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Sample records for accurate genetic information

  1. Preferential access to genetic information from endogenous hominin ancient DNA and accurate quantitative SNP-typing via SPEX

    PubMed Central

    Brotherton, Paul; Sanchez, Juan J.; Cooper, Alan; Endicott, Phillip

    2010-01-01

    The analysis of targeted genetic loci from ancient, forensic and clinical samples is usually built upon polymerase chain reaction (PCR)-generated sequence data. However, many studies have shown that PCR amplification from poor-quality DNA templates can create sequence artefacts at significant levels. With hominin (human and other hominid) samples, the pervasive presence of highly PCR-amplifiable human DNA contaminants in the vast majority of samples can lead to the creation of recombinant hybrids and other non-authentic artefacts. The resulting PCR-generated sequences can then be difficult, if not impossible, to authenticate. In contrast, single primer extension (SPEX)-based approaches can genotype single nucleotide polymorphisms from ancient fragments of DNA as accurately as modern DNA. A single SPEX-type assay can amplify just one of the duplex DNA strands at target loci and generate a multi-fold depth-of-coverage, with non-authentic recombinant hybrids reduced to undetectable levels. Crucially, SPEX-type approaches can preferentially access genetic information from damaged and degraded endogenous ancient DNA templates over modern human DNA contaminants. The development of SPEX-type assays offers the potential for highly accurate, quantitative genotyping from ancient hominin samples. PMID:19864251

  2. Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

    PubMed

    Roses, A D

    2016-02-01

    Structural variants (SVs) include all insertions, deletions, and rearrangements in the genome, with several common types of nucleotide repeats including single sequence repeats, short tandem repeats, and insertion-deletion length variants. Polyallelic SVs provide highly informative markers for association studies with well-phenotyped cohorts. SVs can influence gene regulation by affecting epigenetics, transcription, splicing, and/or translation. Accurate assays of polyallelic SV loci are required to define the range and allele frequency of variable length alleles.

  3. Approaching system equilibrium with accurate or not accurate feedback information in a two-route system

    NASA Astrophysics Data System (ADS)

    Zhao, Xiao-mei; Xie, Dong-fan; Li, Qi

    2015-02-01

    With the development of intelligent transport system, advanced information feedback strategies have been developed to reduce traffic congestion and enhance the capacity. However, previous strategies provide accurate information to travelers and our simulation results show that accurate information brings negative effects, especially in delay case. Because travelers prefer to the best condition route with accurate information, and delayed information cannot reflect current traffic condition but past. Then travelers make wrong routing decisions, causing the decrease of the capacity and the increase of oscillations and the system deviating from the equilibrium. To avoid the negative effect, bounded rationality is taken into account by introducing a boundedly rational threshold BR. When difference between two routes is less than the BR, routes have equal probability to be chosen. The bounded rationality is helpful to improve the efficiency in terms of capacity, oscillation and the gap deviating from the system equilibrium.

  4. Property rights in genetic information.

    PubMed

    Spinello, Richard A

    2004-01-01

    The primary theme of this paper is the normative case against ownership of one's genetic information along with the source of that information (usually human tissues samples). The argument presented here against such "upstream" property rights is based primarily on utilitarian grounds. This issue has new salience thanks to the Human Genome Project and "bio-prospecting" initiatives based on the aggregation of genetic information, such as the one being managed by deCODE Genetics in Iceland. The rationale for ownership is twofold: ownership will protect the basic human rights of privacy and autonomy and it will enable the data subjects to share in the tangible benefits of the genetic research. Proponents of this viewpoint often cite the principle of genetic exceptionalism, which asserts that genetic information needs a higher level of protection than other kinds of personal information such as financial data. We argue, however, that the recognition of such ownership rights would lead to inefficiency along with the disutility of genetic discoveries. Biomedical research will be hampered if property rights in genes and genetic material are too extensive. We contend that other mechanisms such as informed consent and strict confidentiality rules can accomplish the same result as a property right without the liabilities of an exclusive entitlement.

  5. Accurate inference of subtle population structure (and other genetic discontinuities) using principal coordinates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Accurate inference of genetic discontinuities between populations is an essential component of intraspecific biodiversity and evolution studies, as well as associative genetics. The most widely used methods to infer population structure are model based, Bayesian MCMC procedures that minimize Hardy...

  6. Ultra-accurate collaborative information filtering via directed user similarity

    NASA Astrophysics Data System (ADS)

    Guo, Q.; Song, W.-J.; Liu, J.-G.

    2014-07-01

    A key challenge of the collaborative filtering (CF) information filtering is how to obtain the reliable and accurate results with the help of peers' recommendation. Since the similarities from small-degree users to large-degree users would be larger than the ones in opposite direction, the large-degree users' selections are recommended extensively by the traditional second-order CF algorithms. By considering the users' similarity direction and the second-order correlations to depress the influence of mainstream preferences, we present the directed second-order CF (HDCF) algorithm specifically to address the challenge of accuracy and diversity of the CF algorithm. The numerical results for two benchmark data sets, MovieLens and Netflix, show that the accuracy of the new algorithm outperforms the state-of-the-art CF algorithms. Comparing with the CF algorithm based on random walks proposed by Liu et al. (Int. J. Mod. Phys. C, 20 (2009) 285) the average ranking score could reach 0.0767 and 0.0402, which is enhanced by 27.3% and 19.1% for MovieLens and Netflix, respectively. In addition, the diversity, precision and recall are also enhanced greatly. Without relying on any context-specific information, tuning the similarity direction of CF algorithms could obtain accurate and diverse recommendations. This work suggests that the user similarity direction is an important factor to improve the personalized recommendation performance.

  7. Accurate construction of consensus genetic maps via integer linear programming.

    PubMed

    Wu, Yonghui; Close, Timothy J; Lonardi, Stefano

    2011-01-01

    We study the problem of merging genetic maps, when the individual genetic maps are given as directed acyclic graphs. The computational problem is to build a consensus map, which is a directed graph that includes and is consistent with all (or, the vast majority of) the markers in the input maps. However, when markers in the individual maps have ordering conflicts, the resulting consensus map will contain cycles. Here, we formulate the problem of resolving cycles in the context of a parsimonious paradigm that takes into account two types of errors that may be present in the input maps, namely, local reshuffles and global displacements. The resulting combinatorial optimization problem is, in turn, expressed as an integer linear program. A fast approximation algorithm is proposed, and an additional speedup heuristic is developed. Our algorithms were implemented in a software tool named MERGEMAP which is freely available for academic use. An extensive set of experiments shows that MERGEMAP consistently outperforms JOINMAP, which is the most popular tool currently available for this task, both in terms of accuracy and running time. MERGEMAP is available for download at http://www.cs.ucr.edu/~yonghui/mgmap.html.

  8. Genetic Information, Non-Discrimination, and Privacy Protections in Genetic Counseling Practice

    PubMed Central

    Prince, Anya E.R.; Roche, Myra I.

    2014-01-01

    The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, six years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information. PMID:25063358

  9. Accessing Genetic Information with Liquid Biopsies.

    PubMed

    Cai, Xuyu; Janku, Filip; Zhan, Qimin; Fan, Jian-Bing

    2015-10-01

    Recent scientific advances in understanding circulating tumor cells, cell-free DNA/RNA, and exosomes in blood have laid a solid foundation for the development of routine molecular 'liquid biopsies'. This approach provides non-invasive access to genetic information--somatic mutations, epigenetic changes, and differential expression--about the physiological conditions of our body and diseases. It opens a valuable avenue for future genetic studies and human disease diagnosis, including prenatal and neurodegenerative disease diagnosis, as well as for cancer screening and monitoring. With the rapid development of highly sensitive and accurate technologies such as next-generation sequencing, molecular 'liquid biopsies' will quickly become a central piece in the future of precision medicine.

  10. Information theory and the ethylene genetic network

    PubMed Central

    González-García, José S

    2011-01-01

    The original aim of the Information Theory (IT) was to solve a purely technical problem: to increase the performance of communication systems, which are constantly affected by interferences that diminish the quality of the transmitted information. That is, the theory deals only with the problem of transmitting with the maximal precision the symbols constituting a message. In Shannon's theory messages are characterized only by their probabilities, regardless of their value or meaning. As for its present day status, it is generally acknowledged that Information Theory has solid mathematical foundations and has fruitful strong links with Physics in both theoretical and experimental areas. However, many applications of Information Theory to Biology are limited to using it as a technical tool to analyze biopolymers, such as DNA, RNA or protein sequences. The main point of discussion about the applicability of IT to explain the information flow in biological systems is that in a classic communication channel, the symbols that conform the coded message are transmitted one by one in an independent form through a noisy communication channel, and noise can alter each of the symbols, distorting the message; in contrast, in a genetic communication channel the coded messages are not transmitted in the form of symbols but signaling cascades transmit them. Consequently, the information flow from the emitter to the effector is due to a series of coupled physicochemical processes that must ensure the accurate transmission of the message. In this review we discussed a novel proposal to overcome this difficulty, which consists of the modeling of gene expression with a stochastic approach that allows Shannon entropy (H) to be directly used to measure the amount of uncertainty that the genetic machinery has in relation to the correct decoding of a message transmitted into the nucleus by a signaling pathway. From the value of H we can define a function I that measures the amount of

  11. Information theory and the ethylene genetic network.

    PubMed

    González-García, José S; Díaz, José

    2011-10-01

    The original aim of the Information Theory (IT) was to solve a purely technical problem: to increase the performance of communication systems, which are constantly affected by interferences that diminish the quality of the transmitted information. That is, the theory deals only with the problem of transmitting with the maximal precision the symbols constituting a message. In Shannon's theory messages are characterized only by their probabilities, regardless of their value or meaning. As for its present day status, it is generally acknowledged that Information Theory has solid mathematical foundations and has fruitful strong links with Physics in both theoretical and experimental areas. However, many applications of Information Theory to Biology are limited to using it as a technical tool to analyze biopolymers, such as DNA, RNA or protein sequences. The main point of discussion about the applicability of IT to explain the information flow in biological systems is that in a classic communication channel, the symbols that conform the coded message are transmitted one by one in an independent form through a noisy communication channel, and noise can alter each of the symbols, distorting the message; in contrast, in a genetic communication channel the coded messages are not transmitted in the form of symbols but signaling cascades transmit them. Consequently, the information flow from the emitter to the effector is due to a series of coupled physicochemical processes that must ensure the accurate transmission of the message. In this review we discussed a novel proposal to overcome this difficulty, which consists of the modeling of gene expression with a stochastic approach that allows Shannon entropy (H) to be directly used to measure the amount of uncertainty that the genetic machinery has in relation to the correct decoding of a message transmitted into the nucleus by a signaling pathway. From the value of H we can define a function I that measures the amount of

  12. [Genetic information and future medicine].

    PubMed

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  13. A new accurate pill recognition system using imprint information

    NASA Astrophysics Data System (ADS)

    Chen, Zhiyuan; Kamata, Sei-ichiro

    2013-12-01

    Great achievements in modern medicine benefit human beings. Also, it has brought about an explosive growth of pharmaceuticals that current in the market. In daily life, pharmaceuticals sometimes confuse people when they are found unlabeled. In this paper, we propose an automatic pill recognition technique to solve this problem. It functions mainly based on the imprint feature of the pills, which is extracted by proposed MSWT (modified stroke width transform) and described by WSC (weighted shape context). Experiments show that our proposed pill recognition method can reach an accurate rate up to 92.03% within top 5 ranks when trying to classify more than 10 thousand query pill images into around 2000 categories.

  14. Genetic information and insurance: some ethical issues.

    PubMed Central

    O'Neill, O

    1997-01-01

    Life is risky, and insurance provides one of the best developed ways of controlling risks. By pooling, and so transferring risks, those who turn out to suffer antecedently uncertain harms can be assured in advance that they will be helped if those harms arise; they can then plan their lives and activities with confidence that they are less at the mercy of ill fortune. Both publicly organized and commercial insurance can organize the pooling of risk in ways that are beneficial for all concerned. They provide standard ways of securing fundamental ethical values such as solidarity and mutuality. Although policy holders do not know or contract with one another, each benefits from the contribution of others to a shared scheme for pooling and so controlling risk. Although there is a limit to the degree to which commercially-based insurance, where premiums depend on risk level, can go beyond mutuality towards solidarity, in practice it too often achieves a measure of solidarity by taking a broad brush approach to pooling risk. However, the ordinary practices of insurance, and in particular of commercial insurance, also raise ethical questions. These may be put in simple terms by contrasting the way in which an insurance market discriminates between different people, on the basis of characteristics that (supposedly) determine their risk level, and our frequent abhorrence of discrimination, in particular on the basis on religious, racial and gender characteristics. Are the discriminations on which insurance practice relies upon as standard acceptable or not? The increasing availability of genetic information, which testing (of individuals) and screening (of populations) may provide, could lend urgency to these questions. Genetic information may provide a way of obtaining more accurate assessment of individual risks to health and life. This information could be used to discriminate more finely between the risk levels of different individuals, and then to alter the

  15. Building accurate geometric models from abundant range imaging information

    SciTech Connect

    Diegert, C.; Sackos, J.; Nellums, R.

    1997-05-01

    The authors define two simple metrics for accuracy of models built from range imaging information. They apply the metric to a model built from a recent range image taken at the Laser Radar Development and Evaluation Facility (LDERF), Eglin AFB, using a Scannerless Range Imager (SRI) from Sandia National Laboratories. They also present graphical displays of the residual information produced as a byproduct of this measurement, and discuss mechanisms that these data suggest for further improvement in the performance of this already impressive SRI.

  16. The Good, the Strong, and the Accurate: Preschoolers' Evaluations of Informant Attributes

    ERIC Educational Resources Information Center

    Fusaro, Maria; Corriveau, Kathleen H.; Harris, Paul L.

    2011-01-01

    Much recent evidence shows that preschoolers are sensitive to the accuracy of an informant. Faced with two informants, one of whom names familiar objects accurately and the other inaccurately, preschoolers subsequently prefer to learn the names and functions of unfamiliar objects from the more accurate informant. This study examined the inference…

  17. Genetically informed ecological niche models improve climate change predictions.

    PubMed

    Ikeda, Dana H; Max, Tamara L; Allan, Gerard J; Lau, Matthew K; Shuster, Stephen M; Whitham, Thomas G

    2017-01-01

    We examined the hypothesis that ecological niche models (ENMs) more accurately predict species distributions when they incorporate information on population genetic structure, and concomitantly, local adaptation. Local adaptation is common in species that span a range of environmental gradients (e.g., soils and climate). Moreover, common garden studies have demonstrated a covariance between neutral markers and functional traits associated with a species' ability to adapt to environmental change. We therefore predicted that genetically distinct populations would respond differently to climate change, resulting in predicted distributions with little overlap. To test whether genetic information improves our ability to predict a species' niche space, we created genetically informed ecological niche models (gENMs) using Populus fremontii (Salicaceae), a widespread tree species in which prior common garden experiments demonstrate strong evidence for local adaptation. Four major findings emerged: (i) gENMs predicted population occurrences with up to 12-fold greater accuracy than models without genetic information; (ii) tests of niche similarity revealed that three ecotypes, identified on the basis of neutral genetic markers and locally adapted populations, are associated with differences in climate; (iii) our forecasts indicate that ongoing climate change will likely shift these ecotypes further apart in geographic space, resulting in greater niche divergence; (iv) ecotypes that currently exhibit the largest geographic distribution and niche breadth appear to be buffered the most from climate change. As diverse agents of selection shape genetic variability and structure within species, we argue that gENMs will lead to more accurate predictions of species distributions under climate change.

  18. Genetic Counselling: Information Given, Recall and Satisfaction.

    ERIC Educational Resources Information Center

    Michie, Susan; McDonald, Valerie; Marteau, Theresa M.

    1997-01-01

    A questionnaire was sent to counselors (N=32) to categorize the key points given in genetic counseling; to assess the amount and type of information recalled; and to examine the relationships between counselees' knowledge, satisfaction with information received, the meeting of expectations, concern, and anxiety. Results emphasize the importance of…

  19. Human genetic information: the legal implications.

    PubMed

    Brahams, D

    1990-01-01

    This paper provides a brief summary of some of the key legal issues raised by human genetic information and research as viewed from a British common law standpoint. The law is basically reactive rather than prospective and problems posed by futuristic medico-scientific discoveries are likely to be dealt with by reference to established legal principles and analogies made with decided cases. The acquisition and research into human genetic information in the form of DNA profiling may have wide-ranging legal implications. Human genetic information may provide an evidential tool in the legal process when the identity of a specific individual or his family connections and relationships are called into question. It may also pose problems of confidentiality which could conflict with a duty of disclosure. In the future it may be possible to identify a propensity to develop a disease which may be seriously disabling or terminal long before any symptoms are detectable. This sensitive information could be of considerable interest to any prospective employer, insurer, marriage partner or family member and is of serious concern to the individual himself. How far should or could such information lawfully be made available and to whom? Legal debates are also likely to focus on ownership of human genetic information, the patenting of techniques to unravel it, and therapies and medicines developed therefrom. The law will be invoked to safeguard any intellectual property which may exist and to patent any inventive steps in the field.(ABSTRACT TRUNCATED AT 250 WORDS)

  20. Single-sideband modulator accurately reproduces phase information in 2-Mc signals

    NASA Technical Reports Server (NTRS)

    Strenglein, H. F.

    1966-01-01

    Phase-locked oscillator system employing solid state components acts as a single-sideband modulator to accurately reproduce phase information in 2-Mc signals. This system is useful in telemetry, aircraft communications and position-finding stations, and VHF test circuitry.

  1. A simplified and accurate detection of the genetically modified wheat MON71800 with one calibrator plasmid.

    PubMed

    Kim, Jae-Hwan; Park, Saet-Byul; Roh, Hyo-Jeong; Park, Sunghoon; Shin, Min-Ki; Moon, Gui Im; Hong, Jin-Hwan; Kim, Hae-Yeong

    2015-06-01

    With the increasing number of genetically modified (GM) events, unauthorized GMO releases into the food market have increased dramatically, and many countries have developed detection tools for them. This study described the qualitative and quantitative detection methods of unauthorized the GM wheat MON71800 with a reference plasmid (pGEM-M71800). The wheat acetyl-CoA carboxylase (acc) gene was used as the endogenous gene. The plasmid pGEM-M71800, which contains both the acc gene and the event-specific target MON71800, was constructed as a positive control for the qualitative and quantitative analyses. The limit of detection in the qualitative PCR assay was approximately 10 copies. In the quantitative PCR assay, the standard deviation and relative standard deviation repeatability values ranged from 0.06 to 0.25 and from 0.23% to 1.12%, respectively. This study supplies a powerful and very simple but accurate detection strategy for unauthorized GM wheat MON71800 that utilizes a single calibrator plasmid.

  2. 29 CFR 1635.12 - Medical information that is not genetic information.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 29 Labor 4 2011-07-01 2011-07-01 false Medical information that is not genetic information. 1635... COMMISSION GENETIC INFORMATION NONDISCRIMINATION ACT OF 2008 § 1635.12 Medical information that is not genetic information. (a) Medical information about a manifested disease, disorder, or...

  3. Accurate crop classification using hierarchical genetic fuzzy rule-based systems

    NASA Astrophysics Data System (ADS)

    Topaloglou, Charalampos A.; Mylonas, Stelios K.; Stavrakoudis, Dimitris G.; Mastorocostas, Paris A.; Theocharis, John B.

    2014-10-01

    This paper investigates the effectiveness of an advanced classification system for accurate crop classification using very high resolution (VHR) satellite imagery. Specifically, a recently proposed genetic fuzzy rule-based classification system (GFRBCS) is employed, namely, the Hierarchical Rule-based Linguistic Classifier (HiRLiC). HiRLiC's model comprises a small set of simple IF-THEN fuzzy rules, easily interpretable by humans. One of its most important attributes is that its learning algorithm requires minimum user interaction, since the most important learning parameters affecting the classification accuracy are determined by the learning algorithm automatically. HiRLiC is applied in a challenging crop classification task, using a SPOT5 satellite image over an intensively cultivated area in a lake-wetland ecosystem in northern Greece. A rich set of higher-order spectral and textural features is derived from the initial bands of the (pan-sharpened) image, resulting in an input space comprising 119 features. The experimental analysis proves that HiRLiC compares favorably to other interpretable classifiers of the literature, both in terms of structural complexity and classification accuracy. Its testing accuracy was very close to that obtained by complex state-of-the-art classification systems, such as the support vector machines (SVM) and random forest (RF) classifiers. Nevertheless, visual inspection of the derived classification maps shows that HiRLiC is characterized by higher generalization properties, providing more homogeneous classifications that the competitors. Moreover, the runtime requirements for producing the thematic map was orders of magnitude lower than the respective for the competitors.

  4. Accurate protein structure modeling using sparse NMR data and homologous structure information.

    PubMed

    Thompson, James M; Sgourakis, Nikolaos G; Liu, Gaohua; Rossi, Paolo; Tang, Yuefeng; Mills, Jeffrey L; Szyperski, Thomas; Montelione, Gaetano T; Baker, David

    2012-06-19

    While information from homologous structures plays a central role in X-ray structure determination by molecular replacement, such information is rarely used in NMR structure determination because it can be incorrect, both locally and globally, when evolutionary relationships are inferred incorrectly or there has been considerable evolutionary structural divergence. Here we describe a method that allows robust modeling of protein structures of up to 225 residues by combining (1)H(N), (13)C, and (15)N backbone and (13)Cβ chemical shift data, distance restraints derived from homologous structures, and a physically realistic all-atom energy function. Accurate models are distinguished from inaccurate models generated using incorrect sequence alignments by requiring that (i) the all-atom energies of models generated using the restraints are lower than models generated in unrestrained calculations and (ii) the low-energy structures converge to within 2.0 Å backbone rmsd over 75% of the protein. Benchmark calculations on known structures and blind targets show that the method can accurately model protein structures, even with very remote homology information, to a backbone rmsd of 1.2-1.9 Å relative to the conventional determined NMR ensembles and of 0.9-1.6 Å relative to X-ray structures for well-defined regions of the protein structures. This approach facilitates the accurate modeling of protein structures using backbone chemical shift data without need for side-chain resonance assignments and extensive analysis of NOESY cross-peak assignments.

  5. 29 CFR 1635.12 - Medical information that is not genetic information.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... genetic information. (a) Medical information about a manifested disease, disorder, or pathological..., genetic information about a manifested disease, disorder, or pathological condition is subject to the... 29 Labor 4 2014-07-01 2014-07-01 false Medical information that is not genetic information....

  6. 29 CFR 1635.12 - Medical information that is not genetic information.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... genetic information. (a) Medical information about a manifested disease, disorder, or pathological..., genetic information about a manifested disease, disorder, or pathological condition is subject to the... 29 Labor 4 2013-07-01 2013-07-01 false Medical information that is not genetic information....

  7. 29 CFR 1635.12 - Medical information that is not genetic information.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... genetic information. (a) Medical information about a manifested disease, disorder, or pathological..., genetic information about a manifested disease, disorder, or pathological condition is subject to the... 29 Labor 4 2012-07-01 2012-07-01 false Medical information that is not genetic information....

  8. Cas9-chromatin binding information enables more accurate CRISPR off-target prediction

    PubMed Central

    Singh, Ritambhara; Kuscu, Cem; Quinlan, Aaron; Qi, Yanjun; Adli, Mazhar

    2015-01-01

    The CRISPR system has become a powerful biological tool with a wide range of applications. However, improving targeting specificity and accurately predicting potential off-targets remains a significant goal. Here, we introduce a web-based CRISPR/Cas9 Off-target Prediction and Identification Tool (CROP-IT) that performs improved off-target binding and cleavage site predictions. Unlike existing prediction programs that solely use DNA sequence information; CROP-IT integrates whole genome level biological information from existing Cas9 binding and cleavage data sets. Utilizing whole-genome chromatin state information from 125 human cell types further enhances its computational prediction power. Comparative analyses on experimentally validated datasets show that CROP-IT outperforms existing computational algorithms in predicting both Cas9 binding as well as cleavage sites. With a user-friendly web-interface, CROP-IT outputs scored and ranked list of potential off-targets that enables improved guide RNA design and more accurate prediction of Cas9 binding or cleavage sites. PMID:26032770

  9. Information capacity of genetic regulatory elements

    NASA Astrophysics Data System (ADS)

    Tkačik, Gašper; Callan, Curtis G., Jr.; Bialek, William

    2008-07-01

    Changes in a cell’s external or internal conditions are usually reflected in the concentrations of the relevant transcription factors. These proteins in turn modulate the expression levels of the genes under their control and sometimes need to perform nontrivial computations that integrate several inputs and affect multiple genes. At the same time, the activities of the regulated genes would fluctuate even if the inputs were held fixed, as a consequence of the intrinsic noise in the system, and such noise must fundamentally limit the reliability of any genetic computation. Here we use information theory to formalize the notion of information transmission in simple genetic regulatory elements in the presence of physically realistic noise sources. The dependence of this “channel capacity” on noise parameters, cooperativity and cost of making signaling molecules is explored systematically. We find that, in the range of parameters probed by recent in vivo measurements, capacities higher than one bit should be achievable. It is of course generally accepted that gene regulatory elements must, in order to function properly, have a capacity of at least one bit. The central point of our analysis is the demonstration that simple physical models of noisy gene transcription, with realistic parameters, can indeed achieve this capacity: it was not self-evident that this should be so. We also demonstrate that capacities significantly greater than one bit are possible, so that transcriptional regulation need not be limited to simple “on-off” components. The question whether real systems actually exploit this richer possibility is beyond the scope of this investigation.

  10. Regulating genetic information--exploring the options in legal theory.

    PubMed

    2014-12-01

    Ground-breaking genetic discoveries and technological advances have introduced a new world of genetic exploration, and technological advances have facilitated the discovery of the genetic basis of a myriad of diseases. Genetic testing promises to potentially revolutionise health care and offer the potential ofpersonalised medicine. Genetic technology may also offer the means to detect potential future disabilities. In light of rapid advances in genetic science and technology, questions arise as to whether an appropriate framework exists to protect the interests of individuals, prevent the misuse of genetic information by interested third parties, and also to encourage further advances in genetic science. In consideration of rapidly advancing genetic technologies and the ethical and legal concerns that arise, this article examines the regulation of genetic information, primarily from a theoretical perspective. It explores the preferable mode of regulation and choice of regulatory frameworks in legal theory, including non-discrimination, privacy and property.

  11. The utility of accurate mass and LC elution time information in the analysis of complex proteomes

    SciTech Connect

    Norbeck, Angela D.; Monroe, Matthew E.; Adkins, Joshua N.; Anderson, Kevin K.; Daly, Don S.; Smith, Richard D.

    2005-08-01

    Theoretical tryptic digests of all predicted proteins from the genomes of three organisms of varying complexity were evaluated for specificity and possible utility of combined peptide accurate mass and predicted LC normalized elution time (NET) information. The uniqueness of each peptide was evaluated using its combined mass (+/- 5 ppm and 1 ppm) and NET value (no constraint, +/- 0.05 and 0.01 on a 0-1 NET scale). The set of peptides both underestimates actual biological complexity due to the lack of specific modifications, and overestimates the expected complexity since many proteins will not be present in the sample or observable on the mass spectrometer because of dynamic range limitations. Once a peptide is identified from an LCMS/MS experiment, its mass and elution time is representative of a unique fingerprint for that peptide. The uniqueness of that fingerprint in comparison to that for the other peptides present is indicative of the ability to confidently identify that peptide based on accurate mass and NET measurements. These measurements can be made using HPLC coupled with high resolution MS in a high-throughput manner. Results show that for organisms with comparatively small proteomes, such as Deinococcus radiodurans, modest mass and elution time accuracies are generally adequate for peptide identifications. For more complex proteomes, increasingly accurate easurements are required. However, the majority of proteins should be uniquely identifiable by using LC-MS with mass accuracies within +/- 1 ppm and elution time easurements within +/- 0.01 NET.

  12. Regulating genetic privacy in the online health information era.

    PubMed

    Magnusson, Roger S

    2002-01-01

    As the clinical implications of the genetic components of disease come to be better understood, there is likely to be a significant increase in the volume of genetic information held within clinical records. As patient health care records, in turn, come on-line as part of broader health information networks, there is likely to be considerable pressure in favour of special laws protecting genetic privacy. This paper reviews some of the privacy challenges posed by electronic health records, some government initiatives in this area, and notes the impact that developments in genetic testing will have upon the 'genetic content' of e-health records. Despite the sensitivity of genetic information, the paper argues against a policy of 'genetic exceptionalism', and its implications for genetic privacy laws.

  13. The utility of accurate mass and LC elution time information in the analysis of complex proteomes

    PubMed Central

    Norbeck, Angela D.; Monroe, Matthew E.; Adkins, Joshua N.; Smith, Richard D.

    2007-01-01

    Theoretical tryptic digests of all predicted proteins from the genomes of three organisms of varying complexity were evaluated for specificity and possible utility of combined peptide accurate mass and predicted LC normalized elution time (NET) information. The uniqueness of each peptide was evaluated using its combined mass (+/− 5 ppm and 1 ppm) and NET value (no constraint, +/− 0.05 and 0.01 on a 0–1 NET scale). The set of peptides both underestimates actual biological complexity due to the lack of specific modifications, and overestimates the expected complexity since many proteins will not be present in the sample or observable on the mass spectrometer because of dynamic range limitations. Once a peptide is identified from an LC-MS/MS experiment, its mass and elution time is representative of a unique fingerprint for that peptide. The uniqueness of that fingerprint in comparison to that for the other peptides present is indicative of the ability to confidently identify that peptide based on accurate mass and NET measurements. These measurements can be made using HPLC coupled with high resolution MS in a high-throughput manner. Results show that for organisms with comparatively small proteomes, such as Deinococcus radiodurans, modest mass and elution time accuracies are generally adequate for peptide identifications. For more complex proteomes, increasingly accurate measurements are required. However, the majority of proteins should be uniquely identifiable by using LC-MS with mass accuracies within +/− 1 ppm and elution time measurements within +/− 0.01 NET. PMID:15979333

  14. Fuzzy Information Retrieval Using Genetic Algorithms and Relevance Feedback.

    ERIC Educational Resources Information Center

    Petry, Frederick E.; And Others

    1993-01-01

    Describes an approach that combines concepts from information retrieval, fuzzy set theory, and genetic programing to improve weighted Boolean query formulation via relevance feedback. Highlights include background on information retrieval systems; genetic algorithms; subproblem formulation; and preliminary results based on a testbed. (Contains 12…

  15. The Genetic Information Nondiscrimination Act (GINA): A Civil Rights Victory

    ERIC Educational Resources Information Center

    Petruniak, Mark; Krokosky, Alyson; Terry, Sharon F.

    2011-01-01

    This article discusses the Genetic Information Nondiscrimination Act (GINA) which President George W. Bush officially signed in 2008. The law prohibits employers from making adverse employment decisions based on a person's genetic information, including family health history. It also forbids insurance companies from discriminating against…

  16. From sweaty towels to genetic stats: stalking athletes for their genetic information.

    PubMed

    Suter, Sonia M

    2012-12-01

    With recent advances in genetics, sports fans may soon have access to a new category of statistics: genetic information. With patented correlations between genetics and athletics, and with the emergence of a growing and unregulated market in direct-to-consumer ("DTC") genetic testing, fans may be able to obtain an athlete's genetic information on their own, as long as they can access any item that may have some DNA on it. In some jurisdictions, they may even be able to do so legally, notwithstanding the potential harms to the athletes and their privacy.

  17. A hybrid genetic algorithm-extreme learning machine approach for accurate significant wave height reconstruction

    NASA Astrophysics Data System (ADS)

    Alexandre, E.; Cuadra, L.; Nieto-Borge, J. C.; Candil-García, G.; del Pino, M.; Salcedo-Sanz, S.

    2015-08-01

    Wave parameters computed from time series measured by buoys (significant wave height Hs, mean wave period, etc.) play a key role in coastal engineering and in the design and operation of wave energy converters. Storms or navigation accidents can make measuring buoys break down, leading to missing data gaps. In this paper we tackle the problem of locally reconstructing Hs at out-of-operation buoys by using wave parameters from nearby buoys, based on the spatial correlation among values at neighboring buoy locations. The novelty of our approach for its potential application to problems in coastal engineering is twofold. On one hand, we propose a genetic algorithm hybridized with an extreme learning machine that selects, among the available wave parameters from the nearby buoys, a subset FnSP with nSP parameters that minimizes the Hs reconstruction error. On the other hand, we evaluate to what extent the selected parameters in subset FnSP are good enough in assisting other machine learning (ML) regressors (extreme learning machines, support vector machines and gaussian process regression) to reconstruct Hs. The results show that all the ML method explored achieve a good Hs reconstruction in the two different locations studied (Caribbean Sea and West Atlantic).

  18. Communicating genetic information: a difficult challenge for future pediatricians

    PubMed Central

    2007-01-01

    Background The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome). Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors. Methods Three reviewers independently searched PubMed, OVID, and Medline databases to identify articles describing the challenges of communicating genetic information to patients, published from 1960 to December 2005. After the publications were identified and reviewed, four major areas of interest were identified in order to categorize the findings. Results Twenty-five publications were identified during the literature search. From the review, the following categories were selected to organize the findings: (1) Inherent difficulties of communicating and comprehending genetic information; (2) Comprehension of genetic information by pediatricians; (3) Genetics training in residency programs; and (4) The effect of genetic information on the future role of pediatricians and potential legal implications. Conclusion Pediatricians and residents lack essential knowledge of genetics and communication skills for effective counseling of patients. The review indicated that successful communication of genetic information involves a number of important skills and considerations. It is likely that these skills and considerations are universally required for the communication of most complex specialized medical information. In the past, communication skills have not been considered a priority. Today, these skills have become a demanding professional and even

  19. Privacy and intra-familiy communication of genetic information.

    PubMed

    Moniz, Helena

    2004-01-01

    The new knowledge (and predictions) created by DNA tests and the family nature of genetic information has already lead to a new problem: the intra-familiar communication of genetic data. This raises questions such as the following. Is there a duty to inform in cases when treatment is possible and the patient does not permit disclosure of genetic results to relatives? Is there an obligation to warn or merely an authorization (that could be used or not)? Could privacy protection be maintain as an individual interest but with some justified violations? A balance needs to be establishes between the interest of privacy and the need to disclose secret information.

  20. Multimodality medical image registration and fusion techniques using mutual information and genetic algorithm-based approaches.

    PubMed

    Bhattacharya, Mahua; Das, Arpita

    2011-01-01

    Medical image fusion has been used to derive the useful complimentary information from multimodal images. The prior step of fusion is registration or proper alignment of test images for accurate extraction of detail information. For this purpose, the images to be fused are geometrically aligned using mutual information (MI) as similarity measuring metric followed by genetic algorithm to maximize MI. The proposed fusion strategy incorporating multi-resolution approach extracts more fine details from the test images and improves the quality of composite fused image. The proposed fusion approach is independent of any manual marking or knowledge of fiducial points and starts the procedure automatically. The performance of proposed genetic-based fusion methodology is compared with fuzzy clustering algorithm-based fusion approach, and the experimental results show that genetic-based fusion technique improves the quality of the fused image significantly over the fuzzy approaches.

  1. Highly Accurate Prediction of Protein-Protein Interactions via Incorporating Evolutionary Information and Physicochemical Characteristics

    PubMed Central

    Li, Zheng-Wei; You, Zhu-Hong; Chen, Xing; Gui, Jie; Nie, Ru

    2016-01-01

    Protein-protein interactions (PPIs) occur at almost all levels of cell functions and play crucial roles in various cellular processes. Thus, identification of PPIs is critical for deciphering the molecular mechanisms and further providing insight into biological processes. Although a variety of high-throughput experimental techniques have been developed to identify PPIs, existing PPI pairs by experimental approaches only cover a small fraction of the whole PPI networks, and further, those approaches hold inherent disadvantages, such as being time-consuming, expensive, and having high false positive rate. Therefore, it is urgent and imperative to develop automatic in silico approaches to predict PPIs efficiently and accurately. In this article, we propose a novel mixture of physicochemical and evolutionary-based feature extraction method for predicting PPIs using our newly developed discriminative vector machine (DVM) classifier. The improvements of the proposed method mainly consist in introducing an effective feature extraction method that can capture discriminative features from the evolutionary-based information and physicochemical characteristics, and then a powerful and robust DVM classifier is employed. To the best of our knowledge, it is the first time that DVM model is applied to the field of bioinformatics. When applying the proposed method to the Yeast and Helicobacter pylori (H. pylori) datasets, we obtain excellent prediction accuracies of 94.35% and 90.61%, respectively. The computational results indicate that our method is effective and robust for predicting PPIs, and can be taken as a useful supplementary tool to the traditional experimental methods for future proteomics research. PMID:27571061

  2. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  3. Information transmission in genetic regulatory networks: a review

    NASA Astrophysics Data System (ADS)

    Tkačik, Gašper; Walczak, Aleksandra M.

    2011-04-01

    Genetic regulatory networks enable cells to respond to changes in internal and external conditions by dynamically coordinating their gene expression profiles. Our ability to make quantitative measurements in these biochemical circuits has deepened our understanding of what kinds of computations genetic regulatory networks can perform, and with what reliability. These advances have motivated researchers to look for connections between the architecture and function of genetic regulatory networks. Transmitting information between a network's inputs and outputs has been proposed as one such possible measure of function, relevant in certain biological contexts. Here we summarize recent developments in the application of information theory to gene regulatory networks. We first review basic concepts in information theory necessary for understanding recent work. We then discuss the functional complexity of gene regulation, which arises from the molecular nature of the regulatory interactions. We end by reviewing some experiments that support the view that genetic networks responsible for early development of multicellular organisms might be maximizing transmitted 'positional information'.

  4. Computer Center: BASIC String Models of Genetic Information Transfer.

    ERIC Educational Resources Information Center

    Spain, James D., Ed.

    1984-01-01

    Discusses some of the major genetic information processes which may be modeled by computer program string manipulation, focusing on replication and transcription. Also discusses instructional applications of using string models. (JN)

  5. 29 CFR 1635.8 - Acquisition of genetic information.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... disclose the identity of specific individuals. (6) Where an employer conducts DNA analysis for law... genetic information is used for analysis of DNA identification markers for quality control to...

  6. 29 CFR 1635.8 - Acquisition of genetic information.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... disclose the identity of specific individuals. (6) Where an employer conducts DNA analysis for law... genetic information is used for analysis of DNA identification markers for quality control to...

  7. 29 CFR 1635.8 - Acquisition of genetic information.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... disclose the identity of specific individuals. (6) Where an employer conducts DNA analysis for law... genetic information is used for analysis of DNA identification markers for quality control to...

  8. Identifying individuals who might benefit from genetic services and information.

    PubMed

    Jacobs, Chris; Patch, Christine

    This is the second in a series of articles on genetics. This article focuses on competency 1 of the revised framework for genetics/genomics for nurses. The authors discuss the importance of nurses identifying individuals who may benefit from genetic services. Recording a family history and drawing a family tree are useful skills that will help to identify these individuals and inform the healthcare team. The article explains when to refer individuals to genetic services and what they may expect from these referrals.

  9. Accurate determination of genetic identity for a single cacao bean, using molecular markers with a nanofluidic system, ensures cocoa authentication.

    PubMed

    Fang, Wanping; Meinhardt, Lyndel W; Mischke, Sue; Bellato, Cláudia M; Motilal, Lambert; Zhang, Dapeng

    2014-01-15

    Cacao (Theobroma cacao L.), the source of cocoa, is an economically important tropical crop. One problem with the premium cacao market is contamination with off-types adulterating raw premium material. Accurate determination of the genetic identity of single cacao beans is essential for ensuring cocoa authentication. Using nanofluidic single nucleotide polymorphism (SNP) genotyping with 48 SNP markers, we generated SNP fingerprints for small quantities of DNA extracted from the seed coat of single cacao beans. On the basis of the SNP profiles, we identified an assumed adulterant variety, which was unambiguously distinguished from the authentic beans by multilocus matching. Assignment tests based on both Bayesian clustering analysis and allele frequency clearly separated all 30 authentic samples from the non-authentic samples. Distance-based principle coordinate analysis further supported these results. The nanofluidic SNP protocol, together with forensic statistical tools, is sufficiently robust to establish authentication and to verify gourmet cacao varieties. This method shows significant potential for practical application.

  10. What are pregnant women's information needs and information seeking behaviors prior to their prenatal genetic counseling?

    PubMed

    Hsieh, Yichuan; Brennan, Patricia Flatley

    2005-01-01

    As a result of the Human Genome Project, more genetic diagnostic tests have become available to the public and genetic-related information has also grown exponentially. Pregnant women are now routinely offered tests for chromosomal disorders and screenings for genetic conditions that are relevant to their situations. In order to facilitate the information system (IS) development to support their informed decision-making, it is imperative for the IS designer to recognize their unique information needs and patterns of information seeking behavior (ISB) first. This paper presents results of a pilot study that examined pregnant women's information needs, ISBs, and information resources used prior to their prenatal genetic counseling. Findings suggest three distinctive areas, content, format, and timing, for IS design considerations.

  11. On genetic information uncertainty and the mutator phenotype in cancer.

    PubMed

    Chan, Jason Yongsheng

    2012-01-01

    Recent evidence supports the existence of a mutator phenotype in cancer cells, although the mechanistic basis remains unknown. In this paper, it is shown that this enhanced genetic instability is generated by an amplified measurement uncertainty on genetic information during DNA replication. At baseline, an inherent measurement uncertainty implies an imprecision of the recognition, replication and transfer genetic information, and forms the basis for an intrinsic genetic instability in all biological cells. Genetic information is contained in the sequence of DNA bases, each existing due to proton tunnelling, as a coherent superposition of quantum states composed of both the canonical and rare tautomeric forms until decoherence by interaction with DNA polymerase. The result of such a quantum measurement process may be interpreted classically as akin to a Bernoulli trial, whose outcome X is random and can be either of two possibilities, depending on whether the proton is tunnelled (X=1) or not (X=0). This inherent quantum uncertainty is represented by a binary entropy function and quantified in terms of Shannon information entropy H(X)=-P(X=1)log(2)P(X=1)-P(X=0)log(2)P(X=0). Enhanced genetic instability may either be directly derived from amplified uncertainty induced by increases in quantum and thermodynamic fluctuation, or indirectly arise from the loss of natural uncertainty reduction mechanisms.

  12. Communicating genetic risk information within families: a review.

    PubMed

    Wiseman, Mel; Dancyger, Caroline; Michie, Susan

    2010-12-01

    This review of family communication of genetic risk information addresses questions of what the functions and influences on communication are; what, who and how family members are told about genetic risk information; what the impact for counsellee, relative and relationships are; whether there are differences by gender and condition; and what theories and methodologies are used. A systematic search strategy identified peer-reviewed journal articles published 1985-2009 using a mixture of methodologies. A Narrative Synthesis was used to extract and summarise data relevant to the research questions. This review identified 33 articles which found a consistent pattern of findings that communication about genetic risk within families is influenced by individual beliefs about the desirability of communicating genetic risk and by closeness of relationships within the family. None of the studies directly investigated the impact of communication on counsellees or their families, differences according to gender of counsellee or by condition nor alternative methods of communication with relatives. The findings mainly apply to late onset conditions such as Hereditary Breast and Ovarian Cancer. The most frequently used theory was Family Systems Theory and methods were generally qualitative. This review points to multifactorial influences on who is communicated with in families and what they are told about genetic risk information. Further research is required to investigate the impact of genetic risk information on family systems and differences between genders and conditions.

  13. Accurate refinement of docked protein complexes using evolutionary information and deep learning.

    PubMed

    Akbal-Delibas, Bahar; Farhoodi, Roshanak; Pomplun, Marc; Haspel, Nurit

    2016-06-01

    One of the major challenges for protein docking methods is to accurately discriminate native-like structures from false positives. Docking methods are often inaccurate and the results have to be refined and re-ranked to obtain native-like complexes and remove outliers. In a previous work, we introduced AccuRefiner, a machine learning based tool for refining protein-protein complexes. Given a docked complex, the refinement tool produces a small set of refined versions of the input complex, with lower root-mean-square-deviation (RMSD) of atomic positions with respect to the native structure. The method employs a unique ranking tool that accurately predicts the RMSD of docked complexes with respect to the native structure. In this work, we use a deep learning network with a similar set of features and five layers. We show that a properly trained deep learning network can accurately predict the RMSD of a docked complex with 1.40 Å error margin on average, by approximating the complex relationship between a wide set of scoring function terms and the RMSD of a docked structure. The network was trained on 35000 unbound docking complexes generated by RosettaDock. We tested our method on 25 different putative docked complexes produced also by RosettaDock for five proteins that were not included in the training data. The results demonstrate that the high accuracy of the ranking tool enables AccuRefiner to consistently choose the refinement candidates with lower RMSD values compared to the coarsely docked input structures.

  14. Using genetic research to inform imperiled and invasive species management

    USGS Publications Warehouse

    Hunter, Margaret E.; Pawlitz, Rachel J.

    2012-01-01

    The long-term viability of species and populations is related to their potential to migrate, reproduce, and adapt to environmental changes. In the southeast United States, U.S. Geological Survey (USGS) scientists are providing resource managers with genetic information to improve the long-term survival and sustainability of the Nation's aquatic species. Research focused on native and imperiled species can assess the genetic factors influencing their survival and recovery, while work on invasive species can provide information on their proliferation, dispersal, and impacts on native species.

  15. Accurate recapture identification for genetic mark-recapture studies with error-tolerant likelihood-based match calling and sample clustering.

    PubMed

    Sethi, Suresh A; Linden, Daniel; Wenburg, John; Lewis, Cara; Lemons, Patrick; Fuller, Angela; Hare, Matthew P

    2016-12-01

    Error-tolerant likelihood-based match calling presents a promising technique to accurately identify recapture events in genetic mark-recapture studies by combining probabilities of latent genotypes and probabilities of observed genotypes, which may contain genotyping errors. Combined with clustering algorithms to group samples into sets of recaptures based upon pairwise match calls, these tools can be used to reconstruct accurate capture histories for mark-recapture modelling. Here, we assess the performance of a recently introduced error-tolerant likelihood-based match-calling model and sample clustering algorithm for genetic mark-recapture studies. We assessed both biallelic (i.e. single nucleotide polymorphisms; SNP) and multiallelic (i.e. microsatellite; MSAT) markers using a combination of simulation analyses and case study data on Pacific walrus (Odobenus rosmarus divergens) and fishers (Pekania pennanti). A novel two-stage clustering approach is demonstrated for genetic mark-recapture applications. First, repeat captures within a sampling occasion are identified. Subsequently, recaptures across sampling occasions are identified. The likelihood-based matching protocol performed well in simulation trials, demonstrating utility for use in a wide range of genetic mark-recapture studies. Moderately sized SNP (64+) and MSAT (10-15) panels produced accurate match calls for recaptures and accurate non-match calls for samples from closely related individuals in the face of low to moderate genotyping error. Furthermore, matching performance remained stable or increased as the number of genetic markers increased, genotyping error notwithstanding.

  16. Accurate recapture identification for genetic mark–recapture studies with error-tolerant likelihood-based match calling and sample clustering

    PubMed Central

    Linden, Daniel; Wenburg, John; Lewis, Cara; Lemons, Patrick; Fuller, Angela; Hare, Matthew P.

    2016-01-01

    Error-tolerant likelihood-based match calling presents a promising technique to accurately identify recapture events in genetic mark–recapture studies by combining probabilities of latent genotypes and probabilities of observed genotypes, which may contain genotyping errors. Combined with clustering algorithms to group samples into sets of recaptures based upon pairwise match calls, these tools can be used to reconstruct accurate capture histories for mark–recapture modelling. Here, we assess the performance of a recently introduced error-tolerant likelihood-based match-calling model and sample clustering algorithm for genetic mark–recapture studies. We assessed both biallelic (i.e. single nucleotide polymorphisms; SNP) and multiallelic (i.e. microsatellite; MSAT) markers using a combination of simulation analyses and case study data on Pacific walrus (Odobenus rosmarus divergens) and fishers (Pekania pennanti). A novel two-stage clustering approach is demonstrated for genetic mark–recapture applications. First, repeat captures within a sampling occasion are identified. Subsequently, recaptures across sampling occasions are identified. The likelihood-based matching protocol performed well in simulation trials, demonstrating utility for use in a wide range of genetic mark–recapture studies. Moderately sized SNP (64+) and MSAT (10–15) panels produced accurate match calls for recaptures and accurate non-match calls for samples from closely related individuals in the face of low to moderate genotyping error. Furthermore, matching performance remained stable or increased as the number of genetic markers increased, genotyping error notwithstanding. PMID:28083094

  17. Information Business: Applying Infometry (Informational Geometry) in Cognitive Coordination and Genetic Programming for Electronic Information Packaging and Marketing.

    ERIC Educational Resources Information Center

    Tsai, Bor-sheng

    1994-01-01

    Describes the use of infometry, or informational geometry, to meet the challenges of information service businesses. Highlights include theoretical models for cognitive coordination and genetic programming; electronic information packaging; marketing electronic information products, including cost-benefit analyses; and recapitalization, including…

  18. The role of genetic information in personalized medicine.

    PubMed

    Gamma, Alex

    2013-01-01

    Personalized medicine is the latest promise of a gene-centered biomedicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors-genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.

  19. Different types of secondary information in the genetic code.

    PubMed

    Maraia, Richard J; Iben, James R

    2014-07-01

    Whole-genome and functional analyses suggest a wealth of secondary or auxiliary genetic information (AGI) within the redundancy component of the genetic code. Although there are multiple aspects of biased codon use, we focus on two types of auxiliary information: codon-specific translational pauses that can be used by particular proteins toward their unique folding and biased codon patterns shared by groups of functionally related mRNAs with coordinate regulation. AGI is important to genetics in general and to human disease; here, we consider influences of its three major components, biased codon use itself, variations in the tRNAome, and anticodon modifications that distinguish synonymous decoding. AGI is plastic and can be used by different species to different extents, with tissue-specificity and in stress responses. Because AGI is species-specific, it is important to consider codon-sensitive experiments when using heterologous systems; for this we focus on the tRNA anticodon loop modification enzyme, CDKAL1, and its link to type 2 diabetes. Newly uncovered tRNAome variability among humans suggests roles in penetrance and as a genetic modifier and disease modifier. Development of experimental and bioinformatics methods are needed to uncover additional means of auxiliary genetic information.

  20. Crossover Improvement for the Genetic Algorithm in Information Retrieval.

    ERIC Educational Resources Information Center

    Vrajitoru, Dana

    1998-01-01

    In information retrieval (IR), the aim of genetic algorithms (GA) is to help a system to find, in a huge documents collection, a good reply to a query expressed by the user. Analysis of phenomena seen during the implementation of a GA for IR has led to a new crossover operation, which is introduced and compared to other learning methods.…

  1. Does Childhood Anxiety Evoke Maternal Control? A Genetically Informed Study

    ERIC Educational Resources Information Center

    Eley, Thalia C.; Napolitano, Maria; Lau, Jennifer Y. F.; Gregory, Alice M.

    2010-01-01

    Background: Despite theoretical and empirical support for an association between maternal control and child anxiety, few studies have examined the origins of this association. Furthermore, none use observer-ratings of maternal control within a genetically informative design. This study addressed three questions: 1) do children who experience…

  2. Are Genetically Informed Designs Genetically Informative?: Comment on McGue, Elkins, Walden, and Iacono (2005) and Quantitative Behavioral Genetics

    ERIC Educational Resources Information Center

    Partridge, Ty

    2005-01-01

    M. McGue, I. Elkins, B. Walden, and W. G. Iacono (see record 2005-14938-011) presented the findings from a twin study examining the relative contributions of genetic and environmental factors to the developmental trajectories of parent-adolescent relationships. From a behavioral genetics perspective, this study is well conceptualized, is well…

  3. 16 CFR 1101.32 - Reasonable steps to assure information is accurate.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 16 Commercial Practices 2 2012-01-01 2012-01-01 false Reasonable steps to assure information is... to the best of the submitter's knowledge and belief, provided that: (i) The confirmation is made by... physician; or (v) The confirmation is made by a parent or guardian of a child involved in an...

  4. 16 CFR 1101.32 - Reasonable steps to assure information is accurate.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 16 Commercial Practices 2 2010-01-01 2010-01-01 false Reasonable steps to assure information is... to the best of the submitter's knowledge and belief, provided that: (i) The confirmation is made by... physician; or (v) The confirmation is made by a parent or guardian of a child involved in an...

  5. 16 CFR 1101.32 - Reasonable steps to assure information is accurate.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 16 Commercial Practices 2 2014-01-01 2014-01-01 false Reasonable steps to assure information is... to the best of the submitter's knowledge and belief, provided that: (i) The confirmation is made by... physician; or (v) The confirmation is made by a parent or guardian of a child involved in an...

  6. 16 CFR 1101.32 - Reasonable steps to assure information is accurate.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 16 Commercial Practices 2 2013-01-01 2013-01-01 false Reasonable steps to assure information is... to the best of the submitter's knowledge and belief, provided that: (i) The confirmation is made by... physician; or (v) The confirmation is made by a parent or guardian of a child involved in an...

  7. 16 CFR 1101.32 - Reasonable steps to assure information is accurate.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 16 Commercial Practices 2 2011-01-01 2011-01-01 false Reasonable steps to assure information is... to the best of the submitter's knowledge and belief, provided that: (i) The confirmation is made by... physician; or (v) The confirmation is made by a parent or guardian of a child involved in an...

  8. Exploratory Movement Generates Higher-Order Information That Is Sufficient for Accurate Perception of Scaled Egocentric Distance

    PubMed Central

    Mantel, Bruno; Stoffregen, Thomas A.; Campbell, Alain; Bardy, Benoît G.

    2015-01-01

    Body movement influences the structure of multiple forms of ambient energy, including optics and gravito-inertial force. Some researchers have argued that egocentric distance is derived from inferential integration of visual and non-visual stimulation. We suggest that accurate information about egocentric distance exists in perceptual stimulation as higher-order patterns that extend across optics and inertia. We formalize a pattern that specifies the egocentric distance of a stationary object across higher-order relations between optics and inertia. This higher-order parameter is created by self-generated movement of the perceiver in inertial space relative to the illuminated environment. For this reason, we placed minimal restrictions on the exploratory movements of our participants. We asked whether humans can detect and use the information available in this higher-order pattern. Participants judged whether a virtual object was within reach. We manipulated relations between body movement and the ambient structure of optics and inertia. Judgments were precise and accurate when the higher-order optical-inertial parameter was available. When only optic flow was available, judgments were poor. Our results reveal that participants perceived egocentric distance from the higher-order, optical-inertial consequences of their own exploratory activity. Analysis of participants’ movement trajectories revealed that self-selected movements were complex, and tended to optimize availability of the optical-inertial pattern that specifies egocentric distance. We argue that accurate information about egocentric distance exists in higher-order patterns of ambient energy, that self-generated movement can generate these higher-order patterns, and that these patterns can be detected and used to support perception of egocentric distance that is precise and accurate. PMID:25856410

  9. An Integrated Korean Biodiversity and Genetic Information Retrieval System

    PubMed Central

    Lim, Jeongheui; Bhak, Jong; Oh, Hee-Mock; Kim, Chang-Bae; Park, Yong-Ha; Paek, Woon Kee

    2008-01-01

    Background On-line biodiversity information databases are growing quickly and being integrated into general bioinformatics systems due to the advances of fast gene sequencing technologies and the Internet. These can reduce the cost and effort of performing biodiversity surveys and genetic searches, which allows scientists to spend more time researching and less time collecting and maintaining data. This will cause an increased rate of knowledge build-up and improve conservations. The biodiversity databases in Korea have been scattered among several institutes and local natural history museums with incompatible data types. Therefore, a comprehensive database and a nation wide web portal for biodiversity information is necessary in order to integrate diverse information resources, including molecular and genomic databases. Results The Korean Natural History Research Information System (NARIS) was built and serviced as the central biodiversity information system to collect and integrate the biodiversity data of various institutes and natural history museums in Korea. This database aims to be an integrated resource that contains additional biological information, such as genome sequences and molecular level diversity. Currently, twelve institutes and museums in Korea are integrated by the DiGIR (Distributed Generic Information Retrieval) protocol, with Darwin Core2.0 format as its metadata standard for data exchange. Data quality control and statistical analysis functions have been implemented. In particular, integrating molecular and genetic information from the National Center for Biotechnology Information (NCBI) databases with NARIS was recently accomplished. NARIS can also be extended to accommodate other institutes abroad, and the whole system can be exported to establish local biodiversity management servers. Conclusion A Korean data portal, NARIS, has been developed to efficiently manage and utilize biodiversity data, which includes genetic resources. NARIS aims

  10. Genetic information analysis of bacteriophage phiX 174.

    PubMed

    Figueroa, R; Sepúleda, A; Soto, M A; Tohá, J

    1977-01-01

    The genetic information of phix 174 genome (genes and intermediate segments) is analyzed in terms of its independent (D1 index) and dependent information (D2 and D3 Markovian indexes), as well as of its ability to generate secondary structure. Genes B and E, enclosed in A and D respectively, have: 1) values of D1 and D3 indexes closer to the theoretical random distribution curves than those of (A-B) and (D-E) gene fractions, and 2) in the ability for secondary structure generation minor differences with genes A and D. F leads to G and mRNA start leads to A intermediate segments differ from randomness in their D1 and D2 indexes, but not so much in the D3 values. All these data point out the use of code degeneracy for increasing the genetic information density of the virus.

