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Sample records for database oriented variant

  1. Developing a DNA variant database.

    PubMed

    Fung, David C Y

    2008-01-01

    Disease- and locus-specific variant databases have been a valuable resource to clinical and research geneticists. With the recent rapid developments in technologies, the number of DNA variants detected in a typical molecular genetics laboratory easily exceeds 1,000. To keep track of the growing inventory of DNA variants, many laboratories employ information technology to store the data as well as distributing the data and its associated information to clinicians and researchers via the Web. While it is a valuable resource, the hosting of a web-accessible database requires collaboration between bioinformaticians and biologists and careful planning to ensure its usability and availability. In this chapter, a series of tutorials on building a local DNA variant database out of a sample dataset will be provided. However, this tutorial will not include programming details on building a web interface and on constructing the web application necessary for web hosting. Instead, an introduction to the two commonly used methods for hosting web-accessible variant databases will be described. Apart from the tutorials, this chapter will also consider the resources and planning required for making a variant database project successful.

  2. The Saccharomyces Genome Database Variant Viewer

    PubMed Central

    Sheppard, Travis K.; Hitz, Benjamin C.; Engel, Stacia R.; Song, Giltae; Balakrishnan, Rama; Binkley, Gail; Costanzo, Maria C.; Dalusag, Kyla S.; Demeter, Janos; Hellerstedt, Sage T.; Karra, Kalpana; Nash, Robert S.; Paskov, Kelley M.; Skrzypek, Marek S.; Weng, Shuai; Wong, Edith D.; Cherry, J. Michael

    2016-01-01

    The Saccharomyces Genome Database (SGD; http://www.yeastgenome.org) is the authoritative community resource for the Saccharomyces cerevisiae reference genome sequence and its annotation. In recent years, we have moved toward increased representation of sequence variation and allelic differences within S. cerevisiae. The publication of numerous additional genomes has motivated the creation of new tools for their annotation and analysis. Here we present the Variant Viewer: a dynamic open-source web application for the visualization of genomic and proteomic differences. Multiple sequence alignments have been constructed across high quality genome sequences from 11 different S. cerevisiae strains and stored in the SGD. The alignments and summaries are encoded in JSON and used to create a two-tiered dynamic view of the budding yeast pan-genome, available at http://www.yeastgenome.org/variant-viewer. PMID:26578556

  3. DNA variant databases: current state and future directions.

    PubMed

    Plazzer, John-Paul; Macrae, Finlay

    2014-01-01

    In this chapter we aim to provide an overview of DNA variant databases, commonly known as Locus-Specific Databases (LSDBs), or Gene-Disease Specific Databases (GDSDBs), but the term variant database will be used for simplicity. We restrict this overview to germ-line variants, particularly as related to Mendelian diseases, which are diseases caused by a variant in a single gene. Common difficulties associated with variant databases and some proposed solutions are reviewed. Finally, systems where technical solutions have been implemented are discussed. This work will be useful for anyone wishing to establish their own variant database, or to learn about the global picture of variant databases, and the technical challenges to be overcome.

  4. Object-Oriented Geographical Database Model

    NASA Technical Reports Server (NTRS)

    Johnson, M. L.; Bryant, N.; Sapounas, D.

    1996-01-01

    Terbase is an Object-Oriented database system under development at the Jet Propulsion Laboratory (JPL). Terbase is designed for flexibility, reusability, maintenace ease, multi-user collaboration and independence, and efficiency. This paper details the design and development of Terbase as a geographic data server...

  5. Database for Parkinson Disease Mutations and Rare Variants

    DTIC Science & Technology

    2015-07-01

    due to time or knowledge restrained to sift through scattered information. Current databases do not address actual contribution of variant to PD...variant discovery , the Parkinson Disease project focuses on identification of rare variants and their differential accumulation within a gene region...During her three year fellowship in Miami, she has extended her knowledge and acquired vast experience working with next generation sequencing

  6. Making an object-oriented database active

    NASA Astrophysics Data System (ADS)

    Dong, Yue; Goh, Angela

    1996-03-01

    One key technology required by a CAD/CAM is a database system management. However, conventional database systems are not well suited for CAD/CAM applications because of their lack of support for complex structured data and their inability to meet the demands of dynamic changes of schemas. Object-Oriented Database systems have many advantages over conventional database systems, such as the ability to support complex objects and long transactions in CAD/CAM. The main feature of an Active Database is to react autonomously (without user intervention or application request) to events that can occur in a database. An active OODB system will meet requirements of a wide range of applications, in particular, for CAD/CAM systems. In this paper, we propose a layered architecture to represent an active OODB by putting an active facility on top of a passive OODB system. In this active layer, we use a rule/event interface to specify rules/events and to store rules/events as `first-class' objects which can be created, inquired, deleted and updated like other objects. In this paper, we will focus on the specification of expressive ECA (Event-Condition-Action) rules, detection of primitive and composite events. Finally, we will discuss how to implement the architecture using a commercial OODB such as ObjectStore.

  7. The fundamentals of object-oriented database management systems.

    PubMed

    Plateau, D

    1993-01-01

    The purpose of this document is to characterize the two technologies (database and object-oriented technologies) which constitute the foundation of object-oriented database management systems. The O2 Object-Oriented DataBase Management System is then described as an example of this type of system.

  8. The IPD and IMGT/HLA database: allele variant databases

    PubMed Central

    Robinson, James; Halliwell, Jason A.; Hayhurst, James D.; Flicek, Paul; Parham, Peter; Marsh, Steven G. E.

    2015-01-01

    The Immuno Polymorphism Database (IPD) was developed to provide a centralized system for the study of polymorphism in genes of the immune system. Through the IPD project we have established a central platform for the curation and publication of locus-specific databases involved either directly or related to the function of the Major Histocompatibility Complex in a number of different species. We have collaborated with specialist groups or nomenclature committees that curate the individual sections before they are submitted to IPD for online publication. IPD consists of five core databases, with the IMGT/HLA Database as the primary database. Through the work of the various nomenclature committees, the HLA Informatics Group and in collaboration with the European Bioinformatics Institute we are able to provide public access to this data through the website http://www.ebi.ac.uk/ipd/. The IPD project continues to develop with new tools being added to address scientific developments, such as Next Generation Sequencing, and to address user feedback and requests. Regular updates to the website ensure that new and confirmatory sequences are dispersed to the immunogenetics community, and the wider research and clinical communities. PMID:25414341

  9. The IPD and IMGT/HLA database: allele variant databases.

    PubMed

    Robinson, James; Halliwell, Jason A; Hayhurst, James D; Flicek, Paul; Parham, Peter; Marsh, Steven G E

    2015-01-01

    The Immuno Polymorphism Database (IPD) was developed to provide a centralized system for the study of polymorphism in genes of the immune system. Through the IPD project we have established a central platform for the curation and publication of locus-specific databases involved either directly or related to the function of the Major Histocompatibility Complex in a number of different species. We have collaborated with specialist groups or nomenclature committees that curate the individual sections before they are submitted to IPD for online publication. IPD consists of five core databases, with the IMGT/HLA Database as the primary database. Through the work of the various nomenclature committees, the HLA Informatics Group and in collaboration with the European Bioinformatics Institute we are able to provide public access to this data through the website http://www.ebi.ac.uk/ipd/. The IPD project continues to develop with new tools being added to address scientific developments, such as Next Generation Sequencing, and to address user feedback and requests. Regular updates to the website ensure that new and confirmatory sequences are dispersed to the immunogenetics community, and the wider research and clinical communities.

  10. NECTAR: a database of codon-centric missense variant annotations.

    PubMed

    Gong, Sungsam; Ware, James S; Walsh, Roddy; Cook, Stuart A

    2014-01-01

    NECTAR (Non-synonymous Enriched Coding muTation ARchive; http://nectarmutation.org) is a database and web application to annotate disease-related and functionally important amino acids in human proteins. A number of tools are available to facilitate the interpretation of DNA variants identified in diagnostic or research sequencing. These typically identify previous reports of DNA variation at a given genomic location, predict its effects on transcript and protein sequence and may predict downstream functional consequences. Previous reports and functional annotations are typically linked by the genomic location of the variant observed. NECTAR collates disease-causing variants and functionally important amino acid residues from a number of sources. Importantly, rather than simply linking annotations by a shared genomic location, NECTAR annotates variants of interest with details of previously reported variation affecting the same codon. This provides a much richer data set for the interpretation of a novel DNA variant. NECTAR also identifies functionally equivalent amino acid residues in evolutionarily related proteins (paralogues) and, where appropriate, transfers annotations between them. As well as accessing these data through a web interface, users can upload batches of variants in variant call format (VCF) for annotation on-the-fly. The database is freely available to download from the ftp site: ftp://ftp.nectarmutation.org.

  11. The ARVD/C genetic variants database: 2014 update.

    PubMed

    Lazzarini, Elisabetta; Jongbloed, Jan D H; Pilichou, Kalliopi; Thiene, Gaetano; Basso, Cristina; Bikker, Hennie; Charbon, Bart; Swertz, Morris; van Tintelen, J Peter; van der Zwaag, Paul A

    2015-04-01

    Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by myocardial atrophy, fibro-fatty replacement, and a high risk of ventricular arrhythmias that lead to sudden death. In 2009, genetic data from 57 publications were collected in the arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) Genetic Variants Database (freeware available at http://www.arvcdatabase.info), which comprised 481 variants in eight ACM-associated genes. In recent years, deep genetic sequencing has increased our knowledge of the genetics of ACM, revealing a large spectrum of nucleotide variations for which pathogenicity needs to be assessed. As of April 20, 2014, we have updated the ARVD/C database into the ARVD/C database to contain more than 1,400 variants in 12 ACM-related genes (PKP2, DSP, DSC2, DSG2, JUP, TGFB3, TMEM43, LMNA, DES, TTN, PLN, CTNNA3) as reported in more than 160 references. Of these, only 411 nucleotide variants have been reported as pathogenic, whereas the significance of the other approximately 1,000 variants is still unknown. This comprehensive collection of ACM genetic data represents a valuable source of information on the spectrum of ACM-associated genes and aims to facilitate the interpretation of genetic data and genetic counseling.

  12. The Biotinidase Gene Variants Registry: A Paradigm Public Database

    PubMed Central

    Procter, Melinda; Wolf, Barry; Crockett, David K.; Mao, Rong

    2013-01-01

    The BTD gene codes for production of biotinidase, the enzyme responsible for helping the body reuse and recycle the biotin found in foods. Biotinidase deficiency is an autosomal recessively inherited disorder resulting in the inability to recycle the vitamin biotin and affects approximately 1 in 60,000 newborns. If untreated, the depletion of intracellular biotin leads to impaired activities of the biotin-dependent carboxylases and can result in cutaneous and neurological abnormalities in individuals with the disorder. Mutations in the biotinidase gene (BTD) alter enzymatic function. To date, more than 165 mutations in BTD have been reported. Our group has developed a database that characterizes the known mutations and sequence variants in BTD. (http://arup.utah.edu/database/BTD/BTD_welcome.php). All sequence variants have been verified for their positions within the BTD gene and designated according to standard nomenclature suggested by Human Genome Variation Society (HGVS). In addition, we describe the change in the protein, indicate whether the variant is a known or likely mutation vs. a benign polymorphism, and include the reference that first described the alteration. We also indicate whether the alteration is known to be clinically pathological based on an observation of a known symptomatic individual or predicted to be pathological based on enzymatic activity or putative disruption of the protein structure. We incorporated the published phenotype to help establish genotype-phenotype correlations and facilitate this process for those performing mutation analysis and/or interpreting results. Other features of this database include disease information, relevant links about biotinidase deficiency, reference sequences, ability to query by various criteria, and the process for submitting novel variations. This database is free to the public and will be updated quarterly. This database is a paradigm for formulating databases for other inherited metabolic disorders

  13. A Distributed Object-Oriented Database Application Design

    DTIC Science & Technology

    1993-03-01

    Hector Garcia- Molina and Bruce Lindsay, "Research Directions for Distributed Databases ", SIGMOD RECORD, vol. 1, pp.9 8 -10 3 ,1990. 48. Servio Logic...management in Distributed Infor- mation Systems" in "Research Foundations in Object-Oriented and Semantic Database Systems" Edited by: Cardenas, Alfonso F...Object-Oriented and Semantic Database Systems" Edited by: Cardenas, Alfonso F., Dennis McLeod, Prentice-Hall, 1990. 103. Martin, James and James J

  14. Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

    PubMed

    Vail, Paris J; Morris, Brian; van Kan, Aric; Burdett, Brianna C; Moyes, Kelsey; Theisen, Aaron; Kerr, Iain D; Wenstrup, Richard J; Eggington, Julie M

    2015-10-01

    Genetic variants of uncertain clinical significance (VUSs) are a common outcome of clinical genetic testing. Locus-specific variant databases (LSDBs) have been established for numerous disease-associated genes as a research tool for the interpretation of genetic sequence variants to facilitate variant interpretation via aggregated data. If LSDBs are to be used for clinical practice, consistent and transparent criteria regarding the deposition and interpretation of variants are vital, as variant classifications are often used to make important and irreversible clinical decisions. In this study, we performed a retrospective analysis of 2017 consecutive BRCA1 and BRCA2 genetic variants identified from 24,650 consecutive patient samples referred to our laboratory to establish an unbiased dataset representative of the types of variants seen in the US patient population, submitted by clinicians and researchers for BRCA1 and BRCA2 testing. We compared the clinical classifications of these variants among five publicly accessible BRCA1 and BRCA2 variant databases: BIC, ClinVar, HGMD (paid version), LOVD, and the UMD databases. Our results show substantial disparity of variant classifications among publicly accessible databases. Furthermore, it appears that discrepant classifications are not the result of a single outlier but widespread disagreement among databases. This study also shows that databases sometimes favor a clinical classification when current best practice guidelines (ACMG/AMP/CAP) would suggest an uncertain classification. Although LSDBs have been well established for research applications, our results suggest several challenges preclude their wider use in clinical practice.

  15. Object-Oriented Database Access from Ada

    DTIC Science & Technology

    1993-03-01

    collection..create"l); function OS-.COLLECTION..CREATE(DB :DATABASE; C-21 SIZE OS-I.NT32 :0) return OS-COLLECTION 1s behavor bitwise operation - e...collection..maintain-cursors => 16 -- this sample default that the behavor is maintain-.order and cursors (24) COLL-..3V :OS-.UNSIONED-.INT32 *24

  16. Compact variant-rich customized sequence database and a fast and sensitive database search for efficient proteogenomic analyses.

    PubMed

    Park, Heejin; Bae, Junwoo; Kim, Hyunwoo; Kim, Sangok; Kim, Hokeun; Mun, Dong-Gi; Joh, Yoonsung; Lee, Wonyeop; Chae, Sehyun; Lee, Sanghyuk; Kim, Hark Kyun; Hwang, Daehee; Lee, Sang-Won; Paek, Eunok

    2014-12-01

    In proteogenomic analysis, construction of a compact, customized database from mRNA-seq data and a sensitive search of both reference and customized databases are essential to accurately determine protein abundances and structural variations at the protein level. However, these tasks have not been systematically explored, but rather performed in an ad-hoc fashion. Here, we present an effective method for constructing a compact database containing comprehensive sequences of sample-specific variants--single nucleotide variants, insertions/deletions, and stop-codon mutations derived from Exome-seq and RNA-seq data. It, however, occupies less space by storing variant peptides, not variant proteins. We also present an efficient search method for both customized and reference databases. The separate searches of the two databases increase the search time, and a unified search is less sensitive to identify variant peptides due to the smaller size of the customized database, compared to the reference database, in the target-decoy setting. Our method searches the unified database once, but performs target-decoy validations separately. Experimental results show that our approach is as fast as the unified search and as sensitive as the separate searches. Our customized database includes mutation information in the headers of variant peptides, thereby facilitating the inspection of peptide-spectrum matches.

  17. Knowledge Discovery in Variant Databases Using Inductive Logic Programming

    PubMed Central

    Nguyen, Hoan; Luu, Tien-Dao; Poch, Olivier; Thompson, Julie D.

    2013-01-01

    Understanding the effects of genetic variation on the phenotype of an individual is a major goal of biomedical research, especially for the development of diagnostics and effective therapeutic solutions. In this work, we describe the use of a recent knowledge discovery from database (KDD) approach using inductive logic programming (ILP) to automatically extract knowledge about human monogenic diseases. We extracted background knowledge from MSV3d, a database of all human missense variants mapped to 3D protein structure. In this study, we identified 8,117 mutations in 805 proteins with known three-dimensional structures that were known to be involved in human monogenic disease. Our results help to improve our understanding of the relationships between structural, functional or evolutionary features and deleterious mutations. Our inferred rules can also be applied to predict the impact of any single amino acid replacement on the function of a protein. The interpretable rules are available at http://decrypthon.igbmc.fr/kd4v/. PMID:23589683

  18. Object-oriented structures supporting remote sensing databases

    NASA Technical Reports Server (NTRS)

    Wichmann, Keith; Cromp, Robert F.

    1995-01-01

    Object-oriented databases show promise for modeling the complex interrelationships pervasive in scientific domains. To examine the utility of this approach, we have developed an Intelligent Information Fusion System based on this technology, and applied it to the problem of managing an active repository of remotely-sensed satellite scenes. The design and implementation of the system is compared and contrasted with conventional relational database techniques, followed by a presentation of the underlying object-oriented data structures used to enable fast indexing into the data holdings.

  19. Object-oriented structures supporting remote sensing databases

    NASA Technical Reports Server (NTRS)

    Wichmann, Keith; Cromp, Robert F.

    1995-01-01

    Object-oriented databases show promise for modeling the complex interrelationships pervasive in scientific domains. To examine the utility of this approach, we have developed an Intelligent Information Fusion System based on this technology, and applied it to the problem of managing an active repository of remotely-sensed satellite scenes. The design and implementation of the system is compared and contrasted with conventional relational database techniques, followed by a presentation of the underlying object-oriented data structures used to enable fast indexing into the data holdings.

  20. INTERACT: an object oriented protein-protein interaction database.

    PubMed

    Eilbeck, K; Brass, A; Paton, N; Hodgman, C

    1999-01-01

    Protein-protein interactions provide vital information concerning the function of proteins, complexes and networks. Currently there is no widely accepted repository of this interaction information. Our aim is to provide a single database with the necessary architecture to fully store, query and analyse interaction data. An object oriented database has been created which provides scientists with a resource for examining existing protein-protein interactions and inferring possible interactions from the data stored. It also provides a basis for examining networks of interacting proteins, via analysis of the data stored. The database contains over a thousand interactions. k.eilbeck@stud.man.ac.uk

  1. A survey of commercial object-oriented database management systems

    NASA Technical Reports Server (NTRS)

    Atkins, John

    1992-01-01

    The object-oriented data model is the culmination of over thirty years of database research. Initially, database research focused on the need to provide information in a consistent and efficient manner to the business community. Early data models such as the hierarchical model and the network model met the goal of consistent and efficient access to data and were substantial improvements over simple file mechanisms for storing and accessing data. However, these models required highly skilled programmers to provide access to the data. Consequently, in the early 70's E.F. Codd, an IBM research computer scientists, proposed a new data model based on the simple mathematical notion of the relation. This model is known as the Relational Model. In the relational model, data is represented in flat tables (or relations) which have no physical or internal links between them. The simplicity of this model fostered the development of powerful but relatively simple query languages that now made data directly accessible to the general database user. Except for large, multi-user database systems, a database professional was in general no longer necessary. Database professionals found that traditional data in the form of character data, dates, and numeric data were easily represented and managed via the relational model. Commercial relational database management systems proliferated and performance of relational databases improved dramatically. However, there was a growing community of potential database users whose needs were not met by the relational model. These users needed to store data with data types not available in the relational model and who required a far richer modelling environment than that provided by the relational model. Indeed, the complexity of the objects to be represented in the model mandated a new approach to database technology. The Object-Oriented Model was the result.

  2. EMEN2: an object oriented database and electronic lab notebook.

    PubMed

    Rees, Ian; Langley, Ed; Chiu, Wah; Ludtke, Steven J

    2013-02-01

    Transmission electron microscopy and associated methods, such as single particle analysis, two-dimensional crystallography, helical reconstruction, and tomography, are highly data-intensive experimental sciences, which also have substantial variability in experimental technique. Object-oriented databases present an attractive alternative to traditional relational databases for situations where the experiments themselves are continually evolving. We present EMEN2, an easy to use object-oriented database with a highly flexible infrastructure originally targeted for transmission electron microscopy and tomography, which has been extended to be adaptable for use in virtually any experimental science. It is a pure object-oriented database designed for easy adoption in diverse laboratory environments and does not require professional database administration. It includes a full featured, dynamic web interface in addition to APIs for programmatic access. EMEN2 installations currently support roughly 800 scientists worldwide with over 1/2 million experimental records and over 20 TB of experimental data. The software is freely available with complete source.

  3. EMEN2: An Object Oriented Database and Electronic Lab Notebook

    PubMed Central

    Rees, Ian; Langley, Ed; Chiu, Wah; Ludtke, Steven J.

    2013-01-01

    Transmission electron microscopy and associated methods such as single particle analysis, 2-D crystallography, helical reconstruction and tomography, are highly data-intensive experimental sciences, which also have substantial variability in experimental technique. Object-oriented databases present an attractive alternative to traditional relational databases for situations where the experiments themselves are continually evolving. We present EMEN2, an easy to use object-oriented database with a highly flexible infrastructure originally targeted for transmission electron microscopy and tomography, which has been extended to be adaptable for use in virtually any experimental science. It is a pure object-oriented database designed for easy adoption in diverse laboratory environments, and does not require professional database administration. It includes a full featured, dynamic web interface in addition to APIs for programmatic access. EMEN2 installations currently support roughly 800 scientists worldwide with over 1/2 million experimental records and over 20 TB of experimental data. The software is freely available with complete source. PMID:23360752

  4. Mapper: A distributed object-oriented database application

    NASA Technical Reports Server (NTRS)

    Younger, Herbert; O'Reilly, John; Frogner, Bjorn

    1995-01-01

    This paper discusses the results of a Small Business Innovation Research (SBIR) project. The initial application involved decomposition of a large database across multiple processors to improve the speed of processing compound queries. The commercial outcome was a tourist information system with a point-to-point driving direction program called MAPPER. A distributed, object-oriented approach was used for the general design, while a spatial decomposition was used to divide the database into computationally manageable pieces. The resulting system is highly flexible with respect to both modifications and reuse.

  5. Implementing Relational Operations in an Object-Oriented Database

    DTIC Science & Technology

    1992-03-01

    NAVAL POSTGRADUATE SCHOOL Monterey, California AD-A249 332 DTIC ILECT[EAR28 992. THESIS IMPLEMENTING RELATIONAL OPERATIONS IN AN OBJECT-ORIENTED...DATABASE by Stephen C. Filippi March 1992 Thesis Advisor: Michael L. Nelson Co-Advisor: C. Thomas Wu Approved for public release; distribution is...Approved for public release; distribution is unlimited 4. PERFORMING ORGANIZATION REPORT NUMBER(S) 5. MONITORING ORGANIZATION REPORT NUMBER(S) 6a. NAME OF

  6. Database for Parkinson Disease Mutations and Rare Variants

    DTIC Science & Technology

    2016-09-01

    for Parkinson Disease Mutations and Rare Variants 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Jeffery M...Vance, J.M.: “Parkinson Disease Variant Database”. MDS 19th International Congress of Parkinson’s Disease and Movement Disorders, San Diego, CA, June 14

  7. Embedding CLIPS in a database-oriented diagnostic system

    NASA Technical Reports Server (NTRS)

    Conway, Tim

    1990-01-01

    This paper describes the integration of C Language Production Systems (CLIPS) into a powerful portable maintenance aid (PMA) system used for flightline diagnostics. The current diagnostic target of the system is the Garrett GTCP85-180L, a gas turbine engine used as an Auxiliary Power Unit (APU) on some C-130 military transport aircraft. This project is a database oriented approach to a generic diagnostic system. CLIPS is used for 'many-to-many' pattern matching within the diagnostics process. Patterns are stored in database format, and CLIPS code is generated by a 'compilation' process on the database. Multiple CLIPS rule sets and working memories (in sequence) are supported and communication between the rule sets is achieved via the export and import commands. Work is continuing on using CLIPS in other portions of the diagnostic system and in re-implementing the diagnostic system in the Ada language.

  8. LOVD v.2.0: the next generation in gene variant databases.

    PubMed

    Fokkema, Ivo F A C; Taschner, Peter E M; Schaafsma, Gerard C P; Celli, J; Laros, Jeroen F J; den Dunnen, Johan T

    2011-05-01

    Locus-Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. We developed the Leiden Open-source Variation Database (LOVD) as a platform-independent Web-based LSDB-in-a-Box package. LOVD was designed to be easy to set up and maintain and follows the Human Genome Variation Society (HGVS) recommendations. Here we describe LOVD v.2.0, which adds enhanced flexibility and functionality and has the capacity to store sequence variants in multiple genes per patient. To reduce redundancy, patient and sequence variant data are stored in separate tables. Tables are linked to generate connections between sequence variant data for each gene and every patient. The dynamic structure allows database managers to add custom columns. The database structure supports fast queries and allows storage of sequence variants from high-throughput sequence analysis, as demonstrated by the X-chromosomal Mental Retardation LOVD installation. LOVD contains measures to ensure database security from unauthorized access. Currently, the LOVD Website (http://www.LOVD.nl/) lists 71 public LOVD installations hosting 3,294 gene variant databases with 199,000 variants in 84,000 patients. To promote LSDB standardization and thereby database interoperability, we offer free server space and help to establish an LSDB on our Leiden server. © 2011 Wiley-Liss, Inc.

  9. The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

    PubMed

    Savige, Judy; Dalgleish, Raymond; Cotton, Richard Gh; den Dunnen, Johan T; Macrae, Finlay; Povey, Sue

    2015-11-01

    A recent review identified 60 common inherited renal diseases caused by DNA variants in 132 different genes. These diseases can be diagnosed with DNA sequencing, but each gene probably also has a thousand normal variants. Many more normal variants have been characterised by individual laboratories than are reported in the literature or found in publicly accessible collections. At present, testing laboratories must assess each novel change they identify for pathogenicity, even when this has been done elsewhere previously, and the distinction between normal and disease-associated variants is particularly an issue with the recent surge in exomic sequencing and gene discovery projects. The Human Variome Project recommends the establishment of gene-specific DNA variant databases to facilitate the sharing of DNA variants and decisions about likely disease causation. Databases improve diagnostic accuracy and testing efficiency, and reduce costs. They also help with genotype-phenotype correlations and predictive algorithms. The Human Variome Project advocates databases that use standardised descriptions, are up-to-date, include clinical information and are freely available. Currently, the genes affected in the most common inherited renal diseases correspond to 350 different variant databases, many of which are incomplete or have insufficient clinical details for genotype-phenotype correlations. Assistance is needed from nephrologists to maximise the usefulness of these databases for the diagnosis and management of inherited renal disease.

  10. Exomic variants of an elderly cohort of Brazilians in the ABraOM database.

    PubMed

    Naslavsky, Michel Satya; Yamamoto, Guilherme Lopes; de Almeida, Tatiana Ferreira; Ezquina, Suzana A M; Sunaga, Daniele Yumi; Pho, Nam; Bozoklian, Daniel; Sandberg, Tatiana Orli Milkewitz; Brito, Luciano Abreu; Lazar, Monize; Bernardo, Danilo Vicensotto; Amaro, Edson; Duarte, Yeda A O; Lebrão, Maria Lúcia; Passos-Bueno, Maria Rita; Zatz, Mayana

    2017-07-01

    Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet still underrepresented in genomic databanks. We hereby present a collection of exomic variants from 609 elderly Brazilians in a census-based cohort (SABE609) with comprehensive phenotyping. Variants were deposited in ABraOM (Online Archive of Brazilian Mutations), a Web-based public database. Population representative phenotype and genotype repositories are essential for variant interpretation through allele frequency filtering; since elderly individuals are less likely to harbor pathogenic mutations for early- and adult-onset diseases, such variant databases are of great interest. Among the over 2.3 million variants from the present cohort, 1,282,008 were high-confidence calls. Importantly, 207,621 variants were absent from major public databases. We found 9,791 potential loss-of-function variants with about 300 mutations per individual. Pathogenic variants on clinically relevant genes (ACMG) were observed in 1.15% of the individuals and were correlated with clinical phenotype. We conducted incidence estimation for prevalent recessive disorders based upon heterozygous frequency and concluded that it relies on appropriate pathogenicity assertion. These observations illustrate the relevance of collecting demographic data from diverse, poorly characterized populations. Census-based datasets of aged individuals with comprehensive phenotyping are an invaluable resource toward the improved understanding of variant pathogenicity. © 2017 Wiley Periodicals, Inc.

  11. Object oriented Transcription Factors Database (ooTFD).

    PubMed

    Ghosh, D

    1999-01-01

    ooTFD is an object-oriented database for the representation of information pertaining to transcription factors, the proteins and biochemical entities which play a central role in the regulation of gene expression. Given the recent explosion of genome sequence information, and that a large percentage of proteins encoded by fully sequenced genomes fall into this category, information pertaining to this class of molecules may become an essential aspect of biology and of genomics in the 21st century. In the past year, there was a small increase in the size of this database, and a number of new tools to facilitate data access and analysis have been added at the MIRAGE (Molecular Informatics Resource for the Analysis of Gene Expression) web site. ooTFD and associated tools and resources can be accessed at http://www.ifti.org/

  12. A revised crustal stress orientation database for Canada

    NASA Astrophysics Data System (ADS)

    Reiter, Karsten; Heidbach, Oliver; Schmitt, Douglas; Haug, Kristine; Ziegler, Moritz; Moeck, Inga

    2014-12-01

    The Canadian database on contemporary crustal stress has not been revised systematically in the past two decades. Here we present the results of our new compilation that contains 514 new data records for the orientation data of maximum compressive horizontal stress and 188 data records that were re-assessed. In total the Canadian stress database has now 1667 data records, which is an increase of about 45%. From these data, a new Canadian Stress map as well as one for the Province of Alberta is presented. To analyse the stress pattern, we use the quasi median on the circle as a smoothing algorithm that generates a smoothed stress map of the maximum compressive horizontal stress orientation on a regular grid. The newly introduced quasi interquartile range on the circle estimates the spreading of the data and is used as a measure for the wave-length of the stress pattern. The result of the hybrid wavelength analysis confirms that long spatial wavelength stress patterns (≥ 1000 km) exist in large areas in Canada. The observed stress pattern is transmitted through the intra-plate regions. The results reveal that shorter spatial wave length variation of the maximum compressive horizontal stress orientation of less than 200 km, prevails particularly in south-eastern and western Canada. Regional stress sources such as density contrasts, active fault systems, crustal structures, etc. might have a significant impact in these regions. In contrast to these variations, the observed stress pattern in the Alberta Basin is very homogeneous and mainly controlled by plate boundary forces and body forces. The influence of curvature of the Rocky Mountains salient in southern Alberta is minimal. The present-day horizontal stress orientations determined herein have important implications for the production of hydrocarbons and geothermal energy in the Alberta Basin.

  13. Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.

    PubMed

    Gradishar, William; Johnson, KariAnne; Brown, Krystal; Mundt, Erin; Manley, Susan

    2017-07-01

    There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter discordant variant classifications that may introduce uncertainty into patient management. Here, we evaluate discordance in BRCA1 and BRCA2 variant classifications between a single commercial testing laboratory and a public database commonly consulted in clinical practice. BRCA1 and BRCA2 variant classifications were obtained from ClinVar and compared with the classifications from a reference laboratory. Full concordance and discordance were determined for variants whose ClinVar entries were of the same pathogenicity (pathogenic, benign, or uncertain). Variants with conflicting ClinVar classifications were considered partially concordant if ≥1 of the listed classifications agreed with the reference laboratory classification. Four thousand two hundred and fifty unique BRCA1 and BRCA2 variants were available for analysis. Overall, 73.2% of classifications were fully concordant and 12.3% were partially concordant. The remaining 14.5% of variants had discordant classifications, most of which had a definitive classification (pathogenic or benign) from the reference laboratory compared with an uncertain classification in ClinVar (14.0%). Here, we show that discrepant classifications between a public database and single reference laboratory potentially account for 26.7% of variants in BRCA1 and BRCA2. The time and expertise required of clinicians to research these discordant classifications call into question the practicality of checking all test results against a database and suggest that discordant classifications should be interpreted with these limitations in mind. With the increasing use of clinical genetic testing for hereditary cancer risk, accurate variant classification is vital to ensuring appropriate medical management. There

  14. Genetic variants of the DNA repair genes from Exome Aggregation Consortium (EXAC) database: significance in cancer.

    PubMed

    Das, Raima; Ghosh, Sankar Kumar

    2017-04-01

    DNA repair pathway is a primary defense system that eliminates wide varieties of DNA damage. Any deficiencies in them are likely to cause the chromosomal instability that leads to cell malfunctioning and tumorigenesis. Genetic polymorphisms in DNA repair genes have demonstrated a significant association with cancer risk. Our study attempts to give a glimpse of the overall scenario of the germline polymorphisms in the DNA repair genes by taking into account of the Exome Aggregation Consortium (ExAC) database as well as the Human Gene Mutation Database (HGMD) for evaluating the disease link, particularly in cancer. It has been found that ExAC DNA repair dataset (which consists of 228 DNA repair genes) comprises 30.4% missense, 12.5% dbSNP reported and 3.2% ClinVar significant variants. 27% of all the missense variants has the deleterious SIFT score of 0.00 and 6% variants carrying the most damaging Polyphen-2 score of 1.00, thus affecting the protein structure and function. However, as per HGMD, only a fraction (1.2%) of ExAC DNA repair variants was found to be cancer-related, indicating remaining variants reported in both the databases to be further analyzed. This, in turn, may provide an increased spectrum of the reported cancer linked variants in the DNA repair genes present in ExAC database. Moreover, further in silico functional assay of the identified vital cancer-associated variants, which is essential to get their actual biological significance, may shed some lights in the field of targeted drug development in near future. Copyright © 2017. Published by Elsevier B.V.

  15. Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations

    PubMed Central

    Tong, Mark Y.; Cassa, Christopher A.; Kohane, Isaac S.

    2011-01-01

    Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant. Many disease associations, especially those reported before the completion of the HGP, are limited in applicability because of potential inconsistencies with our current standards for genomic coordinates, nomenclature and gene structure. In an effort to validate and link variants from the medical genetics literature to an unambiguous reference for each variant, we developed a software pipeline and reviewed 68 641 single amino acid mutations from Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation Database (HGMD) and dbSNP. The frequency of unresolved mutation annotations varied widely among the databases, ranging from 4 to 23%. A taxonomy of primary causes for unresolved mutations was produced. Availability: This program is freely available from the web site (http://safegene.hms.harvard.edu/aa2nt/). Contact: mt153@hms.harvard.edu; mark_tong2009@yahoo.com Supplementary information: Supplementary data are available at Bioinformatics online. PMID:21258063

  16. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

    PubMed

    Wildeman, Martin; van Ophuizen, Ernest; den Dunnen, Johan T; Taschner, Peter E M

    2008-01-01

    Unambiguous and correct sequence variant descriptions are of utmost importance, not in the least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We developed the Mutation Analyzer (Mutalyzer) sequence variation nomenclature checker (www.lovd.nl/mutalyzer; last accessed 13 September 2007) for automated analysis and correction of sequence variant descriptions using reference sequences from any organism. Mutalyzer handles most variation types: substitution, deletion, duplication, insertion, indel, and splice-site changes following current recommendations of the Human Genome Variation Society (HGVS). Input is a GenBank accession number or an uploaded reference sequence file in GenBank format with user-modified annotation, an HGNC gene symbol, and the variant (single or in a batch file). Mutalyzer generates variant descriptions at DNA level, the level of all annotated transcripts and the deduced outcome at protein level. To validate Mutalyzer's performance and to investigate the sequence variant description quality in locus-specific mutation databases (LSDBs), more than 11,000 variants in the PAH, BIC BRCA2, and HbVar databases were analyzed, showing that 87%, 25%, and 38%, respectively, were error-free and following the recommendations. Low recognition rates in BIC and HbVar (38% and 51%, respectively) were due to lack of a well-annotated genomic reference sequence (HbVar) or noncompliance to the guidelines (BRCA2). Provided with well-annotated genomic reference sequences, Mutalyzer is very effective for the curation of newly discovered sequence variation descriptions and existing LSDB data. Mutalyzer will be linked to the Leiden Open source Variation Database (LOVD) (www.LOVD.nl; last accessed 13 September 2007) and is the first module of a sequence variant effect prediction package. (c) 2007 Wiley-Liss, Inc.

  17. HistoneDB 2.0: a histone database with variants--an integrated resource to explore histones and their variants.

    PubMed

    Draizen, Eli J; Shaytan, Alexey K; Mariño-Ramírez, Leonardo; Talbert, Paul B; Landsman, David; Panchenko, Anna R

    2016-01-01

    Compaction of DNA into chromatin is a characteristic feature of eukaryotic organisms. The core (H2A, H2B, H3, H4) and linker (H1) histone proteins are responsible for this compaction through the formation of nucleosomes and higher order chromatin aggregates. Moreover, histones are intricately involved in chromatin functioning and provide a means for genome dynamic regulation through specific histone variants and histone post-translational modifications. 'HistoneDB 2.0--with variants' is a comprehensive database of histone protein sequences, classified by histone types and variants. All entries in the database are supplemented by rich sequence and structural annotations with many interactive tools to explore and compare sequences of different variants from various organisms. The core of the database is a manually curated set of histone sequences grouped into 30 different variant subsets with variant-specific annotations. The curated set is supplemented by an automatically extracted set of histone sequences from the non-redundant protein database using algorithms trained on the curated set. The interactive web site supports various searching strategies in both datasets: browsing of phylogenetic trees; on-demand generation of multiple sequence alignments with feature annotations; classification of histone-like sequences and browsing of the taxonomic diversity for every histone variant. HistoneDB 2.0 is a resource for the interactive comparative analysis of histone protein sequences and their implications for chromatin function. Database URL: http://www.ncbi.nlm.nih.gov/projects/HistoneDB2.0.

  18. MSV3d: database of human MisSense Variants mapped to 3D protein structure.

    PubMed

    Luu, Tien-Dao; Rusu, Alin-Mihai; Walter, Vincent; Ripp, Raymond; Moulinier, Luc; Muller, Jean; Toursel, Thierry; Thompson, Julie D; Poch, Olivier; Nguyen, Hoan

    2012-01-01

    The elucidation of the complex relationships linking genotypic and phenotypic variations to protein structure is a major challenge in the post-genomic era. We present MSV3d (Database of human MisSense Variants mapped to 3D protein structure), a new database that contains detailed annotation of missense variants of all human proteins (20 199 proteins). The multi-level characterization includes details of the physico-chemical changes induced by amino acid modification, as well as information related to the conservation of the mutated residue and its position relative to functional features in the available or predicted 3D model. Major releases of the database are automatically generated and updated regularly in line with the dbSNP (database of Single Nucleotide Polymorphism) and SwissVar releases, by exploiting the extensive Décrypthon computational grid resources. The database (http://decrypthon.igbmc.fr/msv3d) is easily accessible through a simple web interface coupled to a powerful query engine and a standard web service. The content is completely or partially downloadable in XML or flat file formats. Database URL: http://decrypthon.igbmc.fr/msv3d.

  19. The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

    PubMed Central

    Nishio, Shin‐ya

    2017-01-01

    ABSTRACT Recent advances in next‐generation sequencing (NGS) have given rise to new challenges due to the difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases as well as public or commercial disease‐specific databases. Here, we report a new database development tool, named the “Clinical NGS Database,” for improving clinical NGS workflow through the unified management of variant information and clinical information. This database software offers a two‐feature approach to variant pathogenicity classification. The first of these approaches is a phenotype similarity‐based approach. This database allows the easy comparison of the detailed phenotype of each patient with the average phenotype of the same gene mutation at the variant or gene level. It is also possible to browse patients with the same gene mutation quickly. The other approach is a statistical approach to variant pathogenicity classification based on the use of the odds ratio for comparisons between the case and the control for each inheritance mode (families with apparently autosomal dominant inheritance vs. control, and families with apparently autosomal recessive inheritance vs. control). A number of case studies are also presented to illustrate the utility of this database. PMID:28008688

  20. The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

    PubMed

    Nishio, Shin-Ya; Usami, Shin-Ichi

    2017-03-01

    Recent advances in next-generation sequencing (NGS) have given rise to new challenges due to the difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases as well as public or commercial disease-specific databases. Here, we report a new database development tool, named the "Clinical NGS Database," for improving clinical NGS workflow through the unified management of variant information and clinical information. This database software offers a two-feature approach to variant pathogenicity classification. The first of these approaches is a phenotype similarity-based approach. This database allows the easy comparison of the detailed phenotype of each patient with the average phenotype of the same gene mutation at the variant or gene level. It is also possible to browse patients with the same gene mutation quickly. The other approach is a statistical approach to variant pathogenicity classification based on the use of the odds ratio for comparisons between the case and the control for each inheritance mode (families with apparently autosomal dominant inheritance vs. control, and families with apparently autosomal recessive inheritance vs. control). A number of case studies are also presented to illustrate the utility of this database.

  1. eMelanoBase: an online locus-specific variant database for familial melanoma.

    PubMed

    Fung, David C Y; Holland, Elizabeth A; Becker, Therese M; Hayward, Nicholas K; Bressac-de Paillerets, Brigitte; Mann, Graham J

    2003-01-01

    A proportion of melanoma-prone individuals in both familial and non-familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. CDKN2A is a complex locus that encodes two unrelated proteins from alternately spliced transcripts that are read in different frames. The alpha transcript (exons 1alpha, 2, and 3) produces the p16INK4A cyclin-dependent kinase inhibitor, while the beta transcript (exons 1beta and 2) is translated as p14ARF, a stabilizing factor of p53 levels through binding to MDM2. Mutations in exon 2 can impair both polypeptides and insertions and deletions in exons 1alpha, 1beta, and 2, which can theoretically generate p16INK4A-p14ARF fusion proteins. No online database currently takes into account all the consequences of these genotypes, a situation compounded by some problematic previous annotations of CDKN2A-related sequences and descriptions of their mutations. As an initiative of the international Melanoma Genetics Consortium, we have therefore established a database of germline variants observed in all loci implicated in familial melanoma susceptibility. Such a comprehensive, publicly accessible database is an essential foundation for research on melanoma susceptibility and its clinical application. Our database serves two types of data as defined by HUGO. The core dataset includes the nucleotide variants on the genomic and transcript levels, amino acid variants, and citation. The ancillary dataset includes keyword description of events at the transcription and translation levels and epidemiological data. The application that handles users' queries was designed in the model-view-controller architecture and was implemented in Java. The object-relational database schema was deduced using functional dependency analysis. We hereby present our first functional prototype of eMelanoBase. The service is accessible via the URL www.wmi.usyd.edu.au:8080/melanoma.html.

  2. The Database of Genomic Variants: a curated collection of structural variation in the human genome.

    PubMed

    MacDonald, Jeffrey R; Ziman, Robert; Yuen, Ryan K C; Feuk, Lars; Scherer, Stephen W

    2014-01-01

    Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which have expanded the utility of DGV for both the basic research and clinical diagnostic communities. The current version of DGV consists of 55 published studies, comprising >2.5 million entries identified in >22,300 genomes. Studies included in DGV are selected from the accessioned data sets in the archival SV databases dbVar (NCBI) and DGVa (EBI), and then further curated for accuracy and validity. The core visualization tool (gbrowse) has been upgraded with additional functions to facilitate data analysis and comparison, and a new query tool has been developed to provide flexible and interactive access to the data. The content from DGV is regularly incorporated into other large-scale genome reference databases and represents a standard data resource for new product and database development, in particular for copy number variation testing in clinical labs. The accurate cataloguing of variants in DGV will continue to enable medical genetics and genome sequencing research.

  3. Database for Safety-Oriented Tracking of Chemicals

    NASA Technical Reports Server (NTRS)

    Stump, Jacob; Carr, Sandra; Plumlee, Debrah; Slater, Andy; Samson, Thomas M.; Holowaty, Toby L.; Skeete, Darren; Haenz, Mary Alice; Hershman, Scot; Raviprakash, Pushpa

    2010-01-01

    SafetyChem is a computer program that maintains a relational database for tracking chemicals and associated hazards at Johnson Space Center (JSC) by use of a Web-based graphical user interface. The SafetyChem database is accessible to authorized users via a JSC intranet. All new chemicals pass through a safety office, where information on hazards, required personal protective equipment (PPE), fire-protection warnings, and target organ effects (TOEs) is extracted from material safety data sheets (MSDSs) and recorded in the database. The database facilitates real-time management of inventory with attention to such issues as stability, shelf life, reduction of waste through transfer of unused chemicals to laboratories that need them, quantification of chemical wastes, and identification of chemicals for which disposal is required. Upon searching the database for a chemical, the user receives information on physical properties of the chemical, hazard warnings, required PPE, a link to the MSDS, and references to the applicable International Standards Organization (ISO) 9000 standard work instructions and the applicable job hazard analysis. Also, to reduce the labor hours needed to comply with reporting requirements of the Occupational Safety and Health Administration, the data can be directly exported into the JSC hazardous- materials database.

  4. A neuroinformatics database system for disease-oriented neuroimaging research.

    PubMed

    Wong, Stephen T C; Hoo, Kent Soo; Cao, Xinhua; Tjandra, Donny; Fu, J C; Dillon, William P

    2004-03-01

    Clinical databases are continually growing and accruing more patient information. One of the challenges for managing this wealth of data is efficient retrieval and analysis of a broad range of image and non-image patient data from diverse data sources. This article describes the design and implementation of a new class of research data warehouse, neuroinformatics database system (NIDS), which will alleviate these problems for clinicians and researchers studying and treating patients with intractable temporal lobe epilepsy. The NIDS is a secured, multi-tier system that enables the user to gather, proofread, analyze, and store data from multiple underlying sources. In addition to data management, the NIDS provides several key functions including image analysis and processing, free text search of patient reports, construction of general queries, and on-line statistical analysis. The establishment of this integrated research database will serve as a foundation for future hypothesis-driven experiments, which could uncover previously unsuspected correlations and perhaps help to identify new and accurate predictors for image diagnosis.

  5. Reliability database development for use with an object-oriented fault tree evaluation program

    NASA Technical Reports Server (NTRS)

    Heger, A. Sharif; Harringtton, Robert J.; Koen, Billy V.; Patterson-Hine, F. Ann

    1989-01-01

    A description is given of the development of a fault-tree analysis method using object-oriented programming. In addition, the authors discuss the programs that have been developed or are under development to connect a fault-tree analysis routine to a reliability database. To assess the performance of the routines, a relational database simulating one of the nuclear power industry databases has been constructed. For a realistic assessment of the results of this project, the use of one of existing nuclear power reliability databases is planned.