  11. Honey bees can perform accurately directed waggle dances based solely on information from a homeward trip.

    PubMed

    Edrich, Wolfgang

    2015-10-01

    Honey bees were displaced several 100 m from their hive to an unfamiliar site and provisioned with honey. After feeding, almost two-thirds of the bees flew home to their hive within a 50 min observation time. About half of these returning, bees signalled the direction of the release site in waggle dances thus demonstrating that the dance can be guided entirely by information gathered on a single homeward trip. The likely reason for the bees' enthusiastic dancing on their initial return from this new site was the highly rewarding honeycomb that they were given there. The attractive nature of the site is confirmed by many of these bees revisiting the site and continuing to forage there.

  12. Accurately decoding visual information from fMRI data obtained in a realistic virtual environment

    PubMed Central

    Floren, Andrew; Naylor, Bruce; Miikkulainen, Risto; Ress, David

    2015-01-01

    Three-dimensional interactive virtual environments (VEs) are a powerful tool for brain-imaging based cognitive neuroscience that are presently under-utilized. This paper presents machine-learning based methods for identifying brain states induced by realistic VEs with improved accuracy as well as the capability for mapping their spatial topography on the neocortex. VEs provide the ability to study the brain under conditions closer to the environment in which humans evolved, and thus to probe deeper into the complexities of human cognition. As a test case, we designed a stimulus to reflect a military combat situation in the Middle East, motivated by the potential of using real-time functional magnetic resonance imaging (fMRI) in the treatment of post-traumatic stress disorder. Each subject experienced moving through the virtual town where they encountered 1–6 animated combatants at different locations, while fMRI data was collected. To analyze the data from what is, compared to most studies, more complex and less controlled stimuli, we employed statistical machine learning in the form of Multi-Voxel Pattern Analysis (MVPA) with special attention given to artificial Neural Networks (NN). Extensions to NN that exploit the block structure of the stimulus were developed to improve the accuracy of the classification, achieving performances from 58 to 93% (chance was 16.7%) with six subjects. This demonstrates that MVPA can decode a complex cognitive state, viewing a number of characters, in a dynamic virtual environment. To better understand the source of this information in the brain, a novel form of sensitivity analysis was developed to use NN to quantify the degree to which each voxel contributed to classification. Compared with maps produced by general linear models and the searchlight approach, these sensitivity maps revealed a more diverse pattern of information relevant to the classification of cognitive state. PMID:26106315

  13. Sequencing Genetics Information: Integrating Data into Information Literacy for Undergraduate Biology Students

    ERIC Educational Resources Information Center

    MacMillan, Don

    2010-01-01

    This case study describes an information literacy lab for an undergraduate biology course that leads students through a range of resources to discover aspects of genetic information. The lab provides over 560 students per semester with the opportunity for hands-on exploration of resources in steps that simulate the pathways of higher-level…

  14. Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

    PubMed Central

    Mascalzoni, Deborah; Janssens, A Cecile JW; Stewart, Alison; Pramstaller, Peter; Gyllensten, Ulf; Rudan, Igor; van Duijn, Cornelia M; Wilson, James F; Campbell, Harry; Quillan, Ruth Mc

    2010-01-01

    Family-based research in genetically isolated populations is an effective approach for identifying loci influencing variation in disease traits. In common with all studies in humans, those in genetically isolated populations need ethical approval; however, existing ethical frameworks may be inadequate to protect participant privacy and confidentiality and to address participants' information needs in such populations. Using the ethical–legal guidelines of the Council for International Organizations of Medical Sciences (CIOMS) as a template, we compared the participant information leaflets and consent forms of studies in five European genetically isolated populations to identify additional information that should be incorporated into information leaflets and consent forms to guarantee satisfactorily informed consent. We highlight the additional information that participants require on the research purpose and the reasons why their population was chosen; on the potential risks and benefits of participation; on the opportunities for benefit sharing; on privacy; on the withdrawal of consent and on the disclosure of genetic data. This research raises some important issues that should be addressed properly and identifies relevant types of information that should be incorporated into information leaflets for this type of study. PMID:19826451

  15. Developmental cognitive genetics: how psychology can inform genetics and vice versa.

    PubMed

    Bishop, Dorothy V M

    2006-07-01

    Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.

  16. Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases.

    PubMed

    Na, Rong; Ye, Dingwei; Qi, Jun; Liu, Fang; Lin, Xiaoling; Helfand, Brian T; Brendler, Charles B; Conran, Carly; Gong, Jian; Wu, Yishuo; Gao, Xu; Chen, Yaqing; Zheng, S Lilly; Mo, Zengnan; Ding, Qiang; Sun, Yinghao; Xu, Jianfeng

    2016-01-01

    Genetic risk score (GRS) based on disease risk-associated single nucleotide polymorphisms (SNPs) is an informative tool that can be used to provide inherited information for specific diseases in addition to family history. However, it is still unknown whether only SNPs that are implicated in a specific racial group should be used when calculating GRSs. The objective of this study is to compare the performance of race-specific GRS and nonrace-specific GRS for predicting prostate cancer (PCa) among 1338 patients underwent prostate biopsy in Shanghai, China. A race-specific GRS was calculated with seven PCa risk-associated SNPs implicated in East Asians (GRS7), and a nonrace-specific GRS was calculated based on 76 PCa risk-associated SNPs implicated in at least one racial group (GRS76). The means of GRS7 and GRS76 were 1.19 and 1.85, respectively, in the study population. Higher GRS7 and GRS76 were independent predictors for PCa and high-grade PCa in univariate and multivariate analyses. GRS7 had a better area under the receiver-operating curve (AUC) than GRS76 for discriminating PCa (0.602 vs 0.573) and high-grade PCa (0.603 vs 0.575) but did not reach statistical significance. GRS7 had a better (up to 13% at different cutoffs) positive predictive value (PPV) than GRS76. In conclusion, a race-specific GRS is more robust and has a better performance when predicting PCa in East Asian men than a GRS calculated using SNPs that are not shown to be associated with East Asians.

  17. Genetic Redundancies Enhance Information Transfer in Noisy Regulatory Circuits

    PubMed Central

    Rodrigo, Guillermo; Poyatos, Juan F.

    2016-01-01

    Cellular decision making is based on regulatory circuits that associate signal thresholds to specific physiological actions. This transmission of information is subjected to molecular noise what can decrease its fidelity. Here, we show instead how such intrinsic noise enhances information transfer in the presence of multiple circuit copies. The result is due to the contribution of noise to the generation of autonomous responses by each copy, which are altogether associated with a common decision. Moreover, factors that correlate the responses of the redundant units (extrinsic noise or regulatory cross-talk) contribute to reduce fidelity, while those that further uncouple them (heterogeneity within the copies) can lead to stronger information gain. Overall, our study emphasizes how the interplay of signal thresholding, redundancy, and noise influences the accuracy of cellular decision making. Understanding this interplay provides a basis to explain collective cell signaling mechanisms, and to engineer robust decisions with noisy genetic circuits. PMID:27741249

  18. Privacy, the individual and genetic information: a Buddhist perspective.

    PubMed

    Hongladarom, Soraj

    2009-09-01

    Bioinformatics is a new field of study whose ethical implications involve a combination of bioethics, computer ethics and information ethics. This paper is an attempt to view some of these implications from the perspective of Buddhism. Privacy is a central concern in both computer/information ethics and bioethics, and with information technology being increasingly utilized to process biological and genetic data, the issue has become even more pronounced. Traditionally, privacy presupposes the individual self but as Buddhism does away with the ultimate conception of an individual self, it has to find a way to analyse and justify privacy that does not presuppose such a self. It does this through a pragmatic conception that does not depend on a positing of the substantial self, which is then found to be unnecessary for an effective protection of privacy. As it may be possible one day to link genetic data to individuals, the Buddhist conception perhaps offers a more flexible approach, as what is considered to be integral to an individual person is not fixed in objectivity but depends on convention.

  19. 76 FR 72424 - Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-23

    ... Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry AGENCY... Genetic Testing Registry; Type of Information Collection Request: New collection; Need and Use of Information Collection: Laboratory tests for more than 2,000 genetic conditions are available; however,...

  20. 78 FR 78462 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-26

    ... ADMINISTRATION Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension of... comments about the use of genetic information in the disability determination process via an online forum... comments about the use of genetic information in the disability determination process via an online...

  1. Engagement with Genetic Information and Uptake of Genetic Testing: the Role of Trust and Personal Cancer History.

    PubMed

    Roberts, Megan C; Taber, Jennifer M; Klein, William M

    2017-01-20

    We used national survey data to (1) determine the extent to which individuals trust the sources from which they are most likely to receive information about cancer-related genetic tests (BRCA1/2, Lynch syndrome), (2) examine how level of trust for sources of genetic information might be related to cancer-related genetic testing uptake, and (3) determine whether key factors, such as cancer history and numeracy, moderate the latter association. We used cross-sectional data from the Health Information National Trends Survey. Our study sample included individuals who responded that they had heard or read about genetic tests (n = 1117). All analyses accounted for complex survey design. Although respondents trusted information from health professionals the most, they were significantly less likely to report hearing about genetic testing from such professionals than via television (p < 0.01). Regardless of source, higher levels of trust in the information source from which participants heard about genetic tests were associated with increased odds of genetic testing uptake, particularly among those with a personal cancer history. Numeracy was not associated with genetic testing uptake. Because health professionals were among the most trusted health information sources, they may serve as important brokers of genetic testing information for those with a personal cancer history.

  2. Individual olfactory perception reveals meaningful nonolfactory genetic information.

    PubMed

    Secundo, Lavi; Snitz, Kobi; Weissler, Kineret; Pinchover, Liron; Shoenfeld, Yehuda; Loewenthal, Ron; Agmon-Levin, Nancy; Frumin, Idan; Bar-Zvi, Dana; Shushan, Sagit; Sobel, Noam

    2015-07-14

    Each person expresses a potentially unique subset of ∼ 400 different olfactory receptor subtypes. Given that the receptors we express partially determine the odors we smell, it follows that each person may have a unique nose; to capture this, we devised a sensitive test of olfactory perception we termed the "olfactory fingerprint." Olfactory fingerprints relied on matrices of perceived odorant similarity derived from descriptors applied to the odorants. We initially fingerprinted 89 individuals using 28 odors and 54 descriptors. We found that each person had a unique olfactory fingerprint (P < 10(-10)), which was odor specific but descriptor independent. We could identify individuals from this pool using randomly selected sets of 7 odors and 11 descriptors alone. Extrapolating from this data, we determined that using 34 odors and 35 descriptors we could individually identify each of the 7 billion people on earth. Olfactory perception, however, fluctuates over time, calling into question our proposed perceptual readout of presumably stable genetic makeup. To test whether fingerprints remain informative despite this temporal fluctuation, building on the linkage between olfactory receptors and HLA, we hypothesized that olfactory perception may relate to HLA. We obtained olfactory fingerprints and HLA typing for 130 individuals, and found that olfactory fingerprint matching using only four odorants was significantly related to HLA matching (P < 10(-4)), such that olfactory fingerprints can save 32% of HLA tests in a population screen (P < 10(-6)). In conclusion, a precise measure of olfactory perception reveals meaningful nonolfactory genetic information.

  3. Women's need for information before attending genetic counselling for familial breast or ovarian cancer: a questionnaire, interview, and observational study.

    PubMed Central

    Hallowell, N.; Murton, F.; Statham, H.; Green, J. M.; Richards, M. P.

    1997-01-01

    OBJECTIVES: To describe women's information needs prior to genetic counselling for familial breast or ovarian cancer. DESIGN: Prospective study including semistructured telephone interviews before genetic counselling, observations of consultations, completion of postal questionnaires, and face-to face interviews within two months of counselling. SUBJECTS: 46 women attending genetic counselling for familial breast or ovarian cancer. MAIN OUTCOME MEASURES: Subjects' understanding of process and content of genetic counselling before attending and attitudes about their preparation for the counselling session. RESULTS: Although all women interviewed before the clinic expected to discuss their risk of developing cancer and risk management options, there was evidence of a lack of knowledge about the process and content of genetic counselling, 17 (37%) women said they did not know what else would happen. Most women interviewed after counselling viewed it positively, but 26 (65%) felt they had been inadequately prepared and 11 (28%) felt that their lack of preparation meant that they could not be given an accurate estimation of their risk of cancer. CONCLUSIONS: Some women felt that they did not obtain optimum benefit from genetic counselling because they were inadequately prepared for it. We suggest that cancer family history clinics should provide women with written information about the process and content of genetic counselling before their clinic attendance. PMID:9022494

  4. How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

    PubMed Central

    Rini, Christine; Bernhardt, Barbara A.; Roberts, J. Scott; Christensen, Kurt D.; Evans, James P.; Brothers, Kyle B.; Roche, Myra I.; Berg, Jonathan S.; Henderson, Gail E.

    2016-01-01

    Next generation genomic sequencing technologies (including whole genome or whole exome sequencing) are being increasingly applied to clinical care. Yet, the breadth and complexity of sequencing information raise questions about how best to communicate and return sequencing information to patients and families in ways that facilitate comprehension and optimal health decisions. Obtaining answers to such questions will require multidisciplinary research. In this paper, we focus on how psychological science research can address questions related to clinical genomic sequencing by explaining emotional, cognitive, and behavioral processes in response to different types of genomic sequencing information (e.g., diagnostic results and incidental findings). We highlight examples of psychological science that can be applied to genetic counseling research to inform the following questions: (1) What factors influence patients' and providers' informational needs for developing an accurate understanding of what genomic sequencing results do and do not mean?; (2) How and by whom should genomic sequencing results be communicated to patients and their family members?; and (3) How do patients and their families respond to uncertainties related to genomic information? PMID:25488723

  5. Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code

    PubMed Central

    Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

    2016-01-01

    Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNALysUUU with hypermodified 5-methylaminomethyl-2-thiouridine (mnm5s2U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine–pyrimidine mismatches. We show that mnm5s2U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism. PMID:26791911

  6. Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing

    PubMed Central

    Bujakowska, Kinga M.; Sousa, Maria E.; Fonseca-Kelly, Zoë D.; Taub, Daniel G.; Janessian, Maria; Wang, Dan Yi; Au, Elizabeth D.; Sims, Katherine B.; Sweetser, David A.; Fulton, Anne B.; Liu, Qin; Wiggs, Janey L.; Gai, Xiaowu; Pierce, Eric A.

    2015-01-01

    Purpose Next-generation sequencing (NGS) based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques have not been fully defined with regard to test accuracy and reproducibility. Methods We developed a targeted enrichment and NGS approach for genetic diagnostic testing of patients with inherited eye disorders, including inherited retinal degenerations, optic atrophy and glaucoma. In preparation for providing this Genetic Eye Disease (GEDi) test on a CLIA-certified basis, we performed experiments to measure the sensitivity, specificity, reproducibility as well as the clinical sensitivity of the test. Results The GEDi test is highly reproducible and accurate, with sensitivity and specificity for single nucleotide variant detection of 97.9% and 100%, respectively. The sensitivity for variant detection was notably better than the 88.3% achieved by whole exome sequencing (WES) using the same metrics, due to better coverage of targeted genes in the GEDi test compared to commercially available exome capture sets. Prospective testing of 192 patients with IRDs indicated that the clinical sensitivity of the GEDi test is high, with a diagnostic rate of 51%. Conclusion The data suggest that based on quantified performance metrics, selective targeted enrichment is preferable to WES for genetic diagnostic testing. PMID:25412400

  7. Genetic screening, health care and the insurance industry. Should genetic information be made available to insurers?

    PubMed

    Ossa, Diego F; Towse, Adrian

    2004-06-01

    The potential use of genetic tests in insurance has raised concerns about discrimination and individuals losing access to health care either because of refusals to test for treatable diseases, or because test-positives cannot afford premiums. Governments have so far largely sought to restrict the use of genetic information by insurance companies. To date the number of tests available with significant actuarial value is limited. However, this is likely to change, raising more clearly the question as to whether the social costs of adverse selection outweigh the social costs of individuals not accessing health care for fear of the consequences of test information being used in insurance markets. In this contribution we set out the policy context and model the potential trade-offs between the losses faced by insurers from adverse selection by insurees (which will increase premiums reducing consumer welfare) and the detrimental health effects that may result from persons refusing to undergo tests that could identify treatable health conditions. It argues that the optimal public policy on genetic testing should reflect overall societal benefit, taking account of these trade-offs. Based on our model, the factors that influence the outcome include: the size of and value attached to the health gains from treatment; deterrent effects of a disclosure requirement on testing for health reasons; incidence of the disease; propensity of test-positives to adverse select; policy value adverse selectors buy in a non-disclosure environment; and price elasticity of demand for insurance. Our illustrative model can be used as a benchmark for developing other scenarios or incorporating real data in order to address the impact of different policies on disclosure and requirement to test.

  8. DNA extraction techniques compared for accurate detection of genetically modified organisms (GMOs) in maize food and feed products.

    PubMed

    Turkec, Aydin; Kazan, Hande; Karacanli, Burçin; Lucas, Stuart J

    2015-08-01

    In this paper, DNA extraction methods have been evaluated to detect the presence of genetically modified organisms (GMOs) in maize food and feed products commercialised in Turkey. All the extraction methods tested performed well for the majority of maize foods and feed products analysed. However, the highest DNA content was achieved by the Wizard, Genespin or the CTAB method, all of which produced optimal DNA yield and purity for different maize food and feed products. The samples were then screened for the presence of GM elements, along with certified reference materials. Of the food and feed samples, 8 % tested positive for the presence of one GM element (NOS terminator), of which half (4 % of the total) also contained a second element (the Cauliflower Mosaic Virus 35S promoter). The results obtained herein clearly demonstrate the presence of GM maize in the Turkish market, and that the Foodproof GMO Screening Kit provides reliable screening of maize food and feed products.

  9. Consumer perception of genetically modified organisms and sources of information.

    PubMed

    Wunderlich, Shahla; Gatto, Kelsey A

    2015-11-01

    Genetically modified organisms (GMOs) have been available for commercial purchase since the 1990s, allowing producers to increase crop yields through bioengineering that creates herbicide-resistant and insect-resistant varieties. However, consumer knowledge about GMOs has not increased at the same rate as the adoption of GMO crops. Consumers worldwide are displaying limited understanding, misconceptions, and even unfamiliarity with GMO food products. Many consumers report that they receive information about GMO food products from the media, Internet, and other news sources. These sources may be less reliable than scientific experts whom consumers trust more to present the facts. Although many in the United States support mandatory GMO labeling (similar to current European standards), consumer awareness of current GMO labeling is low. A distinction must also be made between GMO familiarity and scientific understanding, because those who are more familiar with it tend to be more resistant to bioengineering, whereas those with higher scientific knowledge scores tend to have less negative attitudes toward GMOs. This brings to question the relation between scientific literacy, sources of information, and overall consumer knowledge and perception of GMO foods.

  10. [The substance of genetic information--nucleic acids].

    PubMed

    Brdička, R

    2012-01-01

    If we look at the history of our knowledge of nucleic acids, we would see in the distant past of 140 years Friedrich Miescher who had identified the acidic substance within the cell nucleus, which he called nuclein. About 70 years after his initial observation, this substance was connected with genetic information. This very substantial finding happened during the World War II. This was the impulse that research of nucleic acids received to speed up continuously growing mountain of information, which is more and more difficult to understand. Another eruption of new information about our genome was the result of ten years of intensive cooperation of many manufacturers divided into two competitive blocks which offered us knowledge of nucleotide sequence of all 46 DNA molecules. The year 2000 became the landmark marking the start of the postgenomic era. It did not mean that human genome was totally explored, but the cornerstone has been settled. Since then, we could concentrate our efforts on variability; use of the project of 1,000 genomes brought many important findings, eg. copy number variability (CNV) exceeds the single nucleotide polymophisms (SNP). Also intergenomic relationships, studies on function and pathways began to be much more understandable by elucidation of the genome primary structure. NGS as a tool also accelerated the epigenetic research. All this improved molecular diagnostics by discovering many new markers playing their role in disease and treatment and allowed us to enter the field of multifactorial illnesses including cancer. The progress in diagnostic technologies which has happened during the last decade forced our research teams to include other professions - eg. bioinformatics.

  11. Genetics and immunotherapy: using the genetic landscape of gliomas to inform management strategies.

    PubMed

    Wang, Joanna Y; Bettegowda, Chetan

    2015-07-01

    Recent work in genetics has identified essential driver mutations in gliomas and has profoundly changed our understanding of tumorigenesis. New insights into the molecular basis of glioma has informed the development of therapies demonstrating considerable potential, including immunotherapeutic approaches such as peptide and dendritic cell vaccines against EGFRvIII. However, the selective targeting of one component of a dysregulated pathway may be inadequate for a durable clinical response, given the intratumoral heterogeneity of glioblastoma (GBM) and hypermutated profiles displayed by tumor recurrences. Immune checkpoint blockade with anti-cytotoxic T lymphocyte antigen-4 (CTLA) and anti-programmed cell death 1 (PD-1) have demonstrated encouraging results in clinical trials with other solid tumors, and recent data suggest that this type of therapy may be particularly useful for tumors with high mutational burdens. Although the survival for patients with GBM has remains grim, the use of immunotherapy may finally change patient outcomes.

  12. Identifying clients who might benefit from genetic services and information.

    PubMed

    Gaff, Clara L

    This article is the first in a series of seven which examine competence standards for nurses, midwives and health visitors in relation to genetics. The author indicates who might benefit from a genetic consultation and describes the use of a family history--in the form of a family tree--to identify these clients. Client expectations of a genetic consultation and managing these are also discussed.

  13. Biological Information Transfer Beyond the Genetic Code: The Sugar Code

    NASA Astrophysics Data System (ADS)

    Gabius, H.-J.

    In the era of genetic engineering, cloning, and genome sequencing the focus of research on the genetic code has received an even further accentuation in the public eye. In attempting, however, to understand intra- and intercellular recognition processes comprehensively, the two biochemical dimensions established by nucleic acids and proteins are not sufficient to satisfactorily explain all molecular events in, for example, cell adhesion or routing. The consideration of further code systems is essential to bridge this gap. A third biochemical alphabet forming code words with an information storage capacity second to no other substance class in rather small units (words, sentences) is established by monosaccharides (letters). As hardware oligosaccharides surpass peptides by more than seven orders of magnitude in the theoretical ability to build isomers, when the total of conceivable hexamers is calculated. In addition to the sequence complexity, the use of magnetic resonance spectroscopy and molecular modeling has been instrumental in discovering that even small glycans can often reside in not only one but several distinct low-energy conformations (keys). Intriguingly, conformers can display notably different capacities to fit snugly into the binding site of nonhomologous receptors (locks). This process, experimentally verified for two classes of lectins, is termed "differential conformer selection." It adds potential for shifts of the conformer equilibrium to modulate ligand properties dynamically and reversibly to the well-known changes in sequence (including anomeric positioning and linkage points) and in pattern of substitution, for example, by sulfation. In the intimate interplay with sugar receptors (lectins, enzymes, and antibodies) the message of coding units of the sugar code is deciphered. Their recognition will trigger postbinding signaling and the intended biological response. Knowledge about the driving forces for the molecular rendezvous, i

  14. Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.

    PubMed

    Delgado-Escueta, Antonio V; Bourgeois, Blaise F D

    2008-12-01

    PRO: In the past decade, genotyping has started to help the neurologic practitioner treat patients with three types of epilepsy causing mutations, namely (1) SCN1A, a sodium channel gene mutated in Dravet's sporadic severe myoclonic epilepsy of infancy (SMEI and SMEB); (2) laforin (dual specificity protein phosphatase) and malin (ubiquitin E3 ligase) in Lafora progressive myoclonic epilepsy (PME); and (3) cystatin B in Unverricht-Lundborg type of PME. Laforin, malin, and cystatin B are non-ion channel gene mutations that cause PME. Genotyping ensures accurate diagnosis, helps treatment and genetic counseling, psychological and social help for patients and families, and directs families to organizations devoted to finding cures for specific epilepsy diseases. In SCN1A and cystatin B mutations, treatment with sodium channel blockers (phenytoin, carbamazepine, oxcarbazepine, lamotrigine) should be avoided. Because of early and correct diagnosis by genotyping of SCN1A mutations, the avoidance of sodium channel blockers, and aggressive treatment of prolonged convulsive status, there is hope that Dravet's syndrome may not be as severe as observed in all past reports. Genotyping also identifies nonsense mutations in Lafora PME. Nonsense mutations can be corrected by premature stop codon readthrough drugs such as gentamicin. The community practitioner together with epilepsy specialists in PME can work together and acquire gentamicin (Barton-Davis et al., 1999) for "compassionate use" in Lafora PME, a generalized lysosome multiorgan storage disorder that is invariably fatal. In Unverricht-Lundborg PME, new cohorts with genotyped cystatin B mutations have led to the chronic use of antioxidant N-acetylcysteine and combination valproate clobazam or clonazepam plus antimyoclonic drugs topiramate, zonisamide, piracetam, levetiracetam, or brivaracetam. These cohorts have minimal ataxia and no dementia, questioning whether the syndrome is truly progressive. In conclusion, not only

  15. Advancing civil rights, the next generation: the Genetic Information Nondiscrimination Act of 2008 and beyond.

    PubMed

    Tan, Morse Hyun-Myung

    2009-01-01

    On the leading edge of civil rights law and bioethics/healthcare law, this Article provides the first law review analysis of the recently passed Genetic Information Nondiscrimination Act (GINA) of 2008, which extends important protection against discrimination in health insurance and employment. GINA also bolsters genetic research by freeing research subjects from the threat of genetic discrimination. This Article demonstrates how GINA further protects this society against the rising dangers of genetic discrimination beyond previously existing federal and state law.

  16. A Theory of Information Genetics: How Four Subforces Generate Information and the Implications for Total Quality Knowledge Management.

    ERIC Educational Resources Information Center

    Tsai, Bor-sheng

    2002-01-01

    Proposes a model called information genetics to elaborate on the origin of information generating. Explains conceptual and data models; and describes a software program that was developed for citation data mining, infomapping, and information repackaging for total quality knowledge management in Web representation. (Contains 112 references.)…

  17. Economic advantage of pharmacogenomics - clinical trials with genetic information.

    PubMed

    Ohashi, Wataru; Mizushima, Hiroshi; Tanaka, Hiroshi

    2008-01-01

    The purpose of this study is to clarify the benefit and loss for the pharmaceutical companies when they adopt introducing pharmacogenomics in their clinical trials (in the following description, clinical trials by using pharmacogenomics is called "pgx clinical trial"), that is, when they use genetic information in their clinical trials. Particularly, the benefit for the pharmaceutical companies in terms of following two points is analyzed. 1. Development cost of new drug and period of clinical trial can be reduced because a clinical trial needs less subjects, 2. The new drug can be placed on the market earlier because the development period can be shortened. A survey conducted by Japan Pharmaceutical Manufacturers Association revealed that the pharmaceutical companies in Japan are interested in "pgx clinical trial". Specifically, 95% of the member companies (n=19) of the Association replied that the establishment of a guideline for pgx clinical trial by regulatory authorities are highly desirable. However, 65% of them (n=13) also replied that pgx clinical trial is difficult for the time being. It can be concluded that the pharmaceutical companies are positive about pgx clinical trial, but they cannot take a step towards it for several reasons: some of them may be worried their sales for non-responders will be reduced, poor understanding of pgx among the concerned parties, and not matured methodology of pgx clinical trial. This study shows that the advantage of pgx clinical trial outweighs its disadvantage. The sales may decrease because the drug is not used for non-responders, however, the number of subjects necessary for a clinical trial can be reduced, study period can be shortened and the drug can be marketed earlier. Furthermore, adverse events (AE) and adverse drug reactions (ADR) during the clinical trial and post-marketing phase can be markedly reduced. This represents a great benefit for the patients, pharmaceutical companies and the society as a whole.

  18. In vitro selection with artificial expanded genetic information systems.

    PubMed

    Sefah, Kwame; Yang, Zunyi; Bradley, Kevin M; Hoshika, Shuichi; Jiménez, Elizabeth; Zhang, Liqin; Zhu, Guizhi; Shanker, Savita; Yu, Fahong; Turek, Diane; Tan, Weihong; Benner, Steven A

    2014-01-28

    Artificially expanded genetic information systems (AEGISs) are unnatural forms of DNA that increase the number of independently replicating nucleotide building blocks. To do this, AEGIS pairs are joined by different arrangements of hydrogen bond donor and acceptor groups, all while retaining their Watson-Crick geometries. We report here a unique case where AEGIS DNA has been used to execute a systematic evolution of ligands by exponential enrichment (SELEX) experiment. This AEGIS-SELEX was designed to create AEGIS oligonucleotides that bind to a line of breast cancer cells. AEGIS-SELEX delivered an AEGIS aptamer (ZAP-2012) built from six different kinds of nucleotides (the standard G, A, C, and T, and the AEGIS nonstandard P and Z nucleotides, the last having a nitro functionality not found in standard DNA). ZAP-2012 has a dissociation constant of 30 nM against these cells. The affinity is diminished or lost when Z or P (or both) is replaced by standard nucleotides and compares well with affinities of standard GACT aptamers selected against cell lines using standard SELEX. The success of AEGIS-SELEX relies on various innovations, including (i) the ability to synthesize GACTZP libraries, (ii) polymerases that PCR amplify GACTZP DNA with little loss of the AEGIS nonstandard nucleotides, and (iii) technologies to deep sequence GACTZP DNA survivors. These results take the next step toward expanding the power and utility of SELEX and offer an AEGIS-SELEX that could possibly generate receptors, ligands, and catalysts having sequence diversities nearer to that displayed by proteins.

  19. 45 CFR 148.180 - Prohibition of discrimination based on genetic information.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... adult onset diabetes mellitus (Type 2 diabetes). B provides this information voluntarily and not in... premium to account for B's genetic predisposition to develop Type 2 diabetes in the future. (ii... Type 2 diabetes, which is genetic information with respect to B. Since there is no manifestation of...

  20. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice

    PubMed Central

    Ashtiani, Setareh; Makela, Nancy; Carrion, Prescilla; Austin, Jehannine

    2014-01-01

    Purpose Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. Methods We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified. Results 61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Conclusion Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. PMID:24706543

  1. Facilitating informed decision making about breast cancer risk and genetic counseling among women calling the NCI's Cancer Information Service.

    PubMed

    Miller, Suzanne M; Fleisher, Linda; Roussi, Pagona; Buzaglo, Joanne S; Schnoll, Robert; Slater, Elyse; Raysor, Susan; Popa-Mabe, Melania

    2005-01-01

    Despite increased interest among the public in breast cancer genetic risk and genetic testing, there are limited services to help women make informed decisions about genetic testing. This study, conducted with female callers (N = 279) to the National Cancer Institute's (NCI's) Atlantic Region Cancer Information Service (CIS), developed and evaluated a theory-based, educational intervention designed to increase callers' understanding of the following: (a) the kinds of information required to determine inherited risk; (b) their own personal family history of cancer; and (c) the benefits and limitations of genetic testing. Callers requesting information about breast/ovarian cancer risk, risk assessment services, and genetic testing were randomized to either: (1) standard care or (2) an educational intervention. Results show that the educational intervention reduced intention to obtain genetic testing among women at average risk and increased intention among high-risk women at 6 months. In addition, high monitors, who typically attend to and seek information, demonstrated greater increases in knowledge and perceived risk over the 6-month interval than low monitors, who typically are distracted from information. These findings suggest that theoretically designed interventions can be effective in helping women understand their cancer risk and appropriate risk assessment options and can be implemented successfully within a service program like the CIS.

  2. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  3. Informed consent, participation in, and withdrawal from a population based cohort study involving genetic analysis

    PubMed Central

    Matsui, K; Kita, Y; Ueshima, H

    2005-01-01

    Design: Descriptive analyses. Setting and participants: The study evaluated two non-genetic subcohorts comprising 3166 people attending for a health checkup during 2002, and two genetic subcohorts comprising 2195 people who underwent a checkup during 2003. Main outcome measurements: Analysis endpoints were differences in participation rates between the non-genetic and genetic subcohorts, differences between providing non-extensive and extensive preliminary information, and changes in participation status between baseline and at 6 months. Results: Participation rates in the genetic subcohorts were 4·7–9·3% lower than those in the non-genetic subcohorts. The odds ratios (OR) of participation in genetic research were between 0·60 and 0·77, and the OR for withdrawal from the research was over 7·70; providing preliminary extensive information about genetic research reduced the withdrawal risks (OR 0·15 for all dependent variables) but worsened participation rates (OR 0·63–0·74). Conclusions: The general population responded sceptically towards genetic research. It is crucial that genetic researchers utilise an informative and educational consent process worthy of public trust. PMID:15994356

  4. The commercialization of human genetic information and related circumstances within Turkish law.

    PubMed

    Memiş, Tekin

    2011-01-01

    Today, human genetic information is used for commercial purposes as well. This means, based on the case, the direct or indirect commercialization of genetic information. In this study, this specific issue is analyzed in light of the new legal regulations as to the subject in the Turkish Law. Specifically, this study focuses on the issue of whether the commercialization of genetic information is allowed under the Turkish Law. This study also attempts to clarify the issue of whether there is any limitations for the commercialization of genetic information in the Turkish Law provided that the commercialization of genetic information is permitted. Prior to this legal analysis, the problems of the legal ownership for genetic information and of whether genetic information should be considered as an organ of human body is discussed. Accordingly, relevant Turkish laws and regulations are individually analyzed within this context. In the mean time legal regulations of some countries in this respect are taken into account with a comparative approach. In the end a general evaluation and suggestions are provided to the reader.

  5. 29 CFR 1635.8 - Acquisition of genetic information.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... who voluntarily disclose a family medical history of diabetes, heart disease, or high blood pressure... individual's family medical history, the results of an individual's or family member's genetic tests, the... medical history directly from an individual following a general health inquiry (e.g., “How are you?”...

  6. Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

    PubMed

    Borate, Bhavesh; Baxevanis, Andreas D

    2009-09-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on and clinical aspects of genetic disorders.

  7. Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

    PubMed

    Baxevanis, Andreas D

    2012-04-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on the clinical aspects of genetic disorders.

  8. The Significance of Content Knowledge for Informal Reasoning regarding Socioscientific Issues: Applying Genetics Knowledge to Genetic Engineering Issues

    ERIC Educational Resources Information Center

    Sadler, Troy D.; Zeidler, Dana L.

    2005-01-01

    This study focused on informal reasoning regarding socioscientific issues. It sought to explore how content knowledge influenced the negotiation and resolution of contentious and complex scenarios based on genetic engineering. Two hundred and sixty-nine students drawn from undergraduate natural science and nonnatural science courses completed a…

  9. On Using Genetic Algorithms for Multimodal Relevance Optimization in Information Retrieval.

    ERIC Educational Resources Information Center

    Boughanem, M.; Christment, C.; Tamine, L.

    2002-01-01

    Presents a genetic relevance optimization process performed in an information retrieval system that uses genetic techniques for solving multimodal problems (niching) and query reformulation techniques. Explains that the niching technique allows the process to reach different relevance regions of the document space, and that query reformulations…

  10. An Introduction to Genetic Algorithms and to Their Use in Information Retrieval.

    ERIC Educational Resources Information Center

    Jones, Gareth; And Others

    1994-01-01

    Genetic algorithms, a class of nondeterministic algorithms in which the role of chance makes the precise nature of a solution impossible to guarantee, seem to be well suited to combinatorial-optimization problems in information retrieval. Provides an introduction to techniques and characteristics of genetic algorithms and illustrates their…

  11. A Genetically Informed Study of the Intergenerational Transmission of Marital Instability

    ERIC Educational Resources Information Center

    D'Onofrio, Brian M.; Turkheimer, Eric; Emery, Robert E.; Harden, K. Paige; Slutske, Wendy S.; Heath, Andrew C.; Madden, Pamela A. F.; Martin, Nicholas G.

    2007-01-01

    Environmental or genetic influences, or both could account for the increased risk of divorce among the offspring of separated parents. Previous studies have used covariates to statistically control for confounds, but the present research is the first genetically informed study of the topic. The investigation used the Children of Twins Design with…

  12. Genetically Informative Research on Adolescent Substance Use: Methods, Findings, and Challenges

    ERIC Educational Resources Information Center

    Lynskey, Michael T.; Agrawal, Arpana; Heath, Andrew C.

    2010-01-01

    Objective: To provide an overview of the genetic epidemiology of substance use and misuse in adolescents. Method: A selective review of genetically informative research strategies, their limitations, and key findings examining issues related to the heritability of substance use and substance use disorders in children and adolescents is presented.…

  13. The Effect of Genetic Risk Information and Health Risk Assessment on Compliance with Preventive Behaviors.

    ERIC Educational Resources Information Center

    Bamberg, Richard; And Others

    1990-01-01

    Results from a study of 82 males provide no statistical support and limited encouragement that genetic risk information may motivate persons to make positive changes in preventive health behaviors. Health risk assessments were used to identify subjects at risk for coronary heart disease or lung cancer because of genetic factors. (IAH)

  14. A Fuzzy Genetic Algorithm Approach to an Adaptive Information Retrieval Agent.

    ERIC Educational Resources Information Center

    Martin-Bautista, Maria J.; Vila, Maria-Amparo; Larsen, Henrik Legind

    1999-01-01

    Presents an approach to a Genetic Information Retrieval Agent Filter (GIRAF) that filters and ranks documents retrieved from the Internet according to users' preferences by using a Genetic Algorithm and fuzzy set theory to handle the imprecision of users' preferences and users' evaluation of the retrieved documents. (Author/LRW)

  15. A Genetically Informed Study of Associations between Family Functioning and Child Psychosocial Adjustment

    ERIC Educational Resources Information Center

    Schermerhorn, Alice C.; D'Onofrio, Brian M.; Turkheimer, Eric; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

    2011-01-01

    Research has documented associations between family functioning and offspring psychosocial adjustment, but questions remain regarding whether these associations are partly due to confounding genetic factors and other environmental factors. The current study used a genetically informed approach, the Children of Twins design, to explore the…

  16. Legal rules and industry norms: the impact of laws restricting health insurers' use of genetic information.

    PubMed

    Hall, M A

    1999-01-01

    Since 1991, twenty-eight states have enacted laws that prohibit insurers' use of genetic information in pricing, issuing, or structuring health insurance. This article evaluates whether these laws reduce the extent of genetic discrimination by health insurers. Using multiple data sources, it concludes that there are almost no well-documented cases of health insurers asking for or using pre-symptomatic genetic test results in their underwriting decisions either before or after these laws, or in states with or without these laws. At present, health insurers are not thinking about or interested in using genetic information of this sort. Using this information is not cost effective and is not seen as contributing significantly to underwriting accuracy. However, if genetic testing information were easily available, some health insurers would consider using it in some fashion if that were legal. In the future, such information could become much more relevant to health insurers than it is now. Therefore, the major effect of these laws is to make it less likely that insurers will use genetic information in the future. Although insurers and agents are only vaguely aware of these laws, the laws have helped to convince the industry that it is not appropriate or socially legitimate to use this information. Thus, these laws have caused the insurance industry to embrace more socially oriented norms and attitudes.

  17. Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice?

    PubMed

    Vavolizza, Rick D; Kalia, Isha; Erskine Aaron, Kathleen; Silverstein, Louise B; Barlevy, Dorit; Wasserman, David; Walsh, Christine; Marion, Robert W; Dolan, Siobhan M

    2015-08-01

    Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member's cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants' comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.

  18. The role of cognitive switching in head-up displays. [to determine pilot ability to accurately extract information from either of two sources

    NASA Technical Reports Server (NTRS)

    Fischer, E.

    1979-01-01

    The pilot's ability to accurately extract information from either one or both of two superimposed sources of information was determined. Static, aerial, color 35 mm slides of external runway environments and slides of corresponding static head-up display (HUD) symbology were used as the sources. A three channel tachistoscope was utilized to show either the HUD alone, the scene alone, or the two slides superimposed. Cognitive performance of the pilots was assessed by determining the percentage of correct answers given to two HUD related questions, two scene related questions, or one HUD and one scene related question.

  19. Counsellee's experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information.

    PubMed

    Stefansdottir, Vigdis; Johannsson, Oskar Th; Skirton, Heather; Jonsson, Jon J

    2016-07-01

    While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nation-wide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees. Four online focus groups with 19 participants were formed, using an asynchronous posting method. Participants were encouraged to discuss their responses to questions posted on the website by the researcher. The main themes arising were motivation, information and trust, impact of testing and emotional responses. Most of the participants expressed trust in the method of using electronically generated pedigrees, although some voiced worries about information safety. Many experienced worry and anxiety while waiting for results of genetic testing, but limited survival guilt was noted. Family communication was either unchanged or improved following genetic counselling. The use of electronically generated pedigrees was well received by participants, and they trusted the information obtained via the databases. Age did not seem to influence responses. These results may be indicative of the particular culture in Iceland, where genealogical information is well known and freely shared. Further studies are needed to determine whether use of similar approaches to genealogical information gathering may be acceptable elsewhere.

  20. Imaging or Imagining? A Neuroethics Challenge Informed by Genetics

    PubMed Central

    Illes, Judy; Racine, Eric

    2006-01-01

    From a twenty-first century partnership between bioethics and neuroscience, the modern field of neuroethics is emerging, and technologies enabling functional neuroimaging with unprecedented sensitivity have brought new ethical, social and legal issues to the forefront. Some issues, akin to those surrounding modern genetics, raise critical questions regarding prediction of disease, privacy and identity. However, with new and still-evolving insights into our neurobiology and previously unquantifiable features of profoundly personal behaviors such as social attitude, value and moral agency, the difficulty of carefully and properly interpreting the relationship between brain findings and our own self-concept is unprecedented. Therefore, while the ethics of genetics provides a legitimate starting point—even a backbone—for tackling ethical issues in neuroimaging, they do not suffice. Drawing on recent neuroimaging findings and their plausible real-world applications, we argue that interpretation of neuroimaging data is a key epistemological and ethical challenge. This challenge is two-fold. First, at the scientific level, the sheer complexity of neuroscience research poses challenges for integration of knowledge and meaningful interpretation of data. Second, at the social and cultural level, we find that interpretations of imaging studies are bound by cultural and anthropological frameworks. In particular, the introduction of concepts of self and personhood in neuroimaging illustrates the interaction of interpretation levels and is a major reason why ethical reflection on genetics will only partially help settle neuroethical issues. Indeed, ethical interpretation of such findings will necessitate not only traditional bioethical input but also a wider perspective on the construction of scientific knowledge. PMID:16036688

  1. Imaging or imagining? A neuroethics challenge informed by genetics.

    PubMed

    Illes, Judy; Racine, Eric

    2005-01-01

    From a twenty-first century partnership between bioethics and neuroscience, the modern field of neuroethics is emerging, and technologies enabling functional neuroimaging with unprecedented sensitivity have brought new ethical, social and legal issues to the forefront. Some issues, akin to those surrounding modern genetics, raise critical questions regarding prediction of disease, privacy and identity. However, with new and still-evolving insights into our neurobiology and previously unquantifiable features of profoundly personal behaviors such as social attitude, value and moral agency, the difficulty of carefully and properly interpreting the relationship between brain findings and our own self-concept is unprecedented. Therefore, while the ethics of genetics provides a legitimate starting point--even a backbone--for tackling ethical issues in neuroimaging, they do not suffice. Drawing on recent neuroimaging findings and their plausible real-world applications, we argue that interpretation of neuroimaging data is a key epistemological and ethical challenge. This challenge is two-fold. First, at the scientific level, the sheer complexity of neuroscience research poses challenges for integration of knowledge and meaningful interpretation of data. Second, at the social and cultural level, we find that interpretations of imaging studies are bound by cultural and anthropological frameworks. In particular, the introduction of concepts of self and personhood in neuroimaging illustrates the interaction of interpretation levels and is a major reason why ethical reflection on genetics will only partially help settle neuroethical issues. Indeed, ethical interpretation of such findings will necessitate not only traditional bioethical input but also a wider perspective on the construction of scientific knowledge.

  2. [The lack of information on genetically modified organisms in Brazil].

    PubMed

    Ribeiro, Isabelle Geoffroy; Marin, Victor Augustus

    2012-02-01

    This article presents a review about the labeling of products that have Genetically Modified Organisms (GMO), also called transgenic elements in their composition. It addresses the conventions, laws and regulations relating to such products currently governing the market, the adequacy of these existing standards and their acceptance by society. It also examines the importance of the cautionary principle when assessing the application of new technologies or technologies where little is known or where there is no relevant scientific knowledge about the potential risks to the environment, human health and society.

  3. The likely financial effects on individuals, industry and commerce of the use of genetic information.

    PubMed

    Ross, T

    1997-08-29

    In this paper I look at the financial implications of genetic testing, particularly in the employment and pensions fields. I have generally not covered life insurance, as that is covered in other papers in this Discussion Meeting. However, the issues are similar, although the emphasis is different. Inevitably there is an element of speculation involved; genetic testing is in its infancy and so we cannot predict either what information we will be able to obtain through genetic testing, nor the uses that may be devised for this information.

  4. Pharmacogenetics: Using Genetic Information to Guide Drug Therapy

    PubMed Central

    CHANG, KU-LANG; WEITZEL, KRISTIN; SCHMIDT, SIEGFRIED

    2016-01-01

    Clinical pharmacogenetics, the use of genetic data to guide drug therapy decisions, is beginning to be used for medications commonly prescribed by family physicians. However, clinicians are largely unfamiliar with principles supporting clinical use of this type of data. For example, genetic variability in the cytochrome P450 2D6 drug metabolizing enzyme can alter the clinical effects of some opioid analgesics (e.g., codeine, tramadol), whereas variability in the CYP2C19 enzyme affects the antiplatelet agent clopidogrel. If testing is performed, patients who are ultrarapid or poor metabolizers of CYP2D6 should avoid codeine use (and possibly tramadol, hydrocodone, and oxycodone) because of the potential for increased toxicity or lack of effectiveness. Patients undergoing percutaneous coronary intervention for acute coronary syndromes who are known to be poor metabolizers of CYP2C19 should consider alternate antiplatelet therapy (e.g., ticagrelor, prasugrel). Some guidelines are available that address appropriate drug therapy changes, and others are in development. Additionally, a number of clinical resources are emerging to support family physicians in the use of pharmacogenetics. When used appropriately, pharmacogenetic testing can be a practical tool to optimize drug therapy and avoid medication adverse effects. PMID:26447442

  5. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

    PubMed

    Geransar, Rose; Einsiedel, Edna

    2008-03-01

    Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.

  6. You are born with your genes: justice and protection against discrimination in the use of genetic information.

    PubMed

    Francis, Leslie P

    2010-01-01

    Genetic information poses an apparent paradox for justice in health care. On the one hand, genetic information seems to be exactly the kind of information that it is unjust to take into account in the distribution of important goods. On the other hand, genetic information may increasingly become useful in individual patient care as evidence for personalized medicine increases. Although it is important to emphasize the difference between genetic information and the social construct of race, nonetheless, the historical interplay between discrimination based on assumptions about heritability and discrimination based on race are significant. Thus, this article defends the importance of paying very close attention to protections in the use of genetic information. Three current examples of inadequate protection are cited. First, informed consent to genetic testing should incorporate potential confidentiality risks raised by this information. Second, the Genetic Information Nondiscrimination Act is too porous to protect employees from their employers' possession of genetic information; if such information is used in discriminatory ways, burdens of seeking protection then fall on the employees. More stringent strategies for protecting information are thus desirable. Finally, current designs of interoperable health records fail to allow for the sequestration of genetic information. Efforts to develop such sequestration techniques should be encouraged; among other benefits, they would be helpful in shielding genetic information from employers.

  7. Toward a genetically-informed model of borderline personality disorder.

    PubMed

    Livesley, John

    2008-02-01

    This article describes a conceptual framework for describing borderline personality disorder (BPD) based on empirical studies of the phenotypic structure and genetic architecture of personality. The proposed phenotype has 2 components: (1) a description of core self and interpersonal pathology-the defining features of personality disorder-as these features are expressed in the disorder; and (2) a set of traits based on the anxious-dependent or emotional dysregulation factor of the four-factor model of PD. Four kinds of traits are described: emotional (anxiousness, emotional reactivity, emotional intensity, and pessimistic-anhedonia), interpersonal (submissiveness, insecure attachment, social apprehensiveness, and need for approval), cognitive (cognitive dysregulation), and self-harm (behaviors and ideas). Formulation of the phenotype was guided by the conceptualization of personality as a system of interrelated sub-systems. The psychopathology associated with BPD involves most components of the system. The trait structure of the disorder is assumed to reflect the genetic architecture of personality and individual traits are assumed to be based on adaptive mechanisms. It is suggested that borderline traits are organized around the trait of anxiousness and that an important feature of BPD is dysregulation of the threat management system leading to pervasive fearfulness and unstable emotions. The interpersonal traits are assumed to be heritable characteristics that evolved to deal with interpersonal threats that arose as a result of social living. The potential for unstable and conflicted interpersonal relationships that is inherent to the disorder is assumed to result from the interplay between the adaptive structure of personality and psychosocial adversity. The etiology of the disorder is discussed in terms of biological and environmental factors associated with each component of the phenotype.

  8. The Lunar Laser Ranging Experiment: Accurate ranges have given a large improvement in the lunar orbit and new selenophysical information.

    PubMed

    Bender, P L; Currie, D G; Poultney, S K; Alley, C O; Dicke, R H; Wilkinson, D T; Eckhardt, D H; Faller, J E; Kaula, W M; Mulholland, J D; Plotkin, H H; Silverberg, E C; Williams, J G

    1973-10-19

    The lunar ranging measurements now being made at the McDonald Observatory have an accuracy of 1 nsec in round-trip travel time. This corresponds to 15 cm in the one-way distance. The use of lasers with pulse-lengths of less than 1 nsec is expected to give an accuracy of 2 to 3 cm in the next few years. A new station is under construction in Hawaii, and additional stations in other countries are either in operation or under development. It is hoped that these stations will form the basis for a worldwide network to determine polar motion and earth rotation on a regular basis, and will assist in providing information about movement of the tectonic plates making up the earth's surface. Several mobile lunar ranging stations with telescopes having diameters of 1.0 m or less could, in the future, greatly extend the information obtainable about motions within and between the tectonic plates. The data obtained so far by the McDonald Observatory have been used to generate a new lunar ephemeris based on direct numerical integration of the equations of motion for the moon and planets. With this ephemeris, the range to the three Apollo retro-reflectors can be fit to an accuracy of 5 m by adjusting the differences in moments of inertia of the moon about its principal axes, the selenocentric coordinates of the reflectors, and the McDonald longitude. The accuracy of fitting the results is limited currently by errors of the order of an arc second in the angular orientation of the moon, as derived from the best available theory of how the moon rotates in response to the torques acting on it. Both a new calculation of the moon's orientation as a function of time based on direct numerical integration of the torque equations and a new analytic theory of the moon's orientation are expected to be available soon, and to improve considerably the accuracy of fitting the data. The accuracy already achieved routinely in lunar laser ranging represents a hundredfold improvement over any

  9. Optimizing information flow in small genetic networks. IV. Spatial coupling

    NASA Astrophysics Data System (ADS)

    Sokolowski, Thomas R.; Tkačik, Gašper

    2015-06-01

    We typically think of cells as responding to external signals independently by regulating their gene expression levels, yet they often locally exchange information and coordinate. Can such spatial coupling be of benefit for conveying signals subject to gene regulatory noise? Here we extend our information-theoretic framework for gene regulation to spatially extended systems. As an example, we consider a lattice of nuclei responding to a concentration field of a transcriptional regulator (the input) by expressing a single diffusible target gene. When input concentrations are low, diffusive coupling markedly improves information transmission; optimal gene activation functions also systematically change. A qualitatively different regulatory strategy emerges where individual cells respond to the input in a nearly steplike fashion that is subsequently averaged out by strong diffusion. While motivated by early patterning events in the Drosophila embryo, our framework is generically applicable to spatially coupled stochastic gene expression models.

  10. Optimizing information flow in small genetic networks. IV. Spatial coupling.

    PubMed

    Sokolowski, Thomas R; Tkačik, Gašper

    2015-06-01

    We typically think of cells as responding to external signals independently by regulating their gene expression levels, yet they often locally exchange information and coordinate. Can such spatial coupling be of benefit for conveying signals subject to gene regulatory noise? Here we extend our information-theoretic framework for gene regulation to spatially extended systems. As an example, we consider a lattice of nuclei responding to a concentration field of a transcriptional regulator (the input) by expressing a single diffusible target gene. When input concentrations are low, diffusive coupling markedly improves information transmission; optimal gene activation functions also systematically change. A qualitatively different regulatory strategy emerges where individual cells respond to the input in a nearly steplike fashion that is subsequently averaged out by strong diffusion. While motivated by early patterning events in the Drosophila embryo, our framework is generically applicable to spatially coupled stochastic gene expression models.

  11. Spatio-temporal dynamics in the origin of genetic information

    NASA Astrophysics Data System (ADS)

    Kim, Pan-Jun; Jeong, Hawoong

    2005-04-01

    We study evolutionary processes induced by spatio-temporal dynamics in prebiotic evolution. Using numerical simulations, we demonstrate that hypercycles emerge from complex interaction structures in multispecies systems. In this work, we also find that ‘hypercycle hybrid’ protects the hypercycle from its environment during the growth process. There is little selective advantage for one hypercycle to maintain coexistence with others. This brings the possibility of the outcompetition between hypercycles resulting in the negative effect on information diversity. To enrich the information in hypercycles, symbiosis with parasites is suggested. It is shown that symbiosis with parasites can play an important role in the prebiotic immunology.

  12. Assessing Website Quality in Context: Retrieving Information about Genetically Modified Food on the Web

    ERIC Educational Resources Information Center

    McInerney, Claire R.; Bird, Nora J.

    2005-01-01

    Introduction: Knowing the credibility of information about genetically modified food on the Internet is critical to the everyday life information seeking of consumers as they form opinions about this nascent agricultural technology. The Website Quality Evaluation Tool (WQET) is a valuable instrument that can be used to determine the credibility of…

  13. Journal Self-Citedness in "Journal Citation Reports" Library and Information Science and Genetics Journal Rankings.

    ERIC Educational Resources Information Center

    Nisonger, Thomas E.

    1998-01-01

    Investigates the effect of journal self-citedness on "Journal Citation Reports" (JCR) rankings of library and information science and genetics journals using data from 1994 on CD-ROM. Results for library and information science indicate that the effect of self-citedness on both JCR impact factor and total citation rankings was minimal.…

  14. Information Recall in Genetic Counselling: A Pilot Study of Its Assessment.

    ERIC Educational Resources Information Center

    Michie, Susan; French, David; Allanson, Abi; Bobrow, Martin; Marteau, Theresa M.

    1997-01-01

    Validity of using genetic counselors' reports of information given in consultations as a measure of patient recall was studied. Counselors' reports were compared with tape recordings and patient follow-up calls. Measures include patient expectations, patient anxiety, demographics, patient recall, patient-defined important information, and…

  15. Genetic testing likelihood: the impact of abortion views and quality of life information on women's decisions.

    PubMed

    Wilson, Jessica L; Ferguson, Gail M; Thorn, Judith M

    2011-04-01

    Little is known about factors predicting the likelihood of choosing genetic testing in college aged women versus older women, including knowledge of quality of life (QOL) associated with a disorder. Using vignettes with female college students (Experiment 1: n=257, mean age=19.70 yrs) and female faculty/staff/alumni (Experiment 2: n (nulliparous)=83, mean age=30.20 yrs; n (mothers)=53, mean age=33.77 yrs), we examined the contribution of multiple factors to predicting genetic testing likelihood for cystic fibrosis. We investigated malleable situational factors (style of genetic risk presentation and providing QOL information including physical and social aspects) and stable dispositional factors (abortion views). Parity (i.e., prior births) was more influential in women's genetic testing likelihood than was age. Greater acceptability of abortion for oneself and self-assessed knowledge following QOL information were predictors of higher testing likelihood for college students. Greater acceptability of abortion for another person was a predictor for nulliparous women. Abortion views moderated the effect of predictors for nulliparous women and mothers. Findings encourage genetic counselors to utilize QOL information to promote informed decision making through genetic testing.

  16. Informational structure of genetic sequences and nature of gene splicing

    NASA Astrophysics Data System (ADS)

    Trifonov, E. N.

    1991-10-01

    Only about 1/20 of DNA of higher organisms codes for proteins, by means of classical triplet code. The rest of DNA sequences is largely silent, with unclear functions, if any. The triplet code is not the only code (message) carried by the sequences. There are three levels of molecular communication, where the same sequence ``talks'' to various bimolecules, while having, respectively, three different appearances: DNA, RNA and protein. Since the molecular structures and, hence, sequence specific preferences of these are substantially different, the original DNA sequence has to carry simultaneously three types of sequence patterns (codes, messages), thus, being a composite structure in which one had the same letter (nucleotide) is frequently involved in several overlapping codes of different nature. This multiplicity and overlapping of the codes is a unique feature of the Gnomic, language of genetic sequences. The coexisting codes have to be degenerate in various degrees to allow an optimal and concerted performance of all the encoded functions. There is an obvious conflict between the best possible performance of a given function and necessity to compromise the quality of a given sequence pattern in favor of other patterns. It appears that the major role of various changes in the sequences on their ``ontogenetic'' way from DNA to RNA to protein, like RNA editing and splicing, or protein post-translational modifications is to resolve such conflicts. New data are presented strongly indicating that the gene splicing is such a device to resolve the conflict between the code of DNA folding in chromatin and the triplet code for protein synthesis.

  17. Does mRNA structure contain genetic information for regulating co-translational protein folding?

    PubMed Central

    Yang, Jian-Rong

    2017-01-01

    Currently many facets of genetic information are illdefined. In particular, how protein folding is genetically regulated has been a long-standing issue for genetics and protein biology. And a generic mechanistic model with supports of genomic data is still lacking. Recent technological advances have enabled much needed genome-wide experiments. While putting the effect of codon optimality on debate, these studies have supplied mounting evidence suggesting a role of mRNA structure in the regulation of protein folding by modulating translational elongation rate. In conjunctions with previous theories, this mechanistic model of protein folding guided by mRNA structure shall expand our understandings of genetic information and offer new insights into various biomedical puzzles. PMID:28271668

  18. Communicating genetic information in the family: enriching the debate through the notion of integrity.

    PubMed

    Boddington, Paula; Gregory, Maggie

    2008-12-01

    Genetic information about one individual often has medical and reproductive implications for that individual's relatives. There is a debate about whether policy on transmitting genetic information within the family should change to reflect this shared aspect of genetic information. Even if laws on medical confidentiality remain unchanged, there still remains the question of professional practice and whether, to what extent and by what means professionals should encourage disclosure within a family. The debate so far has tended to focus on who has a right to genetic information, or has a right to decline genetic information, frequently drawing on the notion of individual autonomy. There are significant divergences within this debate, and difficulties with the use of autonomy in this context have been noted. This paper draws on theoretical considerations as well as on qualitative empirical data to show that shifting from talk of autonomy to talk of integrity will greatly enrich and illuminate the issues. It becomes possible to gain deeper insights into the ethical significance of the timing and the manner of such communication, the character of recipients of knowledge, and the nuanced nature of communication and different levels of understanding within a family.

  19. How Parents Search, Interpret, and Evaluate Genetic Information Obtained from the Internet

    PubMed Central

    Roche, Myra I.; Skinner, Debra

    2011-01-01

    This study describes how parents of a child referred for genetic services searched the Internet for information, summarizes how they interpreted and evaluated the information they obtained, and identifies barriers that they encountered. Audio-taped interviews were conducted with 100 ethnically diverse families referred to a pediatric genetics clinic. After transcription, coded text was entered into a software program (QSR N6) for searching and data retrieval. Matrices were created to systematically categorize and compare families’ Internet use. Eighty-three percent of families obtained Internet information about the diagnosis, the clinic visit, and/or treatment and services. Those not conducting searches lacked access, Internet experience, or a diagnostic term and had lower incomes and less education, regardless of ethnicity. Families sought information in preparation for the clinic visit but barriers to obtaining and interpreting relevant information were common. Parents’ Internet searching experiences illustrate common barriers to obtaining and understanding genetic information. Identifying them can help genetic counselors facilitate parents’ searches for relevant information. PMID:18937062

  20. Consumer reaction to information on the labels of genetically modified food

    PubMed Central

    Sebastian-Ponce, Miren Itxaso; Sanz-Valero, Javier; Wanden-Berghe, Carmina

    2014-01-01

    OBJECTIVE To analyze consumer opinion on genetically modified foods and the information included on the label. METHODS A systematic review of the scientific literature on genetically modified food labeling was conducted consulting bibliographic databases (Medline – via PubMed –, EMBASE, ISI-Web of knowledge, Cochrane Library Plus, FSTA, LILACS, CINAHL and AGRICOLA) using the descriptors “organisms, genetically modified” and “food labeling”. The search covered the first available date, up to June 2012, selecting relevant articles written in English, Portuguese or Spanish. RESULTS Forty articles were selected after applying the inclusion and exclusion criteria. All of them should have conducted a population-based intervention focused on consumer awareness of genetically modified foods and their need or not, to include this on the label. The consumers expressed a preference for non-genetically modified products, and added that they were prepared to pay more for this but, ultimately, the product bought was that with the best price, in a market which welcomes new technologies. In 18 of the articles, the population was in favor of obligatory labelling, and in six, in favor of this being voluntary; seven studies showed the consumer knew little about genetically modified food, and in three, the population underestimated the quantity they consumed. Price was an influencing factor in all cases. CONCLUSIONS Label should be homogeneous and clarify the degree of tolerance of genetically modified products in humans, in comparison with those non-genetically modified. Label should also present the content or not of genetically modified products and how these commodities are produced and should be accompanied by the certifying entity and contact information. Consumers express their preference for non-genetically modifiedproducts and they even notice that they are willing to pay more for it, but eventually they buy the item with the best price, in a market that welcomes

  1. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting.

    PubMed

    Schulte, P A; Whittaker, C; Curran, C P

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments.

  2. Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy.

    PubMed

    Lee, Yi; El Andaloussi, Samir; Wood, Matthew J A

    2012-10-15

    Exosomes and microvesicles are extracellular nanovesicles released by most but not all cells. They are specifically equipped to mediate intercellular communication via the transfer of genetic information, including the transfer of both coding and non-coding RNAs, to recipient cells. As a result, both exosomes and microvesicles play a fundamental biological role in the regulation of normal physiological as well as aberrant pathological processes, via altered gene regulatory networks and/or via epigenetic programming. For example, microvesicle-mediated genetic transfer can regulate the maintenance of stem cell plasticity and induce beneficial cell phenotype modulation. Alternatively, such vesicles play a role in tumor pathogenesis and the spread of neurodegenerative diseases via the transfer of specific microRNAs and pathogenic proteins. Given this natural property for genetic information transfer, the possibility of exploiting these vesicles for therapeutic purposes is now being investigated. Stem cell-derived microvesicles appear to be naturally equipped to mediate tissue regeneration under certain conditions, while recent evidence suggests that exosomes might be harnessed for the targeted delivery of human genetic therapies via the introduction of exogenous genetic cargoes such as siRNA. Thus, extracellular vesicles are emerging as potent genetic information transfer agents underpinning a range of biological processes and with therapeutic potential.

  3. Insurance companies' access to genetic information: why regulation alone is not enough.

    PubMed

    Juth, Niklas

    2003-01-01

    The background of this paper is the ongoing dismantling of the social insurance systems in favour of commercialisation and privatisation of insurances needed for illness, old age and premature death. This combined with the increased possibility of using genetic testing for differentiating personal insurance premiums has the potentiality of creating a 'genetic proletariat'--an uninsurable high-risk population. The common way of handling this problem in Sweden, and many other developed countries around the North Atlantic, has been to regulate insurance companies' right to ask for and use genetic information in various ways. There is a distinction between partial regulation (that allows insurance companies access to genetic information from genetic tests already made, sometimes only above a specified amount, but not to demand new tests) and total regulation (that forbids insurance companies to ask for or use any genetic information). I will argue that these forms of regulation probably will have adverse consequences given the dismantling of collective social insurance systems. If this is convincing, a better way to solve the problem of an uninsurable high-risk population (and other problems) is to resurrect the collective, obligatory insurance systems in which the individual risk profile does not constitute a basis for premium determination. Both arguments cast in terms of consequences and justice render support for this conclusion.

  4. Mining Plant Genomic and Genetic Data Using the GnpIS Information System.

    PubMed

    Adam-Blondon, A-F; Alaux, M; Durand, S; Letellier, T; Merceron, G; Mohellibi, N; Pommier, C; Steinbach, D; Alfama, F; Amselem, J; Charruaud, D; Choisne, N; Flores, R; Guerche, C; Jamilloux, V; Kimmel, E; Lapalu, N; Loaec, M; Michotey, C; Quesneville, H

    2017-01-01

    GnpIS is an information system designed to help scientists working on plants and fungi to decipher the molecular and genetic architecture of trait variations by facilitating the navigation through genetic, genomic, and phenotypic information. The purpose of the present chapter is to illustrate how users can (1) explore datasets from phenotyping experiments in order to build new datasets for studying genotype × environment interactions in traits, (2) browse into the results of other genetic analysis data such as GWAS to generate or check working hypothesis about candidate genes or to identify important alleles and germplasms for breeding programs, and (3) explore the polymorphism in specific area of the genome using InterMine, JBrowse tools embedded in the GnpIS information system.

  5. Genetic testing information standardization in HL7 CDA and ISO13606.

    PubMed

    Bosca, Diego; Marco, Luis; Burriel, Veronica; Jaijo, Teresa; Millán, Jose M; Levin, Ana; Pastor, Oscar; Robles, Montserrat; Maldonado, Jose Alberto

    2013-01-01

    Communicating genetic testing reports of a patient in a semantically interoperable way remains difficult. Most of the information is stored as non-communicable documents which cannot automatically be processed. The objective of the project was to obtain semantically interoperable genetic testing reports which could be used not only for communication purposes but also for secondary uses, for example clinical trials or clinical decision support. This work describes the first part of the project, the modeling of genetic information reports using EHR standards. We used the Implementation Guide for CDA R2 Genetic Testing Report (GTR) as a basis for modeling the archetypes for both HL7 CDA and CEN/ISO 13606. This approach was validated with the information included in Usher Syndrome reports available at ISS-La Fe. The result of this work were three archetypes following ISO13606 and three archetypes following HL7 CDA model which contained all the information available in both Usher syndrome genetic testing reports and the implementation guide significant parts.

  6. GeneTests: an online genetic information resource for health care providers*

    PubMed Central

    Pagon, Roberta A.

    2006-01-01

    Objective: This paper describes the GeneTests genetic testing information resource with a focus on the GeneReviews component. Methods and Findings: The need for authoritative genetic testing information and issues in the development and maintenance of GeneReviews are discussed: Hampered by lack of currency and content deficits, traditional medical information resources such as textbooks and the published literature are generally inadequate sources of genetic testing information. Problems encountered in developing GeneReviews include the evolution of new authorship models and academic and genetics professionals' skepticism about the quality of Web-based publications. Conclusions: GeneTests is an authoritative, highly used, and well-regarded resource in the international medical community that is intended for health care providers. Future development issues to address include ways to (1) manage the increasing editing and updating load as content grows and (2) address technical and content issues that need to be considered in displaying GeneReviews as a “just in time” resource in the electronic medical record to achieve the project goal of integrating appropriate use of genetic testing into patient care. PMID:16888670

  7. Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive.

    PubMed

    Otlowski, Margaret F A

    2015-04-06

    There is growing understanding of the need for genetic information to be shared with genetic relatives in some circumstances. Since 2006, s 95AA of the Privacy Act 1988 (Cwlth) has permitted the disclosure of genetic information to genetic relatives without the patient's consent, provided that the health practitioner reasonably believes that disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of the genetic relatives. Enabling guidelines were introduced in 2009. These were limited to the private sector, and excluded doctors working in the public sector at both Commonwealth and state and territory levels. Privacy legislation was amended in March 2014, and new Australian Privacy Principles, which replace the National Privacy Principles and Information Privacy Principles, now cover the collection and use of personal information. The Privacy Act and the Australian Privacy Principles now extend to practitioners employed by the Commonwealth but not to health practitioners working in state and territory public hospitals. In this article, I review these legislative developments and highlight the implications of the lack of uniformity and the consequent need for a collaborative, uniform approach by states and territories.

  8. An empirical comparison of information-theoretic selection criteria for multivariate behavior genetic models.

    PubMed

    Markon, Kristian E; Krueger, Robert F

    2004-11-01

    Information theory provides an attractive basis for statistical inference and model selection. However, little is known about the relative performance of different information-theoretic criteria in covariance structure modeling, especially in behavioral genetic contexts. To explore these issues, information-theoretic fit criteria were compared with regard to their ability to discriminate between multivariate behavioral genetic models under various model, distribution, and sample size conditions. Results indicate that performance depends on sample size, model complexity, and distributional specification. The Bayesian Information Criterion (BIC) is more robust to distributional misspecification than Akaike's Information Criterion (AIC) under certain conditions, and outperforms AIC in larger samples and when comparing more complex models. An approximation to the Minimum Description Length (MDL; Rissanen, J. (1996). IEEE Transactions on Information Theory 42:40-47, Rissanen, J. (2001). IEEE Transactions on Information Theory 47:1712-1717) criterion, involving the empirical Fisher information matrix, exhibits variable patterns of performance due to the complexity of estimating Fisher information matrices. Results indicate that a relatively new information-theoretic criterion, Draper's Information Criterion (DIC; Draper, 1995), which shares features of the Bayesian and MDL criteria, performs similarly to or better than BIC. Results emphasize the importance of further research into theory and computation of information-theoretic criteria.

  9. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

    PubMed Central

    Salama, Joseph S; Aronson, Samuel J; Chung, Wendy K; Gray, Stacy W; Hindorff, Lucia A; Jarvik, Gail P; Plon, Sharon E; Stoffel, Elena M; Tarczy-Hornoch, Peter Z; Van Allen, Eliezer M; Weck, Karen E; Chute, Christopher G; Freimuth, Robert R; Grundmeier, Robert W; Hartzler, Andrea L; Li, Rongling; Peissig, Peggy L; Peterson, Josh F; Rasmussen, Luke V; Starren, Justin B; Williams, Marc S; Overby, Casey L

    2015-01-01

    Objective Clinicians’ ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended. PMID:26142422

  10. Effects of information on young consumers' willingness to pay for genetically modified food: experimental auction analysis.

    PubMed

    Kajale, Dilip B; Becker, T C

    2014-01-01

    This study examines the effects of information on consumers' willingness to pay (WTP) for genetically modified food (GMF). We used Vickrey second price experimental auction method for elicitation of consumer WTP for GM potato chips and GM soya-chocolate bar. The sample used in this study was university students from Delhi, India. Four information formats (positive, negative, no information, and combined information about GM technology) were used for the examination. The results show that, when students received the combine information they were willing to pay around 17%-20% premium for GMF and when received the negative information they demanded around 22% discount for GMF. While the positive- and the no-information formats alone have no considerable effect on consumers' WTP for GMF. Overall, our findings suggest that while doing marketing of GMF in India, the best strategy is to provide combined information about GM technology.

  11. Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.

    PubMed

    Goldim, José Roberto; Gibbon, Sahra

    2015-07-01

    Drawing from perspectives of both bioethics and anthropology, this article explores how the boundaries between personal and relational privacy are negotiated by patients and practitioners in the context of an emerging domain of cancer genetics in Brazil. It reflects on the place of informed consent in the history of bioethics in North America in contrast to the development of bioethics in Brazil and the particular social cultural context in which consent is sought in Brazilian public health care. Making use of empirical research with families and individuals receiving genetic counselling related to increased genetic risk for cancer, in genetic clinics in southern Brazil, it examines how informed consent is linked to the necessary movement between personal and relational privacy. The paper illustrates the value of a particular tool known as a 'sociogram' to examine the complex interpersonal dynamics that arise in negotiating informed consent at the interface between the family and the individual in Brazil. The paper, therefore, points to the scope of further interdisciplinary exchanges between anthropology and bioethics, confronting the new challenges that arise in the context of medical genetics in developing country.

  12. Argon Cluster Sputtering Source for ToF-SIMS Depth Profiling of Insulating Materials: High Sputter Rate and Accurate Interfacial Information.

    PubMed

    Wang, Zhaoying; Liu, Bingwen; Zhao, Evan W; Jin, Ke; Du, Yingge; Neeway, James J; Ryan, Joseph V; Hu, Dehong; Zhang, Kelvin H L; Hong, Mina; Le Guernic, Solenne; Thevuthasan, Suntharampilai; Wang, Fuyi; Zhu, Zihua

    2015-08-01

    The use of an argon cluster ion sputtering source has been demonstrated to perform superiorly relative to traditional oxygen and cesium ion sputtering sources for ToF-SIMS depth profiling of insulating materials. The superior performance has been attributed to effective alleviation of surface charging. A simulated nuclear waste glass (SON68) and layered hole-perovskite oxide thin films were selected as model systems because of their fundamental and practical significance. Our results show that high sputter rates and accurate interfacial information can be achieved simultaneously for argon cluster sputtering, whereas this is not the case for cesium and oxygen sputtering. Therefore, the implementation of an argon cluster sputtering source can significantly improve the analysis efficiency of insulating materials and, thus, can expand its applications to the study of glass corrosion, perovskite oxide thin film characterization, and many other systems of interest.

  13. Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.

    PubMed

    Serra, Eduard; Pros, Eva; García, Carles; López, Eva; Gili, M Lluïsa; Gómez, Carolina; Ravella, Anna; Capellá, Gabriel; Blanco, Ignacio; Lázaro, Conxi

    2007-09-01

    The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a significant number of patients for which, while fulfilling NF1 clinical criteria, no constitutive mutation is found at a desired time. This is particularly critical for prenatal genetic testing of sporadic cases. Here we describe the use of loss of heterozygosity information in neurofibromas to obtain linkage information on the affected NF1 haplotype, which may be applied for prenatal testing in sporadic patients. However, proper genetic counseling should be provided regarding the possibility of somatic mosaicism.

  14. SnowyOwl: accurate prediction of fungal genes by using RNA-Seq and homology information to select among ab initio models

    PubMed Central

    2014-01-01

    Background Locating the protein-coding genes in novel genomes is essential to understanding and exploiting the genomic information but it is still difficult to accurately predict all the genes. The recent availability of detailed information about transcript structure from high-throughput sequencing of messenger RNA (RNA-Seq) delineates many expressed genes and promises increased accuracy in gene prediction. Computational gene predictors have been intensively developed for and tested in well-studied animal genomes. Hundreds of fungal genomes are now or will soon be sequenced. The differences of fungal genomes from animal genomes and the phylogenetic sparsity of well-studied fungi call for gene-prediction tools tailored to them. Results SnowyOwl is a new gene prediction pipeline that uses RNA-Seq data to train and provide hints for the generation of Hidden Markov Model (HMM)-based gene predictions and to evaluate the resulting models. The pipeline has been developed and streamlined by comparing its predictions to manually curated gene models in three fungal genomes and validated against the high-quality gene annotation of Neurospora crassa; SnowyOwl predicted N. crassa genes with 83% sensitivity and 65% specificity. SnowyOwl gains sensitivity by repeatedly running the HMM gene predictor Augustus with varied input parameters and selectivity by choosing the models with best homology to known proteins and best agreement with the RNA-Seq data. Conclusions SnowyOwl efficiently uses RNA-Seq data to produce accurate gene models in both well-studied and novel fungal genomes. The source code for the SnowyOwl pipeline (in Python) and a web interface (in PHP) is freely available from http://sourceforge.net/projects/snowyowl/. PMID:24980894

  15. Machine Learning for Information Retrieval: Neural Networks, Symbolic Learning, and Genetic Algorithms.

    ERIC Educational Resources Information Center

    Chen, Hsinchun

    1995-01-01

    Presents an overview of artificial-intelligence-based inductive learning techniques and their use in information science research. Three methods are discussed: the connectionist Hopfield network; the symbolic ID3/ID5R; evolution-based genetic algorithms. The knowledge representations and algorithms of these methods are examined in the context of…

  16. 78 FR 70617 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-26

    ... Doc No: 2013-28314] SOCIAL SECURITY ADMINISTRATION [Docket No. SSA-2013-0054] Open Government: Use of.... ACTION: Notice of open government forum. SUMMARY: We will host an online open government comment forum about the use of genetic information in the disability determination process. The forum is open to...

  17. Guidelines for disclosing genetic information to family members: from development to use.

    PubMed

    Godard, Béatrice; Hurlimann, Thierry; Letendre, Martin; Egalité, Nathalie

    2006-01-01

    This paper presents the existing legal frameworks, professional guidelines and other documents related to the conditions and extent of the disclosure of genetic information by physicians to at-risk family members. Although the duty of a physician regarding disclosure of genetic information to a patient's relatives has only been addressed by few legal cases, courts have found such a duty under some circumstances. Generally, disclosure should not be permitted without the patient's consent. Yet, due to the nature of genetic information, exceptions are foreseen, where treatment and prevention are available. This duty to warn a patient's relative is also supported by some professional and policy organizations that have addressed the issue. Practice guidelines with a communication and intervention plan are emerging, providing physicians with tools that allow them to assist patients in their communication with relatives without jeopardizing their professional liability. Since guidelines aim to improve the appropriateness of medical practice and consequently to better serve the interests of patients, it is important to determine to what degree they document the 'best practice' standards. Such an analysis is an essential step to evaluate the different approaches permitting the disclosure of genetic information to family members.

  18. Using the GRIN-Global System to Identify Useful Plant Genetic Resources & Information

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The GRIN-Global (GG) System has been developed to provide the world's crop genebanks and plant genetic resource (PGR) users with a powerful, flexible, easy-to-use PGR information management system. Developed jointly by the USDA Agricultural Research Service, Bioversity International and the Global C...

  19. Reasoning over genetic variance information in cause-and-effect models of neurodegenerative diseases.

    PubMed

    Naz, Mufassra; Kodamullil, Alpha Tom; Hofmann-Apitius, Martin

    2016-05-01

    The work we present here is based on the recent extension of the syntax of the Biological Expression Language (BEL), which now allows for the representation of genetic variation information in cause-and-effect models. In our article, we describe, how genetic variation information can be used to identify candidate disease mechanisms in diseases with complex aetiology such as Alzheimer's disease and Parkinson's disease. In those diseases, we have to assume that many genetic variants contribute moderately to the overall dysregulation that in the case of neurodegenerative diseases has such a long incubation time until the first clinical symptoms are detectable. Owing to the multilevel nature of dysregulation events, systems biomedicine modelling approaches need to combine mechanistic information from various levels, including gene expression, microRNA (miRNA) expression, protein-protein interaction, genetic variation and pathway. OpenBEL, the open source version of BEL, has recently been extended to match this requirement, and we demonstrate in our article, how candidate mechanisms for early dysregulation events in Alzheimer's disease can be identified based on an integrative mining approach that identifies 'chains of causation' that include single nucleotide polymorphism information in BEL models.

  20. 29 CFR 2590.702-1 - Additional requirements prohibiting discrimination based on genetic information.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... diabetes. A begins to experience excessive sweating, thirst, and fatigue. A's physician examines A and... adult onset diabetes mellitus (Type 2 diabetes). (ii) Conclusion. In this Example 1, A has been... involved. The diagnosis is not based principally on genetic information. Thus, Type 2 diabetes...

  1. 45 CFR 146.122 - Additional requirements prohibiting discrimination based on genetic information.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... diabetes. A begins to experience excessive sweating, thirst, and fatigue. A's physician examines A and... adult onset diabetes mellitus (Type 2 diabetes). (ii) Conclusion. In this Example 1, A has been... involved. The diagnosis is not based principally on genetic information. Thus, Type 2 diabetes...

  2. Genetic counseling practice in next generation sequencing research: implications for the ethical oversight of the informed consent process.

    PubMed

    Egalite, Nathalie; Groisman, Iris Jaitovich; Godard, Beatrice

    2014-08-01

    The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.

  3. 75 FR 33317 - Request for Information (RFI) on the National Institutes of Health Plan To Develop the Genetic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-06-11

    ... Health Plan To Develop the Genetic Testing Registry ACTION: Notice. SUMMARY: The National Institutes of... on its plan to develop the Genetic Testing Registry (GTR); a centralized public resource that will provide information about the availability, scientific basis, and usefulness of genetic tests....

  4. Infant development in family context: call for a genetically informed approach

    PubMed Central

    Parade, Stephanie H.; McGeary, John; Seifer, Ronald; Knopik, Valerie

    2012-01-01

    We call for a genetically informed approach in the examination of infant social and emotional development in family context. We recommend that scholars conceptualize family functioning as occurring on three unique levels: the parent-child dyad, the inter-parental dyad, and whole family functioning. Although advances in the area of understanding genetic variation in infants as a potential moderator of the influence of parent-child dyadic functioning have been made over the past decade, it is time to widen this inquiry to consider genetic variation in infants as a potential moderator of the influence of inter-parental dyadic and whole family functioning as well. A critical review of the literature also calls for additional examination of genetic variation in infants as a moderator of positive contextual influences, the integration of unique temperament variables with studies of infant genotype, consideration of the role of the gene-environment correlation, and epigenetic effects. Furthermore, we call for the application of genetically-informed research methods to these questions. Expanding knowledge in this area has the potential to refine treatment and prevention efforts aimed at promoting infant social and emotional development. PMID:22969793

  5. Constituent properties of licorices derived from Glycyrrhiza uralensis, G. glabra, or G. inflata identified by genetic information.

    PubMed

    Kondo, Kenji; Shiba, Mao; Nakamura, Rie; Morota, Takashi; Shoyama, Yukihiro

    2007-07-01

    Constituent properties of licorices derived from Glycyrrhiza uralensis, G. glabra, and G. inflata are revealed by comparing 117 of licorice identified using four genetic markers; internal tracscribed spacer (ITS) on nuclear ribosomal DNA, rbcL gene, matK gene, and trnH-trnK1 intergenic region on chloroplast DNA. Regarding six main constituents of licorice; glycyrrhizin, liquiritin, liquiritin apioside, isoliquiritin, isoliquiritin apioside, and liquiritigenin, the constituent property of G. glabra resembles to that of G. inflata. On the other hand, the constituent property of G. uralensis is not similar to that of G. glabra or G. inflata and is characterized by a wide content variation of the six constituents compared to those of G. glabra and/or G. inflata. The mean contents of liquiritin, isoliquiritin, or liquilitigenin in G. uralensis are significantly higher than those of G. glabra or G. inflata. Therefore, the licorice species should be selected depending on these constituent properties for the traditional Chinese medicines or the Japanese Kampo medicines. Additionally, glycycoumarin, glabridin, and licochalcone A were reconfirmed as the species-specific typical constituents of G. uralensis, G. glabra, and G. inflata respectively. Therefore, it is resulted that the determination of the three species-specific constituents may be useful for the species identification of licorice. However, since 6% of licorice examined and hybrids were exceptions to the rule, their genetic information is necessary for the accurate species identification of licorice.

  6. Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

    PubMed Central

    2011-01-01

    Background Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. Discussion As health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. Summary This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications. PMID:22047175

  7. Neuroscientific and behavioral genetic information in criminal cases in the Netherlands.

    PubMed

    de Kogel, C H; Westgeest, E J M C

    2015-11-01

    In this contribution an empirical approach is used to gain more insight into the relationship between neuroscience and criminal law. The focus is on case law in the Netherlands. Neuroscientific information and techniques have found their way into the courts of the Netherlands. Furthermore, following an Italian case in which a mentally ill offender received a penalty reduction in part because of a 'genetic vulnerability for impulsive aggression', the expectation was expressed that such 'genetic defenses' would appear in the Netherlands too. To assess how neuroscientific and behavioral genetic information are used in criminal justice practice in the Netherlands, we systematically collect Dutch criminal cases in which neuroscientific or behavioral genetic information is introduced. Data and case law examples are presented and discussed. Although cases are diverse, several themes appear, such as prefrontal brain damage in relation to criminal responsibility and recidivism risk, and divergent views of the implications of neurobiological knowledge about addiction for judging criminal responsibility. Whereas in the international 'neurolaw literature' the emphasis is often on imaging techniques, the Dutch findings also illustrate the role of neuropsychological methods in criminal cases. Finally, there appears to be a clear need of practice oriented instruments and guidelines.

  8. Neuroscientific and behavioral genetic information in criminal cases in the Netherlands

    PubMed Central

    de Kogel, C.H.; Westgeest, E.J.M.C.

    2015-01-01

    In this contribution an empirical approach is used to gain more insight into the relationship between neuroscience and criminal law. The focus is on case law in the Netherlands. Neuroscientific information and techniques have found their way into the courts of the Netherlands. Furthermore, following an Italian case in which a mentally ill offender received a penalty reduction in part because of a ‘genetic vulnerability for impulsive aggression’, the expectation was expressed that such ‘genetic defenses’ would appear in the Netherlands too. To assess how neuroscientific and behavioral genetic information are used in criminal justice practice in the Netherlands, we systematically collect Dutch criminal cases in which neuroscientific or behavioral genetic information is introduced. Data and case law examples are presented and discussed. Although cases are diverse, several themes appear, such as prefrontal brain damage in relation to criminal responsibility and recidivism risk, and divergent views of the implications of neurobiological knowledge about addiction for judging criminal responsibility. Whereas in the international ‘neurolaw literature’ the emphasis is often on imaging techniques, the Dutch findings also illustrate the role of neuropsychological methods in criminal cases. Finally, there appears to be a clear need of practice oriented instruments and guidelines. PMID:27774213

  9. The Australian joint inquiry into the Protection of Human Genetic Information.

    PubMed

    Weisbrot, David

    2003-04-01

    The Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee are currently engaged in an inquiry into the Protection of Human Genetic Information. In particular, the Attorney-General and the Minister for Health and Ageing have asked us to focus, in relation to human genetic information and tissue samples, on how best to ensure world's best practice in relation to: privacy protection; protection against unlawful discrimination; and the maintenance of high ethical standards in medical research and clinical practice. While initial concerns and controversies have related mainly to aspects of medical research (e.g. consent; re-use of samples) and access to private insurance coverage, relevant issues arise in a wide variety of contexts, including: employment; medical practice; tissue banks and genetic databases; health administration; superannuation; access to government services (e.g. schools, nursing homes); law enforcement; and use by government authorities (e.g. for immigration purposes) or other bodies (e.g. by sports associations). Under the Australian federal system, it is also the case that laws and practices may vary across states and territories. For example, neonatal genetic testing is standard, but storage and retention policies for the resulting 'Guthrie cards' differ markedly. Similarly, some states have developed highly linked health information systems (e.g. incorporating hospitals, doctors' offices and public records), while others discourage such linkages owing to concerns about privacy. The challenge for Australia is to develop policies, standards and practices that promote the intelligent use of genetic information, while providing a level of security with which the community feels comfortable. The inquiry is presently reviewing the adequacy of existing laws and regulatory mechanisms, but recognizes that it will be even more important to develop a broad mix of strategies, such as community and professional education, and the

  10. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information.

    PubMed

    Walsh, Susan; Liu, Fan; Ballantyne, Kaye N; van Oven, Mannis; Lao, Oscar; Kayser, Manfred

    2011-06-01

    A new era of 'DNA intelligence' is arriving in forensic biology, due to the impending ability to predict externally visible characteristics (EVCs) from biological material such as those found at crime scenes. EVC prediction from forensic samples, or from body parts, is expected to help concentrate police investigations towards finding unknown individuals, at times when conventional DNA profiling fails to provide informative leads. Here we present a robust and sensitive tool, termed IrisPlex, for the accurate prediction of blue and brown eye colour from DNA in future forensic applications. We used the six currently most eye colour-informative single nucleotide polymorphisms (SNPs) that previously revealed prevalence-adjusted prediction accuracies of over 90% for blue and brown eye colour in 6168 Dutch Europeans. The single multiplex assay, based on SNaPshot chemistry and capillary electrophoresis, both widely used in forensic laboratories, displays high levels of genotyping sensitivity with complete profiles generated from as little as 31pg of DNA, approximately six human diploid cell equivalents. We also present a prediction model to correctly classify an individual's eye colour, via probability estimation solely based on DNA data, and illustrate the accuracy of the developed prediction test on 40 individuals from various geographic origins. Moreover, we obtained insights into the worldwide allele distribution of these six SNPs using the HGDP-CEPH samples of 51 populations. Eye colour prediction analyses from HGDP-CEPH samples provide evidence that the test and model presented here perform reliably without prior ancestry information, although future worldwide genotype and phenotype data shall confirm this notion. As our IrisPlex eye colour prediction test is capable of immediate implementation in forensic casework, it represents one of the first steps forward in the creation of a fully individualised EVC prediction system for future use in forensic DNA intelligence.

  11. 75 FR 39699 - Request for Information (RFI) on the National Institutes of Health Plan to Develop the Genetic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-12

    ... Health Plan to Develop the Genetic Testing Registry; Notice On June 11, 2010, the National Institutes of... Information (RFI) on its plan to develop a voluntary Genetic Testing Registry (GTR), a centralized public resource that will provide information about the availability, scientific basis, and usefulness of...

  12. Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help.

    PubMed

    Collins, Heather; Calvo, Sherri; Greenberg, Kathleen; Forman Neall, Lisa; Morrison, Stephanie

    2016-04-27

    Precision medicine focuses on understanding individual variability in disease prevention, care, and treatment. The Precision Medicine Initiative, launched by President Obama in early 2015, aims to bring this approach to all areas of health care. However, few consumer-friendly resources exist for the public to learn about precision medicine and the conditions that could be affected by this approach to care. Genetics Home Reference, a website from the US National Library of Medicine, seeks to support precision medicine education by providing the public with summaries of genetic conditions and their associated genes, as well as information about issues related to precision medicine such as disease risk and pharmacogenomics. With the advance of precision medicine, consumer-focused resources like Genetics Home Reference can be foundational in providing context for public understanding of the increasing amount of data that will become available.

  13. Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help

    PubMed Central

    Calvo, Sherri; Greenberg, Kathleen; Forman Neall, Lisa; Morrison, Stephanie

    2016-01-01

    Precision medicine focuses on understanding individual variability in disease prevention, care, and treatment. The Precision Medicine Initiative, launched by President Obama in early 2015, aims to bring this approach to all areas of health care. However, few consumer-friendly resources exist for the public to learn about precision medicine and the conditions that could be affected by this approach to care. Genetics Home Reference, a website from the US National Library of Medicine, seeks to support precision medicine education by providing the public with summaries of genetic conditions and their associated genes, as well as information about issues related to precision medicine such as disease risk and pharmacogenomics. With the advance of precision medicine, consumer-focused resources like Genetics Home Reference can be foundational in providing context for public understanding of the increasing amount of data that will become available. PMID:27122232

  14. GnpIS: an information system to integrate genetic and genomic data from plants and fungi

    PubMed Central

    Steinbach, Delphine; Alaux, Michael; Amselem, Joelle; Choisne, Nathalie; Durand, Sophie; Flores, Raphaël; Keliet, Aminah-Olivia; Kimmel, Erik; Lapalu, Nicolas; Luyten, Isabelle; Michotey, Célia; Mohellibi, Nacer; Pommier, Cyril; Reboux, Sébastien; Valdenaire, Dorothée; Verdelet, Daphné; Quesneville, Hadi

    2013-01-01

    Data integration is a key challenge for modern bioinformatics. It aims to provide biologists with tools to explore relevant data produced by different studies. Large-scale international projects can generate lots of heterogeneous and unrelated data. The challenge is to integrate this information with other publicly available data. Nucleotide sequencing throughput has been improved with new technologies; this increases the need for powerful information systems able to store, manage and explore data. GnpIS is a multispecies integrative information system dedicated to plant and fungi pests. It bridges genetic and genomic data, allowing researchers access to both genetic information (e.g. genetic maps, quantitative trait loci, markers, single nucleotide polymorphisms, germplasms and genotypes) and genomic data (e.g. genomic sequences, physical maps, genome annotation and expression data) for species of agronomical interest. GnpIS is used by both large international projects and plant science departments at the French National Institute for Agricultural Research. Here, we illustrate its use. Database URL: http://urgi.versailles.inra.fr/gnpis PMID:23959375

  15. Genetic and environmental bases of childhood antisocial behavior: a multi-informant twin study.

    PubMed

    Baker, Laura A; Jacobson, Kristen C; Raine, Adrian; Lozano, Dora Isabel; Bezdjian, Serena

    2007-05-01

    Genetic and environmental influences on childhood antisocial and aggressive behavior (ASB) during childhood were examined in 9- to 10-year-old twins, using a multi-informant approach. The sample (605 families of twins or triplets) was socioeconomically and ethnically diverse, representative of the culturally diverse urban population in Southern California. Measures of ASB included symptom counts for conduct disorder, ratings of aggression, delinquency, and psychopathic traits obtained through child self-reports, teacher, and caregiver ratings. Multivariate analysis revealed a common ASB factor across informants that was strongly heritable (heritability was .96), highlighting the importance of a broad, general measure obtained from multiple sources as a plausible construct for future investigations of specific genetic mechanisms in ASB. The best fitting multivariate model required informant-specific genetic, environmental, and rater effects for variation in observed ASB measures. The results suggest that parents, children, and teachers have only a partly "shared view" and that the additional factors that influence the "rater-specific" view of the child's antisocial behavior vary for different informants. This is the first study to demonstrate strong heritable effects on ASB in ethnically and economically diverse samples.

  16. GnpIS: an information system to integrate genetic and genomic data from plants and fungi.

    PubMed

    Steinbach, Delphine; Alaux, Michael; Amselem, Joelle; Choisne, Nathalie; Durand, Sophie; Flores, Raphaël; Keliet, Aminah-Olivia; Kimmel, Erik; Lapalu, Nicolas; Luyten, Isabelle; Michotey, Célia; Mohellibi, Nacer; Pommier, Cyril; Reboux, Sébastien; Valdenaire, Dorothée; Verdelet, Daphné; Quesneville, Hadi

    2013-01-01

    Data integration is a key challenge for modern bioinformatics. It aims to provide biologists with tools to explore relevant data produced by different studies. Large-scale international projects can generate lots of heterogeneous and unrelated data. The challenge is to integrate this information with other publicly available data. Nucleotide sequencing throughput has been improved with new technologies; this increases the need for powerful information systems able to store, manage and explore data. GnpIS is a multispecies integrative information system dedicated to plant and fungi pests. It bridges genetic and genomic data, allowing researchers access to both genetic information (e.g. genetic maps, quantitative trait loci, markers, single nucleotide polymorphisms, germplasms and genotypes) and genomic data (e.g. genomic sequences, physical maps, genome annotation and expression data) for species of agronomical interest. GnpIS is used by both large international projects and plant science departments at the French National Institute for Agricultural Research. Here, we illustrate its use. Database URL: http://urgi.versailles.inra.fr/gnpis.

  17. The new genetics and informed consent: differentiating choice to preserve autonomy.

    PubMed

    Bunnik, Eline M; de Jong, Antina; Nijsingh, Niels; de Wert, Guido M W R

    2013-07-01

    The advent of new genetic and genomic technologies may cause friction with the principle of respect for autonomy and demands a rethinking of traditional interpretations of the concept of informed consent. Technologies such as whole-genome sequencing and micro-array based analysis enable genome-wide testing for many heterogeneous abnormalities and predispositions simultaneously. This may challenge the feasibility of providing adequate pre-test information and achieving autonomous decision-making. At a symposium held at the 11th World Congress of Bioethics in June 2012 (Rotterdam), organized by the International Association of Bioethics, these challenges were presented for three different areas in which these so-called 'new genetics' technologies are increasingly being applied: newborn screening, prenatal screening strategies and commercial personal genome testing. In this article, we build upon the existing ethical framework for a responsible set-up of testing and screening offers and reinterpret some of its criteria in the light of the new genetics. As we will argue, the scope of a responsible testing or screening offer should align with the purpose(s) of testing and with the principle of respect for autonomy for all stakeholders involved, including (future) children. Informed consent is a prerequisite but requires a new approach. We present preliminary and general directions for an individualized or differentiated set-up of the testing offer and for the informed consent process. With this article we wish to contribute to the formation of new ideas on how to tackle the issues of autonomy and informed consent for (public) healthcare and direct-to-consumer applications of the new genetics.

  18. The dark side of friends: a genetically informed study of victimization within early adolescents' friendships.

    PubMed

    Brendgen, Mara; Girard, Alain; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2015-01-01

    Using a genetically informed twin design, this study examined (a) whether, in line with gene-environment correlation (rGE), a genetic disposition for anxiety puts children at risk of being victimized by a close friend or by other peers, and (b) whether, in line with gene-environment interaction (GxE), victimization by a close friend or by other peers moderates the expression of a genetic disposition for anxiety. Participants were 268 monozygotic and dizygotic twin pairs (MZ males = 71, MZ females = 80, DZ males = 56, DZ females = 61; 87% of European descent) assessed via questionnaires in Grade 8 (M age = 14.06 years, SD = 3.60). Participants reported about their victimization by a close friend and by other peers and their anxiety level. Victimization by a close friend and victimization by other peers were uncorrelated. In line with rGE, genetic factors related to anxiety predicted victimization by other peers, whereas victimization by a close friend was not predicted by heritable characteristics. Moreover, in line with a suppression process of GxE, victimization by other peers reduced the role of genetic factors in explaining interindividual differences in anxiety. In contrast, in line with a diathesis-stress process of GxE, victimization by a close friend fostered the expression of a genetic disposition for anxiety. Victimization by a close friend seems to happen to adolescents regardless of their personal, heritable characteristics. If it does occur, however, it is a source of distress mostly for youth with a genetic vulnerability for anxiety.

  19. A Genetically Informed Study of Associations between Family Functioning and Child Psychosocial Adjustment

    PubMed Central

    Schermerhorn, Alice C.; D’Onofrio, Brian M.; Turkheimer, Eric; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

    2010-01-01

    Research has documented associations between family functioning and offspring psychosocial adjustment, but questions remain regarding whether these associations are partly due to confounding genetic factors and other environmental factors. The current study used a genetically informed approach, the Children of Twins design, to explore the associations between family functioning (family conflict, marital quality, and agreement about parenting) and offspring psychopathology. Participants were 867 twin pairs (388 MZ; 479 DZ) from the Twin and Offspring Study in Sweden (TOSS), their spouses, and children (51.7% female; M = 15.75 years). The results suggested associations between exposure to family conflict (assessed by the mother, father, and child) and child adjustment were independent of genetic factors and other environmental factors. However, when family conflict was assessed using only children’s reports, the results indicated that genetic factors also influenced these associations. In addition, the analyses indicated that exposure to low marital quality and agreement about parenting was associated with children’s internalizing and externalizing problems, and that genetic factors also contributed to the associations of marital quality and agreement about parenting with offspring externalizing problems. PMID:21142367

  20. Fatalistic responses to different types of genetic risk information: exploring the role of self-malleability.

    PubMed

    Claassen, Liesbeth; Henneman, Lidewij; De Vet, Riekie; Knol, Dirk; Marteau, Theresa; Timmermans, Danielle

    2010-02-01

    Providing people with genetic risk information may induce a sense of fatalism, the belief that little can be done to reduce the risk. We postulated that fatalism is a function of health risk information and individual differences in self-perception. DNA-based risk information was hypothesised to generate more fatalism than risk information based on family history or non-genetic risk information. Moreover, people who view themselves as more rather than less able to change self-attributes were hypothesised to respond least fatalistically. Factor analyses in separate samples were used to construct a five-item 'Malleability of self' measure. Predictive validity of the measure was tested using a within-subjects analogue design. Participants responded to three scenario vignettes in which they were informed of an increased risk of cardiovascular disease (CVD). In Scenario 1, risk was ascertained by DNA testing, family history and cholesterol testing; in Scenario 2, it was ascertained by family history and cholesterol testing; in Scenario 3, risk was ascertained by cholesterol testing alone. Scenario 1 was associated with least perceived control over cholesterol level and CVD risk. People who viewed themselves as more able to change self-attributes experienced more control in all three scenarios.

  1. Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

    PubMed

    Hamilton, Jada G; Hutson, Sadie P; Frohnmayer, Amy E; Han, Paul K J; Peters, June A; Carr, Ann G; Alter, Blanche P

    2015-10-01

    Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders' rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49-59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

  2. Genetic Code Evolution Reveals the Neutral Emergence of Mutational Robustness, and Information as an Evolutionary Constraint

    PubMed Central

    Massey, Steven E.

    2015-01-01

    The standard genetic code (SGC) is central to molecular biology and its origin and evolution is a fundamental problem in evolutionary biology, the elucidation of which promises to reveal much about the origins of life. In addition, we propose that study of its origin can also reveal some fundamental and generalizable insights into mechanisms of molecular evolution, utilizing concepts from complexity theory. The first is that beneficial traits may arise by non-adaptive processes, via a process of “neutral emergence”. The structure of the SGC is optimized for the property of error minimization, which reduces the deleterious impact of point mutations. Via simulation, it can be shown that genetic codes with error minimization superior to the SGC can emerge in a neutral fashion simply by a process of genetic code expansion via tRNA and aminoacyl-tRNA synthetase duplication, whereby similar amino acids are added to codons related to that of the parent amino acid. This process of neutral emergence has implications beyond that of the genetic code, as it suggests that not all beneficial traits have arisen by the direct action of natural selection; we term these “pseudaptations”, and discuss a range of potential examples. Secondly, consideration of genetic code deviations (codon reassignments) reveals that these are mostly associated with a reduction in proteome size. This code malleability implies the existence of a proteomic constraint on the genetic code, proportional to the size of the proteome (P), and that its reduction in size leads to an “unfreezing” of the codon – amino acid mapping that defines the genetic code, consistent with Crick’s Frozen Accident theory. The concept of a proteomic constraint may be extended to propose a general informational constraint on genetic fidelity, which may be used to explain variously, differences in mutation rates in genomes with differing proteome sizes, differences in DNA repair capacity and genome GC content

  3. Filtering genetic variants and placing informative priors based on putative biological function.

    PubMed

    Friedrichs, Stefanie; Malzahn, Dörthe; Pugh, Elizabeth W; Almeida, Marcio; Liu, Xiao Qing; Bailey, Julia N

    2016-02-03

    High-density genetic marker data, especially sequence data, imply an immense multiple testing burden. This can be ameliorated by filtering genetic variants, exploiting or accounting for correlations between variants, jointly testing variants, and by incorporating informative priors. Priors can be based on biological knowledge or predicted variant function, or even be used to integrate gene expression or other omics data. Based on Genetic Analysis Workshop (GAW) 19 data, this article discusses diversity and usefulness of functional variant scores provided, for example, by PolyPhen2, SIFT, or RegulomeDB annotations. Incorporating functional scores into variant filters or weights and adjusting the significance level for correlations between variants yielded significant associations with blood pressure traits in a large family study of Mexican Americans (GAW19 data set). Marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure. Variant weights strongly influenced the power of kernel methods and burden tests. Apart from variant weights in test statistics, prior weights may also be used when combining test statistics or to informatively weight p values while controlling false discovery rate (FDR). Indeed, power improved when gene expression data for FDR-controlled informative weighting of association test p values of genes was used. Finally, approaches exploiting variant correlations included identity-by-descent mapping and the optimal strategy for joint testing rare and common variants, which was observed to depend on linkage disequilibrium structure.

  4. Reconstruction of a beech population bottleneck using archival demographic information and Bayesian analysis of genetic data.

    PubMed

    Lander, Tonya A; Oddou-Muratorio, Sylvie; Prouillet-Leplat, Helene; Klein, Etienne K

    2011-12-01

    Range expansion and contraction has occurred in the history of most species and can seriously impact patterns of genetic diversity. Historical data about range change are rare and generally appropriate for studies at large scales, whereas the individual pollen and seed dispersal events that form the basis of geneflow and colonization generally occur at a local scale. In this study, we investigated range change in Fagus sylvatica on Mont Ventoux, France, using historical data from 1838 to the present and approximate Bayesian computation (ABC) analyses of genetic data. From the historical data, we identified a population minimum in 1845 and located remnant populations at least 200 years old. The ABC analysis selected a demographic scenario with three populations, corresponding to two remnant populations and one area of recent expansion. It also identified expansion from a smaller ancestral population but did not find that this expansion followed a population bottleneck, as suggested by the historical data. Despite a strong support to the selected scenario for our data set, the ABC approach showed a low power to discriminate among scenarios on average and a low ability to accurately estimate effective population sizes and divergence dates, probably due to the temporal scale of the study. This study provides an unusual opportunity to test ABC analysis in a system with a well-documented demographic history and identify discrepancies between the results of historical, classical population genetic and ABC analyses. The results also provide valuable insights into genetic processes at work at a fine spatial and temporal scale in range change and colonization.

  5. Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.

    PubMed

    Ayari Jeridi, Hajer; Bouguila, Hédi; Ansperger-Rescher, Birgit; Baroudi, Olfa; Mdimegh, Imen; Omran, Ines; Charradi, Khaoula; Bouzayene, Hssan; Benammar-Elgaaïed, Amel; Lohmann, Dietmar R

    2014-07-01

    Heritable retinoblastoma is caused by oncogenic mutations in the RB1 tumor suppressor gene. Identification of these mutations in patients is important for genetic counseling and clinical management of relatives at risk. In order to lower analytical efforts, we designed a stepwise mutation detection strategy that was adapted to the spectrum of oncogenic RB1 gene mutations. We applied this strategy on 20 unrelated patients with familial and/or de novo bilateral retinoblastoma from Tunisia. In 19 (95%) patients, we detected oncogenic mutations including base substitutions, small length mutations, and large deletions. Further analyses on the origin of the mutations showed mutational mosaicism in one unilaterally affected father of a bilateral proband and incomplete penetrance in two mothers. In a large family with several retinoblastoma patients, the mutation identified in the index patient was also detected in several non-penetrant relatives. RNA analyses showed that this mutation results in an in-frame loss of exon 9. In summary, our strategy can serve as a model for RB1 mutation identification with high analytical sensitivity. Our results point out that genetic testing is needed to reveal or exclude incomplete penetrance specifically in parents of patients with sporadic disease.

  6. Use of molecular markers to improve relationship information in the genetic evaluation of beef cattle tick resistance under pedigree-based models.

    PubMed

    Junqueira, V S; Cardoso, F F; Oliveira, M M; Sollero, B P; Silva, F F; Lopes, P S

    2017-02-01

    The selection of genetically superior individuals is conditional upon accurate breeding value predictions which, in turn, are highly depend on how precisely relationship is represented by pedigree. For that purpose, the numerator relationship matrix is essential as a priori information in mixed model equations. The presence of pedigree errors and/or the lack of relationship information affect the genetic gain because it reduces the correlation between the true and estimated breeding values. Thus, this study aimed to evaluate the effects of correcting the pedigree relationships using single-nucleotide polymorphism (SNP) markers on genetic evaluation accuracies for resistance of beef cattle to ticks. Tick count data from Hereford and Braford cattle breeds were used as phenotype. Genotyping was carried out using a high-density panel (BovineHD - Illumina(®) bead chip with 777 962 SNPs) for sires and the Illumina BovineSNP50 panel (54 609 SNPs) for their progenies. The relationship between the parents and progenies of genotyped animals was evaluated, and mismatches were based on the Mendelian conflicts counts. Variance components and genetic parameters estimates were obtained using a Bayesian approach via Gibbs sampling, and the breeding values were predicted assuming a repeatability model. A total of 460 corrections in relationship definitions were made (Table 1) corresponding to 1018 (9.5%) tick count records. Among these changes, 97.17% (447) were related to the sire's information, and 2.8% (13) were related to the dam's information. We observed 27.2% (236/868) of Mendelian conflicts for sire-progeny genotyped pairs and 14.3% (13/91) for dam-progeny genotyped pairs. We performed 2174 new definitions of half-siblings according to the correlation coefficient between the coancestry and molecular coancestry matrices. It was observed that higher-quality genetic relationships did not result in significant differences of variance components estimates; however, they

  7. Disclosure of Genetic Information and Change in Dietary Intake: A Randomized Controlled Trial

    PubMed Central

    Nielsen, Daiva E.; El-Sohemy, Ahmed

    2014-01-01

    Background Proponents of consumer genetic tests claim that the information can positively impact health behaviors and aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not clear. Methods A double-blinded, parallel group, 2∶1 online randomized controlled trial was conducted to determine the short- and long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 20–35 years (n = 138). The intervention group (n = 92) received personalized DNA-based dietary advice for 12-months and the control group (n = 46) received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary advice. Results Compared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3-months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were advised to limit their sodium intake, significantly reduced their sodium intake (mg/day) compared to the control group (−287.3±114.1 vs. 129.8±118.2, p = 0.008). Those who had the non-risk version of ACE did not significantly change their sodium intake compared to the control group (12-months: −244.2±150.2, p = 0.11). Among those with the risk version of the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to 34% after 12 months (p = 0.06). Conclusions These findings demonstrate that disclosing genetic information for personalized nutrition results in greater changes

  8. Combining genetic and demographic information to prioritize conservation efforts for anadromous alewife and blueback herring

    PubMed Central

    Palkovacs, Eric P; Hasselman, Daniel J; Argo, Emily E; Gephard, Stephen R; Limburg, Karin E; Post, David M; Schultz, Thomas F; Willis, Theodore V

    2014-01-01

    A major challenge in conservation biology is the need to broadly prioritize conservation efforts when demographic data are limited. One method to address this challenge is to use population genetic data to define groups of populations linked by migration and then use demographic information from monitored populations to draw inferences about the status of unmonitored populations within those groups. We applied this method to anadromous alewife (Alosa pseudoharengus) and blueback herring (Alosa aestivalis), species for which long-term demographic data are limited. Recent decades have seen dramatic declines in these species, which are an important ecological component of coastal ecosystems and once represented an important fishery resource. Results show that most populations comprise genetically distinguishable units, which are nested geographically within genetically distinct clusters or stocks. We identified three distinct stocks in alewife and four stocks in blueback herring. Analysis of available time series data for spawning adult abundance and body size indicate declines across the US ranges of both species, with the most severe declines having occurred for populations belonging to the Southern New England and the Mid-Atlantic Stocks. While all alewife and blueback herring populations deserve conservation attention, those belonging to these genetic stocks warrant the highest conservation prioritization. PMID:24567743

  9. Human Variome Project country nodes: documenting genetic information within a country.

    PubMed

    Patrinos, George P; Smith, Timothy D; Howard, Heather; Al-Mulla, Fahd; Chouchane, Lotfi; Hadjisavvas, Andreas; Hamed, Sherifa A; Li, Xi-Tao; Marafie, Makia; Ramesar, Rajkumar S; Ramos, Feliciano J; de Ravel, Thomy; El-Ruby, Mona O; Shrestha, Tilak Ram; Sobrido, María-Jesús; Tadmouri, Ghazi; Witsch-Baumgartner, Martina; Zilfalil, Bin Alwi; Auerbach, Arleen D; Carpenter, Kevin; Cutting, Garry R; Dung, Vu Chi; Grody, Wayne; Hasler, Julia; Jorde, Lynn; Kaput, Jim; Macek, Milan; Matsubara, Yoichi; Padilla, Carmancita; Robinson, Helen; Rojas-Martinez, Augusto; Taylor, Graham R; Vihinen, Mauno; Weber, Tom; Burn, John; Qi, Ming; Cotton, Richard G H; Rimoin, David

    2012-11-01

    The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects.