  6. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

    PubMed

    Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie-Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie-Claire; Reboul, Marie-Pierre; Fergelot, Patricia; Lemonnier, Lydie; Mekki, Chadia; Fanen, Pascale; Bergougnoux, Anne; Sasorith, Souphatta; Raynal, Caroline; Bareil, Corinne

    2017-10-01

    Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes. For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator. Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis. CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles. © 2017 Wiley Periodicals, Inc.

  7. VAS: A Vision Advisor System combining agents and object-oriented databases

    NASA Technical Reports Server (NTRS)

    Eilbert, James L.; Lim, William; Mendelsohn, Jay; Braun, Ron; Yearwood, Michael

    1994-01-01

    A model-based approach to identifying and finding the orientation of non-overlapping parts on a tray has been developed. The part models contain both exact and fuzzy descriptions of part features, and are stored in an object-oriented database. Full identification of the parts involves several interacting tasks each of which is handled by a distinct agent. Using fuzzy information stored in the model allowed part features that were essentially at the noise level to be extracted and used for identification. This was done by focusing attention on the portion of the part where the feature must be found if the current hypothesis of the part ID is correct. In going from one set of parts to another the only thing that needs to be changed is the database of part models. This work is part of an effort in developing a Vision Advisor System (VAS) that combines agents and objected-oriented databases.

  8. Integrating heterogeneous databases in clustered medic care environments using object-oriented technology

    NASA Astrophysics Data System (ADS)

    Thakore, Arun K.; Sauer, Frank

    1994-05-01

    The organization of modern medical care environments into disease-related clusters, such as a cancer center, a diabetes clinic, etc., has the side-effect of introducing multiple heterogeneous databases, often containing similar information, within the same organization. This heterogeneity fosters incompatibility and prevents the effective sharing of data amongst applications at different sites. Although integration of heterogeneous databases is now feasible, in the medical arena this is often an ad hoc process, not founded on proven database technology or formal methods. In this paper we illustrate the use of a high-level object- oriented semantic association method to model information found in different databases into an integrated conceptual global model that integrates the databases. We provide examples from the medical domain to illustrate an integration approach resulting in a consistent global view, without attacking the autonomy of the underlying databases.

  9. Performance Measurement of Three Commercial Object-Oriented Database Management Systems

    DTIC Science & Technology

    1993-12-01

    24 2.6 Computer Simulation .............................. 26 2.7 Current Simulation Systems Using Object-Oriented DBMSs. .. 26 2.7.1 Visual...the performance levels offered in current commercial object-oriented database management systems. We also concluded that a programming language...about DBMS benchmarks and current simulations to define a simple simulation. The benchmark was to be qualitative as well as quantitative. The benchmark

  10. dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions.

    PubMed

    Wu, Jiaxin; Wu, Mengmeng; Li, Lianshuo; Liu, Zhuo; Zeng, Wanwen; Jiang, Rui

    2016-01-01

    The recent advancement of the next generation sequencing technology has enabled the fast and low-cost detection of all genetic variants spreading across the entire human genome, making the application of whole-genome sequencing a tendency in the study of disease-causing genetic variants. Nevertheless, there still lacks a repository that collects predictions of functionally damaging effects of human genetic variants, though it has been well recognized that such predictions play a central role in the analysis of whole-genome sequencing data. To fill this gap, we developed a database named dbWGFP (a database and web server of human whole-genome single nucleotide variants and their functional predictions) that contains functional predictions and annotations of nearly 8.58 billion possible human whole-genome single nucleotide variants. Specifically, this database integrates 48 functional predictions calculated by 17 popular computational methods and 44 valuable annotations obtained from various data sources. Standalone software, user-friendly query services and free downloads of this database are available at http://bioinfo.au.tsinghua.edu.cn/dbwgfp. dbWGFP provides a valuable resource for the analysis of whole-genome sequencing, exome sequencing and SNP array data, thereby complementing existing data sources and computational resources in deciphering genetic bases of human inherited diseases.

  11. Constraints on Biological Mechanism from Disease Comorbidity Using Electronic Medical Records and Database of Genetic Variants

    PubMed Central

    Bagley, Steven C.; Sirota, Marina; Chen, Richard; Butte, Atul J.; Altman, Russ B.

    2016-01-01

    Patterns of disease co-occurrence that deviate from statistical independence may represent important constraints on biological mechanism, which sometimes can be explained by shared genetics. In this work we study the relationship between disease co-occurrence and commonly shared genetic architecture of disease. Records of pairs of diseases were combined from two different electronic medical systems (Columbia, Stanford), and compared to a large database of published disease-associated genetic variants (VARIMED); data on 35 disorders were available across all three sources, which include medical records for over 1.2 million patients and variants from over 17,000 publications. Based on the sources in which they appeared, disease pairs were categorized as having predominant clinical, genetic, or both kinds of manifestations. Confounding effects of age on disease incidence were controlled for by only comparing diseases when they fall in the same cluster of similarly shaped incidence patterns. We find that disease pairs that are overrepresented in both electronic medical record systems and in VARIMED come from two main disease classes, autoimmune and neuropsychiatric. We furthermore identify specific genes that are shared within these disease groups. PMID:27115429

  12. Implementation of schema management in STEP-based object-oriented engineering database management system

    NASA Astrophysics Data System (ADS)

    Xiao, Ke; Zhao, Zhige; Sun, Jiaguang

    1996-03-01

    Engineering database management system (EDBMS) is the kernel of CAD/CAM system integration, and object-oriented EDBMS (OOEDBMS) is the best implementation. While STEP is becoming the standard of product data exchange and representation, supporting STEP in engineering database becomes more and more important. In this paper we introduce the architecture of STEP based OOEDBMS in our CAD/CAM integrated system GHCAD. We focus on schema management and three-grade database management in OOEDBMS. Topics such as DDL compiler, transformation from EXPRESS to DDL, DDL tools are discussed. Finally further research directions of schema management in OOEDBMS are present.

  13. An Object-Oriented Approach to Security Policies and their Access Controls for Database Management

    DTIC Science & Technology

    1991-09-01

    single object-oriented database management system . 20 L)ISTRIB8UTION’AVA" AE’U V OF ABSI RACT III AB3STnAC Sz URi lTYCLASi~CA lION 3UNCLASSIFIED...intended for managing production or design assemblies. Thus, the hierarchical data- base system is good for keeping track of product or design assemblies...models and their database systems for oer security applications. Since the use of object-ori- ented approaches to the secure database management is a

  14. Design and Implementation of ROCK & ROLL: A Deductive Object-Oriented Database System.

    ERIC Educational Resources Information Center

    Barja, Maria L.; And Others

    1995-01-01

    Presents the design and implementation of a deductive object-oriented database which is built upon a formally defined data model that uses two languages: an imperative programming language called ROCK (Rule Object Computation Kernel), and a logic language called ROLL (Rule Object Logic Language). (LRW)

  15. Compression of Index Term Dictionary in an Inverted-File-Oriented Database: Some Effective Algorithms.

    ERIC Educational Resources Information Center

    Wisniewski, Janusz L.

    1986-01-01

    Discussion of a new method of index term dictionary compression in an inverted-file-oriented database highlights a technique of word coding, which generates short fixed-length codes obtained from the index terms themselves by analysis of monogram and bigram statistical distributions. Substantial savings in communication channel utilization are…

  16. Compression of Index Term Dictionary in an Inverted-File-Oriented Database: Some Effective Algorithms.

    ERIC Educational Resources Information Center

    Wisniewski, Janusz L.

    1986-01-01

    Discussion of a new method of index term dictionary compression in an inverted-file-oriented database highlights a technique of word coding, which generates short fixed-length codes obtained from the index terms themselves by analysis of monogram and bigram statistical distributions. Substantial savings in communication channel utilization are…

  17. Construction and assessment of individualized proteogenomic databases for large-scale analysis of nonsynonymous single nucleotide variants.

    PubMed

    Krug, Karsten; Popic, Sasa; Carpy, Alejandro; Taumer, Christoph; Macek, Boris

    2014-12-01

    Next-generation sequencing projects focusing on genomes and transcriptomes identify millions of single nucleotide variants (SNVs), many of which result in single amino acid substitutions. These nonsynonymous (ns) SNVs are typically not incorporated into protein sequence databases used to identify MS/MS data. Here, we perform a comparative analysis of the assembly of nsSNV-containing proteogenomic databases. We use a comprehensive transcriptome and proteome dataset of HeLa cells from the literature to derive and to incorporate SNVs into databases applicable to proteomics search engines, and to assess their performance in the identification of nsSNVs. We assemble the databases by (1) translation of SNV-containing transcripts into all possible reading frames, (2) translation of predicted reading frame, (3) prediction of nsSNVs and subsequent incorporation into canonical protein sequences. We show substantial differences between generated databases in terms of represented nsSNVs and theoretical search space, affecting sensitivity and specificity of database search. We query the databases with >2.2M high-resolution MS/MS spectra using MaxQuant software and identify 451 variant peptides, containing 401 nsSNVs. We conclude that prediction of reading frame and, if applicable, SNV effect result in comprehensive yet compact databases necessary to retain sensitivity in large-scale analysis of nsSNVs called from transcriptomics data. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  18. Tight control of light beams in photonic crystals with spatially-variant lattice orientation.

    PubMed

    Digaum, Jennefir L; Pazos, Javier J; Chiles, Jeffrey; D'Archangel, Jeffrey; Padilla, Gabriel; Tatulian, Adrian; Rumpf, Raymond C; Fathpour, Sasan; Boreman, Glenn D; Kuebler, Stephen M

    2014-10-20

    Spatially-variant photonic crystals (SVPCs), in which the orientation of the unit cell changes as a function of position, are shown to be capable of abruptly controlling light beams using just low index materials and can be made to have high polarization selectivity. Multi-photon direct laser writing in the photo-polymer SU-8 was used to fabricate three-dimensional SVPCs that direct the flow of light around a 90 degree bend. The lattice spacing and fill factor were maintained nearly constant throughout the structure. The SVPCs were characterized at a wavelength of 2.94 μm by scanning the faces with optical fibers and the results were compared to electromagnetic simulations. The lattices were shown to direct infrared light of one polarization through sharp bends while the other polarization propagated straight through the SVPC. This work introduces a new scheme for controlling light that should be useful for integrated photonics.

  19. A Toolkit for Active Object-Oriented Databases with Application to Interoperability

    NASA Technical Reports Server (NTRS)

    King, Roger

    1996-01-01

    In our original proposal we stated that our research would 'develop a novel technology that provides a foundation for collaborative information processing.' The essential ingredient of this technology is the notion of 'deltas,' which are first-class values representing collections of proposed updates to a database. The Heraclitus framework provides a variety of algebraic operators for building up, combining, inspecting, and comparing deltas. Deltas can be directly applied to the database to yield a new state, or used 'hypothetically' in queries against the state that would arise if the delta were applied. The central point here is that the step of elevating deltas to 'first-class' citizens in database programming languages will yield tremendous leverage on the problem of supporting updates in collaborative information processing. In short, our original intention was to develop the theoretical and practical foundation for a technology based on deltas in an object-oriented database context, develop a toolkit for active object-oriented databases, and apply this toward collaborative information processing.

  20. A Toolkit for Active Object-Oriented Databases with Application to Interoperability

    NASA Technical Reports Server (NTRS)

    King, Roger

    1996-01-01

    In our original proposal we stated that our research would 'develop a novel technology that provides a foundation for collaborative information processing.' The essential ingredient of this technology is the notion of 'deltas,' which are first-class values representing collections of proposed updates to a database. The Heraclitus framework provides a variety of algebraic operators for building up, combining, inspecting, and comparing deltas. Deltas can be directly applied to the database to yield a new state, or used 'hypothetically' in queries against the state that would arise if the delta were applied. The central point here is that the step of elevating deltas to 'first-class' citizens in database programming languages will yield tremendous leverage on the problem of supporting updates in collaborative information processing. In short, our original intention was to develop the theoretical and practical foundation for a technology based on deltas in an object- oriented database context, develop a toolkit for active object-oriented databases, and apply this toward collaborative information processing.

  1. A comparative study of six European databases of medically oriented Web resources

    PubMed Central

    Abad García, Francisca; González Teruel, Aurora; Bayo Calduch, Patricia; de Ramón Frias, Rosa; Castillo Blasco, Lourdes

    2005-01-01

    Objectives: The paper describes six European medically oriented databases of Web resources, pertaining to five quality-controlled subject gateways, and compares their performance. Method: The characteristics, coverage, procedure for selecting Web resources, record structure, searching possibilities, and existence of user assistance were described for each database. Performance indicators for each database were obtained by means of searches carried out using the key words, “myocardial infarction.” Results: Most of the databases originated in the 1990s in an academic or library context and include all types of Web resources of an international nature. Five databases use Medical Subject Headings. The number of fields per record varies between three and nineteen. The language of the search interfaces is mostly English, and some of them allow searches in other languages. In some databases, the search can be extended to Pubmed. Organizing Medical Networked Information, Catalogue et Index des Sites Médicaux Francophones, and Diseases, Disorders and Related Topics produced the best results. Conclusions: The usefulness of these databases as quick reference resources is clear. In addition, their lack of content overlap means that, for the user, they complement each other. Their continued survival faces three challenges: the instability of the Internet, maintenance costs, and lack of use in spite of their potential usefulness. PMID:16239943

  2. Crystallographic Texture and Orientation Variants in Al2O3-Y3Al5O12 Directionally Solidified Eutectic Crystals

    NASA Technical Reports Server (NTRS)

    Frazer, Colleen S.; Dickey, Elizabeth C.; Sayir, Ali; Farmer, Serene (Technical Monitor)

    2001-01-01

    Eutectic rods of Al2O3 and Y3Al5O12 were grown by a laser-heated float zone method, and their microstructure and crystallographic texture were studied by scanning electron microscopy, electron backscattered diffraction and x-ray diffraction. The composites were found to be highly textured with two twin-related crystallographic orientation relationships between the phases. Electron backscattered diffraction was employed to determine the spatial distribution of the orientational variants within the samples and to define the crystallographic orientation of various microstructural features.

  3. EBSD imaging of orientation relationships and variant groupings in different martensitic alloys and Widmanstätten iron meteorites

    SciTech Connect

    Cayron, Cyril

    2014-08-15

    An automatic method to colorize and quantify the classical Pitsch, Kurdjumov–Sachs, Greninger–Troiano and Nishiyama–Wasserman orientation relationships in the electron backscatter diffraction maps of martensitic/bainitic steels is detailed. Automatic analysis of variant grouping is also presented. The method was applied to low and high carbon steels, and to iron–nickel Widmanstätten meteorites. Many results of recent literature are confirmed. In low carbon steels the individual laths exhibit continuous orientation gradients between the classical orientation relationships, and the laths tend to be grouped by close-packed plane (morphological) packets. A crystallographic scenario describing the formation of the packets is proposed on the base of the one-step model. When the carbon content increases, the orientation spreading is reduced; and martensite tends to form plate groups and burst configurations. In iron–nickel meteorites, the centimeter long Widmanstätten laths do not exhibit continuous orientation gradients but are constituted of subgrains with uniform orientation relationship; the kamacite grains in the plessite regions are grouped into Bain zones, probably due to a recrystallization during the slow cooling of the meteorites. - Highlights: • Analysis of different low and high carbon steels and Widmanstätten meteorites • Automatic color mapping of the classical orientation relationships in EBSD maps • Quantification of variant pairing and grouping tendencies • Crystallographic scenario for the formation of morphological packets.

  4. ARACHNID: A prototype object-oriented database tool for distributed systems

    NASA Technical Reports Server (NTRS)

    Younger, Herbert; Oreilly, John; Frogner, Bjorn

    1994-01-01

    This paper discusses the results of a Phase 2 SBIR project sponsored by NASA and performed by MIMD Systems, Inc. A major objective of this project was to develop specific concepts for improved performance in accessing large databases. An object-oriented and distributed approach was used for the general design, while a geographical decomposition was used as a specific solution. The resulting software framework is called ARACHNID. The Faint Source Catalog developed by NASA was the initial database testbed. This is a database of many giga-bytes, where an order of magnitude improvement in query speed is being sought. This database contains faint infrared point sources obtained from telescope measurements of the sky. A geographical decomposition of this database is an attractive approach to dividing it into pieces. Each piece can then be searched on individual processors with only a weak data linkage between the processors being required. As a further demonstration of the concepts implemented in ARACHNID, a tourist information system is discussed. This version of ARACHNID is the commercial result of the project. It is a distributed, networked, database application where speed, maintenance, and reliability are important considerations. This paper focuses on the design concepts and technologies that form the basis for ARACHNID.

  5. Architecture of a large object-oriented database for remotely sensed data

    NASA Technical Reports Server (NTRS)

    Dorfman, Erik

    1991-01-01

    Attention is given to the proposed Intelligent Information Fusion System (IIFS) within the framework of the Intelligent Data Management project at NASA-Goddard. IIFS is to use connectionist architectures to extract high-level attributes from incoming sensor images, and then send those characterizations and their associated ephemeris and ancillary image data to a large object-oriented database which will serve as the master catalog of sensor data. Important issues facing this project include the choice of rapid-access data structures (RADSs) for cataloging images by their high-level characterization, the implementation of efficient spatial data structures for cataloging images by their scene location, the automated population of such a database from a continuous stream of incoming ephemeris and ancillary data, and the translation and optimization of natural-language database queries so that RADSs are employed when appropriate.

  6. Inbred Strain Variant Database (ISVdb): A Repository for Probabilistically Informed Sequence Differences Among the Collaborative Cross Strains and Their Founders

    PubMed Central

    Oreper, Daniel; Cai, Yanwei; Tarantino, Lisa M.; de Villena, Fernando Pardo-Manuel; Valdar, William

    2017-01-01

    The Collaborative Cross (CC) is a panel of recently established multiparental recombinant inbred mouse strains. For the CC, as for any multiparental population (MPP), effective experimental design and analysis benefit from detailed knowledge of the genetic differences between strains. Such differences can be directly determined by sequencing, but until now whole-genome sequencing was not publicly available for individual CC strains. An alternative and complementary approach is to infer genetic differences by combining two pieces of information: probabilistic estimates of the CC haplotype mosaic from a custom genotyping array, and probabilistic variant calls from sequencing of the CC founders. The computation for this inference, especially when performed genome-wide, can be intricate and time-consuming, requiring the researcher to generate nontrivial and potentially error-prone scripts. To provide standardized, easy-to-access CC sequence information, we have developed the Inbred Strain Variant Database (ISVdb). The ISVdb provides, for all the exonic variants from the Sanger Institute mouse sequencing dataset, direct sequence information for CC founders and, critically, the imputed sequence information for CC strains. Notably, the ISVdb also: (1) provides predicted variant consequence metadata; (2) allows rapid simulation of F1 populations; and (3) preserves imputation uncertainty, which will allow imputed data to be refined in the future as additional sequencing and genotyping data are collected. The ISVdb information is housed in an SQL database and is easily accessible through a custom online interface (http://isvdb.unc.edu), reducing the analytic burden on any researcher using the CC. PMID:28592645

  7. WWW-based access to object-oriented clinical databases: the KHOSPAD project.

    PubMed

    Pinciroli, F; Portoni, L; Combi, C; Violante, F F

    1998-09-01

    KHOSPAD is a project aiming at improving the quality of the process of patient care concerning general practitioner-patient-hospital relationships, using current information and networking technologies. The studied application field is a cardiology division, with hemodynamic laboratory and the population of PTCA patients. Data related to PTCA patients are managed by ARCADIA, an object-oriented database management system developed for the considered clinical setting. We defined a remotely accessible view of ARCADIA medical record, suitable for general practitioners (GPs) caring patients after PTCA, during the follow-up period. Using a PC, a modem and Internet, an authorized GP can consult remotely the medical records of his PTCA patients. Main features of the application are related to the management and display of complex data, specifically characterized by multimedia and temporal features, based on an object-oriented temporal data model.

  8. Action-Oriented Benchmarking: Using the CEUS Database to Benchmark Commercial Buildings in California

    SciTech Connect

    Mathew, Paul; Mills, Evan; Bourassa, Norman; Brook, Martha

    2008-02-01

    The 2006 Commercial End Use Survey (CEUS) database developed by the California Energy Commission is a far richer source of energy end-use data for non-residential buildings than has previously been available and opens the possibility of creating new and more powerful energy benchmarking processes and tools. In this article--Part 2 of a two-part series--we describe the methodology and selected results from an action-oriented benchmarking approach using the new CEUS database. This approach goes beyond whole-building energy benchmarking to more advanced end-use and component-level benchmarking that enables users to identify and prioritize specific energy efficiency opportunities - an improvement on benchmarking tools typically in use today.

  9. SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.

    PubMed

    Kahn, Ari B; Ryan, Michael C; Liu, Hongfang; Zeeberg, Barry R; Jamison, D Curtis; Weinstein, John N

    2007-03-05

    There are many fewer genes in the human genome than there are expressed transcripts. Alternative splicing is the reason. Alternatively spliced transcripts are often specific to tissue type, developmental stage, environmental condition, or disease state. Accurate analysis of microarray expression data and design of new arrays for alternative splicing require assessment of probes at the sequence and exon levels. SpliceMiner is a web interface for querying Evidence Viewer Database (EVDB). EVDB is a comprehensive, non-redundant compendium of splice variant data for human genes. We constructed EVDB as a queryable implementation of the NCBI Evidence Viewer (EV). EVDB is based on data obtained from NCBI Entrez Gene and EV. The automated EVDB build process uses only complete coding sequences, which may or may not include partial or complete 5' and 3' UTRs, and filters redundant splice variants. Unlike EV, which supports only one-at-a-time queries, SpliceMiner supports high-throughput batch queries and provides results in an easily parsable format. SpliceMiner maps probes to splice variants, effectively delineating the variants identified by a probe. EVDB can be queried by gene symbol, genomic coordinates, or probe sequence via a user-friendly web-based tool we call SpliceMiner (http://discover.nci.nih.gov/spliceminer). The EVDB/SpliceMiner combination provides an interface with human splice variant information and, going beyond the very valuable NCBI Evidence Viewer, supports fluent, high-throughput analysis. Integration of EVDB information into microarray analysis and design pipelines has the potential to improve the analysis and bioinformatic interpretation of gene expression data, for both batch and interactive processing. For example, whenever a gene expression value is recognized as important or appears anomalous in a microarray experiment, the interactive mode of SpliceMiner can be used quickly and easily to check for possible splice variant issues.

  10. Concept-oriented indexing of video databases: toward semantic sensitive retrieval and browsing.

    PubMed

    Fan, Jianping; Luo, Hangzai; Elmagarmid, Ahmed K

    2004-07-01

    Digital video now plays an important role in medical education, health care, telemedicine and other medical applications. Several content-based video retrieval (CBVR) systems have been proposed in the past, but they still suffer from the following challenging problems: semantic gap, semantic video concept modeling, semantic video classification, and concept-oriented video database indexing and access. In this paper, we propose a novel framework to make some advances toward the final goal to solve these problems. Specifically, the framework includes: 1) a semantic-sensitive video content representation framework by using principal video shots to enhance the quality of features; 2) semantic video concept interpretation by using flexible mixture model to bridge the semantic gap; 3) a novel semantic video-classifier training framework by integrating feature selection, parameter estimation, and model selection seamlessly in a single algorithm; and 4) a concept-oriented video database organization technique through a certain domain-dependent concept hierarchy to enable semantic-sensitive video retrieval and browsing.

  11. Establishment of an international database for genetic variants in esophageal cancer.

    PubMed

    Vihinen, Mauno

    2016-10-01

    The establishment of a database has been suggested in order to collect, organize, and distribute genetic information about esophageal cancer. The World Organization for Specialized Studies on Diseases of the Esophagus and the Human Variome Project will be in charge of a central database of information about esophageal cancer-related variations from publications, databases, and laboratories; in addition to genetic details, clinical parameters will also be included. The aim will be to get all the central players in research, clinical, and commercial laboratories to contribute. The database will follow established recommendations and guidelines. The database will require a team of dedicated curators with different backgrounds. Numerous layers of systematics will be applied to facilitate computational analyses. The data items will be extensively integrated with other information sources. The database will be distributed as open access to ensure exchange of the data with other databases. Variations will be reported in relation to reference sequences on three levels--DNA, RNA, and protein-whenever applicable. In the first phase, the database will concentrate on genetic variations including both somatic and germline variations for susceptibility genes. Additional types of information can be integrated at a later stage.

  12. ASPicDB: a database of annotated transcript and protein variants generated by alternative splicing.

    PubMed

    Martelli, Pier L; D'Antonio, Mattia; Bonizzoni, Paola; Castrignanò, Tiziana; D'Erchia, Anna M; D'Onorio De Meo, Paolo; Fariselli, Piero; Finelli, Michele; Licciulli, Flavio; Mangiulli, Marina; Mignone, Flavio; Pavesi, Giulio; Picardi, Ernesto; Rizzi, Raffaella; Rossi, Ivan; Valletti, Alessio; Zauli, Andrea; Zambelli, Federico; Casadio, Rita; Pesole, Graziano

    2011-01-01

    Alternative splicing is emerging as a major mechanism for the expansion of the transcriptome and proteome diversity, particularly in human and other vertebrates. However, the proportion of alternative transcripts and proteins actually endowed with functional activity is currently highly debated. We present here a new release of ASPicDB which now provides a unique annotation resource of human protein variants generated by alternative splicing. A total of 256,939 protein variants from 17,191 multi-exon genes have been extensively annotated through state of the art machine learning tools providing information of the protein type (globular and transmembrane), localization, presence of PFAM domains, signal peptides, GPI-anchor propeptides, transmembrane and coiled-coil segments. Furthermore, full-length variants can be now specifically selected based on the annotation of CAGE-tags and polyA signal and/or polyA sites, marking transcription initiation and termination sites, respectively. The retrieval can be carried out at gene, transcript, exon, protein or splice site level allowing the selection of data sets fulfilling one or more features settled by the user. The retrieval interface also enables the selection of protein variants showing specific differences in the annotated features. ASPicDB is available at http://www.caspur.it/ASPicDB/.

  13. RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins

    PubMed Central

    Mao, Fengbiao; Xiao, Luoyuan; Li, Xianfeng; Liang, Jialong; Teng, Huajing; Cai, Wanshi; Sun, Zhong Sheng

    2016-01-01

    Transcription factors bind to the genome by forming specific contacts with the primary DNA sequence; however, RNA-binding proteins (RBPs) have greater scope to achieve binding specificity through the RNA secondary structure. It has been revealed that single nucleotide variants (SNVs) that alter RNA structure, also known as RiboSNitches, exhibit 3-fold greater local structure changes than replicates of the same DNA sequence, demonstrated by the fact that depletion of RiboSNitches could result in the alteration of specific RNA shapes at thousands of sites, including 3′ UTRs, binding sites of microRNAs and RBPs. However, the network between SNVs and post-transcriptional regulation remains unclear. Here, we developed RBP-Var, a database freely available at http://www.rbp-var.biols.ac.cn/, which provides annotation of functional variants involved in post-transcriptional interaction and regulation. RBP-Var provides an easy-to-use web interface that allows users to rapidly find whether SNVs of interest can transform the secondary structure of RNA and identify RBPs whose binding may be subsequently disrupted. RBP-Var integrates DNA and RNA biology to understand how various genetic variants and post-transcriptional mechanisms cooperate to orchestrate gene expression. In summary, RBP-Var is useful in selecting candidate SNVs for further functional studies and exploring causal SNVs underlying human diseases. PMID:26635394

  14. Converting an integrated hospital formulary into an object-oriented database representation.

    PubMed

    Gu, H; Liu, L M; Halper, M; Geller, J; Perl, Y

    1998-01-01

    Controlled Medical Vocabularies (CMVs) have proven to be extremely useful in their support of the tasks of information sharing and integration, communication among various software applications, and decision support. Modeling a CMV as an Object-Oriented Database (OODB) provides additional benefits such as increased support for vocabulary comprehension and flexible access. In this paper, we describe the process of modeling and converting an existing integrated hospital formulary (i.e., set of pharmacological concepts) into an equivalent OODB representation, which, in general, we refer to as an Object-Oriented Healthcare Vocabulary Repository (OOHVR). The source for our example OOHVR is a formulary provided by the Connecticut Healthcare Research and Education Foundation (CHREF). Utilizing this source formulary together with the semantic hierarchy composed of major and minor drug classes defined as part of the National Drug Code (NDC) directory, we constructed a CMV that was eventually converted into its OOHVR form (the CHREF-OOHVR). The actual conversion step was carried out automatically by a program, called the OOHVR Generator, that we have developed. At present, the CHREF-OOHVR is running on top of ONTOS, a commercial OODB management system, and is accessible on the Web.

  15. The utilization of neural nets in populating an object-oriented database

    NASA Technical Reports Server (NTRS)

    Campbell, William J.; Hill, Scott E.; Cromp, Robert F.

    1989-01-01

    Existing NASA supported scientific data bases are usually developed, managed and populated in a tedious, error prone and self-limiting way in terms of what can be described in a relational Data Base Management System (DBMS). The next generation Earth remote sensing platforms (i.e., Earth Observation System, (EOS), will be capable of generating data at a rate of over 300 Mbs per second from a suite of instruments designed for different applications. What is needed is an innovative approach that creates object-oriented databases that segment, characterize, catalog and are manageable in a domain-specific context and whose contents are available interactively and in near-real-time to the user community. Described here is work in progress that utilizes an artificial neural net approach to characterize satellite imagery of undefined objects into high-level data objects. The characterized data is then dynamically allocated to an object-oriented data base where it can be reviewed and assessed by a user. The definition, development, and evolution of the overall data system model are steps in the creation of an application-driven knowledge-based scientific information system.

  16. Engineering design optimization capability using object-oriented programming method with database management system

    SciTech Connect

    Lee, Hueihuang.

    1989-01-01

    Recent advances in computer hardware and software techniques offer opportunities to create large-scale engineering design systems that were once thought to be impossible or impractical. Incorporating existing software systems into an integrated engineering design system and creating new capabilities in the integrated system are challenging problems in the area of engineering software design. The creation of such a system is a large and complex project. Furthermore the engineering design system usually needs to be modified and extended quite often because of continuing developments in engineering theories and practice. Confronted with such a massive, complex, and volatile project, the program developers have been attempting to devise systematic approaches to complete the software system and maintain its understandability, modifiability, reliability, and efficiency (Ross, Goodenough, and Irvine, 1975). Considerable efforts have been made toward achieving these goals. They include the discipline of software engineering, the database management techniques, and the software design methodologies. Among the software design methods, the object-oriented approach has been very successful in the past years. This can be reflected from the supports of the object-oriented programming paradigm in the popular programming languages such as Ada (1983) and C++ (Stroustrup, 1986). A new RQP algorithm based on augmented Lagrangian is implemented into the system in a relatively short time. These capabilities demonstrate the extendibility of IDESIGN-10. The process of developing the new RQP algorithm is presented in depth as a complete demonstration of object-oriented programming in engineering applications. A preliminary evaluation of the algorithm shows that it has potential for engineering applications; however it needs to be further developed.

  17. Introduction to CHRS CONNECT - a global extreme precipitation event database using object-oriented approach

    NASA Astrophysics Data System (ADS)

    Nguyen, P.; Thorstensen, A. R.; Liu, H.; Sellars, S. L.; Ashouri, H.; Huynh, P.; Palacios, T.; Li, P.; Tran, H.; Braithwaite, D.; Hsu, K. L.; Gao, X.; Sorooshian, S.

    2015-12-01

    Extreme precipitation events cause natural disasters that impact many parts of the world. Understanding how these events vary in space and time is a key goal in climatology research. The recently developed CHRS CONNECT (Center for Hydrometeorology & Remote Sensing CONNected precipitation objECT) system is a global extreme precipitation event database derived from CHRS's satellite precipitation data products, including PERSIANN (Precipitation Estimation from Remotely Sensed Information using Artificial Neural Networks) and PERSIANN-CDR (Climate Data Record). Precipitation data from PERSIANN is hourly, 0.25ox0.25o grid, 60oS - 60oN, from 2000 to 2015, and data from PERSIANN-CDR is daily, 0.25ox0.25o grid, 60oS - 60oN, from 1983 to 2015. We used an advanced method in computer science which represents a data point on a three dimensional grid (longitude, latitude and time) called volumetric pixel or voxel. An object segmentation algorithm was developed to derive precipitation events as objects. In each object, voxels are connected to each other through the 26 connectivity faces (a voxel is connected to a neighboring voxel if they share a common face). The object-oriented algorithm was designed to provide a unique means in which extreme precipitation events and their attributes can be stored in a searchable database. This database is accessible through a user-friendly interface (connect.eng.uci.edu), allowing the user to retrieve events that fit specific criteria of interest such as spatiotemporal domain, maximum intensity, minimum duration and climatology indices. The interface includes several modes for visualization such as total precipitation, event tracking, and event evolution animation. The CHRS CONNECT tool is designed to be used for climatology research related to extreme precipitation events as well as for water resources management applications.

  18. A database of crystal preferred orientation of olivine in upper mantle rocks

    NASA Astrophysics Data System (ADS)

    Mainprice, D.

    2012-12-01

    Olivine is the most volumetrically abundant mineral in the Earth's upper mantle, as such it dominates the mechanical and physical properties and has a controlling influence of the geodynamics of plate tectonics. Since the pioneering work of Hess and others we know that seismic anisotropy of the shallow mantle is related to olivine and it's crystal preferred orientation (CPO). With advent of plate tectonics the understanding of the key role of peridotite rocks became a major scientific objective and the measurement CPO of olivine in upper mantle samples became an important tool for studying the kinematics of these rocks. Our group originally lead by Adolphe Nicolas introduced the systematic use of CPO measured by U-stage for field studies all over the world for over 30 years, this tradition was extended in last 15 years by the use of electron back-scattered diffraction (EBSD) to study of CPO and the associated digital microstructure. It is an appropriate time to analysis this significant database of olivine CPO, which represents the work of our group, both present and former members, as well as collaborating colleagues. It is also interesting to compare the natural record as illustrated by our database in the light of recent experimental results stimulated by the extended ranges in temperature, pressure and finite strain, as well as intrinsic olivine variables such as hydrogen content. To analysis the database, which is heterogeneous because it is constructed from the individual work of many people over a 45 year period containing U-stage data and EBSD measurements (manual indexing point per grain, automatic indexing one point per grain, automatic indexing gridded mapping data) of various formats, we need a flexible software tool that can handle large volumes of data in consistent way. We have used the state-of-art open source MTEX toolbox for quantitative texture analysis. MTEX is a scriptable MATLAB toolbox, which permits all aspects of quantitative texture

  19. Planning tasks for knowledge discovery in databases; Performing task-oriented user-guidance

    SciTech Connect

    Engels, R.

    1996-12-31

    Performing the complex task of Knowledge Discovery in Databases (KDD) requires a break-down of the task-complexity to enable the possibility of performing the KDD-task. Since even more techniques will appear in the future that can solve a variety of KDD-problems, a domain expert that wants to analyze his domain should have the means to work with tools that integrate several of these techniques as well as the techniques themselves. In this paper a framework is proposed for a strategy component that is to be used for a KDD-system that can guide users in breaking down the complexity of a typical KDD-task and supports him in selecting and using several ML-techniques. The goals of such a guidance component are reuse of (predefined) taskcomponents in order to decrease development time and to simplify the process of decomposing a KDD-task, task-oriented planning in order to break down complexity of a typical KDD-task and supporting post-processing (evaluation) of KDD-processes.

  20. HistoneDB 2.0: a histone database with variants—an integrated resource to explore histones and their variants

    PubMed Central

    Draizen, Eli J.; Shaytan, Alexey K.; Mariño-Ramírez, Leonardo; Talbert, Paul B.; Landsman, David; Panchenko, Anna R.

    2016-01-01

    Compaction of DNA into chromatin is a characteristic feature of eukaryotic organisms. The core (H2A, H2B, H3, H4) and linker (H1) histone proteins are responsible for this compaction through the formation of nucleosomes and higher order chromatin aggregates. Moreover, histones are intricately involved in chromatin functioning and provide a means for genome dynamic regulation through specific histone variants and histone post-translational modifications. ‘HistoneDB 2.0 – with variants’ is a comprehensive database of histone protein sequences, classified by histone types and variants. All entries in the database are supplemented by rich sequence and structural annotations with many interactive tools to explore and compare sequences of different variants from various organisms. The core of the database is a manually curated set of histone sequences grouped into 30 different variant subsets with variant-specific annotations. The curated set is supplemented by an automatically extracted set of histone sequences from the non-redundant protein database using algorithms trained on the curated set. The interactive web site supports various searching strategies in both datasets: browsing of phylogenetic trees; on-demand generation of multiple sequence alignments with feature annotations; classification of histone-like sequences and browsing of the taxonomic diversity for every histone variant. HistoneDB 2.0 is a resource for the interactive comparative analysis of histone protein sequences and their implications for chromatin function. Database URL: http://www.ncbi.nlm.nih.gov/projects/HistoneDB2.0 PMID:26989147

  1. Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients

    PubMed Central

    Kortuem, K M; Braggio, E; Bruins, L; Barrio, S; Shi, C S; Zhu, Y X; Tibes, R; Viswanatha, D; Votruba, P; Ahmann, G; Fonseca, R; Jedlowski, P; Schlam, I; Kumar, S; Bergsagel, P L; Stewart, A K

    2016-01-01

    We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M3P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M3Pv2.0 includes 77 genes selected for being either actionable targets, potentially related to drug–response or part of known key pathways in MM biology. We identified mutations in potentially actionable genes in 49% of patients and provided prognostic evidence of STAT3 mutations. This panel may serve as a practical alternative to more comprehensive sequencing approaches, providing genomic information in a timely and cost-effective manner, thus allowing clinically oriented variant screening in MM. PMID:26918361

  2. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

    PubMed

    Thompson, Bryony A; Spurdle, Amanda B; Plazzer, John-Paul; Greenblatt, Marc S; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P; Farrington, Susan M; Frayling, Ian M; Frebourg, Thierry; Goldgar, David E; Heinen, Christopher D; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J; Sijmons, Rolf; Tavtigian, Sean V; Tops, Carli M; Weber, Thomas; Wijnen, Juul; Woods, Michael O; Macrae, Finlay; Genuardi, Maurizio

    2014-02-01

    The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

  3. Using semantic data modeling techniques to organize an object-oriented database for extending the mass storage model

    NASA Technical Reports Server (NTRS)

    Campbell, William J.; Short, Nicholas M., Jr.; Roelofs, Larry H.; Dorfman, Erik

    1991-01-01

    A methodology for optimizing organization of data obtained by NASA earth and space missions is discussed. The methodology uses a concept based on semantic data modeling techniques implemented in a hierarchical storage model. The modeling is used to organize objects in mass storage devices, relational database systems, and object-oriented databases. The semantic data modeling at the metadata record level is examined, including the simulation of a knowledge base and semantic metadata storage issues. The semantic data model hierarchy and its application for efficient data storage is addressed, as is the mapping of the application structure to the mass storage.

  4. Using semantic data modeling techniques to organize an object-oriented database for extending the mass storage model

    NASA Technical Reports Server (NTRS)

    Campbell, William J.; Short, Nicholas M., Jr.; Roelofs, Larry H.; Dorfman, Erik

    1991-01-01

    A methodology for optimizing organization of data obtained by NASA earth and space missions is discussed. The methodology uses a concept based on semantic data modeling techniques implemented in a hierarchical storage model. The modeling is used to organize objects in mass storage devices, relational database systems, and object-oriented databases. The semantic data modeling at the metadata record level is examined, including the simulation of a knowledge base and semantic metadata storage issues. The semantic data model hierarchy and its application for efficient data storage is addressed, as is the mapping of the application structure to the mass storage.

  5. VSGdb: a database for trypanosome variant surface glycoproteins, a large and diverse family of coiled coil proteins

    PubMed Central

    Marcello, Lucio; Menon, Suraj; Ward, Pauline; Wilkes, Jonathan M; Jones, Nicola G; Carrington, Mark; Barry, J David

    2007-01-01

    Background Trypanosomes are coated with a variant surface glycoprotein (VSG) that is so densely packed that it physically protects underlying proteins from effectors of the host immune system. Periodically cells expressing a distinct VSG arise in a population and thereby evade immunity. The main structural feature of VSGs are two long α-helices that form a coiled coil, and sets of relatively unstructured loops that are distal to the plasma membrane and contain most or all of the protective epitopes. The primary structure of different VSGs is highly variable, typically displaying only ~20% identity with each other. The genome has nearly 2000 VSG genes, which are located in subtelomeres. Only one VSG gene is expressed at a time, and switching between VSGs primarily involves gene conversion events. The archive of silent VSGs undergoes diversifying evolution rapidly, also involving gene conversion. The VSG family is a paradigm for α helical coiled coil structures, epitope variation and GPI-anchor signals. At the DNA level, the genes are a paradigm for diversifying evolutionary processes and for the role of subtelomeres and recombination mechanisms in generation of diversity in multigene families. To enable ready availability of VSG sequences for addressing these general questions, and trypanosome-specific questions, we have created VSGdb, a database of all known sequences. Description VSGdb contains fully annotated VSG sequences from the genome sequencing project, with which it shares all identifiers and annotation, and other available sequences. The database can be queried in various ways. Sequence retrieval, in FASTA format, can deliver protein or nucleotide sequence filtered by chromosomes or contigs, gene type (functional, pseudogene, etc.), domain and domain sequence family. Retrieved sequences can be stored as a temporary database for BLAST querying, reports from which include hyperlinks to the genome project database (GeneDB) CDS Info and to individual VSGdb

  6. Nominal ISOMERs (Incorrect Spellings Of Medicines Eluding Researchers)-variants in the spellings of drug names in PubMed: a database review.

    PubMed

    Ferner, Robin E; Aronson, Jeffrey K

    2016-12-14

     To examine how misspellings of drug names could impede searches for published literature.  Database review.  PubMed.  The study included 30 drug names that are commonly misspelt on prescription charts in hospitals in Birmingham, UK (test set), and 30 control names randomly chosen from a hospital formulary (control set). The following definitions were used: standard names-the international non-proprietary names, variant names-deviations in spelling from standard names that are not themselves standard names in English language nomenclature, and hidden reference variants-variant spellings that identified publications in textword (tw) searches of PubMed or other databases, and which were not identified by textword searches for the standard names. Variant names were generated from standard names by applying letter substitutions, omissions, additions, transpositions, duplications, deduplications, and combinations of these. Searches were carried out in PubMed (30 June 2016) for "standard name[tw]" and "variant name[tw] NOT standard name[tw]."  The 30 standard names of drugs in the test set gave 325 979 hits in total, and 160 hidden reference variants gave 3872 hits (1.17%). The standard names of the control set gave 470 064 hits, and 79 hidden reference variants gave 766 hits (0.16%). Letter substitutions (particularly i to y and vice versa) and omissions together accounted for 2924 (74%) of the variants. Amitriptyline (8530 hits) yielded 18 hidden reference variants (179 (2.1%) hits). Names ending in "in," "ine," or "micin" were commonly misspelt. Failing to search for hidden reference variants of "gentamicin," "amitriptyline," "mirtazapine," and "trazodone" would miss at least 19 systematic reviews. A hidden reference variant related to Christmas, "No-el", was rare; variants of "X-miss" were rarer.  When performing searches, researchers should include misspellings of drug names among their search terms. Published by the BMJ Publishing Group Limited. For

  7. Initial experiences with building a health care infrastructure based on Java and object-oriented database technology.

    PubMed Central

    Dionisio, J. D.; Sinha, U.; Dai, B.; Johnson, D. B.; Taira, R. K.

    1999-01-01

    A multi-tiered telemedicine system based on Java and object-oriented database technology has yielded a number of practical insights and experiences on their effectiveness and suitability as implementation bases for a health care infrastructure. The advantages and drawbacks to their use, as seen within the context of the telemedicine system's development, are discussed. Overall, these technologies deliver on their early promise, with a few remaining issues that are due primarily to their relative newness. PMID:10566412

  8. Nominal ISOMERs (Incorrect Spellings Of Medicines Eluding Researchers)—variants in the spellings of drug names in PubMed: a database review

    PubMed Central

    Aronson, Jeffrey K

    2016-01-01

    Objective To examine how misspellings of drug names could impede searches for published literature. Design Database review. Data source PubMed. Review methods The study included 30 drug names that are commonly misspelt on prescription charts in hospitals in Birmingham, UK (test set), and 30 control names randomly chosen from a hospital formulary (control set). The following definitions were used: standard names—the international non-proprietary names, variant names—deviations in spelling from standard names that are not themselves standard names in English language nomenclature, and hidden reference variants—variant spellings that identified publications in textword (tw) searches of PubMed or other databases, and which were not identified by textword searches for the standard names. Variant names were generated from standard names by applying letter substitutions, omissions, additions, transpositions, duplications, deduplications, and combinations of these. Searches were carried out in PubMed (30 June 2016) for “standard name[tw]” and “variant name[tw] NOT standard name[tw].” Results The 30 standard names of drugs in the test set gave 325 979 hits in total, and 160 hidden reference variants gave 3872 hits (1.17%). The standard names of the control set gave 470 064 hits, and 79 hidden reference variants gave 766 hits (0.16%). Letter substitutions (particularly i to y and vice versa) and omissions together accounted for 2924 (74%) of the variants. Amitriptyline (8530 hits) yielded 18 hidden reference variants (179 (2.1%) hits). Names ending in “in,” “ine,” or “micin” were commonly misspelt. Failing to search for hidden reference variants of “gentamicin,” “amitriptyline,” “mirtazapine,” and “trazodone” would miss at least 19 systematic reviews. A hidden reference variant related to Christmas, “No-el”, was rare; variants of “X-miss” were rarer. Conclusion When performing searches, researchers should include

  9. Design and Application of an Object Oriented Graphical Database Management System for Synthetic Environments

    DTIC Science & Technology

    1991-12-01

    development of the Database Generation System was also successful. In addition to providing an excellent platform for testing GDMS funtionality , it proved to...Format Several geometries are available for modeling objects in three- space. Procedural models, fractals, grammar -based models, particle systems

  10. Object-Oriented Database for Managing Building Modeling Components and Metadata: Preprint

    SciTech Connect

    Long, N.; Fleming, K.; Brackney, L.

    2011-12-01

    Building simulation enables users to explore and evaluate multiple building designs. When tools for optimization, parametrics, and uncertainty analysis are combined with analysis engines, the sheer number of discrete simulation datasets makes it difficult to keep track of the inputs. The integrity of the input data is critical to designers, engineers, and researchers for code compliance, validation, and building commissioning long after the simulations are finished. This paper discusses an application that stores inputs needed for building energy modeling in a searchable, indexable, flexible, and scalable database to help address the problem of managing simulation input data.