  10. Policy implications of genetic information on regulation under the Clean Air Act: the case of particulate matter and asthmatics.

    PubMed

    Kramer, C Bradley; Cullen, Alison C; Faustman, Elaine M

    2006-03-01

    The U.S. Clean Air Act (CAA) explicitly guarantees the protection of sensitive human subpopulations from adverse health effects associated with air pollution exposure. Identified subpopulations, such as asthmatics, may carry multiple genetic susceptibilities to disease onset and progression and thus qualify for special protection under the CAA. Scientific advances accelerated as a result of the groundbreaking Human Genome Project enable the quantification of genetic information that underlies such human variability in susceptibility and the cellular mechanisms of disease. In epidemiology and regulatory toxicology, genetic information can more clearly elucidate human susceptibility essential to risk assessment, such as in support of air quality regulation. In an effort to encourage the incorporation of genomic information in regulation, the U.S. Environmental Protection Agency (EPA) has issued an Interim Policy on Genomics. Additional research strategy and policy documents from the National Academy of Science, the U.S. EPA, and the U.S. Department of Health and Human Services further promote the expansion of asthma genetics research for human health risk assessment. Through a review of these government documents, we find opportunities for the inclusion of genetic information in the regulation of air pollutants. In addition, we identify sources of information in recent scientific research on asthma genetics relevant to regulatory standard setting. We conclude with recommendations on how to integrate these approaches for the improvement of regulatory health science and the prerequisites for inclusion of genetic information in decision making.

  11. Synthetic biology with artificially expanded genetic information systems. From personalized medicine to extraterrestrial life.

    PubMed

    Benner, Steven A; Hutter, Daniel; Sismour, A Michael

    2003-01-01

    Over 15 years ago, the Benner group noticed that the DNA alphabet need not be limited to the four standard nucleotides known in natural DNA. Rather, twelve nucleobases forming six base pairs joined by mutually exclusive hydrogen bonding patterns are possible within the geometry of the Watson-Crick pair (Fig. 1). Synthesis and studies on these compounds have brought us to the threshold of a synthetic biology, an artificial chemical system that does basic processes needed for life (in particular, Darwinian evolution), but with unnatural chemical structures. At the same time, the artificial genetic information systems (AEGIS) that we have developed have been used in FDA-approved commercial tests for managing HIV and hepatitis C infections in individual patients, and in a tool that seeks the virus for severe acute respiratory syndrome (SARS). AEGIS also supports the next generation of robotic probes to search for genetic molecules on Mars, Europa, and elsewhere where NASA probes will travel.

  12. Discovering Pair-Wise Genetic Interactions: An Information Theory-Based Approach

    PubMed Central

    Ignac, Tomasz M.; Skupin, Alexander; Sakhanenko, Nikita A.; Galas, David J.

    2014-01-01

    Phenotypic variation, including that which underlies health and disease in humans, results in part from multiple interactions among both genetic variation and environmental factors. While diseases or phenotypes caused by single gene variants can be identified by established association methods and family-based approaches, complex phenotypic traits resulting from multi-gene interactions remain very difficult to characterize. Here we describe a new method based on information theory, and demonstrate how it improves on previous approaches to identifying genetic interactions, including both synthetic and modifier kinds of interactions. We apply our measure, called interaction distance, to previously analyzed data sets of yeast sporulation efficiency, lipid related mouse data and several human disease models to characterize the method. We show how the interaction distance can reveal novel gene interaction candidates in experimental and simulated data sets, and outperforms other measures in several circumstances. The method also allows us to optimize case/control sample composition for clinical studies. PMID:24670935

  13. Generation of Infectious Poliovirus with Altered Genetic Information from Cloned cDNA.

    PubMed

    Bujaki, Erika

    2016-01-01

    The effect of specific genetic alterations on virus biology and phenotype can be studied by a great number of available assays. The following method describes the basic protocol to generate infectious poliovirus with altered genetic information from cloned cDNA in cultured cells.The example explained here involves generation of a recombinant poliovirus genome by simply replacing a portion of the 5' noncoding region with a synthetic gene by restriction cloning. The vector containing the full length poliovirus genome and the insert DNA with the known mutation(s) are cleaved for directional cloning, then ligated and transformed into competent bacteria. The recombinant plasmid DNA is then propagated in bacteria and transcribed to RNA in vitro before RNA transfection of cultured cells is performed. Finally, viral particles are recovered from the cell culture.

  14. Motivating donors to genetic research? Anthropological reasons to rethink the role of informed consent.

    PubMed

    Hoeyer, Klaus; Lynöe, Niels

    2006-01-01

    In this article we explore the contribution from social anthropology to the medical ethical debates about the use of informed consent in research, based on blood samples and other forms of tissue. The article springs from a project exploring donors' motivation for providing blood and healthcare data for genetic research to be executed by a Swedish start-up genomics company. This article is not confined to empirical findings, however, as we suggest that anthropology provides reason to reassess the theoretical understanding of autonomy as generally defined by Beauchamp and Childress. Careful consideration of the trust expressed by donors through the act of donation, furthermore, suggests that there is reason to redirect the ethical scrutiny from informed consent to issues concerning institutional arrangements and social responsibility. In particular, we suggest that an anthropological approach could facilitate a reconsideration of the political implications of using informed consent as a regulatory practice in tissue-based research.

  15. Parent Involvement, Sibling Companionship, and Adolescent Substance Use: A Longitudinal, Genetically-Informed Design

    PubMed Central

    Samek, Diana R.; Rueter, Martha A.; Keyes, Margaret A.; McGue, Matt; Iacono, William G.

    2015-01-01

    A large literature shows that parent and sibling relationship factors are associated with an increased likelihood of adolescent substance use. Less is known about the etiology of these associations. Using a genetically-informed sibling design, we examined the prospective associations between parent involvement, sibling companionship, and adolescent substance use at two points in mid- and late-adolescence. Adolescents were adopted (n = 568) or the biological offspring of both parents (n = 412). Cross-lagged panel results showed that higher levels of parent involvement in early adolescence were associated with lower levels of substance use later in adolescence. Results did not significantly differ across adoption status, suggesting this association cannot be due to passive gene-environment correlation. Adolescent substance use at Time 1 was not significantly associated with parent involvement at Time 2, suggesting this association does not appear to be solely due to evocative (i.e. “child-driven”) effects either. Together, results support a protective influence of parent involvement on subsequent adolescent substance use that is environmental in nature. The cross-paths between sibling companionship and adolescent substance use were significant and negative in direction (i.e., protective) for sisters, but positive for brothers (in line with a social contagion hypothesis). These effects were consistent across genetically related and unrelated pairs, and thus appear to be environmentally mediated. For mixed gender siblings, results were consistent with environmentally-driven, protective influence hypothesis for genetically unrelated pairs, but in line with a genetically influenced, social contagion hypothesis for genetically related pairs. Implications are discussed. PMID:26030026

  16. A Genetically Informed Study of the Longitudinal Relation Between Irritability and Anxious/Depressed Symptoms

    PubMed Central

    Savage, Jeanne; Verhulst, Brad; Copeland, William; Althoff, Robert R.; Lichtenstein, Paul; Roberson-Nay, Roxann

    2015-01-01

    Objective Little is known about the longitudinal genetic and environmental association between juvenile irritability and symptoms of anxiety and depression. This study’s goal was to assess the relationship between these constructs across a critical developmental period spanning childhood to young adulthood. Method Parents (n=1,348 twin pairs) from the Swedish Twin Study of Child and Adolescent Development completed the Child/Adult Behavior Checklist (CBCL/ABCL) about their twin children. Data were collected during a prospective, four-wave study starting in childhood (ages 8–9) and ending in young adulthood (ages 19–20). An irritability score and an anxious/depressed score were computed from CBCL/ABCL item endorsements. Genetically informative cross-lagged models were used to estimate the genetic and environmental relationship between these two constructs across time. Results Our models suggested that irritability more strongly predicted anxious/depressed symptoms than vice versa, consistent with a causal role of irritability on anxiety/depression at older ages. This relationship was significant only in late childhood/early adolescence. Additive genetic and unique environmental factors were significant contributors to both irritability and anxious/depressed symptoms, and were both specific to and shared between these two constructs. The same common environmental factors influenced both constructs, although these factors accounted for a smaller amount of variance than genetic or unique environmental factors. Conclusion This study adds to our understanding of the developmental relationship between irritability and anxious/depressed symptoms and the contribution of genes and environmental factors to their association across development. Findings suggest the need to monitor for emergence of internalizing symptoms in irritable children and their potential need for therapeutic intervention. PMID:25901774

  17. TANTAMOUNT TO FRAUD?: EXPLORING NON-DISCLOSURE OF GENETIC INFORMATION IN LIFE INSURANCE APPLICATIONS AS GROUNDS FOR POLICY RESCISSION.

    PubMed

    Prince, Anya E R

    2016-01-01

    Many genetic counselors recommend that individuals secure desired insurance policies, such as life insurance, prior to undergoing predictive genetic testing. It has been argued, however, that this practice is "tantamount to fraud" and that failure to disclose genetic test results, or conspiring to secure a policy before testing, opens an individual up to legal recourse. This debate traps affected individuals in a Catch-22. If they apply for life insurance and disclose a genetic test result, they may be denied. If they apply without disclosing the information, they may have committed fraud. The consequences of life insurance fraud are significant: If fraud is found on an application, a life insurer can rescind the policy, in some cases even after the individual has passed away. Such a rescission could leave family members or beneficiaries without the benefits of the life insurance policy payment after the individual's death and place them in in economic difficulty. Although it is clear that lying in response to a direct question about genetic testing would be tantamount to fraud, few, if any, life insurance applications currently include broad questions about genetic testing. This paper investigates whether non-disclosure of unasked for genetic information constitutes fraud and explores varying types of insurance questions that could conceivably be interpreted as seeking genetic information. Life insurance applicants generally have no duty to disclose unasked for information, including genetic information, on an application. However, given the complexities of genetic information, individuals may be exposed to fraud and rescission of their life insurance policy despite honest attempts to truthfully and completely answer all application questions.

  18. Reconstructing genetic mating systems in the absence of parental information in colonially breeding waterbirds

    PubMed Central

    2011-01-01

    Spoonbill. In fact, extra-pair paternity and conspecific brood parasitism were common in the latter two species, with a combined frequency of 7.5% and 11.3% in Roseate Spoonbill and Wood Stork, respectively. Although geographically co-distributed, differences among these species may be due to variation in their life histories. From a methodological standpoint, the approach implemented here, although not free from limitations, can have broad application for analyzing systems with limited genealogical information and/or in studying similarly challenging organisms in which obtaining genetic data on complete families is problematic. PMID:21740559

  19. Generating information-rich high-throughput experimental materials genomes using functional clustering via multitree genetic programming and information theory.

    PubMed

    Suram, Santosh K; Haber, Joel A; Jin, Jian; Gregoire, John M

    2015-04-13

    High-throughput experimental methodologies are capable of synthesizing, screening and characterizing vast arrays of combinatorial material libraries at a very rapid rate. These methodologies strategically employ tiered screening wherein the number of compositions screened decreases as the complexity, and very often the scientific information obtained from a screening experiment, increases. The algorithm used for down-selection of samples from higher throughput screening experiment to a lower throughput screening experiment is vital in achieving information-rich experimental materials genomes. The fundamental science of material discovery lies in the establishment of composition-structure-property relationships, motivating the development of advanced down-selection algorithms which consider the information value of the selected compositions, as opposed to simply selecting the best performing compositions from a high throughput experiment. Identification of property fields (composition regions with distinct composition-property relationships) in high throughput data enables down-selection algorithms to employ advanced selection strategies, such as the selection of representative compositions from each field or selection of compositions that span the composition space of the highest performing field. Such strategies would greatly enhance the generation of data-driven discoveries. We introduce an informatics-based clustering of composition-property functional relationships using a combination of information theory and multitree genetic programming concepts for identification of property fields in a composition library. We demonstrate our approach using a complex synthetic composition-property map for a 5 at. % step ternary library consisting of four distinct property fields and finally explore the application of this methodology for capturing relationships between composition and catalytic activity for the oxygen evolution reaction for 5429 catalyst compositions in a

  20. Customized oligonucleotide microchips that convert multiple genetic information to simple patterns, are portable and reusable

    DOEpatents

    Mirzabekov, Andrei; Guschin, Dmitry Y.; Chik, Valentine; Drobyshev, Aleksei; Fotin, Alexander; Yershov, Gennadiy; Lysov, Yuri

    2002-01-01

    This invention relates to using customized oligonucleotide microchips as biosensors for the detection and identification of nucleic acids specific for different genes, organisms and/or individuals in the environment, in food and in biological samples. The microchips are designed to convert multiple bits of genetic information into simpler patterns of signals that are interpreted as a unit. Because of an improved method of hybridizing oligonucleotides from samples to microchips, microchips are reusable and transportable. For field study, portable laser or bar code scanners are suitable.

  1. Understanding of Genetic Information in Higher Secondary Students in Northeast India and the Implications for Genetics Education

    ERIC Educational Resources Information Center

    Chattopadhyay, Ansuman

    2005-01-01

    Since the work of Watson and Crick in the mid-1950s, the science of genetics has become increasingly molecular. The development of recombinant DNA technologies by the agricultural and pharmaceutical industries led to the introduction of genetically modified organisms (GMOs). By the end of the twentieth century, reports of animal cloning and recent…

  2. Are Aquatic Viruses a Biological Archive of Genetic Information from Universe?

    NASA Astrophysics Data System (ADS)

    Toparceanu, F.; Negoita, Gh. T.; Nita, I. I.; Sava, D.

    2009-04-01

    After 1990, when the viruses were admited as the most abundant lifeforms from aquatic environments, it became obvious that viral lysis had an essential role on release and recycling of nutrients. Studies on cellular cultures and modeling suggest that this is an important quantitative process. The viruses from oceans represent the widest source of genetic diversity on the Earth, uncharacterized yet. The ancient lifeforms records stretching back a million years are locked in ice caps. The trend of glaciers melting as effect of actual climate change will promote the release of ancient viruses from ice caps. The increasing of the freshwater layer led to the replace of some algae species by others. Law-Racovitza Station (69o23'S 76o23'E) from East Antarctica (Larsemann Hills Oasis) offers opportunities to study the Antarctic marine ecosystem, as well as archaic aquatic ecosystems from this area ( 150 lakes and waterways resulted from ice and snow melting during the austral summer). According to Law-Racovitza Station Scientific Program, we are performing studies regarding the effect of climate changes on virus-algae host relationship in these aquatic ecosystems. Phycodnaviruses, that infect the eukaryote algae, are comprised of ancient genes and they are considered a "peek" of genetic diversity useful in biological studies and exobiology regarding the evolution of genetic sequencing. The latest discoveries of the giant aquatic viruses open the unexpected perspectives for understanding the role of viral infection in global ecosystem; beyond the old concept which considered that the viruses were only etiological agents of human, animals and plants illnesses. The aquatic viruses which infect microalgae contain similar genes of other viruses, bacteria, arhebacteria and eukaryotes, all of them being on the same genome. Which is the signification of enormous abundance of viruses and excessive diversity of genetic information encoded by viruses? There is the possibility that

  3. SOCIAL ADVERSITY, GENETIC VARIATION, STREET CODE, AND AGGRESSION: A GENETICLLY INFORMED MODEL OF VIOLENT BEHAVIOR

    PubMed Central

    Simons, Ronald L.; Lei, Man Kit; Stewart, Eric A.; Brody, Gene H.; Beach, Steven R. H.; Philibert, Robert A.; Gibbons, Frederick X.

    2011-01-01

    Elijah Anderson (1997, 1999) argues that exposure to extreme community disadvantage, residing in “street” families, and persistent discrimination encourage many African Americans to develop an oppositional culture that he labels the “code of the street.” Importantly, while the adverse conditions described by Anderson increase the probability of adopting the code of the street, most of those exposed to these adverse conditions do not do so. The present study examines the extent to which genetic variation accounts for these differences. Although the diathesis-stress model guides most genetically informed behavior science, the present study investigates hypotheses derived from the differential susceptibility perspective (Belsky & Pluess, 2009). This model posits that some people are genetically predisposed to be more susceptible to environmental influence than others. An important implication of the model is that those persons most vulnerable to adverse social environments are the same ones who reap the most benefit from environmental support. Using longitudinal data from a sample of several hundred African American males, we examined the manner in which variants in three genes - 5-HTT, DRD4, and MAOA - modulate the effect of community and family adversity on adoption of the street code and aggression. We found strong support for the differential susceptibility perspective. When the social environment was adverse, individuals with these genetic variants manifested more commitment to the street code and aggression than those with other genotypes, whereas when adversity was low they demonstrated less commitment to the street code and aggression than those with other genotypes. PMID:23785260

  4. Mining the Unknown: A Systems Approach to Metabolite Identification Combining Genetic and Metabolic Information

    PubMed Central

    Krumsiek, Jan; Suhre, Karsten; Evans, Anne M.; Mitchell, Matthew W.; Mohney, Robert P.; Milburn, Michael V.; Wägele, Brigitte; Römisch-Margl, Werner; Illig, Thomas; Adamski, Jerzy; Gieger, Christian; Theis, Fabian J.; Kastenmüller, Gabi

    2012-01-01

    Recent genome-wide association studies (GWAS) with metabolomics data linked genetic variation in the human genome to differences in individual metabolite levels. A strong relevance of this metabolic individuality for biomedical and pharmaceutical research has been reported. However, a considerable amount of the molecules currently quantified by modern metabolomics techniques are chemically unidentified. The identification of these “unknown metabolites” is still a demanding and intricate task, limiting their usability as functional markers of metabolic processes. As a consequence, previous GWAS largely ignored unknown metabolites as metabolic traits for the analysis. Here we present a systems-level approach that combines genome-wide association analysis and Gaussian graphical modeling with metabolomics to predict the identity of the unknown metabolites. We apply our method to original data of 517 metabolic traits, of which 225 are unknowns, and genotyping information on 655,658 genetic variants, measured in 1,768 human blood samples. We report previously undescribed genotype–metabotype associations for six distinct gene loci (SLC22A2, COMT, CYP3A5, CYP2C18, GBA3, UGT3A1) and one locus not related to any known gene (rs12413935). Overlaying the inferred genetic associations, metabolic networks, and knowledge-based pathway information, we derive testable hypotheses on the biochemical identities of 106 unknown metabolites. As a proof of principle, we experimentally confirm nine concrete predictions. We demonstrate the benefit of our method for the functional interpretation of previous metabolomics biomarker studies on liver detoxification, hypertension, and insulin resistance. Our approach is generic in nature and can be directly transferred to metabolomics data from different experimental platforms. PMID:23093944

  5. Mining the unknown: a systems approach to metabolite identification combining genetic and metabolic information.

    PubMed

    Krumsiek, Jan; Suhre, Karsten; Evans, Anne M; Mitchell, Matthew W; Mohney, Robert P; Milburn, Michael V; Wägele, Brigitte; Römisch-Margl, Werner; Illig, Thomas; Adamski, Jerzy; Gieger, Christian; Theis, Fabian J; Kastenmüller, Gabi

    2012-01-01

    Recent genome-wide association studies (GWAS) with metabolomics data linked genetic variation in the human genome to differences in individual metabolite levels. A strong relevance of this metabolic individuality for biomedical and pharmaceutical research has been reported. However, a considerable amount of the molecules currently quantified by modern metabolomics techniques are chemically unidentified. The identification of these "unknown metabolites" is still a demanding and intricate task, limiting their usability as functional markers of metabolic processes. As a consequence, previous GWAS largely ignored unknown metabolites as metabolic traits for the analysis. Here we present a systems-level approach that combines genome-wide association analysis and Gaussian graphical modeling with metabolomics to predict the identity of the unknown metabolites. We apply our method to original data of 517 metabolic traits, of which 225 are unknowns, and genotyping information on 655,658 genetic variants, measured in 1,768 human blood samples. We report previously undescribed genotype-metabotype associations for six distinct gene loci (SLC22A2, COMT, CYP3A5, CYP2C18, GBA3, UGT3A1) and one locus not related to any known gene (rs12413935). Overlaying the inferred genetic associations, metabolic networks, and knowledge-based pathway information, we derive testable hypotheses on the biochemical identities of 106 unknown metabolites. As a proof of principle, we experimentally confirm nine concrete predictions. We demonstrate the benefit of our method for the functional interpretation of previous metabolomics biomarker studies on liver detoxification, hypertension, and insulin resistance. Our approach is generic in nature and can be directly transferred to metabolomics data from different experimental platforms.

  6. Genetic Diversity of Cryptosporidium in Children in an Urban Informal Settlement of Nairobi, Kenya

    PubMed Central

    Mbae, Cecilia; Mulinge, Erastus; Waruru, Anthony; Ngugi, Benjamin; Wainaina, James; Kariuki, Samuel

    2015-01-01

    Introduction Globally Cryptosporidium and Giardia species are the most common non-bacterial causes of diarrhoea in children and HIV infected individuals, yet data on their role in paediatric diarrhoea in Kenya remains scant. This study investigated the occurrence of Cryptosporidium species, genotypes and subtypes in children, both hospitalized and living in an informal settlement in Nairobi. Methods This was a prospective cross-sectional study in which faecal specimen positive for Cryptosporidium spp. by microscopy from HIV infected and uninfected children aged five years and below presenting with diarrhoea at selected outpatient clinics in Mukuru informal settlements, or admitted to the paediatric ward at the Mbagathi District Hospital were characterized. The analysis was done by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) of the 18srRNA gene for species identification and PCR-sequencing of the 60 kDa glycoprotein (GP60) gene for subtyping. Results C. hominis was the most common species of Cryptosporidium identified in125/151(82.8%) of the children. Other species identified were C. parvum 18/151(11.9%), while C. felis and C. meleagridis were identified in 4 and 2 children, respectively. Wide genetic variation was observed within C. hominis, with identification of 5 subtype families; Ia, Ib, Id, Ie and If and 21 subtypes. Only subtype family IIc was identified within C. parvum. There was no association between species and HIV status or patient type. Conclusion C. hominis is the most common species associated with diarrhoea in the study population. There was high genetic variability in the C. hominis isolates with 22 different subtypes identified, whereas genetic diversity was low within C. parvum with only one subtype family IIc identified. PMID:26691531

  7. SHARE: an adaptive algorithm to select the most informative set of SNPs for candidate genetic association.

    PubMed

    Dai, James Y; Leblanc, Michael; Smith, Nicholas L; Psaty, Bruce; Kooperberg, Charles

    2009-10-01

    Association studies have been widely used to identify genetic liability variants for complex diseases. While scanning the chromosomal region 1 single nucleotide polymorphism (SNP) at a time may not fully explore linkage disequilibrium, haplotype analyses tend to require a fairly large number of parameters, thus potentially losing power. Clustering algorithms, such as the cladistic approach, have been proposed to reduce the dimensionality, yet they have important limitations. We propose a SNP-Haplotype Adaptive REgression (SHARE) algorithm that seeks the most informative set of SNPs for genetic association in a targeted candidate region by growing and shrinking haplotypes with 1 more or less SNP in a stepwise fashion, and comparing prediction errors of different models via cross-validation. Depending on the evolutionary history of the disease mutations and the markers, this set may contain a single SNP or several SNPs that lay a foundation for haplotype analyses. Haplotype phase ambiguity is effectively accounted for by treating haplotype reconstruction as a part of the learning procedure. Simulations and a data application show that our method has improved power over existing methodologies and that the results are informative in the search for disease-causal loci.

  8. Conservation of genetic information: a code for site-specific DNA recognition.

    PubMed Central

    Harris, L F; Sullivan, M R; Hickok, D F

    1993-01-01

    We present findings of genetic information conservation between the glucocorticoid response element (GRE) DNA and the cDNA encoding the glucocorticoid receptor (GR) DNA-binding domain (DBD). The regions of nucleotide sub-sequence similarity to the GRE in the GR DBD occur specifically at nucleotide sequences on the ends of exons 3,4, and 5 at their splice junction sites. These sequences encode the DNA recognition helix on exon 3, a beta-strand on exon 4, and a putative alpha-helix on exon 5, respectively. The nucleotide sequence of exon 5 that encodes the putative alpha-helix located on the carboxyl terminus of the GR DBD shares sequence similarity with the flanking nucleotide regions of the GRE. We generated a computer model of the GR DBD using atomic coordinates derived from nuclear magnetic resonance spectroscopy to which we attached the exon 5-encoded putative alpha-helix. We docked this GR DBD structure at the 39-base-pair nucleotide sequence containing the GRE binding site and flanking nucleotides, which contained conserved genetic information. We observed that amino acids of the DNA recognition helix, the beta-strand, and the putative alpha-helix are spatially aligned with trinucleotides identical to their cognate codons within the GRE and its flanking nucleotides. Images Fig. 3 PMID:8516297

  9. Ancient dna from pleistocene fossils: Preservation, recovery, and utility of ancient genetic information for quaternary research

    NASA Astrophysics Data System (ADS)

    Yang, Hong

    Until recently, recovery and analysis of genetic information encoded in ancient DNA sequences from Pleistocene fossils were impossible. Recent advances in molecular biology offered technical tools to obtain ancient DNA sequences from well-preserved Quaternary fossils and opened the possibilities to directly study genetic changes in fossil species to address various biological and paleontological questions. Ancient DNA studies involving Pleistocene fossil material and ancient DNA degradation and preservation in Quaternary deposits are reviewed. The molecular technology applied to isolate, amplify, and sequence ancient DNA is also presented. Authentication of ancient DNA sequences and technical problems associated with modern and ancient DNA contamination are discussed. As illustrated in recent studies on ancient DNA from proboscideans, it is apparent that fossil DNA sequence data can shed light on many aspects of Quaternary research such as systematics and phylogeny. conservation biology, evolutionary theory, molecular taphonomy, and forensic sciences. Improvement of molecular techniques and a better understanding of DNA degradation during fossilization are likely to build on current strengths and to overcome existing problems, making fossil DNA data a unique source of information for Quaternary scientists.

  10. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  11. Difference and Choice: Exploring Prenatal Testing and the Use of Genetic Information with People with Learning Difficulties.

    ERIC Educational Resources Information Center

    Ward, Linda; Howarth, Joyce; Rodgers, Jackie

    2002-01-01

    This article describes two workshops that explained the use of prenatal testing and genetic information to inform choices in pregnancy to people with learning difficulties, explored the issues with them, and describe the contribution subsequently made by these people to a British national conference on this subject. (Contains references.)…

  12. "Obligated aliens": recognizing sperm donors' ethical obligation to disclose genetic information.

    PubMed

    Tamir, Sivan

    2013-03-01

    Sperm donors' obligations are typically constrained to the immediate circumstances surrounding the donation and to its time frame. This paper makes the case for recognizing an ongoing ethical obligation that binds sperm donors to disclose, in a timely manner, meaningful genetic information to recipients and donor-conceived children. The paper delineates and conceptualizes the suggested (potentially reciprocal) duty and argues that it is not the genetic link between the donor and the donor-conceived child that binds donors by said duty, but rather social responsibility. Accordingly, an original perception of the donor as an obligated alien is suggested and developed. The main thesis of the paper is supported inter alia by a comparison between transmitting infectious diseases and passing faulty genes on to donor-conceived children. The paper also provides an in-depth analysis of the conflicting interests of the parties generated by such an obligation and proposes a model for embedding this ethical duty in a (legal) contractual framework.

  13. An efficient system for selectively altering genetic information within mRNAs

    PubMed Central

    Montiel-González, Maria Fernanda; Vallecillo-Viejo, Isabel C.; Rosenthal, Joshua J. C.

    2016-01-01

    Site-directed RNA editing (SDRE) is a strategy to precisely alter genetic information within mRNAs. By linking the catalytic domain of the RNA editing enzyme ADAR to an antisense guide RNA, specific adenosines can be converted to inosines, biological mimics for guanosine. Previously, we showed that a genetically encoded iteration of SDRE could target adenosines expressed in human cells, but not efficiently. Here we developed a reporter assay to quantify editing, and used it to improve our strategy. By enhancing the linkage between ADAR's catalytic domain and the guide RNA, and by introducing a mutation in the catalytic domain, the efficiency of converting a UAG premature termination codon (PTC) to tryptophan (UGG) was improved from ∼11 % to ∼70 %. Other PTCs were edited, but less efficiently. Numerous off-target edits were identified in the targeted mRNA, but not in randomly selected endogenous messages. Off-target edits could be eliminated by reducing the amount of guide RNA with a reduction in on-target editing. The catalytic rate of SDRE was compared with those for human ADARs on various substrates and found to be within an order of magnitude of most. These data underscore the promise of site-directed RNA editing as a therapeutic or experimental tool. PMID:27557710

  14. DHLAS: A web-based information system for statistical genetic analysis of HLA population data.

    PubMed

    Thriskos, P; Zintzaras, E; Germenis, A

    2007-03-01

    DHLAS (database HLA system) is a user-friendly, web-based information system for the analysis of human leukocyte antigens (HLA) data from population studies. DHLAS has been developed using JAVA and the R system, it runs on a Java Virtual Machine and its user-interface is web-based powered by the servlet engine TOMCAT. It utilizes STRUTS, a Model-View-Controller framework and uses several GNU packages to perform several of its tasks. The database engine it relies upon for fast access is MySQL, but others can be used a well. The system estimates metrics, performs statistical testing and produces graphs required for HLA population studies: (i) Hardy-Weinberg equilibrium (calculated using both asymptotic and exact tests), (ii) genetics distances (Euclidian or Nei), (iii) phylogenetic trees using the unweighted pair group method with averages and neigbor-joining method, (iv) linkage disequilibrium (pairwise and overall, including variance estimations), (v) haplotype frequencies (estimate using the expectation-maximization algorithm) and (vi) discriminant analysis. The main merit of DHLAS is the incorporation of a database, thus, the data can be stored and manipulated along with integrated genetic data analysis procedures. In addition, it has an open architecture allowing the inclusion of other functions and procedures.

  15. The 2014 Varsity Medical Ethics Debate: should we allow genetic information to be patented?

    PubMed

    Metcalfe, Kiloran H M; Worsley, Calum A; Swerner, Casey B; Sinha, Devan; Solanki, Ravi; Ravi, Krithi; Dattani, Raj S

    2015-05-20

    The 2014 Varsity Medical Ethics debate convened upon the motion: "This house believes that genetic information should not be commoditised". This annual debate between students from the Universities of Oxford and Cambridge, now in its sixth year, provided the starting point for arguments on the subject. The present article brings together and extends many of the arguments put forward during the debate. We explore the circumstances under which genetic material should be considered patentable, the possible effects of this on the research and development of novel therapeutics, and the need for clear guidelines within this rapidly developing field.The Varsity Medical Debate was first held in 2008 with the aim of allowing students to engage in discussion about ethics and policy within healthcare. Two Oxford medical students, Mahiben Maruthappu and Sanjay Budheo founded the event. The event is held annually and it is hoped that this will allow future leaders to voice a perspective on the arguments behind topics that will feature heavily in future healthcare and science policy. This year the Oxford University Medical Society at the Oxford Union hosted the debate.

  16. Incorporating Functional Genomic Information in Genetic Association Studies Using an Empirical Bayes Approach

    PubMed Central

    Spencer, Amy V.; Cox, Angela; Lin, Wei‐Yu; Easton, Douglas F.; Michailidou, Kyriaki

    2016-01-01

    ABSTRACT There is a large amount of functional genetic data available, which can be used to inform fine‐mapping association studies (in diseases with well‐characterised disease pathways). Single nucleotide polymorphism (SNP) prioritization via Bayes factors is attractive because prior information can inform the effect size or the prior probability of causal association. This approach requires the specification of the effect size. If the information needed to estimate a priori the probability density for the effect sizes for causal SNPs in a genomic region isn't consistent or isn't available, then specifying a prior variance for the effect sizes is challenging. We propose both an empirical method to estimate this prior variance, and a coherent approach to using SNP‐level functional data, to inform the prior probability of causal association. Through simulation we show that when ranking SNPs by our empirical Bayes factor in a fine‐mapping study, the causal SNP rank is generally as high or higher than the rank using Bayes factors with other plausible values of the prior variance. Importantly, we also show that assigning SNP‐specific prior probabilities of association based on expert prior functional knowledge of the disease mechanism can lead to improved causal SNPs ranks compared to ranking with identical prior probabilities of association. We demonstrate the use of our methods by applying the methods to the fine mapping of the CASP8 region of chromosome 2 using genotype data from the Collaborative Oncological Gene‐Environment Study (COGS) Consortium. The data we analysed included approximately 46,000 breast cancer case and 43,000 healthy control samples. PMID:26833494

  17. Is There a Role for Genetic Information in Risk Assessment and Decision Making in Prostate Cancer?

    PubMed Central

    Nowroozi, Mohamadreza; Ayati, Mohsen; Amini, Erfan; Mahdian, Reza; Yousefi, Behzad; Arbab, Amir; Jamali Zawarei, Mansour; Niroomand, Hasan; Ghorbani, Hamidreza; Ghadian, Alireza

    2016-01-01

    Objectives Prostate cancer is a neoplasm with a variable natural history and clinical behavior. There is much debate on the use of inherited genetic information in clinical application including risk assessment and treatment decisions. This study was performed to evaluate the relationship between clinical parameters of prostate cancer (PSA, Gleason score, and metastasis) and expression of NKX3.1, AMACR, TMPRSS2-ERG, ERG, and SPINK1 genes. Methods Newly diagnosed cases of prostate cancer were selected for this study. Thirty four tissue samples were obtained via open radical prostatectomy and 9 samples were obtained via needle biopsy. Each tissue sample was sectioned into two parts, one used for detection of malignant changes and Gleason score determination, and the other immersed in RNA later solution (Qiagen). The expression of NKX3.1, AMACR, TMPRSS2-ERG, ERG, and SPINK1 genes were assessed by real-time PCR assay. Correlation between expression of each gene and PSA level, Gleason score, and presence of metastasis were examined. Results A total number of 43 specimens were studied, from which 9 were obtained from patients with metastatic prostate cancer. The expression of five examined genes had no correlation with PSA level and Gleason score. The expression of AMACR decreased in metastatic prostate cancer (P = 0.02). The expression of other genes showed no difference between metastatic and non-metastatic tumors (P > 0.1). Conclusions Genetic information combined with clinical data can be useful in risk assessment and treatment planning. Based on the results of the current study, the decreased expression of AMACR was a sign of poor prognosis. PMID:27933279

  18. Genetic pool information reflects highly suitable areas: the case of two parapatric endangered species of Tuco-tucos (Rodentia: Ctenomiydae).

    PubMed

    Galiano, Daniel; Bernardo-Silva, Jorge; Freitas, Thales R O de

    2014-01-01

    Conservation of small mammals requires knowledge of the genetically and ecologically meaningful spatial scales at which species respond to habitat modifications. Conservation strategies can be improved through the use of ecological niche models and genetic data to classify areas of high environmental suitability. In this study, we applied a Maxent model integrated with genetic information (nucleotide diversity, haplotype diversity and Fu's Fs neutrality tests) to evaluate potential genetic pool populations with highly suitable areas for two parapatric endangered species of tuco-tucos (Ctenomys minutus and C. lami). Our results demonstrated that both species were largely influenced by vegetation and soil variables at a landscape scale and inhabit a highly specific niche. Ctenomys minutus was also influenced by the variable altitude; the species was associated with low altitudes (sea level). Our model of genetic data associated with environmental suitability indicate that the genetic pool data were associated with highly suitable areas for C. minutus. This pattern was not evident for C. lami, but this outcome could be a consequence of the restricted range of the species. The preservation of species requires not only detailed knowledge of their natural history and genetic structure but also information on the availability of suitable areas where species can survive, and such knowledge can aid significantly in conservation planning. This finding reinforces the use of these two techniques for planning conservation actions.

  19. Genetic Pool Information Reflects Highly Suitable Areas: The Case of Two Parapatric Endangered Species of Tuco-tucos (Rodentia: Ctenomiydae)

    PubMed Central

    Galiano, Daniel; Bernardo-Silva, Jorge; de Freitas, Thales R. O.

    2014-01-01

    Conservation of small mammals requires knowledge of the genetically and ecologically meaningful spatial scales at which species respond to habitat modifications. Conservation strategies can be improved through the use of ecological niche models and genetic data to classify areas of high environmental suitability. In this study, we applied a Maxent model integrated with genetic information (nucleotide diversity, haplotype diversity and Fu's Fs neutrality tests) to evaluate potential genetic pool populations with highly suitable areas for two parapatric endangered species of tuco-tucos (Ctenomys minutus and C. lami). Our results demonstrated that both species were largely influenced by vegetation and soil variables at a landscape scale and inhabit a highly specific niche. Ctenomys minutus was also influenced by the variable altitude; the species was associated with low altitudes (sea level). Our model of genetic data associated with environmental suitability indicate that the genetic pool data were associated with highly suitable areas for C. minutus. This pattern was not evident for C. lami, but this outcome could be a consequence of the restricted range of the species. The preservation of species requires not only detailed knowledge of their natural history and genetic structure but also information on the availability of suitable areas where species can survive, and such knowledge can aid significantly in conservation planning. This finding reinforces the use of these two techniques for planning conservation actions. PMID:24819251

  20. Estimation of total genetic effects for survival time in crossbred laying hens showing cannibalism, using pedigree or genomic information.

    PubMed

    Brinker, T; Raymond, B; Bijma, P; Vereijken, A; Ellen, E D

    2017-02-01

    Mortality of laying hens due to cannibalism is a major problem in the egg-laying industry. Survival depends on two genetic effects: the direct genetic effect of the individual itself (DGE) and the indirect genetic effects of its group mates (IGE). For hens housed in sire-family groups, DGE and IGE cannot be estimated using pedigree information, but the combined effect of DGE and IGE is estimated in the total breeding value (TBV). Genomic information provides information on actual genetic relationships between individuals and might be a tool to improve TBV accuracy. We investigated whether genomic information of the sire increased TBV accuracy compared with pedigree information, and we estimated genetic parameters for survival time. A sire model with pedigree information (BLUP) and a sire model with genomic information (ssGBLUP) were used. We used survival time records of 7290 crossbred offspring with intact beaks from four crosses. Cross-validation was used to compare the models. Using ssGBLUP did not improve TBV accuracy compared with BLUP which is probably due to the limited number of sires available per cross (~50). Genetic parameter estimates were similar for BLUP and ssGBLUP. For both BLUP and ssGBLUP, total heritable variance (T(2) ), expressed as a proportion of phenotypic variance, ranged from 0.03 ± 0.04 to 0.25 ± 0.09. Further research is needed on breeding value estimation for socially affected traits measured on individuals kept in single-family groups.

  1. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention

    PubMed Central

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L.; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M.

    2017-01-01

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18–25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10−4) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe. PMID:28272299

  2. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention.

    PubMed

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M

    2017-03-06

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18-25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10(-4)) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe.

  3. Availability of birth defects and genetic disease information in public libraries -- implications for the Human Genome Project

    SciTech Connect

    Sell, S.; Gettig, E.; Mulvihill, J.J.

    1994-09-01

    In order to better educate the public about birth defects and genetic diseases/testing, access to information is critical. The public library system of the United States is extensive and serves as an invaluable resource to citizens. We surveyed reference librarians at each of 87 public libraries in Allegheny and Westmoreland Counties, Pennsylvania. The study design included a questionnaire to ascertain the genetic knowledge of reference librarians and cataloged current resources in print and via telecommunications available to the public. A high compliance rate was achieved due to the incentive of providing copies of the Alliance of Genetic Support Group Directory to those who responded to the survey along with complete sets of the forty-three March of Dimes Information Sheets currently available. Analysis of demographic data related to the age, gender, and educational background, in addition to the occurrence of personal experiences with genetic disease was ascertained. Reference librarians were chosen as the study group due to the common experience of families seeking further information from the public library after or prior to a genetic consultation. As the Human Genome Project identifies new genes for conditions, people will seek public information more frequently. The study shows that public libraries are an appropriate point of education to and for the public.

  4. Arabidopsis Hormone Database: a comprehensive genetic and phenotypic information database for plant hormone research in Arabidopsis.

    PubMed

    Peng, Zhi-yu; Zhou, Xin; Li, Linchuan; Yu, Xiangchun; Li, Hongjiang; Jiang, Zhiqiang; Cao, Guangyu; Bai, Mingyi; Wang, Xingchun; Jiang, Caifu; Lu, Haibin; Hou, Xianhui; Qu, Lijia; Wang, Zhiyong; Zuo, Jianru; Fu, Xiangdong; Su, Zhen; Li, Songgang; Guo, Hongwei

    2009-01-01

    Plant hormones are small organic molecules that influence almost every aspect of plant growth and development. Genetic and molecular studies have revealed a large number of genes that are involved in responses to numerous plant hormones, including auxin, gibberellin, cytokinin, abscisic acid, ethylene, jasmonic acid, salicylic acid, and brassinosteroid. Here, we develop an Arabidopsis hormone database, which aims to provide a systematic and comprehensive view of genes participating in plant hormonal regulation, as well as morphological phenotypes controlled by plant hormones. Based on data from mutant studies, transgenic analysis and gene ontology (GO) annotation, we have identified a total of 1026 genes in the Arabidopsis genome that participate in plant hormone functions. Meanwhile, a phenotype ontology is developed to precisely describe myriad hormone-regulated morphological processes with standardized vocabularies. A web interface (http://ahd.cbi.pku.edu.cn) would allow users to quickly get access to information about these hormone-related genes, including sequences, functional category, mutant information, phenotypic description, microarray data and linked publications. Several applications of this database in studying plant hormonal regulation and hormone cross-talk will be presented and discussed.

  5. Genetic networks and the flow of positional information in embryonic development

    NASA Astrophysics Data System (ADS)

    Bialek, William

    When we study a biological system, we make inferences about the underlying mechanisms and dynamics. But biological systems themselves must also solve inference problems, as when our brains draw conclusions about the world given (often quite limited) data from our eyes and ears. My colleagues and I have been exploring both of these inference problems as they play out in the first hours of development in the fruit fly embryo. In this system, the concentrations of particular molecules encode the position of each cell in the embryo, and these concentrations are the outputs of a genetic network. Putting ourselves in the place of the cells, we have been able to read the code, building a dictionary that maps gene expression levels back into estimates of position. If our dictionary really is the one used by the embryo, then mutants should build predictably distorted body plans, and preliminary results show quantitative agreement with these predictions. Independent of their role as carriers of information, we can also analyze the patterns of gene expression to draw inferences about the underlying network. Finally, it is possible that the network architecture and parameters have been chosen to optimize the flow of information, and we see signatures of this optimization. Joint work with CG Callan, JO Dubuis, T Gregor, D Krotov, M Petkova, TR Sokolowski, G Tkacik, AM Walczak, and EF Wieschaus.

  6. Consumer Perception of Genetically Modified Organisms and Sources of Information123

    PubMed Central

    Wunderlich, Shahla; Gatto, Kelsey A

    2015-01-01

    Genetically modified organisms (GMOs) have been available for commercial purchase since the 1990s, allowing producers to increase crop yields through bioengineering that creates herbicide-resistant and insect-resistant varieties. However, consumer knowledge about GMOs has not increased at the same rate as the adoption of GMO crops. Consumers worldwide are displaying limited understanding, misconceptions, and even unfamiliarity with GMO food products. Many consumers report that they receive information about GMO food products from the media, Internet, and other news sources. These sources may be less reliable than scientific experts whom consumers trust more to present the facts. Although many in the United States support mandatory GMO labeling (similar to current European standards), consumer awareness of current GMO labeling is low. A distinction must also be made between GMO familiarity and scientific understanding, because those who are more familiar with it tend to be more resistant to bioengineering, whereas those with higher scientific knowledge scores tend to have less negative attitudes toward GMOs. This brings to question the relation between scientific literacy, sources of information, and overall consumer knowledge and perception of GMO foods. PMID:26567205

  7. Self and informant report ratings of psychopathology in genetic generalized epilepsy.

    PubMed

    Loughman, Amy; Bowden, Stephen C; D'Souza, Wendyl J

    2017-02-01

    The psychological sequelae of genetic generalized epilepsies (GGE) is of growing research interest, with up to a third of all adults with GGE experiencing significant psychiatric comorbidity according to a recent systematic review. A number of unexplored questions remain. Firstly, there is insufficient evidence to determine relative prevalence of psychopathology between GGE syndromes. Secondly, the degree to which self-report and informant-report questionnaires accord in adults with epilepsy is unknown. Finally, while epilepsy severity is one likely predictor of worse psychopathology in GGE, evidence regarding other possible contributing factors such as epilepsy duration and antiepileptic drugs (AEDs) has been equivocal. The potential impact of subclinical epileptiform discharges remains unexplored. Self-report psychopathology symptoms across six DSM-Oriented Subscales were prospectively measured in 60 adults with GGE, with informant-report provided for a subset of 47. We assessed the burden of symptoms from both self- and informant-report, and the relationship between clinical epilepsy variables and self-reported symptoms. Results showed elevated symptoms in almost half of the sample overall. Depression and anxiety were the most commonly reported types of symptoms. There was a trend towards greater symptoms endorsement by self-report, and relatively modest interrater agreement. Symptoms of ADHD were significantly positively associated with number of AEDs currently prescribed. Other psychopathology symptoms were not significantly predicted by epilepsy duration, seizure-free duration or total duration of epileptiform discharges over a 24-hour period. The high prevalence of psychological needs suggests that routine screening of psychopathology and provision of psychoeducation may be essential to improving patient care and outcomes. Further investigation is required to better understand predictive and causal factors for psychopathology in GGE.

  8. Lost in translation: preclinical studies on 3,4-methylenedioxymethamphetamine provide information on mechanisms of action, but do not allow accurate prediction of adverse events in humans

    PubMed Central

    Green, AR; King, MV; Shortall, SE; Fone, KCF

    2012-01-01

    3,4-Methylenedioxymethamphetamine (MDMA) induces both acute adverse effects and long-term neurotoxic loss of brain 5-HT neurones in laboratory animals. However, when choosing doses, most preclinical studies have paid little attention to the pharmacokinetics of the drug in humans or animals. The recreational use of MDMA and current clinical investigations of the drug for therapeutic purposes demand better translational pharmacology to allow accurate risk assessment of its ability to induce adverse events. Recent pharmacokinetic studies on MDMA in animals and humans are reviewed and indicate that the risks following MDMA ingestion should be re-evaluated. Acute behavioural and body temperature changes result from rapid MDMA-induced monoamine release, whereas long-term neurotoxicity is primarily caused by metabolites of the drug. Therefore acute physiological changes in humans are fairly accurately mimicked in animals by appropriate dosing, although allometric dosing calculations have little value. Long-term changes require MDMA to be metabolized in a similar manner in experimental animals and humans. However, the rate of metabolism of MDMA and its major metabolites is slower in humans than rats or monkeys, potentially allowing endogenous neuroprotective mechanisms to function in a species specific manner. Furthermore acute hyperthermia in humans probably limits the chance of recreational users ingesting sufficient MDMA to produce neurotoxicity, unlike in the rat. MDMA also inhibits the major enzyme responsible for its metabolism in humans thereby also assisting in preventing neurotoxicity. These observations question whether MDMA alone produces long-term 5-HT neurotoxicity in human brain, although when taken in combination with other recreational drugs it may induce neurotoxicity. LINKED ARTICLES This article is commented on by Parrott, pp. 1518–1520 of this issue. To view this commentary visit http://dx.doi.org/10.1111/j.1476-5381.2012.01941.x and to view the the

  9. Student Information Systems Demystified: The Increasing Demand for Accurate, Timely Data Means Schools and Districts Are Relying Heavily on SIS Technologies

    ERIC Educational Resources Information Center

    McIntire, Todd

    2004-01-01

    Student information systems, one of the first applications of computer technology in education, are undergoing a significant transition yet again. The first major shift in SIS technologies occurred about 15 years ago when they evolved from mainframe programs to client-server solutions. Now, vendors across the board are offering centralized…

  10. Owning genetic information and gene enhancement techniques: why privacy and property rights may undermine social control of the human genome.

    PubMed

    Moore, A D

    2000-04-01

    In this article I argue that the proper subjects of intangible property claims include medical records, genetic profiles, and gene enhancement techniques. Coupled with a right to privacy these intangible property rights allow individuals a zone of control that will, in most cases, justifiably exclude governmental or societal invasions into private domains. I argue that the threshold for overriding privacy rights and intangible property rights is higher, in relation to genetic enhancement techniques and sensitive personal information, than is commonly suggested. Once the bar is raised, so-to-speak, the burden of overriding it is formidable. Thus many policy decisions that have been recently proposed or enacted--citywide audio and video surveillance, law enforcement DNA sweeps, genetic profiling, national bans on genetic testing and enhancement of humans, to name a few--will have to be backed by very strong arguments.

  11. The application of genetic information for regulatory standard setting under the clean air act: a decision-analytic approach.

    PubMed

    Cullen, Alison C; Corrales, Mark A; Kramer, C Bradley; Faustman, Elaine M

    2008-08-01

    In 2002, the U.S. Environmental Protection Agency (EPA) released an "Interim Policy on Genomics," stating a commitment to developing guidance on the inclusion of genetic information in regulatory decision making. This statement was followed in 2004 by a document exploring the potential implications. Genetic information can play a key role in understanding and quantifying human susceptibility, an essential step in many of the risk assessments used to shape policy. For example, the federal Clean Air Act (CAA) requires EPA to set National Ambient Air Quality Standards (NAAQS) for criteria pollutants at levels to protect even sensitive populations from adverse health effects with an adequate margin of safety. Asthmatics are generally regarded as a sensitive population, yet substantial research gaps in understanding genetic susceptibility and disease have hindered quantitative risk analysis. This case study assesses the potential role of genomic information regarding susceptible populations in the NAAQS process for fine particulate matter (PM(2.5)) under the CAA. In this initial assessment, we model the contribution of a single polymorphism to asthma risk and mortality risk; however, multiple polymorphisms and interactions (gene-gene and gene-environment) are known to play key roles in the disease process. We show that the impact of new information about susceptibility on estimates of population risk or average risk derived from large epidemiological studies depends on the circumstances. We also suggest that analysis of a single polymorphism, or other risk factor such as health status, may or may not change estimates of individual risk enough to alter a particular regulatory decision, but this depends on specific characteristics of the decision and risk information. We also show how new information about susceptibility in the context of the NAAQS for PM(2.5) could have a large impact on the estimated distribution of individual risk. This would occur if a group were

  12. Nature-nurture interplay: genetically informative designs contribute to understanding the effects of trauma and interpersonal violence.

    PubMed

    Koenen, Karestan C

    2005-04-01

    The past two decades have seen an explosion in research in the fields of violence and trauma and behavior genetics. These two fields came into direct conflict when Lisabeth Fisher DiLalla and Irving I. Gottesman outlined a fundamental conceptual limitation of trauma and violence research: that rather than being causal, the well-documented relationship between exposure to trauma or violence and later negative outcomes could be explained by gene-environment correlation. In the past decade, researchers have addressed this limitation by studying the effects of trauma and violence using genetically informative designs. This report briefly discusses the gains made from this research approach and the promising future for genetically informative trauma and violence research.

  13. Learning Syntactic Rules and Tags with Genetic Algorithms for Information Retrieval and Filtering: An Empirical Basis for Grammatical Rules.

    ERIC Educational Resources Information Center

    Losee, Robert M.

    1996-01-01

    The grammars of natural languages may be learned by using genetic algorithm systems such as LUST (Linguistics Using Sexual Techniques) that reproduce and mutate grammatical rules and parts-of-speech tags. In document retrieval or filtering systems, applying tags to the list of terms representing a document provides additional information about…

  14. Effectiveness of the Conceptual Change Texts Accompanied by Concept Maps about Students' Understanding of the Molecules Carrying Genetical Information

    ERIC Educational Resources Information Center

    Tastan, Ibrahim; Dikmenli, Musa; Cardak, Osman

    2008-01-01

    This study aims to investigate the effects of concept maps, together with conceptual change texts, given to 11th grade students' on the subject of molecules carrying genetical information. The semistructured individual interviews were conducted with 5 upper class students to find misconceptions related to the subject. A success test was developed…

  15. Relationships between Parental Negativity and Childhood Antisocial Behavior over Time: A Bidirectional Effects Model in a Longitudinal Genetically Informative Design

    ERIC Educational Resources Information Center

    Larsson, Henrik; Viding, Essi; Rijsdijk, Fruhling V.; Plomin, Robert

    2008-01-01

    This study examined the direction and etiology underlying the relationships between parental negativity and early childhood antisocial behavior using a bidirectional effects model in a longitudinal genetically informative design. We analyzed parent reports of parental negativity and early childhood antisocial behavior in 6,230 pairs of twins at 4…

  16. GeMes, Clusters of DNA Methylation under Genetic Control, Can Inform Genetic and Epigenetic Analysis of Disease

    PubMed Central

    Liu, Yun; Li, Xin; Aryee, Martin J.; Ekström, Tomas J.; Padyukov, Leonid; Klareskog, Lars; Vandiver, Amy; Moore, Ann Zenobia; Tanaka, Toshiko; Ferrucci, Luigi; Fallin, M. Daniele; Feinberg, Andrew P.

    2014-01-01

    Epigenetic marks such as DNA methylation have generated great interest in the study of human disease. However, studies of DNA methylation have not established population-epigenetics principles to guide design, efficient statistics, or interpretation. Here, we show that the clustering of correlated DNA methylation at CpGs was similar to that of linkage-disequilibrium (LD) correlation in genetic SNP variation but for much shorter distances. Some clustering of methylated CpGs appeared to be genetically driven. Further, a set of correlated methylated CpGs related to a single SNP-based LD block was not always physically contiguous—segments of uncorrelated methylation as long as 300 kb could be interspersed in the cluster. Thus, we denoted these sets of correlated CpGs as GeMes, defined as potentially noncontiguous methylation clusters under the control of one or more methylation quantitative trait loci. This type of correlated methylation structure has implications for both biological functions of DNA methylation and for the design, analysis, and interpretation of epigenome-wide association studies. PMID:24656863

  17. BLGAN: Bayesian learning and genetic algorithm for supporting negotiation with incomplete information.

    PubMed

    Sim, Kwang Mong; Guo, Yuanyuan; Shi, Benyun

    2009-02-01

    Automated negotiation provides a means for resolving differences among interacting agents. For negotiation with complete information, this paper provides mathematical proofs to show that an agent's optimal strategy can be computed using its opponent's reserve price (RP) and deadline. The impetus of this work is using the synergy of Bayesian learning (BL) and genetic algorithm (GA) to determine an agent's optimal strategy in negotiation (N) with incomplete information. BLGAN adopts: 1) BL and a deadline-estimation process for estimating an opponent's RP and deadline and 2) GA for generating a proposal at each negotiation round. Learning the RP and deadline of an opponent enables the GA in BLGAN to reduce the size of its search space (SP) by adaptively focusing its search on a specific region in the space of all possible proposals. SP is dynamically defined as a region around an agent's proposal P at each negotiation round. P is generated using the agent's optimal strategy determined using its estimations of its opponent's RP and deadline. Hence, the GA in BLGAN is more likely to generate proposals that are closer to the proposal generated by the optimal strategy. Using GA to search around a proposal generated by its current strategy, an agent in BLGAN compensates for possible errors in estimating its opponent's RP and deadline. Empirical results show that agents adopting BLGAN reached agreements successfully, and achieved: 1) higher utilities and better combined negotiation outcomes (CNOs) than agents that only adopt GA to generate their proposals, 2) higher utilities than agents that adopt BL to learn only RP, and 3) higher utilities and better CNOs than agents that do not learn their opponents' RPs and deadlines.

  18. Mating strategies with genomic information reduce rates of inbreeding in animal breeding schemes without compromising genetic gain.

    PubMed

    Liu, H; Henryon, M; Sørensen, A C

    2017-04-01

    We tested the hypothesis that mating strategies with genomic information realise lower rates of inbreeding (∆F) than with pedigree information without compromising rates of genetic gain (∆G). We used stochastic simulation to compare ∆F and ∆G realised by two mating strategies with pedigree and genomic information in five breeding schemes. The two mating strategies were minimum-coancestry mating (MC) and minimising the covariance between ancestral genetic contributions (MCAC). We also simulated random mating (RAND) as a reference point. Generations were discrete. Animals were truncation-selected for a single trait that was controlled by 2000 quantitative trait loci, and the trait was observed for all selection candidates before selection. The criterion for selection was genomic-breeding values predicted by a ridge-regression model. Our results showed that MC and MCAC with genomic information realised 6% to 22% less ∆F than MC and MCAC with pedigree information without compromising ∆G across breeding schemes. MC and MCAC realised similar ∆F and ∆G. In turn, MC and MCAC with genomic information realised 28% to 44% less ∆F and up to 14% higher ∆G than RAND. These results indicated that MC and MCAC with genomic information are more effective than with pedigree information in controlling rates of inbreeding. This implies that genomic information should be applied to more than just prediction of breeding values in breeding schemes with truncation selection.

  19. Transport and transformation of genetic information in the critical zone: The case of antibiotic resistance genes

    NASA Astrophysics Data System (ADS)

    Zhu, Y. G.

    2015-12-01

    In addition to material and energy flows, the dynamics and functions of the Earth's critical zone are intensively mediated by biological actions performed by diverse organisms. These biological actions are modulated by the expression of functional genes and their translation into enzymes that catalyze geochemical reactions, such as nutrient turnover and pollutant biodegradation. Although geobiology, as an interdisciplinary research area, is playing and vital role in linking biological and geochemical processes at different temporal and spatial scales, the distribution and transport of functional genes have rarely been investigated from the Earth's critical zone perspectives. To illustrate the framework of studies on the transport and transformation of genetic information in the critical zone, antibiotic resistance is taken as an example. Antibiotic resistance genes are considered as a group of emerging contaminants, and their emergence and spread within the critical zone on one hand are induced by anthropogenic activities, and on other hand are threatening human health worldwide. The transport and transformation of antibiotic resistance genes are controlled by both horizontal gene transfer between bacterial cells and the movement of bacteria harboring antibiotic resistance genes. In this paper, the fate and behavior of antibiotic resistance genes will be discussed in the following aspects: 1) general overview of environmental antibiotic resistance; 2) high through quantification of the resistome in various environmental media; 3) pathways of resistance gene flow within the critical zone; and 4) potential strategies in mitigating antibiotic resistance, particularly from the critical zone perspectives.

  20. Molecular weight-dependent genetic information transfer with disulfide-linked polyethylenimine-based nonviral vectors.

    PubMed

    Parhiz, Hamideh; Hashemi, Maryam; Hatefi, Arash; Shier, Wayne Thomas; Farzad, Sara Amel; Ramezani, Mohammad

    2013-07-01

    One strategy for improving gene vector properties of polyethylenimine is to facilitate individual transfection mechanism steps. This study investigates (i) improving transfection efficiency by attaching peptide nuclear localization signals (nuclear localization signals: SV40 large T antigen nuclear localization signal or C-terminus of histone H1) to polyethylenimine (10 kDa) and (ii) using disulfide linkages, which are expected to be stable during polyplex formation, but cleaved inside cells giving improved gene release. Nuclear localization signal-containing polyplexes exhibited low cytotoxicity, whereas transfection efficiency with high molecular weight plasmid DNA increased up to 3.6 times that of underivatized polyethylenimine in Neuro2A cells at higher molar ratio of polyethylenimine-nitrogen to DNA-phosphate (N/P) ratios. However, with luciferase-specific low molecular weight small interfering RNA in Neuro2A/EGFPLuc cells, nuclear localization signal-containing polyplexes with disulfide linkages caused substantial cytotoxicity at N/P ratios >15 and no consistent significant reduction in luciferase expression. Possible explanations for molecular weight-dependent differences in genetic information transfer by polyplexes containing disulfide-linked nuclear localization signals are discussed.

  1. Regulations Under the Americans With Disabilities Act; Genetic Information Nondiscrimination Act. Final rule.

    PubMed

    2016-05-17

    The Equal Employment Opportunity Commission (EEOC or Commission) is issuing its final rule to amend the regulations and interpretive guidance implementing Title I of the Americans with Disabilities Act (ADA) to provide guidance on the extent to which employers may use incentives to encourage employees to participate in wellness programs that ask them to respond to disability-related inquiries and/or undergo medical examinations. This rule applies to all wellness programs that include disability-related inquiries and/or medical examinations whether they are offered only to employees enrolled in an employer-sponsored group health plan, offered to all employees regardless of whether they are enrolled in such a plan, or offered as a benefit of employment by employers that do not sponsor a group health plan or group health insurance. Published elsewhere in this issue of the Federal Register, the EEOC also issued a final rule to amend the regulations implementing Title II of the Genetic Information Nondiscrimination Act (GINA) that addresses the extent to which employers may offer incentives for an employee's spouse to participate in a wellness program.

  2. Information and redundancy: key concepts in understanding the genetic control of health and intelligence.

    PubMed

    Morris, J A

    1999-08-01

    A model is proposed in which information from the environment is analysed by complex biological decision-making systems which are highly redundant. A correct response is intelligent behaviour which preserves health; incorrect responses lead to disease. Mutations in genes which code for the redundant systems will accumulate in the genome and impair decision-making. The number of mutant genes will depend upon a balance between the new mutation rate per generation and systems of elimination based on synergistic interaction in redundant systems. This leads to a polygenic pattern of inheritance for intelligence and the common diseases. The model also gives a simple explanation for some of the hitherto puzzling aspects of work on the genetic basis of intelligence including the recorded rise in IQ this century. There is a prediction that health, intelligence and socio-economic position will be correlated generating a health differential in the social hierarchy. Furthermore, highly competitive societies will place those least able to cope in the harshest environment and this will impair health overall. The model points to a need for population monitoring of somatic mutation in order to preserve the health and intelligence of future generations.

  3. Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

    PubMed Central

    Aronson, Samuel; Mahanta, Lisa; Ros, Lei Lei; Clark, Eugene; Babb, Lawrence; Oates, Michael; Rehm, Heidi; Lebo, Matthew

    2016-01-01

    Academic medical centers require many interconnected systems to fully support genetic testing processes. We provide an overview of the end-to-end support that has been established surrounding a genetic testing laboratory within our environment, including both laboratory and clinician facing infrastructure. We explain key functions that we have found useful in the supporting systems. We also consider ways that this infrastructure could be enhanced to enable deeper assessment of genetic test results in both the laboratory and clinic. PMID:26805890

  4. Mouse models of human AML accurately predict chemotherapy response

    PubMed Central

    Zuber, Johannes; Radtke, Ina; Pardee, Timothy S.; Zhao, Zhen; Rappaport, Amy R.; Luo, Weijun; McCurrach, Mila E.; Yang, Miao-Miao; Dolan, M. Eileen; Kogan, Scott C.; Downing, James R.; Lowe, Scott W.

    2009-01-01

    The genetic heterogeneity of cancer influences the trajectory of tumor progression and may underlie clinical variation in therapy response. To model such heterogeneity, we produced genetically and pathologically accurate mouse models of common forms of human acute myeloid leukemia (AML) and developed methods to mimic standard induction chemotherapy and efficiently monitor therapy response. We see that murine AMLs harboring two common human AML genotypes show remarkably diverse responses to conventional therapy that mirror clinical experience. Specifically, murine leukemias expressing the AML1/ETO fusion oncoprotein, associated with a favorable prognosis in patients, show a dramatic response to induction chemotherapy owing to robust activation of the p53 tumor suppressor network. Conversely, murine leukemias expressing MLL fusion proteins, associated with a dismal prognosis in patients, are drug-resistant due to an attenuated p53 response. Our studies highlight the importance of genetic information in guiding the treatment of human AML, functionally establish the p53 network as a central determinant of chemotherapy response in AML, and demonstrate that genetically engineered mouse models of human cancer can accurately predict therapy response in patients. PMID:19339691

  5. Mouse models of human AML accurately predict chemotherapy response.

    PubMed

    Zuber, Johannes; Radtke, Ina; Pardee, Timothy S; Zhao, Zhen; Rappaport, Amy R; Luo, Weijun; McCurrach, Mila E; Yang, Miao-Miao; Dolan, M Eileen; Kogan, Scott C; Downing, James R; Lowe, Scott W

    2009-04-01

    The genetic heterogeneity of cancer influences the trajectory of tumor progression and may underlie clinical variation in therapy response. To model such heterogeneity, we produced genetically and pathologically accurate mouse models of common forms of human acute myeloid leukemia (AML) and developed methods to mimic standard induction chemotherapy and efficiently monitor therapy response. We see that murine AMLs harboring two common human AML genotypes show remarkably diverse responses to conventional therapy that mirror clinical experience. Specifically, murine leukemias expressing the AML1/ETO fusion oncoprotein, associated with a favorable prognosis in patients, show a dramatic response to induction chemotherapy owing to robust activation of the p53 tumor suppressor network. Conversely, murine leukemias expressing MLL fusion proteins, associated with a dismal prognosis in patients, are drug-resistant due to an attenuated p53 response. Our studies highlight the importance of genetic information in guiding the treatment of human AML, functionally establish the p53 network as a central determinant of chemotherapy response in AML, and demonstrate that genetically engineered mouse models of human cancer can accurately predict therapy response in patients.

  6. Patterns of genetic structure and evidence of gene flow among Tunisian Citrus species based on informative nSSR markers.

    PubMed

    Ben Romdhane, Meriam; Riahi, Leila; Selmi, Ayet; Zoghlami, Nejia

    2016-01-01

    This study investigates the extent of genetic diversity, phylogenetic relationships and the amount of gene flow among Tunisian Citrus species based on a set of 15 informative nuclear SSR molecular markers. Genotyping data highlighted an allelic richness among Tunisian Citrus species and has allowed the detection of 168 alleles among them 104.19 were effective. The partition of the total genetic diversity (HT=0.832) showed that the highest amount of variation within the Citrus species is HS=0.550, while the relative amount of the between-species genetic diversity GST does not exceed 0.338. This pattern of genetic structure was supported by low-to-moderate FST pairwise values and the presence of a gene flow (Nm) among the eight Citrus species. The lowest genetic differentiation was revealed between the species C. sinensis and C. insitorum (FST=0.111, Nm=1.99), while the highest genetic differentiation was recorded between the species C. aurantifolia and C. paradisi (FST=0.367, Nm=0.43). The established Neighbor Joining analysis showed that all genotypes were widely discriminated and clearly pooled according to their species of origin, with minor exceptions.

  7. Genetic Assessments and Parentage Analysis of Captive Bolson Tortoises (Gopherus flavomarginatus) Inform Their “Rewilding” in New Mexico

    PubMed Central

    Edwards, Taylor; Cox, Elizabeth Canty; Buzzard, Vanessa; Wiese, Christiane; Hillard, L. Scott; Murphy, Robert W.

    2014-01-01

    The Bolson tortoise (Gopherus flavomarginatus) is the first species of extirpated megafauna to be repatriated into the United States. In September 2006, 30 individuals were translocated from Arizona to New Mexico with the long-term objective of restoring wild populations via captive propagation. We evaluated mtDNA sequences and allelic diversity among 11 microsatellite loci from the captive population and archived samples collected from wild individuals in Durango, Mexico (n = 28). Both populations exhibited very low genetic diversity and the captive population captured roughly 97.5% of the total wild diversity, making it a promising founder population. Genetic screening of other captive animals (n = 26) potentially suitable for reintroduction uncovered multiple hybrid G. flavomarginatus×G. polyphemus, which were ineligible for repatriation; only three of these individuals were verified as purebred G. flavomarginatus. We used these genetic data to inform mate pairing, reduce the potential for inbreeding and to monitor the maintenance of genetic diversity in the captive population. After six years of successful propagation, we analyzed the parentage of 241 hatchlings to assess the maintenance of genetic diversity. Not all adults contributed equally to successive generations. Most yearly cohorts of hatchlings failed to capture the diversity of the parental population. However, overlapping generations of tortoises helped to alleviate genetic loss because the entire six-year cohort of hatchlings contained the allelic diversity of the parental population. Polyandry and sperm storage occurred in the captives and future management strategies must consider such events. PMID:25029369

  8. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting

    PubMed Central

    Schulte, P. A.; Whittaker, C.; Curran, C. P.

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments. PMID:26583908

  9. Relative contributions of neutral and non-neutral genetic differentiation to inform conservation of steelhead trout across highly variable landscapes

    PubMed Central

    Matala, Andrew P; Ackerman, Michael W; Campbell, Matthew R; Narum, Shawn R

    2014-01-01

    Mounting evidence of climatic effects on riverine environments and adaptive responses of fishes have elicited growing conservation concerns. Measures to rectify population declines include assessment of local extinction risk, population ecology, viability, and genetic differentiation. While conservation planning has been largely informed by neutral genetic structure, there has been a dearth of critical information regarding the role of non-neutral or functional genetic variation. We evaluated genetic variation among steelhead trout of the Columbia River Basin, which supports diverse populations distributed among dynamic landscapes. We categorized 188 SNP loci as either putatively neutral or candidates for divergent selection (non-neutral) using a multitest association approach. Neutral variation distinguished lineages and defined broad-scale population structure consistent with previous studies, but fine-scale resolution was also detected at levels not previously observed. Within distinct coastal and inland lineages, we identified nine and 22 candidate loci commonly associated with precipitation or temperature variables and putatively under divergent selection. Observed patterns of non-neutral variation suggest overall climate is likely to shape local adaptation (e.g., potential rapid evolution) of steelhead trout in the Columbia River region. Broad geographic patterns of neutral and non-neutral variation demonstrated here can be used to accommodate priorities for regional management and inform long-term conservation of this species. PMID:25067950

  10. Molecular genetic variation in cultivated peanut cultivars and breeding lines revealed by highly informative SSR markers

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Groundnut or peanut (Arachis hypogaea L.) is an economically important crop worldwide as a source of protein and cooking oil, particularly in developing countries. Because of its narrow genetic background and shortage of polymorphic genetic markers, molecular characterization of cultivated peanuts e...

  11. Information Seeking and Intentions to Have Genetic Testing for Hereditary Cancers in Rural and Appalachian Kentuckians

    ERIC Educational Resources Information Center

    Kelly, Kimberly M.; Andrews, James E; Case, Donald O.; Allard, Suzanne L.; Johnson, J. David

    2007-01-01

    Context: Research is limited regarding the potential of genetic testing for cancer risk in rural Appalachia. Purpose: This study examined perceptions of genetic testing in a population sample of Kentuckians, with a focus on Appalachian and rural differences. The goals were to examine cultural and psychosocial factors that may predict intentions to…

  12. 78 FR 13286 - Sharing Certain Business Information Regarding the Introduction of Genetically Engineered...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-27

    ... produced through genetic engineering that are plant pests or that there is reason to believe are plant pests under 7 CFR part 340, ``Introduction of Organisms and Products Altered or Produced Through Genetic Engineering Which Are Plant Pests or Which There Is Reason to Believe Are Plant Pests'' (referred to below...

  13. Genetic parameters for growth and faecal worm egg count following Haemonchus contortus experimental infestations using pedigree and molecular information

    PubMed Central

    2014-01-01

    Background Haemonchosis is a parasitic disease that causes severe economic losses in sheep industry. In recent years, the increasing resistance of the parasite to anthelmintics has raised the need for alternative control strategies. Genetic selection is a promising alternative but its efficacy depends on the availability of genetic variation and on the occurrence of favourable genetic correlations between the traits included in the breeding goal. The objective of this study was twofold. First, to estimate both the heritability of and the genetic correlations between growth traits and parasite resistance traits, using bivariate linear mixed animal models, from the phenotypes and genotypes of 1004 backcross lambs (considered as a single population), which underwent two subsequent experimental infestations protocols with Haemonchus contortus. Second, to compare the precision of the estimates when using two different relationship matrices: including pedigree information only or including also SNP (single nucleotide polymorphism) information. Results Heritabilities were low for average daily gain before infestation (0.10 to 0.15) and average daily gain during the first infestation (0.11 to 0.16), moderate for faecal egg counts during the first infestation (0.21 to 0.38) and faecal egg counts during the second infestation (0.48 to 0.55). Genetic correlations between both growth traits and faecal egg count during the naïve infestation were equal to zero but the genetic correlation between faecal egg count during the second infestation and growth was positive in a Haemonchus contortus free environment and negative in a contaminated environment. The standard errors of the estimates obtained by including SNP information were smaller than those obtained by including pedigree information only. Conclusions The genetic parameters estimates suggest that growth performance can be selected for independently of selection on resistance to naïve infestation. Selection for increased

  14. Possibilities to improve the genetic evaluation of a rare breed using limited genomic information and multivariate BLUP.

    PubMed

    Pollott, G E; Charlesworth, A; Wathes, D C

    2014-05-01

    The use of molecular genetic information in the evaluation of livestock has become more common. This study looks at the efficacy of using such information to improve the genetic evaluation of a rare breed of dual-purpose cattle. Data were available in the form of pedigree information on the Gloucester cattle breed in the United Kingdom and recorded milk and beef performance on a small number of animals. In addition, molecular genetic information in the form of multi-marker, multiple regression results converted to a 1 to 10 score (Igenity scores) and 123 single nucleotide polymorphism (SNP) genotypes for 199 non-recorded animals were available. Appropriate mixed-animal models were explored for the recorded traits and these were used to calculate estimated breeding values (EBV), and their accuracies, for 6527 animals in the breed's pedigree file. Various ways to improve the accuracy of these EBV were explored. This involved using multivariate BLUP analyses, genomic estimated breeding values (GEBV) and combining Igenity scores with recorded traits in a series of bivariate genetic analyses. Using the milk recording traits as an example, the accuracy of a number of traits could be improved using multivariate analyses by up to 14%, depending on the combination of traits used. The level of increase in accuracy largely corresponded to the absolute difference between the genetic and residual correlations between two traits, but this was not always symmetrical. The use of GEBV did not increase the accuracy of milk trait EBV owing to the low proportion of variance explained by the 101 SNPs used. Using Igenity scores in bivariate analyses with the recorded data was more successful in increasing EBV accuracy. The largest increases were found in genotyped animals with no recorded performance (e.g. a 58% increase in fat weight in milk); however, the size of the increase depended on the level of the genetic correlation between the recorded trait and the Igenity score for that

  15. Using genetically informed, randomized prevention trials to test etiological hypotheses about child and adolescent drug use and psychopathology.

    PubMed

    Brody, Gene H; Beach, Steven R H; Hill, Karl G; Howe, George W; Prado, Guillermo; Fullerton, Stephanie M

    2013-10-01

    In this essay, we describe a new era of public health research in which prevention science principles are combined with genomic science to produce gene × intervention (G × I) research. We note the roles of behavioral and molecular genetics in risk and protective mechanisms for drug use and psychopathology among children and adolescents, and the results of first-generation genetically informed prevention trials are reviewed. We also consider the need for second-generation research that focuses on G × I effects on mediators or intermediate processes. This research can be used to further understanding of etiological processes, to identify individual differences in children's and adolescents' responses to risk, and to increase the precision of prevention programs. We note the caveats about using genetic data to select intervention participants.

  16. Parent and peer influences on emerging adult substance use disorder: A genetically informed study

    PubMed Central

    Bountress, Kaitlin; Chassin, Laurie; Lemery-Chalfant, Kathryn

    2017-01-01

    The present study utilizes longitudinal data from a high-risk community sample to examine the unique effects of genetic risk, parental knowledge about the daily activities of adolescents, and peer substance use on emerging adult substance use disorders (SUDs). These effects are examined over and above a polygenic risk score. In addition, this polygenic risk score is used to examine gene–environment correlation and interaction. The results show that during older adolescence, higher adolescent genetic risk for SUDs predicts less parental knowledge, but this relation is nonsignificant in younger adolescence. Parental knowledge (using mother report) mediates the effects of parental alcohol use disorder (AUD) and adolescent genetic risk on risk for SUD, and peer substance use mediates the effect of parent AUD on offspring SUD. Finally, there are significant gene–environment interactions such that, for those at the highest levels of genetic risk, less parental knowledge and more peer substance use confers greater risk for SUDs. However, for those at medium and low genetic risk, these effects are attenuated. These findings suggest that the evocative effects of adolescent genetic risk on parenting increase with age across adolescence. They also suggest that some of the most important environmental risk factors for SUDs exert effects that vary across level of genetic propensity. PMID:26753847

  17. Characteristics associated with informed consent for genetic studies in the ACCORD trial

    PubMed Central

    Simons-Morton, Denise G.; Chan, Jeffrey C.; Kimel, Angela R.; Linz, Peter E.; Stowe, Cynthia L.; Summerson, John; Ambrosius, Walter T.

    2014-01-01

    Background Prior studies found some groups have lower genetic consent rates than others. Participant consent for genetic studies enables randomized trials to examine effects of interventions compared to control in participants with different genotypes. Methods Unadjusted and multivariate associations between genetic consent rates and participant, study, and consent characteristics in 9,573 participants approached for genetics consent in the multicenter Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial, which used a layered genetics consent. Results Eighty-nine percent of eligible participants consented to genetic studies (“Any Consent”) and 64.7% consented to studies of any genes by any investigator (“Full Consent”), with similar rates in randomized groups. Controlling for multiple characteristics, African-Americans had lower consent rates than others (Any Consent Odds Ratio, OR = 0.62, p=0.0004; Full Consent OR = 0.67, p<0.0001). Those with high school or higher education had higher rates than less than high school graduation (Full Consent ORs 1.41-1.69, p-values <0.0001). Consent rates were lower when genetics consent was separate from the main trial consent on the same day (Any Consent OR 0.30; Full Consent OR 0.52, p values <0.0001) or on a subsequent day (Any Consent OR 0.70, p=0.0022; Full Consent OR 0.76, p=0.0002). Conclusion High rates of consent for genetic studies can be obtained in complex randomized trials, with lower consent rates in African-Americans, in participants with less than high-school education, and for sharing samples with other investigators. A genetics consent separated from the main trial consent was associated with lower consent rates. PMID:24355197

  18. Loss of Genetic Diversity Means Loss of Geological Information: The Endangered Japanese Crayfish Exhibits Remarkable Historical Footprints

    PubMed Central

    Koizumi, Itsuro; Usio, Nisikawa; Kawai, Tadashi; Azuma, Noriko; Masuda, Ryuichi

    2012-01-01

    Intra-specific genetic diversity is important not only because it influences population persistence and evolutionary potential, but also because it contains past geological, climatic and environmental information. In this paper, we show unusually clear genetic structure of the endangered Japanese crayfish that, as a sedentary species, provides many insights into lesser-known past environments in northern Japan. Over the native range, most populations consisted of unique 16S mtDNA haplotypes, resulting in significant genetic divergence (overall FST = 0.96). Owing to the simple and clear structure, a new graphic approach unraveled a detailed evolutionary history; regional crayfish populations were comprised of two distinct lineages that had experienced contrasting demographic processes (i.e. rapid expansion vs. slow stepwise range expansion) following differential drainage topologies and past climate events. Nuclear DNA sequences also showed deep separation between the lineages. Current ocean barriers to dispersal did not significantly affect the genetic structure of the freshwater crayfish, indicating the formation of relatively recent land bridges. This study provides one of the best examples of how phylogeographic analysis can unravel a detailed evolutionary history of a species and how this history contributes to the understanding of the past environment in the region. Ongoing local extinctions of the crayfish lead not only to loss of biodiversity but also to the loss of a significant information regarding past geological and climatic events. PMID:22470505

  19. BIOTECHNOLOGY: Information on Prices of Genetically Modified Seeds in the United States and Argentina

    DTIC Science & Technology

    2000-06-29

    irrigation, and other factors. Roundup Ready soybean seeds were first marketed in the United States and Argentina in 1996. The Monsanto Company, which...While genetically modified seeds are available for many crops, Roundup Ready soybeans and Bt corn are the ones most widely grown. Roundup Ready...soybeans contain a gene that enables soybeans to withstand applications of Roundup -an herbicide effective on many kinds of weeds. Bt corn is genetically

  20. Can sexual selection theory inform genetic management of captive populations? A review

    PubMed Central

    Chargé, Rémi; Teplitsky, Céline; Sorci, Gabriele; Low, Matthew

    2014-01-01

    Captive breeding for conservation purposes presents a serious practical challenge because several conflicting genetic processes (i.e., inbreeding depression, random genetic drift and genetic adaptation to captivity) need to be managed in concert to maximize captive population persistence and reintroduction success probability. Because current genetic management is often only partly successful in achieving these goals, it has been suggested that management insights may be found in sexual selection theory (in particular, female mate choice). We review the theoretical and empirical literature and consider how female mate choice might influence captive breeding in the context of current genetic guidelines for different sexual selection theories (i.e., direct benefits, good genes, compatible genes, sexy sons). We show that while mate choice shows promise as a tool in captive breeding under certain conditions, for most species, there is currently too little theoretical and empirical evidence to provide any clear guidelines that would guarantee positive fitness outcomes and avoid conflicts with other genetic goals. The application of female mate choice to captive breeding is in its infancy and requires a goal-oriented framework based on the needs of captive species management, so researchers can make honest assessments of the costs and benefits of such an approach, using simulations, model species and captive animal data. PMID:25553072

  1. Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public

    PubMed Central

    Dougherty, Michael J.

    2009-01-01

    Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other countries. This underperformance is true for genetics, as well as for science and math in general, and is particularly worrisome given the accelerating need for scientists and engineers in our increasingly technology-driven economy. A scientifically literate public is essential if citizens are to engage effectively with policymakers on issues of scientific importance. Perhaps nowhere is this conjunction more personally meaningful than in human genetics and medicine. Rapid changes in our field have the potential to revolutionize healthcare, but the public is ill prepared to participate in this transformation. One potential solution is to modernize the genetics curriculum so that it matches the science of the 21st century. This paper highlights changes in human genetics that support a curricular reorganization, outlines the problems with current genetics instruction, and proposes a new genetics curriculum. PMID:19559400

  2. SNPs selected by information content outperform randomly selected microsatellite loci for delineating genetic identification and introgression in the endangered dark European honeybee (Apis mellifera mellifera).

    PubMed

    Muñoz, Irene; Henriques, Dora; Jara, Laura; Johnston, J Spencer; Chávez-Galarza, Julio; De La Rúa, Pilar; Pinto, M Alice

    2016-11-14

    The honeybee (Apis mellifera) has been threatened by multiple factors including pests and pathogens, pesticides and loss of locally adapted gene complexes due to replacement and introgression. In western Europe, the genetic integrity of the native A. m. mellifera (M-lineage) is endangered due to trading and intensive queen breeding with commercial subspecies of eastern European ancestry (C-lineage). Effective conservation actions require reliable molecular tools to identify pure-bred A. m. mellifera colonies. Microsatellites have been preferred for identification of A. m. mellifera stocks across conservation centres. However, owing to high throughput, easy transferability between laboratories and low genotyping error, SNPs promise to become popular. Here, we compared the resolving power of a widely utilized microsatellite set to detect structure and introgression with that of different sets that combine a variable number of SNPs selected for their information content and genomic proximity to the microsatellite loci. Contrary to every SNP data set, microsatellites did not discriminate between the two lineages in the PCA space. Mean introgression proportions were identical across the two marker types, although at the individual level, microsatellites' performance was relatively poor at the upper range of Q-values, a result reflected by their lower precision. Our results suggest that SNPs are more accurate and powerful than microsatellites for identification of A. m. mellifera colonies, especially when they are selected by information content.

  3. Founded: Genetic Reconstruction of Lineage Diversity and Kinship Informs Ex situ Conservation of Cuban Amazon Parrots (Amazona leucocephala).

    PubMed

    Milián-García, Yoamel; Jensen, Evelyn L; Madsen, Jeanette; Álvarez Alonso, Suleiky; Serrano Rodríguez, Aryamne; Espinosa López, Georgina; Russello, Michael A

    2015-01-01

    Captive breeding is a widespread conservation strategy, yet such programs rarely include empirical genetic data for assessing management assumptions and meeting conservation goals. Cuban Amazon parrots (Amazona leucocephala) are considered vulnerable, and multiple on-island captive populations have been established from wild-caught and confiscated individuals of unknown ancestry. Here, we used mitochondrial haplotypic and nuclear genotypic data at 9 microsatellite loci to quantify the extent and distribution of genetic variation within and among captive populations in Zapata Swamp and Managua, Cuba, and to estimate kinship among breeders (n = 88). Using Bayesian clustering analysis, we detected 2 distinct clusters within the Zapata population, one of which was shared with Managua. Individuals from the cluster unique to Zapata possessed mitochondrial haplotypes with affinities to Cuban subspecies (A. l. leucocephala, A. l. palmarum); the shared cluster was similar, but also included haplotypes closely related to the subspecies restricted to Cayman Brac (A. l. hesterna). Overall mean kinship was low within each captive population (-0.026 to -0.012), with 19 and 11 recommended breeding pairs in Zapata and Managua, respectively, ranked according to mean kinship and informed by molecular sexing. Our results highlight the importance of understanding population history within ex situ management programs, while providing genetic information to directly inform Cuban parrot conservation.

  4. [The public perception of information about the potential risks of genetically modified crops in the food chain].

    PubMed

    Furnival, Ariadne Chloë; Pinheiro, Sônia Maria

    2008-01-01

    At a time when genetically modified (GM) crops are entering the Brazilian food chain, we present the findings of a study that makes use of a qualitative technique involving focal groups to look into the public's interpretation of the information available about this biotechnological innovation. This methodology produced results that revealed the interconnections drawn by the research subjects between this form of biotechnology, changes to the environment, and food production in general. The mistrust expressed about GM crops was particularly attributed by the participants to the non-availability of comprehensible information in the mass media or on product labels.

  5. How Are Genetic Conditions Diagnosed?

    MedlinePlus

    ... Consultation How are genetic conditions diagnosed? How are genetic conditions diagnosed? A doctor may suspect a diagnosis ... and advocacy resources. For more information about diagnosing genetic conditions: Genetics Home Reference provides information about genetic ...

  6. Personalized Media: A Genetically Informative Investigation of Individual Differences in Online Media Use

    PubMed Central

    Ayorech, Ziada; von Stumm, Sophie; Haworth, Claire M. A.; Davis, Oliver S. P.; Plomin, Robert

    2017-01-01

    Online media use has become an increasingly important behavioral domain over the past decade. However, studies into the etiology of individual differences in media use have focused primarily on pathological use. Here, for the first time, we test the genetic influences on online media use in a UK representative sample of 16 year old twins, who were assessed on time spent on educational (N = 2,585 twin pairs) and entertainment websites (N = 2,614 twin pairs), time spent gaming online (N = 2,635 twin pairs), and Facebook use (N = 4,333 twin pairs). Heritability was substantial for all forms of online media use, ranging from 34% for educational sites to 37% for entertainment sites and 39% for gaming. Furthermore, genetics accounted for 24% of the variance in Facebook use. Our results support an active model of the environment, where young people choose their online engagements in line with their genetic propensities. PMID:28114386

  7. Personalized Media: A Genetically Informative Investigation of Individual Differences in Online Media Use.

    PubMed

    Ayorech, Ziada; von Stumm, Sophie; Haworth, Claire M A; Davis, Oliver S P; Plomin, Robert

    2017-01-01

    Online media use has become an increasingly important behavioral domain over the past decade. However, studies into the etiology of individual differences in media use have focused primarily on pathological use. Here, for the first time, we test the genetic influences on online media use in a UK representative sample of 16 year old twins, who were assessed on time spent on educational (N = 2,585 twin pairs) and entertainment websites (N = 2,614 twin pairs), time spent gaming online (N = 2,635 twin pairs), and Facebook use (N = 4,333 twin pairs). Heritability was substantial for all forms of online media use, ranging from 34% for educational sites to 37% for entertainment sites and 39% for gaming. Furthermore, genetics accounted for 24% of the variance in Facebook use. Our results support an active model of the environment, where young people choose their online engagements in line with their genetic propensities.

  8. A Bayesian network coding scheme for annotating biomedical information presented to genetic counseling clients.

    PubMed

    Green, Nancy

    2005-04-01

    We developed a Bayesian network coding scheme for annotating biomedical content in layperson-oriented clinical genetics documents. The coding scheme supports the representation of probabilistic and causal relationships among concepts in this domain, at a high enough level of abstraction to capture commonalities among genetic processes and their relationship to health. We are using the coding scheme to annotate a corpus of genetic counseling patient letters as part of the requirements analysis and knowledge acquisition phase of a natural language generation project. This paper describes the coding scheme and presents an evaluation of intercoder reliability for its tag set. In addition to giving examples of use of the coding scheme for analysis of discourse and linguistic features in this genre, we suggest other uses for it in analysis of layperson-oriented text and dialogue in medical communication.

  9. An information-theoretic approach to estimating the composite genetic effects contributing to variation among generation means: Moving beyond the joint-scaling test for line cross analysis.

    PubMed

    Blackmon, Heath; Demuth, Jeffery P

    2016-02-01

    The pace and direction of evolution in response to selection, drift, and mutation are governed by the genetic architecture that underlies trait variation. Consequently, much of evolutionary theory is predicated on assumptions about whether genes can be considered to act in isolation, or in the context of their genetic background. Evolutionary biologists have disagreed, sometimes heatedly, over which assumptions best describe evolution in nature. Methods for estimating genetic architectures that favor simpler (i.e., additive) models contribute to this debate. Here we address one important source of bias, model selection in line cross analysis (LCA). LCA estimates genetic parameters conditional on the best model chosen from a vast model space using relatively few line means. Current LCA approaches often favor simple models and ignore uncertainty in model choice. To address these issues we introduce Software for Analysis of Genetic Architecture (SAGA), which comprehensively assesses the potential model space, quantifies model selection uncertainty, and uses model weighted averaging to accurately estimate composite genetic effects. Using simulated data and previously published LCA studies, we demonstrate the utility of SAGA to more accurately define the components of complex genetic architectures, and show that traditional approaches have underestimated the importance of epistasis.

  10. Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.

    PubMed

    Dand, Nick; Schulz, Reiner; Weale, Michael E; Southgate, Laura; Oakey, Rebecca J; Simpson, Michael A; Schlitt, Thomas

    2015-12-01

    Genetic heterogeneity presents a significant challenge for the identification of monogenic disease genes. Whole-exome sequencing generates a large number of candidate disease-causing variants and typical analyses rely on deleterious variants being observed in the same gene across several unrelated affected individuals. This is less likely to occur for genetically heterogeneous diseases, making more advanced analysis methods necessary. To address this need, we present HetRank, a flexible gene-ranking method that incorporates interaction network data. We first show that different genes underlying the same monogenic disease are frequently connected in protein interaction networks. This motivates the central premise of HetRank: those genes carrying potentially pathogenic variants and whose network neighbors do so in other affected individuals are strong candidates for follow-up study. By simulating 1,000 exome sequencing studies (20,000 exomes in total), we model varying degrees of genetic heterogeneity and show that HetRank consistently prioritizes more disease-causing genes than existing analysis methods. We also demonstrate a proof-of-principle application of the method to prioritize genes causing Adams-Oliver syndrome, a genetically heterogeneous rare disease. An implementation of HetRank in R is available via the Website http://sourceforge.net/p/hetrank/.

  11. Genetic Differentiation of Chinese Indigenous Meat Goats Ascertained Using Microsatellite Information

    PubMed Central

    Ling, Y. H.; Zhang, X. D.; Yao, N.; Ding, J. P.; Chen, H. Q.; Zhang, Z. J.; Zhang, Y. H.; Ren, C. H.; Ma, Y. H.; Zhang, X. R.

    2012-01-01

    To investigate the genetic diversity of seven Chinese indigenous meat goat breeds (Tibet goat, Guizhou white goat, Shannan white goat, Yichang white goat, Matou goat, Changjiangsanjiaozhou white goat and Anhui white goat), explain their genetic relationship and assess their integrity and degree of admixture, 302 individuals from these breeds and 42 Boer goats introduced from Africa as reference samples were genotyped for 11 microsatellite markers. Results indicated that the genetic diversity of Chinese indigenous meat goats was rich. The mean heterozygosity and the mean allelic richness (AR) for the 8 goat breeds varied from 0.697 to 0.738 and 6.21 to 7.35, respectively. Structure analysis showed that Tibet goat breed was genetically distinct and was the first to separate and the other Chinese goats were then divided into two sub-clusters: Shannan white goat and Yichang white goat in one cluster; and Guizhou white goat, Matou goat, Changjiangsanjiaozhou white goat and Anhui white goat in the other cluster. This grouping pattern was further supported by clustering analysis and Principal component analysis. These results may provide a scientific basis for the characteristization, conservation and utilization of Chinese meat goats. PMID:25049548

  12. Accurate Finite Difference Algorithms

    NASA Technical Reports Server (NTRS)

    Goodrich, John W.

    1996-01-01

    Two families of finite difference algorithms for computational aeroacoustics are presented and compared. All of the algorithms are single step explicit methods, they have the same order of accuracy in both space and time, with examples up to eleventh order, and they have multidimensional extensions. One of the algorithm families has spectral like high resolution. Propagation with high order and high resolution algorithms can produce accurate results after O(10(exp 6)) periods of propagation with eight grid points per wavelength.

  13. Accurate monotone cubic interpolation

    NASA Technical Reports Server (NTRS)

    Huynh, Hung T.

    1991-01-01

    Monotone piecewise cubic interpolants are simple and effective. They are generally third-order accurate, except near strict local extrema where accuracy degenerates to second-order due to the monotonicity constraint. Algorithms for piecewise cubic interpolants, which preserve monotonicity as well as uniform third and fourth-order accuracy are presented. The gain of accuracy is obtained by relaxing the monotonicity constraint in a geometric framework in which the median function plays a crucial role.

  14. [Genetics and genetic counseling].

    PubMed

    Izzi, Claudia; Liut, Francesca; Dallera, Nadia; Mazza, Cinzia; Magistroni, Riccardo; Savoldi, Gianfranco; Scolari, Francesco

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist.

  15. Genetically determined ancestry is more informative than self-reported race in HIV-infected and -exposed children

    PubMed Central

    Spector, Stephen A.; Brummel, Sean S.; Nievergelt, Caroline M.; Maihofer, Adam X.; Singh, Kumud K.; Purswani, Murli U.; Williams, Paige L.; Hazra, Rohan; Van Dyke, Russell; Seage, George R.

    2016-01-01

    Abstract The Pediatric HIV/AIDS Cohort Study (PHACS), the largest ongoing longitudinal study of perinatal HIV-infected (PHIV) and HIV-exposed, uninfected (PHEU) children in the United States, comprises the Surveillance Monitoring of Antiretroviral Therapy [ART] Toxicities (SMARTT) Study in PHEU children and the Adolescent Master Protocol (AMP) that includes PHIV and PHEU children ≥7 years. Although race/ethnicity is often used to assess health outcomes, this approach remains controversial and may fail to accurately reflect the backgrounds of ancestry-diverse populations as represented in the PHACS participants. In this study, we compared genetically determined ancestry (GDA) and self-reported race/ethnicity (SRR) in the PHACS cohort. GDA was estimated using a highly discriminative panel of 41 single nucleotide polymorphisms and compared to SRR. Because SRR was similar between the PHIV and PHEU, and between the AMP and SMARTT cohorts, data for all unique 1958 participants were combined. According to SRR, 63% of study participants identified as Black/African-American, 27% White, and 34% Hispanic. Using the highest percentage of ancestry/ethnicity to identify GDA, 9.5% of subjects were placed in the incorrect superpopulation based on SRR. When ≥50% or ≥75% GDA of a given superpopulation was required, 12% and 25%, respectively, of subjects were placed in the incorrect superpopulation based on SRR, and the percent of subjects classified as multiracial increased. Of 126 participants with unidentified SRR, 71% were genetically identified as Eurasian. GDA provides a more robust assessment of race/ethnicity when compared to self-report, and study participants with unidentified SRR could be assigned GDA using genetic markers. In addition, identification of continental ancestry removes the taxonomic identification of race as a variable when identifying risk for clinical outcomes. PMID:27603370

  16. Risk estimation and value-of-information analysis for three proposed genetic screening programs for chronic beryllium disease prevention

    SciTech Connect

    Bartell, S.M.; Ponce, R.A.; Takaro, T.K.; Zerbe, R.O.; Omenn, G.S.; Faustman, E.M.

    2000-02-01

    Genetic differences (polymorphisms) among members of a population are thought to influence susceptibility to various environmental exposures. In practice, however, this information is rarely incorporated into quantitative risk assessment and risk management. The authors describe an analytic framework for predicting the risk reduction and value-of-information (VOI) resulting from specific risk management applications of genetic biomarkers, and they apply the framework to the example of occupational chronic beryllium disease (CBD), an immune-mediated pulmonary granulomatous disease. One described Human Leukocyte Antigen gene variant, HLA-DP{beta}1*0201, contains a substitution of glutamate for lysine at position 69 that appears to have high sensitivity ({approximately}94%) but low specificity ({approximately}70%) with respect to CBD among individuals occupationally exposed to respirable beryllium. The expected postintervention CBD prevalence rates for using the genetic variant (1) as a required job placement screen, (2) as a medical screen for semiannual in place of annual lymphocyte proliferation testing, or (3) as a voluntary job placement screen are 0.08%, 0.8%, and 0.6%, respectively, in a hypothetical cohort with 1% baseline CBD prevalence. VOI analysis is used to examine the reduction in total social cost, calculated as the net value of disease reduction and financial expenditures, expected for proposed CBD intervention programs based on the genetic susceptibility test. For the example cohort the expected net VOI per beryllium worker for genetically based testing and intervention is $13,000, $1,800, and $5,100, respectively, based on a health valuation of $1.45 million per CBD case avoided. VOI results for alternative CBD valuations are also presented. Despite large parameter uncertainty, probabilistic analysis predicts generally positive utility for each of the three evaluated programs when avoidance of a CBD case is valued at $1 million or higher. Although

  17. The Locus Lookup Tool at MaizeGDB: Identification of Genomic Regions in Maize by Integrating Sequence Information with Physical and Genetic Maps

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Methods to automatically integrate sequence information with physical and genetic maps are scarce. The Locus Lookup Tool enables researchers to define windows of genomic sequence likely to contain loci of interest where only genetic or physical mapping associations are reported. Using the Locus Look...

  18. Do Other People's Plights Matter? A Genetically Informed Twin Study of the Role of Social Context in the Link between Peer Victimization and Children's Aggression and Depression Symptoms

    ERIC Educational Resources Information Center

    Brendgen, Mara; Vitaro, Frank; Barker, Edward D.; Girard, Alain; Dionne, Ginette; Tremblay, Richard E.; Boivin, Michel

    2013-01-01

    Using a genetically informed design, this study examined the additive and interactive effects of genetic risk, personal peer victimization experiences, and peer victimization experienced by others on children's aggression and depression symptoms. Of major interest was whether these effects varied depending on whether or not the victimized others…

  19. Traits, genes, particles and information: re-visiting students' understandings of genetics

    NASA Astrophysics Data System (ADS)

    Lewis, Jenny; Kattmann, Ulrich

    2004-02-01

    Findings from a study of 10 German students aged 15-19, using problem-centred interviews, suggest that many students hold an 'everyday' conception of genes as small, trait-bearing, particles. Analysis of this notion identified a number of ways in which such a view might restrict the ability of students to develop an understanding of the scientific explanation. For example, if genes are equated with trait there is no clear distinction between genotype and phenotype, and hence little need to consider a mechanism by which a gene could be expressed in the phenotype. This everyday perspective provided a plausible explanation of the difficulties and misconceptions found, after formal teaching of genetics, in a survey of 482 English students aged 14-16 based on written questions and interviews. Drawing on this analysis, an approach to teaching genetics and inheritance that takes account of students' everyday views is suggested.

  20. Combining direct and indirect genetic methods to estimate dispersal for informing wildlife disease management decisions.

    PubMed

    Cullingham, C I; Pond, B A; Kyle, C J; Rees, E E; Rosatte, R C; White, B N

    2008-11-01

    Epidemiological models are useful tools for management to predict and control wildlife disease outbreaks. Dispersal behaviours of the vector are critical in determining patterns of disease spread, and key variables in epidemiological models, yet they are difficult to measure. Raccoon rabies is enzootic over the eastern seaboard of North America and management actions to control its spread are costly. Understanding dispersal behaviours of raccoons can contribute to refining management protocols to reduce economic impacts. Here, estimates of dispersal were obtained through parentage and spatial genetic analyses of raccoons in two areas at the front of the raccoon rabies epizootic in Ontario; Niagara (N = 296) and St Lawrence (N = 593). Parentage analysis indicated the dispersal distance distribution is highly positively skewed with 85% of raccoons, both male and female, moving < 3 km. The tail of this distribution indicated a small proportion (< 4%) moves more than 20 km. Analysis of spatial genetic structure provided a similar assessment as the spatial genetic correlation coefficient dropped sharply after 1 km. Directionality of dispersal would have important implications for control actions; however, evidence of directional bias was not found. Separating the data into age and sex classes the spatial genetic analyses detected female philopatry. Dispersal distances differed significantly between juveniles and adults, while juveniles in the Niagara region were significantly more related to each other than adults were to each other. Factors that may contribute to these differences include kin association, and spring dispersal. Changes to the timing and area covered by rabies control operations in Ontario are indicated based on these dispersal data.

  1. Using a genetically informative design to examine the relationship between breastfeeding and childhood conduct problems.

    PubMed

    Shelton, Katherine H; Collishaw, Stephan; Rice, Frances J; Harold, Gordon T; Thapar, Anita

    2011-12-01

    A number of public health interventions aimed at increasing the uptake of breastfeeding are in place in the United States and other Western countries. While the physical health and nutritional benefits of breastfeeding for the mother and child are relatively well established, the evidence for psychological effects is less clear. This study aimed to examine whether there is an association between breastfeeding and later conduct problems in children. It also considered the extent to which any relationship is attributable to maternally-provided inherited characteristics that influence both likelihood of breastfeeding and child conduct problems. A prenatal cross-fostering design with a sample of 870 families with a child aged 4-11 years was used. Mothers were genetically related or unrelated to their child as a result of assisted reproductive technologies. The relationship between breastfeeding and conduct problems was assessed while controlling for theorised measured confounders by multivariate regression (e.g. maternal smoking, education, and antisocial behaviour), and for unmeasured inherited factors by testing associations separately for related and unrelated mother-child pairs. Breastfeeding was associated with lower levels of conduct disorder symptoms in offspring in middle childhood. Breastfeeding was associated with lower levels of conduct problems even after controlling for observed confounders in the genetically related group, but not in the genetically unrelated group. In contrast, maternal antisocial behaviour showed robust associations with child conduct problems after controlling for measured and inherited confounders. These findings highlight the importance of using genetically sensitive designs in order to test causal environmental influences.

  2. 'Is this knowledge mine and nobody else's? I don't feel that.' Patient views about consent, confidentiality and information-sharing in genetic medicine.

    PubMed

    Dheensa, Sandi; Fenwick, Angela; Lucassen, Anneke

    2016-03-01

    In genetic medicine, a patient's diagnosis can mean their family members are also at risk, raising a question about how consent and confidentiality should function in clinical genetics. This question is particularly pressing when it is unclear whether a patient has shared information. Conventionally, healthcare professionals view confidentiality at an individual level and 'disclosure without consent' as the exception, not the rule. The relational joint account model, by contrast, conceptualises genetic information as confidential at the familial level and encourages professionals to take disclosure as the default position. In this study, we interviewed 33 patients about consent and confidentiality and analysed data thematically. Our first theme showed that although participants thought of certain aspects of genetic conditions--for example, the way they affect day-to-day health--as somewhat personal, they perceived genetic information--for example, the mutation in isolation--as familial. Most thought these elements were separable and thought family members had a right to know the latter, identifying a broad range of harms that would justify disclosure. Our second theme illustrated that participants nonetheless had some concerns about what, if any, implications there would be of professionals treating such information as familial and they emphasised the importance of being informed about the way their information would be shared. Based on these results, we recommend that professionals take disclosure as the default position, but make clear that they will treat genetic information as familial during initial consultations and address any concerns therein.

  3. Using genetic diversity information to establish core collections of Stylosanthes capitata and Stylosanthes macrocephala

    PubMed Central

    Santos-Garcia, Melissa Oliveira; de Toledo-Silva, Guilherme; Sassaki, Rodrigo Possidonio; Ferreira, Thais Helena; Resende, Rosângela Maria Simeão; Chiari, Lucimara; Karia, Cláudio Takao; Carvalho, Marcelo Ayres; Faleiro, Fábio Gelape; Zucchi, Maria Imaculada; de Souza, Anete Pereira

    2012-01-01

    Stylosanthes species are important forage legumes in tropical and subtropical areas. S. macrocephala and S. capitata germplasm collections that consist of 134 and 192 accessions, respectively, are maintained at the Brazilian Agricultural Research Corporation Cerrados (Embrapa-Cerrados). Polymorphic microsatellite markers were used to assess genetic diversity and population structure with the aim to assemble a core collection. The mean values of HO and HE for S. macrocephala were 0.08 and 0.36, respectively, whereas the means for S. capitata were 0.48 and 0.50, respectively. Roger’s genetic distance varied from 0 to 0.83 for S. macrocephala and from 0 to 0.85 for S. capitata. Analysis with STRUCTURE software distinguished five groups among the S. macrocephala accessions and four groups among those of S. capitata. Nei’s genetic diversity was 27% in S. macrocephala and 11% in S. capitata. Core collections were assembled for both species. For S. macrocephala, all of the allelic diversity was represented by 23 accessions, whereas only 13 accessions were necessary to represent all allelic diversity for S. capitata. The data presented herein evidence the population structure present in the Embrapa-Cerrados germplasm collections of S. macrocephala and S. capitata, which may be useful for breeding programs and germplasm conservation. PMID:23271947

  4. Optimizing information flow in small genetic networks. II. Feed-forward interactions.

    PubMed

    Walczak, Aleksandra M; Tkacik, Gasper; Bialek, William

    2010-04-01

    Central to the functioning of a living cell is its ability to control the readout or expression of information encoded in the genome. In many cases, a single transcription factor protein activates or represses the expression of many genes. As the concentration of the transcription factor varies, the target genes thus undergo correlated changes, and this redundancy limits the ability of the cell to transmit information about input signals. We explore how interactions among the target genes can reduce this redundancy and optimize information transmission. Our discussion builds on recent work [Tkacik, Phys. Rev. E 80, 031920 (2009)], and there are connections to much earlier work on the role of lateral inhibition in enhancing the efficiency of information transmission in neural circuits; for simplicity we consider here the case where the interactions have a feed forward structure, with no loops. Even with this limitation, the networks that optimize information transmission have a structure reminiscent of the networks found in real biological systems.

  5. Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci

    PubMed Central

    Di Narzo, Antonio F; Peters, Lauren A; Argmann, Carmen; Stojmirovic, Aleksandar; Perrigoue, Jacqueline; Li, Katherine; Telesco, Shannon; Kidd, Brian; Walker, Jennifer; Dudley, Joel; Cho, Judy; Schadt, Eric E; Kasarskis, Andrew; Curran, Mark; Dobrin, Radu; Hao, Ke

    2016-01-01

    OBJECTIVES: Genome-wide association studies (GWAS) have identified loci reproducibly associated with inflammatory bowel disease (IBD) and other immune-mediated diseases; however, the molecular mechanisms underlying most of genetic susceptibility remain undefined. Expressional quantitative trait loci (eQTL) of disease-relevant tissue can be employed in order to elucidate the genes and pathways affected by disease-specific genetic variance. METHODS: In this study, we derived eQTLs for human whole blood and intestine tissues of anti-tumor necrosis factor-resistant Crohn's disease (CD) patients. We interpreted these eQTLs in the context of published IBD GWAS hits to inform on the disease process. RESULTS: At 10% false discovery rate, we discovered that 5,174 genes in blood and 2,063 genes in the intestine were controlled by a nearby single-nucleotide polymorphism (SNP) (i.e., cis-eQTL), among which 1,360 were shared between the two tissues. A large fraction of the identified eQTLs were supported by the regulomeDB database, showing that the eQTLs reside in regulatory elements (odds ratio; OR=3.44 and 3.24 for blood and intestine eQTLs, respectively) as opposed to protein-coding regions. Published IBD GWAS hits as a whole were enriched for blood and intestine eQTLs (OR=2.88 and 2.05; and P value=2.51E-9 and 0.013, respectively), thereby linking genetic susceptibility to control of gene expression in these tissues. Through a systematic search, we used eQTL data to inform 109 out of 372 IBD GWAS SNPs documented in National Human Genome Research Institute catalog, and we categorized the genes influenced by eQTLs according to their functions. Many of these genes have experimentally validated roles in specific cell types contributing to intestinal inflammation. CONCLUSIONS: The blood and intestine eQTLs described in this study represent a powerful tool to link GWAS loci to a regulatory function and thus elucidate the mechanisms underlying the genetic loci associated with IBD

  6. Golden rice: scientific, regulatory and public information processes of a genetically modified organism.

    PubMed

    Moghissi, A Alan; Pei, Shiqian; Liu, Yinzuo

    2016-01-01

    Historically, agricultural development evolved in three phases. During the first phase the plants were selected on the basis of the availability of a plant with desirable properties at a specific location. The second phase provided the agricultural community with crossbreeding plants to achieve improvement in agricultural production. The evolution of biological knowledge has provided the ability to genetically engineer (GE) crops, one of the key processes within genetically modified organisms (GMO). This article uses golden rice, a species of transgenic Asian rice which contains a precursor of vitamin A in the edible part of the plant as an example of GE/GMO emphasizing Chinese experience in agricultural evolution. It includes a brief review of agricultural evolution to be followed by a description of golden rice development. Golden rice was created as a humanitarian project and has received positive comments by the scientific community and negative voices from certain environmental groups. In this article, we use the Best Available Science (BAS) Concept and Metrics for Evaluation of Scientific Claims (MESC) derived from it to evaluate claims and counter claims on scientific aspects of golden rice. This article concludes that opposition to golden rice is based on belief rather than any of its scientifically derived nutritional, safety or environmental properties.

  7. The impact of sleep duration on adolescent development: a genetically informed analysis of identical twin pairs.

    PubMed

    Barnes, J C; Meldrum, Ryan C

    2015-02-01

    Recent work provides evidence that reduced sleep duration has detrimental effects on a range of developmentally related outcomes during adolescence. Yet, the potential confounding influence of genetic and shared environmental effects has not been sufficiently addressed. This study addresses this issue by analyzing cross-sectional data from the twin sub-sample of the first wave of the National Longitudinal Study of Adolescent Health [N ≈ 287 MZ (monozygotic) twin pairs; 50% male; 22% Black; mean age = 15.75]. Associations between sleep duration (measured through two different strategies, one tapping number of hours slept at night and the other measuring weeknight bedtimes) and seven outcomes (self-control, depressive symptoms, suicidal ideation, body mass index, violent delinquency, non-violent delinquency, and drug use) were estimated. Consistent with prior research, associations between sleep duration and several outcomes were statistically significant when using standard social science analytic methods. Yet, when employing a methodology that accounts for genetic and shared environmental influences, some of these associations were reduced to non-significance. Still, two consistent associations remained in that participants who reported sleeping fewer hours at night (or who reported later bedtimes) exhibited lower levels of self-control and more depressive symptoms. Implications of the findings and directions for future research are discussed.

  8. Accurate quantum chemical calculations

    NASA Technical Reports Server (NTRS)

    Bauschlicher, Charles W., Jr.; Langhoff, Stephen R.; Taylor, Peter R.