  11. Nomenclature- and Database-Compatible Names for the Two Ebola Virus Variants that Emerged in Guinea and the Democratic Republic of the Congo in 2014

    PubMed Central

    Kuhn, Jens H.; Andersen, Kristian G.; Baize, Sylvain; Bào, Yīmíng; Bavari, Sina; Berthet, Nicolas; Blinkova, Olga; Brister, J. Rodney; Clawson, Anna N.; Fair, Joseph; Gabriel, Martin; Garry, Robert F.; Gire, Stephen K.; Goba, Augustine; Gonzalez, Jean-Paul; Günther, Stephan; Happi, Christian T.; Jahrling, Peter B.; Kapetshi, Jimmy; Kobinger, Gary; Kugelman, Jeffrey R.; Leroy, Eric M.; Maganga, Gael Darren; Mbala, Placide K.; Moses, Lina M.; Muyembe-Tamfum, Jean-Jacques; N’Faly, Magassouba; Nichol, Stuart T.; Omilabu, Sunday A.; Palacios, Gustavo; Park, Daniel J.; Paweska, Janusz T.; Radoshitzky, Sheli R.; Rossi, Cynthia A.; Sabeti, Pardis C.; Schieffelin, John S.; Schoepp, Randal J.; Sealfon, Rachel; Swanepoel, Robert; Towner, Jonathan S.; Wada, Jiro; Wauquier, Nadia; Yozwiak, Nathan L.; Formenty, Pierre

    2014-01-01

    In 2014, Ebola virus (EBOV) was identified as the etiological agent of a large and still expanding outbreak of Ebola virus disease (EVD) in West Africa and a much more confined EVD outbreak in Middle Africa. Epidemiological and evolutionary analyses confirmed that all cases of both outbreaks are connected to a single introduction each of EBOV into human populations and that both outbreaks are not directly connected. Coding-complete genomic sequence analyses of isolates revealed that the two outbreaks were caused by two novel EBOV variants, and initial clinical observations suggest that neither of them should be considered strains. Here we present consensus decisions on naming for both variants (West Africa: “Makona”, Middle Africa: “Lomela”) and provide database-compatible full, shortened, and abbreviated names that are in line with recently established filovirus sub-species nomenclatures. PMID:25421896

  12. Nomenclature- and database-compatible names for the two Ebola virus variants that emerged in Guinea and the Democratic Republic of the Congo in 2014.

    PubMed

    Kuhn, Jens H; Andersen, Kristian G; Baize, Sylvain; Bào, Yīmíng; Bavari, Sina; Berthet, Nicolas; Blinkova, Olga; Brister, J Rodney; Clawson, Anna N; Fair, Joseph; Gabriel, Martin; Garry, Robert F; Gire, Stephen K; Goba, Augustine; Gonzalez, Jean-Paul; Günther, Stephan; Happi, Christian T; Jahrling, Peter B; Kapetshi, Jimmy; Kobinger, Gary; Kugelman, Jeffrey R; Leroy, Eric M; Maganga, Gael Darren; Mbala, Placide K; Moses, Lina M; Muyembe-Tamfum, Jean-Jacques; N'Faly, Magassouba; Nichol, Stuart T; Omilabu, Sunday A; Palacios, Gustavo; Park, Daniel J; Paweska, Janusz T; Radoshitzky, Sheli R; Rossi, Cynthia A; Sabeti, Pardis C; Schieffelin, John S; Schoepp, Randal J; Sealfon, Rachel; Swanepoel, Robert; Towner, Jonathan S; Wada, Jiro; Wauquier, Nadia; Yozwiak, Nathan L; Formenty, Pierre

    2014-11-24

    In 2014, Ebola virus (EBOV) was identified as the etiological agent of a large and still expanding outbreak of Ebola virus disease (EVD) in West Africa and a much more confined EVD outbreak in Middle Africa. Epidemiological and evolutionary analyses confirmed that all cases of both outbreaks are connected to a single introduction each of EBOV into human populations and that both outbreaks are not directly connected. Coding-complete genomic sequence analyses of isolates revealed that the two outbreaks were caused by two novel EBOV variants, and initial clinical observations suggest that neither of them should be considered strains. Here we present consensus decisions on naming for both variants (West Africa: "Makona", Middle Africa: "Lomela") and provide database-compatible full, shortened, and abbreviated names that are in line with recently established filovirus sub-species nomenclatures.

  13. SISSY: An example of a multi-threaded, networked, object-oriented databased application

    SciTech Connect

    Scipioni, B.; Liu, D.; Song, T.

    1993-05-01

    The Systems Integration Support SYstem (SISSY) is presented and its capabilities and techniques are discussed. It is fully automated data collection and analysis system supporting the SSCL`s systems analysis activities as they relate to the Physics Detector and Simulation Facility (PDSF). SISSY itself is a paradigm of effective computing on the PDSF. It uses home-grown code (C++), network programming (RPC, SNMP), relational (SYBASE) and object-oriented (ObjectStore) DBMSs, UNIX operating system services (IRIX threads, cron, system utilities, shells scripts, etc.), and third party software applications (NetCentral Station, Wingz, DataLink) all of which act together as a single application to monitor and analyze the PDSF.

  14. Arabidopsis Gene Family Profiler (aGFP) – user-oriented transcriptomic database with easy-to-use graphic interface

    PubMed Central

    Dupl'áková, Nikoleta; Reňák, David; Hovanec, Patrik; Honysová, Barbora; Twell, David; Honys, David

    2007-01-01

    Background Microarray technologies now belong to the standard functional genomics toolbox and have undergone massive development leading to increased genome coverage, accuracy and reliability. The number of experiments exploiting microarray technology has markedly increased in recent years. In parallel with the rapid accumulation of transcriptomic data, on-line analysis tools are being introduced to simplify their use. Global statistical data analysis methods contribute to the development of overall concepts about gene expression patterns and to query and compose working hypotheses. More recently, these applications are being supplemented with more specialized products offering visualization and specific data mining tools. We present a curated gene family-oriented gene expression database, Arabidopsis Gene Family Profiler (aGFP; ), which gives the user access to a large collection of normalised Affymetrix ATH1 microarray datasets. The database currently contains NASC Array and AtGenExpress transcriptomic datasets for various tissues at different developmental stages of wild type plants gathered from nearly 350 gene chips. Results The Arabidopsis GFP database has been designed as an easy-to-use tool for users needing an easily accessible resource for expression data of single genes, pre-defined gene families or custom gene sets, with the further possibility of keyword search. Arabidopsis Gene Family Profiler presents a user-friendly web interface using both graphic and text output. Data are stored at the MySQL server and individual queries are created in PHP script. The most distinguishable features of Arabidopsis Gene Family Profiler database are: 1) the presentation of normalized datasets (Affymetrix MAS algorithm and calculation of model-based gene-expression values based on the Perfect Match-only model); 2) the choice between two different normalization algorithms (Affymetrix MAS4 or MAS5 algorithms); 3) an intuitive interface; 4) an interactive "virtual plant

  15. Patient-oriented cancer information on the internet: a comparison of wikipedia and a professionally maintained database.

    PubMed

    Rajagopalan, Malolan S; Khanna, Vineet K; Leiter, Yaacov; Stott, Meghan; Showalter, Timothy N; Dicker, Adam P; Lawrence, Yaacov R

    2011-09-01

    A wiki is a collaborative Web site, such as Wikipedia, that can be freely edited. Because of a wiki's lack of formal editorial control, we hypothesized that the content would be less complete and accurate than that of a professional peer-reviewed Web site. In this study, the coverage, accuracy, and readability of cancer information on Wikipedia were compared with those of the patient-orientated National Cancer Institute's Physician Data Query (PDQ) comprehensive cancer database. For each of 10 cancer types, medically trained personnel scored PDQ and Wikipedia articles for accuracy and presentation of controversies by using an appraisal form. Reliability was assessed by using interobserver variability and test-retest reproducibility. Readability was calculated from word and sentence length. Evaluators were able to rapidly assess articles (18 minutes/article), with a test-retest reliability of 0.71 and interobserver variability of 0.53. For both Web sites, inaccuracies were rare, less than 2% of information examined. PDQ was significantly more readable than Wikipedia: Flesch-Kincaid grade level 9.6 versus 14.1. There was no difference in depth of coverage between PDQ and Wikipedia (29.9, 34.2, respectively; maximum possible score 72). Controversial aspects of cancer care were relatively poorly discussed in both resources (2.9 and 6.1 for PDQ and Wikipedia, respectively, NS; maximum possible score 18). A planned subanalysis comparing common and uncommon cancers demonstrated no difference. Although the wiki resource had similar accuracy and depth as the professionally edited database, it was significantly less readable. Further research is required to assess how this influences patients' understanding and retention.

  16. Patient-Oriented Cancer Information on the Internet: A Comparison of Wikipedia and a Professionally Maintained Database

    PubMed Central

    Rajagopalan, Malolan S.; Khanna, Vineet K.; Leiter, Yaacov; Stott, Meghan; Showalter, Timothy N.; Dicker, Adam P.; Lawrence, Yaacov R.

    2011-01-01

    Purpose: A wiki is a collaborative Web site, such as Wikipedia, that can be freely edited. Because of a wiki's lack of formal editorial control, we hypothesized that the content would be less complete and accurate than that of a professional peer-reviewed Web site. In this study, the coverage, accuracy, and readability of cancer information on Wikipedia were compared with those of the patient-orientated National Cancer Institute's Physician Data Query (PDQ) comprehensive cancer database. Methods: For each of 10 cancer types, medically trained personnel scored PDQ and Wikipedia articles for accuracy and presentation of controversies by using an appraisal form. Reliability was assessed by using interobserver variability and test-retest reproducibility. Readability was calculated from word and sentence length. Results: Evaluators were able to rapidly assess articles (18 minutes/article), with a test-retest reliability of 0.71 and interobserver variability of 0.53. For both Web sites, inaccuracies were rare, less than 2% of information examined. PDQ was significantly more readable than Wikipedia: Flesch-Kincaid grade level 9.6 versus 14.1. There was no difference in depth of coverage between PDQ and Wikipedia (29.9, 34.2, respectively; maximum possible score 72). Controversial aspects of cancer care were relatively poorly discussed in both resources (2.9 and 6.1 for PDQ and Wikipedia, respectively, NS; maximum possible score 18). A planned subanalysis comparing common and uncommon cancers demonstrated no difference. Conclusion: Although the wiki resource had similar accuracy and depth as the professionally edited database, it was significantly less readable. Further research is required to assess how this influences patients' understanding and retention. PMID:22211130

  17. Learning to Be (In)variant: Combining Prior Knowledge and Experience to Infer Orientation Invariance in Object Recognition.

    PubMed

    Austerweil, Joseph L; Griffiths, Thomas L; Palmer, Stephen E

    2016-12-21

    How does the visual system recognize images of a novel object after a single observation despite possible variations in the viewpoint of that object relative to the observer? One possibility is comparing the image with a prototype for invariance over a relevant transformation set (e.g., translations and dilations). However, invariance over rotations (i.e., orientation invariance) has proven difficult to analyze, because it applies to some objects but not others. We propose that the invariant transformations of an object are learned by incorporating prior expectations with real-world evidence. We test this proposal by developing an ideal learner model for learning invariance that predicts better learning of orientation dependence when prior expectations about orientation are weak. This prediction was supported in two behavioral experiments, where participants learned the orientation dependence of novel images using feedback from solving arithmetic problems.

  18. Near-infrared demonstration of computer-generated holograms implemented by using subwavelength gratings with space-variant orientation.

    PubMed

    Levy, Uriel; Kim, Hyo-Chang; Tsai, Chia-Ho; Fainman, Yeshaiahu

    2005-08-15

    We provide an experimental demonstration of novel form-birefringent computer-generated holograms at wavelengths of 1.55 and 10.6 microm. These novel devices utilize a 2-D array of cells that can be fabricated with a single lithographic step. Each cell contains a subwavelength binary grating whose orientation controls the desired continuous phase profile within the cell.

  19. A new class of purple membrane variants for the construction of highly oriented membrane assemblies on the basis of noncovalent interactions.

    PubMed

    Baumann, Roelf-Peter; Busch, Annegret P; Heidel, Björn; Hampp, Norbert

    2012-04-12

    Purple membranes (PM) from Halobacterium salinarum have been discussed for several technical applications. These ideas started just several years after its discovery. The biological function of bacteriorhodopsin (BR), the only protein in PM, is the light-driven proton translocation across the membrane thereby converting light energy into chemical energy. The astonishing physicochemical robustness of this molecular assembly and the ease of its isolation triggered ideas for technical uses. All basic molecular functions of BR, that is, photochromism, photoelectrism, and proton pumping, are key elements for technical applications like optical data processing and data storage, ultrafast light detection and processing, and direct utilization of sunlight in adenosine 5'-triphospate (ATP) generation or seawater desalination. In spite of the efforts of several research groups worldwide, which confirmed the proof-of-principle for all these potential applications, only the photochromism-based applications have reached a technical level. The physical reason for this is that no fixation or orientation of the PMs is required. The situation is quite different for photoelectrism and proton pumping where the macroscopic orientation of PMs is a prerequisite. For proton pumping, in addition, the formation of artificial membranes which prevent passive proton leakage is necessary. In this manuscript, we describe a new class of PM variants with oppositely charged membrane sides which enable an almost 100% orientation on a surface, which is the key element for photoelectric applications of BR. As an example, the mutated BR, BR-E234R7, was prepared and analyzed. A nearly 100% self-orientation on mica was obtained.

  20. Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

    PubMed Central

    Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T.; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio

    2015-01-01

    Clinical classification of sequence variants identified in hereditary disease genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch Syndrome genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist variant classification, and recognized by microattribution. The scheme was refined by multidisciplinary expert committee review of clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants not obviously protein-truncating from nomenclature. This large-scale endeavor will facilitate consistent management of suspected Lynch Syndrome families, and demonstrates the value of multidisciplinary collaboration for curation and classification of variants in public locus-specific databases. PMID:24362816

  1. Identification, mRNA expression, and functional analysis of chitin synthase 1 gene and its two alternative splicing variants in oriental fruit fly, Bactrocera dorsalis.

    PubMed

    Yang, Wen-Jia; Xu, Kang-Kang; Cong, Lin; Wang, Jin-Jun

    2013-01-01

    Two alternative splicing variants of chitin synthase 1 gene (BdCHS1) were cloned and characterized from the oriental fruit fly, Bactrocera dorsalis (Hendel). The cDNA of both variants (BdCHS1a and BdCHS1b) consisted of 5,552 nucleotides (nt), with an open reading frame (ORF) of 4,776 nt, encoding a protein of 1,592 amino acid residues, plus 685- and 88-nt of 5'- and 3'-noncoding regions, respectively. The alternative splicing site was located between positions 3,784-3,960 and formed a pair of mutually exclusive exons (a/b) that were same in size (177 nt), but showed only 65% identity at the nucleotide level. During B. dorsalis growth and development, BdCHS1 and BdCHS1a were both mainly expressed during the larval-pupal and pupal-adult transitions, while BdCHS1b was mainly expressed during pupal-adult metamorphosis and in the middle of the pupal stage. BdCHS1a was predominately expressed in the integument whereas BdCHS1b was mainly expressed in the trachea. The 20-hydroxyecdysone (20E) induced the expression of BdCHS1 and its variants. Injection of dsRNA of BdCHS1, BdCHS1a, and BdCHS1b into third-instar larvae significantly reduced the expression levels of the corresponding variants, generated phenotypic defects, and killed most of the treated larvae. Furthermore, silencing of BdCHS1 and BdCHS1a had a similar result in that the larva was trapped in old cuticle and died without tanning completely, while silencing of BdCHS1b has no effect on insect morphology. These results demonstrated that BdCHS1 plays an important role in the larval-pupal transition and the expression of BdCHS1 in B. dorsalis is regulated by 20E.

  2. Towards secondary use of heterogeneous radio-oncological data for retrospective clinical trials: service-oriented connection of a central research database with image analysis tools

    NASA Astrophysics Data System (ADS)

    Bougatf, Nina; Bendl, Rolf; Debus, Jürgen

    2015-03-01

    Our overall objective is the utilization of heterogeneous and distributed radio-oncological data in retrospective clinical trials. Previously, we have successfully introduced a central research database for collection of heterogeneous data from distributed systems. The next step is the integration of image analysis tools in the standard retrieval process. Hence, analyses for complex medical questions can be processed automatically and facilitated immensely. In radiation oncology recurrence analysis is a central approach for the evaluation of therapeutic concepts. However, various analysis steps have to be performed like image registration, dose transformation and dose statistics. In this paper we show the integration of image analysis tools in the standard retrieval process by connecting them with our central research database using a service-oriented approach. A concrete problem from recurrence analysis has been selected to prove our concept exemplarily. We implemented service-oriented data collection and analysis tools to use them in a central analysis platform, which is based on a work flow management system. An analysis work flow has been designed that, at first, identifies patients in the research database fulfilling the inclusion criteria. Then the relevant imaging data is collected. Finally the imaging data is analyzed automatically. After the successful work flow execution, the results are available for further evaluation by a physician. As a result, the central research database has been connected successfully with automatic data collection and image analysis tools and the feasibility of our service-oriented approach has been demonstrated. In conclusion, our approach will simplify retrospective clinical trials in our department in future.

  3. Clinician-Oriented Access to Data - C.O.A.D.: A Natural Language Interface to a VA DHCP Database

    PubMed Central

    Levy, Christine; Rogers, Elizabeth

    1995-01-01

    Hospitals collect enormous amounts of data related to the on-going care of patients. Unfortunately, a clinicians access to the data is limited by complexities of the database structure and/or programming skills required to access the database. The COAD project attempts to bridge the gap between the clinical user's need for specific information from the database, and the wealth of data residing in the hospital information system. The project design includes a natural language interface to data contained in a VA DHCP database. We have developed a prototype which links natural language software to certain DHCP data elements, including, patient demographics, prescriptions, diagnoses, laboratory data, and provider information. English queries can by typed onto the system, and answers to the questions are returned. Future work includes refinement of natural language/DHCP connections to enable more sophisticated queries, and optimization of the system to reduce response time to user questions.

  4. Design and Implementation of an Object-Oriented Interface for the Multi- Model/Multi-Lingual Database System

    DTIC Science & Technology

    1993-03-01

    Attribute Based Data Language ( ABDL ) .................................. 16 B. THE OBJECT-ORIENTED DATA MODEL...to using a directory keyword is a much smaller search space and hence a quicker response-time. 2. The Attribute Based Data Language ( ABDL ) The...portion is described next. It consists of multiple user data languages (UDL’s), and a kernel data language (KDL). The attribute-based data language ( ABDL

  5. Energies and 2'-Hydroxyl Group Orientations of RNA Backbone Conformations. Benchmark CCSD(T)/CBS Database, Electronic Analysis, and Assessment of DFT Methods and MD Simulations.

    PubMed

    Mládek, Arnošt; Banáš, Pavel; Jurečka, Petr; Otyepka, Michal; Zgarbová, Marie; Šponer, Jiří

    2014-01-14

    Sugar-phosphate backbone is an electronically complex molecular segment imparting RNA molecules high flexibility and architectonic heterogeneity necessary for their biological functions. The structural variability of RNA molecules is amplified by the presence of the 2'-hydroxyl group, capable of forming multitude of intra- and intermolecular interactions. Bioinformatics studies based on X-ray structure database revealed that RNA backbone samples at least 46 substates known as rotameric families. The present study provides a comprehensive analysis of RNA backbone conformational preferences and 2'-hydroxyl group orientations. First, we create a benchmark database of estimated CCSD(T)/CBS relative energies of all rotameric families and test performance of dispersion-corrected DFT-D3 methods and molecular mechanics in vacuum and in continuum solvent. The performance of the DFT-D3 methods is in general quite satisfactory. The B-LYP-D3 method provides the best trade-off between accuracy and computational demands. B3-LYP-D3 slightly outperforms the new PW6B95-D3 and MPW1B95-D3 and is the second most accurate density functional of the study. The best agreement with CCSD(T)/CBS is provided by DSD-B-LYP-D3 double-hybrid functional, although its large-scale applications may be limited by high computational costs. Molecular mechanics does not reproduce the fine energy differences between the RNA backbone substates. We also demonstrate that the differences in the magnitude of the hyperconjugation effect do not correlate with the energy ranking of the backbone conformations. Further, we investigated the 2'-hydroxyl group orientation preferences. For all families, we conducted a QM and MM hydroxyl group rigid scan in gas phase and solvent. We then carried out set of explicit solvent MD simulations of folded RNAs and analyze 2'-hydroxyl group orientations of different backbone families in MD. The solvent energy profiles determined primarily by the sugar pucker match well with the

  6. Using diffusion anisotropy to characterize neuronal morphology in gray matter: the orientation distribution of axons and dendrites in the NeuroMorpho.org database

    PubMed Central

    Hansen, Mikkel B.; Jespersen, Sune N.; Leigland, Lindsey A.; Kroenke, Christopher D.

    2013-01-01

    Accurate mathematical modeling is integral to the ability to interpret diffusion magnetic resonance (MR) imaging data in terms of cellular structure in brain gray matter (GM). In previous work, we derived expressions to facilitate the determination of the orientation distribution of axonal and dendritic processes from diffusion MR data. Here we utilize neuron reconstructions available in the NeuroMorpho database (www.neuromorpho.org) to assess the validity of the model we proposed by comparing morphological properties of the neurons to predictions based on diffusion MR simulations using the reconstructed neuron models. Initially, the method for directly determining neurite orientation distributions is shown to not depend on the line length used to quantify cylindrical elements. Further variability in neuron morphology is characterized relative to neuron type, species, and laboratory of origin. Subsequently, diffusion MR signals are simulated based on human neocortical neuron reconstructions. This reveals a bias in which diffusion MR data predict neuron orientation distributions to have artificially low anisotropy. This bias is shown to arise from shortcomings (already at relatively low diffusion weighting) in the Gaussian approximation of diffusion, in the presence of restrictive barriers, and data analysis methods involving higher moments of the cumulant expansion are shown to be capable of reducing the magnitude of the observed bias. PMID:23675327

  7. Silencing of two alternative splicing-derived mRNA variants of chitin synthase 1 gene by RNAi is lethal to the oriental migratory locust, Locusta migratoria manilensis (Meyen).

    PubMed

    Zhang, Jianzhen; Liu, Xiaojian; Zhang, Jianqin; Li, Daqi; Sun, Yi; Guo, Yaping; Ma, Enbo; Zhu, Kun Yan

    2010-11-01

    Chitin synthases are crucial enzymes responsible for chitin biosynthesis in fungi, nematodes and arthropods. We characterized two alternative splicing-derived variants of chitin synthase 1 gene (LmCHS1) from the oriental migratory locust, Locusta migratoria manilensis (Meyen). Each cDNA of the two variants (LmCHS1A and LmCHS1B) consists of 5116 nucleotides that include a 4728-nucleotide open reading frame (ORF) encoding 1576 amino acid residues, and 67- and 321-bp non-coding regions at the 5'- and 3'-ends of the cDNA, respectively. The two variants differ only in one exon consisting of 177 nucleotides that encode 59 amino acid residues. The amino acid sequences within this alternative splicing region are 75% identical between the two variants. Both variants were expressed in all the developmental stages. However, LmCHS1A was predominately expressed in the integument whereas LmCHS1B was mainly expressed in the trachea. Our RNAi-based gene silencing study resulted in a dramatic reduction in the levels of the corresponding mRNA in the locust nymphs injected with dsRNA of LmCHS1, or either of its two variants, LmCHS1A and LmCHS1B. Consequentially, 95, 88 and 51% of mortalities were observed in the locusts injected with the LmCHS1, LmCHS1A and LmCHS1B dsRNA, respectively. The phenotypes resulted from the injection of LmCHS1A dsRNA were similar to those from the injection of LmCHS1 dsRNA, whereas the locusts injected with LmCHS1B dsRNA exhibited crimpled cuticle phenotype. Our results suggest that both variants of chitin synthase 1 are essential for insect growth and development.

  8. From field to database : a user-oriented approche to promote cyber-curating of scientific drilling cores

    NASA Astrophysics Data System (ADS)

    Pignol, C.; Arnaud, F.; Godinho, E.; Galabertier, B.; Caillo, A.; Billy, I.; Augustin, L.; Calzas, M.; Rousseau, D. D.; Crosta, X.

    2016-12-01

    Managing scientific data is probably one the most challenging issues in modern science. In plaeosciences the question is made even more sensitive with the need of preserving and managing high value fragile geological samples: cores. Large international scientific programs, such as IODP or ICDP led intense effort to solve this problem and proposed detailed high standard work- and dataflows thorough core handling and curating. However many paleoscience results derived from small-scale research programs in which data and sample management is too often managed only locally - when it is… In this paper we present a national effort leads in France to develop an integrated system to curate ice and sediment cores. Under the umbrella of the national excellence equipment program CLIMCOR, we launched a reflexion about core curating and the management of associated fieldwork data. Our aim was then to conserve all data from fieldwork in an integrated cyber-environment which will evolve toward laboratory-acquired data storage in a near future. To do so, our demarche was conducted through an intimate relationship with field operators as well laboratory core curators in order to propose user-oriented solutions. The national core curating initiative proposes a single web portal in which all teams can store their fieldwork data. This portal is used as a national hub to attribute IGSNs. For legacy samples, this requires the establishment of a dedicated core list with associated metadata. However, for forthcoming core data, we developed a mobile application to capture technical and scientific data directly on the field. This application is linked with a unique coring-tools library and is adapted to most coring devices (gravity, drilling, percussion etc.) including multiple sections and holes coring operations. Those field data can be uploaded automatically to the national portal, but also referenced through international standards (IGSN and INSPIRE) and displayed in international

  9. Benchmarking distributed data warehouse solutions for storing genomic variant information

    PubMed Central

    Wiewiórka, Marek S.; Wysakowicz, Dawid P.; Okoniewski, Michał J.

    2017-01-01

    Abstract Genomic-based personalized medicine encompasses storing, analysing and interpreting genomic variants as its central issues. At a time when thousands of patientss sequenced exomes and genomes are becoming available, there is a growing need for efficient database storage and querying. The answer could be the application of modern distributed storage systems and query engines. However, the application of large genomic variant databases to this problem has not been sufficiently far explored so far in the literature. To investigate the effectiveness of modern columnar storage [column-oriented Database Management System (DBMS)] and query engines, we have developed a prototypic genomic variant data warehouse, populated with large generated content of genomic variants and phenotypic data. Next, we have benchmarked performance of a number of combinations of distributed storages and query engines on a set of SQL queries that address biological questions essential for both research and medical applications. In addition, a non-distributed, analytical database (MonetDB) has been used as a baseline. Comparison of query execution times confirms that distributed data warehousing solutions outperform classic relational DBMSs. Moreover, pre-aggregation and further denormalization of data, which reduce the number of distributed join operations, significantly improve query performance by several orders of magnitude. Most of distributed back-ends offer a good performance for complex analytical queries, while the Optimized Row Columnar (ORC) format paired with Presto and Parquet with Spark 2 query engines provide, on average, the lowest execution times. Apache Kudu on the other hand, is the only solution that guarantees a sub-second performance for simple genome range queries returning a small subset of data, where low-latency response is expected, while still offering decent performance for running analytical queries. In summary, research and clinical applications that require

  10. amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.

    PubMed

    Riise Stensland, Hilde Monica Frostad; Frantzen, Gabrio; Kuokkanen, Elina; Buvang, Elisabeth Kjeldsen; Klenow, Helle Bagterp; Heikinheimo, Pirkko; Malm, Dag; Nilssen, Øivind

    2015-06-01

    α-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the MAN2B1 gene, encoding lysosomal α-mannosidase. The disorder is characterized by a range of clinical phenotypes of which the major manifestations are mental impairment, hearing impairment, skeletal changes, and immunodeficiency. Here, we report an α-mannosidosis mutation database, amamutdb.no, which has been constructed as a publicly accessible online resource for recording and analyzing MAN2B1 variants (http://amamutdb.no). Our aim has been to offer structured and relational information on MAN2B1 mutations and genotypes along with associated clinical phenotypes. Classifying missense mutations, as pathogenic or benign, is a challenge. Therefore, they have been given special attention as we have compiled all available data that relate to their biochemical, functional, and structural properties. The α-mannosidosis mutation database is comprehensive and relational in the sense that information can be retrieved and compiled across datasets; hence, it will facilitate diagnostics and increase our understanding of the clinical and molecular aspects of α-mannosidosis. We believe that the amamutdb.no structure and architecture will be applicable for the development of databases for any monogenic disorder. © 2015 WILEY PERIODICALS, INC.

  11. Mesh Oriented datABase

    SciTech Connect

    Tautges, Timothy J.

    2004-04-01

    MOAB is a component for representing and evaluating mesh data. MOAB can store stuctured and unstructured mesh, consisting of elements in the finite element "zoo". The functional interface to MOAB is simple yet powerful, allowing the representation of many types of metadata commonly found on the mesh. MOAB is optimized for efficiency in space and time, based on access to mesh in chunks rather than through individual entities, while also versatile enough to support individual entity access. The MOAB data model consists of a mesh interface instance, mesh entities (vertices and elements), sets, and tags. Entities are addressed through handles rather than pointers, to allow the underlying representation of an entity to change without changing the handle to that entity. Sets are arbitrary groupings of mesh entities and other sets. Sets also support parent/child relationships as a relation distinct from sets containing other sets. The directed-graph provided by set parent/child relationships is useful for modeling topological relations from a geometric model or other metadata. Tags are named data which can be assigned to the mesh as a whole, individual entities, or sets. Tags are a mechanism for attaching data to individual entities and sets are a mechanism for describing relations between entities; the combination of these two mechanisms isa powerful yet simple interface for representing metadata or application-specific data. For example, sets and tags can be used together to describe geometric topology, boundary condition, and inter-processor interface groupings in a mesh. MOAB is used in several ways in various applications. MOAB serves as the underlying mesh data representation in the VERDE mesh verification code. MOAB can also be used as a mesh input mechanism, using mesh readers induded with MOAB, or as a t’anslator between mesh formats, using readers and writers included with MOAB.

  12. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

    PubMed

    Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Jenkins, Mark; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R; Capella, Gabriel

    2017-09-01

    Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what is the cumulative incidence of a subsequent cancer; (ii) in which organs do subsequent cancers occur; and (iii) what is the survival following these cancers? Information was collated on prospectively organised surveillance and prospectively observed outcomes in patients with LS who had cancer prior to inclusion and analysed by age, gender and genetic variants. 1273 patients with LS from 10 countries were followed up for 7753 observation years. 318 patients (25.7%) developed 341 first subsequent cancers, including colorectal (n=147, 43%), upper GI, pancreas or bile duct (n=37, 11%) and urinary tract (n=32, 10%). The cumulative incidences for any subsequent cancer from age 40 to age 70 years were 73% for pathogenic MLH1 (path_MLH1), 76% for path_MSH2 carriers and 52% for path_MSH6 carriers, and for colorectal cancer (CRC) the cumulative incidences were 46%, 48% and 23%, respectively. Crude survival after any subsequent cancer was 82% (95% CI 76% to 87%) and 10-year crude survival after CRC was 91% (95% CI 83% to 95%). Relative incidence of subsequent cancer compared with incidence of first cancer was slightly but insignificantly higher than cancer incidence in patients with LS without previous cancer (range 0.94-1.49). The favourable survival after subsequent cancers validated continued follow-up to prevent death from cancer. The interactive website http://lscarisk.org was expanded to calculate the risks by gender, genetic variant and age for subsequent cancer for any patient with LS with previous cancer. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  13. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

    PubMed Central

    Oliveira, Jorge; Oliveira, Márcia E; Kress, Wolfram; Taipa, Ricardo; Pires, Manuel Melo; Hilbert, Pascale; Baxter, Peter; Santos, Manuela; Buermans, Henk; den Dunnen, Johan T; Santos, Rosário

    2013-01-01

    Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin – a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulator of intermediate filaments. We report the development of a locus-specific database for MTM1 using the Leiden Open Variation database software (http://www.lovd.nl/MTM1), with data collated for 474 mutations identified in 472 patients (by June 2012). Among the entries are a total of 25 new mutations, including a large deletion encompassing introns 2–15. During database implementation it was noticed that no large duplications had been reported. We tested a group of eight uncharacterized CNM patients for this specific type of mutation, by multiple ligation-dependent probe amplification (MLPA) analysis. A large duplication spanning exons 1–5 was identified in a boy with a mild phenotype, with results pointing toward possible somatic mosaicism. Further characterization revealed that this duplication causes an in-frame deletion at the mRNA level (r.343_444del). Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. A complex rearrangement involving the duplication of exon 10 has since been reported, with detection also enabled by MLPA analysis. It is thus conceivable that large duplications in MTM1 may account for a number of CNM cases that have remained genetically unresolved. PMID:22968136

  14. Cellulase variants

    DOEpatents

    Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

    2015-07-14

    This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

  15. Ontology-oriented retrieval of putative microRNAs in Vitis vinifera via GrapeMiRNA: a web database of de novo predicted grape microRNAs

    PubMed Central

    Lazzari, Barbara; Caprera, Andrea; Cestaro, Alessandro; Merelli, Ivan; Del Corvo, Marcello; Fontana, Paolo; Milanesi, Luciano; Velasco, Riccardo; Stella, Alessandra

    2009-01-01

    Background Two complete genome sequences are available for Vitis vinifera Pinot noir. Based on the sequence and gene predictions produced by the IASMA, we performed an in silico detection of putative microRNA genes and of their targets, and collected the most reliable microRNA predictions in a web database. The application is available at . Description The program FindMiRNA was used to detect putative microRNA genes in the grape genome. A very high number of predictions was retrieved, calling for validation. Nine parameters were calculated and, based on the grape microRNAs dataset available at miRBase, thresholds were defined and applied to FindMiRNA predictions having targets in gene exons. In the resulting subset, predictions were ranked according to precursor positions and sequence similarity, and to target identity. To further validate FindMiRNA predictions, comparisons to the Arabidopsis genome, to the grape Genoscope genome, and to the grape EST collection were performed. Results were stored in a MySQL database and a web interface was prepared to query the database and retrieve predictions of interest. Conclusion The GrapeMiRNA database encompasses 5,778 microRNA predictions spanning the whole grape genome. Predictions are integrated with information that can be of use in selection procedures. Tools added in the web interface also allow to inspect predictions according to gene ontology classes and metabolic pathways of targets. The GrapeMiRNA database can be of help in selecting candidate microRNA genes to be validated. PMID:19563653

  16. Generalized Database Management System Support for Numeric Database Environments.

    ERIC Educational Resources Information Center

    Dominick, Wayne D.; Weathers, Peggy G.

    1982-01-01

    This overview of potential for utilizing database management systems (DBMS) within numeric database environments highlights: (1) major features, functions, and characteristics of DBMS; (2) applicability to numeric database environment needs and user needs; (3) current applications of DBMS technology; and (4) research-oriented and…

  17. Who's Gonna Pay the Piper for Free Online Databases?

    ERIC Educational Resources Information Center

    Jacso, Peter

    1996-01-01

    Discusses new pricing models for some online services and considers the possibilities for the traditional online database market. Topics include multimedia music databases, including copyright implications; other retail-oriented databases; and paying for free databases with advertising. (LRW)

  18. JAK/STAT signalling--an executable model assembled from molecule-centred modules demonstrating a module-oriented database concept for systems and synthetic biology.

    PubMed

    Blätke, Mary Ann; Dittrich, Anna; Rohr, Christian; Heiner, Monika; Schaper, Fred; Marwan, Wolfgang

    2013-06-01

    Mathematical models of molecular networks regulating biological processes in cells or organisms are most frequently designed as sets of ordinary differential equations. Various modularisation methods have been applied to reduce the complexity of models, to analyse their structural properties, to separate biological processes, or to reuse model parts. Taking the JAK/STAT signalling pathway with the extensive combinatorial cross-talk of its components as a case study, we make a natural approach to modularisation by creating one module for each biomolecule. Each module consists of a Petri net and associated metadata and is organised in a database publically accessible through a web interface (). The Petri net describes the reaction mechanism of a given biomolecule and its functional interactions with other components including relevant conformational states. The database is designed to support the curation, documentation, version control, and update of individual modules, and to assist the user in automatically composing complex models from modules. Biomolecule centred modules, associated metadata, and database support together allow the automatic creation of models by considering differential gene expression in given cell types or under certain physiological conditions or states of disease. Modularity also facilitates exploring the consequences of alternative molecular mechanisms by comparative simulation of automatically created models even for users without mathematical skills. Models may be selectively executed as an ODE system, stochastic, or qualitative models or hybrid and exported in the SBML format. The fully automated generation of models of redesigned networks by metadata-guided modification of modules representing biomolecules with mutated function or specificity is proposed.

  19. Database computing in HEP

    SciTech Connect

    Day, C.T.; Loken, S.; MacFarlane, J.F. ); May, E.; Lifka, D.; Lusk, E.; Price, L.E. ); Baden, A. . Dept. of Physics); Grossman, R.; Qin, X. . Dept. of Mathematics, Statistics and Computer Science); Cormell, L.; Leibold, P.; Liu, D

    1992-01-01

    The major SSC experiments are expected to produce up to 1 Petabyte of data per year each. Once the primary reconstruction is completed by farms of inexpensive processors. I/O becomes a major factor in further analysis of the data. We believe that the application of database techniques can significantly reduce the I/O performed in these analyses. We present examples of such I/O reductions in prototype based on relational and object-oriented databases of CDF data samples.

  20. Database computing in HEP

    NASA Technical Reports Server (NTRS)

    Day, C. T.; Loken, S.; Macfarlane, J. F.; May, E.; Lifka, D.; Lusk, E.; Price, L. E.; Baden, A.; Grossman, R.; Qin, X.

    1992-01-01

    The major SSC experiments are expected to produce up to 1 Petabyte of data per year each. Once the primary reconstruction is completed by farms of inexpensive processors, I/O becomes a major factor in further analysis of the data. We believe that the application of database techniques can significantly reduce the I/O performed in these analyses. We present examples of such I/O reductions in prototypes based on relational and object-oriented databases of CDF data samples.

  1. Concurrency Control Algorithms and its Variants: A Survey

    NASA Astrophysics Data System (ADS)

    Batra, Neera; Kapil, A. K.

    2010-11-01

    This paper surveys many variants of concurrency control algorithms in database systems. We classify the different alternatives under locking, time-stamp, optimistic algorithms. Though the performance of different concurrency control algorithms have been explored extensively for database management systems but to the best of author's knowledge, the relative variants of different protocols used for concurrency control algorithms have not been reported yet.

  2. The Curation of Genetic Variants: Difficulties and Possible Solutions

    PubMed Central

    Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

    2012-01-01

    The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. PMID:23317699

  3. The curation of genetic variants: difficulties and possible solutions.

    PubMed

    Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

    2012-12-01

    The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

  4. Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

    PubMed

    Groth, Kristian A; Gaustadnes, Mette; Thorsen, Kasper; Østergaard, John R; Jensen, Uffe Birk; Gravholt, Claus H; Andersen, Niels H

    2016-01-01

    The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects based on database information. The aim of this study was to evaluate genetic variants in four databases and review the relevant literature. We assessed background data on 23 common variants registered in ESP6500 and classified as causing MFS in the Human Gene Mutation Database (HGMD). We evaluated data in four variant databases (HGMD, UMD-FBN1, ClinVar, and UniProt) according to the diagnostic criteria for MFS and compared the results with the classification of each variant in the four databases. None of the 23 variants was clearly associated with MFS, even though all classifications in the databases stated otherwise. A genetic diagnosis of MFS cannot reliably be based on current variant databases because they contain incorrectly interpreted conclusions on variants. Variants must be evaluated by time-consuming review of the background material in the databases and by combining these data with expert knowledge on MFS. This is a major problem because we expect even more genetic test results in the near future as a result of the reduced cost and process time for next-generation sequencing.Genet Med 18 1, 98-102.

  5. PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

    PubMed Central

    Nowacki, P M; Byck, S; Prevost, L; Scriver, C R

    1998-01-01

    PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb modules contain mutations, polymorphic haplotypes, genotype-phenotype correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical information and data on three ENU mouse orthologues of human HPA. Only six different mutations account for 60% of human HPA chromosomes worldwide, mutations stratify by population and geographic region, and the Oriental and Caucasian mutation sets are different (Fig. 3). PAHdb provides curated electronic publication and one third of its incoming reports are direct submissions. Each different mutation receives a systematic (nucleotide) name and a unique identifier (UID). Data are accessed both by a Newsletter and a search engine on the website; integrity of the database is ensured by keeping the curated template offline. There have been >6500 online interrogations of the website. PMID:9399840

  6. Ultrasonographic imaging of papillary thyroid carcinoma variants

    PubMed Central

    2017-01-01

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC. PMID:28222584

  7. Ultrasonographic imaging of papillary thyroid carcinoma variants.

    PubMed

    Shin, Jung Hee

    2017-04-01

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

  8. Biofuel Database

    National Institute of Standards and Technology Data Gateway

    Biofuel Database (Web, free access)   This database brings together structural, biological, and thermodynamic data for enzymes that are either in current use or are being considered for use in the production of biofuels.

  9. Database Administrator

    ERIC Educational Resources Information Center

    Moore, Pam

    2010-01-01

    The Internet and electronic commerce (e-commerce) generate lots of data. Data must be stored, organized, and managed. Database administrators, or DBAs, work with database software to find ways to do this. They identify user needs, set up computer databases, and test systems. They ensure that systems perform as they should and add people to the…

  10. FIREMON Database

    Treesearch

    John F. Caratti

    2006-01-01

    The FIREMON database software allows users to enter data, store, analyze, and summarize plot data, photos, and related documents. The FIREMON database software consists of a Java application and a Microsoft® Access database. The Java application provides the user interface with FIREMON data through data entry forms, data summary reports, and other data management tools...

  11. Database Administrator

    ERIC Educational Resources Information Center

    Moore, Pam

    2010-01-01

    The Internet and electronic commerce (e-commerce) generate lots of data. Data must be stored, organized, and managed. Database administrators, or DBAs, work with database software to find ways to do this. They identify user needs, set up computer databases, and test systems. They ensure that systems perform as they should and add people to the…

  12. MOAB : a mesh-oriented database.

    SciTech Connect

    Tautges, Timothy James; Ernst, Corey; Stimpson, Clint; Meyers, Ray J.; Merkley, Karl

    2004-04-01

    A finite element mesh is used to decompose a continuous domain into a discretized representation. The finite element method solves PDEs on this mesh by modeling complex functions as a set of simple basis functions with coefficients at mesh vertices and prescribed continuity between elements. The mesh is one of the fundamental types of data linking the various tools in the FEA process (mesh generation, analysis, visualization, etc.). Thus, the representation of mesh data and operations on those data play a very important role in FEA-based simulations. MOAB is a component for representing and evaluating mesh data. MOAB can store structured and unstructured mesh, consisting of elements in the finite element 'zoo'. The functional interface to MOAB is simple yet powerful, allowing the representation of many types of metadata commonly found on the mesh. MOAB is optimized for efficiency in space and time, based on access to mesh in chunks rather than through individual entities, while also versatile enough to support individual entity access. The MOAB data model consists of a mesh interface instance, mesh entities (vertices and elements), sets, and tags. Entities are addressed through handles rather than pointers, to allow the underlying representation of an entity to change without changing the handle to that entity. Sets are arbitrary groupings of mesh entities and other sets. Sets also support parent/child relationships as a relation distinct from sets containing other sets. The directed-graph provided by set parent/child relationships is useful for modeling topological relations from a geometric model or other metadata. Tags are named data which can be assigned to the mesh as a whole, individual entities, or sets. Tags are a mechanism for attaching data to individual entities and sets are a mechanism for describing relations between entities; the combination of these two mechanisms is a powerful yet simple interface for representing metadata or application-specific data. For example, sets and tags can be used together to describe geometric topology, boundary condition, and inter-processor interface groupings in a mesh. MOAB is used in several ways in various applications. MOAB serves as the underlying mesh data representation in the VERDE mesh verification code. MOAB can also be used as a mesh input mechanism, using mesh readers included with MOAB, or as a translator between mesh formats, using readers and writers included with MOAB. The remainder of this report is organized as follows. Section 2, 'Getting Started', provides a few simple examples of using MOAB to perform simple tasks on a mesh. Section 3 discusses the MOAB data model in more detail, including some aspects of the implementation. Section 4 summarizes the MOAB function API. Section 5 describes some of the tools included with MOAB, and the implementation of mesh readers/writers for MOAB. Section 6 contains a brief description of MOAB's relation to the TSTT mesh interface. Section 7 gives a conclusion and future plans for MOAB development. Section 8 gives references cited in this report. A reference description of the full MOAB API is contained in Section 9.

  13. Disease variants in genomes of 44 centenarians

    PubMed Central

    Freudenberg-Hua, Yun; Freudenberg, Jan; Vacic, Vladimir; Abhyankar, Avinash; Emde, Anne-Katrin; Ben-Avraham, Danny; Barzilai, Nir; Oschwald, Dayna; Christen, Erika; Koppel, Jeremy; Greenwald, Blaine; Darnell, Robert B; Germer, Soren; Atzmon, Gil; Davies, Peter

    2014-01-01

    To identify previously reported disease mutations that are compatible with extraordinary longevity, we screened the coding regions of the genomes of 44 Ashkenazi Jewish centenarians. Individual genome sequences were generated with 30× coverage on the Illumina HiSeq 2000 and single-nucleotide variants were called with the genome analysis toolkit (GATK). We identified 130 coding variants that were annotated as “pathogenic” or “likely pathogenic” based on the ClinVar database and that are infrequent in the general population. These variants were previously reported to cause a wide range of degenerative, neoplastic, and cardiac diseases with autosomal dominant, autosomal recessive, and X-linked inheritance. Several of these variants are located in genes that harbor actionable incidental findings, according to the recommendations of the American College of Medical Genetics. In addition, we found risk variants for late-onset neurodegenerative diseases, such as the APOE ε4 allele that was even present in a homozygous state in one centenarian who did not develop Alzheimer's disease. Our data demonstrate that the incidental finding of certain reported disease variants in an individual genome may not preclude an extraordinarily long life. When the observed variants are encountered in the context of clinical sequencing, it is thus important to exercise caution in justifying clinical decisions. In genome sequences of 44 Ashkenazi centenarians, we identified many coding variants that were annotated as “pathogenic” or “likely pathogenic” based on the ClinVar database. Our data demonstrate that the incidental finding of certain reported disease variants in an individual genome may not preclude an extraordinarily long life. When the observed variants are encountered in the context of clinical sequencing, it is thus important to exercise caution in justifying clinical decisions. PMID:25333069

  14. A Bioinformatics Workflow for Variant Peptide Detection in Shotgun Proteomics*

    PubMed Central

    Li, Jing; Su, Zengliu; Ma, Ze-Qiang; Slebos, Robbert J. C.; Halvey, Patrick; Tabb, David L.; Liebler, Daniel C.; Pao, William; Zhang, Bing

    2011-01-01

    Shotgun proteomics data analysis usually relies on database search. However, commonly used protein sequence databases do not contain information on protein variants and thus prevent variant peptides and proteins from been identified. Including known coding variations into protein sequence databases could help alleviate this problem. Based on our recently published human Cancer Proteome Variation Database, we have created a protein sequence database that comprehensively annotates thousands of cancer-related coding variants collected in the Cancer Proteome Variation Database as well as noncancer-specific ones from the Single Nucleotide Polymorphism Database (dbSNP). Using this database, we then developed a data analysis workflow for variant peptide identification in shotgun proteomics. The high risk of false positive variant identifications was addressed by a modified false discovery rate estimation method. Analysis of colorectal cancer cell lines SW480, RKO, and HCT-116 revealed a total of 81 peptides that contain either noncancer-specific or cancer-related variations. Twenty-three out of 26 variants randomly selected from the 81 were confirmed by genomic sequencing. We further applied the workflow on data sets from three individual colorectal tumor specimens. A total of 204 distinct variant peptides were detected, and five carried known cancer-related mutations. Each individual showed a specific pattern of cancer-related mutations, suggesting potential use of this type of information for personalized medicine. Compatibility of the workflow has been tested with four popular database search engines including Sequest, Mascot, X!Tandem, and MyriMatch. In summary, we have developed a workflow that effectively uses existing genomic data to enable variant peptide detection in proteomics. PMID:21389108

  15. Standards for Clinical Grade Genomic Databases.

    PubMed

    Yohe, Sophia L; Carter, Alexis B; Pfeifer, John D; Crawford, James M; Cushman-Vokoun, Allison; Caughron, Samuel; Leonard, Debra G B

    2015-11-01

    Next-generation sequencing performed in a clinical environment must meet clinical standards, which requires reproducibility of all aspects of the testing. Clinical-grade genomic databases (CGGDs) are required to classify a variant and to assist in the professional interpretation of clinical next-generation sequencing. Applying quality laboratory standards to the reference databases used for sequence-variant interpretation presents a new challenge for validation and curation. To define CGGD and the categories of information contained in CGGDs and to frame recommendations for the structure and use of these databases in clinical patient care. Members of the College of American Pathologists Personalized Health Care Committee reviewed the literature and existing state of genomic databases and developed a framework for guiding CGGD development in the future. Clinical-grade genomic databases may provide different types of information. This work group defined 3 layers of information in CGGDs: clinical genomic variant repositories, genomic medical data repositories, and genomic medicine evidence databases. The layers are differentiated by the types of genomic and medical information contained and the utility in assisting with clinical interpretation of genomic variants. Clinical-grade genomic databases must meet specific standards regarding submission, curation, and retrieval of data, as well as the maintenance of privacy and security. These organizing principles for CGGDs should serve as a foundation for future development of specific standards that support the use of such databases for patient care.

  16. Aptamer Database

    PubMed Central

    Lee, Jennifer F.; Hesselberth, Jay R.; Meyers, Lauren Ancel; Ellington, Andrew D.

    2004-01-01

    The aptamer database is designed to contain comprehensive sequence information on aptamers and unnatural ribozymes that have been generated by in vitro selection methods. Such data are not normally collected in ‘natural’ sequence databases, such as GenBank. Besides serving as a storehouse of sequences that may have diagnostic or therapeutic utility, the database serves as a valuable resource for theoretical biologists who describe and explore fitness landscapes. The database is updated monthly and is publicly available at http://aptamer.icmb.utexas.edu/. PMID:14681367

  17. Italian Rett database and biobank.

    PubMed

    Sampieri, Katia; Meloni, Ilaria; Scala, Elisa; Ariani, Francesca; Caselli, Rossella; Pescucci, Chiara; Longo, Ilaria; Artuso, Rosangela; Bruttini, Mirella; Mencarelli, Maria Antonietta; Speciale, Caterina; Causarano, Vincenza; Hayek, Giuseppe; Zappella, Michele; Renieri, Alessandra; Mari, Francesca

    2007-04-01

    Rett syndrome is the second most common cause of severe mental retardation in females, with an incidence of approximately 1 out of 10,000 live female births. In addition to the classic form, a number of Rett variants have been described. MECP2 gene mutations are responsible for about 90% of classic cases and for a lower percentage of variant cases. Recently, CDKL5 mutations have been identified in the early onset seizures variant and other atypical Rett patients. While the high percentage of MECP2 mutations in classic patients supports the hypothesis of a single disease gene, the low frequency of mutated variant cases suggests genetic heterogeneity. Since 1998, we have performed clinical evaluation and molecular analysis of a large number of Italian Rett patients. The Italian Rett Syndrome (RTT) database has been developed to share data and samples of our RTT collection with the scientific community (http://www.biobank.unisi.it). This is the first RTT database that has been connected with a biobank. It allows the user to immediately visualize the list of available RTT samples and, using the "Search by" tool, to rapidly select those with specific clinical and molecular features. By contacting bank curators, users can request the samples of interest for their studies. This database encourages collaboration projects with clinicians and researchers from around the world and provides important resources that will help to better define the pathogenic mechanisms underlying Rett syndrome.

  18. Maize databases

    USDA-ARS?s Scientific Manuscript database

    This chapter is a succinct overview of maize data held in the species-specific database MaizeGDB (the Maize Genomics and Genetics Database), and selected multi-species data repositories, such as Gramene/Ensembl Plants, Phytozome, UniProt and the National Center for Biotechnology Information (NCBI), ...

  19. Database Manager

    ERIC Educational Resources Information Center

    Martin, Andrew

    2010-01-01

    It is normal practice today for organizations to store large quantities of records of related information as computer-based files or databases. Purposeful information is retrieved by performing queries on the data sets. The purpose of DATABASE MANAGER is to communicate to students the method by which the computer performs these queries. This…

  20. Image Databases.

    ERIC Educational Resources Information Center

    Pettersson, Rune

    Different kinds of pictorial databases are described with respect to aims, user groups, search possibilities, storage, and distribution. Some specific examples are given for databases used for the following purposes: (1) labor markets for artists; (2) document management; (3) telling a story; (4) preservation (archives and museums); (5) research;…

  1. Database Manager

    ERIC Educational Resources Information Center

    Martin, Andrew

    2010-01-01

    It is normal practice today for organizations to store large quantities of records of related information as computer-based files or databases. Purposeful information is retrieved by performing queries on the data sets. The purpose of DATABASE MANAGER is to communicate to students the method by which the computer performs these queries. This…

  2. Genome databases

    SciTech Connect

    Courteau, J.

    1991-10-11

    Since the Genome Project began several years ago, a plethora of databases have been developed or are in the works. They range from the massive Genome Data Base at Johns Hopkins University, the central repository of all gene mapping information, to small databases focusing on single chromosomes or organisms. Some are publicly available, others are essentially private electronic lab notebooks. Still others limit access to a consortium of researchers working on, say, a single human chromosome. An increasing number incorporate sophisticated search and analytical software, while others operate as little more than data lists. In consultation with numerous experts in the field, a list has been compiled of some key genome-related databases. The list was not limited to map and sequence databases but also included the tools investigators use to interpret and elucidate genetic data, such as protein sequence and protein structure databases. Because a major goal of the Genome Project is to map and sequence the genomes of several experimental animals, including E. coli, yeast, fruit fly, nematode, and mouse, the available databases for those organisms are listed as well. The author also includes several databases that are still under development - including some ambitious efforts that go beyond data compilation to create what are being called electronic research communities, enabling many users, rather than just one or a few curators, to add or edit the data and tag it as raw or confirmed.

  3. Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

    PubMed

    Groth, Kristian A; Von Kodolitsch, Yskert; Kutsche, Kerstin; Gaustadnes, Mette; Thorsen, Kasper; Andersen, Niels H; Gravholt, Claus H

    2017-07-01

    Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score. We evaluated four databases (UMD-FBN1, ClinVar, the Human Gene Mutation Database (HGMD), and Uniprot) containing 2,250 FBN1 variants supported by 4,904 records presented in 307 references. The Marfan score calculated for phenotype data from the records quantified variant associations with Marfan syndrome phenotype. We calculated a Marfan score for 1,283 variants, of which we confirmed the database diagnosis of Marfan syndrome in 77.1%. This represented only 35.8% of the total registered variants; 18.5-33.3% (UMD-FBN1 versus HGMD) of variants associated with Marfan syndrome in the databases could not be confirmed by the recorded phenotype. FBN1 databases can be imprecise and incomplete. Data should be used with caution when evaluating FBN1 variants. At present, the UMD-FBN1 database seems to be the biggest and best curated; therefore, it is the most comprehensive database. However, the need for better genotype-phenotype curated databases is evident, and we hereby present such a database.Genet Med advance online publication 01 December 2016.

  4. denovo-db: a compendium of human de novo variants

    PubMed Central

    Turner, Tychele N.; Yi, Qian; Krumm, Niklas; Huddleston, John; Hoekzema, Kendra; F. Stessman, Holly A.; Doebley, Anna-Lisa; Bernier, Raphael A.; Nickerson, Deborah A.; Eichler, Evan E.

    2017-01-01

    Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery through next-generation sequencing focused on congenital heart disease and neurodevelopmental disorders (NDDs). Currently, de novo variants are one of the most significant risk factors for NDDs with a substantial overlap of genes involved in more than one NDD. To facilitate better usage of published data, provide standardization of annotation, and improve accessibility, we created denovo-db (http://denovo-db.gs.washington.edu), a database for human de novo variants. As of July 2016, denovo-db contained 40 different studies and 32,991 de novo variants from 23,098 trios. Database features include basic variant information (chromosome location, change, type); detailed annotation at the transcript and protein levels; severity scores; frequency; validation status; and, most importantly, the phenotype of the individual with the variant. We included a feature on our browsable website to download any query result, including a downloadable file of the full database with additional variant details. denovo-db provides necessary information for researchers to compare their data to other individuals with the same phenotype and also to controls allowing for a better understanding of the biology of de novo variants and their contribution to disease. PMID:27907889

  5. Prototyping a genetics deductive database

    SciTech Connect

    Hearne, C.; Cui, Zhan; Parsons, S.; Hajnal, S.

    1994-12-31

    We are developing a laboratory notebook system known as the Genetics Deductive Database. Currently our prototype provides storage for biological facts and rules with flexible access via an interactive graphical display. We have introduced a formal basis for the representation and reasoning necessary to order genome map data and handle the uncertainty inherent in biological data. We aim to support laboratory activities by introducing an experiment planner into our prototype. The Genetics Deductive Database is built using new database technology which provides an object-oriented conceptual model, a declarative rule language, and a procedural update language. This combination of features allows the implementation of consistency maintenance, automated reasoning, and data verification.

  6. Experiment Databases

    NASA Astrophysics Data System (ADS)

    Vanschoren, Joaquin; Blockeel, Hendrik

    Next to running machine learning algorithms based on inductive queries, much can be learned by immediately querying the combined results of many prior studies. Indeed, all around the globe, thousands of machine learning experiments are being executed on a daily basis, generating a constant stream of empirical information on machine learning techniques. While the information contained in these experiments might have many uses beyond their original intent, results are typically described very concisely in papers and discarded afterwards. If we properly store and organize these results in central databases, they can be immediately reused for further analysis, thus boosting future research. In this chapter, we propose the use of experiment databases: databases designed to collect all the necessary details of these experiments, and to intelligently organize them in online repositories to enable fast and thorough analysis of a myriad of collected results. They constitute an additional, queriable source of empirical meta-data based on principled descriptions of algorithm executions, without reimplementing the algorithms in an inductive database. As such, they engender a very dynamic, collaborative approach to experimentation, in which experiments can be freely shared, linked together, and immediately reused by researchers all over the world. They can be set up for personal use, to share results within a lab or to create open, community-wide repositories. Here, we provide a high-level overview of their design, and use an existing experiment database to answer various interesting research questions about machine learning algorithms and to verify a number of recent studies.

  7. A comprehensive global genotype-phenotype database for rare diseases.

    PubMed

    Trujillano, Daniel; Oprea, Gabriela-Elena; Schmitz, Yvonne; Bertoli-Avella, Aida M; Abou Jamra, Rami; Rolfs, Arndt

    2017-01-01

    The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases. This database (CentoMD (®)) is a browser-based tool that enables access to a comprehensive, independently curated system utilizing stringent high-quality criteria and a quickly growing repository of genetic and human phenotype ontology (HPO)-based clinical information. Its main goals are to aid the evaluation of genetic variants, to enhance the validity of the genetic analytical workflow, to increase the quality of genetic diagnoses, and to improve evaluation of treatment options for patients with hereditary diseases. The database software correlates clinical information from consented patients and probands of different geographical backgrounds with a large dataset of genetic variants and, when available, biomarker information. An automated follow-up tool is incorporated that informs all users whenever a variant classification has changed. These unique features fully embedded in a CLIA/CAP-accredited quality management system allow appropriate data quality and enhanced patient safety. More than 100,000 genetically screened individuals are documented in the database, resulting in more than 470 million variant detections. Approximately, 57% of the clinically relevant and uncertain variants in the database are novel. Notably, 3% of the genetic variants identified and previously reported in the literature as being associated with a particular rare disease were reclassified, based on internal evidence, as clinically irrelevant. The database offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool

  8. Medical Image Databases

    PubMed Central

    Tagare, Hemant D.; Jaffe, C. Carl; Duncan, James

    1997-01-01

    Abstract Information contained in medical images differs considerably from that residing in alphanumeric format. The difference can be attributed to four characteristics: (1) the semantics of medical knowledge extractable from images is imprecise; (2) image information contains form and spatial data, which are not expressible in conventional language; (3) a large part of image information is geometric; (4) diagnostic inferences derived from images rest on an incomplete, continuously evolving model of normality. This paper explores the differentiating characteristics of text versus images and their impact on design of a medical image database intended to allow content-based indexing and retrieval. One strategy for implementing medical image databases is presented, which employs object-oriented iconic queries, semantics by association with prototypes, and a generic schema. PMID:9147338

  9. Solubility Database

    National Institute of Standards and Technology Data Gateway

    SRD 106 IUPAC-NIST Solubility Database (Web, free access)   These solubilities are compiled from 18 volumes (Click here for List) of the International Union for Pure and Applied Chemistry(IUPAC)-NIST Solubility Data Series. The database includes liquid-liquid, solid-liquid, and gas-liquid systems. Typical solvents and solutes include water, seawater, heavy water, inorganic compounds, and a variety of organic compounds such as hydrocarbons, halogenated hydrocarbons, alcohols, acids, esters and nitrogen compounds. There are over 67,500 solubility measurements and over 1800 references.

  10. Orienteering injuries

    PubMed Central

    Folan, Jean M.

    1982-01-01

    At the Irish National Orienteering Championships in 1981 a survey of the injuries occurring over the two days of competition was carried out. Of 285 individual competitors there was a percentage injury rate of 5.26%. The article discusses the injuries and aspects of safety in orienteering. Imagesp236-ap237-ap237-bp238-ap239-ap240-a PMID:7159815

  11. Glaucoma database.

    PubMed

    K, Rangachari; M, Dhivya; Pj, Eswari Pandaranayaka; N, Prasanthi; P, Sundaresan; Sr, Krishnadas; S, Krishnaswamy

    2011-02-07

    Glaucoma, a complex heterogenous disease, is the leading cause for optic nerve-related blindness worldwide. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected. MYOC, OPTN, CYP1B1 and WDR36 are the important candidate genes. Nearly 4% of the glaucoma patients have mutation in any one of these genes. Mutation in any of these genes causes disease either directly or indirectly and the severity of the disease varies according to position of the genes. We have compiled all the related mutations and SNPs in the above genes and developed a database, to help access statistical and clinical information of particular mutation. This database is available online at http:bicmku.in:8081/glaucoma The database, constructed using SQL, contains data pertaining to the SNPs and mutation information involved in the above genes and relevant study data. The database is available for free at http:bicmku.in:8081/glaucoma.

  12. Histone Variants and Epigenetics

    PubMed Central

    Henikoff, Steven; Smith, M. Mitchell

    2015-01-01

    Histones package and compact DNA by assembling into nucleosome core particles. Most histones are synthesized at S phase for rapid deposition behind replication forks. In addition, the replacement of histones deposited during S phase by variants that can be deposited independently of replication provide the most fundamental level of chromatin differentiation. Alternative mechanisms for depositing different variants can potentially establish and maintain epigenetic states. Variants have also evolved crucial roles in chromosome segregation, transcriptional regulation, DNA repair, and other processes. Investigations into the evolution, structure, and metabolism of histone variants provide a foundation for understanding the participation of chromatin in important cellular processes and in epigenetic memory. PMID:25561719

  13. BRCA Share: A Collection of Clinical BRCA Gene Variants.

    PubMed

    Béroud, Christophe; Letovsky, Stanley I; Braastad, Corey D; Caputo, Sandrine M; Beaudoux, Olivia; Bignon, Yves Jean; Bressac-De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M; Collod-Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D; Garrec, Céline; Houdayer, Claude; Karbassi, Izabela; Lizard, Sarab; Love, Angela; Muller, Danièle; Nagan, Narasimhan; Nery, Camille R; Rai, Ghadi; Revillion, Françoise; Salgado, David; Sévenet, Nicolas; Sinilnikova, Olga; Sobol, Hagay; Stoppa-Lyonnet, Dominique; Toulas, Christine; Trautman, Edwin; Vaur, Dominique; Vilquin, Paul; Weymouth, Katelyn S; Willis, Alecia; Eisenberg, Marcia; Strom, Charles M

    2016-12-01

    As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA Share™ has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share™ databases can therefore be considered as models of successful data sharing between private companies and the academic world. © 2016 WILEY PERIODICALS, INC.

  14. Drinking Water Treatability Database (Database)

    EPA Science Inventory

    The drinking Water Treatability Database (TDB) will provide data taken from the literature on the control of contaminants in drinking water, and will be housed on an interactive, publicly-available USEPA web site. It can be used for identifying effective treatment processes, rec...

  15. Orientation and the Young Orienteer

    NASA Astrophysics Data System (ADS)

    Walsh, S. E.; Martland, J. R.

    Orientation within orienteering is dependent on the use of two basic strategies; that is, either a compass or Magnetic-North-based strategy, which relies on the use of one set of information; or the use of a map and landmark-based strategy which relies on the use of at least two sets of information. Walsh and found that, when given the choice, young children use the compass-based strategy when following complex potentially disorientating routes.The efficacy of these two basic orientation strategies was investigated within three different orienteering environments: (1) a familiar known environment; (2) a familiar unknown environment and (3) an unfamiliar unknown environment.Subjects, age range from 9 to 10think aloud particularly the introduction of basic skills to young performers. They support the argument that is essential to introduce the map and compass simultaneously and that relocation and orientation skills should be coached concurrently.

  16. VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

    PubMed Central

    Medina, Ignacio; De Maria, Alejandro; Bleda, Marta; Salavert, Francisco; Alonso, Roberto; Gonzalez, Cristina Y.; Dopazo, Joaquin

    2012-01-01

    The massive use of Next-Generation Sequencing (NGS) technologies is uncovering an unexpected amount of variability. The functional characterization of such variability, particularly in the most common form of variation found, the Single Nucleotide Variants (SNVs), has become a priority that needs to be addressed in a systematic way. VARIANT (VARIant ANalyis Tool) reports information on the variants found that include consequence type and annotations taken from different databases and repositories (SNPs and variants from dbSNP and 1000 genomes, and disease-related variants from the Genome-Wide Association Study (GWAS) catalog, Online Mendelian Inheritance in Man (OMIM), Catalog of Somatic Mutations in Cancer (COSMIC) mutations, etc). VARIANT also produces a rich variety of annotations that include information on the regulatory (transcription factor or miRNA-binding sites, etc.) or structural roles, or on the selective pressures on the sites affected by the variation. This information allows extending the conventional reports beyond the coding regions and expands the knowledge on the contribution of non-coding or synonymous variants to the phenotype studied. Contrarily to other tools, VARIANT uses a remote database and operates through efficient RESTful Web Services that optimize search and transaction operations. In this way, local problems of installation, update or disk size limitations are overcome without the need of sacrifice speed (thousands of variants are processed per minute). VARIANT is available at: http://variant.bioinfo.cipf.es. PMID:22693211

  17. Thoroughbred Horse Single Nucleotide Polymorphism and Expression Database: HSDB

    PubMed Central

    Lee, Joon-Ho; Lee, Taeheon; Lee, Hak-Kyo; Cho, Byung-Wook; Shin, Dong-Hyun; Do, Kyoung-Tag; Sung, Samsun; Kwak, Woori; Kim, Hyeon Jeong; Kim, Heebal; Cho, Seoae; Park, Kyung-Do

    2014-01-01

    Genetics is important for breeding and selection of horses but there is a lack of well-established horse-related browsers or databases. In order to better understand horses, more variants and other integrated information are needed. Thus, we construct a horse genomic variants database including expression and other information. Horse Single Nucleotide Polymorphism and Expression Database (HSDB) (http://snugenome2.snu.ac.kr/HSDB) provides the number of unexplored genomic variants still remaining to be identified in the horse genome including rare variants by using population genome sequences of eighteen horses and RNA-seq of four horses. The identified single nucleotide polymorphisms (SNPs) were confirmed by comparing them with SNP chip data and variants of RNA-seq, which showed a concordance level of 99.02% and 96.6%, respectively. Moreover, the database provides the genomic variants with their corresponding transcriptional profiles from the same individuals to help understand the functional aspects of these variants. The database will contribute to genetic improvement and breeding strategies of Thoroughbreds. PMID:25178365

  18. Analyzing Orientations

    NASA Astrophysics Data System (ADS)

    Ruggles, Clive L. N.

    Archaeoastronomical field survey typically involves the measurement of structural orientations (i.e., orientations along and between built structures) in relation to the visible landscape and particularly the surrounding horizon. This chapter focuses on the process of analyzing the astronomical potential of oriented structures, whether in the field or as a desktop appraisal, with the aim of establishing the archaeoastronomical "facts". It does not address questions of data selection (see instead Chap. 25, "Best Practice for Evaluating the Astronomical Significance of Archaeological Sites", 10.1007/978-1-4614-6141-8_25) or interpretation (see Chap. 24, "Nature and Analysis of Material Evidence Relevant to Archaeoastronomy", 10.1007/978-1-4614-6141-8_22). The main necessity is to determine the azimuth, horizon altitude, and declination in the direction "indicated" by any structural orientation. Normally, there are a range of possibilities, reflecting the various errors and uncertainties in estimating the intended (or, at least, the constructed) orientation, and in more formal approaches an attempt is made to assign a probability distribution extending over a spread of declinations. These probability distributions can then be cumulated in order to visualize and analyze the combined data from several orientations, so as to identify any consistent astronomical associations that can then be correlated with the declinations of particular astronomical objects or phenomena at any era in the past. The whole process raises various procedural and methodological issues and does not proceed in isolation from the consideration of corroborative data, which is essential in order to develop viable cultural interpretations.

  19. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

    PubMed

    Savige, Judy; Dagher, Hayat; Povey, Sue

    2014-07-01

    This study examined whether gene-specific DNA variant databases for inherited diseases of the kidney fulfilled the Human Variome Project recommendations of being complete, accurate, clinically relevant and freely available. A recent review identified 60 inherited renal diseases caused by mutations in 132 genes. The disease name, MIM number, gene name, together with "mutation" or "database," were used to identify web-based databases. Fifty-nine diseases (98%) due to mutations in 128 genes had a variant database. Altogether there were 349 databases (a median of 3 per gene, range 0-6), but no gene had two databases with the same number of variants, and 165 (50%) databases included fewer than 10 variants. About half the databases (180, 54%) had been updated in the previous year. Few (77, 23%) were curated by "experts" but these included nine of the 11 with the most variants. Even fewer databases (41, 12%) included clinical features apart from the name of the associated disease. Most (223, 67%) could be accessed without charge, including those for 50 genes (40%) with the maximum number of variants. Future efforts should focus on encouraging experts to collaborate on a single database for each gene affected in inherited renal disease, including both unpublished variants, and clinical phenotypes. © 2014 WILEY PERIODICALS, INC.

  20. VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.

    PubMed

    Hart, Steven N; Duffy, Patrick; Quest, Daniel J; Hossain, Asif; Meiners, Mike A; Kocher, Jean-Pierre

    2016-03-01

    Next-generation sequencing platforms are widely used to discover variants associated with disease. The processing of sequencing data involves read alignment, variant calling, variant annotation and variant filtering. The standard file format to hold variant calls is the variant call format (VCF) file. According to the format specifications, any arbitrary annotation can be added to the VCF file for downstream processing. However, most downstream analysis programs disregard annotations already present in the VCF and re-annotate variants using the annotation provided by that particular program. This precludes investigators who have collected information on variants from literature or other sources from including these annotations in the filtering and mining of variants. We have developed VCF-Miner, a graphical user interface-based stand-alone tool, to mine variants and annotation stored in the VCF. Powered by a MongoDB database engine, VCF-Miner enables the stepwise trimming of non-relevant variants. The grouping feature implemented in VCF-Miner can be used to identify somatic variants by contrasting variants in tumor and in normal samples or to identify recessive/dominant variants in family studies. It is not limited to human data, but can also be extended to include non-diploid organisms. It also supports copy number or any other variant type supported by the VCF specification. VCF-Miner can be used on a personal computer or large institutional servers and is freely available for download from http://bioinformaticstools.mayo.edu/research/vcf-miner/.

  1. Atomic Databases

    NASA Astrophysics Data System (ADS)

    Mendoza, Claudio

    2000-10-01

    Atomic and molecular data are required in a variety of fields ranging from the traditional astronomy, atmospherics and fusion research to fast growing technologies such as lasers, lighting, low-temperature plasmas, plasma assisted etching and radiotherapy. In this context, there are some research groups, both theoretical and experimental, scattered round the world that attend to most of this data demand, but the implementation of atomic databases has grown independently out of sheer necessity. In some cases the latter has been associated with the data production process or with data centers involved in data collection and evaluation; but sometimes it has been the result of individual initiatives that have been quite successful. In any case, the development and maintenance of atomic databases call for a number of skills and an entrepreneurial spirit that are not usually associated with most physics researchers. In the present report we present some of the highlights in this area in the past five years and discuss what we think are some of the main issues that have to be addressed.

  2. Mucopolysaccharidosis: A New Variant?

    ERIC Educational Resources Information Center

    Primrose, D. A.

    1972-01-01

    Described is a possibly new variant of mucopolysaccharidosis characterized by progressive mental and motor deficiency, bone abnormalities, a generalized skin lesion, and abnormal mucopolysaccharides in the urine as seen in a 20-year-old female. (DB)

  3. Stackfile Database

    NASA Technical Reports Server (NTRS)

    deVarvalho, Robert; Desai, Shailen D.; Haines, Bruce J.; Kruizinga, Gerhard L.; Gilmer, Christopher

    2013-01-01

    This software provides storage retrieval and analysis functionality for managing satellite altimetry data. It improves the efficiency and analysis capabilities of existing database software with improved flexibility and documentation. It offers flexibility in the type of data that can be stored. There is efficient retrieval either across the spatial domain or the time domain. Built-in analysis tools are provided for frequently performed altimetry tasks. This software package is used for storing and manipulating satellite measurement data. It was developed with a focus on handling the requirements of repeat-track altimetry missions such as Topex and Jason. It was, however, designed to work with a wide variety of satellite measurement data [e.g., Gravity Recovery And Climate Experiment -- GRACE). The software consists of several command-line tools for importing, retrieving, and analyzing satellite measurement data.

  4. Industrial Orientation.

    ERIC Educational Resources Information Center

    Rasor, Leslie; Brooks, Valerie

    These eight modules for an industrial orientation class were developed by a project to design an interdisciplinary program of basic skills training for disadvantaged students in a Construction Technology Program (see Note). The Drafting module overviews drafting career opportunities, job markets, salaries, educational requirements, and basic…

  5. DBATE: database of alternative transcripts expression.

    PubMed

    Bianchi, Valerio; Colantoni, Alessio; Calderone, Alberto; Ausiello, Gabriele; Ferrè, Fabrizio; Helmer-Citterich, Manuela

    2013-01-01

    The use of high-throughput RNA sequencing technology (RNA-seq) allows whole transcriptome analysis, providing an unbiased and unabridged view of alternative transcript expression. Coupling splicing variant-specific expression with its functional inference is still an open and difficult issue for which we created the DataBase of Alternative Transcripts Expression (DBATE), a web-based repository storing expression values and functional annotation of alternative splicing variants. We processed 13 large RNA-seq panels from human healthy tissues and in disease conditions, reporting expression levels and functional annotations gathered and integrated from different sources for each splicing variant, using a variant-specific annotation transfer pipeline. The possibility to perform complex queries by cross-referencing different functional annotations permits the retrieval of desired subsets of splicing variant expression values that can be visualized in several ways, from simple to more informative. DBATE is intended as a novel tool to help appreciate how, and possibly why, the transcriptome expression is shaped. DATABASE URL: http://bioinformatica.uniroma2.it/DBATE/.

  6. [Patient oriented healthcare planning].

    PubMed

    Fülöp, Gerhard

    2017-08-01

    Patient orientation has already been taken into account in healthcare planning approaches in Austria by using constantly improved routine health data, though primarily falling in the category of an indirect influence on or improvement of the individual patient-provider interaction. Data bases available in "Österreichische Gesundheitsinformationssystem (ÖGIS)" at Gesundheit Österreich GmbH (GÖG) have been used for years to both intensify the patient orientation within the needs-based planning framework (designed as "integrated regional healthcare planning", bearing the interactions between the sectors in mind) and to define and monitor the ten "Health Goals Austria". For the next few years, we can expect a further advancement and completion of the database in favour of healthcare planning to support the necessary adaptation and reorganization of the regional healthcare systems, the intensification of healthcare research and subsequently an improved patient orientation in Austria. In general, efforts are being made in Austria to improve the integration of the patient's perspective in the area of health care planning (e.g. by involving patients 'attorneys' or self-help groups). However, these efforts have not yet reached the stage of full implementation (inter alia also because the organizational potential for improvement or the quality of results from the patient's perception could not yet be adequately taken into account). Accordingly, further efforts to this end will be necessary in the upcoming years. Copyright © 2017. Published by Elsevier GmbH.

  7. Device Oriented Project Controller

    SciTech Connect

    Dalesio, Leo; Kraimer, Martin

    2013-11-20

    This proposal is directed at the issue of developing control systems for very large HEP projects. A de-facto standard in accelerator control is the Experimental Physics and Industrial Control System (EPICS), which has been applied successfully to many physics projects. EPICS is a channel based system that requires that each channel of each device be configured and controlled. In Phase I, the feasibility of a device oriented extension to the distributed channel database was demonstrated by prototyping a device aware version of an EPICS I/O controller that functions with the current version of the channel access communication protocol. Extensions have been made to the grammar to define the database. Only a multi-stage position controller with limit switches was developed in the demonstration, but the grammar should support a full range of functional record types. In phase II, a full set of record types will be developed to support all existing record types, a set of process control functions for closed loop control, and support for experimental beam line control. A tool to configure these records will be developed. A communication protocol will be developed or extensions will be made to Channel Access to support introspection of components of a device. Performance bench marks will be made on both communication protocol and the database. After these records and performance tests are under way, a second of the grammar will be undertaken.

  8. The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.

    PubMed

    Fernández-Suárez, Xosé M; Rigden, Daniel J; Galperin, Michael Y

    2014-01-01

    The 2014 Nucleic Acids Research Database Issue includes descriptions of 58 new molecular biology databases and recent updates to 123 databases previously featured in NAR or other journals. For convenience, the issue is now divided into eight sections that reflect major subject categories. Among the highlights of this issue are six databases of the transcription factor binding sites in various organisms and updates on such popular databases as CAZy, Database of Genomic Variants (DGV), dbGaP, DrugBank, KEGG, miRBase, Pfam, Reactome, SEED, TCDB and UniProt. There is a strong block of structural databases, which includes, among others, the new RNA Bricks database, updates on PDBe, PDBsum, ArchDB, Gene3D, ModBase, Nucleic Acid Database and the recently revived iPfam database. An update on the NCBI's MMDB describes VAST+, an improved tool for protein structure comparison. Two articles highlight the development of the Structural Classification of Proteins (SCOP) database: one describes SCOPe, which automates assignment of new structures to the existing SCOP hierarchy; the other one describes the first version of SCOP2, with its more flexible approach to classifying protein structures. This issue also includes a collection of articles on bacterial taxonomy and metagenomics, which includes updates on the List of Prokaryotic Names with Standing in Nomenclature (LPSN), Ribosomal Database Project (RDP), the Silva/LTP project and several new metagenomics resources. The NAR online Molecular Biology Database Collection, http://www.oxfordjournals.org/nar/database/c/, has been expanded to 1552 databases. The entire Database Issue is freely available online on the Nucleic Acids Research website (http://nar.oxfordjournals.org/).

  9. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

    PubMed Central

    Gala, Manish; Abecasis, Goncalo; Bezieau, Stephane; Brenner, Hermann; Butterbach, Katja; Caan, Bette J.; Carlson, Christopher S.; Casey, Graham; Chang-Claude, Jenny; Conti, David V.; Curtis, Keith R.; Duggan, David; Gallinger, Steven; Haile, Robert W.; Harrison, Tabitha A.; Hayes, Richard B.; Hoffmeister, Michael; Hopper, John L.; Hudson, Thomas J.; Jenkins, Mark A.; Küry, Sébastien; Le Marchand, Loic; Leal, Suzanne M.; Newcomb, Polly A.; Nickerson, Deborah A.; Potter, John D.; Schoen, Robert E.; Schumacher, Fredrick R.; Seminara, Daniela; Slattery, Martha L.; Hsu, Li; Chan, Andrew T.; White, Emily; Berndt, Sonja I.; Peters, Ulrike

    2016-01-01

    Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs). We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33). We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s). PMID:27379672

  10. Ontology-driven mapping of temporal data in biomedical databases.

    PubMed

    Narayanan, Preetha S; O'Connor, Martin J; Das, Amar K

    2006-01-01

    Biomedical databases contain considerable amounts of time-oriented data, which are not typically in a format suitable for querying complex temporal patterns. We address this problem in implementing Synchronus, a tool for ontology-driven mapping of data from an existing relational database to a database schema with a uniform temporal representation. We discuss the design of Synchronus, which consists of a schema-mapping ontology and a data-mapping algorithm that together provide general capabilities for database transformation.

  11. Database computing in HEP. Progress report

    SciTech Connect

    Day, C.T.; Loken, S.; MacFarlane, J.F.; May, E.; Lifka, D.; Lusk, E.; Price, L.E.; Baden, A.; Grossman, R.; Qin, X.; Cormell, L.; Leibold, P.; Liu, D.; Nixdorf, U.; Scipioni, B.; Song, T.

    1992-12-31

    The major SSC experiments are expected to produce up to 1 Petabyte of data per year each. Once the primary reconstruction is completed by farms of inexpensive processors. I/O becomes a major factor in further analysis of the data. We believe that the application of database techniques can significantly reduce the I/O performed in these analyses. We present examples of such I/O reductions in prototype based on relational and object-oriented databases of CDF data samples.

  12. Chapter 4: Variant descriptions

    Treesearch

    Duncan C. Lutes; Donald C. E. Robinson

    2003-01-01

    The Fire and Fuels Extension (FFE) to the Forest Vegetation Simulator (FVS) simulates fuel dynamics and potential fire behavior over time, in the context of stand development and management. This report documents differences between geographic variants of the FFE. It is a companion document to the FFE "Model Description" and "User's Guide."...

  13. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

    PubMed

    Wettstein, Sarah; Underhaug, Jarl; Perez, Belen; Marsden, Brian D; Yue, Wyatt W; Martinez, Aurora; Blau, Nenad

    2015-03-01

    The wide range of metabolic phenotypes in phenylketonuria is due to a large number of variants causing variable impairment in phenylalanine hydroxylase function. A total of 834 phenylalanine hydroxylase gene variants from the locus-specific database PAHvdb and genotypes of 4181 phenylketonuria patients from the BIOPKU database were characterized using FoldX, SIFT Blink, Polyphen-2 and SNPs3D algorithms. Obtained data was correlated with residual enzyme activity, patients' phenotype and tetrahydrobiopterin responsiveness. A descriptive analysis of both databases was compiled and an interactive viewer in PAHvdb database was implemented for structure visualization of missense variants. We found a quantitative relationship between phenylalanine hydroxylase protein stability and enzyme activity (r(s) = 0.479), between protein stability and allelic phenotype (r(s) = -0.458), as well as between enzyme activity and allelic phenotype (r(s) = 0.799). Enzyme stability algorithms (FoldX and SNPs3D), allelic phenotype and enzyme activity were most powerful to predict patients' phenotype and tetrahydrobiopterin response. Phenotype prediction was most accurate in deleterious genotypes (≈ 100%), followed by homozygous (92.9%), hemizygous (94.8%), and compound heterozygous genotypes (77.9%), while tetrahydrobiopterin response was correctly predicted in 71.0% of all cases. To our knowledge this is the largest study using algorithms for the prediction of patients' phenotype and tetrahydrobiopterin responsiveness in phenylketonuria patients, using data from the locus-specific and genotypes database.

  14. Overlap in Bibliographic Databases.

    ERIC Educational Resources Information Center

    Hood, William W.; Wilson, Concepcion S.

    2003-01-01

    Examines the topic of Fuzzy Set Theory to determine the overlap of coverage in bibliographic databases. Highlights include examples of comparisons of database coverage; frequency distribution of the degree of overlap; records with maximum overlap; records unique to one database; intra-database duplicates; and overlap in the top ten databases.…

  15. JICST Factual Database JICST DNA Database

    NASA Astrophysics Data System (ADS)

    Shirokizawa, Yoshiko; Abe, Atsushi

    Japan Information Center of Science and Technology (JICST) has started the on-line service of DNA database in October 1988. This database is composed of EMBL Nucleotide Sequence Library and Genetic Sequence Data Bank. The authors outline the database system, data items and search commands. Examples of retrieval session are presented.

  16. Human Variome Project Quality Assessment Criteria for Variation Databases.

    PubMed

    Vihinen, Mauno; Hancock, John M; Maglott, Donna R; Landrum, Melissa J; Schaafsma, Gerard C P; Taschner, Peter

    2016-06-01

    Numerous databases containing information about DNA, RNA, and protein variations are available. Gene-specific variant databases (locus-specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should also be made clear they may have widely varying contents, infrastructure, and quality. Quality is very important to evaluate because these databases may affect health decision-making, research, and clinical practice. The Human Variome Project (HVP) established a Working Group for Variant Database Quality Assessment. The basic principle was to develop a simple system that nevertheless provides a good overview of the quality of a database. The HVP quality evaluation criteria that resulted are divided into four main components: data quality, technical quality, accessibility, and timeliness. This report elaborates on the developed quality criteria and how implementation of the quality scheme can be achieved. Examples are provided for the current status of the quality items in two different databases, BTKbase, an LSDB, and ClinVar, a central archive of submissions about variants and their clinical significance. © 2016 WILEY PERIODICALS, INC.

  17. Orienting hypnosis.

    PubMed

    Hope, Anna E; Sugarman, Laurence I

    2015-01-01

    This article presents a new frame for understanding hypnosis and its clinical applications. Despite great potential to transform health and care, hypnosis research and clinical integration is impaired in part by centuries of misrepresentation and ignorance about its demonstrated efficacy. The authors contend that advances in the field are primarily encumbered by the lack of distinct boundaries and definitions. Here, hypnosis, trance, and mind are all redefined and grounded in biological, neurological, and psychological phenomena. Solutions are proposed for boundary and language problems associated with hypnosis. The biological role of novelty stimulating an orienting response that, in turn, potentiates systemic plasticity forms the basis for trance. Hypnosis is merely the skill set that perpetuates and influences trance. This formulation meshes with many aspects of Milton Erickson's legacy and Ernest Rossi's recent theory of mind and health. Implications of this hypothesis for clinical skills, professional training, and research are discussed.

  18. Dietary Supplement Ingredient Database

    MedlinePlus

    ... and US Department of Agriculture Dietary Supplement Ingredient Database Toggle navigation Menu Home About DSID Mission Current ... values can be saved to build a small database or add to an existing database for national, ...

  19. A Cooperative Hypertext Interface to Relational Databases

    PubMed Central

    Barsalou, Thierry; Wiederhold, Gio

    1989-01-01

    Biomedical information systems demand cooperative interfaces that maximize the flow of information between machine and user. Within the framework of the PENGUIN project—an object-oriented architecture for expert database systems—, we describe the use of hypertext tools for designing sophisticated interfaces to the relational-database component of PENGUIN. The interface designer employs HyperCard to construct a visual representation of the underlying database that requires the user to recognize rather than to recall the appropriate command name. We show that the resulting direct-manipulation style of interaction facilitates greatly information retrieval and presentation.

  20. EDITORIAL: Optical orientation Optical orientation

    NASA Astrophysics Data System (ADS)

    SAME ADDRESS *, Yuri; Landwehr, Gottfried

    2008-11-01

    priority of the discovery in the literature, which was partly caused by the existence of the Iron Curtain. I had already enjoyed contact with Boris in the 1980s when the two volumes of Landau Level Spectroscopy were being prepared [2]. He was one of the pioneers of magneto-optics in semiconductors. In the 1950s the band structure of germanium and silicon was investigated by magneto-optical methods, mainly in the United States. No excitonic effects were observed and the band structure parameters were determined without taking account of excitons. However, working with cuprous oxide, which is a direct semiconductor with a relative large energy gap, Zakharchenya and his co-worker Seysan showed that in order to obtain correct band structure parameters, it is necessary to take excitons into account [3]. About 1970 Boris started work on optical orientation. Early work by Hanle in Germany in the 1920s on the depolarization of luminescence in mercury vapour by a transverse magnetic field was not appreciated for a long time. Only in the late 1940s did Kastler and co-workers in Paris begin a systematic study of optical pumping, which led to the award of a Nobel prize. The ideas of optical pumping were first applied by Georges Lampel to solid state physics in 1968. He demonstrated optical orientation of free carriers in silicon. The detection method was nuclear magnetic resonance; optically oriented free electrons dynamically polarized the 29Si nuclei of the host lattice. The first optical detection of spin orientation was demonstrated by with the III-V semiconductor GaSb by Parsons. Due to the various interaction mechanisms of spins with their environment, the effects occurring in semiconductors are naturally more complex than those in atoms. Optical detection is now the preferred method to detect spin alignment in semiconductors. The orientation of spins in crystals pumped with circularly polarized light is deduced from the degree of circular polarization of the recombination

  1. Variants of Uncertainty

    DTIC Science & Technology

    1981-05-15

    Variants of Uncertainty Daniel Kahneman University of British Columbia Amos Tversky Stanford University DTI-C &%E-IECTE ~JUNO 1i 19 8 1j May 15, 1981... Dennett , 1979) in which different parts have ac- cess to different data, assign then different weights and hold different views of the situation...2robable and t..h1 provable. Oxford- Claredor Press, 1977. Dennett , D.C. Brainstorms. Hassocks: Harvester, 1979. Donchin, E., Ritter, W. & McCallum, W.C

  2. Variants of glycoside hydrolases

    DOEpatents

    Teter, Sarah; Ward, Connie; Cherry, Joel; Jones, Aubrey; Harris, Paul; Yi, Jung

    2017-07-11

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  3. Variants of glycoside hydrolases

    DOEpatents

    Teter, Sarah; Ward, Connie; Cherry, Joel; Jones, Aubrey; Harris, Paul; Yi, Jung

    2013-02-26

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  4. Variants of glycoside hydrolases

    DOEpatents

    Teter, Sarah [Davis, CA; Ward, Connie [Hamilton, MT; Cherry, Joel [Davis, CA; Jones, Aubrey [Davis, CA; Harris, Paul [Carnation, WA; Yi, Jung [Sacramento, CA

    2011-04-26

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  5. Enhanced variants of IDE algorithm

    NASA Astrophysics Data System (ADS)

    Bujok, Petr

    2017-07-01

    The performance of a new mechanism applied on a differential evolution algorithm with an individual-dependent mechanism (IDE) is studied experimentally. Three new IDE variants are proposed and compared with the original IDE variant. The performance of all studied algorithms was compared on each problem of CEC 2015 test suite. The newly proposed IDE variants mostly outperformed the original IDE variant significantly. The results show that the best results are for the newly proposed IDE variant with an enhanced mutation scheme and IDE with the control of the population diversity.

  6. Orientation field estimation for latent fingerprint enhancement.

    PubMed

    Feng, Jianjiang; Zhou, Jie; Jain, Anil K

    2013-04-01

    Identifying latent fingerprints is of vital importance for law enforcement agencies to apprehend criminals and terrorists. Compared to live-scan and inked fingerprints, the image quality of latent fingerprints is much lower, with complex image background, unclear ridge structure, and even overlapping patterns. A robust orientation field estimation algorithm is indispensable for enhancing and recognizing poor quality latents. However, conventional orientation field estimation algorithms, which can satisfactorily process most live-scan and inked fingerprints, do not provide acceptable results for most latents. We believe that a major limitation of conventional algorithms is that they do not utilize prior knowledge of the ridge structure in fingerprints. Inspired by spelling correction techniques in natural language processing, we propose a novel fingerprint orientation field estimation algorithm based on prior knowledge of fingerprint structure. We represent prior knowledge of fingerprints using a dictionary of reference orientation patches. which is constructed using a set of true orientation fields, and the compatibility constraint between neighboring orientation patches. Orientation field estimation for latents is posed as an energy minimization problem, which is solved by loopy belief propagation. Experimental results on the challenging NIST SD27 latent fingerprint database and an overlapped latent fingerprint database demonstrate the advantages of the proposed orientation field estimation algorithm over conventional algorithms.

  7. Sleep atlas and multimedia database.

    PubMed

    Penzel, T; Kesper, K; Mayer, G; Zulley, J; Peter, J H

    2000-01-01

    The ENN sleep atlas and database was set up on a dedicated server connected to the internet thus providing all services such as WWW, ftp and telnet access. The database serves as a platform to promote the goals of the European Neurological Network, to exchange patient cases for second opinion between experts and to create a case-oriented multimedia sleep atlas with descriptive text, images and video-clips of all known sleep disorders. The sleep atlas consists of a small public and a large private part for members of the consortium. 20 patient cases were collected and presented with educational information similar to published case reports. Case reports are complemented with images, video-clips and biosignal recordings. A Java based viewer for biosignals provided in EDF format was installed in order to move free within the sleep recordings without the need to download the full recording on the client.