    1989-01-01

    An important goal of quantum chemical calculations is to provide an understanding of chemical bonding and molecular electronic structure. A second goal, the prediction of energy differences to chemical accuracy, has been much harder to attain. First, the computational resources required to achieve such accuracy are very large, and second, it is not straightforward to demonstrate that an apparently accurate result, in terms of agreement with experiment, does not result from a cancellation of errors. Recent advances in electronic structure methodology, coupled with the power of vector supercomputers, have made it possible to solve a number of electronic structure problems exactly using the full configuration interaction (FCI) method within a subspace of the complete Hilbert space. These exact results can be used to benchmark approximate techniques that are applicable to a wider range of chemical and physical problems. The methodology of many-electron quantum chemistry is reviewed. Methods are considered in detail for performing FCI calculations. The application of FCI methods to several three-electron problems in molecular physics are discussed. A number of benchmark applications of FCI wave functions are described. Atomic basis sets and the development of improved methods for handling very large basis sets are discussed: these are then applied to a number of chemical and spectroscopic problems; to transition metals; and to problems involving potential energy surfaces. Although the experiences described give considerable grounds for optimism about the general ability to perform accurate calculations, there are several problems that have proved less tractable, at least with current computer resources, and these and possible solutions are discussed.

  9. Disclosing Huntington's Genetic Testing Results in the Context of Intellectual Disability and Guardianship: Using the Family Illness Narrative to Guide the Flow of Information.

    PubMed

    Warren, Mark B; Schak, Kathryn M

    2016-10-15

    A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management.

  10. NO RELATIONSHIP BETWEEN INTELLIGENCE AND FACIAL ATTRACTIVENESS IN A LARGE, GENETICALLY INFORMATIVE SAMPLE.

    PubMed

    Mitchem, Dorian G; Zietsch, Brendan P; Wright, Margaret J; Martin, Nicholas G; Hewitt, John K; Keller, Matthew C

    2015-05-01

    Theories in both evolutionary and social psychology suggest that a positive correlation should exist between facial attractiveness and general intelligence, and several empirical observations appear to corroborate this expectation. Using highly reliable measures of facial attractiveness and IQ in a large sample of identical and fraternal twins and their siblings, we found no evidence for a phenotypic correlation between these traits. Likewise, neither the genetic nor the environmental latent factor correlations were statistically significant. We supplemented our analyses of new data with a simple meta-analysis that found evidence of publication bias among past studies of the relationship between facial attractiveness and intelligence. In view of these results, we suggest that previously published reports may have overestimated the strength of the relationship and that the theoretical bases for the predicted attractiveness-intelligence correlation may need to be reconsidered.

  11. Fast detection of genetic information by an optimized PCR in an interchangeable chip.

    PubMed

    Wu, Jinbo; Kodzius, Rimantas; Xiao, Kang; Qin, Jianhua; Wen, Weijia

    2012-02-01

    In this paper, we report the construction of a polymerase chain reaction (PCR) device for fast amplification and detection of DNA. This device consists of an interchangeable PCR chamber, a temperature control component as well as an optical detection system. The DNA amplification happens on an interchangeable chip with the volumes as low as 1.25 μl, while the heating and cooling rate was as fast as 12.7°C/second ensuring that the total time needed of only 25 min to complete the 35 cycle PCR amplification. An optimized PCR with two-temperature approach for denaturing and annealing (Td and Ta) of DNA was also formulated with the PCR chip, with which the amplification of male-specific sex determining region Y (SRY) gene marker by utilizing raw saliva was successfully achieved and the genetic identification was in-situ detected right after PCR by the optical detection system.

  12. NO RELATIONSHIP BETWEEN INTELLIGENCE AND FACIAL ATTRACTIVENESS IN A LARGE, GENETICALLY INFORMATIVE SAMPLE

    PubMed Central

    Mitchem, Dorian G.; Zietsch, Brendan P.; Wright, Margaret J.; Martin, Nicholas G.; Hewitt, John K.; Keller, Matthew C.

    2015-01-01

    Theories in both evolutionary and social psychology suggest that a positive correlation should exist between facial attractiveness and general intelligence, and several empirical observations appear to corroborate this expectation. Using highly reliable measures of facial attractiveness and IQ in a large sample of identical and fraternal twins and their siblings, we found no evidence for a phenotypic correlation between these traits. Likewise, neither the genetic nor the environmental latent factor correlations were statistically significant. We supplemented our analyses of new data with a simple meta-analysis that found evidence of publication bias among past studies of the relationship between facial attractiveness and intelligence. In view of these results, we suggest that previously published reports may have overestimated the strength of the relationship and that the theoretical bases for the predicted attractiveness-intelligence correlation may need to be reconsidered. PMID:25937789

  13. Information theoretical methods to deconvolute genetic regulatory networks applied to thyroid neoplasms

    NASA Astrophysics Data System (ADS)

    Hernández-Lemus, Enrique; Velázquez-Fernández, David; Estrada-Gil, Jesús K.; Silva-Zolezzi, Irma; Herrera-Hernández, Miguel F.; Jiménez-Sánchez, Gerardo

    2009-12-01

    Most common pathologies in humans are not caused by the mutation of a single gene, rather they are complex diseases that arise due to the dynamic interaction of many genes and environmental factors. This plethora of interacting genes generates a complexity landscape that masks the real effects associated with the disease. To construct dynamic maps of gene interactions (also called genetic regulatory networks) we need to understand the interplay between thousands of genes. Several issues arise in the analysis of experimental data related to gene function: on the one hand, the nature of measurement processes generates highly noisy signals; on the other hand, there are far more variables involved (number of genes and interactions among them) than experimental samples. Another source of complexity is the highly nonlinear character of the underlying biochemical dynamics. To overcome some of these limitations, we generated an optimized method based on the implementation of a Maximum Entropy Formalism (MaxEnt) to deconvolute a genetic regulatory network based on the most probable meta-distribution of gene-gene interactions. We tested the methodology using experimental data for Papillary Thyroid Cancer (PTC) and Thyroid Goiter tissue samples. The optimal MaxEnt regulatory network was obtained from a pool of 25,593,993 different probability distributions. The group of observed interactions was validated by several (mostly in silico) means and sources. For the associated Papillary Thyroid Cancer Gene Regulatory Network (PTC-GRN) the majority of the nodes (genes) have very few links (interactions) whereas a small number of nodes are highly connected. PTC-GRN is also characterized by high clustering coefficients and network heterogeneity. These properties have been recognized as characteristic of topological robustness, and they have been largely described in relation to biological networks. A number of biological validity outcomes are discussed with regard to both the

  14. What Is Genetic Ancestry Testing?

    MedlinePlus

    ... Testing What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, ... mixed with other groups. For more information about genetic ancestry testing: The University of Utah provides video ...

  15. How Is Genetic Testing Done?

    MedlinePlus

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors ...

  16. Research Libraries and the Dissemination of Information in Genetic Engineering and Biotechnology.

    ERIC Educational Resources Information Center

    Lucker, Jay K.

    1985-01-01

    Research libraries play essential role in the dissemination of both bibliographic and numerical information, including acquisition, processing, cataloging, retrieval, and document delivery. Most functions have been affected dramatically by application of the computer and library services at Massachusetts Institute of Technology that have evolved…

  17. University Students' Knowledge Structures and Informal Reasoning on the Use of Genetically Modified Foods: Multidimensional Analyses

    NASA Astrophysics Data System (ADS)

    Wu, Ying-Tien

    2012-12-01

    This study aims to provide insights into the role of learners' knowledge structures about a socio-scientific issue (SSI) in their informal reasoning on the issue. A total of 42 non-science major university students' knowledge structures and informal reasoning were assessed with multidimensional analyses. With both qualitative and quantitative analyses, this study revealed that those students with more extended and better-organized knowledge structures, as well as those who more frequently used higher-order information processing modes, were more oriented towards achieving a higher-level informal reasoning quality. The regression analyses further showed that the "richness" of the students' knowledge structures explained 25 % of the variation in their rebuttal construction, an important indicator of reasoning quality, indicating the significance of the role of students' sophisticated knowledge structure in SSI reasoning. Besides, this study also provides some initial evidence for the significant role of the "core" concept within one's knowledge structure in one's SSI reasoning. The findings in this study suggest that, in SSI-based instruction, science instructors should try to identify students' core concepts within their prior knowledge regarding the SSI, and then they should try to guide students to construct and structure relevant concepts or ideas regarding the SSI based on their core concepts. Thus, students could obtain extended and well-organized knowledge structures, which would then help them achieve better learning transfer in dealing with SSIs.

  18. Information Entropy Analysis of the H1N1 Genetic Code

    NASA Astrophysics Data System (ADS)

    Martwick, Andy

    2010-03-01

    During the current H1N1 pandemic, viral samples are being obtained from large numbers of infected people world-wide and are being sequenced on the NCBI Influenza Virus Resource Database. The information entropy of the sequences was computed from the probability of occurrence of each nucleotide base at every position of each set of sequences using Shannon's definition of information entropy, [ H=∑bpb,2( 1pb ) ] where H is the observed information entropy at each nucleotide position and pb is the probability of the base pair of the nucleotides A, C, G, U. Information entropy of the current H1N1 pandemic is compared to reference human and swine H1N1 entropy. As expected, the current H1N1 entropy is in a low entropy state and has a very large mutation potential. Using the entropy method in mature genes we can identify low entropy regions of nucleotides that generally correlate to critical protein function.

  19. Quantifying Phenotypic Plasticity Using Genetic Information for Simulating Plant Height in Winter Wheat

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A challenge for crop simulation modeling is to incorporate existing and rapidly emerging genomic information into models to develop new and improved algorithms. The objective of this effort was to simulate plant height in winter wheat (Triticum aestivum L.) across a range of environments in Nebraska...

  20. BIOACCESSIBILITY TESTS ACCURATELY ESTIMATE ...

    EPA Pesticide Factsheets

    Hazards of soil-borne Pb to wild birds may be more accurately quantified if the bioavailability of that Pb is known. To better understand the bioavailability of Pb to birds, we measured blood Pb concentrations in Japanese quail (Coturnix japonica) fed diets containing Pb-contaminated soils. Relative bioavailabilities were expressed by comparison with blood Pb concentrations in quail fed a Pb acetate reference diet. Diets containing soil from five Pb-contaminated Superfund sites had relative bioavailabilities from 33%-63%, with a mean of about 50%. Treatment of two of the soils with P significantly reduced the bioavailability of Pb. The bioaccessibility of the Pb in the test soils was then measured in six in vitro tests and regressed on bioavailability. They were: the “Relative Bioavailability Leaching Procedure” (RBALP) at pH 1.5, the same test conducted at pH 2.5, the “Ohio State University In vitro Gastrointestinal” method (OSU IVG), the “Urban Soil Bioaccessible Lead Test”, the modified “Physiologically Based Extraction Test” and the “Waterfowl Physiologically Based Extraction Test.” All regressions had positive slopes. Based on criteria of slope and coefficient of determination, the RBALP pH 2.5 and OSU IVG tests performed very well. Speciation by X-ray absorption spectroscopy demonstrated that, on average, most of the Pb in the sampled soils was sorbed to minerals (30%), bound to organic matter 24%, or present as Pb sulfate 18%. Ad

  1. The genetics of dilated cardiomyopathy

    PubMed Central

    Dellefave, Lisa; McNally, Elizabeth M.

    2010-01-01

    Purpose of review More than forty different individual genes have been implicated in the inheritance of dilated cardiomyopathy. For a subset of these genes, mutations can lead to a spectrum of cardiomyopathy that extends to hypertrophic cardiomyopathy and left ventricular noncompaction. In nearly all cases, there is an increased risk of arrhythmias. With some genetic mutations, extracardiac manifestations are likely to be present. The precise genetic etiology can usually not be discerned from the cardiac and/or extracardiac manifestations and requires molecular genetic diagnosis for prognostic determination and cardiac care. Recent findings Newer technologies are influencing genetic testing, especially cardiomyopathy genetic testing, where an increased number of genes are now routinely being tested simultaneously. While this approach to testing multiple genes is increasing the diagnostic yield, the analysis of multiple genes in one test is also resulting in a large amount of genetic information of unclear significance. Summary Genetic testing is highly useful in the care of patients and families, since it guides diagnosis, influences care and aids in prognosis. However, the large amount of benign human genetic variation may complicate genetic results, and often requires a skilled team to accurately interpret the findings. PMID:20186049

  2. Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases

    PubMed Central

    Haan, Claude; Behrmann, Iris; Haan, Serge

    2010-01-01

    Abstract Gain-of-function mutations in the genes encoding Janus kinases have been discovered in various haematologic diseases. Jaks are composed of a FERM domain, an SH2 domain, a pseudokinase domain and a kinase domain, and a complex interplay of the Jak domains is involved in regulation of catalytic activity and association to cytokine receptors. Most activating mutations are found in the pseudokinase domain. Here we present recently discovered mutations in the context of our structural models of the respective domains. We describe two structural hotspots in the pseudokinase domain of Jak2 that seem to be associated either to myeloproliferation or to lymphoblastic leukaemia, pointing at the involvement of distinct signalling complexes in these disease settings. The different domains of Jaks are discussed as potential drug targets. We present currently available inhibitors targeting Jaks and indicate structural differences in the kinase domains of the different Jaks that may be exploited in the development of specific inhibitors. Moreover, we discuss recent chemical genetic approaches which can be applied to Jaks to better understand the role of these kinases in their biological settings and as drug targets. PMID:20132407

  3. Hot topic: a unified approach to utilize phenotypic, full pedigree, and genomic information for genetic evaluation of Holstein final score.

    PubMed

    Aguilar, I; Misztal, I; Johnson, D L; Legarra, A; Tsuruta, S; Lawlor, T J

    2010-02-01

    The first national single-step, full-information (phenotype, pedigree, and marker genotype) genetic evaluation was developed for final score of US Holsteins. Data included final scores recorded from 1955 to 2009 for 6,232,548 Holsteins cows. BovineSNP50 (Illumina, San Diego, CA) genotypes from the Cooperative Dairy DNA Repository (Beltsville, MD) were available for 6,508 bulls. Three analyses used a repeatability animal model as currently used for the national US evaluation. The first 2 analyses used final scores recorded up to 2004. The first analysis used only a pedigree-based relationship matrix. The second analysis used a relationship matrix based on both pedigree and genomic information (single-step approach). The third analysis used the complete data set and only the pedigree-based relationship matrix. The fourth analysis used predictions from the first analysis (final scores up to 2004 and only a pedigree-based relationship matrix) and prediction using a genomic based matrix to obtain genetic evaluation (multiple-step approach). Different allele frequencies were tested in construction of the genomic relationship matrix. Coefficients of determination between predictions of young bulls from parent average, single-step, and multiple-step approaches and their 2009 daughter deviations were 0.24, 0.37 to 0.41, and 0.40, respectively. The highest coefficient of determination for a single-step approach was observed when using a genomic relationship matrix with assumed allele frequencies of 0.5. Coefficients for regression of 2009 daughter deviations on parent-average, single-step, and multiple-step predictions were 0.76, 0.68 to 0.79, and 0.86, respectively, which indicated some inflation of predictions. The single-step regression coefficient could be increased up to 0.92 by scaling differences between the genomic and pedigree-based relationship matrices with little loss in accuracy of prediction. One complete evaluation took about 2h of computing time and 2

  4. Optimizing information flow in small genetic networks. III. A self-interacting gene.

    PubMed

    Tkačik, Gašper; Walczak, Aleksandra M; Bialek, William

    2012-04-01

    Living cells must control the reading out or "expression" of information encoded in their genomes, and this regulation often is mediated by transcription factors--proteins that bind to DNA and either enhance or repress the expression of nearby genes. But the expression of transcription factor proteins is itself regulated, and many transcription factors regulate their own expression in addition to responding to other input signals. Here we analyze the simplest of such self-regulatory circuits, asking how parameters can be chosen to optimize information transmission from inputs to outputs in the steady state. Some nonzero level of self-regulation is almost always optimal, with self-activation dominant when transcription factor concentrations are low and self-repression dominant when concentrations are high. In steady state the optimal self-activation is never strong enough to induce bistability, although there is a limit in which the optimal parameters are very close to the critical point.

  5. Accurate spectral color measurements

    NASA Astrophysics Data System (ADS)

    Hiltunen, Jouni; Jaeaeskelaeinen, Timo; Parkkinen, Jussi P. S.

    1999-08-01

    Surface color measurement is of importance in a very wide range of industrial applications including paint, paper, printing, photography, textiles, plastics and so on. For a demanding color measurements spectral approach is often needed. One can measure a color spectrum with a spectrophotometer using calibrated standard samples as a reference. Because it is impossible to define absolute color values of a sample, we always work with approximations. The human eye can perceive color difference as small as 0.5 CIELAB units and thus distinguish millions of colors. This 0.5 unit difference should be a goal for the precise color measurements. This limit is not a problem if we only want to measure the color difference of two samples, but if we want to know in a same time exact color coordinate values accuracy problems arise. The values of two instruments can be astonishingly different. The accuracy of the instrument used in color measurement may depend on various errors such as photometric non-linearity, wavelength error, integrating sphere dark level error, integrating sphere error in both specular included and specular excluded modes. Thus the correction formulas should be used to get more accurate results. Another question is how many channels i.e. wavelengths we are using to measure a spectrum. It is obvious that the sampling interval should be short to get more precise results. Furthermore, the result we get is always compromise of measuring time, conditions and cost. Sometimes we have to use portable syste or the shape and the size of samples makes it impossible to use sensitive equipment. In this study a small set of calibrated color tiles measured with the Perkin Elmer Lamda 18 and the Minolta CM-2002 spectrophotometers are compared. In the paper we explain the typical error sources of spectral color measurements, and show which are the accuracy demands a good colorimeter should have.

  6. Simultaneous learning of instantaneous and time-delayed genetic interactions using novel information theoretic scoring technique

    PubMed Central

    2012-01-01

    Background Understanding gene interactions is a fundamental question in systems biology. Currently, modeling of gene regulations using the Bayesian Network (BN) formalism assumes that genes interact either instantaneously or with a certain amount of time delay. However in reality, biological regulations, both instantaneous and time-delayed, occur simultaneously. A framework that can detect and model both these two types of interactions simultaneously would represent gene regulatory networks more accurately. Results In this paper, we introduce a framework based on the Bayesian Network (BN) formalism that can represent both instantaneous and time-delayed interactions between genes simultaneously. A novel scoring metric having firm mathematical underpinnings is also proposed that, unlike other recent methods, can score both interactions concurrently and takes into account the reality that multiple regulators can regulate a gene jointly, rather than in an isolated pair-wise manner. Further, a gene regulatory network (GRN) inference method employing an evolutionary search that makes use of the framework and the scoring metric is also presented. Conclusion By taking into consideration the biological fact that both instantaneous and time-delayed regulations can occur among genes, our approach models gene interactions with greater accuracy. The proposed framework is efficient and can be used to infer gene networks having multiple orders of instantaneous and time-delayed regulations simultaneously. Experiments are carried out using three different synthetic networks (with three different mechanisms for generating synthetic data) as well as real life networks of Saccharomyces cerevisiae, E. coli and cyanobacteria gene expression data. The results show the effectiveness of our approach. PMID:22691450

  7. Efficient Direct Extended-Spectrum β-Lactamase Detection by Multiplex Real-Time PCR: Accurate Assignment of Phenotype by Use of a Limited Set of Genetic Markers ▿

    PubMed Central

    Ellem, Justin; Partridge, Sally R.; Iredell, Jonathan R.

    2011-01-01

    The number and diversity of genes potentially complicate genetic approaches to the rapid detection of transmissible extended-spectrum β-lactamase genes. We developed a robust multiplexed real-time PCR assay based on targets identified in a prior survey and used this to detect relevant genes in 617 consecutive clinical isolates of extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae. PMID:21613435

  8. On the local optimal solutions of metabolic regulatory networks using information guided genetic algorithm approach and clustering analysis.

    PubMed

    Zheng, Ying; Yeh, Chen-Wei; Yang, Chi-Da; Jang, Shi-Shang; Chu, I-Ming

    2007-08-31

    Biological information generated by high-throughput technology has made systems approach feasible for many biological problems. By this approach, optimization of metabolic pathway has been successfully applied in the amino acid production. However, in this technique, gene modifications of metabolic control architecture as well as enzyme expression levels are coupled and result in a mixed integer nonlinear programming problem. Furthermore, the stoichiometric complexity of metabolic pathway, along with strong nonlinear behaviour of the regulatory kinetic models, directs a highly rugged contour in the whole optimization problem. There may exist local optimal solutions wherein the same level of production through different flux distributions compared with global optimum. The purpose of this work is to develop a novel stochastic optimization approach-information guided genetic algorithm (IGA) to discover the local optima with different levels of modification of the regulatory loop and production rates. The novelties of this work include the information theory, local search, and clustering analysis to discover the local optima which have physical meaning among the qualified solutions.

  9. Ultra-broadband Reflective Metamaterial with RCS Reduction based on Polarization Convertor, Information Entropy Theory and Genetic Optimization Algorithm

    NASA Astrophysics Data System (ADS)

    Li, Si Jia; Cao, Xiang Yu; Xu, Li Ming; Zhou, Long Jian; Yang, Huan Huan; Han, Jiang Feng; Zhang, Zhao; Zhang, Di; Liu, Xiao; Zhang, Chen; Zheng, Yue Jun; Zhao, Yi

    2016-11-01

    We proposed an ultra-broadband reflective metamaterial with controlling the scattering electromagnetic fields based on a polarization convertor. The unit cell of the polarization convertor was composed of a three layers substrate with double metallic split-rings structure and a metal ground plane. The proposed polarization convertor and that with rotation angle of 90 deg had been employed as the “0” and “1” elements to design the digital reflective metamaterial. The numbers of the “0” and “1” elements were chosen based on the information entropy theory. Then, the optimized combinational format was selected by genetic optimization algorithm. The scattering electromagnetic fields had been manipulated due to destructive interference, which was attributed to the control of phase and amplitude by the proposed polarization convertor. Simulated and experimental results indicated that the reflective metamaterial exhibited significantly RCS reduction in an ultra-broad frequency band for both normal and oblique incidences.

  10. Ultra-broadband Reflective Metamaterial with RCS Reduction based on Polarization Convertor, Information Entropy Theory and Genetic Optimization Algorithm.

    PubMed

    Li, Si Jia; Cao, Xiang Yu; Xu, Li Ming; Zhou, Long Jian; Yang, Huan Huan; Han, Jiang Feng; Zhang, Zhao; Zhang, Di; Liu, Xiao; Zhang, Chen; Zheng, Yue Jun; Zhao, Yi

    2016-11-22

    We proposed an ultra-broadband reflective metamaterial with controlling the scattering electromagnetic fields based on a polarization convertor. The unit cell of the polarization convertor was composed of a three layers substrate with double metallic split-rings structure and a metal ground plane. The proposed polarization convertor and that with rotation angle of 90 deg had been employed as the "0" and "1" elements to design the digital reflective metamaterial. The numbers of the "0" and "1" elements were chosen based on the information entropy theory. Then, the optimized combinational format was selected by genetic optimization algorithm. The scattering electromagnetic fields had been manipulated due to destructive interference, which was attributed to the control of phase and amplitude by the proposed polarization convertor. Simulated and experimental results indicated that the reflective metamaterial exhibited significantly RCS reduction in an ultra-broad frequency band for both normal and oblique incidences.

  11. Ultra-broadband Reflective Metamaterial with RCS Reduction based on Polarization Convertor, Information Entropy Theory and Genetic Optimization Algorithm

    PubMed Central

    Li, Si Jia; Cao, Xiang Yu; Xu, Li Ming; Zhou, Long Jian; Yang, Huan Huan; Han, Jiang Feng; Zhang, Zhao; Zhang, Di; Liu, Xiao; Zhang, Chen; Zheng, Yue Jun; Zhao, Yi

    2016-01-01

    We proposed an ultra-broadband reflective metamaterial with controlling the scattering electromagnetic fields based on a polarization convertor. The unit cell of the polarization convertor was composed of a three layers substrate with double metallic split-rings structure and a metal ground plane. The proposed polarization convertor and that with rotation angle of 90 deg had been employed as the “0” and “1” elements to design the digital reflective metamaterial. The numbers of the “0” and “1” elements were chosen based on the information entropy theory. Then, the optimized combinational format was selected by genetic optimization algorithm. The scattering electromagnetic fields had been manipulated due to destructive interference, which was attributed to the control of phase and amplitude by the proposed polarization convertor. Simulated and experimental results indicated that the reflective metamaterial exhibited significantly RCS reduction in an ultra-broad frequency band for both normal and oblique incidences. PMID:27874082

  12. Genetic identification of horse mackerel and related species in seafood products by means of forensically informative nucleotide sequencing methodology.

    PubMed

    Lago, Fátima C; Herrero, Beatriz; Vieites, Juan M; Espiñeira, Montserrat

    2011-03-23

    In the present study, a methodology based on the amplification of a fragment of mitochondrial cytochrome b and subsequent phylogenetic analysis (FINS: forensically informative nucleotide sequencing) to genetically identify horse mackerels have been developed. This methodology makes possible the identification of more than 20 species belonging to the families Carangidae, Mullidae, and Scombridae. The main novelty of this work lies in the longest number of different horse mackerel species included and in the applicability of the developed methods to all kinds of processed products that can be found by consumers in markets around the world, including those that have undergone intensive processes of transformation, as for instance canned foods. Finally, the methods were applied to 15 commercial samples, all of them canned products. Therefore, these methods are useful for checking the fulfillment of labeling regulations for horse mackerels and horse mackerel products, verifying the correct traceability in commercial trade, and fisheries control.

  13. Reproductive decisions after fetal genetic counselling.

    PubMed

    Pergament, Eugene; Pergament, Deborah

    2012-10-01

    A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and after fetal genetic counselling represent the culmination of a dynamic interaction between prospective parents, obstetrician and genetic counsellor. The decision to undergo genetic testing before and after genetic counselling is influenced by a host of interrelated factors, including patient-partner and family relationships, patient-physician communication, societal mores, religious beliefs, and the media. Because of the complexity of personal and societal factors involved, it is not surprising that genetic counselling concerning reproductive decision-making must be individualised. A limited number of principles, guidelines and standards apply when counselling about testing for fetal genetic disease. These principles are that genetic counselling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice. A critical responsibility of the obstetrician and genetic counsellor is to provide accurate and objective information about the implications, advantages, disadvantages and consequences of any genetic testing applied to prospective parents and their fetuses. These principles and responsibilities will be tested as newer technologies, such as array comparative genome hybridisation, non-invasive prenatal diagnosis and sequencing of the entire genome are introduced into the field of reproductive genetics and become routine practice.

  14. Analysis of the genetic information of a DNA segment of a new virus from silkworm.

    PubMed

    Bando, H; Hayakawa, T; Asano, S; Sahara, K; Nakagaki, M; Iizuka, T

    1995-01-01

    In 1983, a parvo-like virus (Yamanashi isolate) was newly isolated from silkworm. However, unlike parvovirus, two DNA molecules (VD1 and 2) were always extracted from purified virions. To investigate the structure and organization of the virus genomes, we determined the complete nucleotide sequence of VD2. The sequence consisted of 6031 nucleotides (nts) and contained a large open reading frame (ORF1) with 3513 nts. A smaller open reading frame (ORF2) with 702 nts was found in the complementary sequence. Computer analysis revealed that both ORFs did not code for the major structural proteins (VP1, 2, 3, and 4). These results suggest that VD2 has not enough information to produce progeny virions by itself. Further, the structural importance of the terminal sequence (CTS) common to both VD1 and VD2 was also predicted by a computer analysis.

  15. What Are the Types of Genetic Tests?

    MedlinePlus

    ... of genetic tests? What are the types of genetic tests? Genetic testing can provide information about a ... paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which ...

  16. Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation

    PubMed Central

    Raj, Towfique; McGeachie, Michael J.; Qiu, Weiliang; Ziniti, John P.; Stubbs, Benjamin J.; Liang, Liming; Martinez, Fernando D.; Strunk, Robert C.; Lemanske, Robert F.; Liu, Andrew H.; Stranger, Barbara E.; Carey, Vincent J.; Raby, Benjamin A.

    2015-01-01

    Disease-associated loci identified through genome-wide association studies (GWAS) frequently localize to non-coding sequence. We and others have demonstrated strong enrichment of such single nucleotide polymorphisms (SNPs) for expression quantitative trait loci (eQTLs), supporting an important role for regulatory genetic variation in complex disease pathogenesis. Herein we describe our initial efforts to develop a predictive model of disease-associated variants leveraging eQTL information. We first catalogued cis-acting eQTLs (SNPs within 100kb of target gene transcripts) by meta-analyzing four studies of three blood-derived tissues (n = 586). At a false discovery rate < 5%, we mapped eQTLs for 6,535 genes; these were enriched for disease-associated genes (P < 10−04), particularly those related to immune diseases and metabolic traits. Based on eQTL information and other variant annotations (distance from target gene transcript, minor allele frequency, and chromatin state), we created multivariate logistic regression models to predict SNP membership in reported GWAS. The complete model revealed independent contributions of specific annotations as strong predictors, including evidence for an eQTL (odds ratio (OR) = 1.2–2.0, P < 10−11) and the chromatin states of active promoters, different classes of strong or weak enhancers, or transcriptionally active regions (OR = 1.5–2.3, P < 10−11). This complete prediction model including eQTL association information ultimately allowed for better discrimination of SNPs with higher probabilities of GWAS membership (6.3–10.0%, compared to 3.5% for a random SNP) than the other two models excluding eQTL information. This eQTL-based prediction model of disease relevance can help systematically prioritize non-coding GWAS SNPs for further functional characterization. PMID:26474488

  17. The effect of genetic test-based risk information on behavioral outcomes: A critical examination of failed trials and a call to action.

    PubMed

    Austin, Jehannine

    2015-12-01

    Encouraging individuals at risk for common complex disease like heart disease, cancer, and diabetes to adopt lifestyle changes (e.g., smoking cessation, exercise, proper nutrition, increased screening) could be powerful public health tools to decrease the enormous personal and economic burden of these conditions. Theoretically, genetic risk information appears to be a compelling tool that could be used to provoke at-risk individuals to adopt these lifestyle changes. Unfortunately, however, numerous studies now have shown that providing individuals with genetic test-based risk information has little to no impact on their behavior. In this article (a commentary not a systematic review), the failed trials in which genetic information has been used as a tool to induce behavior change will be critically examined in order to identify new and potentially more effective ways forward.

  18. Genetic variation and population structure in a threatened species, the Utah prairie dog Cynomys parvidens: the use of genetic data to inform conservation actions.

    PubMed

    Brown, Nathanael L; Peacock, Mary M; Ritchie, Mark E

    2016-01-01

    The Utah prairie dog (Cynomys parvidens), listed as threatened under the United States Endangered Species Act, was the subject of an extensive eradication program throughout its range during the 20th century. Eradication campaigns, habitat destruction/fragmentation/conversion, and epizootic outbreaks (e.g., sylvatic plague) have reduced prairie dog numbers from an estimated 95,000 individuals in the 1920s to approximately 14,000 (estimated adult spring count) today. As a result of these anthropogenic actions, the species is now found in small isolated sets of subpopulations. We characterized the levels of genetic diversity and population genetic structure using 10 neutral nuclear microsatellite loci for twelve populations (native and transplanted) representative of the three management designated "recovery units," found in three distinct biogeographic regions, sampled across the species' range. The results indicate (1) low levels of genetic diversity within colonies (H e = 0.109-0.357; H o = 0.106- 0.313), (2) high levels of genetic differentiation among colonies (global F ST = 0.296), (3) very small genetic effective population sizes, and (4) evidence of genetic bottlenecks. The genetic data reveal additional subdivision such that colonies within recovery units do not form single genotype clusters consistent with recovery unit boundaries. Genotype cluster membership support historical gene flow among colonies in the easternmost West Desert Recovery Unit with the westernmost Pausaugunt colonies and among the eastern Pausaugunt colonies and the Awapa Recovery unit to the north. In order to maintain the long-term viability of the species, there needs to be an increased focus on maintaining suitable habitat between groups of existing populations that can act as connective corridors. The location of future translocation sites should be located in areas that will maximize connectivity, leading to maintenance of genetic variation and evolutionary potential.

  19. Inconsistencies in pedigree symbols in human genetics publications: A need for standardization

    SciTech Connect

    Steinhaus, K.A.; Bennett, R.L.; Resta, R.G.

    1995-04-10

    To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree`s basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations. 5 refs., 11 figs., 2 tabs.

  20. Race, Genetics and Medicine: New Information, Enduring Questions: Final Report on Conference held on April 9, 2005 and its Sequelae

    SciTech Connect

    Beckwith, Jonathan R.

    2008-08-20

    The Conference, “Race, Genetics and Medicine: New Information, Enduring Questions,” was held on Saturday, April 9, 2005 in the Science Center, Lecture Hall D at Harvard University, Cambridge, MA. Approximately 150 people attended. The audience was composed mainly of college and graduate school science students and postdoctoral fellows, some science and medical school faculty, science teachers at various levels, journalists and interested members of the public. The keynote speaker and the panelists reflected different academic disciplines (genetics, medicine, anthropology, sociology) and a CEO of a biotechnology company with background in medicine and law. They also presented different perspectives on the utility of race concepts in medicine and even on the use of the word “race.” While the talks often involved descriptions of genetic approaches that were not simple to explain, the speakers did an effective job of getting across the gist of studies that have been carried out on these issues. Although no consensus was reached, the conference gave the audience the opportunity to understand the issues and to have the tools to follow the debates in the future. Our strongest feedback was from attendees who had heard of the race and genetics issues through various media, but did not have a sense of what they were really about. They reported to us that they now felt they understood the basis of these discussions. Our post-conference activities have been successfully completed. While we had proposed to make available transcripts of the talks to the public through a Website, some of the speakers would not agree to have their presentations available in this way. Therefore, we asked permission from the DOE to use the funds to prepare classroom lesson plans for high school students to discuss the issues. These were prepared over a year-long period by the Genetic Screening Study Group Members with an educator, Ms. Ronnee Yashon, who teaches at Tufts University and who

  1. A Prediction Algorithm for Drug Response in Patients with Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information

    PubMed Central

    Carvalho, Benilton S.; Bilevicius, Elizabeth; Alvim, Marina K. M.; Lopes-Cendes, Iscia

    2017-01-01

    Mesial temporal lobe epilepsy is the most common form of adult epilepsy in surgical series. Currently, the only characteristic used to predict poor response to clinical treatment in this syndrome is the presence of hippocampal sclerosis. Single nucleotide polymorphisms (SNPs) located in genes encoding drug transporter and metabolism proteins could influence response to therapy. Therefore, we aimed to evaluate whether combining information from clinical variables as well as SNPs in candidate genes could improve the accuracy of predicting response to drug therapy in patients with mesial temporal lobe epilepsy. For this, we divided 237 patients into two groups: 75 responsive and 162 refractory to antiepileptic drug therapy. We genotyped 119 SNPs in ABCB1, ABCC2, CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, and CYP3A5 genes. We used 98 additional SNPs to evaluate population stratification. We assessed a first scenario using only clinical variables and a second one including SNP information. The random forests algorithm combined with leave-one-out cross-validation was used to identify the best predictive model in each scenario and compared their accuracies using the area under the curve statistic. Additionally, we built a variable importance plot to present the set of most relevant predictors on the best model. The selected best model included the presence of hippocampal sclerosis and 56 SNPs. Furthermore, including SNPs in the model improved accuracy from 0.4568 to 0.8177. Our findings suggest that adding genetic information provided by SNPs, located on drug transport and metabolism genes, can improve the accuracy for predicting which patients with mesial temporal lobe epilepsy are likely to be refractory to drug treatment, making it possible to identify patients who may benefit from epilepsy surgery sooner. PMID:28052106

  2. Modifications to the HIPAA Privacy, Security, Enforcement, and Breach Notification rules under the Health Information Technology for Economic and Clinical Health Act and the Genetic Information Nondiscrimination Act; other modifications to the HIPAA rules.

    PubMed

    2013-01-25

    The Department of Health and Human Services (HHS or ``the Department'') is issuing this final rule to: Modify the Health Insurance Portability and Accountability Act (HIPAA) Privacy, Security, and Enforcement Rules to implement statutory amendments under the Health Information Technology for Economic and Clinical Health Act (``the HITECH Act'' or ``the Act'') to strengthen the privacy and security protection for individuals' health information; modify the rule for Breach Notification for Unsecured Protected Health Information (Breach Notification Rule) under the HITECH Act to address public comment received on the interim final rule; modify the HIPAA Privacy Rule to strengthen the privacy protections for genetic information by implementing section 105 of Title I of the Genetic Information Nondiscrimination Act of 2008 (GINA); and make certain other modifications to the HIPAA Privacy, Security, Breach Notification, and Enforcement Rules (the HIPAA Rules) to improve their workability and effectiveness and to increase flexibility for and decrease burden on the regulated entities.

  3. Genetics Home Reference: monilethrix

    MedlinePlus

    ... Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Beaded hair General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation ...

  4. Genetics Home Reference

    MedlinePlus

    ... MENU Toggle navigation Home Page Search Share: Email Facebook Twitter Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Genetics Home Reference provides consumer-friendly information about the effects of genetic variation ...

  5. Direct-to-consumer genetic testing: perceptions, problems, and policy responses.

    PubMed

    Caulfield, Timothy; McGuire, Amy L

    2012-01-01

    Direct-to-consumer (DTC) genetic testing has attracted a great amount of attention from policy makers, the scientific community, professional groups, and the media. Although it is unclear what the public demand is for these services, there does appear to be public interest in personal genetic risk information. As a result, many commentators have raised a variety of social, ethical, and regulatory issues associated with this emerging industry, including privacy issues, ensuring that DTC companies provide accurate information about the risks and limitations of their services, the possible adverse impact of DTC genetic testing on healthcare systems, and concern about how individuals may interpret and react to genetic risk information.

  6. Genetic barcodes

    DOEpatents

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  7. Investigation of the Ethical Concepts that Inform the Laws Limiting Genetic Screening in Employment Decisions: Privacy, Human Dignity, Equality, Autonomy, Efficiency

    SciTech Connect

    Pasquerella, Lynn; Rothstein, Lawrence E.

    2003-01-16

    The broad question addressed in our research is : What is the influence of ethical concepts on legislative outcomes? The research focuses on the important ethical concerns that surround the use of genetic information in employment matters and in American state legislatures. By analyzing the contents of hearings, interviews and advocacy documents involved in the legislative process, the research seeks to answer the question: How might the dominance of a particular ethical concept informing the discussion of a bill influence the legislative outcome?

  8. [How to plan and execute multinational clinical studies properly-management of ethnic differences, private information, and genetic testing].

    PubMed

    Iwasaki, Masaru

    2010-05-01

    The need for multinational clinical studies in the oncology field has grown stronger not only for the purpose of registration but also the creation of scientific evidence for proper use of anti-cancer agents. Now almost all clinical study has been planned and executed under international collaboration, including Japan. Multinational study has several advantages to enhance faster accrual from more sites for patients with common malignancies and even with rare tumors, to provide scientific data for the approvals of participating countries, and to deliver meaningful information to medical sites in a broader range at reasonable cost. On the other hand, because of the close relationship between genetic variance and cancer occurrence, each region, US, EU, and Asia/Japan, has been showing differences in the prevalence of cancer, its management, and consequently the drug responses, both in terms of efficacy and safety. This phenomenon has been more commonly observed in clinical studies of recent molecular targeting agents. From the study management viewpoint, the regulations in each region may differ to some extent, although efforts of harmonization has been initiated. Therefore, at the study planning stage, the ethnic or regional differences and those in regulations should be taken into consideration in the preparation of study protocol, and several measures should be prepared and implemented for the smooth conduction of the study. It is also recommended that Japan be involved in the development activity at an earlier phase, so that appropriate alternatives, including Asian collaborative studies, could be considered when needed.

  9. DTC genetic testing: pendulum swings and policy paradoxes.

    PubMed

    Caulfield, T

    2012-01-01

    After decades of optimistic portrayals, there has been a shift in the way that the popular press represents genomic research. A skeptical view has become more common. The central reason for this pendulum swing away from popular support is the harsh truth that most genetic risk information just isn't that predictive. This reality has created a fascinating policy paradox. If, as many in the scientific community are now saying, genetic information is not the oracle of our future health as we were once led to believe, and if access does not, for most, cause harm, why regulate the area? Why worry about shoddy direct-to-consumer (DTC) genetic testing companies? One primary justification, and one endorsed by the recent Canadian College of Medical Geneticists (CCMG) Policy Statement on DTC Genetics Testing, is that information that is conveyed to the public about genetics via marketing and to those who access DTC tests should, at a minimum, be accurate.

  10. Strong genetic admixture in the Altai at the Middle Bronze Age revealed by uniparental and ancestry informative markers.

    PubMed

    Hollard, Clémence; Keyser, Christine; Giscard, Pierre-Henri; Tsagaan, Turbat; Bayarkhuu, Noost; Bemmann, Jan; Crubézy, Eric; Ludes, Bertrand

    2014-09-01

    The Altai Mountains have been a long-term boundary zone between the Eurasian Steppe populations and South and East Asian populations. To disentangle some of the historical population movements in this area, 14 ancient human specimens excavated in the westernmost part of the Mongolian Altai were studied. Thirteen of them were dated from the Middle to the End of the Bronze Age and one of them to the Eneolithic period. The environmental conditions encountered in this region led to the good preservation of DNA in the human remains. Therefore, a multi-markers approach was adopted for the genetic analysis of identity, ancestry and phenotype markers. Mitochondrial DNA analyses revealed that the ancient Altaians studied carried both Western (H, U, T) and Eastern (A, C, D) Eurasian lineages. In the same way, the patrilineal gene pool revealed the presence of different haplogroups (Q1a2a1-L54, R1a1a1b2-Z93 and C), probably marking different origins for the male paternal lineages. To go further in the search of the origin of these ancient specimens, phenotypical characters (i.e. hair and eye color) were determined. For this purpose, we adapted the HIrisPlex assay recently described to MALDI-TOF mass spectrometry. In addition, some ancestry informative markers were analyzed with this assay. The results revealed mixed phenotypes among this group confirming the probable admixed ancestry of the studied Altaian population at the Middle Bronze Age. The good results obtained from ancient DNA samples suggest that this approach might be relevant for forensic casework too.

  11. Accurate Evaluation of Quantum Integrals

    NASA Technical Reports Server (NTRS)

    Galant, D. C.; Goorvitch, D.; Witteborn, Fred C. (Technical Monitor)

    1995-01-01

    Combining an appropriate finite difference method with Richardson's extrapolation results in a simple, highly accurate numerical method for solving a Schrodinger's equation. Important results are that error estimates are provided, and that one can extrapolate expectation values rather than the wavefunctions to obtain highly accurate expectation values. We discuss the eigenvalues, the error growth in repeated Richardson's extrapolation, and show that the expectation values calculated on a crude mesh can be extrapolated to obtain expectation values of high accuracy.

  12. Practical implications for genetic modeling in the genomics era

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic models convert data into estimated breeding values and other information useful to breeders. The goal is to provide accurate and timely predictions of the future performance for each animal (or embryo). Modeling involves defining traits, editing raw data, removing environmental effects, incl...

  13. 78 FR 40541 - GDT Tek, Inc., Gemini Explorations, Inc., Genetic Vectors, Inc., and Global Gate Property Corp...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-05

    ... From the Federal Register Online via the Government Publishing Office SECURITIES AND EXCHANGE COMMISSION GDT Tek, Inc., Gemini Explorations, Inc., Genetic Vectors, Inc., and Global Gate Property Corp... accurate information concerning the securities of Genetic Vectors, Inc. because it has not filed...

  14. Frequently Asked Questions about Genetic Testing

    MedlinePlus

    ... sobre las pruebas genéticas Frequently Asked Questions About Genetic Testing What is genetic testing? What can I ... find more information about genetic testing? What is genetic testing? Genetic testing uses laboratory methods to look ...

  15. The high cost of accurate knowledge.

    PubMed

    Sutcliffe, Kathleen M; Weber, Klaus

    2003-05-01

    Many business thinkers believe it's the role of senior managers to scan the external environment to monitor contingencies and constraints, and to use that precise knowledge to modify the company's strategy and design. As these thinkers see it, managers need accurate and abundant information to carry out that role. According to that logic, it makes sense to invest heavily in systems for collecting and organizing competitive information. Another school of pundits contends that, since today's complex information often isn't precise anyway, it's not worth going overboard with such investments. In other words, it's not the accuracy and abundance of information that should matter most to top executives--rather, it's how that information is interpreted. After all, the role of senior managers isn't just to make decisions; it's to set direction and motivate others in the face of ambiguities and conflicting demands. Top executives must interpret information and communicate those interpretations--they must manage meaning more than they must manage information. So which of these competing views is the right one? Research conducted by academics Sutcliffe and Weber found that how accurate senior executives are about their competitive environments is indeed less important for strategy and corresponding organizational changes than the way in which they interpret information about their environments. Investments in shaping those interpretations, therefore, may create a more durable competitive advantage than investments in obtaining and organizing more information. And what kinds of interpretations are most closely linked with high performance? Their research suggests that high performers respond positively to opportunities, yet they aren't overconfident in their abilities to take advantage of those opportunities.

  16. Landscape genetics informs mesohabitat preference and conservation priorities for a surrogate indicator species in a highly fragmented river system.

    PubMed

    Lean, J; Hammer, M P; Unmack, P J; Adams, M; Beheregaray, L B

    2017-04-01

    Poor dispersal species represent conservative benchmarks for biodiversity management because they provide insights into ecological processes influenced by habitat fragmentation that are less evident in more dispersive organisms. Here we used the poorly dispersive and threatened river blackfish (Gadopsis marmoratus) as a surrogate indicator system for assessing the effects of fragmentation in highly modified river basins and for prioritizing basin-wide management strategies. We combined individual, population and landscape-based approaches to analyze genetic variation in samples spanning the distribution of the species in Australia's Murray-Darling Basin, one of the world's most degraded freshwater systems. Our results indicate that G. marmoratus displays the hallmark of severe habitat fragmentation with notably scattered, small and demographically isolated populations with very low genetic diversity-a pattern found not only between regions and catchments but also between streams within catchments. By using hierarchically nested population sampling and assessing relationships between genetic uniqueness and genetic diversity across populations, we developed a spatial management framework that includes the selection of populations in need of genetic rescue. Landscape genetics provided an environmental criterion to identify associations between landscape features and ecological processes. Our results further our understanding of the impact that habitat quality and quantity has on habitat specialists with similarly low dispersal. They should also have practical applications for prioritizing both large- and small-scale conservation management actions for organisms inhabiting highly fragmented ecosystems.

  17. A Randomized Placebo-controlled Trial to Test a Genetically-informed Biomarker ForPersonalizing Treatment for Tobacco Dependence

    PubMed Central

    Lerman, Caryn; Schnoll, Robert A.; Hawk, Larry W.; Cinciripini, Paul; George, Tony P.; Wileyto, E. Paul; Swan, Gary E.; Benowitz, Neal I.; Heitjan, Daniel F.; Tyndale, Rachel F.

    2015-01-01

    Summary Background There is substantial variability in therapeutic response and adverse effects with pharmacotherapies for tobacco dependence. Biomarkers to optimize treatment choice for individual smokers may improve treatment outcomes.Wetested whether a genetically-informed biomarker of nicotine clearance, the nicotine metabolite ratio (NMR; 3’hydroxycotinine/cotinine), predicts response to nicotine patch vs. varenicline for smoking cessation. Methods AnNMR-stratified multicenter, randomized, placebo-controlled clinical trial was conducted from November 2010-September 2013 at 4 sites. Treatment-seeking smokers (1246: 662 slow metabolizers; 584 normal metabolizers) were randomized to 11-weeks of nicotine patch (active patch + placebo pill), varenicline (active pill + placebo patch), or placebo (placebo pill + patch), plus behavioral counseling; an intent-to-treat analysis was conducted. Participants were followed for 12-months following the target quit date.The primary endpoint was biochemically verified 7-day point prevalence abstinence at the end of treatment (EOT) to estimate the pharmacologic effect of treatment by NMR. Secondary outcomes were side-effects, withdrawal symptoms, and 6- and 12-month abstinence rates. ClinicalTrials.govregistration: NCT01314001 Findings In the longitudinal model including all time points, the NMR-by-treatment interaction was significant (ratio of odds ratios (ORR)=1·96; CI=(1·11, 3·46); p=0·02). The results indicate that varenicline was more efficacious than nicotine patch for normal metabolizers, whilethe efficacy was equivalent for slow metabolizers. In cross-sectional analyses, the interaction was significant at EOT (ORR)=1·89; CI=(1·02, 3·45); p=0·04) andat 6-months (ORR=2·07; CI=(1·01, 4·22); p=0·05), but not at 12-months (p=0·14). An NMR-by-treatment interaction showed that slow (vs. normal) metabolizers reported greater overallside-effects severity with vareniclinevs. placebo (β−1·06; CI=(−2·08, −0

  18. Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent.

    PubMed

    Browning, Sharon R; Browning, Brian L

    2015-09-03

    Existing methods for estimating historical effective population size from genetic data have been unable to accurately estimate effective population size during the most recent past. We present a non-parametric method for accurately estimating recent effective population size by using inferred long segments of identity by descent (IBD). We found that inferred segments of IBD contain information about effective population size from around 4 generations to around 50 generations ago for SNP array data and to over 200 generations ago for sequence data. In human populations that we examined, the estimates of effective size were approximately one-third of the census size. We estimate the effective population size of European-ancestry individuals in the UK four generations ago to be eight million and the effective population size of Finland four generations ago to be 0.7 million. Our method is implemented in the open-source IBDNe software package.

  19. Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

    PubMed Central

    Browning, Sharon R.; Browning, Brian L.

    2015-01-01

    Existing methods for estimating historical effective population size from genetic data have been unable to accurately estimate effective population size during the most recent past. We present a non-parametric method for accurately estimating recent effective population size by using inferred long segments of identity by descent (IBD). We found that inferred segments of IBD contain information about effective population size from around 4 generations to around 50 generations ago for SNP array data and to over 200 generations ago for sequence data. In human populations that we examined, the estimates of effective size were approximately one-third of the census size. We estimate the effective population size of European-ancestry individuals in the UK four generations ago to be eight million and the effective population size of Finland four generations ago to be 0.7 million. Our method is implemented in the open-source IBDNe software package. PMID:26299365

  20. [Genetic Counseling of HBOC and Japanese Organization of HBOC].

    PubMed

    Fukushima, Yoshimitsu

    2017-02-01

    Genetic testing, which reveals germline mutations, is extremely important for HBOC patients and their families. The evolution of this field has created a need for accurate cancer genetic counseling and risk assessment. Prevention and early therapy are possible in HBOC. If a patient has BRCA1 or BRCA2 mutations, the at-risk relatives should receive the information through genetic counseling. Genetic counseling provides not only information but also psychological and social support so that the patient or subject can autonomously decide. Clinical practice for the treatment of HBOC needs a multidisciplinary network that includes clinical geneticists, breast cancer surgeons, and ovarian cancer surgeons. Thus, the Japan Society of Human Genetics, Japan Breast Cancer Society, and Japan Society of Obstetrics and Gynecology established a new corporation named Japanese Organization of HBOC(JOHBOC)for a HBOC comprehensive medical care system.

  1. Associations between reading achievement and independent reading in early elementary school: a genetically informative cross-lagged study.

    PubMed

    Harlaar, Nicole; Deater-Deckard, Kirby; Thompson, Lee A; Dethorne, Laura S; Petrill, Stephen A

    2011-01-01

    This study used a cross-lagged twin design to examine reading achievement and independent reading from 10 to 11 years (n = 436 twin pairs). Reading achievement at age 10 significantly predicted independent reading at age 11. The alternative path, from independent reading at age 10 to reading achievement at age 11, was not significant. Individual differences in reading achievement and independent reading at both ages were primarily due to genetic influences. Furthermore, individual differences in independent reading at age 11 partly reflected genetic influences on reading achievement at age 10. These findings suggest that genetic influences that contribute to individual differences in children's reading abilities also influence the extent to which children actively seek out and create opportunities to read.

  2. Effective utilization of genetic information for athletes and coaches: focus on ACTN3 R577X polymorphism

    PubMed Central

    Kikuchi, Naoki; Nakazato, Koichi

    2015-01-01

    Training variants (type, intensity, and duration of exercise) can be selected according to individual aims and fitness assessment. Recently, various methods of resistance and endurance training have been used for muscle hypertrophy and VO2max improvement. Although several genetic variants are associated with elite athletic performance and muscle phenotypes, genetic background has not been used as variant for physical training. ACTN3 R577X is a well-studied genetic polymorphism. It is the only genotype associated with elite athletic performance in multiple cohorts. This association is strongly supported by mechanistic data from an Actn3-knockout mouse model. In this review, possible guidelines are discussed for effective utilization of ACTN3 R577X polymorphism for physical training. PMID:26526670

  3. Genetics Home Reference: Meckel syndrome

    MedlinePlus

    ... MKS Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Health Topic: Brain Malformations Health Topic: Kidney Cysts Health Topic: Neural Tube Defects Genetic and Rare Diseases Information Center (1 link) ...

  4. A synthetic genetic edge detection program.

    PubMed

    Tabor, Jeffrey J; Salis, Howard M; Simpson, Zachary Booth; Chevalier, Aaron A; Levskaya, Anselm; Marcotte, Edward M; Voigt, Christopher A; Ellington, Andrew D

    2009-06-26

    Edge detection is a signal processing algorithm common in artificial intelligence and image recognition programs. We have constructed a genetically encoded edge detection algorithm that programs an isogenic community of E. coli to sense an image of light, communicate to identify the light-dark edges, and visually present the result of the computation. The algorithm is implemented using multiple genetic circuits. An engineered light sensor enables cells to distinguish between light and dark regions. In the dark, cells produce a diffusible chemical signal that diffuses into light regions. Genetic logic gates are used so that only cells that sense light and the diffusible signal produce a positive output. A mathematical model constructed from first principles and parameterized with experimental measurements of the component circuits predicts the performance of the complete program. Quantitatively accurate models will facilitate the engineering of more complex biological behaviors and inform bottom-up studies of natural genetic regulatory networks.

  5. A Synthetic Genetic Edge Detection Program

    PubMed Central

    Tabor, Jeffrey J.; Salis, Howard; Simpson, Zachary B.; Chevalier, Aaron A.; Levskaya, Anselm; Marcotte, Edward M.; Voigt, Christopher A.; Ellington, Andrew D.

    2009-01-01

    Summary Edge detection is a signal processing algorithm common in artificial intelligence and image recognition programs. We have constructed a genetically encoded edge detection algorithm that programs an isogenic community of E.coli to sense an image of light, communicate to identify the light-dark edges, and visually present the result of the computation. The algorithm is implemented using multiple genetic circuits. An engineered light sensor enables cells to distinguish between light and dark regions. In the dark, cells produce a diffusible chemical signal that diffuses into light regions. Genetic logic gates are used so that only cells that sense light and the diffusible signal produce a positive output. A mathematical model constructed from first principles and parameterized with experimental measurements of the component circuits predicts the performance of the complete program. Quantitatively accurate models will facilitate the engineering of more complex biological behaviors and inform bottom-up studies of natural genetic regulatory networks. PMID:19563759

  6. Within a smoking-cessation program, what impact does genetic information on lung cancer need to have to demonstrate cost-effectiveness?

    PubMed Central

    2010-01-01

    Background Many smoking-cessation programs and pharmaceutical aids demonstrate substantial health gains for a relatively low allocation of resources. Genetic information represents a type of individualized or personal feedback regarding the risk of developing lung cancer, and hence the potential benefits from stopping smoking, may motivate the person to remain smoke-free. The purpose of this study was to explore what the impact of a genetic test needs to have within a typical smoking-cessation program aimed at heavy smokers in order to be cost-effective. Methods Two strategies were modelled for a hypothetical cohort of heavy smokers aged 50 years; individuals either received or did not receive a genetic test within the course of a usual smoking-cessation intervention comprising nicotine replacement therapy (NRT) and counselling. A Markov model was constructed using evidence from published randomized controlled trials and meta-analyses for estimates on 12-month quit rates and long-term relapse rates. Epidemiological data were used for estimates on lung cancer risk stratified by time since quitting and smoking patterns. Extensive sensitivity analyses were used to explore parameter uncertainty. Results The discounted incremental cost per QALY was AU$34,687 (95% CI $12,483, $87,734) over 35 years. At a willingness-to-pay of AU$20,000 per QALY gained, the genetic testing strategy needs to produce a 12-month quit rate of at least 12.4% or a relapse rate 12% lower than NRT and counselling alone for it to be equally cost-effective. The likelihood that adding a genetic test to the usual smoking-cessation intervention is cost-effective was 20.6% however cost-effectiveness ratios were favourable in certain situations (e.g., applied to men only, a 60 year old cohort). Conclusions The findings were sensitive to small changes in critical variables such as the 12-month quit rates and relapse rates. As such, the cost-effectiveness of the genetic testing smoking cessation program

  7. The NLSY Kinship Links: Using the NLSY79 and NLSY-Children Data to Conduct Genetically-Informed and Family-Oriented Research.

    PubMed

    Rodgers, Joseph Lee; Beasley, William H; Bard, David E; Meredith, Kelly M; D Hunter, Michael; Johnson, Amber B; Buster, Maury; Li, Chengchang; May, Kim O; Mason Garrison, S; Miller, Warren B; van den Oord, Edwin; Rowe, David C

    2016-07-01

    The National Longitudinal Survey of Youth datasets (NLSY79; NLSY-Children/Young Adults; NLSY97) have extensive family pedigree information contained within them. These data sources are based on probability sampling, a longitudinal design, and a cross-generational and within-family data structure, with hundreds of phenotypes relevant to behavior genetic (BG) researchers, as well as to other developmental and family researchers. These datasets provide a unique and powerful source of information for BG researchers. But much of the information required for biometrical modeling has been hidden, and has required substantial programming effort to uncover-until recently. Our research team has spent over 20 years developing kinship links to genetically inform biometrical modeling. In the most recent release of kinship links from two of the NLSY datasets, the direct kinship indicators included in the 2006 surveys allowed successful and unambiguous linking of over 94 % of the potential pairs. In this paper, we provide details for research teams interested in using the NLSY data portfolio to conduct BG (and other family-oriented) research.

  8. Adoptive Parent Hostility and Children's Peer Behavior Problems: Examining the Role of Genetically Informed Child Attributes on Adoptive Parent Behavior

    ERIC Educational Resources Information Center

    Elam, Kit K.; Harold, Gordon T.; Neiderhiser, Jenae M.; Reiss, David; Shaw, Daniel S.; Natsuaki, Misaki N.; Gaysina, Darya; Barrett, Doug; Leve, Leslie D.

    2014-01-01

    Socially disruptive behavior during peer interactions in early childhood is detrimental to children's social, emotional, and academic development. Few studies have investigated the developmental underpinnings of children's socially disruptive behavior using genetically sensitive research designs that allow examination of parent-on-child and…

  9. Informing a Learning Progression in Genetics: Which Should Be Taught First, Mendelian Inheritance or the Central Dogma of Molecular Biology?

    ERIC Educational Resources Information Center

    Duncan, Ravit Golan; Castro-Faix, Moraima; Choi, Jinnie

    2016-01-01

    The Framework for Science Education and the Next Generation Science Standards in the USA emphasize learning progressions (LPs) that support conceptual coherence and the gradual building of knowledge over time. In the domain of genetics there are two independently developed alternative LPs. In essence, the difference between the two progressions…

  10. Current status of genetics and genomics of reared penaeid shrimp: information relevant to access and benefit sharing.

    PubMed

    Andriantahina, Farafidy; Liu, Xiaolin; Feng, Tingting; Xiang, Jianhai

    2013-08-01

    At present, research and progress in shrimp genomics and genetics show significant developments. Shrimp genetics and genomics also show immense potential for an increased production in a way that meets shrimp culture progress goals for the third millennium. This review article aims to provide an overview of its current status and future direction, discusses questions that need focused research to address them, and summarizes areas where genetics and genomics knowledge can make a positive difference to shrimp culture sustainability. Sustainable progress of penaeid shrimps will depend upon feasible solutions for environmental, research, economic, consumer problems, proper development, and planning policy enforcement. It is recommended that increased funding for biotechnology research and progress be directed to expand worldwide commercial shrimp culture and address environmental and public health issues. For any researcher or shrimp company member who has attempted to or whom would like to thoroughly search the literature to gain a complete understanding of the current state of shrimp genetics and genomics, this publication will be an invaluable source of reference materials, some of which is reported here for the first time.

  11. A Genetically Informed Study of the Processes Underlying the Association between Parental Marital Instability and Offspring Adjustment

    ERIC Educational Resources Information Center

    D'Onofrio, Brian M.; Turkheimer, Eric; Emery, Robert E.; Slutske, Wendy S.; Heath, Andrew C.; Madden, Pamela A.; Martin, Nicholas G.

    2006-01-01

    Parental divorce is associated with problematic offspring adjustment, but the relation may be due to shared genetic or environmental factors. One way to test for these confounds is to study offspring of twins discordant for divorce. The current analyses used this design to separate the mechanisms responsible for the association between parental…

  12. Microfluidics for single-cell genetic analysis.

    PubMed

    Thompson, A M; Paguirigan, A L; Kreutz, J E; Radich, J P; Chiu, D T

    2014-09-07

    The ability to correlate single-cell genetic information to cellular phenotypes will provide the kind of detailed insight into human physiology and disease pathways that is not possible to infer from bulk cell analysis. Microfluidic technologies are attractive for single-cell manipulation due to precise handling and low risk of contamination. Additionally, microfluidic single-cell techniques can allow for high-throughput and detailed genetic analyses that increase accuracy and decrease reagent cost compared to bulk techniques. Incorporating these microfluidic platforms into research and clinical laboratory workflows can fill an unmet need in biology, delivering the highly accurate, highly informative data necessary to develop new therapies and monitor patient outcomes. In this perspective, we describe the current and potential future uses of microfluidics at all stages of single-cell genetic analysis, including cell enrichment and capture, single-cell compartmentalization and manipulation, and detection and analyses.

  13. Underwhelmed: hyperbole, regulatory policy, and the genetic revolution.

    PubMed

    Caulfield, T

    2000-05-01

    Rapid advances in the field of genetics in recent years have caused some commentators to suggest the emergence of a "genetic revolution." Such advances have been both praised as the "future of medicine" and condemned for encouraging the acceptance in society of laissez-faire eugenics. Yet the effect of technological advances flowing from the science of genetics appear somewhat overstated as few products of the genetic revolution, particularly in the areas of gene therapy and genetic testing, have managed to satisfy scientists' expectations to date. Furthermore, misdirected regulation of such advances can exacerbate the social, legal, and ethical problems associated with genetics, particularly in the context of health care, where issues of human cloning and the use of premature genetic testing technologies dominate current public debate. In this article, the author criticizes the hyperbolic rhetoric surrounding the genetic revolution and calls for a more balanced and informed approach to the development of genetic policies and regulations. Such an approach should include substantial interdisciplinary debate and an active role on the part of government in the identification and communication of accurate information relating to the effects of recent technological advances in the field of genetics.

  14. FANSe: an accurate algorithm for quantitative mapping of large scale sequencing reads

    PubMed Central

    Zhang, Gong; Fedyunin, Ivan; Kirchner, Sebastian; Xiao, Chuanle; Valleriani, Angelo; Ignatova, Zoya

    2012-01-01

    The most crucial step in data processing from high-throughput sequencing applications is the accurate and sensitive alignment of the sequencing reads to reference genomes or transcriptomes. The accurate detection of insertions and deletions (indels) and errors introduced by the sequencing platform or by misreading of modified nucleotides is essential for the quantitative processing of the RNA-based sequencing (RNA-Seq) datasets and for the identification of genetic variations and modification patterns. We developed a new, fast and accurate algorithm for nucleic acid sequence analysis, FANSe, with adjustable mismatch allowance settings and ability to handle indels to accurately and quantitatively map millions of reads to small or large reference genomes. It is a seed-based algorithm which uses the whole read information for mapping and high sensitivity and low ambiguity are achieved by using short and non-overlapping reads. Furthermore, FANSe uses hotspot score to prioritize the processing of highly possible matches and implements modified Smith–Watermann refinement with reduced scoring matrix to accelerate the calculation without compromising its sensitivity. The FANSe algorithm stably processes datasets from various sequencing platforms, masked or unmasked and small or large genomes. It shows a remarkable coverage of low-abundance mRNAs which is important for quantitative processing of RNA-Seq datasets. PMID:22379138

  15. FANSe: an accurate algorithm for quantitative mapping of large scale sequencing reads.

    PubMed

    Zhang, Gong; Fedyunin, Ivan; Kirchner, Sebastian; Xiao, Chuanle; Valleriani, Angelo; Ignatova, Zoya

    2012-06-01

    The most crucial step in data processing from high-throughput sequencing applications is the accurate and sensitive alignment of the sequencing reads to reference genomes or transcriptomes. The accurate detection of insertions and deletions (indels) and errors introduced by the sequencing platform or by misreading of modified nucleotides is essential for the quantitative processing of the RNA-based sequencing (RNA-Seq) datasets and for the identification of genetic variations and modification patterns. We developed a new, fast and accurate algorithm for nucleic acid sequence analysis, FANSe, with adjustable mismatch allowance settings and ability to handle indels to accurately and quantitatively map millions of reads to small or large reference genomes. It is a seed-based algorithm which uses the whole read information for mapping and high sensitivity and low ambiguity are achieved by using short and non-overlapping reads. Furthermore, FANSe uses hotspot score to prioritize the processing of highly possible matches and implements modified Smith-Watermann refinement with reduced scoring matrix to accelerate the calculation without compromising its sensitivity. The FANSe algorithm stably processes datasets from various sequencing platforms, masked or unmasked and small or large genomes. It shows a remarkable coverage of low-abundance mRNAs which is important for quantitative processing of RNA-Seq datasets.

  16. Qualitative analysis of mouse specific-locus mutations: information on genetic organization, gene expression, and the chromosomal nature of induced lesions

    SciTech Connect

    Russell, L.B.

    1982-01-01

    Analysis of mouse specific-locus (SL) mutations at three loci has identified over 33 distinct complementation groups - most of which are probably overlapping deficiencies - and 13 to 14 new functional units. The complementation maps that have been generated for the d-se and c regions include numerous vital functions; however, some of the genes in these regions are non-vital. At such loci, hypomorphic mutants must represent intragenic alterations, and some viable nulls could conceivably be intragenic lesions also. Analysis of SL mutations has provided information on genetic expression. Homozygous deficiencies can be completely viable or can kill at any one of a range of developmental stages. Heterozygonus deficiencies of up to 6 cM or more in genetic length have been recovered and propagated. The time of death of homozygous and the degree of inviability of heterozygous deficiencies are related more to specific content of the missing segment than to its length. Combinations of deficiencies with x-autosome translocations that inactivate the homologous region in a mosaic fashion have shown that organismic lethals are not necessarily cell lethal. The spectrum of mutations induced depends on the nature of the mutagen and the type of germ cell exposed. Radiation of spermatogonia produces intragenic as well as null mutations. Spontaneous mutations have an admixture of types not present in populations of mutations induced in germ cells, and this raises doubts concerning the accuracy of doubling-dose calculations in genetic risk estimation. The analysis of SL mutations has yielded genetic tools for the construction of detailed gene-dosage series, cis-trans comparisons, the mapping of known genes and identification of new genes, genetic rescue of various types, and the identification and isolation of DNA sequences. (ERB)

  17. Genetic parameters of coagulation properties, milk yield, quality, and acidity estimated using coagulating and noncoagulating milk information in Brown Swiss and Holstein-Friesian cows.

    PubMed

    Cecchinato, A; Penasa, M; De Marchi, M; Gallo, L; Bittante, G; Carnier, P

    2011-08-01

    The aim of this study was to estimate heritabilities of rennet coagulation time (RCT) and curd firmness (a(30)) and their genetic correlations with test-day milk yield, composition (fat, protein, and casein content), somatic cell score, and acidity (pH and titratable acidity) using coagulating and noncoagulating (NC) milk information. Data were from 1,025 Holstein-Friesian (HF) and 1,234 Brown Swiss (BS) cows, which were progeny of 54 HF and 58 BS artificial insemination sires, respectively. Milk coagulation properties (MCP) of each cow were measured once using a computerized renneting meter and samples not exhibiting coagulation within 31 min after rennet addition were classified as NC milk. For NC samples, RCT was unobserved. Multivariate analyses, using Bayesian methodology, were performed to estimate the genetic relationships of RCT or a(30) with the other traits and statistical inference was based on the marginal posterior distributions of parameters of concern. For analyses involving RCT, a right-censored Gaussian linear model was used and records of NC milk samples, being censored records, were included as unknown parameters in the model implementing a data augmentation procedure. Rennet coagulation time was more heritable [heritability (h(2))=0.240 and h(2)=0.210 for HF and BS, respectively] than a(30) (h(2)=0.148 and h(2)=0.168 for HF and BS, respectively). Milk coagulation properties were more heritable than a single test-day milk yield (h(2)=0.103 and h(2)=0.097 for HF and BS, respectively) and less heritable than milk composition traits whose heritability ranged from 0.275 to 0.275, with the only exception of fat content of BS milk (h(2)=0.108). A negative genetic correlation, lower than -0.85, was estimated between RCT and a(30) for both breeds. Genetic relationships of MCP with yield and composition were low or moderate and favorable. The genetic correlation of somatic cell score with RCT in BS cows was large and positive and even more positive were

  18. New law requires 'medically accurate' lesson plans.

    PubMed

    1999-09-17

    The California Legislature has passed a bill requiring all textbooks and materials used to teach about AIDS be medically accurate and objective. Statements made within the curriculum must be supported by research conducted in compliance with scientific methods, and published in peer-reviewed journals. Some of the current lesson plans were found to contain scientifically unsupported and biased information. In addition, the bill requires material to be "free of racial, ethnic, or gender biases." The legislation is supported by a wide range of interests, but opposed by the California Right to Life Education Fund, because they believe it discredits abstinence-only material.

  19. Genetics Home Reference: autoimmune lymphoproliferative syndrome

    MedlinePlus

    ... More than 200 affected individuals have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  20. Genetics Home Reference: juvenile Paget disease

    MedlinePlus

    ... rare; about 50 affected individuals have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  1. Genetics of Hearing Loss

    MedlinePlus

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  2. [China genetic counseling network (CGCN): a website on genetic counseling and genetic education].

    PubMed

    He, Min; Li, Wei

    2007-03-01

    In April 2005, with the voluntary involvement of more than 50 worldwide genetic counselors or medical geneticists, we developed a website for online genetic counseling and genetic education on common genetic disease throughout China (URL: http://www.gcnet.org.cn). This website is offering professional online genetic counseling, as well as providing information about common genetic diseases which is a resource for genetic counselors and online genetic counselees. Online genetic counseling is an alternative method to the widely accepted face-to-face counseling. The data warehouse of China Genetic Counseling Network (CGCN) will be a unique supplement to current status of Clinical Genetics and healthcare system in China.

  3. Adoptive parent hostility and children's peer behavior problems: examining the role of genetically informed child attributes on adoptive parent behavior.

    PubMed

    Elam, Kit K; Harold, Gordon T; Neiderhiser, Jenae M; Reiss, David; Shaw, Daniel S; Natsuaki, Misaki N; Gaysina, Darya; Barrett, Doug; Leve, Leslie D

    2014-05-01

    Socially disruptive behavior during peer interactions in early childhood is detrimental to children's social, emotional, and academic development. Few studies have investigated the developmental underpinnings of children's socially disruptive behavior using genetically sensitive research designs that allow examination of parent-on-child and child-on-parent (evocative genotype-environment correlation [rGE]) effects when examining family process and child outcome associations. Using an adoption-at-birth design, the present study controlled for passive genotype-environment correlation and directly examined evocative rGE while examining the associations between family processes and children's peer behavior. Specifically, the present study examined the evocative effect of genetic influences underlying toddler low social motivation on mother-child and father-child hostility and the subsequent influence of parent hostility on disruptive peer behavior during the preschool period. Participants were 316 linked triads of birth mothers, adoptive parents, and adopted children. Path analysis showed that birth mother low behavioral motivation predicted toddler low social motivation, which predicted both adoptive mother-child and father-child hostility, suggesting the presence of an evocative genotype-environment association. In addition, both mother-child and father-child hostility predicted children's later disruptive peer behavior. Results highlight the importance of considering genetically influenced child attributes on parental hostility that in turn links to later child social behavior. Implications for intervention programs focusing on early family processes and the precursors of disrupted child social development are discussed.

  4. Reading self-perceived ability, enjoyment and achievement: A genetically informative study of their reciprocal links over time.

    PubMed

    Malanchini, Margherita; Wang, Zhe; Voronin, Ivan; Schenker, Victoria J; Plomin, Robert; Petrill, Stephen A; Kovas, Yulia

    2017-04-01

    Extant literature has established a consistent association between aspects of reading motivation, such as enjoyment and self-perceived ability, and reading achievement, in that more motivated readers are generally more skilled readers. However, the developmental etiology of this relation is yet to be investigated. The present study explores the development of the motivation-achievement association and its genetic and environmental underpinnings. Applying cross-lagged design in a sample of 13,825 twins, we examined the relative contribution of genetic and environmental factors to the association between reading enjoyment and self-perceived ability and reading achievement. Children completed a reading comprehension task and self-reported their reading enjoyment and perceived ability twice in middle childhood: when they were 9-10 and 12 years old. Results showed a modest reciprocal association over time between reading motivation (enjoyment and perceived ability) and reading achievement. Reading motivation at age 9-10 statistically predicted the development of later achievement, and similarly, reading achievement at age 9-10 predicted the development of later motivation. This reciprocal association was observed beyond the stability of the variables and their contemporaneous correlation and was largely explained by genetic factors. (PsycINFO Database Record

  5. Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information.

    PubMed

    van Binsbergen, R; Veerkamp, R F; Calus, M P L

    2012-04-01

    The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances. Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk yield, fat yield, protein yield, and their percentages in more detail. Phenotypic records of 1,737 heifers of research farms in 4 different countries were used after homogenizing and adjusting for management effects. All cows had a genotype for 37,590 single nucleotide polymorphisms (SNP). A bayesian stochastic search variable selection model was used to estimate the SNP effects for each trait. About 0.5 to 1.0% of the SNP had a significant effect on 1 or more traits; however, the SNP without a significant effect explained most of the genetic variances and covariances of the traits. Single nucleotide polymorphism correlations differed from the polygenic correlations, but only 10 regions were found with an effect on multiple traits; in 1 of these regions the DGAT1 gene was previously reported with an effect on multiple traits. This region explained up to 41% of the variances of 4 traits and explained a major part of the correlation between fat yield and fat percentage and contributes to asymmetry in correlated response between fat yield and fat percentage. Overall, for the traits in this study, the infinitesimal model is expected to be sufficient for the estimation of the variances and covariances.

  6. Reading Self-Perceived Ability, Enjoyment and Achievement: A Genetically Informative Study of Their Reciprocal Links Over Time

    PubMed Central

    2017-01-01

    Extant literature has established a consistent association between aspects of reading motivation, such as enjoyment and self-perceived ability, and reading achievement, in that more motivated readers are generally more skilled readers. However, the developmental etiology of this relation is yet to be investigated. The present study explores the development of the motivation–achievement association and its genetic and environmental underpinnings. Applying cross-lagged design in a sample of 13,825 twins, we examined the relative contribution of genetic and environmental factors to the association between reading enjoyment and self-perceived ability and reading achievement. Children completed a reading comprehension task and self-reported their reading enjoyment and perceived ability twice in middle childhood: when they were 9–10 and 12 years old. Results showed a modest reciprocal association over time between reading motivation (enjoyment and perceived ability) and reading achievement. Reading motivation at age 9–10 statistically predicted the development of later achievement, and similarly, reading achievement at age 9–10 predicted the development of later motivation. This reciprocal association was observed beyond the stability of the variables and their contemporaneous correlation and was largely explained by genetic factors. PMID:28333527

  7. University Students' Knowledge Structures and Informal Reasoning on the Use of Genetically Modified Foods: Multidimensional Analyses

    ERIC Educational Resources Information Center

    Wu, Ying-Tien

    2013-01-01

    This study aims to provide insights into the role of learners' knowledge structures about a socio-scientific issue (SSI) in their informal reasoning on the issue. A total of 42 non-science major university students' knowledge structures and informal reasoning were assessed with multidimensional analyses. With both qualitative and…

  8. Genetic screening

    PubMed Central

    Andermann, Anne; Blancquaert, Ingeborg

    2010-01-01

    Abstract OBJECTIVE To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate. QUALITY OF EVIDENCE As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature. MAIN MESSAGE Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole. CONCLUSION Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to

  9. Genetics and genomic medicine.

    PubMed

    Bogaard, Kali; Johnson, Marlene

    2009-01-01

    Genetics is playing an increasingly important role in the diagnosis, monitoring and treatment of diseases, and the expansion of genetics into health care has generated the field of genomic medicine. Health care delivery is shifting away from general diagnostic evaluation toward a generation of therapeutics based on a patient's genetic makeup. Meanwhile, the scientific community debates how best to incorporate genetics and genomic medicine into practice. While obstacles remain, the ultimate goal is to use information generated from the study of human genetics to improve disease treatment, cure and prevention. As the use of genetics in medical diagnosis and treatment increases, health care workers will require an understanding of genetics and genomic medicine.

  10. RNA genetics

    SciTech Connect

    Domingo, E. ); Holland, J.J. . Dept. of Biology); Ahlquist, P. . Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  11. Non-targeted analysis of electronics waste by comprehensive two-dimensional gas chromatography combined with high-resolution mass spectrometry: Using accurate mass information and mass defect analysis to explore the data.

    PubMed

    Ubukata, Masaaki; Jobst, Karl J; Reiner, Eric J; Reichenbach, Stephen E; Tao, Qingping; Hang, Jiliang; Wu, Zhanpin; Dane, A John; Cody, Robert B

    2015-05-22

    Comprehensive two-dimensional gas chromatography (GC×GC) and high-resolution mass spectrometry (HRMS) offer the best possible separation of their respective techniques. Recent commercialization of combined GC×GC-HRMS systems offers new possibilities for the analysis of complex mixtures. However, such experiments yield enormous data sets that require new informatics tools to facilitate the interpretation of the rich information content. This study reports on the analysis of dust obtained from an electronics recycling facility by using GC×GC in combination with a new high-resolution time-of-flight (TOF) mass spectrometer. New software tools for (non-traditional) Kendrick mass defect analysis were developed in this research and greatly aided in the identification of compounds containing chlorine and bromine, elements that feature in most persistent organic pollutants (POPs). In essence, the mass defect plot serves as a visual aid from which halogenated compounds are recognizable on the basis of their mass defect and isotope patterns. Mass chromatograms were generated based on specific ions identified in the plots as well as region of the plot predominantly occupied by halogenated contaminants. Tentative identification was aided by database searches, complementary electron-capture negative ionization experiments and elemental composition determinations from the exact mass data. These included known and emerging flame retardants, such as polybrominated diphenyl ethers (PBDEs), hexabromobenzene, tetrabromo bisphenol A and tris (1-chloro-2-propyl) phosphate (TCPP), as well as other legacy contaminants such as polychlorinated biphenyls (PCBs) and polychlorinated terphenyls (PCTs).

  12. Pathways to support genetically modified (GM) foods in South Korea: Deliberate reasoning, information shortcuts, and the role of formal education.

    PubMed

    Kim, Sei-Hill; Kim, Jeong-Nam; Besley, John C

    2013-02-01

    Analyzing survey data on the issue of GM foods in South Korea, this study examines two competing routes - deliberate reasoning versus information shortcuts - to forming opinions on controversial science. Findings indicated that both deliberate reasoning and information shortcuts were in play; but the process was moderated by a person's education level. The well educated were more likely than the less educated to engage in deliberate reasoning when shaping their support for GM foods. Implications of the findings are discussed in detail.

  13. How Are Genetic Conditions Treated or Managed?

    MedlinePlus

    ... are genetic conditions treated or managed? How are genetic conditions treated or managed? Many genetic disorders result ... out more about the treatment and management of genetic conditions: Links to information about the treatment of ...

  14. Post-translational modification: nature’s escape from genetic imprisonment and the basis for dynamic information encoding

    PubMed Central

    Prabakaran, Sudhakaran; Lippens, Guy; Steen, Hanno; Gunawardena, Jeremy

    2012-01-01

    We discuss protein post-translational modification (PTM) from an information processing perspective. PTM at multiple sites on a protein creates a combinatorial explosion in the number of potential “mod-forms”, or global patterns of modification. Distinct mod-forms can elicit distinct downstream responses, so that the overall response depends partly on the effectiveness of a particular mod-form to elicit a response and partly on the stoichiometry of that mod-form in the molecular population. We introduce the “mod-form distribution”—the relative stoichiometries of each mod-form—as the most informative measure of a protein’s state. Distinct mod-form distributions may summarise information about distinct cellular and physiological conditions and allow downstream processes to interpret this information accordingly. Such information “encoding” by PTMs may facilitate evolution by weakening the need to directly link upstream conditions to downstream responses. Mod-form distributions provide a quantitative framework in which to interpret ideas of “PTM codes” that are emerging in several areas of biology, as we show by reviewing examples of ion channels, GPCRs, microtubules and transcriptional co-regulators. We focus particularly on examples other than the well known “histone code”, to emphasise the pervasive use of information encoding in molecular biology. Finally, we touch briefly on new methods for measuring mod-form distributions. PMID:22899623

  15. On numerically accurate finite element

    NASA Technical Reports Server (NTRS)

    Nagtegaal, J. C.; Parks, D. M.; Rice, J. R.

    1974-01-01

    A general criterion for testing a mesh with topologically similar repeat units is given, and the analysis shows that only a few conventional element types and arrangements are, or can be made suitable for computations in the fully plastic range. Further, a new variational principle, which can easily and simply be incorporated into an existing finite element program, is presented. This allows accurate computations to be made even for element designs that would not normally be suitable. Numerical results are given for three plane strain problems, namely pure bending of a beam, a thick-walled tube under pressure, and a deep double edge cracked tensile specimen. The effects of various element designs and of the new variational procedure are illustrated. Elastic-plastic computation at finite strain are discussed.

  16. Genetics Home Reference: aniridia

    MedlinePlus

    ... Genetic Testing Registry: Congenital aniridia Other Diagnosis and Management Resources (1 link) GeneReview: Aniridia General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy ...

  17. Elephant behaviour and conservation: social relationships, the effects of poaching, and genetic tools for management.

    PubMed

    Archie, Elizabeth A; Chiyo, Patrick I

    2012-02-01

    Genetic tools are increasingly valuable for understanding the behaviour, evolution, and conservation of social species. In African elephants, for instance, genetic data provide basic information on the population genetic causes and consequences of social behaviour, and how human activities alter elephants' social and genetic structures. As such, African elephants provide a useful case study to understand the relationships between social behaviour and population genetic structure in a conservation framework. Here, we review three areas where genetic methods have made important contributions to elephant behavioural ecology and conservation: (1) understanding kin-based relationships in females and the effects of poaching on the adaptive value of elephant relationships, (2) understanding patterns of paternity in elephants and how poaching can alter these patterns, and (3) conservation genetic tools to census elusive populations, track ivory, and understand the behavioural ecology of crop-raiding. By comparing studies from populations that have experienced a range of poaching intensities, we find that human activities have a large effect on elephant behaviour and genetic structure. Poaching disrupts kin-based association patterns, decreases the quality of elephant social relationships, and increases male reproductive skew, with important consequences for population health and the maintenance of genetic diversity. In addition, we find that genetic tools to census populations or gather forensic information are almost always more accurate than non-genetic alternatives. These results contribute to a growing understanding of poaching on animal behaviour, and how genetic tools can be used to understand and conserve social species.

  18. Consulting communities on feedback of genetic findings in international health research: sharing sickle cell disease and carrier information in coastal Kenya

    PubMed Central

    2013-01-01

    Background International health research in malaria-endemic settings may include screening for sickle cell disease, given the relationship between this important genetic condition and resistance to malaria, generating questions about whether and how findings should be disclosed. The literature on disclosing genetic findings in the context of research highlights the role of community consultation in understanding and balancing ethically important issues from participants’ perspectives, including social forms of benefit and harm, and the influence of access to care. To inform research practice locally, and contribute to policy more widely, this study aimed to explore the views of local residents in Kilifi County in coastal Kenya on how researchers should manage study-generated information on sickle cell disease and carrier status. Methods Between June 2010 and July 2011, we consulted 62 purposively selected Kilifi residents on how researchers should manage study-generated sickle cell disease findings. Methods drew on a series of deliberative informed small group discussions. Data were analysed thematically, using charts, to describe participants’ perceptions of the importance of disclosing findings, including reasoning, difference and underlying values. Themes were derived from the underlying research questions and from issues emerging from discussions. Data interpretation drew on relevant areas of social science and bioethics literature. Results Perceived health and social benefits generated strong support for disclosing findings on sickle cell disease, but the balance of social benefits and harms was less clear for sickle cell trait. Many forms of health and social benefits and harms of information-sharing were identified, with important underlying values related to family interests and the importance of openness. The influence of micro and macro level contextual features and prioritization of values led to marked diversity of opinion. Conclusions The approach

  19. Accurate ab Initio Spin Densities.

    PubMed

    Boguslawski, Katharina; Marti, Konrad H; Legeza, Ors; Reiher, Markus

    2012-06-12

    We present an approach for the calculation of spin density distributions for molecules that require very large active spaces for a qualitatively correct description of their electronic structure. Our approach is based on the density-matrix renormalization group (DMRG) algorithm to calculate the spin density matrix elements as a basic quantity for the spatially resolved spin density distribution. The spin density matrix elements are directly determined from the second-quantized elementary operators optimized by the DMRG algorithm. As an analytic convergence criterion for the spin density distribution, we employ our recently developed sampling-reconstruction scheme [J. Chem. Phys.2011, 134, 224101] to build an accurate complete-active-space configuration-interaction (CASCI) wave function from the optimized matrix product states. The spin density matrix elements can then also be determined as an expectation value employing the reconstructed wave function expansion. Furthermore, the explicit reconstruction of a CASCI-type wave function provides insight into chemically interesting features of the molecule under study such as the distribution of α and β electrons in terms of Slater determinants, CI coefficients, and natural orbitals. The methodology is applied to an iron nitrosyl complex which we have identified as a challenging system for standard approaches [J. Chem. Theory Comput.2011, 7, 2740].

  20. Parent, sibling and peer influences on smoking initiation, regular smoking and nicotine dependence. Results from a genetically informative design.

    PubMed

    Scherrer, Jeffrey F; Xian, Hong; Pan, Hui; Pergadia, Michele L; Madden, Pamela A F; Grant, Julia D; Sartor, Carolyn E; Haber, Jon Randolph; Jacob, Theodore; Bucholz, Kathleen K

    2012-03-01

    We sought to determine whether parenting, sibling and peer influences are associated with offspring ever smoking, regular smoking and nicotine dependence (ND) after controlling for familial factors. We used a twin-family design and data from structured diagnostic surveys of 1919 biological offspring (ages 12-32 years), 1107 twin fathers, and 1023 mothers. Offspring were classified into one of four familial risk groups based on twin fathers' and their co-twins' history of DSM-III-R nicotine dependence. Multivariate multinomial logistic regression was used to model familial risk, paternal and maternal parenting behavior and substance use, sibling substance use, and friend and school peer smoking, alcohol and drug use. Ever smoking was associated with increasing offspring age, white race, high maternal pressure to succeed in school, sibling drug use, and friend smoking, alcohol and drug use. Offspring regular smoking was associated with these same factors with additional contribution from maternal ND. Offspring ND was associated with increasing offspring age, male gender, biological parents divorce, high genetic risk from father and mother ND, maternal problem drinking, maternal rule inconsistency and sibling drug use, and friend smoking, alcohol and drug use. Friend smoking had the largest magnitude of association with offspring smoking. This effect remains after accounting for familial liability and numerous parent and sibling level effects. Smoking interventions may have greatest impact by targeting smoking prevention among peer groups in adolescent and young adult populations.

  1. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

    PubMed Central

    Caminsky, Natasha; Mucaki, Eliseos J.; Rogan, Peter K.

    2014-01-01

    The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding mutations that alter mRNA splicing in rare and common diseases. We compile and summarize the spectrum of published variants analyzed by IT, to provide a broad perspective of the distribution of deleterious natural and cryptic splice site variants detected, as well as those affecting splicing regulatory sequences. Results for natural splice site mutations can be interrogated dynamically with Splicing Mutation Calculator, a companion software program that computes changes in information content for any splice site substitution, linked to corresponding publications containing these mutations. The accuracy of IT-based analysis was assessed in the context of experimentally validated mutations. Because splice site information quantifies binding affinity, IT-based analyses can discern the differences between variants that account for the observed reduced (leaky) versus abolished mRNA splicing. We extend this principle by comparing predicted mutations in natural, cryptic, and regulatory splice sites with observed deleterious phenotypic and benign effects. Our analysis of 1727 variants revealed a number of general principles useful for ensuring portability of these analyses and accurate input and interpretation of mutations. We offer guidelines for optimal use of IT software for interpretation of mRNA splicing mutations. PMID:25717368

  2. Practical implications for genetic modeling in the genomics era for the dairy industry

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic models convert data into estimated breeding values and other information useful to breeders. The goal is to provide accurate and timely predictions of the future performance for each animal (or embryo). Modeling involves defining traits, editing raw data, removing environmental effects, incl...

  3. What Is Direct-to-Consumer Genetic Testing?

    MedlinePlus

    ... consumer genetic testing? What is direct-to-consumer genetic testing? Traditionally, genetic tests have been available only ... testing. For more information about direct-to-consumer genetic testing: The American College of Medical Genetics, which ...

  4. Genetic Analysis in Maize Foundation Parents with Mapping Population and Testcross Population: Ye478 Carried More Favorable Alleles and Using QTL Information Could Improve Foundation Parents.

    PubMed

    Liu, Yinghong; Hou, Xianbin; Xiao, Qianlin; Yi, Qiang; Bian, Shaowei; Hu, Yufeng; Liu, Hanmei; Zhang, Junjie; Hao, Xiaoqin; Cheng, Weidong; Li, Yu; Huang, Yubi

    2016-01-01

    The development of maize foundation parents is an important part of genetics and breeding research, and applying new genetic information to produce foundation parents has been challenging. In this study, we focused on quantitative trait loci (QTLs) and general combining ability (GCA) of Ye478, a widely used foundation parent in China. We developed three sets of populations for QTL mapping and to analyze the GCA for some agronomic traits. The assessment of 15 traits resulted in the detection of 251 QTLs in six tested environments, with 119 QTLs identified through a joint analysis across all environments. Further, analyses revealed that most favorable alleles for plant type-related traits were from Ye478, and more than half of the favorable alleles for yield-related traits were from R08, another foundation parent used in southwestern China, suggesting that different types of foundation parents carried different favorable alleles. We observed that the GCA for most traits (e.g., plant height and 100-kernel weight) was maintained in the inbred lines descended from the foundation parents. Additionally, the continuous improvement in the GCA of the descendants of the foundation parents was consistent with the main trend in maize breeding programs. We identified three significant genomic regions that were highly conserved in three Ye478 descendants, including the stable QTL for plant height. The GCA for the traits in the F7 generation revealed that the QTLs for the given traits per se were affected by additive effects in the same way in different populations.

  5. 78 FR 34604 - Submitting Complete and Accurate Information

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-10

    .... Nuclear Regulatory Commission (NRC) is publishing for comment a petition for rulemaking (PRM) filed with... into ADAMS. The Petition The NRC has received a PRM (ADAMS Accession No. ML13113A443) requesting the... been docketed as PRM-50-107. The full text of the incoming petition is available at...

  6. Introductory molecular genetics

    SciTech Connect

    Edwards-Moulds, J.

    1986-01-01

    This book begins with an overview of the current principles of genetics and molecular genetics. Over this foundation, it adds detailed and specialized information: a description of the translation, transcription, expression and regulation of DNA and RNA; a description of the manipulation of genetic material via promoters, enhancers, and gene splicing; and a description of cloning techniques, especially those for blood group genes. The last chapter looks to the impact of molecular genetics on transfusion medicine.

  7. Genetics Home Reference: sialuria

    MedlinePlus

    ... in my area? Other Names for This Condition French type sialuria Sialuria, French type Related Information How are genetic conditions and ... and Rare Diseases Information Center (1 link) Sialuria, French type Educational Resources (5 links) Cincinnati Children's Hospital ...

  8. Genetics Home Reference: phenylketonuria

    MedlinePlus

    ... Information & Resources MedlinePlus (4 links) Encyclopedia: Phenylketonuria Encyclopedia: Serum Phenylalanine Screening Health Topic: Newborn Screening Health Topic: Phenylketonuria Genetic and Rare Diseases Information Center (1 link) Phenylketonuria Additional NIH Resources ( ...

  9. Information processing of genetically modified food messages under different motives: an adaptation of the multiple-motive heuristic-systematic model.

    PubMed

    Kim, Jooyoung; Paek, Hye-Jin

    2009-12-01

    Recent risk management research has noted the importance of understanding how the lay public processes and reacts to risk-related information. Guided by the multiple-motive heuristic-systematic model, this study examines (1) how individuals process messages in the context of genetically modified foods to change their attitudes and (2) how the persuasion process varies across types of motives. In the three treatment conditions of accuracy, defense, and impression motives, the respondents changed their attitudes through either the heuristic or the systematic mode, depending on their motives. The accuracy-motive group appeared to use the systematic processing mode, while the impression-motive group seemed to employ the heuristic processing mode. The empirical findings highlight the importance of incorporating motives to improve our understanding of the process of attitude change in risk management and communication contexts.

  10. Genetic Mapping

    MedlinePlus

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human ...

  11. Genetic Counseling

    MedlinePlus

    ... Home > Pregnancy > Before or between pregnancies > Genetic counseling Genetic counseling E-mail to a friend Please fill ... a genetic counselor in your area. What is genetic counseling? Genetic counseling helps you understand how genes , ...

  12. Missing genetic information in case-control family data with general semi-parametric shared frailty model.

    PubMed

    Graber-Naidich, Anna; Gorfine, Malka; Malone, Kathleen E; Hsu, Li

    2011-04-01

    Case-control family data are now widely used to examine the role of gene-environment interactions in the etiology of complex diseases. In these types of studies, exposure levels are obtained retrospectively and, frequently, information on most risk factors of interest is available on the probands but not on their relatives. In this work we consider correlated failure time data arising from population-based case-control family studies with missing genotypes of relatives. We present a new method for estimating the age-dependent marginalized hazard function. The proposed technique has two major advantages: (1) it is based on the pseudo full likelihood function rather than a pseudo composite likelihood function, which usually suffers from substantial efficiency loss; (2) the cumulative baseline hazard function is estimated using a two-stage estimator instead of an iterative process. We assess the performance of the proposed methodology with simulation studies, and illustrate its utility on a real data example.

  13. Human genetics

    SciTech Connect

    Carlson, E.A.

    1984-01-01

    This text provides full and balanced coverage of the concepts requisite for a thorough understanding of human genetics. Applications to both the individual and society are integrated throughout the lively and personal narrative, and the essential principles of heredity are clearly presented to prepare students for informed participation in public controversies. High-interest, controversial topics, including recombinant DNA technology, oncogenes, embryo transfer, environmental mutagens and carcinogens, IQ testing, and eugenics encourage understanding of important social issues.

  14. Accurate On-Line Intervention Practices for Efficient Improvement of Reading Skills in Africa

    ERIC Educational Resources Information Center

    Marshall, Minda B.

    2016-01-01

    Lifelong learning is the only way to sustain proficient learning in a rapidly changing world. Knowledge and information are exploding across the globe. We need accurate ways to facilitate the process of drawing external factual information into an internal perceptive advantage from which to interpret and argue new information. Accurate and…

  15. 38 CFR 4.46 - Accurate measurement.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Accurate measurement. 4... RATING DISABILITIES Disability Ratings The Musculoskeletal System § 4.46 Accurate measurement. Accurate measurement of the length of stumps, excursion of joints, dimensions and location of scars with respect...

  16. 38 CFR 4.46 - Accurate measurement.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Accurate measurement. 4... RATING DISABILITIES Disability Ratings The Musculoskeletal System § 4.46 Accurate measurement. Accurate measurement of the length of stumps, excursion of joints, dimensions and location of scars with respect...

  17. 38 CFR 4.46 - Accurate measurement.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Accurate measurement. 4... RATING DISABILITIES Disability Ratings The Musculoskeletal System § 4.46 Accurate measurement. Accurate measurement of the length of stumps, excursion of joints, dimensions and location of scars with respect...

  18. 38 CFR 4.46 - Accurate measurement.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Accurate measurement. 4... RATING DISABILITIES Disability Ratings The Musculoskeletal System § 4.46 Accurate measurement. Accurate measurement of the length of stumps, excursion of joints, dimensions and location of scars with respect...

  19. 38 CFR 4.46 - Accurate measurement.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Accurate measurement. 4... RATING DISABILITIES Disability Ratings The Musculoskeletal System § 4.46 Accurate measurement. Accurate measurement of the length of stumps, excursion of joints, dimensions and location of scars with respect...

  20. Molecular genetics to inform spatial management in benthic invertebrate fisheries: a case study using the Australian greenlip abalone.

    PubMed

    Miller, K J; Mundy, C N; Mayfield, S

    2014-10-01

    Hierarchical sampling and subsequent microsatellite genotyping of >2300 Haliotis laevigata (greenlip abalone) from 19 locations distributed across five biogeographic regions have substantially advanced our knowledge of population structure and connectivity in this commercially important species. The study has found key differences in stock structure of H. laevigata compared with the sympatric and congeneric Haliotis rubra (blacklip abalone) and yielded valuable insights into the management of fisheries targeting species characterized by spatial structure at small scales (i.e. S-fisheries). As with H. rubra, H. laevigata comprise a series of metapopulations with strong self-recruitment. However, the spatial extent of H. laevigata metapopulations (reefal areas around 30 km(2) ; distances of up to 135 km are effective barriers to larval dispersal) was substantially greater than that identified for H. rubra (Miller et al. 2009). Differences in the dynamics and scale of population processes, even between congeneric haliotids as made evident in this study, imply that for S-fisheries, it is difficult to generalize about the potential consequences of life history commonalities. Consequently, species-specific management reflective of the population structure of the target species remains particularly important. This will likely require integration of information about stock structure and connectivity with data on life history and population dynamics to determine the necessary input (e.g. number of fishers, fishing effort) and output (e.g. minimum legal size, total allowable catch) controls to underpin their sustainable management.

  1. Firing up the nature/nurture controversy: bioethics and genetic determinism.

    PubMed

    de Melo-Martín, I

    2005-09-01

    It is argued here that bioethicists might inadvertently be promoting genetic determinism: the idea that genes alone determine human traits and behaviours. Discussions about genetic testing are used to exemplify how they might be doing so. Quite often bioethicists use clinical cases to support particular moral obligations or rights as if these cases were representative of the kind of information we can acquire about human diseases through genetic testing, when they are not. On other occasions, the clinical cases are presented in simplistic ways that portray genetic testing as yielding information more accurate than it actually is. It is concluded that, because of the problematic implications that the ideology of genetic determinism might have for individuals' wellbeing and for our public policies, bioethicists should be careful to present these issues in ways that do not promote questionable ideas about the causal role of genes in human diseases and behaviours.

  2. Genetic Testing in Hyperlipidemia.

    PubMed

    Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

    2016-03-01

    Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

  3. Genetic testing in hyperlipidemia.

    PubMed

    Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

    2015-05-01

    Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

  4. Development of a database system and image viewer to assist in the correlation of histopathologic features and digital image analysis with clinical and molecular genetic information.

    PubMed

    Yagi, Yukako; Riedlinger, Gregory; Xu, Xun; Nakamura, Akira; Levy, Bruce; Iafrate, A John; Mino-Kenudson, Mari; Klepeis, Veronica E

    2016-02-01

    Pathologists are required to integrate data from multiple sources when making a diagnosis. Furthermore, whole slide imaging (WSI) and next generation sequencing will escalate data size and complexity. Development of well-designed databases that can allow efficient navigation between multiple data types is necessary for both clinical and research purposes. We developed and evaluated an interactive, web-based database that integrates clinical, histologic, immunohistochemical and genetic information to aid in pathologic diagnosis and interpretation with nine lung adenocarcinoma cases. To minimize sectioning artifacts, representative blocks were serially sectioned using automated tissue sectioning (Kurabo Industries, Osaka Japan) and selected slides were stained by multiple techniques, (hematoxylin and eosin [H&E], immunohistochemistry [IHC] or fluorescence in situ hybridization [FISH]). Slides were digitized by WSI scanners. An interactive relational database was designed based on a list of proposed fields covering a variety of clinical, pathologic and molecular parameters. By focusing on the three main tasks of 1.) efficient management of textual information, 2.) effective viewing of all varieties of stained whole slide images (WSI), and 3.) assistance in evaluating WSI with computer-aided diagnosis, this database prototype shows great promise for multi-modality research and diagnosis.

  5. Genome-wide generation and use of informative intron-spanning and intron-length polymorphism markers for high-throughput genetic analysis in rice

    PubMed Central

    Badoni, Saurabh; Das, Sweta; Sayal, Yogesh K.; Gopalakrishnan, S.; Singh, Ashok K.; Rao, Atmakuri R.; Agarwal, Pinky; Parida, Swarup K.; Tyagi, Akhilesh K.

    2016-01-01

    We developed genome-wide 84634 ISM (intron-spanning marker) and 16510 InDel-fragment length polymorphism-based ILP (intron-length polymorphism) markers from genes physically mapped on 12 rice chromosomes. These genic markers revealed much higher amplification-efficiency (80%) and polymorphic-potential (66%) among rice accessions even by a cost-effective agarose gel-based assay. A wider level of functional molecular diversity (17–79%) and well-defined precise admixed genetic structure was assayed by 3052 genome-wide markers in a structured population of indica, japonica, aromatic and wild rice. Six major grain weight QTLs (11.9–21.6% phenotypic variation explained) were mapped on five rice chromosomes of a high-density (inter-marker distance: 0.98 cM) genetic linkage map (IR 64 x Sonasal) anchored with 2785 known/candidate gene-derived ISM and ILP markers. The designing of multiple ISM and ILP markers (2 to 4 markers/gene) in an individual gene will broaden the user-preference to select suitable primer combination for efficient assaying of functional allelic variation/diversity and realistic estimation of differential gene expression profiles among rice accessions. The genomic information generated in our study is made publicly accessible through a user-friendly web-resource, “Oryza ISM-ILP marker” database. The known/candidate gene-derived ISM and ILP markers can be enormously deployed to identify functionally relevant trait-associated molecular tags by optimal-resource expenses, leading towards genomics-assisted crop improvement in rice. PMID:27032371

  6. Genetic Analysis in Maize Foundation Parents with Mapping Population and Testcross Population: Ye478 Carried More Favorable Alleles and Using QTL Information Could Improve Foundation Parents

    PubMed Central

    Liu, Yinghong; Hou, Xianbin; Xiao, Qianlin; Yi, Qiang; Bian, Shaowei; Hu, Yufeng; Liu, Hanmei; Zhang, Junjie; Hao, Xiaoqin; Cheng, Weidong; Li, Yu; Huang, Yubi

    2016-01-01

    The development of maize foundation parents is an important part of genetics and breeding research, and applying new genetic information to produce foundation parents has been challenging. In this study, we focused on quantitative trait loci (QTLs) and general combining ability (GCA) of Ye478, a widely used foundation parent in China. We developed three sets of populations for QTL mapping and to analyze the GCA for some agronomic traits. The assessment of 15 traits resulted in the detection of 251 QTLs in six tested environments, with 119 QTLs identified through a joint analysis across all environments. Further, analyses revealed that most favorable alleles for plant type-related traits were from Ye478, and more than half of the favorable alleles for yield-related traits were from R08, another foundation parent used in southwestern China, suggesting that different types of foundation parents carried different favorable alleles. We observed that the GCA for most traits (e.g., plant height and 100-kernel weight) was maintained in the inbred lines descended from the foundation parents. Additionally, the continuous improvement in the GCA of the descendants of the foundation parents was consistent with the main trend in maize breeding programs. We identified three significant genomic regions that were highly conserved in three Ye478 descendants, including the stable QTL for plant height. The GCA for the traits in the F7 generation revealed that the QTLs for the given traits per se were affected by additive effects in the same way in different populations. PMID:27721817

  7. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

    PubMed

    Hastings, Ros; de Wert, Guido; Fowler, Brian; Krawczak, Michael; Vermeulen, Eric; Bakker, Egbert; Borry, Pascal; Dondorp, Wybo; Nijsingh, Niels; Barton, David; Schmidtke, Jörg; van El, Carla G; Vermeesch, Joris; Stol, Yrrah; Carmen Howard, Heidi; Cornel, Martina C

    2012-09-01

    The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research.

  8. New Genetics

    MedlinePlus

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  9. Genetic Disorders

    MedlinePlus

    ... Management Education & Events Advocacy For Patients About ACOG Genetic Disorders Home For Patients Search FAQs Genetic Disorders ... Spanish Genetic Disorders FAQ094, April 2014 PDF Format Genetic Disorders Pregnancy What are genes? What are chromosomes? ...

  10. Accurate lineshape spectroscopy and the Boltzmann constant

    PubMed Central

    Truong, G.-W.; Anstie, J. D.; May, E. F.; Stace, T. M.; Luiten, A. N.

    2015-01-01

    Spectroscopy has an illustrious history delivering serendipitous discoveries and providing a stringent testbed for new physical predictions, including applications from trace materials detection, to understanding the atmospheres of stars and planets, and even constraining cosmological models. Reaching fundamental-noise limits permits optimal extraction of spectroscopic information from an absorption measurement. Here, we demonstrate a quantum-limited spectrometer that delivers high-precision measurements of the absorption lineshape. These measurements yield a very accurate measurement of the excited-state (6P1/2) hyperfine splitting in Cs, and reveals a breakdown in the well-known Voigt spectral profile. We develop a theoretical model that accounts for this breakdown, explaining the observations to within the shot-noise limit. Our model enables us to infer the thermal velocity dispersion of the Cs vapour with an uncertainty of 35 p.p.m. within an hour. This allows us to determine a value for Boltzmann's constant with a precision of 6 p.p.m., and an uncertainty of 71 p.p.m. PMID:26465085

  11. Accurate upper body rehabilitation system using kinect.

    PubMed

    Sinha, Sanjana; Bhowmick, Brojeshwar; Chakravarty, Kingshuk; Sinha, Aniruddha; Das, Abhijit

    2016-08-01

    The growing importance of Kinect as a tool for clinical assessment and rehabilitation is due to its portability, low cost and markerless system for human motion capture. However, the accuracy of Kinect in measuring three-dimensional body joint center locations often fails to meet clinical standards of accuracy when compared to marker-based motion capture systems such as Vicon. The length of the body segment connecting any two joints, measured as the distance between three-dimensional Kinect skeleton joint coordinates, has been observed to vary with time. The orientation of the line connecting adjoining Kinect skeletal coordinates has also been seen to differ from the actual orientation of the physical body segment. Hence we have proposed an optimization method that utilizes Kinect Depth and RGB information to search for the joint center location that satisfies constraints on body segment length and as well as orientation. An experimental study have been carried out on ten healthy participants performing upper body range of motion exercises. The results report 72% reduction in body segment length variance and 2° improvement in Range of Motion (ROM) angle hence enabling to more accurate measurements for upper limb exercises.

  12. Accurate, reproducible measurement of blood pressure.

    PubMed Central

    Campbell, N R; Chockalingam, A; Fodor, J G; McKay, D W

    1990-01-01

    The diagnosis of mild hypertension and the treatment of hypertension require accurate measurement of blood pressure. Blood pressure readings are altered by various factors that influence the patient, the techniques used and the accuracy of the sphygmomanometer. The variability of readings can be reduced if informed patients prepare in advance by emptying their bladder and bowel, by avoiding over-the-counter vasoactive drugs the day of measurement and by avoiding exposure to cold, caffeine consumption, smoking and physical exertion within half an hour before measurement. The use of standardized techniques to measure blood pressure will help to avoid large systematic errors. Poor technique can account for differences in readings of more than 15 mm Hg and ultimately misdiagnosis. Most of the recommended procedures are simple and, when routinely incorporated into clinical practice, require little additional time. The equipment must be appropriate and in good condition. Physicians should have a suitable selection of cuff sizes readily available; the use of the correct cuff size is essential to minimize systematic errors in blood pressure measurement. Semiannual calibration of aneroid sphygmomanometers and annual inspection of mercury sphygmomanometers and blood pressure cuffs are recommended. We review the methods recommended for measuring blood pressure and discuss the factors known to produce large differences in blood pressure readings. PMID:2192791

  13. Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research

    SciTech Connect

    Baker, C.

    1999-05-31

    Your Genes, Your Choices provides accurate information about the ethical, legal, and social implications of the Human Genome Project and genetic research in an easy-to-read style and format. Each chapter in the book begins with a brief vignette, which introduces an issue within a human story, and raises a question for the reader to think about as the basic science and information are presented in the rest of the chapter.

  14. Use of "Journal of Citation Reports" for Serials Management in Research Libraries: An Investigation of the Effect of Self-Citation on Journal Rankings in Library and Information Science and Genetics.

    ERIC Educational Resources Information Center

    Nisonger, Thomas E.

    2000-01-01

    Explores the use of "Journal Citation Reports" (JCR) for journal management in academic libraries. Outlines the advantages and disadvantages of using JCR citation data and researches the impact of journal self-citation on JCR rankings of library and information science and genetics journals. (Contains 41 references.) (Author/LRW)

  15. Medical genetics

    SciTech Connect

    Nora, J.J.; Fraser, F.C.

    1989-01-01

    This book presents a discussion of medical genetics for the practitioner treating or counseling patients with genetic disease. It includes a discussion of the relationship of heredity and diseases, the chromosomal basis for heredity, gene frequencies, and genetics of development and maldevelopment. The authors also focus on teratology, somatic cell genetics, genetics and cancer, genetics of behavior.

  16. NCI Dictionary of Genetics Terms

    Cancer.gov

    A dictionary of more than 150 genetics-related terms written for healthcare professionals, developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  17. Genetics Home Reference: bipolar disorder

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions bipolar disorder bipolar disorder Enable Javascript to view the expand/collapse boxes. ... bipolar affective psychosis bipolar spectrum disorder depression, bipolar manic depressive illness Related Information How are genetic conditions and genes ...

  18. Genetics Home Reference: Muckle-Wells syndrome

    MedlinePlus

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness General Information from MedlinePlus ( ...

  19. A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data.

    PubMed

    Bjelland, Douglas W; Lingala, Uday; Patel, Piyush S; Jones, Matt; Keller, Matthew C

    2017-02-08

    Identical by descent (IBD) segments are used to understand a number of fundamental issues in genetics. IBD segments are typically detected using long stretches of identical alleles between haplotypes in phased, whole-genome SNP data. Phase or SNP call errors in genomic data can degrade accuracy of IBD detection and lead to false-positive/negative calls and to under/overextension of true IBD segments. Furthermore, the number of comparisons increases quadratically with sample size, requiring high computational efficiency. We developed a new IBD segment detection program, FISHR (Find IBD Shared Haplotypes Rapidly), in an attempt to accurately detect IBD segments and to better estimate their endpoints using an algorithm that is fast enough to be deployed on very large whole-genome SNP data sets. We compared the performance of FISHR to three leading IBD segment detection programs: GERMLINE, refined IBD, and HaploScore. Using simulated and real genomic sequence data, we show that FISHR is slightly more accurate than all programs at detecting long (>3 cm) IBD segments but slightly less accurate than refined IBD at detecting short (~1 cm) IBD segments. More centrally, FISHR outperforms all programs in determining the true endpoints of IBD segments, which is crucial for several applications of IBD information. FISHR takes two to three times longer than GERMLINE to run, whereas both GERMLINE and FISHR were orders of magnitude faster than refined IBD and HaploScore. Overall, FISHR provides accurate IBD detection in unrelated individuals and is computationally efficient enough to be utilized on large SNP data sets >60 000 individuals.European Journal of Human Genetics advance online publication, 8 February 2017; doi:10.1038/ejhg.2017.6.