  8. Database applicaton for absolute spectrophotometry

    NASA Astrophysics Data System (ADS)

    Bochkov, Valery V.; Shumko, Sergiy

    2002-12-01

    32-bit database application with multidocument interface for Windows has been developed to calculate absolute energy distributions of observed spectra. The original database contains wavelength calibrated observed spectra which had been already passed through apparatus reductions such as flatfielding, background and apparatus noise subtracting. Absolute energy distributions of observed spectra are defined in unique scale by means of registering them simultaneously with artificial intensity standard. Observations of sequence of spectrophotometric standards are used to define absolute energy of the artificial standard. Observations of spectrophotometric standards are used to define optical extinction in selected moments. FFT algorithm implemented in the application allows performing convolution (deconvolution) spectra with user-defined PSF. The object-oriented interface has been created using facilities of C++ libraries. Client/server model with Windows Socket functionality based on TCP/IP protocol is used to develop the application. It supports Dynamic Data Exchange conversation in server mode and uses Microsoft Exchange communication facilities.

  9. NEOBASE: databasing the neocortical microcircuit.

    PubMed

    Muhammad, Asif Jan; Markram, Henry

    2005-01-01

    Mammals adapt to a rapidly changing world because of the sophisticated perceptual and cognitive function enabled by the neocortex. The neocortex, which has expanded to constitute nearly 80% of the human brain seems to have arisen from repeated duplication of a stereotypical template of neurons and synaptic circuits with subtle specializations in different brain regions and species. Determining the design and function of this microcircuitry is therefore of paramount importance to understanding normal and abnormal higher brain function. Recent advances in recording synaptically-coupled neurons has allowed rapid dissection of the neocortical microcircuitry thus yielding a massive amount of quantitative anatomical, electrical and gene expression data on the neurons and the synaptic circuits that connect the neurons. Due to the availability of the above mentioned data, it has now become imperative to database the neurons of the microcircuit and their synaptic connections. The NEOBASE project, aims to archive the neocortical microcircuit data in a manner that facilitates development of advanced data mining applications, statistical and bioinformatics analyses tools, custom microcircuit builders, and visualization and simulation applications. The database architecture is based on ROOT, a software environment that allows the construction of an object oriented database with numerous relational capabilities. The proposed architecture allows construction of a database that closely mimics the architecture of the real microcircuit, which facilitates the interface with virtually any application, allows for data format evolution, and aims for full interoperability with other databases. NEOBASE will provide an important resource and research tool for studying the microcircuit basis of normal and abnormal neocortical function. The database will be available to local as well as remote users using Grid based tools and technologies.

  10. UCSC Data Integrator and Variant Annotation Integrator

    PubMed Central

    Hinrichs, Angie S.; Raney, Brian J.; Speir, Matthew L.; Rhead, Brooke; Casper, Jonathan; Karolchik, Donna; Kuhn, Robert M.; Rosenbloom, Kate R.; Zweig, Ann S.; Haussler, David; Kent, W. James

    2016-01-01

    Summary: Two new tools on the UCSC Genome Browser web site provide improved ways of combining information from multiple datasets, optionally including the user's own custom track data and/or data from track hubs. The Data Integrator combines columns from multiple data tracks, showing all items from the first track along with overlapping items from the other tracks. The Variant Annotation Integrator is tailored to adding functional annotations to variant calls; it offers a more restricted set of underlying data tracks but adds predictions of each variant's consequences for any overlapping or nearby gene transcript. When available, it optionally adds additional annotations including effect prediction scores from dbNSFP for missense mutations, ENCODE regulatory summary tracks and conservation scores. Availability and implementation: The web tools are freely available at http://genome.ucsc.edu/ and the underlying database is available for download at http://hgdownload.cse.ucsc.edu/. The software (written in C and Javascript) is available from https://genome-store.ucsc.edu/ and is freely available for academic and non-profit usage; commercial users must obtain a license. Contact: angie@soe.ucsc.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:26740527

  11. Design considerations for a space database

    NASA Technical Reports Server (NTRS)

    Moss, Lance M.

    1989-01-01

    Part of the information used in a real-time simulator is stored in the visual database. This information is processed by an image generator and displayed as a real-time visual image. The database must be constructed in a specific format, and it should efficiently utilize the capacities of the image generator that is was created for. A visual simulation is crucially dependent upon the success with which the database provides visual cues and recognizable scenes. For this reason, more and more attention is being paid to the art and science of creating effective real-time visual databases. Investigated here are the database design considerations required for a space-oriented real-time simulator. Space applications often require unique designs that correspond closely to the particular image-generator hardware and visual-database-management software. Specific examples from the databases constructed for NASA and its Evans and Sutherland CT6 image generator illustrate the various design strategies used in a space-simulation environment. These database design considerations are essential for all who would create a space database.

  12. Canonical and variant histones of protozoan parasites.

    PubMed

    Dalmasso, Maria Carolina; Sullivan, William Joseph; Angel, Sergio Oscar

    2011-06-01

    Protozoan parasites have tremendously diverse lifestyles that require adaptation to a remarkable assortment of different environmental conditions. In order to complete their life cycles, protozoan parasites rely on fine-tuning gene expression. In general, protozoa use novel regulatory elements, transcription factors, and epigenetic mechanisms to regulate their transcriptomes. One of the most surprising findings includes the nature of their histones--these primitive eukaryotes lack some histones yet harbor novel histone variants of unknown function. In this review, we describe the histone components of different protozoan parasites based on literature and database searching. We summarize the key discoveries regarding histones and histone variants and their impact on chromatin regulation in protozoan parasites. In addition, we list histone genes IDs, sequences, and genomic localization of several protozoan parasites and Microsporidia histones, obtained from a thorough search of genome databases. We then compare these findings with those observed in higher eukaryotes, allowing us to highlight some novel aspects of epigenetic regulation in protists and to propose questions to be addressed in the upcoming years.

  13. Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.

    PubMed

    Hassan, Nik Norliza Nik; Plazzer, John-Paul; Smith, Timothy D; Halim-Fikri, Hashim; Macrae, Finlay; Zubaidi, A A L; Zilfalil, Bin Alwi

    2016-02-26

    Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations. The ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed. An overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world.

  14. The human FOXL2 mutation database.

    PubMed

    Beysen, Diane; Vandesompele, Jo; Messiaen, Ludwine; De Paepe, Anne; De Baere, Elfride

    2004-09-01

    Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF). In 2001, mutations in the FOXL2 gene, encoding a forkhead transcription factor, were shown to cause both BPES type I and II. Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients. In addition, a few FOXL2 variants have been reported in isolated POF patients and XX males. Previously, our group has described a large number of FOXL2 mutations, thereby demonstrating the existence of two mutational hotspots in FOXL2, intra- and interfamilial phenotypic variability in BPES families, and genotype-phenotype correlations for a number of mutations in BPES patients. Here we describe a locus-specific Human FOXL2 Mutation Database (http://medgen.ugent.be/foxl2/), created using the MuStaR software. Our database contains general information about the FOXL2 gene, as well as details about 135 intragenic mutations and variants of FOXL2, obtained from published papers, abstracts of meetings, and from unpublished data produced by our group. Not included in the current version of the database are variants residing outside the coding region of FOXL2 and molecular cytogenetic rearrangements of the FOXL2 locus. The Human FOXL2 Mutation Database was created to provide a unique publicly available online resource of information about human FOXL2 mutations/variants associated with BPES and POF. It allows remote users to submit new mutations to the database and to query the database using a web form. It will facilitate evaluation of the pathogenicity of a particular mutation, as it contains data about disease-causing mutations and polymorphisms in BPES and isolated POF patients, and a link to the known FOXL2 orthologs. Moreover, it will allow us to establish more accurate genotype-phenotype correlations, since

  15. HCVIVdb: The hepatitis-C IRES variation database.

    PubMed

    Floden, Evan W; Khawaja, Anas; Vopálenský, Václav; Pospíšek, Martin

    2016-08-15

    Sequence variability in the hepatitis C virus (HCV) genome has led to the development and classification of six genotypes and a number of subtypes. The HCV 5' untranslated region mainly comprises an internal ribosomal entry site (IRES) responsible for cap-independent synthesis of the viral polyprotein and is conserved among all HCV genotypes. Considering the possible high impact of variations in HCV IRES on viral protein production and thus virus replication, we decided to collect the available data on known nucleotide variants in the HCV IRES and their impact on IRES function in translation initiation. The HCV IRES variation database (HCVIVdb) is a collection of naturally occurring and engineered mutation entries for the HCV IRES. Each entry contains contextual information pertaining to the entry such as the HCV genotypic background and links to the original publication. Where available, quantitative data on the IRES efficiency in translation have been collated along with details on the reporter system used to generate the data. Data are displayed both in a tabular and graphical formats and allow direct comparison of results from different experiments. Together the data provide a central resource for researchers in the IRES and hepatitis C-oriented fields. The collation of over 1900 mutations enables systematic analysis of the HCV IRES. The database is mainly dedicated to detailed comparative and functional analysis of all the HCV IRES domains, which can further lead to the development of site-specific drug designs and provide a guide for future experiments. HCVIVdb is available at http://www.hcvivdb.org .

  16. Databases: Beyond the Basics.

    ERIC Educational Resources Information Center

    Whittaker, Robert

    This presented paper offers an elementary description of database characteristics and then provides a survey of databases that may be useful to the teacher and researcher in Slavic and East European languages and literatures. The survey focuses on commercial databases that are available, usable, and needed. Individual databases discussed include:…

  17. Databases: Beyond the Basics.

    ERIC Educational Resources Information Center

    Whittaker, Robert

    This presented paper offers an elementary description of database characteristics and then provides a survey of databases that may be useful to the teacher and researcher in Slavic and East European languages and literatures. The survey focuses on commercial databases that are available, usable, and needed. Individual databases discussed include:…

  18. Reflective Database Access Control

    ERIC Educational Resources Information Center

    Olson, Lars E.

    2009-01-01

    "Reflective Database Access Control" (RDBAC) is a model in which a database privilege is expressed as a database query itself, rather than as a static privilege contained in an access control list. RDBAC aids the management of database access controls by improving the expressiveness of policies. However, such policies introduce new interactions…

  19. Reflective Database Access Control

    ERIC Educational Resources Information Center

    Olson, Lars E.

    2009-01-01

    "Reflective Database Access Control" (RDBAC) is a model in which a database privilege is expressed as a database query itself, rather than as a static privilege contained in an access control list. RDBAC aids the management of database access controls by improving the expressiveness of policies. However, such policies introduce new interactions…

  20. More Publications about Databases.

    ERIC Educational Resources Information Center

    Tenopir, Carol

    1983-01-01

    Reviews recent publications in online database literature including three newsletters ("Database Update,""Database Alert," and "Information Hotline"), a directory ("Guide to Online Databases"), and a textbook ("Online Reference and Information Retrieval" by Roger C. Palmer). The new "Guide to Searching ONTAP ABI/INFORM" is noted. (EJS)

  1. A case study for a digital seabed database: Bohai Sea engineering geology database

    NASA Astrophysics Data System (ADS)

    Tianyun, Su; Shikui, Zhai; Baohua, Liu; Ruicai, Liang; Yanpeng, Zheng; Yong, Wang

    2006-07-01

    This paper discusses the designing plan of ORACLE-based Bohai Sea engineering geology database structure from requisition analysis, conceptual structure analysis, logical structure analysis, physical structure analysis and security designing. In the study, we used the object-oriented Unified Modeling Language (UML) to model the conceptual structure of the database and used the powerful function of data management which the object-oriented and relational database ORACLE provides to organize and manage the storage space and improve its security performance. By this means, the database can provide rapid and highly effective performance in data storage, maintenance and query to satisfy the application requisition of the Bohai Sea Oilfield Paradigm Area Information System.

  2. Human Mitochondrial Protein Database

    National Institute of Standards and Technology Data Gateway

    SRD 131 Human Mitochondrial Protein Database (Web, free access)   The Human Mitochondrial Protein Database (HMPDb) provides comprehensive data on mitochondrial and human nuclear encoded proteins involved in mitochondrial biogenesis and function. This database consolidates information from SwissProt, LocusLink, Protein Data Bank (PDB), GenBank, Genome Database (GDB), Online Mendelian Inheritance in Man (OMIM), Human Mitochondrial Genome Database (mtDB), MITOMAP, Neuromuscular Disease Center and Human 2-D PAGE Databases. This database is intended as a tool not only to aid in studying the mitochondrion but in studying the associated diseases.

  3. Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics

    PubMed Central

    Hu, Yi-Juan; Berndt, Sonja I.; Gustafsson, Stefan; Ganna, Andrea; Berndt, Sonja I.; Gustafsson, Stefan; Mägi, Reedik; Ganna, Andrea; Wheeler, Eleanor; Feitosa, Mary F.; Justice, Anne E.; Monda, Keri L.; Croteau-Chonka, Damien C.; Day, Felix R.; Esko, Tõnu; Fall, Tove; Ferreira, Teresa; Gentilini, Davide; Jackson, Anne U.; Luan, Jian’an; Randall, Joshua C.; Vedantam, Sailaja; Willer, Cristen J.; Winkler, Thomas W.; Wood, Andrew R.; Workalemahu, Tsegaselassie; Hu, Yi-Juan; Lee, Sang Hong; Liang, Liming; Lin, Dan-Yu; Min, Josine L.; Neale, Benjamin M.; Thorleifsson, Gudmar; Yang, Jian; Albrecht, Eva; Amin, Najaf; Bragg-Gresham, Jennifer L.; Cadby, Gemma; den Heijer, Martin; Eklund, Niina; Fischer, Krista; Goel, Anuj; Hottenga, Jouke-Jan; Huffman, Jennifer E.; Jarick, Ivonne; Johansson, Åsa; Johnson, Toby; Kanoni, Stavroula; Kleber, Marcus E.; König, Inke R.; Kristiansson, Kati; Kutalik, Zoltán; Lamina, Claudia; Lecoeur, Cecile; Li, Guo; Mangino, Massimo; McArdle, Wendy L.; Medina-Gomez, Carolina; Müller-Nurasyid, Martina; Ngwa, Julius S.; Nolte, Ilja M.; Paternoster, Lavinia; Pechlivanis, Sonali; Perola, Markus; Peters, Marjolein J.; Preuss, Michael; Rose, Lynda M.; Shi, Jianxin; Shungin, Dmitry; Smith, Albert Vernon; Strawbridge, Rona J.; Surakka, Ida; Teumer, Alexander; Trip, Mieke D.; Tyrer, Jonathan; Van Vliet-Ostaptchouk, Jana V.; Vandenput, Liesbeth; Waite, Lindsay L.; Zhao, Jing Hua; Absher, Devin; Asselbergs, Folkert W.; Atalay, Mustafa; Attwood, Antony P.; Balmforth, Anthony J.; Basart, Hanneke; Beilby, John; Bonnycastle, Lori L.; Brambilla, Paolo; Bruinenberg, Marcel; Campbell, Harry; Chasman, Daniel I.; Chines, Peter S.; Collins, Francis S.; Connell, John M.; Cookson, William; de Faire, Ulf; de Vegt, Femmie; Dei, Mariano; Dimitriou, Maria; Edkins, Sarah; Estrada, Karol; Evans, David M.; Farrall, Martin; Ferrario, Marco M.; Ferrières, Jean; Franke, Lude; Frau, Francesca; Gejman, Pablo V.; Grallert, Harald; Grönberg, Henrik; Gudnason, Vilmundur; Hall, Alistair S.; Hall, Per; Hartikainen, Anna-Liisa; Hayward, Caroline; Heard-Costa, Nancy L.; Heath, Andrew C.; Hebebrand, Johannes; Homuth, Georg; Hu, Frank B.; Hunt, Sarah E.; Hyppönen, Elina; Iribarren, Carlos; Jacobs, Kevin B.; Jansson, John-Olov; Jula, Antti; Kähönen, Mika; Kathiresan, Sekar; Kee, Frank; Khaw, Kay-Tee; Kivimaki, Mika; Koenig, Wolfgang; Kraja, Aldi T.; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Laitinen, Jaana H.; Lakka, Timo A.; Langenberg, Claudia; Launer, Lenore J.; Lind, Lars; Lindström, Jaana; Liu, Jianjun; Liuzzi, Antonio; Lokki, Marja-Liisa; Lorentzon, Mattias; Madden, Pamela A.; Magnusson, Patrik K.; Manunta, Paolo; Marek, Diana; März, Winfried; Leach, Irene Mateo; McKnight, Barbara; Medland, Sarah E.; Mihailov, Evelin; Milani, Lili; Montgomery, Grant W.; Mooser, Vincent; Mühleisen, Thomas W.; Munroe, Patricia B.; Musk, Arthur W.; Narisu, Narisu; Navis, Gerjan; Nicholson, George; Nohr, Ellen A.; Ong, Ken K.; Oostra, Ben A.; Palmer, Colin N.A.; Palotie, Aarno; Peden, John F.; Pedersen, Nancy; Peters, Annette; Polasek, Ozren; Pouta, Anneli; Pramstaller, Peter P.; Prokopenko, Inga; Pütter, Carolin; Radhakrishnan, Aparna; Raitakari, Olli; Rendon, Augusto; Rivadeneira, Fernando; Rudan, Igor; Saaristo, Timo E.; Sambrook, Jennifer G.; Sanders, Alan R.; Sanna, Serena; Saramies, Jouko; Schipf, Sabine; Schreiber, Stefan; Schunkert, Heribert; Shin, So-Youn; Signorini, Stefano; Sinisalo, Juha; Skrobek, Boris; Soranzo, Nicole; Stančáková, Alena; Stark, Klaus; Stephens, Jonathan C.; Stirrups, Kathleen; Stolk, Ronald P.; Stumvoll, Michael; Swift, Amy J.; Theodoraki, Eirini V.; Thorand, Barbara; Tregouet, David-Alexandre; Tremoli, Elena; Van der Klauw, Melanie M.; van Meurs, Joyce B.J.; Vermeulen, Sita H.; Viikari, Jorma; Virtamo, Jarmo; Vitart, Veronique; Waeber, Gérard; Wang, Zhaoming; Widén, Elisabeth; Wild, Sarah H.; Willemsen, Gonneke; Winkelmann, Bernhard R.; Witteman, Jacqueline C.M.; Wolffenbuttel, Bruce H.R.; Wong, Andrew; Wright, Alan F.; Zillikens, M. Carola; Amouyel, Philippe; Boehm, Bernhard O.; Boerwinkle, Eric; Boomsma, Dorret I.; Caulfield, Mark J.; Chanock, Stephen J.; Cupples, L. Adrienne; Cusi, Daniele; Dedoussis, George V.; Erdmann, Jeanette; Eriksson, Johan G.; Franks, Paul W.; Froguel, Philippe; Gieger, Christian; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B.; Hengstenberg, Christian; Hicks, Andrew A.; Hingorani, Aroon; Hinney, Anke; Hofman, Albert; Hovingh, Kees G.; Hveem, Kristian; Illig, Thomas; Jarvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Keinanen-Kiukaanniemi, Sirkka M.; Kiemeney, Lambertus A.; Kuh, Diana; Laakso, Markku; Lehtimäki, Terho; Levinson, Douglas F.; Martin, Nicholas G.; Metspalu, Andres; Morris, Andrew D.; Nieminen, Markku S.; Njølstad, Inger; Ohlsson, Claes; Oldehinkel, Albertine J.; Ouwehand, Willem H.; Palmer, Lyle J.; Penninx, Brenda; Power, Chris; Province, Michael A.; Psaty, Bruce M.; Qi, Lu; Rauramaa, Rainer; Ridker, Paul M.; Ripatti, Samuli; Salomaa, Veikko; Samani, Nilesh J.; Snieder, Harold; Sørensen, Thorkild I.A.; Spector, Timothy D.; Stefansson, Kari; Tönjes, Anke; Tuomilehto, Jaakko; Uitterlinden, André G.; Uusitupa, Matti; van der Harst, Pim; Vollenweider, Peter; Wallaschofski, Henri; Wareham, Nicholas J.; Watkins, Hugh; Wichmann, H.-Erich; Wilson, James F.; Abecasis, Goncalo R.; Assimes, Themistocles L.; Barroso, Inês; Boehnke, Michael; Borecki, Ingrid B.; Deloukas, Panos; Fox, Caroline S.; Frayling, Timothy; Groop, Leif C.; Haritunian, Talin; Heid, Iris M.; Hunter, David; Kaplan, Robert C.; Karpe, Fredrik; Moffatt, Miriam; Mohlke, Karen L.; O’Connell, Jeffrey R.; Pawitan, Yudi; Schadt, Eric E.; Schlessinger, David; Steinthorsdottir, Valgerdur; Strachan, David P.; Thorsteinsdottir, Unnur; van Duijn, Cornelia M.; Visscher, Peter M.; Di Blasio, Anna Maria; Hirschhorn, Joel N.; Lindgren, Cecilia M.; Morris, Andrew P.; Meyre, David; Scherag, André; McCarthy, Mark I.; Speliotes, Elizabeth K.; North, Kari E.; Loos, Ruth J.F.; Ingelsson, Erik; Hirschhorn, Joel; North, Kari E.; Ingelsson, Erik; Lin, Dan-Yu

    2013-01-01

    Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying “causal” rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are performed at the gene level rather than at the variant level poses unprecedented challenges in the meta-analysis. First, different studies may adopt different gene-level tests, so the results are not compatible. Second, gene-level tests require multivariate statistics (i.e., components of the test statistic and their covariance matrix), which are difficult to obtain. To overcome these challenges, we propose to perform gene-level tests for rare variants by combining the results of single-variant analysis (i.e., p values of association tests and effect estimates) from participating studies. This simple strategy is possible because of an insight that multivariate statistics can be recovered from single-variant statistics, together with the correlation matrix of the single-variant test statistics, which can be estimated from one of the participating studies or from a publicly available database. We show both theoretically and numerically that the proposed meta-analysis approach provides accurate control of the type I error and is as powerful as joint analysis of individual participant data. This approach accommodates any disease phenotype and any study design and produces all commonly used gene-level tests. An application to the GWAS summary results of the Genetic Investigation of ANthropometric Traits (GIANT) consortium reveals rare and low-frequency variants associated with human height. The relevant software is freely available. PMID:23891470

  4. Meta-analysis of gene-level associations for rare variants based on single-variant statistics.

    PubMed

    Hu, Yi-Juan; Berndt, Sonja I; Gustafsson, Stefan; Ganna, Andrea; Hirschhorn, Joel; North, Kari E; Ingelsson, Erik; Lin, Dan-Yu

    2013-08-08

    Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are performed at the gene level rather than at the variant level poses unprecedented challenges in the meta-analysis. First, different studies may adopt different gene-level tests, so the results are not compatible. Second, gene-level tests require multivariate statistics (i.e., components of the test statistic and their covariance matrix), which are difficult to obtain. To overcome these challenges, we propose to perform gene-level tests for rare variants by combining the results of single-variant analysis (i.e., p values of association tests and effect estimates) from participating studies. This simple strategy is possible because of an insight that multivariate statistics can be recovered from single-variant statistics, together with the correlation matrix of the single-variant test statistics, which can be estimated from one of the participating studies or from a publicly available database. We show both theoretically and numerically that the proposed meta-analysis approach provides accurate control of the type I error and is as powerful as joint analysis of individual participant data. This approach accommodates any disease phenotype and any study design and produces all commonly used gene-level tests. An application to the GWAS summary results of the Genetic Investigation of ANthropometric Traits (GIANT) consortium reveals rare and low-frequency variants associated with human height. The relevant software is freely available.

  5. Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

    PubMed Central

    Campuzano, Oscar; Sanchez-Molero, Olallo; Mademont-Soler, Irene; Riuró, Helena; Allegue, Catarina; Coll, Monica; Pérez-Serra, Alexandra; Mates, Jesus; Picó, Ferran; Iglesias, Anna; Brugada, Ramon

    2015-01-01

    A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis of genes associated with this entity, including, most recently, titin. We aimed to identify potentially pathogenic genetic variants in titin. A total of 1126 samples were analyzed using a custom sequencing panel including major genes related to sudden cardiac death. Our cohort was divided into three groups: 432 cases from patients with cardiomyopathies, 130 cases from patients with channelopathies, and 564 post-mortem samples from individuals showing anatomical healthy hearts and non-conclusive causes of death after comprehensive autopsy. None of the patients included had definite pathogenic variants in the genes analyzed by our custom cardio-panel. Retrospective analysis comparing the in-house database and available public databases also was performed. We identified 554 rare variants in titin, 282 of which were novel. Seven were previously reported as pathogenic. Of these 554 variants, 493 were missense variants, 233 of which were novel. Of all variants identified, 399 were unique and 155 were identified at least twice. No definite pathogenic variants were identified in any of genes analyzed. We identified rare, mostly novel, titin variants that seem to play a potentially pathogenic role in sudden cardiac death. Additional studies should be performed to clarify the role of these variants in sudden cardiac death. PMID:26516846

  6. Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

    PubMed

    Campuzano, Oscar; Sanchez-Molero, Olallo; Mademont-Soler, Irene; Riuró, Helena; Allegue, Catarina; Coll, Monica; Pérez-Serra, Alexandra; Mates, Jesus; Picó, Ferran; Iglesias, Anna; Brugada, Ramon

    2015-10-27

    A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis of genes associated with this entity, including, most recently, titin. We aimed to identify potentially pathogenic genetic variants in titin. A total of 1126 samples were analyzed using a custom sequencing panel including major genes related to sudden cardiac death. Our cohort was divided into three groups: 432 cases from patients with cardiomyopathies, 130 cases from patients with channelopathies, and 564 post-mortem samples from individuals showing anatomical healthy hearts and non-conclusive causes of death after comprehensive autopsy. None of the patients included had definite pathogenic variants in the genes analyzed by our custom cardio-panel. Retrospective analysis comparing the in-house database and available public databases also was performed. We identified 554 rare variants in titin, 282 of which were novel. Seven were previously reported as pathogenic. Of these 554 variants, 493 were missense variants, 233 of which were novel. Of all variants identified, 399 were unique and 155 were identified at least twice. No definite pathogenic variants were identified in any of genes analyzed. We identified rare, mostly novel, titin variants that seem to play a potentially pathogenic role in sudden cardiac death. Additional studies should be performed to clarify the role of these variants in sudden cardiac death.

  7. The TIGR Plant Transcript Assemblies database.

    PubMed

    Childs, Kevin L; Hamilton, John P; Zhu, Wei; Ly, Eugene; Cheung, Foo; Wu, Hank; Rabinowicz, Pablo D; Town, Chris D; Buell, C Robin; Chan, Agnes P

    2007-01-01

    The TIGR Plant Transcript Assemblies (TA) database (http://plantta.tigr.org) uses expressed sequences collected from the NCBI GenBank Nucleotide database for the construction of transcript assemblies. The sequences collected include expressed sequence tags (ESTs) and full-length and partial cDNAs, but exclude computationally predicted gene sequences. The TA database includes all plant species for which more than 1000 EST or cDNA sequences are publicly available. The EST and cDNA sequences are first clustered based on an all-versus-all pairwise sequence comparison, followed by the generation of consensus sequences (TAs) from individual clusters. The clustering and assembly procedures use the TGICL tool, Megablast and the CAP3 assembler. The UniProt Reference Clusters (UniRef100) protein database is used as the reference database for the functional annotation of the assemblies. The transcription orientation of each TA is determined based on the orientation of the alignment with the best protein hit. The TA sequences and annotation are available via web interfaces and FTP downloads. Assemblies can be retrieved by a text-based keyword search or a sequence-based BLAST search. The current version of the TA database is Release 2 (July 17, 2006) and includes a total of 215 plant species.

  8. Meteor Databases in Astronomy

    NASA Astrophysics Data System (ADS)

    Kolomiyets, Svitlana V.

    2017-06-01

    There are specific problems of databases in meteor science such as making meteor databases into the modern research tools. Special institutes and virtual observatories exist for the meteor data storage where the data is online and in open access. However, there are also numerous databases without the open access, such as for example, three radar databases: Kharkiv database with 250,000 meteor orbits in Ukraine, New Zealand database with 500,000 meteor orbits, and Canadian database with more than 3 million meteor orbits. One of the reasons the open access is absent for these databases could be the complexity in the copyright compliance. In the framework of the creation of the modern effective research tool in the meteor science, we discuss here the case of the Kharkiv meteor database.

  9. Databases in the Area of Pharmacogenetics

    PubMed Central

    Sim, Sarah C.; Altman, Russ B.; Ingelman-Sundberg, Magnus

    2012-01-01

    In the area of pharmacogenetics and personalized health care it is obvious that databases, providing important information of the occurrence and consequences of variant genes encoding drug metabolizing enzymes, drug transporters, drug targets, and other proteins of importance for drug response or toxicity, are of critical value for scientists, physicians, and industry. The primary outcome of the pharmacogenomic field is the identification of biomarkers that can predict drug toxicity and drug response, thereby individualizing and improving drug treatment of patients. The drug in question and the polymorphic gene exerting the impact are the main issues to be searched for in the databases. Here, we review the databases that provide useful information in this respect, of benefit for the development of the pharmacogenomic field. PMID:21309040

  10. The Israeli National Genetic database: a 10-year experience.

    PubMed

    Zlotogora, Joël; Patrinos, George P

    2017-03-16

    The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources. In September 2016, there were 2444 entries in the database, 890 among Jews, 1376 among Israeli Arabs, and 178 entries among Palestinian Arabs, corresponding to an ~4× data content increase compared to when originally launched. While the Israeli Arab population is much smaller than the Jewish population, the number of pathogenic variants causing recessive disorders reported in the database is higher among Arabs (934) than among Jews (648). Nevertheless, the number of pathogenic variants classified as founder mutations in the database is smaller among Arabs (175) than among Jews (192). In 2016, the entire database content was compared to that of other databases such as ClinVar and ExAC. We show that a significant difference in the percentage of pathogenic variants from the Israeli genetic database that were present in ExAC was observed between the Jewish population (31.8%) and the Israeli Arab population (20.6%). The Israeli genetic database was launched in 2006 on the ETHNOS software and is available online ever since. It allows querying the database according to the disorder and the ethnicity; however, many other features are not available, in particular the possibility to search according to the name of the gene. In addition, due to the technical limitations of the previous ETHNOS software, new features and data are not included in the

  11. An incremental database access method for autonomous interoperable databases

    NASA Technical Reports Server (NTRS)

    Roussopoulos, Nicholas; Sellis, Timos

    1994-01-01

    We investigated a number of design and performance issues of interoperable database management systems (DBMS's). The major results of our investigation were obtained in the areas of client-server database architectures for heterogeneous DBMS's, incremental computation models, buffer management techniques, and query optimization. We finished a prototype of an advanced client-server workstation-based DBMS which allows access to multiple heterogeneous commercial DBMS's. Experiments and simulations were then run to compare its performance with the standard client-server architectures. The focus of this research was on adaptive optimization methods of heterogeneous database systems. Adaptive buffer management accounts for the random and object-oriented access methods for which no known characterization of the access patterns exists. Adaptive query optimization means that value distributions and selectives, which play the most significant role in query plan evaluation, are continuously refined to reflect the actual values as opposed to static ones that are computed off-line. Query feedback is a concept that was first introduced to the literature by our group. We employed query feedback for both adaptive buffer management and for computing value distributions and selectivities. For adaptive buffer management, we use the page faults of prior executions to achieve more 'informed' management decisions. For the estimation of the distributions of the selectivities, we use curve-fitting techniques, such as least squares and splines, for regressing on these values.

  12. Conceptual and logical level of database modeling

    NASA Astrophysics Data System (ADS)

    Hunka, Frantisek; Matula, Jiri

    2016-06-01

    Conceptual and logical levels form the top most levels of database modeling. Usually, ORM (Object Role Modeling) and ER diagrams are utilized to capture the corresponding schema. The final aim of business process modeling is to store its results in the form of database solution. For this reason, value oriented business process modeling which utilizes ER diagram to express the modeling entities and relationships between them are used. However, ER diagrams form the logical level of database schema. To extend possibilities of different business process modeling methodologies, the conceptual level of database modeling is needed. The paper deals with the REA value modeling approach to business process modeling using ER-diagrams, and derives conceptual model utilizing ORM modeling approach. Conceptual model extends possibilities for value modeling to other business modeling approaches.

  13. SCOOP Structured Concurrent Object Oriented Prolog

    NASA Astrophysics Data System (ADS)

    Vaucher, Jean; Lapalme, Guy; Malenfant, Jacques

    SCOOP is an experimental language implemented in Prolog that tries to combine the best of logic, object-oriented and concurrent programming in a structured, natural and efficient manner. SCOOP provides hierarchies of object classes. These objects behave as independent Prolog programs with private databases which can execute goals within other objects.

  14. Databases and registers: useful tools for research, no studies.

    PubMed

    Curbelo, Rafael J; Loza, Estíbaliz; de Yébenes, Maria Jesús García; Carmona, Loreto

    2014-04-01

    There are many misunderstandings about databases. Database is a commonly misused term in reference to any set of data entered into a computer. However, true databases serve a main purpose, organising data. They do so by establishing several layers of relationships; databases are hierarchical. Databases commonly organise data over different levels and over time, where time can be measured as the time between visits, or between treatments, or adverse events, etc. In this sense, medical databases are closely related to longitudinal observational studies, as databases allow the introduction of data on the same patient over time. Basically, we could establish four types of databases in medicine, depending on their purpose: (1) administrative databases, (2) clinical databases, (3) registers, and (4) study-oriented databases. But a database is a useful tool for a large variety of studies, not a type of study itself. Different types of databases serve very different purposes, and a clear understanding of the different research designs mentioned in this paper would prevent many of the databases we launch from being just a lot of work and very little science.

  15. Symmetric Euler orientation representations for orientational averaging.

    PubMed

    Mayerhöfer, Thomas G

    2005-09-01

    A new kind of orientation representation called symmetric Euler orientation representation (SEOR) is presented. It is based on a combination of the conventional Euler orientation representations (Euler angles) and Hamilton's quaternions. The properties of the SEORs concerning orientational averaging are explored and compared to those of averaging schemes that are based on conventional Euler orientation representations. To that aim, the reflectance of a hypothetical polycrystalline material with orthorhombic crystal symmetry was calculated. The calculation was carried out according to the average refractive index theory (ARIT [T.G. Mayerhöfer, Appl. Spectrosc. 56 (2002) 1194]). It is shown that the use of averaging schemes based on conventional Euler orientation representations leads to a dependence of the result from the specific Euler orientation representation that was utilized and from the initial position of the crystal. The latter problem can be overcome partly by the introduction of a weighing factor, but only for two-axes-type Euler orientation representations. In case of a numerical evaluation of the average, a residual difference remains also if a two-axes type Euler orientation representation is used despite of the utilization of a weighing factor. In contrast, this problem does not occur if a symmetric Euler orientation representation is used as a matter of principle, while the result of the averaging for both types of orientation representations converges with increasing number of orientations considered in the numerical evaluation. Additionally, the use of a weighing factor and/or non-equally spaced steps in the numerical evaluation of the average is not necessary. The symmetrical Euler orientation representations are therefore ideally suited for the use in orientational averaging procedures.

  16. Group B streptococcal opacity variants.

    PubMed Central

    Pincus, S H; Cole, R L; Wessels, M R; Corwin, M D; Kamanga-Sollo, E; Hayes, S F; Cieplak, W; Swanson, J

    1992-01-01

    Colony opacity variants were detected for type III group B streptococci (GBS). Transparent colonies predominate in the parent GBS, with occasional colonies having opaque portions. Two stable opaque variants (1.1 and 1.5) were compared with three transparent clones (1.2, 1.3, and 1.4). All grew well on blood agar and on GC medium, but variant 1.1 failed to grow on Todd-Hewitt medium. Scanning and transmission electron microscopy demonstrated that colony opacity correlated with bacterial aggregation status, with opaque variants forming longer and more organized chains. Opaque-transparent switches were observed in both directions for most variants, with transparent to opaque noted most frequently, but 1.5 did not switch at all. Switching of the opacity phenotype was observed both in vitro and in neonatal mice. Relationships between colony opacity and several cell surface phenomena were explored. (i) Opaque variant 1.1 had two surface proteins (46 and 75 kDa) that were either unique or greatly overexpressed. (ii) Variant 1.1 was deficient in type III polysaccharide, while 1.5 lacked group B antigen. Diminished capsular polysaccharide of variant 1.1 was reflected in reduced negative electrophoretic mobility and in increased buoyant density. (iii) Transparent variant colonies growing closest to a penicillin disk were opaque, but colonial variants did not differ in their sensitivity to penicillin. These data indicate that GBS can exist in both opaque and transparent forms, with opaque appearance occurring by multiple routes. Opaque variants grow poorly on Todd-Hewitt medium generally used for isolation of GBS, so any possible relationships between opacity variation and pathogenesis of GBS infection are unknown. Images PMID:1592825

  17. Variants of windmill nystagmus.

    PubMed

    Choi, Kwang-Dong; Shin, Hae Kyung; Kim, Ji-Soo; Kim, Sung-Hee; Choi, Jae-Hwan; Kim, Hyo-Jung; Zee, David S

    2016-07-01

    Windmill nystagmus is characterized by a clock-like rotation of the beating direction of a jerk nystagmus suggesting separate horizontal and vertical oscillators, usually 90° out of phase. We report oculographic characteristics in three patients with variants of windmill nystagmus in whom the common denominator was profound visual loss due to retinal diseases. Two patients showed a clock-like pattern, while in the third, the nystagmus was largely diagonal (in phase or 180° out of phase) but also periodically changed direction by 180°. We hypothesize that windmill nystagmus is a unique manifestation of "eye movements of the blind." It emerges when the central structures, including the cerebellum, that normally keep eye movements calibrated and gaze steady can no longer perform their task, because they are deprived of the retinal image motion that signals a need for adaptive recalibration.

  18. CRAVAT: cancer-related analysis of variants toolkit

    PubMed Central

    Douville, Christopher; Carter, Hannah; Kim, Rick; Niknafs, Noushin; Diekhans, Mark; Stenson, Peter D.; Cooper, David N.; Ryan, Michael; Karchin, Rachel

    2013-01-01

    Summary: Advances in sequencing technology have greatly reduced the costs incurred in collecting raw sequencing data. Academic laboratories and researchers therefore now have access to very large datasets of genomic alterations but limited time and computational resources to analyse their potential biological importance. Here, we provide a web-based application, Cancer-Related Analysis of Variants Toolkit, designed with an easy-to-use interface to facilitate the high-throughput assessment and prioritization of genes and missense alterations important for cancer tumorigenesis. Cancer-Related Analysis of Variants Toolkit provides predictive scores for germline variants, somatic mutations and relative gene importance, as well as annotations from published literature and databases. Results are emailed to users as MS Excel spreadsheets and/or tab-separated text files. Availability: http://www.cravat.us/ Contact: karchin@jhu.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:23325621

  19. Common hyperspectral image database design

    NASA Astrophysics Data System (ADS)

    Tian, Lixun; Liao, Ningfang; Chai, Ali

    2009-11-01

    This paper is to introduce Common hyperspectral image database with a demand-oriented Database design method (CHIDB), which comprehensively set ground-based spectra, standardized hyperspectral cube, spectral analysis together to meet some applications. The paper presents an integrated approach to retrieving spectral and spatial patterns from remotely sensed imagery using state-of-the-art data mining and advanced database technologies, some data mining ideas and functions were associated into CHIDB to make it more suitable to serve in agriculture, geological and environmental areas. A broad range of data from multiple regions of the electromagnetic spectrum is supported, including ultraviolet, visible, near-infrared, thermal infrared, and fluorescence. CHIDB is based on dotnet framework and designed by MVC architecture including five main functional modules: Data importer/exporter, Image/spectrum Viewer, Data Processor, Parameter Extractor, and On-line Analyzer. The original data were all stored in SQL server2008 for efficient search, query and update, and some advance Spectral image data Processing technology are used such as Parallel processing in C#; Finally an application case is presented in agricultural disease detecting area.

  20. THE ECOTOX DATABASE

    EPA Science Inventory

    The database provides chemical-specific toxicity information for aquatic life, terrestrial plants, and terrestrial wildlife. ECOTOX is a comprehensive ecotoxicology database and is therefore essential for providing and suppoirting high quality models needed to estimate population...

  1. THE ECOTOX DATABASE

    EPA Science Inventory

    The database provides chemical-specific toxicity information for aquatic life, terrestrial plants, and terrestrial wildlife. ECOTOX is a comprehensive ecotoxicology database and is therefore essential for providing and suppoirting high quality models needed to estimate population...

  2. Physiological Information Database (PID)

    EPA Science Inventory

    EPA has developed a physiological information database (created using Microsoft ACCESS) intended to be used in PBPK modeling. The database contains physiological parameter values for humans from early childhood through senescence as well as similar data for laboratory animal spec...

  3. Physiological Information Database (PID)

    EPA Science Inventory

    EPA has developed a physiological information database (created using Microsoft ACCESS) intended to be used in PBPK modeling. The database contains physiological parameter values for humans from early childhood through senescence as well as similar data for laboratory animal spec...

  4. Household Products Database: Pesticides

    MedlinePlus

    ... Names Types of Products Manufacturers Ingredients About the Database FAQ Product Recalls Help Glossary Contact Us More ... holders. Information is extracted from Consumer Product Information Database ©2001-2016 by DeLima Associates. All rights reserved. ...

  5. The Orientation of Delos Monuments

    NASA Astrophysics Data System (ADS)

    Pantazis, George; Lambrou, Evangelia; Nikolitsas, Konstantinos; Papathanassiou, Maria; Iliodromitis, Athanasios

    Apollo's sacred island, Delos, is an extended archaeological site, which contains important monuments dating from prehistoric to Hellenistic times. In this article the orientation of some of the most significant monuments of the site are studied. Each monument has been measured by means of modern accurate geodetic and astrogeodetic methods and instrumentation so that its plan, its main (longitudinal) axis, the profile of the perceptible horizon as seen from the monument and the astronomical azimuth of the main axis are determined. Special attention and study have been reserved to the Cave of Kynthos (Andron), as the latter was considered as an ancient observatory. This study attempts also a possible dating of the measured monuments based on their orientation and its relation to special celestial bodies. All data deduced by measurements and calculations, as well as historical information have been used for the creation of a database in Macromedia software.

  6. A Universal Object-Oriented Medical Database System

    DTIC Science & Technology

    2007-11-02

    synchronization (IrDA, e-mail); c. Authentication and data protection tools (Unified Windows smart cards interface is used). The detailed system...authentication. Standard Windows smart card authentication procedure is used to achieve top level of security. III. CONCLUSION Implementation of

  7. Object-Oriented Approach to Integrating Database Semantics. Volume 4.

    DTIC Science & Technology

    1987-12-01

    UNIVERSITY P. UNIVERSITY PEOPL THINGS EMPLYEE STUDENTSLASE ’i i STAFF FCU -a aILTI ;: TAS FE M-.. %" 𔄁 Figure 20: The UNIVERSITY Object Model a’.M.a0 ,!,I...Artificial Intelligence seemed to go by non -intersecting paths as well as motivated by completely different interests. Today however, many areas are being

  8. Aviation Safety Issues Database

    NASA Technical Reports Server (NTRS)

    Morello, Samuel A.; Ricks, Wendell R.

    2009-01-01

    The aviation safety issues database was instrumental in the refinement and substantiation of the National Aviation Safety Strategic Plan (NASSP). The issues database is a comprehensive set of issues from an extremely broad base of aviation functions, personnel, and vehicle categories, both nationally and internationally. Several aviation safety stakeholders such as the Commercial Aviation Safety Team (CAST) have already used the database. This broader interest was the genesis to making the database publically accessible and writing this report.

  9. Scopus database: a review.

    PubMed

    Burnham, Judy F

    2006-03-08

    The Scopus database provides access to STM journal articles and the references included in those articles, allowing the searcher to search both forward and backward in time. The database can be used for collection development as well as for research. This review provides information on the key points of the database and compares it to Web of Science. Neither database is inclusive, but complements each other. If a library can only afford one, choice must be based in institutional needs.

  10. Scopus database: a review

    PubMed Central

    Burnham, Judy F

    2006-01-01

    The Scopus database provides access to STM journal articles and the references included in those articles, allowing the searcher to search both forward and backward in time. The database can be used for collection development as well as for research. This review provides information on the key points of the database and compares it to Web of Science. Neither database is inclusive, but complements each other. If a library can only afford one, choice must be based in institutional needs. PMID:16522216

  11. A Database Practicum for Teaching Database Administration and Software Development at Regis University

    ERIC Educational Resources Information Center

    Mason, Robert T.

    2013-01-01

    This research paper compares a database practicum at the Regis University College for Professional Studies (CPS) with technology oriented practicums at other universities. Successful andragogy for technology courses can motivate students to develop a genuine interest in the subject, share their knowledge with peers and can inspire students to…

  12. A Database Practicum for Teaching Database Administration and Software Development at Regis University

    ERIC Educational Resources Information Center

    Mason, Robert T.

    2013-01-01

    This research paper compares a database practicum at the Regis University College for Professional Studies (CPS) with technology oriented practicums at other universities. Successful andragogy for technology courses can motivate students to develop a genuine interest in the subject, share their knowledge with peers and can inspire students to…

  13. Mission and Assets Database

    NASA Technical Reports Server (NTRS)

    Baldwin, John; Zendejas, Silvino; Gutheinz, Sandy; Borden, Chester; Wang, Yeou-Fang

    2009-01-01

    Mission and Assets Database (MADB) Version 1.0 is an SQL database system with a Web user interface to centralize information. The database stores flight project support resource requirements, view periods, antenna information, schedule, and forecast results for use in mid-range and long-term planning of Deep Space Network (DSN) assets.

  14. JICST Factual Database

    NASA Astrophysics Data System (ADS)

    Hayase, Shuichi; Okano, Keiko

    Japan Information Center of Science and Technology (JICST) has started the on-line service of JICST Crystal Structure Database (JICST CR) in this January (1990). This database provides the information of atomic positions in a crystal and related informations of the crystal. The database system and the crystal data in JICST CR are outlined in this manuscript.

  15. Election 2016: Voting on Variants.

    PubMed

    Cho, Raymond J; Collisson, Eric A

    2016-07-01

    Genome sequencing studies increasingly identify variants of unknown significance in provocative genes. Kim and colleagues present a system with which to functionally annotate such variants in a high-throughput, biologically relevant series of assays. Cancer Discov; 6(7); 694-6. ©2016 AACRSee related article by Kim et al., p. 714.

  16. A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

    PubMed

    Laros, Jeroen F J; Blavier, André; den Dunnen, Johan T; Taschner, Peter E M

    2011-01-01

    The use of a standard human sequence variant nomenclature is advocated by the Human Genome Variation Society in order to unambiguously describe genetic variants in databases and literature. There is a clear need for tools that allow the mining of data about human sequence variants and their functional consequences from databases and literature. Existing text mining focuses on the recognition of protein variants and their effects. The recognition of variants at the DNA and RNA levels is essential for dissemination of variant data for diagnostic purposes. Development of new tools is hampered by the complexity of the current nomenclature, which requires processing at the character level to recognize the specific syntactic constructs used in variant descriptions. We approached the gene variant nomenclature as a scientific sublanguage and created two formal descriptions of the syntax in Extended Backus-Naur Form: one at the DNA-RNA level and one at the protein level. To ensure compatibility to older versions of the human sequence variant nomenclature, previously recommended variant description formats have been included. The first grammar versions were designed to help build variant description handling in the Alamut mutation interpretation software. The DNA and RNA level descriptions were then updated and used to construct the context-free parser of the Mutalyzer 2 sequence variant nomenclature checker, which has already been used to check more than one million variant descriptions. The Extended Backus-Naur Form provided an overview of the full complexity of the syntax of the sequence variant nomenclature, which remained hidden in the textual format and the division of the recommendations across the DNA, RNA and protein sections of the Human Genome Variation Society nomenclature website (http://www.hgvs.org/mutnomen/). This insight into the syntax of the nomenclature could be used to design detailed and clear rules for software development. The Mutalyzer 2 parser

  17. ASTD: The Alternative Splicing and Transcript Diversity database.

    PubMed

    Koscielny, Gautier; Le Texier, Vincent; Gopalakrishnan, Chellappa; Kumanduri, Vasudev; Riethoven, Jean-Jack; Nardone, Francesco; Stanley, Eleanor; Fallsehr, Christine; Hofmann, Oliver; Kull, Meelis; Harrington, Eoghan; Boué, Stéphanie; Eyras, Eduardo; Plass, Mireya; Lopez, Fabrice; Ritchie, William; Moucadel, Virginie; Ara, Takeshi; Pospisil, Heike; Herrmann, Alexander; G Reich, Jens; Guigó, Roderic; Bork, Peer; Doeberitz, Magnus von Knebel; Vilo, Jaak; Hide, Winston; Apweiler, Rolf; Thanaraj, Thangavel Alphonse; Gautheret, Daniel

    2009-03-01

    The Alternative Splicing and Transcript Diversity database (ASTD) gives access to a vast collection of alternative transcripts that integrate transcription initiation, polyadenylation and splicing variant data. Alternative transcripts are derived from the mapping of transcribed sequences to the complete human, mouse and rat genomes using an extension of the computational pipeline developed for the ASD (Alternative Splicing Database) and ATD (Alternative Transcript Diversity) databases, which are now superseded by ASTD. For the human genome, ASTD identifies splicing variants, transcription initiation variants and polyadenylation variants in 68%, 68% and 62% of the gene set, respectively, consistent with current estimates for transcription variation. Users can access ASTD through a variety of browsing and query tools, including expression state-based queries for the identification of tissue-specific isoforms. Participating laboratories have experimentally validated a subset of ASTD-predicted alternative splice forms and alternative polyadenylation forms that were not previously reported. The ASTD database can be accessed at http://www.ebi.ac.uk/astd.

  18. Thinking in Orienteering.

    ERIC Educational Resources Information Center

    Johansen, Bjorn Tore

    1997-01-01

    A think-aloud technique, in which 20 orienteers verbalized their exact thoughts during orienteering, was used to examine the phenomenon of cognition during orienteering. Results indicate that orienteering is experienced as a task to be accomplished, a physical movement, and a dynamic process, and that thinking involves attuning perceptions to…

  19. The Mars Express limbs observations database

    NASA Astrophysics Data System (ADS)

    Gondet, Brigitte; Bibring, Jean-Pierre; Montmessin, Franck; Giuranna, Marco; Hoffmann, Harald; Cardesin, Alejandro

    2015-04-01

    The capability to orient Mars Express allows a great diversity of observations modes, in particular nadir and limb. During day and night limb's observations, 4 out of 7 MEX instruments (the spectrometers: SPICAM, OMEGA, PFS and the high-resolution camera HRSC) work together to provide spectra (.12 µm to 45 µm) of the Martian atmosphere, at each altitude step, with the associated image. We will present the limbs database of more than 10 years in orbit with striking results (dust and clouds detached layers, day and night emissions). The database is now accessible to the scientific community via the ESA/PSA website (www.rssd.esa.int/PSA).

  20. Saada: A Generator of Astronomical Database

    NASA Astrophysics Data System (ADS)

    Michel, L.

    2011-11-01

    Saada transforms a set of heterogeneous FITS files or VOtables of various categories (images, tables, spectra, etc.) in a powerful database deployed on the Web. Databases are located on your host and stay independent of any external server. This job doesn’t require writing code. Saada can mix data of various categories in multiple collections. Data collections can be linked each to others making relevant browsing paths and allowing data-mining oriented queries. Saada supports 4 VO services (Spectra, images, sources and TAP) . Data collections can be published immediately after the deployment of the Web interface.

  1. The NCBI Taxonomy database.

    PubMed

    Federhen, Scott

    2012-01-01

    The NCBI Taxonomy database (http://www.ncbi.nlm.nih.gov/taxonomy) is the standard nomenclature and classification repository for the International Nucleotide Sequence Database Collaboration (INSDC), comprising the GenBank, ENA (EMBL) and DDBJ databases. It includes organism names and taxonomic lineages for each of the sequences represented in the INSDC's nucleotide and protein sequence databases. The taxonomy database is manually curated by a small group of scientists at the NCBI who use the current taxonomic literature to maintain a phylogenetic taxonomy for the source organisms represented in the sequence databases. The taxonomy database is a central organizing hub for many of the resources at the NCBI, and provides a means for clustering elements within other domains of NCBI web site, for internal linking between domains of the Entrez system and for linking out to taxon-specific external resources on the web. Our primary purpose is to index the domain of sequences as conveniently as possible for our user community.

  2. Variant terminology. [for aerospace information systems

    NASA Technical Reports Server (NTRS)

    Buchan, Ronald L.

    1991-01-01

    A system called Variant Terminology Switching (VTS) is set forth that is intended to provide computer-assisted spellings for terms that have American and British versions. VTS is based on the use of brackets, parentheses, and other symbols in conjunction with letters that distinguish American and British spellings. The symbols are used in the systems as indicators of actions such as deleting, adding, and replacing letters as well as replacing entire words and concepts. The system is shown to be useful for the intended purpose and also for the recognition of misspellings and for the standardization of computerized input/output. The VTS system is of interest to the development of international retrieval systems for aerospace and other technical databases that enhance the use by the global scientific community.

  3. Variant terminology. [for aerospace information systems

    NASA Technical Reports Server (NTRS)

    Buchan, Ronald L.

    1991-01-01

    A system called Variant Terminology Switching (VTS) is set forth that is intended to provide computer-assisted spellings for terms that have American and British versions. VTS is based on the use of brackets, parentheses, and other symbols in conjunction with letters that distinguish American and British spellings. The symbols are used in the systems as indicators of actions such as deleting, adding, and replacing letters as well as replacing entire words and concepts. The system is shown to be useful for the intended purpose and also for the recognition of misspellings and for the standardization of computerized input/output. The VTS system is of interest to the development of international retrieval systems for aerospace and other technical databases that enhance the use by the global scientific community.

  4. IDPredictor: predict database links in biomedical database.

    PubMed

    Mehlhorn, Hendrik; Lange, Matthias; Scholz, Uwe; Schreiber, Falk

    2012-06-26

    Knowledge found in biomedical databases, in particular in Web information systems, is a major bioinformatics resource. In general, this biological knowledge is worldwide represented in a network of databases. These data is spread among thousands of databases, which overlap in content, but differ substantially with respect to content detail, interface, formats and data structure. To support a functional annotation of lab data, such as protein sequences, metabolites or DNA sequences as well as a semi-automated data exploration in information retrieval environments, an integrated view to databases is essential. Search engines have the potential of assisting in data retrieval from these structured sources, but fall short of providing a comprehensive knowledge except out of the interlinked databases. A prerequisite of supporting the concept of an integrated data view is to acquire insights into cross-references among database entities. This issue is being hampered by the fact, that only a fraction of all possible cross-references are explicitely tagged in the particular biomedical informations systems. In this work, we investigate to what extend an automated construction of an integrated data network is possible. We propose a method that predicts and extracts cross-references from multiple life science databases and possible referenced data targets. We study the retrieval quality of our method and report on first, promising results. The method is implemented as the tool IDPredictor, which is published under the DOI 10.5447/IPK/2012/4 and is freely available using the URL: http://dx.doi.org/10.5447/IPK/2012/4.

  5. Variant (Swine Origin) Influenza Viruses in Humans

    MedlinePlus

    ... Types Seasonal Avian Swine Variant Other Variant Influenza Viruses: Background and CDC Risk Assessment and Reporting Language: ... Background CDC Assessment Reporting Background On Variant Influenza Viruses Swine flu viruses do not normally infect humans. ...

  6. Cellobiohydrolase variants and polynucleotides encoding same

    DOEpatents

    Wogulis, Mark

    2013-09-24

    The present invention relates to variants of a parent cellobiohydrolase II. The present invention also relates to polynucleotides encoding the variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the variants.

  7. Cellobiohydrolase variants and polynucleotides encoding same

    DOEpatents

    Wogulis, Mark

    2014-10-14

    The present invention relates to variants of a parent cellobiohydrolase II. The present invention also relates to polynucleotides encoding the variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the variants.

  8. Cellobiohydrolase variants and polynucleotides encoding the same

    DOEpatents

    Wogulis, Mark

    2014-09-09

    The present invention relates to variants of a parent cellobiohydrolase. The present invention also relates to polynucleotides encoding the cellobiohydrolase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the cellobiohydrolase variants.

  9. ADAM: another database of abbreviations in MEDLINE.

    PubMed

    Zhou, Wei; Torvik, Vetle I; Smalheiser, Neil R

    2006-11-15

    Abbreviations are an important type of terminology in the biomedical domain. Although several groups have already created databases of biomedical abbreviations, these are either not public, or are not comprehensive, or focus exclusively on acronym-type abbreviations. We have created another abbreviation database, ADAM, which covers commonly used abbreviations and their definitions (or long-forms) within MEDLINE titles and abstracts, including both acronym and non-acronym abbreviations. A model of recognizing abbreviations and their long-forms from titles and abstracts of MEDLINE (2006 baseline) was employed. After grouping morphological variants, 59 405 abbreviation/long-form pairs were identified. ADAM shows high precision (97.4%) and includes most of the frequently used abbreviations contained in the Unified Medical Language System (UMLS) Lexicon and the Stanford Abbreviation Database. Conversely, one-third of abbreviations in ADAM are novel insofar as they are not included in either database. About 19% of the novel abbreviations are non-acronym-type and these cover at least seven different types of short-form/long-form pairs. A free, public query interface to ADAM is available at http://arrowsmith.psych.uic.edu, and the entire database can be downloaded as a text file.

  10. Heteromorphic variants of chromosome 9

    PubMed Central

    2013-01-01

    Background Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers. Results In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes. Conclusions Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants. PMID:23547710

  11. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

    PubMed Central

    Chan, Anne Yin-Yan; Au, Wing Chi; Shen, Yun; Chan, Ting Fung

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14. Subsequent whole-genome sequencing revealed that the patients are compound heterozygous for variants in the SPG11 gene, including the paternally inherited c.6856C>T (p.Arg2286*) variant and the novel maternally inherited c.2316+5G>A splice-donor region variant. Variants in SPG11 are the common cause of autosomal recessive spastic paraplegia type 11. According to the ClinVar database, there are already 101 reported pathogenic variants in SPG11 that are associated with HSPs. To our knowledge, this is the first report of SPG11 variants in our local population. The novel splice variant identified in this study enriches the catalog of SPG11 variants, potentially leading to better genetic diagnosis of HSPs. PMID:27900367

  12. An Introduction to Database Structure and Database Machines.

    ERIC Educational Resources Information Center

    Detweiler, Karen

    1984-01-01

    Enumerates principal management objectives of database management systems (data independence, quality, security, multiuser access, central control) and criteria for comparison (response time, size, flexibility, other features). Conventional database management systems, relational databases, and database machines used for backend processing are…

  13. Variants of beta-glucosidase

    DOEpatents

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2009-12-29

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  14. Variants of beta-glucosidase

    SciTech Connect

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2015-07-14

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  15. Variants of beta-glucosidases

    SciTech Connect

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2014-10-07

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  16. Variants of beta-glucosidases

    DOEpatents

    Fidantsef, Ana; Lamsa, Michael; Clancy, Brian Gorre

    2008-08-19

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  17. Identifying Mendelian disease genes with the Variant Effect Scoring Tool

    PubMed Central

    2013-01-01

    Background Whole exome sequencing studies identify hundreds to thousands of rare protein coding variants of ambiguous significance for human health. Computational tools are needed to accelerate the identification of specific variants and genes that contribute to human disease. Results We have developed the Variant Effect Scoring Tool (VEST), a supervised machine learning-based classifier, to prioritize rare missense variants with likely involvement in human disease. The VEST classifier training set comprised ~ 45,000 disease mutations from the latest Human Gene Mutation Database release and another ~45,000 high frequency (allele frequency >1%) putatively neutral missense variants from the Exome Sequencing Project. VEST outperforms some of the most popular methods for prioritizing missense variants in carefully designed holdout benchmarking experiments (VEST ROC AUC = 0.91, PolyPhen2 ROC AUC = 0.86, SIFT4.0 ROC AUC = 0.84). VEST estimates variant score p-values against a null distribution of VEST scores for neutral variants not included in the VEST training set. These p-values can be aggregated at the gene level across multiple disease exomes to rank genes for probable disease involvement. We tested the ability of an aggregate VEST gene score to identify candidate Mendelian disease genes, based on whole-exome sequencing of a small number of disease cases. We used whole-exome data for two Mendelian disorders for which the causal gene is known. Considering only genes that contained variants in all cases, the VEST gene score ranked dihydroorotate dehydrogenase (DHODH) number 2 of 2253 genes in four cases of Miller syndrome, and myosin-3 (MYH3) number 2 of 2313 genes in three cases of Freeman Sheldon syndrome. Conclusions Our results demonstrate the potential power gain of aggregating bioinformatics variant scores into gene-level scores and the general utility of bioinformatics in assisting the search for disease genes in large-scale exome sequencing studies. VEST is

  18. The Clock Is Ticking: Library Orientation as Puzzle Room

    ERIC Educational Resources Information Center

    Reade, Tripp

    2017-01-01

    Tripp Reade is the school librarian at Cardinal Gibbons High School in Raleigh, North Carolina. This article describes how he redesigned his school's library orientation program after learning about escape rooms and a variant known as puzzle rooms. Puzzle rooms present players with a set of challenges to solve; they require "teamwork,…

  19. Discontinuous space variant sub-wavelength structures for generating radially polarized light in visible region

    NASA Astrophysics Data System (ADS)

    Ghadyani, Z.; Dmitriev, S.; Lindlein, N.; Leuchs, G.; Rusina, O.; Harder, I.

    2011-08-01

    A discontinuous space variant sub-wavelength dielectric grating is designed and fabricated for generating radially polarized light in visible region (l = 632.8 nm). The design is based on sub-wavelength silicon nitride structures introducing a retardation of p/2 by form birefringence, with space variant orientation of the optical axis. The pattern is divided into concentric ring segments with constant structural parameters, therefore reducing electron-beam writing time significantly. The design avoids the technological challenges encountered in the generation of a continuous space variant grating while maintaining good quality of the resulting polarization mode.

  20. KvDB; mining and mapping sequence variants in voltage-gated potassium channels.

    PubMed

    Stead, Lucy F; Wood, Ian C; Westhead, David R

    2010-08-01

    We have created KvDB: a voltage-gated potassium (Kv) channel-specific database that houses natural and experimental variant data and includes highly curated multiple sequence alignments and additional analytical tools, such as structural variant mapping and transmembrane segment prediction. KvDB is available at www.bioinformatics.leeds.ac.uk/KvDB. Analyzing the characterized gene variants in terms of topological location revealed the following. The S4, S4-S5, S5, S5-S6, and S6 segments are most likely to house disease-causing variants. Neurological disorders are more likely to be caused by variants affecting voltage sensing, whereas cardiac disorders are more likely to be caused by variants in the pore. Long QT Syndrome 2 (LQT2) is more often caused by N-terminus variation, a region containing a domain that affects deactivation, suggesting a potential disease mechanism. Conversely, a higher proportion of LQT1-causing variants reside in S4-S5, suggesting communication of voltage-sensing to the pore as a disease mechanism. By structurally mapping functionally characterized variants, we also provide mechanistic insight into Kv channel function; identifying an intersubunit interaction that may be partly responsible for setting activation voltage. Investigating phenotypically characterized variants that map to the same position as functionally characterized ones indicates only weak association between locations that cause disease and those that alter electrophysiological properties.

  1. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

    PubMed Central

    Di Fruscio, Giuseppina; Garofalo, Arcomaria; Mutarelli, Margherita; Savarese, Marco; Nigro, Vincenzo

    2016-01-01

    Hundreds of variants in autosomal genes associated with the limb girdle muscular dystrophies (LGMDs) have been reported as being causative. However, in most cases the proof of pathogenicity derives from their non-occurrence in hundreds of healthy controls and/or from segregation studies in small families. The limited statistics of the genetic variations in the general population may hamper a correct interpretation of the effect of variants on the protein. To clarify the meaning of low-frequency variants in LGMD genes, we have selected all variants described as causative in the Leiden Open Variation Database and the Human Gene Mutation Database. We have systematically searched for their frequency in the NHLBI GO Exome Sequencing Project (ESP) and in our internal database. Surprisingly, the ESP contains about 4% of the variants previously associated with a dominant inheritance and about 9% of those associated with a recessive inheritance. The putative disease alleles are much more frequent than those estimated considering the disease prevalence. In conclusion, we hypothesize that a number of disease-associated variants are non-pathogenic and that other variations are not fully penetrant, even if they affect the protein function, suggesting a more complex genetic mechanisms for such heterogeneous disorders. PMID:25898921

  2. ITS-90 Thermocouple Database

    National Institute of Standards and Technology Data Gateway

    SRD 60 NIST ITS-90 Thermocouple Database (Web, free access)   Web version of Standard Reference Database 60 and NIST Monograph 175. The database gives temperature -- electromotive force (emf) reference functions and tables for the letter-designated thermocouple types B, E, J, K, N, R, S and T. These reference functions have been adopted as standards by the American Society for Testing and Materials (ASTM) and the International Electrotechnical Commission (IEC).

  3. IPSec Database Query Acceleration

    NASA Astrophysics Data System (ADS)

    Ferrante, Alberto; Chandra, Satish; Piuri, Vincenzo

    IPSec is a suite of protocols that adds security to communications at the IP level. Protocols within IPSec make extensive use of two databases, namely the Security Policy Database (SPD) and the Security Association Database (SAD). The ability to query the SPD quickly is fundamental as this operation needs to be done for each incoming or outgoing IP packet, even if no IPSec processing needs to be applied on it. This may easily result in millions of query per second in gigabit networks.

  4. 2010 Worldwide Gasification Database

    DOE Data Explorer

    The 2010 Worldwide Gasification Database describes the current world gasification industry and identifies near-term planned capacity additions. The database lists gasification projects and includes information (e.g., plant location, number and type of gasifiers, syngas capacity, feedstock, and products). The database reveals that the worldwide gasification capacity has continued to grow for the past several decades and is now at 70,817 megawatts thermal (MWth) of syngas output at 144 operating plants with a total of 412 gasifiers.

  5. Veterans Administration Databases

    Cancer.gov

    The Veterans Administration Information Resource Center provides database and informatics experts, customer service, expert advice, information products, and web technology to VA researchers and others.

  6. Databases for Microbiologists

    PubMed Central

    2015-01-01

    Databases play an increasingly important role in biology. They archive, store, maintain, and share information on genes, genomes, expression data, protein sequences and structures, metabolites and reactions, interactions, and pathways. All these data are critically important to microbiologists. Furthermore, microbiology has its own databases that deal with model microorganisms, microbial diversity, physiology, and pathogenesis. Thousands of biological databases are currently available, and it becomes increasingly difficult to keep up with their development. The purpose of this minireview is to provide a brief survey of current databases that are of interest to microbiologists. PMID:26013493

  7. Databases for LDEF results

    NASA Technical Reports Server (NTRS)

    Bohnhoff-Hlavacek, Gail

    1992-01-01

    One of the objectives of the team supporting the LDEF Systems and Materials Special Investigative Groups is to develop databases of experimental findings. These databases identify the hardware flown, summarize results and conclusions, and provide a system for acknowledging investigators, tracing sources of data, and future design suggestions. To date, databases covering the optical experiments, and thermal control materials (chromic acid anodized aluminum, silverized Teflon blankets, and paints) have been developed at Boeing. We used the Filemaker Pro software, the database manager for the Macintosh computer produced by the Claris Corporation. It is a flat, text-retrievable database that provides access to the data via an intuitive user interface, without tedious programming. Though this software is available only for the Macintosh computer at this time, copies of the databases can be saved to a format that is readable on a personal computer as well. Further, the data can be exported to more powerful relational databases, capabilities, and use of the LDEF databases and describe how to get copies of the database for your own research.

  8. Mugshot Identification Database (MID)

    National Institute of Standards and Technology Data Gateway

    NIST Mugshot Identification Database (MID) (PC database for purchase)   NIST Special Database 18 is being distributed for use in development and testing of automated mugshot identification systems. The database consists of three CD-ROMs, containing a total of 3248 images of variable size using lossless compression. A newer version of the compression/decompression software on the CDROM can be found at the website http://www.nist.gov/itl/iad/ig/nigos.cfm as part of the NBIS package.

  9. Databases for Microbiologists

    SciTech Connect

    Zhulin, Igor B.

    2015-05-26

    Databases play an increasingly important role in biology. They archive, store, maintain, and share information on genes, genomes, expression data, protein sequences and structures, metabolites and reactions, interactions, and pathways. All these data are critically important to microbiologists. Furthermore, microbiology has its own databases that deal with model microorganisms, microbial diversity, physiology, and pathogenesis. Thousands of biological databases are currently available, and it becomes increasingly difficult to keep up with their development. Finally, the purpose of this minireview is to provide a brief survey of current databases that are of interest to microbiologists.

  10. HIV Sequence Databases

    PubMed Central

    Kuiken, Carla; Korber, Bette; Shafer, Robert W.

    2008-01-01

    Two important databases are often used in HIV genetic research, the HIV Sequence Database in Los Alamos, which collects all sequences and focuses on annotation and data analysis, and the HIV RT/Protease Sequence Database in Stanford, which collects sequences associated with the development of viral resistance against anti-retroviral drugs and focuses on analysis of those sequences. The types of data and services these two databases offer, the tools they provide, and the way they are set up and operated are described in detail. PMID:12875108

  11. Producing approximate answers to database queries

    NASA Technical Reports Server (NTRS)

    Vrbsky, Susan V.; Liu, Jane W. S.

    1993-01-01

    We have designed and implemented a query processor, called APPROXIMATE, that makes approximate answers available if part of the database is unavailable or if there is not enough time to produce an exact answer. The accuracy of the approximate answers produced improves monotonically with the amount of data retrieved to produce the result. The exact answer is produced if all of the needed data are available and query processing is allowed to continue until completion. The monotone query processing algorithm of APPROXIMATE works within the standard relational algebra framework and can be implemented on a relational database system with little change to the relational architecture. We describe here the approximation semantics of APPROXIMATE that serves as the basis for meaningful approximations of both set-valued and single-valued queries. We show how APPROXIMATE is implemented to make effective use of semantic information, provided by an object-oriented view of the database, and describe the additional overhead required by APPROXIMATE.

  12. SDS, a structural disruption score for assessment of missense variant deleteriousness

    PubMed Central

    Preeprem, Thanawadee; Gibson, Greg

    2014-01-01

    We have developed a novel structure-based evaluation for missense variants that explicitly models protein structure and amino acid properties to predict the likelihood that a variant disrupts protein function. A structural disruption score (SDS) is introduced as a measure to depict the likelihood that a case variant is functional. The score is constructed using characteristics that distinguish between causal and neutral variants within a group of proteins. The SDS score is correlated with standard sequence-based deleteriousness, but shows promise for improving discrimination between neutral and causal variants at less conserved sites. The prediction was performed on 3-dimentional structures of 57 gene products whose homozygous SNPs were identified as case-exclusive variants in an exome sequencing study of epilepsy disorders. We contrasted the candidate epilepsy variants with scores for likely benign variants found in the EVS database, and for positive control variants in the same genes that are suspected to promote a range of diseases. To derive a characteristic profile of damaging SNPs, we transformed continuous scores into categorical variables based on the score distribution of each measurement, collected from all possible SNPs in this protein set, where extreme measures were assumed to be deleterious. A second epilepsy dataset was used to replicate the findings. Causal variants tend to receive higher sequence-based deleterious scores, induce larger physico-chemical changes between amino acid pairs, locate in protein domains, buried sites or on conserved protein surface clusters, and cause protein destabilization, relative to negative controls. These measures were agglomerated for each variant. A list of nine high-priority putative functional variants for epilepsy was generated. Our newly developed SDS protocol facilitates SNP prioritization for experimental validation. PMID:24795746

  13. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

    PubMed

    Acedo, Alberto; Sanz, David J; Durán, Mercedes; Infante, Mar; Pérez-Cabornero, Lucía; Miner, Cristina; Velasco, Eladio A

    2012-05-25

    The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. We aimed to investigate the effect on splicing of the BRCA2 variants c.8488-1G > A (exon 20) and c.9026_9030del (exon 23), as well as 41 BRCA2 variants reported in the Breast Cancer Information Core (BIC) mutation database. DNA variants were analyzed with the splicing prediction programs NNSPLICE and Human Splicing Finder. Functional analyses of candidate variants were performed by lymphocyte RT-PCR and/or hybrid minigene assays. Forty-one BIC variants of exons 19, 20, 23 and 24 were bioinformatically selected and generated by PCR-mutagenesis of the wild type minigenes. Lymphocyte RT-PCR of c.8488-1G > A showed intron 19 retention and a 12-nucleotide deletion in exon 20, whereas c.9026_9030del did not show any splicing anomaly. Minigene analysis of c.8488-1G > A displayed the aforementioned aberrant isoforms but also exon 20 skipping. We further evaluated the splicing outcomes of 41 variants of four BRCA2 exons by minigene analysis. Eighteen variants presented splicing aberrations. Most variants (78.9%) disrupted the natural splice sites, whereas four altered putative enhancers/silencers and had a weak effect. Fluorescent RT-PCR of minigenes accurately detected 14 RNA isoforms generated by cryptic site usage, exon skipping and intron retention events. Fourteen variants showed total splicing disruptions and were predicted to truncate or eliminate essential domains of BRCA2. A relevant proportion of BRCA2 variants are correlated with splicing disruptions, indicating that RNA analysis is a valuable tool to assess the pathogenicity of a particular DNA change. The minigene system is a straightforward and robust approach to detect variants with an impact on splicing and contributes to a better knowledge of this gene expression step.

  14. They Call it Orienteering

    ERIC Educational Resources Information Center

    Wexler, Mark

    1977-01-01

    Through the use of personal anecdotes, the author details his initial experience with orienteering, a sport rapidly increasing in popularity that teaches people not to get lost in the woods. Sources of information about orienteering are provided. (BT)

  15. fMRI orientation decoding in V1 does not require global maps or globally coherent orientation stimuli.

    PubMed

    Alink, Arjen; Krugliak, Alexandra; Walther, Alexander; Kriegeskorte, Nikolaus

    2013-01-01

    The orientation of a large grating can be decoded from V1 functional magnetic resonance imaging (fMRI) data, even at low resolution (3-mm isotropic voxels). This finding has suggested that columnar-level neuronal information might be accessible to fMRI at 3T. However, orientation decodability might alternatively arise from global orientation-preference maps. Such global maps across V1 could result from bottom-up processing, if the preferences of V1 neurons were biased toward particular orientations (e.g., radial from fixation, or cardinal, i.e., vertical or horizontal). Global maps could also arise from local recurrent or top-down processing, reflecting pre-attentive perceptual grouping, attention spreading, or predictive coding of global form. Here we investigate whether fMRI orientation decoding with 2-mm voxels requires (a) globally coherent orientation stimuli and/or (b) global-scale patterns of V1 activity. We used opposite-orientation gratings (balanced about the cardinal orientations) and spirals (balanced about the radial orientation), along with novel patch-swapped variants of these stimuli. The two stimuli of a patch-swapped pair have opposite orientations everywhere (like their globally coherent parent stimuli). However, the two stimuli appear globally similar, a patchwork of opposite orientations. We find that all stimulus pairs are robustly decodable, demonstrating that fMRI orientation decoding does not require globally coherent orientation stimuli. Furthermore, decoding remained robust after spatial high-pass filtering for all stimuli, showing that fine-grained components of the fMRI patterns reflect visual orientations. Consistent with previous studies, we found evidence for global radial and vertical preference maps in V1. However, these were weak or absent for patch-swapped stimuli, suggesting that global preference maps depend on globally coherent orientations and might arise through recurrent or top-down processes related to the perception of

  16. Dictionary as Database.

    ERIC Educational Resources Information Center

    Painter, Derrick

    1996-01-01

    Discussion of dictionaries as databases focuses on the digitizing of The Oxford English dictionary (OED) and the use of Standard Generalized Mark-Up Language (SGML). Topics include the creation of a consortium to digitize the OED, document structure, relational databases, text forms, sequence, and discourse. (LRW)

  17. BioImaging Database

    SciTech Connect

    David Nix, Lisa Simirenko

    2006-10-25

    The Biolmaging Database (BID) is a relational database developed to store the data and meta-data for the 3D gene expression in early Drosophila embryo development on a cellular level. The schema was written to be used with the MySQL DBMS but with minor modifications can be used on any SQL compliant relational DBMS.

  18. Ionic Liquids Database- (ILThermo)

    National Institute of Standards and Technology Data Gateway

    SRD 147 Ionic Liquids Database- (ILThermo) (Web, free access)   IUPAC Ionic Liquids Database, ILThermo, is a free web research tool that allows users worldwide to access an up-to-date data collection from the publications on experimental investigations of thermodynamic, and transport properties of ionic liquids as well as binary and ternary mixtures containing ionic liquids.

  19. Structural Ceramics Database

    National Institute of Standards and Technology Data Gateway

    SRD 30 NIST Structural Ceramics Database (Web, free access)   The NIST Structural Ceramics Database (WebSCD) provides evaluated materials property data for a wide range of advanced ceramics known variously as structural ceramics, engineering ceramics, and fine ceramics.

  20. Atomic Spectra Database (ASD)

    National Institute of Standards and Technology Data Gateway

    SRD 78 NIST Atomic Spectra Database (ASD) (Web, free access)   This database provides access and search capability for NIST critically evaluated data on atomic energy levels, wavelengths, and transition probabilities that are reasonably up-to-date. The NIST Atomic Spectroscopy Data Center has carried out these critical compilations.

  1. A Quality System Database

    NASA Technical Reports Server (NTRS)

    Snell, William H.; Turner, Anne M.; Gifford, Luther; Stites, William

    2010-01-01

    A quality system database (QSD), and software to administer the database, were developed to support recording of administrative nonconformance activities that involve requirements for documentation of corrective and/or preventive actions, which can include ISO 9000 internal quality audits and customer complaints.

  2. Consumer Product Category Database

    EPA Pesticide Factsheets

    The Chemical and Product Categories database (CPCat) catalogs the use of over 40,000 chemicals and their presence in different consumer products. The chemical use information is compiled from multiple sources while product information is gathered from publicly available Material Safety Data Sheets (MSDS). EPA researchers are evaluating the possibility of expanding the database with additional product and use information.

  3. Reach Address Database (RAD)

    EPA Pesticide Factsheets

    The Reach Address Database (RAD) stores the reach address of each Water Program feature that has been linked to the underlying surface water features (streams, lakes, etc) in the National Hydrology Database (NHD). (A reach is the portion of a stream between two points of confluence. A confluence is the location where two or more streams flow together.)

  4. Online Database Searching Workbook.

    ERIC Educational Resources Information Center

    Littlejohn, Alice C.; Parker, Joan M.

    Designed primarily for use by first-time searchers, this workbook provides an overview of online searching. Following a brief introduction which defines online searching, databases, and database producers, five steps in carrying out a successful search are described: (1) identifying the main concepts of the search statement; (2) selecting a…

  5. Database Searching by Managers.

    ERIC Educational Resources Information Center

    Arnold, Stephen E.

    Managers and executives need the easy and quick access to business and management information that online databases can provide, but many have difficulty articulating their search needs to an intermediary. One possible solution would be to encourage managers and their immediate support staff members to search textual databases directly as they now…

  6. Knowledge Discovery in Databases.

    ERIC Educational Resources Information Center

    Norton, M. Jay

    1999-01-01

    Knowledge discovery in databases (KDD) revolves around the investigation and creation of knowledge, processes, algorithms, and mechanisms for retrieving knowledge from data collections. The article is an introductory overview of KDD. The rationale and environment of its development and applications are discussed. Issues related to database design…

  7. Morchella MLST database

    USDA-ARS?s Scientific Manuscript database

    Welcome to the Morchella MLST database. This dedicated database was set up at the CBS-KNAW Biodiversity Center by Vincent Robert in February 2012, using BioloMICS software (Robert et al., 2011), to facilitate DNA sequence-based identifications of Morchella species via the Internet. The current datab...

  8. HIV Structural Database

    National Institute of Standards and Technology Data Gateway

    SRD 102 HIV Structural Database (Web, free access)   The HIV Protease Structural Database is an archive of experimentally determined 3-D structures of Human Immunodeficiency Virus 1 (HIV-1), Human Immunodeficiency Virus 2 (HIV-2) and Simian Immunodeficiency Virus (SIV) Proteases and their complexes with inhibitors or products of substrate cleavage.

  9. Biological Macromolecule Crystallization Database

    National Institute of Standards and Technology Data Gateway

    SRD 21 Biological Macromolecule Crystallization Database (Web, free access)   The Biological Macromolecule Crystallization Database and NASA Archive for Protein Crystal Growth Data (BMCD) contains the conditions reported for the crystallization of proteins and nucleic acids used in X-ray structure determinations and archives the results of microgravity macromolecule crystallization studies.

  10. Online Database Searching Workbook.

    ERIC Educational Resources Information Center

    Littlejohn, Alice C.; Parker, Joan M.

    Designed primarily for use by first-time searchers, this workbook provides an overview of online searching. Following a brief introduction which defines online searching, databases, and database producers, five steps in carrying out a successful search are described: (1) identifying the main concepts of the search statement; (2) selecting a…

  11. First Look: TRADEMARKSCAN Database.

    ERIC Educational Resources Information Center

    Fernald, Anne Conway; Davidson, Alan B.

    1984-01-01

    Describes database produced by Thomson and Thomson and available on Dialog which contains over 700,000 records representing all active federal trademark registrations and applications for registrations filed in United States Patent and Trademark Office. A typical record, special features, database applications, learning to use TRADEMARKSCAN, and…

  12. Knowledge Discovery in Databases.

    ERIC Educational Resources Information Center

    Norton, M. Jay

    1999-01-01

    Knowledge discovery in databases (KDD) revolves around the investigation and creation of knowledge, processes, algorithms, and mechanisms for retrieving knowledge from data collections. The article is an introductory overview of KDD. The rationale and environment of its development and applications are discussed. Issues related to database design…

  13. Database Reviews: Legal Information.

    ERIC Educational Resources Information Center

    Seiser, Virginia

    Detailed reviews of two legal information databases--"Laborlaw I" and "Legal Resource Index"--are presented in this paper. Each database review begins with a bibliographic entry listing the title; producer; vendor; cost per hour contact time; offline print cost per citation; time period covered; frequency of updates; and size…

  14. Cascadia Tsunami Deposit Database

    USGS Publications Warehouse

    Peters, Robert; Jaffe, Bruce; Gelfenbaum, Guy; Peterson, Curt

    2003-01-01

    The Cascadia Tsunami Deposit Database contains data on the location and sedimentological properties of tsunami deposits found along the Cascadia margin. Data have been compiled from 52 studies, documenting 59 sites from northern California to Vancouver Island, British Columbia that contain known or potential tsunami deposits. Bibliographical references are provided for all sites included in the database. Cascadia tsunami deposits are usually seen as anomalous sand layers in coastal marsh or lake sediments. The studies cited in the database use numerous criteria based on sedimentary characteristics to distinguish tsunami deposits from sand layers deposited by other processes, such as river flooding and storm surges. Several studies cited in the database contain evidence for more than one tsunami at a site. Data categories include age, thickness, layering, grainsize, and other sedimentological characteristics of Cascadia tsunami deposits. The database documents the variability observed in tsunami deposits found along the Cascadia margin.

  15. Infevers: an evolving mutation database for auto-inflammatory syndromes.

    PubMed

    Touitou, Isabelle; Lesage, Suzanne; McDermott, Michael; Cuisset, Laurence; Hoffman, Hal; Dode, Catherine; Shoham, Nitza; Aganna, Ebun; Hugot, Jean-Pierre; Wise, Carol; Waterham, Hans; Pugnere, Denis; Demaille, Jacques; Sarrauste de Menthiere, Cyril

    2004-09-01

    The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular Syndrome (FCAS/MWS/CINCA). The prototype of this group of disorders is FMF, a recessive disease characterized by recurrent bouts of unexplained inflammation. FMF is the pivotal member of an expanding family of autoinflammatory disorders, a new term coined to describe illnesses resulting from a defect of the innate immune response. Therefore, we decided to extend the Infevers database to genes connected with autoinflammatory diseases. We present here the biological content of the Infevers database, including the introduction of two new entries: Crohn/Blau and Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA syndrome). Infevers has a range of query capabilities, allowing for simple or complex interrogation of the database. Currently, the database contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1), consisting of published data and personal communications, which has revealed or refined the preferential mutational sites for each gene. This database will continue to evolve in its content and to improve in its presentation.

  16. Efficient analysis of mouse genome sequences reveal many nonsense variants

    PubMed Central

    Steeland, Sophie; Timmermans, Steven; Van Ryckeghem, Sara; Hulpiau, Paco; Saeys, Yvan; Van Montagu, Marc; Vandenbroucke, Roosmarijn E.; Libert, Claude

    2016-01-01

    Genetic polymorphisms in coding genes play an important role when using mouse inbred strains as research models. They have been shown to influence research results, explain phenotypical differences between inbred strains, and increase the amount of interesting gene variants present in the many available inbred lines. SPRET/Ei is an inbred strain derived from Mus spretus that has ∼1% sequence difference with the C57BL/6J reference genome. We obtained a listing of all SNPs and insertions/deletions (indels) present in SPRET/Ei from the Mouse Genomes Project (Wellcome Trust Sanger Institute) and processed these data to obtain an overview of all transcripts having nonsynonymous coding sequence variants. We identified 8,883 unique variants affecting 10,096 different transcripts from 6,328 protein-coding genes, which is about 28% of all coding genes. Because only a subset of these variants results in drastic changes in proteins, we focused on variations that are nonsense mutations that ultimately resulted in a gain of a stop codon. These genes were identified by in silico changing the C57BL/6J coding sequences to the SPRET/Ei sequences, converting them to amino acid (AA) sequences, and comparing the AA sequences. All variants and transcripts affected were also stored in a database, which can be browsed using a SPRET/Ei M. spretus variants web tool (www.spretus.org), including a manual. We validated the tool by demonstrating the loss of function of three proteins predicted to be severely truncated, namely Fas, IRAK2, and IFNγR1. PMID:27147605

  17. Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

    PubMed

    Kumar, Abhishek; Bhandari, Anita; Sarde, Sandeep J; Muppavarapu, Sekhar; Tandon, Ravi

    2015-07-10

    The recombination-activating genes (RAGs) encode for V(D)J recombinases responsible for rearrangements of antigen-receptor genes during T and B cell development, and RAG expression is known to correlate strictly with the process of rearrangement. There have been several studies of RAG1 illustrating biochemical, physiological and immunological properties. Hitherto, there are limited studies on RAG1 focusing molecular phylogenetic analyses, evolutionary traits, and genetic variants in human populations. Hence, there is a need of a comprehensive study on this topic. In the current report, we have shed light into insights of evolutionary traits and genetic variants of human RAG1 gene using 1092 genomes from human populations. Syntenic analyses revealed that two RAG genes are physically linked and conserved on the same locus in head-to-head orientation from sea urchin to human for about 550 MY. Spliceosomal introns have been in invaded in fishes and sea urchin, whereas gene structures of RAG1 gene from tetrapods remained single exon architecture. We compiled 751 genetic variants in human RAG1 gene using 1092 human genomes; where major stockholders of variant classes are 79% single nucleotide polymorphisms (SNPs), 12.2% somatic single nucleotide variants (somatic SNVs) and 6.8% deletion. Out of 267 missense variants, 140 are deleterious mutations. We identified 284 non-coding variants with 94% regulatory in nature.

  18. The Roche Cancer Genome Database (RCGDB).

    PubMed

    Küntzer, Jan; Eggle, Daniela; Lenhof, Hans-Peter; Burtscher, Helmut; Klostermann, Stefan

    2010-04-01

    Sequence variations are being studied for a better understanding of the mechanism and development of cancer as a mutation-driven disease. The systematic sequencing of genes in tumors and technological advances in high-throughput techniques combined with efficient data acquisition methods have resulted in an explosion of available cancer genome-related data. Despite the technological progress and increase of data, improvements in the application area, for example, drug target discovery, have failed to keep pace with increased research and development spending. One reason for this discrepancy is the ever increasing number of databases and the absence of a unified access to the mutation data. Currently, researchers typically have to browse several, often highly specialized databases to obtain the required information. A more complete understanding of relations and dependencies between mutations and cancer, however, requires the availability of an efficient integrative cancer genome information system. To facilitate this, we developed the Roche Cancer Genome Database (RCGDB), a freely available biological information system integrating different kinds of mutation data. The database is the first comprehensive integration of disparate cancer genome data like single nucleotide variants, single nucleotide polymorphisms, and chromosomal aberrations (CGH and FISH). RCGDB is freely accessible via a Google-like Web interface at http://rcgdb.bioinf.uni-sb.de/MutomeWeb/. (c) 2010 Wiley-Liss, Inc.

  19. The UCSC Genome Browser database: 2014 update.

    PubMed

    Karolchik, Donna; Barber, Galt P; Casper, Jonathan; Clawson, Hiram; Cline, Melissa S; Diekhans, Mark; Dreszer, Timothy R; Fujita, Pauline A; Guruvadoo, Luvina; Haeussler, Maximilian; Harte, Rachel A; Heitner, Steve; Hinrichs, Angie S; Learned, Katrina; Lee, Brian T; Li, Chin H; Raney, Brian J; Rhead, Brooke; Rosenbloom, Kate R; Sloan, Cricket A; Speir, Matthew L; Zweig, Ann S; Haussler, David; Kuhn, Robert M; Kent, W James

    2014-01-01

    The University of California Santa Cruz (UCSC) Genome Browser (http://genome.ucsc.edu) offers online public access to a growing database of genomic sequence and annotations for a large collection of organisms, primarily vertebrates, with an emphasis on the human and mouse genomes. The Browser's web-based tools provide an integrated environment for visualizing, comparing, analysing and sharing both publicly available and user-generated genomic data sets. As of September 2013, the database contained genomic sequence and a basic set of annotation 'tracks' for ∼90 organisms. Significant new annotations include a 60-species multiple alignment conservation track on the mouse, updated UCSC Genes tracks for human and mouse, and several new sets of variation and ENCODE data. New software tools include a Variant Annotation Integrator that returns predicted functional effects of a set of variants uploaded as a custom track, an extension to UCSC Genes that displays haplotype alleles for protein-coding genes and an expansion of data hubs that includes the capability to display remotely hosted user-provided assembly sequence in addition to annotation data. To improve European access, we have added a Genome Browser mirror (http://genome-euro.ucsc.edu) hosted at Bielefeld University in Germany.

  20. CancerDR: cancer drug resistance database.

    PubMed

    Kumar, Rahul; Chaudhary, Kumardeep; Gupta, Sudheer; Singh, Harinder; Kumar, Shailesh; Gautam, Ankur; Kapoor, Pallavi; Raghava, Gajendra P S

    2013-01-01

    Cancer therapies are limited by the development of drug resistance, and mutations in drug targets is one of the main reasons for developing acquired resistance. The adequate knowledge of these mutations in drug targets would help to design effective personalized therapies. Keeping this in mind, we have developed a database "CancerDR", which provides information of 148 anti-cancer drugs, and their pharmacological profiling across 952 cancer cell lines. CancerDR provides comprehensive information about each drug target that includes; (i) sequence of natural variants, (ii) mutations, (iii) tertiary structure, and (iv) alignment profile of mutants/variants. A number of web-based tools have been integrated in CancerDR. This database will be very useful for identification of genetic alterations in genes encoding drug targets, and in turn the residues responsible for drug resistance. CancerDR allows user to identify promiscuous drug molecules that can kill wide range of cancer cells. CancerDR is freely accessible at http://crdd.osdd.net/raghava/cancerdr/

  1. Imaging appearances of musculoskeletal developmental variants in the pediatric population.

    PubMed

    Berko, Netanel S; Kurian, Jessica; Taragin, Benjamin H; Thornhill, Beverly A

    2015-01-01

    Variations in musculoskeletal development in children are commonly encountered. These variants often have a confusing appearance on imaging and may simulate pathologic conditions. However, in many instances, these normal variants have certain features that allow for confident determination of the benign nature of these entities. An awareness of the characteristic imaging features is therefore important for radiologists. In this review, we focus on 4 specific categories of variants in the development: (1) variations in the normal ossification of skeletal structures, (2) the appearance of tendinous and ligamentous insertions in the developing skeleton, (3) overlapping lines that can be confused with fractures or other pathologic conditions, and (4) variant orientation of normal bones. We review the etiology and imaging appearance of these entities and also describe methods of differentiating these benign entities from pathologic lesions. Although in certain cases, correlation with clinical parameters is needed to confidently diagnose the lesion as benign, in many cases, an appreciation of the characteristic imaging features alone would suffice and prevent a potentially costly workup. Copyright © 2014 Mosby, Inc. All rights reserved.