  20. Accurate inference of local phased ancestry of modern admixed populations.

    PubMed

    Ma, Yamin; Zhao, Jian; Wong, Jian-Syuan; Ma, Li; Li, Wenzhi; Fu, Guoxing; Xu, Wei; Zhang, Kui; Kittles, Rick A; Li, Yun; Song, Qing

    2014-07-23

    Population stratification is a growing concern in genetic-association studies. Averaged ancestry at the genome level (global ancestry) is insufficient for detecting the population substructures and correcting population stratifications in association studies. Local and phase stratification are needed for human genetic studies, but current technologies cannot be applied on the entire genome data due to various technical caveats. Here we developed a novel approach (aMAP, ancestry of Modern Admixed Populations) for inferring local phased ancestry. It took about 3 seconds on a desktop computer to finish a local ancestry analysis for each human genome with 1.4-million SNPs. This method also exhibits the scalability to larger datasets with respect to the number of SNPs, the number of samples, and the size of reference panels. It can detect the lack of the proxy of reference panels. The accuracy was 99.4%. The aMAP software has a capacity for analyzing 6-way admixed individuals. As the biomedical community continues to expand its efforts to increase the representation of diverse populations, and as the number of large whole-genome sequence datasets continues to grow rapidly, there is an increasing demand on rapid and accurate local ancestry analysis in genetics, pharmacogenomics, population genetics, and clinical diagnosis.

  1. Safeguarding genetic information in Drosophila.

    PubMed

    Su, Tin Tin

    2011-12-01

    Eukaryotic cells employ a plethora of conserved proteins and mechanisms to ensure genome integrity. In metazoa, these mechanisms must operate in the context of organism development. This mini-review highlights two emerging features of DNA damage responses in Drosophila: a crosstalk between DNA damage responses and components of the spindle assembly checkpoint, and increasing evidence for the effect of DNA damage on the developmental program at multiple points during the Drosophila life cycle.

  2. Estimating quantitative genetic parameters in wild populations: a comparison of pedigree and genomic approaches.

    PubMed

    Bérénos, Camillo; Ellis, Philip A; Pilkington, Jill G; Pemberton, Josephine M

    2014-07-01

    The estimation of quantitative genetic parameters in wild populations is generally limited by the accuracy and completeness of the available pedigree information. Using relatedness at genomewide markers can potentially remove this limitation and lead to less biased and more precise estimates. We estimated heritability, maternal genetic effects and genetic correlations for body size traits in an unmanaged long-term study population of Soay sheep on St Kilda using three increasingly complete and accurate estimates of relatedness: (i) Pedigree 1, using observation-derived maternal links and microsatellite-derived paternal links; (ii) Pedigree 2, using SNP-derived assignment of both maternity and paternity; and (iii) whole-genome relatedness at 37 037 autosomal SNPs. In initial analyses, heritability estimates were strikingly similar for all three methods, while standard errors were systematically lower in analyses based on Pedigree 2 and genomic relatedness. Genetic correlations were generally strong, differed little between the three estimates of relatedness and the standard errors declined only very slightly with improved relatedness information. When partitioning maternal effects into separate genetic and environmental components, maternal genetic effects found in juvenile traits increased substantially across the three relatedness estimates. Heritability declined compared to parallel models where only a maternal environment effect was fitted, suggesting that maternal genetic effects are confounded with direct genetic effects and that more accurate estimates of relatedness were better able to separate maternal genetic effects from direct genetic effects. We found that the heritability captured by SNP markers asymptoted at about half the SNPs available, suggesting that denser marker panels are not necessarily required for precise and unbiased heritability estimates. Finally, we present guidelines for the use of genomic relatedness in future quantitative genetics

  3. Genetic toxicology: web resources.

    PubMed

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  4. PCR in forensic genetics.

    PubMed

    Morling, Niels

    2009-04-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics.

  5. The synthesis paradigm in genetics.

    PubMed

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  6. Genetics and genomics of pulmonary arterial hypertension.

    PubMed

    Soubrier, Florent; Chung, Wendy K; Machado, Rajiv; Grünig, Ekkehard; Aldred, Micheala; Geraci, Mark; Loyd, James E; Elliott, C Gregory; Trembath, Richard C; Newman, John H; Humbert, Marc

    2013-12-24

    Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the identification of bone morphogenetic protein receptor type 2 (BMPR2) as the major predisposing gene and activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) as the major gene when PAH is associated with hereditary hemorrhagic telangiectasia. The mutation detection rate for the known genes is approximately 75% in familial PAH, but the mutation shortfall remains unexplained even after careful molecular investigation of these genes. To identify additional genetic variants predisposing to PAH, investigators harnessed the power of next-generation sequencing to successfully identify additional genes that will be described in this report. Furthermore, common genetic predisposing factors for PAH can be identified by genome-wide association studies and are detailed in this paper. The careful study of families and routine genetic diagnosis facilitated natural history studies based on large registries of PAH patients to be set up in different countries. These longitudinal or cross-sectional studies permitted the clinical characterization of PAH in mutation carriers to be accurately described. The availability of molecular genetic diagnosis has opened up a new field for patient care, including genetic counseling for a severe disease, taking into account that the major predisposing gene has a highly variable penetrance between families. Molecular information can be drawn from the genomic study of affected tissues in PAH, in particular, pulmonary vascular tissues and cells, to gain insight into the mechanisms leading to the development of the disease. High-throughput genomic techniques, on the basis of next-generation sequencing, now allow the accurate quantification and analysis of ribonucleic acid, species, including micro-ribonucleic acids, and allow for a genome-wide investigation of epigenetic or

  7. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    SciTech Connect

    Rothstein, M.A.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  8. Nonexposure Accurate Location K-Anonymity Algorithm in LBS

    PubMed Central

    2014-01-01

    This paper tackles location privacy protection in current location-based services (LBS) where mobile users have to report their exact location information to an LBS provider in order to obtain their desired services. Location cloaking has been proposed and well studied to protect user privacy. It blurs the user's accurate coordinate and replaces it with a well-shaped cloaked region. However, to obtain such an anonymous spatial region (ASR), nearly all existent cloaking algorithms require knowing the accurate locations of all users. Therefore, location cloaking without exposing the user's accurate location to any party is urgently needed. In this paper, we present such two nonexposure accurate location cloaking algorithms. They are designed for K-anonymity, and cloaking is performed based on the identifications (IDs) of the grid areas which were reported by all the users, instead of directly on their accurate coordinates. Experimental results show that our algorithms are more secure than the existent cloaking algorithms, need not have all the users reporting their locations all the time, and can generate smaller ASR. PMID:24605060

  9. Nonexposure accurate location K-anonymity algorithm in LBS.

    PubMed

    Jia, Jinying; Zhang, Fengli

    2014-01-01

    This paper tackles location privacy protection in current location-based services (LBS) where mobile users have to report their exact location information to an LBS provider in order to obtain their desired services. Location cloaking has been proposed and well studied to protect user privacy. It blurs the user's accurate coordinate and replaces it with a well-shaped cloaked region. However, to obtain such an anonymous spatial region (ASR), nearly all existent cloaking algorithms require knowing the accurate locations of all users. Therefore, location cloaking without exposing the user's accurate location to any party is urgently needed. In this paper, we present such two nonexposure accurate location cloaking algorithms. They are designed for K-anonymity, and cloaking is performed based on the identifications (IDs) of the grid areas which were reported by all the users, instead of directly on their accurate coordinates. Experimental results show that our algorithms are more secure than the existent cloaking algorithms, need not have all the users reporting their locations all the time, and can generate smaller ASR.

  10. Medical genetics

    SciTech Connect

    Jorde, L.B.; Carey, J.C.; White, R.L.

    1995-10-01

    This book on the subject of medical genetics is a textbook aimed at a very broad audience: principally, medical students, nursing students, graduate, and undergraduate students. The book is actually a primer of general genetics as applied to humans and provides a well-balanced introduction to the scientific and clinical basis of human genetics. The twelve chapters include: Introduction, Basic Cell Biology, Genetic Variation, Autosomal Dominant and Recessive Inheritance, Sex-linked and Mitochondrial Inheritance, Clinical Cytogenetics, Gene Mapping, Immunogenetics, Cancer Genetics, Multifactorial Inheritance and Common Disease, Genetic Screening, Genetic Diagnosis and Gene Therapy, and Clinical Genetics and Genetic Counseling.

  11. What Are the Risks and Limitations of Genetic Testing?

    MedlinePlus

    ... testing? What are the risks and limitations of genetic testing? The physical risks associated with most genetic ... more information about the risks and limitations of genetic testing: The American College of Medical Genetics and ...

  12. What Do the Results of Genetic Tests Mean?

    MedlinePlus

    ... genetic tests mean? What do the results of genetic tests mean? The results of genetic tests are ... type of result. For more information about interpreting genetic test results: The National Cancer Institute fact sheet ...

  13. Genetic algorithms

    NASA Technical Reports Server (NTRS)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  14. Problems and their solutions in genetic counseling education in Japan.

    PubMed

    Kohzaki, Hidetsugu

    2014-01-01

    With the expansion of novel chromosome testing, a career as a certified genetic counselor has been gathering a lot of attention. However, few people certified as a genetic counselor after completing postgraduate courses are able to find employment as a genetic counselor, and their salaries are quite low. It is also questionable whether or not such newly graduated genetic counselors, who have limited life experience and knowledge, can fully understand family issues and properly perform counseling sessions. To address these issues, a wide range of education and training may be necessary. In this study, we examined current problems in genetic counseling education in Japan, and proposed effective measures to address these problems. Toward creating a new society, we are currently establishing a national qualification system and cultivating qualified professionals capable of providing patients with accurate information on chromosome and genetic testing. In addition, these professionals could encourage younger generations to have an interest in genetic counseling. I also hope that these professionals will work not only in Japan but all over the world.

  15. Genetics Home Reference: macrozoospermia

    MedlinePlus

    ... Encyclopedia: Semen Analysis MedlinePlus Health Topic: Assisted Reproductive Technology General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  16. Genetics Home Reference: globozoospermia

    MedlinePlus

    ... Encyclopedia: Semen Analysis MedlinePlus Health Topic: Assisted Reproductive Technology General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  17. Genetics Home Reference: alkaptonuria

    MedlinePlus

    ... homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks ... Resources MedlinePlus (2 links) Encyclopedia: Alkaptonuria Health Topic: Amino Acid Metabolism Disorders Genetic and Rare Diseases Information Center ( ...

  18. Genetics Home Reference: histidinemia

    MedlinePlus

    ... condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Newborn Screening Genetic and ...

  19. Genetics Home Reference: hyperlysinemia

    MedlinePlus

    ... condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Newborn Screening Genetic and ...

  20. Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.

    PubMed

    Pavlicek, Adam; House, Reniqua; Gentles, Andrew J; Jurka, Jerzy; Morrow, Bernice E

    2005-11-01

    Velo-cardio-facial syndrome/DiGeorge syndrome results from unequal crossing-over events between two 240-kb low-copy repeats termed LCR22 (LCR22-2 and LCR22-4) on Chromosome 22q11.2, comprised of modules, each of which are >99% identical in sequence. To delineate regions in the LCR22s that might contain hotspots for 22q11.2 rearrangements, we scanned the interval for increased rates of recombination with the hypothesis that these regions might be more prone to breakage. We generated an algorithm to detect sites of altered recombination by searching for single nucleotide polymorphic positions in BAC clones from different libraries mapped to LCR22-2 and LCR22-4. This method distinguishes single nucleotide polymorphisms from paralogous sequence variants and complex polymorphic positions. Sites of shared polymorphism are considered potential sites of gene conversion or double cross-over between the two LCR22s. We found an inverse correlation between regions of paralogous sequence variants that are unique to a given position within one LCR22 and clusters of shared polymorphic sites, suggesting that these clusters depict altered recombination and not remnants of ancestral single nucleotide polymorphisms. We postulate that most shared polymorphic sites are products of past transfers of DNA information between the LCR22s, suggesting that frequent traffic of genetic material may induce genomic instability in the two LCR22s. We also found that gaps up to 1.5 kb long can be transferred between LCR22s.

  1. Mill profiler machines soft materials accurately

    NASA Technical Reports Server (NTRS)

    Rauschl, J. A.

    1966-01-01

    Mill profiler machines bevels, slots, and grooves in soft materials, such as styrofoam phenolic-filled cores, to any desired thickness. A single operator can accurately control cutting depths in contour or straight line work.

  2. Genetic Testing: MedlinePlus Health Topic

    MedlinePlus

    ... Reference Desk Genetic Testing Registry (National Center for Biotechnology Information) Genomics and Health Impact Update (Centers for Disease Control and Prevention) Glossary (National Center for Biotechnology Information) Talking Glossary of Genetic Terms (National Human ...

  3. Genetics Home Reference: cerebrotendinous xanthomatosis

    MedlinePlus

    ... as substances called bile alcohols. Cholestanol and bile alcohols are increased in the blood, while blood cholesterol levels are typically ... Disorders Genetic and Rare Diseases Information Center (1 ...

  4. Computational Time-Accurate Body Movement: Methodology, Validation, and Application

    DTIC Science & Technology

    1995-10-01

    used that had a leading-edge sweep angle of 45 deg and a NACA 64A010 symmetrical airfoil section. A cross section of the pylon is a symmetrical...25 2. Information Flow for the Time-Accurate Store Trajectory Prediction Process . . . . . . . . . 26 3. Pitch Rates for NACA -0012 Airfoil...section are comparisons of the computational results to data for a NACA -0012 airfoil following a predefined pitching motion. Validation of the

  5. Genetics Home Reference: hereditary myopathy with early respiratory failure

    MedlinePlus

    ... descent, and in at least one individual from Italy. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes HMERF can be caused by a ...

  6. Genetic variability and differentiation among populations of the Azorean endemic gymnosperm Juniperus brevifolia: baseline information for a conservation and restoration perspective.

    PubMed

    Silva, Luís; Elias, Rui B; Moura, Mónica; Meimberg, Harald; Dias, Eduardo

    2011-12-01

    The Azorean endemic gymnosperm Juniperus brevifolia (Seub.) Antoine is a top priority species for conservation in Macaronesia, based on its ecological significance in natural plant communities. To evaluate genetic variability and differentiation among J. brevifolia populations from the Azorean archipelago, we studied 15 ISSR and 15 RAPD markers in 178 individuals from 18 populations. The average number of polymorphic bands per population was 65 for both ISSR and RAPD. The majority of genetic variability was found within populations and among populations within islands, and this partitioning of variability was confirmed by AMOVA. The large majority of population pairwise F(ST) values were above 0.3 and below 0.6. The degree of population genetic differentiation in J. brevifolia was relatively high compared with other species, including Juniperus spp. The genetic differentiation among populations suggests that provenance should be considered when formulating augmentation or reintroduction strategies.

  7. Genetics of Sesame Street Characters.

    ERIC Educational Resources Information Center

    Raye, Susan

    2001-01-01

    Teaches genetics and inheritance using the characters from Sesame Street. Asks students to create a gene map of their favorite character and determine those genes passing to the next generation. Includes a genetics activity sheet and genetic information on the characters. (YDS)

  8. [Brazilian criminal law and genetics].

    PubMed

    de Souza, P V

    1999-01-01

    This article analyses the Brasilia criminal regulation on genetic. Act No. 8.974/95 is examined because it regulates some criminal typologies on genetic engineering and assisted reproduction. Moreover, it presents information about the Act Project No. 149/97, on genetic discrimination.

  9. Referring patients for a medical genetics consultation and genetic counseling.

    PubMed

    Sutton, Reid

    2011-01-01

    Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk.

  10. [The genetics of thrombosis in cancer].

    PubMed

    Soria, José Manuel; López, Sonia

    2015-01-01

    Venous thromboembolism (VTE) is a multifactorial and complex disease in which the interaction of genetic factors (estimated at 60%) and environmental factors (e.g., the use of oral contraceptives, pregnancy, immobility and cancer) determine the risk of thrombosis for each individual. In particular, the association between thrombosis and cancer is well established. Approximately 20% of patients with cancer develop a thromboembolic event over the course of the natural history of the tumor process, with thrombosis being the second leading cause of death for these patients. One of the greatest challenges currently facing the field of oncology is the identification of patients at high risk of VTE who can benefit from thromboprophylaxis. Currently, there is a VTE risk prediction model for patients with cancer (the Khorana risk score); however, its ability to identify patients at high risk is very low. It is important to note that this score, which is based on five clinical parameters, ignores the genetic variability associated with VTE risk. In this article, we present the preliminary results of the Oncothromb study, whose objective is to develop an individual VTE risk prediction model for patients with cancer who are treated with outpatient chemotherapy. Our model includes the clinical and genetic data on each patient (Thrombo inCode(®) genetic profile). Only by integrating multiple layers of biological information (clinical, plasmatic and genetic) we could obtain models that provide accurate information as to which patients are at high risk of developing a thromboembolic event associated with cancer so as to take appropriate prophylactic measures.

  11. Recovery of Native Genetic Background in Admixed Populations Using Haplotypes, Phenotypes, and Pedigree Information – Using Cika Cattle as a Case Breed

    PubMed Central

    Simčič, Mojca; Smetko, Anamarija; Sölkner, Johann; Seichter, Doris; Gorjanc, Gregor; Kompan, Dragomir; Medugorac, Ivica

    2015-01-01

    The aim of this study was to obtain unbiased estimates of the diversity parameters, the population history, and the degree of admixture in Cika cattle which represents the local admixed breeds at risk of extinction undergoing challenging conservation programs. Genetic analyses were performed on the genome-wide Single Nucleotide Polymorphism (SNP) Illumina Bovine SNP50 array data of 76 Cika animals and 531 animals from 14 reference populations. To obtain unbiased estimates we used short haplotypes spanning four markers instead of single SNPs to avoid an ascertainment bias of the BovineSNP50 array. Genome-wide haplotypes combined with partial pedigree and type trait classification show the potential to improve identification of purebred animals with a low degree of admixture. Phylogenetic analyses demonstrated unique genetic identity of Cika animals. Genetic distance matrix presented by rooted Neighbour-Net suggested long and broad phylogenetic connection between Cika and Pinzgauer. Unsupervised clustering performed by the admixture analysis and two-dimensional presentation of the genetic distances between individuals also suggest Cika is a distinct breed despite being similar in appearance to Pinzgauer. Animals identified as the most purebred could be used as a nucleus for a recovery of the native genetic background in the current admixed population. The results show that local well-adapted strains, which have never been intensively managed and differentiated into specific breeds, exhibit large haplotype diversity. They suggest a conservation and recovery approach that does not rely exclusively on the search for the original native genetic background but rather on the identification and removal of common introgressed haplotypes would be more powerful. Successful implementation of such an approach should be based on combining phenotype, pedigree, and genome-wide haplotype data of the breed of interest and a spectrum of reference breeds which potentially have had

  12. Recovery of native genetic background in admixed populations using haplotypes, phenotypes, and pedigree information--using Cika cattle as a case breed.

    PubMed

    Simčič, Mojca; Smetko, Anamarija; Sölkner, Johann; Seichter, Doris; Gorjanc, Gregor; Kompan, Dragomir; Medugorac, Ivica

    2015-01-01

    The aim of this study was to obtain unbiased estimates of the diversity parameters, the population history, and the degree of admixture in Cika cattle which represents the local admixed breeds at risk of extinction undergoing challenging conservation programs. Genetic analyses were performed on the genome-wide Single Nucleotide Polymorphism (SNP) Illumina Bovine SNP50 array data of 76 Cika animals and 531 animals from 14 reference populations. To obtain unbiased estimates we used short haplotypes spanning four markers instead of single SNPs to avoid an ascertainment bias of the BovineSNP50 array. Genome-wide haplotypes combined with partial pedigree and type trait classification show the potential to improve identification of purebred animals with a low degree of admixture. Phylogenetic analyses demonstrated unique genetic identity of Cika animals. Genetic distance matrix presented by rooted Neighbour-Net suggested long and broad phylogenetic connection between Cika and Pinzgauer. Unsupervised clustering performed by the admixture analysis and two-dimensional presentation of the genetic distances between individuals also suggest Cika is a distinct breed despite being similar in appearance to Pinzgauer. Animals identified as the most purebred could be used as a nucleus for a recovery of the native genetic background in the current admixed population. The results show that local well-adapted strains, which have never been intensively managed and differentiated into specific breeds, exhibit large haplotype diversity. They suggest a conservation and recovery approach that does not rely exclusively on the search for the original native genetic background but rather on the identification and removal of common introgressed haplotypes would be more powerful. Successful implementation of such an approach should be based on combining phenotype, pedigree, and genome-wide haplotype data of the breed of interest and a spectrum of reference breeds which potentially have had

  13. Communicating risk in prenatal genetic testing.

    PubMed

    Gates, Elena A

    2004-01-01

    Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.

  14. Genetics Home Reference: Farber lipogranulomatosis

    MedlinePlus

    ... breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells ... Additional Information & Resources MedlinePlus (1 link) Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  15. Genetics Home Reference: hereditary angioedema

    MedlinePlus

    ... 000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare. Related Information What information about a genetic condition can statistics ...

  16. Genetics Home Reference: tetrahydrobiopterin deficiency

    MedlinePlus

    ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Serum Phenylalanine Screening Health Topic: Newborn Screening Health Topic: Phenylketonuria Genetic and Rare Diseases Information Center (1 link) Tetrahydrobiopterin deficiency Educational Resources ( ...

  17. Genetics Home Reference: Lowe syndrome

    MedlinePlus

    ... named? Additional Information & Resources MedlinePlus (5 links) Encyclopedia: Congenital Cataract Encyclopedia: Fanconi Syndrome Health Topic: Developmental Disabilities Health Topic: Eye Diseases Health Topic: Kidney Diseases Genetic and Rare Diseases Information Center (1 link) ...

  18. The Synthesis Paradigm in Genetics

    PubMed Central

    Rice, William R.

    2014-01-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics—and other fields of biology—are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous “-omics” data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time. PMID:24496401

  19. Genetics and genomics of dilated cardiomyopathy and systolic heart failure.

    PubMed

    Tayal, Upasana; Prasad, Sanjay; Cook, Stuart A

    2017-02-22

    Heart failure is a major health burden, affecting 40 million people globally. One of the main causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global indication for heart transplantation. Our understanding of the genetic basis of both DCM and systolic heart failure has improved in recent years with the application of next-generation sequencing and genome-wide association studies (GWAS). This has enabled rapid sequencing at scale, leading to the discovery of many novel rare variants in DCM and of common variants in both systolic heart failure and DCM. Identifying rare and common genetic variants contributing to systolic heart failure has been challenging given its diverse and multiple etiologies. DCM, however, although rarer, is a reasonably specific and well-defined condition, leading to the identification of many rare genetic variants. Truncating variants in titin represent the single largest genetic cause of DCM. Here, we review the progress and challenges in the detection of rare and common variants in DCM and systolic heart failure, and the particular challenges in accurate and informed variant interpretation, and in understanding the effects of these variants. We also discuss how our increasing genetic knowledge is changing clinical management. Harnessing genetic data and translating it to improve risk stratification and the development of novel therapeutics represents a major challenge and unmet critical need for patients with heart failure and their families.

  20. Accurate pointing of tungsten welding electrodes

    NASA Technical Reports Server (NTRS)

    Ziegelmeier, P.

    1971-01-01

    Thoriated-tungsten is pointed accurately and quickly by using sodium nitrite. Point produced is smooth and no effort is necessary to hold the tungsten rod concentric. The chemically produced point can be used several times longer than ground points. This method reduces time and cost of preparing tungsten electrodes.

  1. Robust and Accurate Seismic(acoustic) Ray Tracer

    NASA Astrophysics Data System (ADS)

    Debski, W.; Ando, M.

    Recent development of high resolution seismic tomography as well as a need for a high precision seismic (acoustic) source locations calls for robust and very precise numeri- cal methods of an estimation of seismic (acoustic) travel times and ray paths. Here we present a method based on a parametrisation of the ray path by a series of the Cheby- shev polynomials. This pseudo-spectral method, combined with the accurate Gauss- Lobbato integration procedure allows to reach a very high relative travel time accu- racy t/t 10-7. At the same time use of the Genetic Algorithm based optimizer (Evolutionary Algorithm) assures an extreme robustness which allows the method to be used in complicated 3D geological structures like multi-fault areas, mines, or real engineering applications, constructions, etc.

  2. The Genetic Privacy Act and commentary

    SciTech Connect

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. Therefore, to effectively protect genetic privacy unauthorized collection and analysis of individually identifiable DNA must be prohibited. As a result, the premise of the Act is that no stranger should have or control identifiable DNA samples or genetic information about an individual unless that individual specifically authorizes the collection of DNA samples for the purpose of genetic analysis, authorized the creation of that private information, and has access to and control over the dissemination of that information.

  3. Light Field Imaging Based Accurate Image Specular Highlight Removal

    PubMed Central

    Wang, Haoqian; Xu, Chenxue; Wang, Xingzheng; Zhang, Yongbing; Peng, Bo

    2016-01-01

    Specular reflection removal is indispensable to many computer vision tasks. However, most existing methods fail or degrade in complex real scenarios for their individual drawbacks. Benefiting from the light field imaging technology, this paper proposes a novel and accurate approach to remove specularity and improve image quality. We first capture images with specularity by the light field camera (Lytro ILLUM). After accurately estimating the image depth, a simple and concise threshold strategy is adopted to cluster the specular pixels into “unsaturated” and “saturated” category. Finally, a color variance analysis of multiple views and a local color refinement are individually conducted on the two categories to recover diffuse color information. Experimental evaluation by comparison with existed methods based on our light field dataset together with Stanford light field archive verifies the effectiveness of our proposed algorithm. PMID:27253083

  4. Accurate Development of Thermal Neutron Scattering Cross Section Libraries

    SciTech Connect

    Hawari, Ayman; Dunn, Michael

    2014-06-10

    The objective of this project is to develop a holistic (fundamental and accurate) approach for generating thermal neutron scattering cross section libraries for a collection of important enutron moderators and reflectors. The primary components of this approach are the physcial accuracy and completeness of the generated data libraries. Consequently, for the first time, thermal neutron scattering cross section data libraries will be generated that are based on accurate theoretical models, that are carefully benchmarked against experimental and computational data, and that contain complete covariance information that can be used in propagating the data uncertainties through the various components of the nuclear design and execution process. To achieve this objective, computational and experimental investigations will be performed on a carefully selected subset of materials that play a key role in all stages of the nuclear fuel cycle.

  5. Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.

    PubMed

    Sanborn, Erica; Patterson, Annette R

    2014-08-01

    Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty. Currently, the Accreditation Council for Genetic Counseling (ACGC) only minimally includes disability training in their competencies for genetic counselors, and in their accreditation requirements for training programs. In an attempt to describe current practice, this article details two studies that assess disability training in ABGC-accredited genetic counseling programs. Results from these studies demonstrate that experience with disability is not required by the majority of programs prior to matriculation. Though most program directors agree on the importance of including disability training in the curriculum, there is wide variability in the amount and types of training students receive. Hours dedicated to disability exposure among programs ranged from 10 to 600 hours. Eighty-five percent of program directors surveyed agree that skills for addressing disability should be added to the core competencies. Establishing a set of disability competencies would help to ensure that all graduates have the skills necessary to provide patients with an accurate understanding of disability that facilitates informed decision-making.

  6. Efficient and Accurate Indoor Localization Using Landmark Graphs

    NASA Astrophysics Data System (ADS)

    Gu, F.; Kealy, A.; Khoshelham, K.; Shang, J.

    2016-06-01

    Indoor localization is important for a variety of applications such as location-based services, mobile social networks, and emergency response. Fusing spatial information is an effective way to achieve accurate indoor localization with little or with no need for extra hardware. However, existing indoor localization methods that make use of spatial information are either too computationally expensive or too sensitive to the completeness of landmark detection. In this paper, we solve this problem by using the proposed landmark graph. The landmark graph is a directed graph where nodes are landmarks (e.g., doors, staircases, and turns) and edges are accessible paths with heading information. We compared the proposed method with two common Dead Reckoning (DR)-based methods (namely, Compass + Accelerometer + Landmarks and Gyroscope + Accelerometer + Landmarks) by a series of experiments. Experimental results show that the proposed method can achieve 73% accuracy with a positioning error less than 2.5 meters, which outperforms the other two DR-based methods.

  7. Building Capacity in Understanding Foundational Biology Concepts: A K-12 Learning Progression in Genetics Informed by Research on Children's Thinking and Learning

    ERIC Educational Resources Information Center

    Elmesky, Rowhea

    2013-01-01

    This article describes the substance, structure, and rationale of a learning progression in genetics spanning kindergarten through twelfth grade (K-12). The learning progression is designed to build a foundation towards understanding protein structure and activity and should be viewed as one possible pathway to understanding concepts of genetics…

  8. Building Capacity in Understanding Foundational Biology Concepts: A K-12 Learning Progression in Genetics Informed by Research on Children's Thinking and Learning

    NASA Astrophysics Data System (ADS)

    Elmesky, Rowhea

    2013-06-01

    This article describes the substance, structure, and rationale of a learning progression in genetics spanning kindergarten through twelfth grade (K-12). The learning progression is designed to build a foundation towards understanding protein structure and activity and should be viewed as one possible pathway to understanding concepts of genetics and ultimately protein expression, based on the existing research. The kindergarten through fifth grade segment reflects findings that show children have a rich knowledge base and sophisticated cognitive abilities, and therefore, is designed so that elementary-aged children can learn content in deep and abstract manners, as well as apply scientific explanations appropriate to their knowledge level. The article also details the LP segment facilitating secondary students' understanding by outlining the overlapping conceptual frames which guide student learning from cell structures and functions to cell splitting (both cell division and gamete formation) to genetics as trait transmission, culminating in genetics as protein expression. The learning progression product avoids the use of technical language, which has been identified as a prominent source of student misconceptions in learning cellular biology, and explicit connections between cellular and macroscopic phenomena are encouraged.

  9. 36 CFR 1202.26 - Who will make sure that my record is accurate?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... RECORDS ADMINISTRATION GENERAL RULES REGULATIONS IMPLEMENTING THE PRIVACY ACT OF 1974 Collecting Information § 1202.26 Who will make sure that my record is accurate? The system manager ensures that...

  10. Feedback about More Accurate versus Less Accurate Trials: Differential Effects on Self-Confidence and Activation

    ERIC Educational Resources Information Center

    Badami, Rokhsareh; VaezMousavi, Mohammad; Wulf, Gabriele; Namazizadeh, Mahdi

    2012-01-01

    One purpose of the present study was to examine whether self-confidence or anxiety would be differentially affected by feedback from more accurate rather than less accurate trials. The second purpose was to determine whether arousal variations (activation) would predict performance. On Day 1, participants performed a golf putting task under one of…

  11. Evolutionary behavioral genetics

    PubMed Central

    Zietsch, Brendan P.; de Candia, Teresa R; Keller, Matthew C.

    2014-01-01

    We describe the scientific enterprise at the intersection of evolutionary psychology and behavioral genetics—a field that could be termed Evolutionary Behavioral Genetics—and how modern genetic data is revolutionizing our ability to test questions in this field. We first explain how genetically informative data and designs can be used to investigate questions about the evolution of human behavior, and describe some of the findings arising from these approaches. Second, we explain how evolutionary theory can be applied to the investigation of behavioral genetic variation. We give examples of how new data and methods provide insight into the genetic architecture of behavioral variation and what this tells us about the evolutionary processes that acted on the underlying causal genetic variants. PMID:25587556

  12. Accurate Guitar Tuning by Cochlear Implant Musicians

    PubMed Central

    Lu, Thomas; Huang, Juan; Zeng, Fan-Gang

    2014-01-01

    Modern cochlear implant (CI) users understand speech but find difficulty in music appreciation due to poor pitch perception. Still, some deaf musicians continue to perform with their CI. Here we show unexpected results that CI musicians can reliably tune a guitar by CI alone and, under controlled conditions, match simultaneously presented tones to <0.5 Hz. One subject had normal contralateral hearing and produced more accurate tuning with CI than his normal ear. To understand these counterintuitive findings, we presented tones sequentially and found that tuning error was larger at ∼30 Hz for both subjects. A third subject, a non-musician CI user with normal contralateral hearing, showed similar trends in performance between CI and normal hearing ears but with less precision. This difference, along with electric analysis, showed that accurate tuning was achieved by listening to beats rather than discriminating pitch, effectively turning a spectral task into a temporal discrimination task. PMID:24651081

  13. New model accurately predicts reformate composition

    SciTech Connect

    Ancheyta-Juarez, J.; Aguilar-Rodriguez, E. )

    1994-01-31

    Although naphtha reforming is a well-known process, the evolution of catalyst formulation, as well as new trends in gasoline specifications, have led to rapid evolution of the process, including: reactor design, regeneration mode, and operating conditions. Mathematical modeling of the reforming process is an increasingly important tool. It is fundamental to the proper design of new reactors and revamp of existing ones. Modeling can be used to optimize operating conditions, analyze the effects of process variables, and enhance unit performance. Instituto Mexicano del Petroleo has developed a model of the catalytic reforming process that accurately predicts reformate composition at the higher-severity conditions at which new reformers are being designed. The new AA model is more accurate than previous proposals because it takes into account the effects of temperature and pressure on the rate constants of each chemical reaction.

  14. Accurate colorimetric feedback for RGB LED clusters

    NASA Astrophysics Data System (ADS)

    Man, Kwong; Ashdown, Ian

    2006-08-01

    We present an empirical model of LED emission spectra that is applicable to both InGaN and AlInGaP high-flux LEDs, and which accurately predicts their relative spectral power distributions over a wide range of LED junction temperatures. We further demonstrate with laboratory measurements that changes in LED spectral power distribution with temperature can be accurately predicted with first- or second-order equations. This provides the basis for a real-time colorimetric feedback system for RGB LED clusters that can maintain the chromaticity of white light at constant intensity to within +/-0.003 Δuv over a range of 45 degrees Celsius, and to within 0.01 Δuv when dimmed over an intensity range of 10:1.

  15. Accurate guitar tuning by cochlear implant musicians.

    PubMed

    Lu, Thomas; Huang, Juan; Zeng, Fan-Gang

    2014-01-01

    Modern cochlear implant (CI) users understand speech but find difficulty in music appreciation due to poor pitch perception. Still, some deaf musicians continue to perform with their CI. Here we show unexpected results that CI musicians can reliably tune a guitar by CI alone and, under controlled conditions, match simultaneously presented tones to <0.5 Hz. One subject had normal contralateral hearing and produced more accurate tuning with CI than his normal ear. To understand these counterintuitive findings, we presented tones sequentially and found that tuning error was larger at ∼ 30 Hz for both subjects. A third subject, a non-musician CI user with normal contralateral hearing, showed similar trends in performance between CI and normal hearing ears but with less precision. This difference, along with electric analysis, showed that accurate tuning was achieved by listening to beats rather than discriminating pitch, effectively turning a spectral task into a temporal discrimination task.

  16. An Accurate, Simplified Model Intrabeam Scattering

    SciTech Connect

    Bane, Karl LF

    2002-05-23

    Beginning with the general Bjorken-Mtingwa solution for intrabeam scattering (IBS) we derive an accurate, greatly simplified model of IBS, valid for high energy beams in normal storage ring lattices. In addition, we show that, under the same conditions, a modified version of Piwinski's IBS formulation (where {eta}{sub x,y}{sup 2}/{beta}{sub x,y} has been replaced by {Eta}{sub x,y}) asymptotically approaches the result of Bjorken-Mtingwa.

  17. An accurate registration technique for distorted images

    NASA Technical Reports Server (NTRS)

    Delapena, Michele; Shaw, Richard A.; Linde, Peter; Dravins, Dainis

    1990-01-01

    Accurate registration of International Ultraviolet Explorer (IUE) images is crucial because the variability of the geometrical distortions that are introduced by the SEC-Vidicon cameras ensures that raw science images are never perfectly aligned with the Intensity Transfer Functions (ITFs) (i.e., graded floodlamp exposures that are used to linearize and normalize the camera response). A technique for precisely registering IUE images which uses a cross correlation of the fixed pattern that exists in all raw IUE images is described.

  18. On accurate determination of contact angle

    NASA Technical Reports Server (NTRS)

    Concus, P.; Finn, R.

    1992-01-01

    Methods are proposed that exploit a microgravity environment to obtain highly accurate measurement of contact angle. These methods, which are based on our earlier mathematical results, do not require detailed measurement of a liquid free-surface, as they incorporate discontinuous or nearly-discontinuous behavior of the liquid bulk in certain container geometries. Physical testing is planned in the forthcoming IML-2 space flight and in related preparatory ground-based experiments.

  19. [Genetic risk and discrimination].

    PubMed

    Vidal Gallardo, Mercedes

    2010-01-01

    The continuous advances in our society in the last decades have allowed us to get to know the personal genetic data. Although this discovery has important benefits, it also causes a great paradox, since the genetic information can be an element of social stigma, and its inappropriate use can damage the fundamental rights. It is obvious that there are cases in which the genetic risk, that is, the predisposition of a person to suffer some illnesses, can be a discriminatory element, especially in the contractual field.

  20. Genetic counseling

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000510.htm Genetic counseling To use the sharing features on this ... cystic fibrosis or Down syndrome. Who May Want Genetic Counseling? It is up to you whether or ...

  1. Genetic Disorders

    MedlinePlus

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  2. Genetics Home Reference: X-linked hyper IgM syndrome

    MedlinePlus

    ... prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys. Related Information What information about a genetic condition can ...

  3. Accurate documentation, correct coding, and compliance: it's your best defense!

    PubMed

    Coles, T S; Babb, E F

    1999-07-01

    This article focuses on the need for physicians to maintain an awareness of regulatory policy and the law impacting the federal government's medical insurance programs, and to internalize and apply this knowledge in their practices. Basic information concerning selected fraud and abuse statutes and the civil monetary penalties and sanctions for noncompliance is discussed. The application of accurate documentation and correct coding principles, as well as the rationale for implementating an effective compliance plan in order to prevent fraud and abuse and/or minimize disciplinary action from government regulatory agencies, are emphasized.

  4. High Frequency QRS ECG Accurately Detects Cardiomyopathy

    NASA Technical Reports Server (NTRS)

    Schlegel, Todd T.; Arenare, Brian; Poulin, Gregory; Moser, Daniel R.; Delgado, Reynolds

    2005-01-01

    High frequency (HF, 150-250 Hz) analysis over the entire QRS interval of the ECG is more sensitive than conventional ECG for detecting myocardial ischemia. However, the accuracy of HF QRS ECG for detecting cardiomyopathy is unknown. We obtained simultaneous resting conventional and HF QRS 12-lead ECGs in 66 patients with cardiomyopathy (EF = 23.2 plus or minus 6.l%, mean plus or minus SD) and in 66 age- and gender-matched healthy controls using PC-based ECG software recently developed at NASA. The single most accurate ECG parameter for detecting cardiomyopathy was an HF QRS morphological score that takes into consideration the total number and severity of reduced amplitude zones (RAZs) present plus the clustering of RAZs together in contiguous leads. This RAZ score had an area under the receiver operator curve (ROC) of 0.91, and was 88% sensitive, 82% specific and 85% accurate for identifying cardiomyopathy at optimum score cut-off of 140 points. Although conventional ECG parameters such as the QRS and QTc intervals were also significantly longer in patients than controls (P less than 0.001, BBBs excluded), these conventional parameters were less accurate (area under the ROC = 0.77 and 0.77, respectively) than HF QRS morphological parameters for identifying underlying cardiomyopathy. The total amplitude of the HF QRS complexes, as measured by summed root mean square voltages (RMSVs), also differed between patients and controls (33.8 plus or minus 11.5 vs. 41.5 plus or minus 13.6 mV, respectively, P less than 0.003), but this parameter was even less accurate in distinguishing the two groups (area under ROC = 0.67) than the HF QRS morphologic and conventional ECG parameters. Diagnostic accuracy was optimal (86%) when the RAZ score from the HF QRS ECG and the QTc interval from the conventional ECG were used simultaneously with cut-offs of greater than or equal to 40 points and greater than or equal to 445 ms, respectively. In conclusion 12-lead HF QRS ECG employing

  5. Genetic modification and genetic determinism.

    PubMed

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  6. Genetic modification and genetic determinism

    PubMed Central

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  7. Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: psychological aspects.

    PubMed

    Tercyak, Kenneth P; Demarco, Tiffani A; Mars, Bryn D; Peshkin, Beth N

    2004-11-15

    Women who participate in BRCA1/2 cancer genetic counseling do so for a variety of reasons, including learning quantitative risk information about their chances of developing hereditary breast-ovarian cancer at some point during their lifetimes. For these women, obtaining pre-test and disclosure genetic counseling with a professional affords them numerous potential benefits, including adequate preparation for, and accurate interpretation of, their test results. In consequence, women commonly report being highly satisfied with their cancer genetic counseling experience, even if the information learned through testing suggests they are at increased cancer risk. This occurrence raises an interesting question, namely, what are the psychological aspects of satisfaction with genetic counseling for hereditary breast-ovarian cancer in women? To answer this question, we administered the Genetic Counseling Satisfaction Scale (GCSS) to a convenience sample of 61 women participating in BRCA1/2 pretest genetic counseling, and re-administered the GCSS to approximately one-third of these women at disclosure. Available psychological data included personality, distress, and family functioning. In bivariate analyses, optimism and family functioning were positively associated with pretest satisfaction. With respect to satisfaction at disclosure, general and cancer-specific distress were negatively associated with satisfaction. Our findings suggest that psychological aspects of satisfaction with cancer genetic counseling vary, with individual differences and family functioning playing a role at pretest, and distress playing a role at disclosure. The implications for future research and clinical practice are discussed.

  8. The role of adolescent nutrition and physical activity in the prediction of verbal intelligence during early adulthood: a genetically informed analysis of twin pairs.

    PubMed

    Jackson, Dylan B; Beaver, Kevin M

    2015-01-05

    A large body of research has revealed that nutrition and physical activity influence brain functioning at various stages of the life course. Nevertheless, very few studies have explored whether diet and exercise influence verbal intelligence as youth transition from adolescence into young adulthood. Even fewer studies have explored the link between these health behaviors and verbal intelligence while accounting for genetic and environmental factors that are shared between siblings. Employing data from the National Longitudinal Study of Adolescent Health, the current study uses a sample of same-sex twin pairs to test whether youth who engage in poorer fitness and nutritional practices are significantly more likely to exhibit reduced verbal intelligence during young adulthood. The results suggests that, independent of the effects of genetic and shared environmental factors, a number of nutritional and exercise factors during adolescence influence verbal intelligence during adulthood. Limitations are noted and suggestions for future research are outlined.

  9. The Role of Adolescent Nutrition and Physical Activity in the Prediction of Verbal Intelligence during Early Adulthood: A Genetically Informed Analysis of Twin Pairs

    PubMed Central

    Jackson, Dylan B.; Beaver, Kevin M.

    2015-01-01

    A large body of research has revealed that nutrition and physical activity influence brain functioning at various stages of the life course. Nevertheless, very few studies have explored whether diet and exercise influence verbal intelligence as youth transition from adolescence into young adulthood. Even fewer studies have explored the link between these health behaviors and verbal intelligence while accounting for genetic and environmental factors that are shared between siblings. Employing data from the National Longitudinal Study of Adolescent Health, the current study uses a sample of same-sex twin pairs to test whether youth who engage in poorer fitness and nutritional practices are significantly more likely to exhibit reduced verbal intelligence during young adulthood. The results suggests that, independent of the effects of genetic and shared environmental factors, a number of nutritional and exercise factors during adolescence influence verbal intelligence during adulthood. Limitations are noted and suggestions for future research are outlined. PMID:25568969

  10. PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population.

    PubMed

    Livne, Oren E; Han, Lide; Alkorta-Aranburu, Gorka; Wentworth-Sheilds, William; Abney, Mark; Ober, Carole; Nicolae, Dan L

    2015-03-01

    Founder populations and large pedigrees offer many well-known advantages for genetic mapping studies, including cost-efficient study designs. Here, we describe PRIMAL (PedigRee IMputation ALgorithm), a fast and accurate pedigree-based phasing and imputation algorithm for founder populations. PRIMAL incorporates both existing and original ideas, such as a novel indexing strategy of Identity-By-Descent (IBD) segments based on clique graphs. We were able to impute the genomes of 1,317 South Dakota Hutterites, who had genome-wide genotypes for ~300,000 common single nucleotide variants (SNVs), from 98 whole genome sequences. Using a combination of pedigree-based and LD-based imputation, we were able to assign 87% of genotypes with >99% accuracy over the full range of allele frequencies. Using the IBD cliques we were also able to infer the parental origin of 83% of alleles, and genotypes of deceased recent ancestors for whom no genotype information was available. This imputed data set will enable us to better study the relative contribution of rare and common variants on human phenotypes, as well as parental origin effect of disease risk alleles in >1,000 individuals at minimal cost.

  11. Imaging Genetics

    ERIC Educational Resources Information Center

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  12. Accurate thermoelastic tensor and acoustic velocities of NaCl

    NASA Astrophysics Data System (ADS)

    Marcondes, Michel L.; Shukla, Gaurav; da Silveira, Pedro; Wentzcovitch, Renata M.

    2015-12-01

    Despite the importance of thermoelastic properties of minerals in geology and geophysics, their measurement at high pressures and temperatures are still challenging. Thus, ab initio calculations are an essential tool for predicting these properties at extreme conditions. Owing to the approximate description of the exchange-correlation energy, approximations used in calculations of vibrational effects, and numerical/methodological approximations, these methods produce systematic deviations. Hybrid schemes combining experimental data and theoretical results have emerged as a way to reconcile available information and offer more reliable predictions at experimentally inaccessible thermodynamics conditions. Here we introduce a method to improve the calculated thermoelastic tensor by using highly accurate thermal equation of state (EoS). The corrective scheme is general, applicable to crystalline solids with any symmetry, and can produce accurate results at conditions where experimental data may not exist. We apply it to rock-salt-type NaCl, a material whose structural properties have been challenging to describe accurately by standard ab initio methods and whose acoustic/seismic properties are important for the gas and oil industry.

  13. Accurate thermoelastic tensor and acoustic velocities of NaCl

    SciTech Connect

    Marcondes, Michel L.; Shukla, Gaurav; Silveira, Pedro da; Wentzcovitch, Renata M.

    2015-12-15

    Despite the importance of thermoelastic properties of minerals in geology and geophysics, their measurement at high pressures and temperatures are still challenging. Thus, ab initio calculations are an essential tool for predicting these properties at extreme conditions. Owing to the approximate description of the exchange-correlation energy, approximations used in calculations of vibrational effects, and numerical/methodological approximations, these methods produce systematic deviations. Hybrid schemes combining experimental data and theoretical results have emerged as a way to reconcile available information and offer more reliable predictions at experimentally inaccessible thermodynamics conditions. Here we introduce a method to improve the calculated thermoelastic tensor by using highly accurate thermal equation of state (EoS). The corrective scheme is general, applicable to crystalline solids with any symmetry, and can produce accurate results at conditions where experimental data may not exist. We apply it to rock-salt-type NaCl, a material whose structural properties have been challenging to describe accurately by standard ab initio methods and whose acoustic/seismic properties are important for the gas and oil industry.

  14. Construction of multilocus genetic linkage maps in humans.

    PubMed Central

    Lander, E S; Green, P

    1987-01-01

    Human genetic linkage maps are most accurately constructed by using information from many loci simultaneously. Traditional methods for such multilocus linkage analysis are computationally prohibitive in general, even with supercomputers. The problem has acquired practical importance because of the current international collaboration aimed at constructing a complete human linkage map of DNA markers through the study of three-generation pedigrees. We describe here several alternative algorithms for constructing human linkage maps given a specified gene order. One method allows maximum-likelihood multilocus linkage maps for dozens of DNA markers in such three-generation pedigrees to be constructed in minutes. PMID:3470801

  15. Accurate upwind methods for the Euler equations

    NASA Technical Reports Server (NTRS)

    Huynh, Hung T.

    1993-01-01

    A new class of piecewise linear methods for the numerical solution of the one-dimensional Euler equations of gas dynamics is presented. These methods are uniformly second-order accurate, and can be considered as extensions of Godunov's scheme. With an appropriate definition of monotonicity preservation for the case of linear convection, it can be shown that they preserve monotonicity. Similar to Van Leer's MUSCL scheme, they consist of two key steps: a reconstruction step followed by an upwind step. For the reconstruction step, a monotonicity constraint that preserves uniform second-order accuracy is introduced. Computational efficiency is enhanced by devising a criterion that detects the 'smooth' part of the data where the constraint is redundant. The concept and coding of the constraint are simplified by the use of the median function. A slope steepening technique, which has no effect at smooth regions and can resolve a contact discontinuity in four cells, is described. As for the upwind step, existing and new methods are applied in a manner slightly different from those in the literature. These methods are derived by approximating the Euler equations via linearization and diagonalization. At a 'smooth' interface, Harten, Lax, and Van Leer's one intermediate state model is employed. A modification for this model that can resolve contact discontinuities is presented. Near a discontinuity, either this modified model or a more accurate one, namely, Roe's flux-difference splitting. is used. The current presentation of Roe's method, via the conceptually simple flux-vector splitting, not only establishes a connection between the two splittings, but also leads to an admissibility correction with no conditional statement, and an efficient approximation to Osher's approximate Riemann solver. These reconstruction and upwind steps result in schemes that are uniformly second-order accurate and economical at smooth regions, and yield high resolution at discontinuities.

  16. Accurate measurement of unsteady state fluid temperature

    NASA Astrophysics Data System (ADS)

    Jaremkiewicz, Magdalena

    2017-03-01

    In this paper, two accurate methods for determining the transient fluid temperature were presented. Measurements were conducted for boiling water since its temperature is known. At the beginning the thermometers are at the ambient temperature and next they are immediately immersed into saturated water. The measurements were carried out with two thermometers of different construction but with the same housing outer diameter equal to 15 mm. One of them is a K-type industrial thermometer widely available commercially. The temperature indicated by the thermometer was corrected considering the thermometers as the first or second order inertia devices. The new design of a thermometer was proposed and also used to measure the temperature of boiling water. Its characteristic feature is a cylinder-shaped housing with the sheath thermocouple located in its center. The temperature of the fluid was determined based on measurements taken in the axis of the solid cylindrical element (housing) using the inverse space marching method. Measurements of the transient temperature of the air flowing through the wind tunnel using the same thermometers were also carried out. The proposed measurement technique provides more accurate results compared with measurements using industrial thermometers in conjunction with simple temperature correction using the inertial thermometer model of the first or second order. By comparing the results, it was demonstrated that the new thermometer allows obtaining the fluid temperature much faster and with higher accuracy in comparison to the industrial thermometer. Accurate measurements of the fast changing fluid temperature are possible due to the low inertia thermometer and fast space marching method applied for solving the inverse heat conduction problem.

  17. Exploration of the perceived and actual benefits of omega-3 fatty acids and the impact of FADS1 and FADS2 genetic information on dietary intake and blood levels of EPA and DHA.

    PubMed

    Roke, Kaitlin

    2017-03-01

    From a global health perspective, increased intake of omega-3 fatty acids (FAs), in particular eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), are beneficial for human health. However, the consumption of EPA- and DHA-rich foods such as fatty fish is low in the Western diet. Therefore, finding new ways to motivate people to increase their consumption of omega-3 FAs is essential. To find effective ways to motivate individuals, understanding people's awareness of omega-3 FAs and how they obtain their knowledge about nutrition and health is critical. Consequently, we developed an online survey to assess awareness and self-reported intake of omega-3 FAs and supplements in young adults. EPA and DHA are also produced endogenously to a limited extent through a pathway regulated by fatty acid desaturase 1 and 2 (FADS1 and FADS2) genes. Of relevance, single nucleotide polymorphisms (SNPs) in the FADS genes influence levels of omega-3 FAs, where minor allele carriers have lower levels compared with major allele carriers. Accordingly, we conducted a clinical trial to investigate FA levels in response to dietary EPA and DHA supplementation in young adults stratified by SNPs in FADS1 and FADS2. The level of reported awareness of omega-3 terminology varied depending on an individual's field of study and thus providing all participants with the same set of nutrition information could be an effective tool to increase knowledge and motivate behaviour change. Additionally, the variation in FA levels in accordance to SNPs in FADS1 and FADS2 could be used to create tailored nutritional recommendations which may improve lifestyle habits. The results discovered in the first 2 studies regarding awareness of omega-3 FAs and genetic variation were subsequently used to design a nutrigenetics intervention in young adults. Individuals who received their FADS1 genetic information were more aware of different omega-3 FAs and reported fewer barriers to their consumption by the end of

  18. The first accurate description of an aurora

    NASA Astrophysics Data System (ADS)

    Schröder, Wilfried

    2006-12-01

    As technology has advanced, the scientific study of auroral phenomena has increased by leaps and bounds. A look back at the earliest descriptions of aurorae offers an interesting look into how medieval scholars viewed the subjects that we study.Although there are earlier fragmentary references in the literature, the first accurate description of the aurora borealis appears to be that published by the German Catholic scholar Konrad von Megenberg (1309-1374) in his book Das Buch der Natur (The Book of Nature). The book was written between 1349 and 1350.

  19. Determining accurate distances to nearby galaxies

    NASA Astrophysics Data System (ADS)

    Bonanos, Alceste Zoe

    2005-11-01

    Determining accurate distances to nearby or distant galaxies is a very simple conceptually, yet complicated in practice, task. Presently, distances to nearby galaxies are only known to an accuracy of 10-15%. The current anchor galaxy of the extragalactic distance scale is the Large Magellanic Cloud, which has large (10-15%) systematic uncertainties associated with it, because of its morphology, its non-uniform reddening and the unknown metallicity dependence of the Cepheid period-luminosity relation. This work aims to determine accurate distances to some nearby galaxies, and subsequently help reduce the error in the extragalactic distance scale and the Hubble constant H 0 . In particular, this work presents the first distance determination of the DIRECT Project to M33 with detached eclipsing binaries. DIRECT aims to obtain a new anchor galaxy for the extragalactic distance scale by measuring direct, accurate (to 5%) distances to two Local Group galaxies, M31 and M33, with detached eclipsing binaries. It involves a massive variability survey of these galaxies and subsequent photometric and spectroscopic follow-up of the detached binaries discovered. In this work, I also present a catalog of variable stars discovered in one of the DIRECT fields, M31Y, which includes 41 eclipsing binaries. Additionally, we derive the distance to the Draco Dwarf Spheroidal galaxy, with ~100 RR Lyrae found in our first CCD variability study of this galaxy. A "hybrid" method of discovering Cepheids with ground-based telescopes is described next. It involves applying the image subtraction technique on the images obtained from ground-based telescopes and then following them up with the Hubble Space Telescope to derive Cepheid period-luminosity distances. By re-analyzing ESO Very Large Telescope data on M83 (NGC 5236), we demonstrate that this method is much more powerful for detecting variability, especially in crowded fields. I finally present photometry for the Wolf-Rayet binary WR 20a

  20. The new genetic era in reproductive medicine: possibilities, probabilities and problems.

    PubMed

    Greene, R A; Jenkins, T M; Wapner, R J

    2001-01-01

    The "New Genetic Era" will be a period of enormous exponential growth in our knowledge of the structure and function of the basic information blocks of life. The Human Genome Project will soon provide a complete and accurate sequence of the human genome. This will give us an abundance of basic genetic knowledge and provide a molecular understanding of disease, allowing for improved diagnosis and more sensitive and specific screening for disease. This will, we hope, lead to better treatments, prevention and cures through gene therapy, patient-specific drug design, and earlier and more specific behavioral interventions to prevent disease. With this information comes a complexity of legal, ethical and social concerns about potential use and abuse. The public has expressed its concerns about the potential for genetic discrimination. However, genetic information is enhancing our knowledge as to the causes of infertility, allowing diagnosis of more diseases in the prenatal period, and may aid our identification of patients at increased risk for breast and ovarian cancer. Doctors involved in reproductive medicine must become knowledgeable about the new genetic era so as to offer our patients the most appropriate and informed care.