  2. The Development of a Design Database for the Computer Aided Prototyping System

    DTIC Science & Technology

    1991-09-01

    NAVAL POSTGRADUATE SCHOOL * Monterey, California AD-A245 786 1I I1 11 , 11 ,l DTIC R E.LECTE FEB 121992D THESIS 0 THE DEVELOPMENT OF A DESIGN ...ELEMENT NO. I NO. NO. ACCESSION NO. 11. TITLE (Include Security Classification) THE DEVELOPMENT OF A DESIGN DATABASE FOR THE COMPUTER AIDED PROTOTYPING...and identify by block number) FIELD GROUP SUB-GROUP Design Database, Engineering Database, Object Oriented Database,Computer Aided Prototyping System

  3. GETPrime: a gene- or transcript-specific primer database for quantitative real-time PCR

    PubMed Central

    Gubelmann, Carine; Gattiker, Alexandre; Massouras, Andreas; Hens, Korneel; David, Fabrice; Decouttere, Frederik; Rougemont, Jacques; Deplancke, Bart

    2011-01-01

    The vast majority of genes in humans and other organisms undergo alternative splicing, yet the biological function of splice variants is still very poorly understood in large part because of the lack of simple tools that can map the expression profiles and patterns of these variants with high sensitivity. High-throughput quantitative real-time polymerase chain reaction (qPCR) is an ideal technique to accurately quantify nucleic acid sequences including splice variants. However, currently available primer design programs do not distinguish between splice variants and also differ substantially in overall quality, functionality or throughput mode. Here, we present GETPrime, a primer database supported by a novel platform that uniquely combines and automates several features critical for optimal qPCR primer design. These include the consideration of all gene splice variants to enable either gene-specific (covering the majority of splice variants) or transcript-specific (covering one splice variant) expression profiling, primer specificity validation, automated best primer pair selection according to strict criteria and graphical visualization of the latter primer pairs within their genomic context. GETPrime primers have been extensively validated experimentally, demonstrating high transcript specificity in complex samples. Thus, the free-access, user-friendly GETPrime database allows fast primer retrieval and visualization for genes or groups of genes of most common model organisms, and is available at http://updepla1srv1.epfl.ch/getprime/. Database URL: http://deplanckelab.epfl.ch. PMID:21917859

  4. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    PubMed Central

    Fraile-Bethencourt, Eugenia; Díez-Gómez, Beatriz; Acedo, Alberto; Sanz, David J.

    2017-01-01

    .8023A>G, c.8035G>T and c.8331G>A), accounting for 30.8% of all pathogenic/likely pathogenic variants of exons 17–18 at the BRCA Share database. The remaining 8 variants (c.7975A>G, c.7977-6T>G, c.7988A>T, c.7992T>A, c.8007A>G, c.8009C>T, c.8009C>G, and c.8072C>T) induced partial splicing anomalies with important ratios of the full-length transcript (≥70%), so that they remained classified as VUS. Aberrant splicing is therefore especially prevalent in BRCA2 exons 17 and 18 due to the presence of active ESEs involved in exon recognition. Splicing functional assays with minigenes are a valuable strategy for the initial characterization of the splicing outcomes and the subsequent clinical interpretation of variants of any disease-gene, although these results should be checked, whenever possible, against patient RNA. PMID:28339459

  5. Hazard Analysis Database Report

    SciTech Connect

    GRAMS, W.H.

    2000-12-28

    The Hazard Analysis Database was developed in conjunction with the hazard analysis activities conducted in accordance with DOE-STD-3009-94, Preparation Guide for U S . Department of Energy Nonreactor Nuclear Facility Safety Analysis Reports, for HNF-SD-WM-SAR-067, Tank Farms Final Safety Analysis Report (FSAR). The FSAR is part of the approved Authorization Basis (AB) for the River Protection Project (RPP). This document describes, identifies, and defines the contents and structure of the Tank Farms FSAR Hazard Analysis Database and documents the configuration control changes made to the database. The Hazard Analysis Database contains the collection of information generated during the initial hazard evaluations and the subsequent hazard and accident analysis activities. The Hazard Analysis Database supports the preparation of Chapters 3 ,4 , and 5 of the Tank Farms FSAR and the Unreviewed Safety Question (USQ) process and consists of two major, interrelated data sets: (1) Hazard Analysis Database: Data from the results of the hazard evaluations, and (2) Hazard Topography Database: Data from the system familiarization and hazard identification.

  6. National Database of Geriatrics

    PubMed Central

    Kannegaard, Pia Nimann; Vinding, Kirsten L; Hare-Bruun, Helle

    2016-01-01

    Aim of database The aim of the National Database of Geriatrics is to monitor the quality of interdisciplinary diagnostics and treatment of patients admitted to a geriatric hospital unit. Study population The database population consists of patients who were admitted to a geriatric hospital unit. Geriatric patients cannot be defined by specific diagnoses. A geriatric patient is typically a frail multimorbid elderly patient with decreasing functional ability and social challenges. The database includes 14–15,000 admissions per year, and the database completeness has been stable at 90% during the past 5 years. Main variables An important part of the geriatric approach is the interdisciplinary collaboration. Indicators, therefore, reflect the combined efforts directed toward the geriatric patient. The indicators include Barthel index, body mass index, de Morton Mobility Index, Chair Stand, percentage of discharges with a rehabilitation plan, and the part of cases where an interdisciplinary conference has taken place. Data are recorded by doctors, nurses, and therapists in a database and linked to the Danish National Patient Register. Descriptive data Descriptive patient-related data include information about home, mobility aid, need of fall and/or cognitive diagnosing, and categorization of cause (general geriatric, orthogeriatric, or neurogeriatric). Conclusion The National Database of Geriatrics covers ∼90% of geriatric admissions in Danish hospitals and provides valuable information about a large and increasing patient population in the health care system. PMID:27822120

  7. ResPlan Database

    NASA Technical Reports Server (NTRS)

    Zellers, Michael L.

    2003-01-01

    The main project I was involved in was new application development for the existing CIS0 Database (ResPlan). This database application was developed in Microsoft Access. Initial meetings with Greg Follen, Linda McMillen, Griselle LaFontaine and others identified a few key weaknesses with the existing database. The weaknesses centered around that while the database correctly modeled the structure of Programs, Projects and Tasks, once the data was entered, the database did not capture any dynamic status information, and as such was of limited usefulness. After the initial meetings my goals were identified as follows: Enhance the ResPlan Database to include qualitative and quantitative status information about the Programs, Projects and Tasks Train staff members about the ResPlan database from both the user perspective and the developer perspective Give consideration to a Web Interface for reporting. Initially, the thought was that there would not be adequate time to actually develop the Web Interface, Greg wanted it understood that this was an eventual goal and as such should be a consideration throughout the development process.

  8. The NCBI Taxonomy database

    PubMed Central

    Federhen, Scott

    2012-01-01

    The NCBI Taxonomy database (http://www.ncbi.nlm.nih.gov/taxonomy) is the standard nomenclature and classification repository for the International Nucleotide Sequence Database Collaboration (INSDC), comprising the GenBank, ENA (EMBL) and DDBJ databases. It includes organism names and taxonomic lineages for each of the sequences represented in the INSDC’s nucleotide and protein sequence databases. The taxonomy database is manually curated by a small group of scientists at the NCBI who use the current taxonomic literature to maintain a phylogenetic taxonomy for the source organisms represented in the sequence databases. The taxonomy database is a central organizing hub for many of the resources at the NCBI, and provides a means for clustering elements within other domains of NCBI web site, for internal linking between domains of the Entrez system and for linking out to taxon-specific external resources on the web. Our primary purpose is to index the domain of sequences as conveniently as possible for our user community. PMID:22139910

  9. Database for propagation models

    NASA Technical Reports Server (NTRS)

    Kantak, Anil V.

    1991-01-01

    A propagation researcher or a systems engineer who intends to use the results of a propagation experiment is generally faced with various database tasks such as the selection of the computer software, the hardware, and the writing of the programs to pass the data through the models of interest. This task is repeated every time a new experiment is conducted or the same experiment is carried out at a different location generating different data. Thus the users of this data have to spend a considerable portion of their time learning how to implement the computer hardware and the software towards the desired end. This situation may be facilitated considerably if an easily accessible propagation database is created that has all the accepted (standardized) propagation phenomena models approved by the propagation research community. Also, the handling of data will become easier for the user. Such a database construction can only stimulate the growth of the propagation research it if is available to all the researchers, so that the results of the experiment conducted by one researcher can be examined independently by another, without different hardware and software being used. The database may be made flexible so that the researchers need not be confined only to the contents of the database. Another way in which the database may help the researchers is by the fact that they will not have to document the software and hardware tools used in their research since the propagation research community will know the database already. The following sections show a possible database construction, as well as properties of the database for the propagation research.

  10. Glycoproteomic and glycomic databases.

    PubMed

    Baycin Hizal, Deniz; Wolozny, Daniel; Colao, Joseph; Jacobson, Elena; Tian, Yuan; Krag, Sharon S; Betenbaugh, Michael J; Zhang, Hui

    2014-01-01

    Protein glycosylation serves critical roles in the cellular and biological processes of many organisms. Aberrant glycosylation has been associated with many illnesses such as hereditary and chronic diseases like cancer, cardiovascular diseases, neurological disorders, and immunological disorders. Emerging mass spectrometry (MS) technologies that enable the high-throughput identification of glycoproteins and glycans have accelerated the analysis and made possible the creation of dynamic and expanding databases. Although glycosylation-related databases have been established by many laboratories and institutions, they are not yet widely known in the community. Our study reviews 15 different publicly available databases and identifies their key elements so that users can identify the most applicable platform for their analytical needs. These databases include biological information on the experimentally identified glycans and glycopeptides from various cells and organisms such as human, rat, mouse, fly and zebrafish. The features of these databases - 7 for glycoproteomic data, 6 for glycomic data, and 2 for glycan binding proteins are summarized including the enrichment techniques that are used for glycoproteome and glycan identification. Furthermore databases such as Unipep, GlycoFly, GlycoFish recently established by our group are introduced. The unique features of each database, such as the analytical methods used and bioinformatical tools available are summarized. This information will be a valuable resource for the glycobiology community as it presents the analytical methods and glycosylation related databases together in one compendium. It will also represent a step towards the desired long term goal of integrating the different databases of glycosylation in order to characterize and categorize glycoproteins and glycans better for biomedical research.

  11. Rare deleterious variants in GRHL3 are associated with human spina bifida.

    PubMed

    Lemay, Philippe; De Marco, Patrizia; Emond, Alexandre; Spiegelman, Dan; Dionne-Laporte, Alexandre; Laurent, Sandra; Merello, Elisa; Accogli, Andrea; Rouleau, Guy A; Capra, Valeria; Kibar, Zoha

    2017-06-01

    Neural tube defects, including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted a resequencing analysis of GRHL3 in a cohort of 233 familial and sporadic cases of spina bifida. We identified two novel truncating variants: one homozygous frameshift variant, p.Asp16Aspfs*10, in two affected siblings and one heterozygous intronic splicing variant, p.Ala318Glyfs*26. We also identified five missense variants, one of which was demonstrated to reduce the activation of gene targets in a luciferase reporter assay. With the previously identified p.Arg391Cys variant, eight variants were found in GRHL3. Comparison of the variant rate between our cohort and the ExAC database identified a significant enrichment of deleterious variants in GRHL3 in the whole gene and the transactivation region in spina bifida patients. These data provide strong evidence for a role of GRHL3 as a predisposing factor to spina bifida and will help dissect the complex etiology and pathogenic mechanisms of these malformations. © 2017 Wiley Periodicals, Inc.

  12. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

    PubMed

    Wei, Ming-Hui; Blake, Patrick W; Shevchenko, Julia; Toro, Jorge R

    2009-09-01

    The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome. BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms. To date, 53 unique germline mutations have been reported. FLCN mutation detection rate is 88%. FLCN encodes a predicted 579-amino acid protein, designated folliculin that is highly conserved between humans and homologs in mice, Drosophila, and C. elegans. We developed the first online database detailing all FLCN variants identified in our laboratory and reported in the literature. The FLCN database applies, and assists researchers in applying HGVS nomenclature guidelines. To date, the FCLN database includes 84 variants: 53 unique germline mutations and 31 SNPs. The majority of FLCN germline mutations are predicted to produce a truncated folliculin, resulting in loss of function. The FLCN mutations consist of: 45% (24/53) deletions, 32% (17/53) substitutions (10 putative-splice site, 5 nonsense, and 2 missense), 15% (8/53) duplications, 6% (3/53) insertion/deletions and 2% (1/53) insertions. The database strives to systematically unify current knowledge of FLCN variants and will be useful to geneticists and genetic counselors while also providing a rapid and systematic resource for investigators.

  13. Mutation Update for UBE3A variants in Angelman syndrome.

    PubMed

    Sadikovic, Bekim; Fernandes, Priscilla; Zhang, Victor Wei; Ward, Patricia A; Miloslavskaya, Irene; Rhead, William; Rosenbaum, Richard; Gin, Robert; Roa, Benjamin; Fang, Ping

    2014-12-01

    Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome. The variants described in this manuscript represent the analysis of 2,515 patients referred for UBE3A gene sequencing at our institution, along with a comprehensive review of the UBE3A mutation literature. Of these, 267 (10.62%) patients had a report issued for detection of a UBE3A gene nucleotide variant, which in many cases involved family studies resulting in reclassification of variants of unknown clinical significance (VUS). Overall, 111 (4.41%) probands had a nucleotide change classified as pathogenic or strongly favored to be pathogenic, 29 (1.15%) had a VUS, and 126 (5.0%) had a nucleotide change classified as benign or strongly favored to be benign. All variants and their clinical interpretations are submitted to NCBI ClinVar, a freely accessible human variation and phenotype database.

  14. USING BIOBIN TO EXPLORE RARE VARIANT POPULATION STRATIFICATION*

    PubMed Central

    Moore, Carrie B.; Wallace, John R.; Frase, Alex T.; Pendergrass, Sarah A.; Ritchie, Marylyn D.

    2013-01-01

    Rare variants (RVs) will likely explain additional heritability of many common complex diseases; however, the natural frequencies of rare variation across and between human populations are largely unknown. We have developed a powerful, flexible collapsing method called BioBin that utilizes prior biological knowledge using multiple publicly available database sources to direct analyses. Variants can be collapsed according to functional regions, evolutionary conserved regions, regulatory regions, genes, and/or pathways without the need for external files. We conducted an extensive comparison of rare variant burden differences (MAF < 0.03) between two ancestry groups from 1000 Genomes Project data, Yoruba (YRI) and European descent (CEU) individuals. We found that 56.86% of gene bins, 72.73% of intergenic bins, 69.45% of pathway bins, 32.36% of ORegAnno annotated bins, and 9.10% of evolutionary conserved regions (shared with primates) have statistically significant differences in RV burden. Ongoing efforts include examining additional regional characteristics using regulatory regions and protein binding domains. Our results show interesting variant differences between two ancestral populations and demonstrate that population stratification is a pervasive concern for sequence analyses. PMID:23424138

  15. Hybrid Terrain Database

    NASA Technical Reports Server (NTRS)

    Arthur, Trey

    2006-01-01

    A prototype hybrid terrain database is being developed in conjunction with other databases and with hardware and software that constitute subsystems of aerospace cockpit display systems (known in the art as synthetic vision systems) that generate images to increase pilots' situation awareness and eliminate poor visibility as a cause of aviation accidents. The basic idea is to provide a clear view of the world around an aircraft by displaying computer-generated imagery derived from an onboard database of terrain, obstacle, and airport information.

  16. Databases for materials selection

    SciTech Connect

    1996-06-01

    The Cambridge Materials Selector (CMS2.0) materials database was developed by the Engineering Dept. at Cambridge University in the United Kingdom. This database makes it possible to select a material for a specific application from essentially all classes of materials. Genera, Predict, and Socrates software programs from CLI International, Houston, Texas, automate materials selection and corrosion problem-solving tasks. They are said to significantly reduce the time necessary to select a suitable material and/or to assess a corrosion problem and reach cost-effective solutions. This article describes both databases and tells how to use them.

  17. JICST Factual Database

    NASA Astrophysics Data System (ADS)

    Suzuki, Kazuaki; Shimura, Kazuki; Monma, Yoshio; Sakamoto, Masao; Morishita, Hiroshi; Kanazawa, Kenji

    The Japan Information Center of Science and Technology (JICST) has started the on-line service of JICST/NRIM Materials Strength Database for Engineering Steels and Alloys (JICST ME) in this March (1990). This database has been developed under the joint research between JICST and the National Research Institute for Metals (NRIM). It provides material strength data (creep, fatigue, etc.) of engineering steels and alloys. It is able to search and display on-line, and to analyze the searched data statistically and plot the result on graphic display. The database system and the data in JICST ME are described.

  18. Phase Equilibria Diagrams Database

    National Institute of Standards and Technology Data Gateway

    SRD 31 NIST/ACerS Phase Equilibria Diagrams Database (PC database for purchase)   The Phase Equilibria Diagrams Database contains commentaries and more than 21,000 diagrams for non-organic systems, including those published in all 21 hard-copy volumes produced as part of the ACerS-NIST Phase Equilibria Diagrams Program (formerly titled Phase Diagrams for Ceramists): Volumes I through XIV (blue books); Annuals 91, 92, 93; High Tc Superconductors I & II; Zirconium & Zirconia Systems; and Electronic Ceramics I. Materials covered include oxides as well as non-oxide systems such as chalcogenides and pnictides, phosphates, salt systems, and mixed systems of these classes.

  19. Working with Existing Databases

    PubMed Central

    Murphy, Melissa; Alavi, Karim; Maykel, Justin

    2013-01-01

    Outcomes research has established itself as an integral part of surgical research as physicians and hospitals are increasingly required to demonstrate attainment of performance markers and surgical safety indicators. Large-volume and clinical and administrative databases are used to study regional practice pattern variations, health care disparities, and resource utilization. Understanding the unique strengths and limitations of these large databases is critical to performing quality surgical outcomes research. In the current work, we review the currently available large-volume databases including selection processes, modes of analyses, data application, and limitations. PMID:24436641

  20. Plant Genome Duplication Database.

    PubMed

    Lee, Tae-Ho; Kim, Junah; Robertson, Jon S; Paterson, Andrew H

    2017-01-01

    Genome duplication, widespread in flowering plants, is a driving force in evolution. Genome alignments between/within genomes facilitate identification of homologous regions and individual genes to investigate evolutionary consequences of genome duplication. PGDD (the Plant Genome Duplication Database), a public web service database, provides intra- or interplant genome alignment information. At present, PGDD contains information for 47 plants whose genome sequences have been released. Here, we describe methods for identification and estimation of dates of genome duplication and speciation by functions of PGDD.The database is freely available at http://chibba.agtec.uga.edu/duplication/.

  1. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

    PubMed

    Holland, Katherine D; Bouley, Thomas M; Horn, Paul S

    2017-07-01

    Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases. The objective of this work was to enhance clinicians' understanding of results by (1) determining how effectively computational algorithms predict epileptogenicity of sodium channel (SCN) missense variants; (2) optimizing their predictive capabilities; and (3) determining if epilepsy-associated SCN variants are present in population-based databases. This will help clinicians better understand the results of indeterminate SCN test results in people with epilepsy. Pathogenic, likely pathogenic, and benign variants in SCNs were identified using databases of sodium channel variants. Benign variants were also identified from population-based databases. Eight algorithms commonly used to predict pathogenicity were compared. In addition, logistic regression was used to determine if a combination of algorithms could better predict pathogenicity. Based on American College of Medical Genetic Criteria, 440 variants were classified as pathogenic or likely pathogenic and 84 were classified as benign or likely benign. Twenty-eight variants previously associated with epilepsy were present in population-based gene databases. The output provided by most computational algorithms had a high sensitivity but low specificity with an accuracy of 0.52-0.77. Accuracy could be improved by adjusting the threshold for pathogenicity. Using this adjustment, the Mendelian Clinically Applicable Pathogenicity (M-CAP) algorithm had an accuracy of 0.90 and a

  2. Human membrane transporter database: a Web-accessible relational database for drug transport studies and pharmacogenomics.

    PubMed

    Yan, Q; Sadée, W

    2000-01-01

    The human genome contains numerous genes that encode membrane transporters and related proteins. For drug discovery, development, and targeting, one needs to know which transporters play a role in drug disposition and effects. Moreover, genetic polymorphisms in human membrane transporters may contribute to interindividual differences in the response to drugs. Pharmacogenetics, and, on a genome-wide basis, pharmacogenomics, address the effect of genetic variants on an individual's response to drugs and xenobiotics. However, our knowledge of the relevant transporters is limited at present. To facilitate the study of drug transporters on a broad scale, including the use of microarray technology, we have constructed a human membrane transporter database (HMTD). Even though it is still largely incomplete, the database contains information on more than 250 human membrane transporters, such as sequence, gene family, structure, function, substrate, tissue distribution, and genetic disorders associated with transporter polymorphisms. Readers are invited to submit additional data. Implemented as a relational database, HMTD supports complex biological queries. Accessible through a Web browser user interface via Common Gateway Interface (CGI) and Java Database Connection (JDBC), HMTD also provides useful links and references, allowing interactive searching and downloading of data. Taking advantage of the features of an electronic journal, this paper serves as an interactive tutorial for using the database, which we expect to develop into a research tool.

  3. The concept and the variants of the activities deployment on the Moon research and exploration

    NASA Astrophysics Data System (ADS)

    Ivanov, Victor; Lukiyashchenko, Vasily; Uspenskiy, Georgy; Tselin, Andrey

    The article presents the concept and the variants of the advanced Lunar program realization for the period up to 2050, oriented to the Moon investigation and its further exploration. The basic problems are considered decided by space and Lunar means for the Moon study, their creation technical problems as well as the preliminary technical and economical cost estimations of Lunar research and exploration phases.

  4. TREATABILITY DATABASE DESCRIPTION

    EPA Science Inventory

    The Drinking Water Treatability Database (TDB) presents referenced information on the control of contaminants in drinking water. It allows drinking water utilities, first responders to spills or emergencies, treatment process designers, research organizations, academics, regulato...

  5. Enhancing medical database security.

    PubMed

    Pangalos, G; Khair, M; Bozios, L

    1994-08-01

    A methodology for the enhancement of database security in a hospital environment is presented in this paper which is based on both the discretionary and the mandatory database security policies. In this way the advantages of both approaches are combined to enhance medical database security. An appropriate classification of the different types of users according to their different needs and roles and a User Role Definition Hierarchy has been used. The experience obtained from the experimental implementation of the proposed methodology in a major general hospital is briefly discussed. The implementation has shown that the combined discretionary and mandatory security enforcement effectively limits the unauthorized access to the medical database, without severely restricting the capabilities of the system.

  6. Chemical Kinetics Database

    National Institute of Standards and Technology Data Gateway

    SRD 17 NIST Chemical Kinetics Database (Web, free access)   The NIST Chemical Kinetics Database includes essentially all reported kinetics results for thermal gas-phase chemical reactions. The database is designed to be searched for kinetics data based on the specific reactants involved, for reactions resulting in specified products, for all the reactions of a particular species, or for various combinations of these. In addition, the bibliography can be searched by author name or combination of names. The database contains in excess of 38,000 separate reaction records for over 11,700 distinct reactant pairs. These data have been abstracted from over 12,000 papers with literature coverage through early 2000.

  7. THE CTEPP DATABASE

    EPA Science Inventory

    The CTEPP (Children's Total Exposure to Persistent Pesticides and Other Persistent Organic Pollutants) database contains a wealth of data on children's aggregate exposures to pollutants in their everyday surroundings. Chemical analysis data for the environmental media and ques...

  8. ARTI Refrigerant Database

    SciTech Connect

    Calm, J.M.

    1994-05-27

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  9. Uranium Location Database Compilation

    EPA Pesticide Factsheets

    EPA has compiled mine location information from federal, state, and Tribal agencies into a single database as part of its investigation into the potential environmental hazards of wastes from abandoned uranium mines in the western United States.

  10. Livestock Anaerobic Digester Database

    EPA Pesticide Factsheets

    The Anaerobic Digester Database provides basic information about anaerobic digesters on livestock farms in the United States, organized in Excel spreadsheets. It includes projects that are under construction, operating, or shut down.

  11. ARTI Refrigerant Database

    SciTech Connect

    Calm, J.M.

    1995-06-01

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  12. ARTI Refrigerant Database

    SciTech Connect

    Calm, J.M.

    1995-02-01

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase-out of chemical compounds of environmental concern.

  13. THE CTEPP DATABASE

    EPA Science Inventory

    The CTEPP (Children's Total Exposure to Persistent Pesticides and Other Persistent Organic Pollutants) database contains a wealth of data on children's aggregate exposures to pollutants in their everyday surroundings. Chemical analysis data for the environmental media and ques...

  14. Household Products Database

    MedlinePlus

    ... Care Landscape/Yard Arts & Crafts Pet Care Pesticides Auto Products Home Office Commercial / Institutional Product Names Types of Products Manufacturers Ingredients About the Database FAQ Product Recalls Help Glossary Contact Us More Resources What's under your ...

  15. Hawaii bibliographic database

    USGS Publications Warehouse

    Wright, T.L.; Takahashi, T.J.

    1998-01-01

    The Hawaii bibliographic database has been created to contain all of the literature, from 1779 to the present, pertinent to the volcanological history of the Hawaiian-Emperor volcanic chain. References are entered in a PC- and Macintosh-compatible EndNote Plus bibliographic database with keywords and abstracts or (if no abstract) with annotations as to content. Keywords emphasize location, discipline, process, identification of new chemical data or age determinations, and type of publication. The database is updated approximately three times a year and is available to upload from an ftp site. The bibliography contained 8460 references at the time this paper was submitted for publication. Use of the database greatly enhances the power and completeness of library searches for anyone interested in Hawaiian volcanism.

  16. Hawaii bibliographic database

    NASA Astrophysics Data System (ADS)

    Wright, Thomas L.; Takahashi, Taeko Jane

    The Hawaii bibliographic database has been created to contain all of the literature, from 1779 to the present, pertinent to the volcanological history of the Hawaiian-Emperor volcanic chain. References are entered in a PC- and Macintosh-compatible EndNote Plus bibliographic database with keywords and s or (if no ) with annotations as to content. Keywords emphasize location, discipline, process, identification of new chemical data or age determinations, and type of publication. The database is updated approximately three times a year and is available to upload from an ftp site. The bibliography contained 8460 references at the time this paper was submitted for publication. Use of the database greatly enhances the power and completeness of library searches for anyone interested in Hawaiian volcanism.

  17. Nuclear Science References Database

    SciTech Connect

    Pritychenko, B.; Běták, E.; Singh, B.; Totans, J.

    2014-06-15

    The Nuclear Science References (NSR) database together with its associated Web interface, is the world's only comprehensive source of easily accessible low- and intermediate-energy nuclear physics bibliographic information for more than 210,000 articles since the beginning of nuclear science. The weekly-updated NSR database provides essential support for nuclear data evaluation, compilation and research activities. The principles of the database and Web application development and maintenance are described. Examples of nuclear structure, reaction and decay applications are specifically included. The complete NSR database is freely available at the websites of the National Nuclear Data Center (http://www.nndc.bnl.gov/nsr) and the International Atomic Energy Agency (http://www-nds.iaea.org/nsr)

  18. Numeric Databases in the Sciences.

    ERIC Educational Resources Information Center

    Meschel, S. V.

    1984-01-01

    Provides exploration into types of numeric databases available (also known as source databases, nonbibliographic databases, data-files, data-banks, fact banks); examines differences and similarities between bibliographic and numeric databases; identifies disciplines that utilize numeric databases; and surveys representative examples in the…

  19. Querying genomic databases

    SciTech Connect

    Baehr, A.; Hagstrom, R.; Joerg, D.; Overbeek, R.

    1991-09-01

    A natural-language interface has been developed that retrieves genomic information by using a simple subset of English. The interface spares the biologist from the task of learning database-specific query languages and computer programming. Currently, the interface deals with the E. coli genome. It can, however, be readily extended and shows promise as a means of easy access to other sequenced genomic databases as well.

  20. Steam Properties Database

    National Institute of Standards and Technology Data Gateway

    SRD 10 NIST/ASME Steam Properties Database (PC database for purchase)   Based upon the International Association for the Properties of Water and Steam (IAPWS) 1995 formulation for the thermodynamic properties of water and the most recent IAPWS formulations for transport and other properties, this updated version provides water properties over a wide range of conditions according to the accepted international standards.

  1. Human mapping databases.

    PubMed

    Talbot, C; Cuticchia, A J

    2001-05-01

    This unit concentrates on the data contained within two human genome databasesGDB (Genome Database) and OMIM (Online Mendelian Inheritance in Man)and includes discussion of different methods for submitting and accessing data. An understanding of electronic mail, FTP, and the use of a World Wide Web (WWW) navigational tool such as Netscape or Internet Explorer is a prerequisite for utilizing the information in this unit.

  2. The ribosomal database project.

    PubMed

    Larsen, N; Olsen, G J; Maidak, B L; McCaughey, M J; Overbeek, R; Macke, T J; Marsh, T L; Woese, C R

    1993-07-01

    The Ribosomal Database Project (RDP) is a curated database that offers ribosome data along with related programs and services. The offerings include phylogenetically ordered alignments of ribosomal RNA (rRNA) sequences, derived phylogenetic trees, rRNA secondary structure diagrams and various software packages for handling, analyzing and displaying alignments and trees. The data are available via ftp and electronic mail. Certain analytic services are also provided by the electronic mail server.

  3. The ribosomal database project.

    PubMed Central

    Larsen, N; Olsen, G J; Maidak, B L; McCaughey, M J; Overbeek, R; Macke, T J; Marsh, T L; Woese, C R

    1993-01-01

    The Ribosomal Database Project (RDP) is a curated database that offers ribosome data along with related programs and services. The offerings include phylogenetically ordered alignments of ribosomal RNA (rRNA) sequences, derived phylogenetic trees, rRNA secondary structure diagrams and various software packages for handling, analyzing and displaying alignments and trees. The data are available via ftp and electronic mail. Certain analytic services are also provided by the electronic mail server. PMID:8332524

  4. The Transporter Classification Database

    PubMed Central

    Saier, Milton H.; Reddy, Vamsee S.; Tamang, Dorjee G.; Västermark, Åke

    2014-01-01

    The Transporter Classification Database (TCDB; http://www.tcdb.org) serves as a common reference point for transport protein research. The database contains more than 10 000 non-redundant proteins that represent all currently recognized families of transmembrane molecular transport systems. Proteins in TCDB are organized in a five level hierarchical system, where the first two levels are the class and subclass, the second two are the family and subfamily, and the last one is the transport system. Superfamilies that contain multiple families are included as hyperlinks to the five tier TC hierarchy. TCDB includes proteins from all types of living organisms and is the only transporter classification system that is both universal and recognized by the International Union of Biochemistry and Molecular Biology. It has been expanded by manual curation, contains extensive text descriptions providing structural, functional, mechanistic and evolutionary information, is supported by unique software and is interconnected to many other relevant databases. TCDB is of increasing usefulness to the international scientific community and can serve as a model for the expansion of database technologies. This manuscript describes an update of the database descriptions previously featured in NAR database issues. PMID:24225317

  5. Specialist Bibliographic Databases

    PubMed Central

    2016-01-01

    Specialist bibliographic databases offer essential online tools for researchers and authors who work on specific subjects and perform comprehensive and systematic syntheses of evidence. This article presents examples of the established specialist databases, which may be of interest to those engaged in multidisciplinary science communication. Access to most specialist databases is through subscription schemes and membership in professional associations. Several aggregators of information and database vendors, such as EBSCOhost and ProQuest, facilitate advanced searches supported by specialist keyword thesauri. Searches of items through specialist databases are complementary to those through multidisciplinary research platforms, such as PubMed, Web of Science, and Google Scholar. Familiarizing with the functional characteristics of biomedical and nonbiomedical bibliographic search tools is mandatory for researchers, authors, editors, and publishers. The database users are offered updates of the indexed journal lists, abstracts, author profiles, and links to other metadata. Editors and publishers may find particularly useful source selection criteria and apply for coverage of their peer-reviewed journals and grey literature sources. These criteria are aimed at accepting relevant sources with established editorial policies and quality controls. PMID:27134485

  6. Specialist Bibliographic Databases.

    PubMed

    Gasparyan, Armen Yuri; Yessirkepov, Marlen; Voronov, Alexander A; Trukhachev, Vladimir I; Kostyukova, Elena I; Gerasimov, Alexey N; Kitas, George D

    2016-05-01

    Specialist bibliographic databases offer essential online tools for researchers and authors who work on specific subjects and perform comprehensive and systematic syntheses of evidence. This article presents examples of the established specialist databases, which may be of interest to those engaged in multidisciplinary science communication. Access to most specialist databases is through subscription schemes and membership in professional associations. Several aggregators of information and database vendors, such as EBSCOhost and ProQuest, facilitate advanced searches supported by specialist keyword thesauri. Searches of items through specialist databases are complementary to those through multidisciplinary research platforms, such as PubMed, Web of Science, and Google Scholar. Familiarizing with the functional characteristics of biomedical and nonbiomedical bibliographic search tools is mandatory for researchers, authors, editors, and publishers. The database users are offered updates of the indexed journal lists, abstracts, author profiles, and links to other metadata. Editors and publishers may find particularly useful source selection criteria and apply for coverage of their peer-reviewed journals and grey literature sources. These criteria are aimed at accepting relevant sources with established editorial policies and quality controls.

  7. National Database of Geriatrics.

    PubMed

    Kannegaard, Pia Nimann; Vinding, Kirsten L; Hare-Bruun, Helle

    2016-01-01

    The aim of the National Database of Geriatrics is to monitor the quality of interdisciplinary diagnostics and treatment of patients admitted to a geriatric hospital unit. The database population consists of patients who were admitted to a geriatric hospital unit. Geriatric patients cannot be defined by specific diagnoses. A geriatric patient is typically a frail multimorbid elderly patient with decreasing functional ability and social challenges. The database includes 14-15,000 admissions per year, and the database completeness has been stable at 90% during the past 5 years. An important part of the geriatric approach is the interdisciplinary collaboration. Indicators, therefore, reflect the combined efforts directed toward the geriatric patient. The indicators include Barthel index, body mass index, de Morton Mobility Index, Chair Stand, percentage of discharges with a rehabilitation plan, and the part of cases where an interdisciplinary conference has taken place. Data are recorded by doctors, nurses, and therapists in a database and linked to the Danish National Patient Register. Descriptive patient-related data include information about home, mobility aid, need of fall and/or cognitive diagnosing, and categorization of cause (general geriatric, orthogeriatric, or neurogeriatric). The National Database of Geriatrics covers ∼90% of geriatric admissions in Danish hospitals and provides valuable information about a large and increasing patient population in the health care system.

  8. Drinking Water Database

    NASA Technical Reports Server (NTRS)

    Murray, ShaTerea R.

    2004-01-01

    This summer I had the opportunity to work in the Environmental Management Office (EMO) under the Chemical Sampling and Analysis Team or CS&AT. This team s mission is to support Glenn Research Center (GRC) and EM0 by providing chemical sampling and analysis services and expert consulting. Services include sampling and chemical analysis of water, soil, fbels, oils, paint, insulation materials, etc. One of this team s major projects is the Drinking Water Project. This is a project that is done on Glenn s water coolers and ten percent of its sink every two years. For the past two summers an intern had been putting together a database for this team to record the test they had perform. She had successfully created a database but hadn't worked out all the quirks. So this summer William Wilder (an intern from Cleveland State University) and I worked together to perfect her database. We began be finding out exactly what every member of the team thought about the database and what they would change if any. After collecting this data we both had to take some courses in Microsoft Access in order to fix the problems. Next we began looking at what exactly how the database worked from the outside inward. Then we began trying to change the database but we quickly found out that this would be virtually impossible.

  9. The comprehensive peptaibiotics database.

    PubMed

    Stoppacher, Norbert; Neumann, Nora K N; Burgstaller, Lukas; Zeilinger, Susanne; Degenkolb, Thomas; Brückner, Hans; Schuhmacher, Rainer

    2013-05-01

    Peptaibiotics are nonribosomally biosynthesized peptides, which - according to definition - contain the marker amino acid α-aminoisobutyric acid (Aib) and possess antibiotic properties. Being known since 1958, a constantly increasing number of peptaibiotics have been described and investigated with a particular emphasis on hypocrealean fungi. Starting from the existing online 'Peptaibol Database', first published in 1997, an exhaustive literature survey of all known peptaibiotics was carried out and resulted in a list of 1043 peptaibiotics. The gathered information was compiled and used to create the new 'The Comprehensive Peptaibiotics Database', which is presented here. The database was devised as a software tool based on Microsoft (MS) Access. It is freely available from the internet at http://peptaibiotics-database.boku.ac.at and can easily be installed and operated on any computer offering a Windows XP/7 environment. It provides useful information on characteristic properties of the peptaibiotics included such as peptide category, group name of the microheterogeneous mixture to which the peptide belongs, amino acid sequence, sequence length, producing fungus, peptide subfamily, molecular formula, and monoisotopic mass. All these characteristics can be used and combined for automated search within the database, which makes The Comprehensive Peptaibiotics Database a versatile tool for the retrieval of valuable information about peptaibiotics. Sequence data have been considered as to December 14, 2012.

  10. Crude Oil Analysis Database

    DOE Data Explorer

    Shay, Johanna Y.

    The composition and physical properties of crude oil vary widely from one reservoir to another within an oil field, as well as from one field or region to another. Although all oils consist of hydrocarbons and their derivatives, the proportions of various types of compounds differ greatly. This makes some oils more suitable than others for specific refining processes and uses. To take advantage of this diversity, one needs access to information in a large database of crude oil analyses. The Crude Oil Analysis Database (COADB) currently satisfies this need by offering 9,056 crude oil analyses. Of these, 8,500 are United States domestic oils. The database contains results of analysis of the general properties and chemical composition, as well as the field, formation, and geographic location of the crude oil sample. [Taken from the Introduction to COAMDATA_DESC.pdf, part of the zipped software and database file at http://www.netl.doe.gov/technologies/oil-gas/Software/database.html] Save the zipped file to your PC. When opened, it will contain PDF documents and a large Excel spreadsheet. It will also contain the database in Microsoft Access 2002.

  11. ClinVar: public archive of interpretations of clinically relevant variants.

    PubMed

    Landrum, Melissa J; Lee, Jennifer M; Benson, Mark; Brown, Garth; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Hoover, Jeffrey; Jang, Wonhee; Katz, Kenneth; Ovetsky, Michael; Riley, George; Sethi, Amanjeev; Tully, Ray; Villamarin-Salomon, Ricardo; Rubinstein, Wendy; Maglott, Donna R

    2016-01-04

    ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.

  12. A motivated action theory account of goal orientation.

    PubMed

    DeShon, Richard P; Gillespie, Jennifer Z

    2005-11-01

    Rapid organizational change is increasing the pressure on employees to continually update their skills and adapt their behavior to new organizational realities. Goal orientation is a promising motivational construct that may explain why some individuals adapt to change better. Unfortunately, the current goal orientation literature is in a state of conceptual and methodological disarray. This presentation reviews the goal orientation literature and identifies numerous conceptual ambiguities, including definitional inconsistencies, dimensional inconsistencies, and inconsistencies in the conceptualization of stability. These conceptual ambiguities result in a confusing array of goal orientation measures and manipulations and ultimately an incoherent empirical database. A dynamic self-regulation model of goal orientation, termed motivated action theory, is presented to integrate the various conceptual perspectives and to provide guidelines for future goal orientation research.

  13. Crystal orientation mapping via ion channeling: An alternative to EBSD.

    PubMed

    Langlois, C; Douillard, T; Yuan, H; Blanchard, N P; Descamps-Mandine, A; Van de Moortèle, B; Rigotti, C; Epicier, T

    2015-10-01

    A new method, which we name ion CHanneling ORientation Determination (iCHORD), is proposed to obtain orientation maps on polycrystals via ion channeling. The iChord method exploits the dependence between grain orientation and ion beam induced secondary electron image contrast. At each position of the region of interest, intensity profiles are obtained from a series of images acquired with different orientations with respect to the ion beam. The profiles are then compared to a database of theoretical profiles of known orientation. The Euler triplet associated to the most similar theoretical profile gives the orientation at that position. The proof-of-concept is obtained on a titanium nitride sample. The potentialities of iCHORD as an alternative to EBSD are then discussed. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Adolescent sexual orientation.

    PubMed

    Spigarelli, Michael G

    2007-12-01

    Sexual orientation has been defined as the patterns of sexual thoughts, fantasies, and attractions that an individual has toward other persons of the same or opposite gender. Throughout childhood and approaching adolescence, children try to understand their own sexuality and sexual orientation in the context of the society in which they live. Typically, this attempt to understand first occurs in thoughts of a sexual nature and later through actions, usually before sexual orientation is clearly defined. How these experiences are handled, by the individual and close friends and relatives, helps to define how an individual views and accepts their sexual orientation ultimately as an adult.

  15. Databases: Peter's Picks and Pans.

    ERIC Educational Resources Information Center

    Jacso, Peter

    1995-01-01

    Reviews the best and worst in databases on disk, CD-ROM, and online, and offers judgments and observations on database characteristics. Two databases are praised and three are criticized. (Author/JMV)

  16. Databases: Peter's Picks and Pans.

    ERIC Educational Resources Information Center

    Jacso, Peter

    1995-01-01

    Reviews the best and worst in databases on disk, CD-ROM, and online, and offers judgments and observations on database characteristics. Two databases are praised and three are criticized. (Author/JMV)

  17. Great Basin paleontological database

    USGS Publications Warehouse

    Zhang, N.; Blodgett, R.B.; Hofstra, A.H.

    2008-01-01

    The U.S. Geological Survey has constructed a paleontological database for the Great Basin physiographic province that can be served over the World Wide Web for data entry, queries, displays, and retrievals. It is similar to the web-database solution that we constructed for Alaskan paleontological data (www.alaskafossil.org). The first phase of this effort was to compile a paleontological bibliography for Nevada and portions of adjacent states in the Great Basin that has recently been completed. In addition, we are also compiling paleontological reports (Known as E&R reports) of the U.S. Geological Survey, which are another extensive source of l,egacy data for this region. Initial population of the database benefited from a recently published conodont data set and is otherwise focused on Devonian and Mississippian localities because strata of this age host important sedimentary exhalative (sedex) Au, Zn, and barite resources and enormons Carlin-type An deposits. In addition, these strata are the most important petroleum source rocks in the region, and record the transition from extension to contraction associated with the Antler orogeny, the Alamo meteorite impact, and biotic crises associated with global oceanic anoxic events. The finished product will provide an invaluable tool for future geologic mapping, paleontological research, and mineral resource investigations in the Great Basin, making paleontological data acquired over nearly the past 150 yr readily available over the World Wide Web. A description of the structure of the database and the web interface developed for this effort are provided herein. This database is being used ws a model for a National Paleontological Database (which we am currently developing for the U.S. Geological Survey) as well as for other paleontological databases now being developed in other parts of the globe. ?? 2008 Geological Society of America.

  18. Phonological variant recognition: representations and rules.

    PubMed

    Pinnow, Eleni; Connine, Cynthia M

    2014-03-01

    The current research explores the role of lexical representations and processing in the recognition of phonological variants. Two alternative approaches for variant recognition are considered: a representational approach that posits frequency-graded lexical representations for variant forms and inferential processes that mediate between the spoken variant and the lexical representation. In a lexical decision task (Experiment 1) and in a phoneme identification task (Experiment 2) using real words, low-frequency variants, but not high-frequency variants, show improved recognition rates following additional experience with the variants. This knowledge generalized to novel variant forms. Experiment 3 replicated these results using an artificial lexicon and showed that recognition of low-frequency variants was influenced by similarity to a high-frequency variant form. Similarity to a high-frequency variant alone, however, was insufficient to explain recognition of the infrequent variants (Experiments 4 and 5). The results support a hybrid account of variant recognition that relies on both multiple frequency-graded representations and inference processes.

  19. RHD variants in Flanders, Belgium.

    PubMed

    Van Sandt, Vicky S T; Gassner, Christoph; Emonds, Marie-Paule; Legler, Tobias J; Mahieu, Sarah; Körmöczi, Günther F

    2015-06-01

    D antigen variants may be grouped into partial D, weak D, and DEL types. Cumulative phenotype frequencies of these D variants may approach 1% in certain European regions. Unambiguous and quick identification of D variants is of immediate clinical relevance, with implications for transfusion strategy. A total of 628 samples with ambiguous serologic results from different immunohematology laboratories throughout the Flanders region, Belgium, were genotyped using a commercially available weak D typing approach. After exclusion of detectable weak D types, molecular RHD exon scanning was performed for the remaining samples, and RHD sequencing was performed in two particular cases. Of all samples investigated, 424 (67.5%) were positive for weak D Type 1, 2, or 3, and 22 cases (3.5%) typed weak D Type 4.0/4.1/4.3, 4.2, 5, 11, 15, or 17. Another 49 (7.8%) samples were partial D variants, with a major proportion being category DVI types (n = 27). One RHD(S103P) sample was identified as high-grade partial D, with DIII-like phenotype and anti-D and anti-C immunization. Additionally, a novel DVI Type 3 (A399T) variant was found. Of the remaining 133 samples mainly tested because of ambiguous serologic D typing results due to recent transfusion, 32 (5.1%) were negative for RHD, and 101 (16.1%) were indistinguishable from wild-type RHD and not investigated further. Despite the enormous diversity of RHD alleles, first-line weak D genotyping was remarkably informative, allowing for rapid classification of most samples with conspicuous RhD phenotype in Flanders. The clinical implications are discussed. © 2014 AABB.

  20. SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features

    PubMed Central

    Yates, Christopher M.; Filippis, Ioannis; Kelley, Lawrence A.; Sternberg, Michael J.E.

    2014-01-01

    Whole-genome and exome sequencing studies reveal many genetic variants between individuals, some of which are linked to disease. Many of these variants lead to single amino acid variants (SAVs), and accurate prediction of their phenotypic impact is important. Incorporating sequence conservation and network-level features, we have developed a method, SuSPect (Disease-Susceptibility-based SAV Phenotype Prediction), for predicting how likely SAVs are to be associated with disease. SuSPect performs significantly better than other available batch methods on the VariBench benchmarking dataset, with a balanced accuracy of 82%. SuSPect is available at www.sbg.bio.ic.ac.uk/suspect. The Web site has been implemented in Perl and SQLite and is compatible with modern browsers. An SQLite database of possible missense variants in the human proteome is available to download at www.sbg.bio.ic.ac.uk/suspect/download.html. PMID:24810707

  1. SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features.

    PubMed

    Yates, Christopher M; Filippis, Ioannis; Kelley, Lawrence A; Sternberg, Michael J E

    2014-07-15

    Whole-genome and exome sequencing studies reveal many genetic variants between individuals, some of which are linked to disease. Many of these variants lead to single amino acid variants (SAVs), and accurate prediction of their phenotypic impact is important. Incorporating sequence conservation and network-level features, we have developed a method, SuSPect (Disease-Susceptibility-based SAV Phenotype Prediction), for predicting how likely SAVs are to be associated with disease. SuSPect performs significantly better than other available batch methods on the VariBench benchmarking dataset, with a balanced accuracy of 82%. SuSPect is available at www.sbg.bio.ic.ac.uk/suspect. The Web site has been implemented in Perl and SQLite and is compatible with modern browsers. An SQLite database of possible missense variants in the human proteome is available to download at www.sbg.bio.ic.ac.uk/suspect/download.html. Copyright © 2014. Published by Elsevier Ltd.

  2. NASA Records Database

    NASA Technical Reports Server (NTRS)

    Callac, Christopher; Lunsford, Michelle

    2005-01-01

    The NASA Records Database, comprising a Web-based application program and a database, is used to administer an archive of paper records at Stennis Space Center. The system begins with an electronic form, into which a user enters information about records that the user is sending to the archive. The form is smart : it provides instructions for entering information correctly and prompts the user to enter all required information. Once complete, the form is digitally signed and submitted to the database. The system determines which storage locations are not in use, assigns the user s boxes of records to some of them, and enters these assignments in the database. Thereafter, the software tracks the boxes and can be used to locate them. By use of search capabilities of the software, specific records can be sought by box storage locations, accession numbers, record dates, submitting organizations, or details of the records themselves. Boxes can be marked with such statuses as checked out, lost, transferred, and destroyed. The system can generate reports showing boxes awaiting destruction or transfer. When boxes are transferred to the National Archives and Records Administration (NARA), the system can automatically fill out NARA records-transfer forms. Currently, several other NASA Centers are considering deploying the NASA Records Database to help automate their records archives.

  3. FishTraits Database

    USGS Publications Warehouse

    Angermeier, Paul L.; Frimpong, Emmanuel A.

    2009-01-01

    The need for integrated and widely accessible sources of species traits data to facilitate studies of ecology, conservation, and management has motivated development of traits databases for various taxa. In spite of the increasing number of traits-based analyses of freshwater fishes in the United States, no consolidated database of traits of this group exists publicly, and much useful information on these species is documented only in obscure sources. The largely inaccessible and unconsolidated traits information makes large-scale analysis involving many fishes and/or traits particularly challenging. FishTraits is a database of >100 traits for 809 (731 native and 78 exotic) fish species found in freshwaters of the conterminous United States, including 37 native families and 145 native genera. The database contains information on four major categories of traits: (1) trophic ecology, (2) body size and reproductive ecology (life history), (3) habitat associations, and (4) salinity and temperature tolerances. Information on geographic distribution and conservation status is also included. Together, we refer to the traits, distribution, and conservation status information as attributes. Descriptions of attributes are available here. Many sources were consulted to compile attributes, including state and regional species accounts and other databases.

  4. Shuttle Hypervelocity Impact Database

    NASA Technical Reports Server (NTRS)

    Hyde, James L.; Christiansen, Eric L.; Lear, Dana M.

    2011-01-01

    With three missions outstanding, the Shuttle Hypervelocity Impact Database has nearly 3000 entries. The data is divided into tables for crew module windows, payload bay door radiators and thermal protection system regions, with window impacts compromising just over half the records. In general, the database provides dimensions of hypervelocity impact damage, a component level location (i.e., window number or radiator panel number) and the orbiter mission when the impact occurred. Additional detail on the type of particle that produced the damage site is provided when sampling data and definitive analysis results are available. Details and insights on the contents of the database including examples of descriptive statistics will be provided. Post flight impact damage inspection and sampling techniques that were employed during the different observation campaigns will also be discussed. Potential enhancements to the database structure and availability of the data for other researchers will be addressed in the Future Work section. A related database of returned surfaces from the International Space Station will also be introduced.

  5. Shuttle Hypervelocity Impact Database

    NASA Technical Reports Server (NTRS)

    Hyde, James I.; Christiansen, Eric I.; Lear, Dana M.

    2011-01-01

    With three flights remaining on the manifest, the shuttle impact hypervelocity database has over 2800 entries. The data is currently divided into tables for crew module windows, payload bay door radiators and thermal protection system regions, with window impacts compromising just over half the records. In general, the database provides dimensions of hypervelocity impact damage, a component level location (i.e., window number or radiator panel number) and the orbiter mission when the impact occurred. Additional detail on the type of particle that produced the damage site is provided when sampling data and definitive analysis results are available. The paper will provide details and insights on the contents of the database including examples of descriptive statistics using the impact data. A discussion of post flight impact damage inspection and sampling techniques that were employed during the different observation campaigns will be presented. Future work to be discussed will be possible enhancements to the database structure and availability of the data for other researchers. A related database of ISS returned surfaces that are under development will also be introduced.

  6. Shuttle Hypervelocity Impact Database

    NASA Technical Reports Server (NTRS)

    Hyde, James L.; Christiansen, Eric L.; Lear, Dana M.

    2011-01-01

    With three missions outstanding, the Shuttle Hypervelocity Impact Database has nearly 3000 entries. The data is divided into tables for crew module windows, payload bay door radiators and thermal protection system regions, with window impacts compromising just over half the records. In general, the database provides dimensions of hypervelocity impact damage, a component level location (i.e., window number or radiator panel number) and the orbiter mission when the impact occurred. Additional detail on the type of particle that produced the damage site is provided when sampling data and definitive analysis results are available. Details and insights on the contents of the database including examples of descriptive statistics will be provided. Post flight impact damage inspection and sampling techniques that were employed during the different observation campaigns will also be discussed. Potential enhancements to the database structure and availability of the data for other researchers will be addressed in the Future Work section. A related database of returned surfaces from the International Space Station will also be introduced.

  7. ADANS database specification

    SciTech Connect

    1997-01-16

    The purpose of the Air Mobility Command (AMC) Deployment Analysis System (ADANS) Database Specification (DS) is to describe the database organization and storage allocation and to provide the detailed data model of the physical design and information necessary for the construction of the parts of the database (e.g., tables, indexes, rules, defaults). The DS includes entity relationship diagrams, table and field definitions, reports on other database objects, and a description of the ADANS data dictionary. ADANS is the automated system used by Headquarters AMC and the Tanker Airlift Control Center (TACC) for airlift planning and scheduling of peacetime and contingency operations as well as for deliberate planning. ADANS also supports planning and scheduling of Air Refueling Events by the TACC and the unit-level tanker schedulers. ADANS receives input in the form of movement requirements and air refueling requests. It provides a suite of tools for planners to manipulate these requirements/requests against mobility assets and to develop, analyze, and distribute schedules. Analysis tools are provided for assessing the products of the scheduling subsystems, and editing capabilities support the refinement of schedules. A reporting capability provides formatted screen, print, and/or file outputs of various standard reports. An interface subsystem handles message traffic to and from external systems. The database is an integral part of the functionality summarized above.

  8. The Chandra Bibliography Database

    NASA Astrophysics Data System (ADS)

    Rots, A. H.; Winkelman, S. L.; Paltani, S.; Blecksmith, S. E.; Bright, J. D.

    2004-07-01

    Early in the mission, the Chandra Data Archive started the development of a bibliography database, tracking publications in refereed journals and on-line conference proceedings that are based on Chandra observations, allowing our users to link directly to articles in the ADS from our archive, and to link to the relevant data in the archive from the ADS entries. Subsequently, we have been working closely with the ADS and other data centers, in the context of the ADEC-ITWG, on standardizing the literature-data linking. We have also extended our bibliography database to include all Chandra-related articles and we are also keeping track of the number of citations of each paper. Obviously, in addition to providing valuable services to our users, this database allows us to extract a wide variety of statistical information. The project comprises five components: the bibliography database-proper, a maintenance database, an interactive maintenance tool, a user browsing interface, and a web services component for exchanging information with the ADS. All of these elements are nearly mission-independent and we intend make the package as a whole available for use by other data centers. The capabilities thus provided represent support for an essential component of the Virtual Observatory.

  9. Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians

    PubMed Central

    Freudenberg-Hua, Yun; Li, Wentian; Abhyankar, Avinash; Vacic, Vladimir; Cortes, Vanessa; Ben-Avraham, Danny; Koppel, Jeremy; Greenwald, Blaine; Germer, Soren; Darnell, Robert B.; Barzilai, Nir; Freudenberg, Jan; Atzmon, Gil; Davies, Peter

    2016-01-01

    We compared coding region variants of 53 cognitively healthy centenarians and 45 patients with Alzheimer’s disease (AD), all of Ashkenazi Jewish (AJ) ancestry. Despite the small sample size, the known AD risk variant APOE4 reached genome-wide significance, indicating the advantage of utilizing ‘super-controls’. We restricted our subsequent analysis to rare variants observed at most once in the 1000 Genomes database and having a minor allele frequency below 2% in our AJ sample. We compared the burden of predicted protein altering variants between cases and controls as normalized by the level of rare synonymous variants. We observed an increased burden among AD subjects for predicted loss-of-function (LoFs) variants defined as stop-gain, frame shift, initiation codon (INIT) and splice site mutations (n = 930, OR = 1.3, P = 1.5×E−5). There was no enrichment across all rare protein altering variants defined as missense plus LoFs, in frame indels and stop-loss variants (n = 13 014, OR = 0.97, P = 0.47). Among LoFs, the strongest burden was observed for INIT (OR = 2.16, P = 0.0097) and premature stop variants predicted to cause non-sense-mediated decay in the majority of transcripts (NMD) (OR = 1.98, P = 0.02). Notably, this increased burden of NMD, INIT and splice variants was more pronounced in a set of 1397 innate immune genes (OR = 4.55, P = 0.0043). Further comparison to additional exomes indicates that the difference in LoF burden originated both from the AD and centenarian sample. In summary, we observed an overall increased burden of rare LoFs in AD subjects as compared to centenarians, and this enrichment is more pronounced for innate immune genes. PMID:27260402

  10. Swine Influenza/Variant Influenza Viruses

    MedlinePlus

    ... Variant Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend on Facebook ... disease of pigs caused by type A influenza viruses that regularly cause outbreaks of influenza in pigs. ...

  11. Interactive Computerized Video Orientation.

    ERIC Educational Resources Information Center

    Briesacker, Jeanie

    In response to California State Assembly Bill (AB) 3, which requires the state's community colleges to implement orientations and other specified matriculation services, Fullerton College (FC) developed two orientation videos in 1989 for native speakers of English and English-as-a-Second Language (ESL) students. The videos were used by counselors…

  12. Edward Said and "Orientalism"

    ERIC Educational Resources Information Center

    Chronicle of Higher Education, 2007

    2007-01-01

    In the nearly 30 years since Edward Said published the hugely influential Orientalism, his indictment of racism and imperialism in Western scholarship on the Orient has had its share of plaudits and condemnations. Now Robert Irwin, the Middle East editor of The Times Literary Supplement, has reignited the controversy with his broadside against the…

  13. Teaching Orienteering. Second Edition.

    ERIC Educational Resources Information Center

    McNeill, Carol; Cory-Wright, Jean; Renfrew, Tom

    The educational value provided by orienteering's blend of navigational and physical skills has given it a permanent place in the primary and secondary school curriculum in the United Kingdom. This book is a reference to orienteering for teachers, leaders, and coaches. It provides a "how to" approach to introducing and developing the…

  14. Decision Making In Orienteering.

    ERIC Educational Resources Information Center

    Almeida, Katia

    1997-01-01

    Eight psychometric instruments were administered to 10 elite male Portuguese orienteers. The cognitive process involved in decision making did not differ between the best orienteers and the others. This group of athletes had a high capacity for work realization and a strong need to be in control of interpersonal situations. (Author/SV)

  15. Teaching Orienteering. Second Edition.

    ERIC Educational Resources Information Center

    McNeill, Carol; Cory-Wright, Jean; Renfrew, Tom

    The educational value provided by orienteering's blend of navigational and physical skills has given it a permanent place in the primary and secondary school curriculum in the United Kingdom. This book is a reference to orienteering for teachers, leaders, and coaches. It provides a "how to" approach to introducing and developing the…

  16. Orienteering in Camping.

    ERIC Educational Resources Information Center

    Larson, Elston F.

    One of the recent developments in camping is "orienteering", a program using a map and compass. Orienteering can be dovetailed into an overall camping program and used to "point up" the entire program, or it can be confined to a single simple game. The arrangement depends on the situation. The minimum age of the participants should be about 9 or…

  17. Open Geoscience Database

    NASA Astrophysics Data System (ADS)

    Bashev, A.

    2012-04-01

    Currently there is an enormous amount of various geoscience databases. Unfortunately the only users of the majority of the databases are their elaborators. There are several reasons for that: incompaitability, specificity of tasks and objects and so on. However the main obstacles for wide usage of geoscience databases are complexity for elaborators and complication for users. The complexity of architecture leads to high costs that block the public access. The complication prevents users from understanding when and how to use the database. Only databases, associated with GoogleMaps don't have these drawbacks, but they could be hardly named "geoscience" Nevertheless, open and simple geoscience database is necessary at least for educational purposes (see our abstract for ESSI20/EOS12). We developed a database and web interface to work with them and now it is accessible at maps.sch192.ru. In this database a result is a value of a parameter (no matter which) in a station with a certain position, associated with metadata: the date when the result was obtained; the type of a station (lake, soil etc); the contributor that sent the result. Each contributor has its own profile, that allows to estimate the reliability of the data. The results can be represented on GoogleMaps space image as a point in a certain position, coloured according to the value of the parameter. There are default colour scales and each registered user can create the own scale. The results can be also extracted in *.csv file. For both types of representation one could select the data by date, object type, parameter type, area and contributor. The data are uploaded in *.csv format: Name of the station; Lattitude(dd.dddddd); Longitude(ddd.dddddd); Station type; Parameter type; Parameter value; Date(yyyy-mm-dd). The contributor is recognised while entering. This is the minimal set of features that is required to connect a value of a parameter with a position and see the results. All the complicated data

  18. Imprecision and Uncertainty in the UFO Database Model.

    ERIC Educational Resources Information Center

    Van Gyseghem, Nancy; De Caluwe, Rita

    1998-01-01

    Discusses how imprecision and uncertainty are dealt with in the UFO (Uncertainty and Fuzziness in an Object-oriented) database model. Such information is expressed by means of possibility distributions, and modeled by means of the proposed concept of "role objects." The role objects model uncertain, tentative information about objects,…

  19. Imprecision and Uncertainty in the UFO Database Model.

    ERIC Educational Resources Information Center

    Van Gyseghem, Nancy; De Caluwe, Rita

    1998-01-01

    Discusses how imprecision and uncertainty are dealt with in the UFO (Uncertainty and Fuzziness in an Object-oriented) database model. Such information is expressed by means of possibility distributions, and modeled by means of the proposed concept of "role objects." The role objects model uncertain, tentative information about objects,…

  20. Statistical Profile of Currently Available CD-ROM Database Products.

    ERIC Educational Resources Information Center

    Nicholls, Paul Travis

    1988-01-01

    Survey of currently available CD-ROM products discusses: (1) subject orientation; (2) database type; (3) update frequency; (4) price structure; (5) hardware configuration; (6) retrieval software; and (7) publisher/marketer. Several graphs depict data in these areas. (five references) (MES)

  1. ARTI Refrigerant Database

    SciTech Connect

    Calm, J.M.

    1992-04-30

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern. The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air- conditioning and refrigeration equipment. The complete documents are not included, though some may be added at a later date. The database identifies sources of specific information on R-32, R-123, R-124, R- 125, R-134a, R-141b, R142b, R-143a, R-152a, R-290 (propane), R-717 (ammonia), ethers, and others as well as azeotropic and zeotropic blends of these fluids. It addresses polyalkylene glycol (PAG), ester, and other lubricants. It also references documents addressing compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits.

  2. Medical database security evaluation.

    PubMed

    Pangalos, G J

    1993-01-01

    Users of medical information systems need confidence in the security of the system they are using. They also need a method to evaluate and compare its security capabilities. Every system has its own requirements for maintaining confidentiality, integrity and availability. In order to meet these requirements a number of security functions must be specified covering areas such as access control, auditing, error recovery, etc. Appropriate confidence in these functions is also required. The 'trust' in trusted computer systems rests on their ability to prove that their secure mechanisms work as advertised and cannot be disabled or diverted. The general framework and requirements for medical database security and a number of parameters of the evaluation problem are presented and discussed. The problem of database security evaluation is then discussed, and a number of specific proposals are presented, based on a number of existing medical database security systems.

  3. The PROSITE database

    PubMed Central

    Hulo, Nicolas; Bairoch, Amos; Bulliard, Virginie; Cerutti, Lorenzo; De Castro, Edouard; Langendijk-Genevaux, Petra S.; Pagni, Marco; Sigrist, Christian J. A.

    2006-01-01

    The PROSITE database consists of a large collection of biologically meaningful signatures that are described as patterns or profiles. Each signature is linked to a documentation that provides useful biological information on the protein family, domain or functional site identified by the signature. The PROSITE database is now complemented by a series of rules that can give more precise information about specific residues. During the last 2 years, the documentation and the ScanProsite web pages were redesigned to add more functionalities. The latest version of PROSITE (release 19.11 of September 27, 2005) contains 1329 patterns and 552 profile entries. Over the past 2 years more than 200 domains have been added, and now 52% of UniProtKB/Swiss-Prot entries (release 48.1 of September 27, 2005) have a cross-reference to a PROSITE entry. The database is accessible at . PMID:16381852

  4. National Ambient Radiation Database

    SciTech Connect

    Dziuban, J.; Sears, R.

    2003-02-25

    The U.S. Environmental Protection Agency (EPA) recently developed a searchable database and website for the Environmental Radiation Ambient Monitoring System (ERAMS) data. This site contains nationwide radiation monitoring data for air particulates, precipitation, drinking water, surface water and pasteurized milk. This site provides location-specific as well as national information on environmental radioactivity across several media. It provides high quality data for assessing public exposure and environmental impacts resulting from nuclear emergencies and provides baseline data during routine conditions. The database and website are accessible at www.epa.gov/enviro/. This site contains (1) a query for the general public which is easy to use--limits the amount of information provided, but includes the ability to graph the data with risk benchmarks and (2) a query for a more technical user which allows access to all of the data in the database, (3) background information on ER AMS.

  5. Enhancing medical database semantics.

    PubMed Central

    Leão, B. de F.; Pavan, A.

    1995-01-01

    Medical Databases deal with dynamic, heterogeneous and fuzzy data. The modeling of such complex domain demands powerful semantic data modeling methodologies. This paper describes GSM-Explorer a Case Tool that allows for the creation of relational databases using semantic data modeling techniques. GSM Explorer fully incorporates the Generic Semantic Data Model-GSM enabling knowledge engineers to model the application domain with the abstraction mechanisms of generalization/specialization, association and aggregation. The tool generates a structure that implements persistent database-objects through the automatic generation of customized SQL ANSI scripts that sustain the semantics defined in the higher lever. This paper emphasizes the system architecture and the mapping of the semantic model into relational tables. The present status of the project and its further developments are discussed in the Conclusions. PMID:8563288

  6. Mouse genome database 2016

    PubMed Central

    Bult, Carol J.; Eppig, Janan T.; Blake, Judith A.; Kadin, James A.; Richardson, Joel E.

    2016-01-01

    The Mouse Genome Database (MGD; http://www.informatics.jax.org) is the primary community model organism database for the laboratory mouse and serves as the source for key biological reference data related to mouse genes, gene functions, phenotypes and disease models with a strong emphasis on the relationship of these data to human biology and disease. As the cost of genome-scale sequencing continues to decrease and new technologies for genome editing become widely adopted, the laboratory mouse is more important than ever as a model system for understanding the biological significance of human genetic variation and for advancing the basic research needed to support the emergence of genome-guided precision medicine. Recent enhancements to MGD include new graphical summaries of biological annotations for mouse genes, support for mobile access to the database, tools to support the annotation and analysis of sets of genes, and expanded support for comparative biology through the expansion of homology data. PMID:26578600

  7. Computer Databases: A Survey; Part 1: General and News Databases.

    ERIC Educational Resources Information Center

    O'Leary, Mick

    1986-01-01

    Descriptions and evaluations of 13 databases devoted to computer information are presented by type under four headings: bibliographic databases; daily news services; online computer magazines; and specialized computer industry databases. Information on database producers, starting date of file, update frequency, vendors, and prices is summarized…

  8. The Neotoma Paleoecology Database

    NASA Astrophysics Data System (ADS)

    Grimm, E. C.; Ashworth, A. C.; Barnosky, A. D.; Betancourt, J. L.; Bills, B.; Booth, R.; Blois, J.; Charles, D. F.; Graham, R. W.; Goring, S. J.; Hausmann, S.; Smith, A. J.; Williams, J. W.; Buckland, P.

    2015-12-01

    The Neotoma Paleoecology Database (www.neotomadb.org) is a multiproxy, open-access, relational database that includes fossil data for the past 5 million years (the late Neogene and Quaternary Periods). Modern distributional data for various organisms are also being made available for calibration and paleoecological analyses. The project is a collaborative effort among individuals from more than 20 institutions worldwide, including domain scientists representing a spectrum of Pliocene-Quaternary fossil data types, as well as experts in information technology. Working groups are active for diatoms, insects, ostracodes, pollen and plant macroscopic remains, testate amoebae, rodent middens, vertebrates, age models, geochemistry and taphonomy. Groups are also active in developing online tools for data analyses and for developing modules for teaching at different levels. A key design concept of NeotomaDB is that stewards for various data types are able to remotely upload and manage data. Cooperatives for different kinds of paleo data, or from different regions, can appoint their own stewards. Over the past year, much progress has been made on development of the steward software-interface that will enable this capability. The steward interface uses web services that provide access to the database. More generally, these web services enable remote programmatic access to the database, which both desktop and web applications can use and which provide real-time access to the most current data. Use of these services can alleviate the need to download the entire database, which can be out-of-date as soon as new data are entered. In general, the Neotoma web services deliver data either from an entire table or from the results of a view. Upon request, new web services can be quickly generated. Future developments will likely expand the spatial and temporal dimensions of the database. NeotomaDB is open to receiving new datasets and stewards from the global Quaternary community

  9. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

    PubMed

    Blue, Gillian M; Kirk, Edwin P; Giannoulatou, Eleni; Dunwoodie, Sally L; Ho, Joshua W K; Hilton, Desiree C K; White, Susan M; Sholler, Gary F; Harvey, Richard P; Winlaw, David S

    2014-12-16

    Many genes have been implicated in the development of congenital heart disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is often complicated by logistic and interpretative hurdles. This study sought to apply next-generation sequencing technology to CHD families with multiple affected members using a purpose-designed gene panel to assess diagnostic potential for future clinical applications. We designed a targeted next-generation sequencing gene panel for 57 genes previously implicated in CHD. Probands were screened in 16 families with strong CHD histories and in 15 control subjects. Variants affecting protein-coding regions were classified in silico using prediction programs and filtered according to predicted mode of inheritance, minor allele frequencies, and presence in databases such as dbSNP (Single Nucleotide Polymorphism Database) and ESP (Exome Sequencing Project). Disease segregation studies were conducted in variants identified in CHD cases predicted to be deleterious and with minor allele frequencies <0.1%. Thirteen potential disease-causing variants were identified in 9 families. Of these, 5 variants segregated with disease phenotype, revealing a likely molecular diagnosis in 31% of this cohort. Significant increases in the number of "indels, nonsense, and splice" variants, as well as variants classified as "probably damaging" were identified in CHD cases but not in control subjects. Also, there was a significant increase in the total number of "rare" and "low" frequency variants (minor allele frequencies <0.05) in the CHD cases. When multiple relatives are affected by CHD, a gene panel-based approach may identify its cause in up to 31% of families. Identifying causal variants has implications for clinical care and future family planning. Copyright © 2014 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  10. High Performance Database Management for Earth Sciences

    NASA Technical Reports Server (NTRS)

    Rishe, Naphtali; Barton, David; Urban, Frank; Chekmasov, Maxim; Martinez, Maria; Alvarez, Elms; Gutierrez, Martha; Pardo, Philippe

    1998-01-01

    The High Performance Database Research Center at Florida International University is completing the development of a highly parallel database system based on the semantic/object-oriented approach. This system provides exceptional usability and flexibility. It allows shorter application design and programming cycles and gives the user control via an intuitive information structure. It empowers the end-user to pose complex ad hoc decision support queries. Superior efficiency is provided through a high level of optimization, which is transparent to the user. Manifold reduction in storage size is allowed for many applications. This system allows for operability via internet browsers. The system will be used for the NASA Applications Center program to store remote sensing data, as well as for Earth Science applications.

  11. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

    PubMed

    Shah, Khadim; Ali, Raja Hussain; Ansar, Muhammad; Lee, Kwanghyuk; Chishti, Muhammad Salman; Abbe, Izoduwa; Li, Biao; Smith, Joshua D; Nickerson, Deborah A; Shendure, Jay; Coucke, Paul J; Steyaert, Wouter; Bamshad, Michael J; Santos-Cortez, Regie Lyn P; Leal, Suzanne M; Ahmad, Wasim

    2016-02-16

    Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with no UV sensitivity. We identified three consanguineous Pakistani families with varied TTDN features and used homozygosity mapping, linkage analysis, and Sanger and exome sequencing in order to identify pathogenic variants. Haplotype analysis was performed and haplotype age estimated. A splicing assay was used to validate the effect of the MPLKIP splice variant on expression. Affected individuals from all families exhibit several TTDN features along with a heart-specific feature, i.e. mitral regurgitation. Exome sequencing in the probands from families ED168 and ED241 identified a homozygous splice mutation c.339 + 1G > A within MPLKIP. The same splice variant co-segregates with TTDN in a third family ED210. The MPLKIP splice variant was not found in public databases, e.g. the Exome Aggregation Consortium, and in unrelated Pakistani controls. Functional analysis of the splice variant confirmed intron retention, which leads to protein truncation and loss of a phosphorylation site. Haplotype analysis identified a 585.1-kb haplotype which includes the MPLKIP variant, supporting the existence of a founder haplotype that is estimated to be 25,900 years old. This study extends the allelic and phenotypic spectra of MPLKIP-related TTDN, to include a splice variant that causes cardiomyopathy as part of the TTDN phenotype.

  12. VIEWCACHE: An incremental database access method for autonomous interoperable databases

    NASA Technical Reports Server (NTRS)

    Roussopoulos, Nick; Sellis, Timoleon

    1991-01-01

    The objective is to illustrate the concept of incremental access to distributed databases. An experimental database management system, ADMS, which has been developed at the University of Maryland, in College Park, uses VIEWCACHE, a database access method based on incremental search. VIEWCACHE is a pointer-based access method that provides a uniform interface for accessing distributed databases and catalogues. The compactness of the pointer structures formed during database browsing and the incremental access method allow the user to search and do inter-database cross-referencing with no actual data movement between database sites. Once the search is complete, the set of collected pointers pointing to the desired data are dereferenced.

  13. VIEWCACHE: An incremental database access method for autonomous interoperable databases

    NASA Technical Reports Server (NTRS)

    Roussopoulos, Nick; Sellis, Timoleon

    1991-01-01

    The objective is to illustrate the concept of incremental access to distributed databases. An experimental database management system, ADMS, which has been developed at the University of Maryland, in College Park, uses VIEWCACHE, a database access method based on incremental search. VIEWCACHE is a pointer-based access method that provides a uniform interface for accessing distributed databases and catalogues. The compactness of the pointer structures formed during database browsing and the incremental access method allow the user to search and do inter-database cross-referencing with no actual data movement between database sites. Once the search is complete, the set of collected pointers pointing to the desired data are dereferenced.

  14. Databases for plant phosphoproteomics.

    PubMed

    Schulze, Waltraud X; Yao, Qiuming; Xu, Dong

    2015-01-01

    Phosphorylation is the most studied posttranslational modification involved in signal transduction in stress responses, development, and growth. In the recent years large-scale phosphoproteomic studies were carried out using various model plants and several growth and stress conditions. Here we present an overview of online resources for plant phosphoproteomic databases: PhosPhAt as a resource for Arabidopsis phosphoproteins, P3DB as a resource expanding to crop plants, and Medicago PhosphoProtein Database as a resource for the model plant Medicago trunculata.

  15. JICST Factual Database(1)

    NASA Astrophysics Data System (ADS)

    Kurosawa, Shinji

    The outline of JICST factual database (JOIS-F), which JICST has started from January, 1988, and its online service are described in this paper. First, the author mentions the circumstances from 1973, when its planning was started, to the present, and its relation to "Project by Special Coordination Founds for Promoting Science and Technology". Secondly, databases, which are now under development aiming to start its services from fiscal 1988 or fiscal 1989, of DNA, metallic material intensity, crystal structure, chemical substance regulations, and so forth, are described. Lastly, its online service is briefly explained.

  16. Drycleaner Database - Region 7

    EPA Pesticide Factsheets

    THIS DATA ASSET NO LONGER ACTIVE: This is metadata documentation for the Region 7 Drycleaner Database (R7DryClnDB) which tracks all Region7 drycleaners who notify Region 7 subject to Maximum Achievable Control Technologiy (MACT) standards. The Air and Waste Management Division is the primary managing entity for this database. This work falls under objectives for EPA's 2003-2008 Strategic Plan (Goal 4) for Healthy Communities & Ecosystems, which are to reduce chemical and/or pesticide risks at facilities.

  17. The Genopolis Microarray Database

    PubMed Central

    Splendiani, Andrea; Brandizi, Marco; Even, Gael; Beretta, Ottavio; Pavelka, Norman; Pelizzola, Mattia; Mayhaus, Manuel; Foti, Maria; Mauri, Giancarlo; Ricciardi-Castagnoli, Paola

    2007-01-01

    Background Gene expression databases are key resources for microarray data management and analysis and the importance of a proper annotation of their content is well understood. Public repositories as well as microarray database systems that can be implemented by single laboratories exist. However, there is not yet a tool that can easily support a collaborative environment where different users with different rights of access to data can interact to define a common highly coherent content. The scope of the Genopolis database is to provide a resource that allows different groups performing microarray experiments related to a common subject to create a common coherent knowledge base and to analyse it. The Genopolis database has been implemented as a dedicated system for the scientific community studying dendritic and macrophage cells functions and host-parasite interactions. Results The Genopolis Database system allows the community to build an object based MIAME compliant annotation of their experiments and to store images, raw and processed data from the Affymetrix GeneChip® platform. It supports dynamical definition of controlled vocabularies and provides automated and supervised steps to control the coherence of data and annotations. It allows a precise control of the visibility of the database content to different sub groups in the community and facilitates exports of its content to public repositories. It provides an interactive users interface for data analysis: this allows users to visualize data matrices based on functional lists and sample characterization, and to navigate to other data matrices defined by similarity of expression values as well as functional characterizations of genes involved. A collaborative environment is also provided for the definition and sharing of functional annotation by users. Conclusion The Genopolis Database supports a community in building a common coherent knowledge base and analyse it. This fills a gap between a local

  18. Drycleaner Database - Region 7

    EPA Pesticide Factsheets

    THIS DATA ASSET NO LONGER ACTIVE: This is metadata documentation for the Region 7 Drycleaner Database (R7DryClnDB) which tracks all Region7 drycleaners who notify Region 7 subject to Maximum Achievable Control Technologiy (MACT) standards. The Air and Waste Management Division is the primary managing entity for this database. This work falls under objectives for EPA's 2003-2008 Strategic Plan (Goal 4) for Healthy Communities & Ecosystems, which are to reduce chemical and/or pesticide risks at facilities.

  19. Database Management System

    NASA Technical Reports Server (NTRS)

    1990-01-01

    In 1981 Wayne Erickson founded Microrim, Inc, a company originally focused on marketing a microcomputer version of RIM (Relational Information Manager). Dennis Comfort joined the firm and is now vice president, development. The team developed an advanced spinoff from the NASA system they had originally created, a microcomputer database management system known as R:BASE 4000. Microrim added many enhancements and developed a series of R:BASE products for various environments. R:BASE is now the second largest selling line of microcomputer database management software in the world.

  20. The Ribosomal Database Project.

    PubMed

    Maidak, B L; Larsen, N; McCaughey, M J; Overbeek, R; Olsen, G J; Fogel, K; Blandy, J; Woese, C R

    1994-09-01

    The Ribosomal Database Project (RDP) is a curated database that offers ribosome-related data, analysis services, and associated computer programs. The offerings include phylogenetically ordered alignments of ribosomal RNA (rRNA) sequences, derived phylogenetic trees, rRNA secondary structure diagrams, and various software for handling, analyzing and displaying alignments and trees. The data are available via anonymous ftp (rdp.life.uiuc.edu), electronic mail (server/rdp.life.uiuc.edu) and gopher (rdpgopher.life.uiuc.edu). The electronic mail server also provides ribosomal probe checking, approximate phylogenetic placement of user-submitted sequences, screening for chimeric nature of newly sequenced rRNAs, and automated alignment.

  1. Database challenges and solutions in neuroscientific applications.

    PubMed

    Dashti, A E; Ghandeharizadeh, S; Stone, J; Swanson, L W; Thompson, R H

    1997-02-01

    In the scientific community, the quality and progress of various endeavors depend in part on the ability of researchers to share and exchange large quantities of heterogeneous data with one another efficiently. This requires controlled sharing and exchange of information among autonomous, distributed, and heterogeneous databases. In this paper, we focus on a neuroscience application, Neuroanatomical Rat Brain Viewer (NeuART Viewer) to demonstrate alternative database concepts that allow neuroscientists to manage and exchange data. Requirements for the NeuART application, in combination with an underlying network-aware database, are described at a conceptual level. Emphasis is placed on functionality from the user's perspective and on requirements that the database must fulfill. The most important functionality required by neuroscientists is the ability to construct brain models using information from different repositories. To accomplish such a task, users need to browse remote and local sources and summaries of data and capture relevant information to be used in building and extending the brain models. Other functionalities are also required, including posing queries related to brain models, augmenting and customizing brain models, and sharing brain models in a collaborative environment. An extensible object-oriented data model is presented to capture the many data types expected in this application. After presenting conceptual level design issues, we describe several known database solutions that support these requirements and discuss requirements that demand further research. Data integration for heterogeneous databases is discussed in terms of reducing or eliminating semantic heterogeneity when translations are made from one system to another. Performance enhancement mechanisms such as materialized views and spatial indexing for three-dimensional objects are explained and evaluated in the context of browsing, incorporating, and sharing. Policies for providing

  2. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits [Vlaardingen, NL; Gualfetti, Peter [San Francisco, CA; Mitchinson, Colin [Half Moon Bay, CA; Larenas, Edmund [Moss Beach, CA

    2008-12-02

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  3. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits [Vlaardingen, NL; Gualfetti, Peter [San Francisco, CA; Mitchinson, Colin [Half Moon Bay, CA; Larenas, Edmund [Moss Beach, CA

    2011-05-31

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  4. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits [Vlaardingen, NL; Gualfetti, Peter [San Francisco, CA; Mitchinson, Colin [Half Moon Bay, CA; Larenas, Edmund [Moss Beach, CA

    2011-08-16

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  5. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits [Vlaardingen, NL; Gualfetti, Peter [San Francisco, CA; Mitchinson, Colin [Half Moon Bay, CA; Larenas, Edmund [Moss Beach, CA

    2012-08-07

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  6. Variant humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits; Gualfetti, Peter; Mitchinson, Colin; Edmund, Larenas

    2014-09-09

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  7. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegeburr, Frits; Gualfetti, Peter; Mitchinson, Colin; Larenas, Edmund

    2013-02-19

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  8. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits; Gualfetti, Peter; Mitchinson, Colin; Larenas, Edmund

    2014-03-18

    Disclosed are variants of Humicola grisea Cel7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  9. Variant Humicola grisea CBH1.1

    DOEpatents

    Goedegebuur, Frits; Gualfetti, Peter; Mitchinson, Colin; Larenas, Edmund

    2017-05-09

    Disclosed are variants of Humicola grisea CeI7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  10. DHAD variants and methods of screening

    DOEpatents

    Kelly, Kristen J.; Ye, Rick W.

    2017-02-28

    Methods of screening for dihydroxy-acid dehydratase (DHAD) variants that display increased DHAD activity are disclosed, along with DHAD variants identified by these methods. Such enzymes can result in increased production of compounds from DHAD requiring biosynthetic pathways. Also disclosed are isolated nucleic acids encoding the DHAD variants, recombinant host cells comprising the isolated nucleic acid molecules, and methods of producing butanol.

  11. A novel orientation code for face recognition

    NASA Astrophysics Data System (ADS)

    Zheng, Yufeng

    2011-06-01

    A novel orientation code is proposed for face recognition applications in this paper. Gabor wavelet transform is a common tool for orientation analysis in a 2D image; whereas Hamming distance is an efficient distance measurement for multiple classifications such as face identification. Specifically, at each frequency band, an index number representing the strongest orientational response is selected, and then encoded in binary format to favor the Hamming distance calculation. Multiple-band orientation codes are then organized into a face pattern byte (FPB) by using order statistics. With the FPB, Hamming distances are calculated and compared to achieve face identification. The FPB has the dimensionality of 8 bits per pixel and its performance will be compared to that of FPW (face pattern word, 32 bits per pixel). The dimensionality of FPB can be further reduced down to 4 bits per pixel, called face pattern nibble (FPN). Experimental results with visible and thermal face databases show that the proposed orientation code for face recognition is very promising in contrast with classical methods such as PCA.

  12. Tiered Human Integrated Sequence Search Databases for Shotgun Proteomics

    PubMed Central

    Deutsch, Eric W.; Sun, Zhi; Campbell, David S.; Binz, Pierre-Alain; Farrah, Terry; Shteynberg, David; Mendoza, Luis; Omenn, Gilbert S.; Moritz, Robert L.

    2016-01-01

    The results of analysis of shotgun proteomics mass spectrometry data can be greatly affected by the selection of the reference protein sequence database against which the spectra are matched. For many species there are multiple sources from which somewhat different sequence sets can be obtained. This can lead to confusion about which database is best in which circumstances – a problem especially acute in human sample analysis. All sequence databases are genome-based, with sequences for the predicted gene and their protein translation products compiled. Our goal is to create a set of primary sequence databases that comprise the union of sequences from many of the different available sources and make the result easily available to the community. We have compiled a set of four sequence databases of varying sizes, from a small database consisting of only the ~20,000 primary isoforms plus contaminants to a very large database that includes almost all non-redundant protein sequences from several sources. This set of tiered, increasingly complete human protein sequence databases suitable for mass spectrometry proteomics sequence database searching is called the Tiered Human Integrated Search Proteome set. In order to evaluate the utility of these databases, we have analyzed two different data sets, one from the HeLa cell line and the other from normal human liver tissue, with each of the four tiers of database complexity. The result is that approximately 0.8%, 1.1%, and 1.5% additional peptides can be identified for Tiers 2, 3, and 4, respectively, as compared with the Tier 1 database, at substantially increasing computational cost. This increase in computational cost may be worth bearing if the identification of sequence variants or the discovery of sequences that are not present in the reviewed knowledge base entries is an important goal of the study. We find that it is useful to search a data set against a simpler database, and then check the uniqueness of the

  13. Tiered Human Integrated Sequence Search Databases for Shotgun Proteomics.

    PubMed

    Deutsch, Eric W; Sun, Zhi; Campbell, David S; Binz, Pierre-Alain; Farrah, Terry; Shteynberg, David; Mendoza, Luis; Omenn, Gilbert S; Moritz, Robert L

    2016-11-04

    The results of analysis of shotgun proteomics mass spectrometry data can be greatly affected by the selection of the reference protein sequence database against which the spectra are matched. For many species there are multiple sources from which somewhat different sequence sets can be obtained. This can lead to confusion about which database is best in which circumstances-a problem especially acute in human sample analysis. All sequence databases are genome-based, with sequences for the predicted gene and their protein translation products compiled. Our goal is to create a set of primary sequence databases that comprise the union of sequences from many of the different available sources and make the result easily available to the community. We have compiled a set of four sequence databases of varying sizes, from a small database consisting of only the ∼20,000 primary isoforms plus contaminants to a very large database that includes almost all nonredundant protein sequences from several sources. This set of tiered, increasingly complete human protein sequence databases suitable for mass spectrometry proteomics sequence database searching is called the Tiered Human Integrated Search Proteome set. In order to evaluate the utility of these databases, we have analyzed two different data sets, one from the HeLa cell line and the other from normal human liver tissue, with each of the four tiers of database complexity. The result is that approximately 0.8%, 1.1%, and 1.5% additional peptides can be identified for Tiers 2, 3, and 4, respectively, as compared with the Tier 1 database, at substantially increasing computational cost. This increase in computational cost may be worth bearing if the identification of sequence variants or the discovery of sequences that are not present in the reviewed knowledge base entries is an important goal of the study. We find that it is useful to search a data set against a simpler database, and then check the uniqueness of the

  14. A variant of Brugada syndrome.

    PubMed

    Switzer, Maryna Popp; Teleb, Mohamed; Agunanne, Enoch; Abbas, Aamer

    2017-01-01

    Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.

  15. A variant of Brugada syndrome

    PubMed Central

    Switzer, Maryna Popp; Agunanne, Enoch; Abbas, Aamer

    2017-01-01

    Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest. PMID:28127136

  16. Clinicopathologic Variants of Mycosis Fungoides.

    PubMed

    Muñoz-González, H; Molina-Ruiz, A M; Requena, L

    2017-04-01

    Mycosis fungoides (MF) is the most common primary cutaneous T-cell lymphoma. The clinical course of the disease is typically characterized by progression from a nonspecific phase of erythematous macules to the appearance of plaques and ultimately, in some patients, tumors. However, numerous clinical and histopathologic variants of MF with specific therapeutic and prognostic implications have been described in recent decades. Clarification of the differential diagnosis can be frustrated by the wide range of clinical manifestations and histopathologic patterns of cutaneous infiltration, particularly in the early phases of the disease. In this paper, we review the main clinical, histopathologic, and immunohistochemical characteristics of the variants of MF described in the literature in order to facilitate early diagnosis of the disease.

  17. Oncotator: cancer variant annotation tool.

    PubMed

    Ramos, Alex H; Lichtenstein, Lee; Gupta, Manaswi; Lawrence, Michael S; Pugh, Trevor J; Saksena, Gordon; Meyerson, Matthew; Getz, Gad

    2015-04-01

    Oncotator is a tool for annotating genomic point mutations and short nucleotide insertions/deletions (indels) with variant- and gene-centric information relevant to cancer researchers. This information is drawn from 14 different publicly available resources that have been pooled and indexed, and we provide an extensible framework to add additional data sources. Annotations linked to variants range from basic information, such as gene names and functional classification (e.g. missense), to cancer-specific data from resources such as the Catalogue of Somatic Mutations in Cancer (COSMIC), the Cancer Gene Census, and The Cancer Genome Atlas (TCGA). For local use, Oncotator is freely available as a python module hosted on Github (https://github.com/broadinstitute/oncotator). Furthermore, Oncotator is also available as a web service and web application at http://www.broadinstitute.org/oncotator/.

  18. Pigmented Porokeratosis. A Further Variant?

    PubMed

    Tan, Tracy S P; Tallon, Ben

    2016-03-01

    Porokeratosis is a clonal disorder of keratinization characterized by the presence of the cornoid lamella. A number of variants of porokeratosis have been described, based on the clinical features and histologic features of the lesions. The authors present a case of porokeratosis with prominent melanocytic hyperplasia, which was biopsied to clinically exclude melanoma. The authors retrospectively studied cases of porokeratosis to look for the presence of melanocytic hyperplasia. Melanocytic hyperplasia was identified in 8 of 31 cases (25.8%). All of the cases except the index case were clinically nonpigmented but arose in solar damaged skin. This case represents a distinct variant of porokeratosis, and the authors propose the designation pigmented porokeratosis. Melanocytic hyperplasia is a benign condition, and it is important that this is not histologically confused with melanoma in situ, particularly in a context of clinically pigmented lesion. Increased recognition of pigmented porokeratosis is essential to avoid an erroneous diagnosis of melanoma in situ.

  19. TREC Document Database: Disk 4

    National Institute of Standards and Technology Data Gateway

    NIST TREC Document Database: Disk 4 (PC database for purchase)   NIST TREC Document Databases (Special Database 22) are distributed for the development and testing of information retrieval (IR) systems and related natural language processing research. The document collections consist of the full text of various newspaper and newswire articles plus government proceedings.

  20. TREC Document Database: Disk 5

    National Institute of Standards and Technology Data Gateway

    NIST TREC Document Database: Disk 5 (PC database for purchase)   NIST TREC Document Databases (Special Database 23) are distributed for the development and testing of information retrieval (IR) systems and related natural language processing research. The document collections consist of the full text of various newspaper and newswire articles plus government proceedings.

  1. Unusual variant of Cantrell's pentalogy?

    PubMed Central

    Kumar, Basant; Sharma, S. B.; Kandpal, Deepak K.; Agrawal, L. D.

    2008-01-01

    A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell's pentalogy? PMID:19561890

  2. Weathering Database Technology

    ERIC Educational Resources Information Center

    Snyder, Robert

    2005-01-01

    Collecting weather data is a traditional part of a meteorology unit at the middle level. However, making connections between the data and weather conditions can be a challenge. One way to make these connections clearer is to enter the data into a database. This allows students to quickly compare different fields of data and recognize which…

  3. The CEBAF Element Database

    SciTech Connect

    Theodore Larrieu, Christopher Slominski, Michele Joyce

    2011-03-01

    With the inauguration of the CEBAF Element Database (CED) in Fall 2010, Jefferson Lab computer scientists have taken a step toward the eventual goal of a model-driven accelerator. Once fully populated, the database will be the primary repository of information used for everything from generating lattice decks to booting control computers to building controls screens. A requirement influencing the CED design is that it provide access to not only present, but also future and past configurations of the accelerator. To accomplish this, an introspective database schema was designed that allows new elements, types, and properties to be defined on-the-fly with no changes to table structure. Used in conjunction with Oracle Workspace Manager, it allows users to query data from any time in the database history with the same tools used to query the present configuration. Users can also check-out workspaces to use as staging areas for upcoming machine configurations. All Access to the CED is through a well-documented Application Programming Interface (API) that is translated automatically from original C++ source code into native libraries for scripting languages such as perl, php, and TCL making access to the CED easy and ubiquitous.

  4. Databases and data mining

    USDA-ARS?s Scientific Manuscript database

    Over the course of the past decade, the breadth of information that is made available through online resources for plant biology has increased astronomically, as have the interconnectedness among databases, online tools, and methods of data acquisition and analysis. For maize researchers, the numbe...

  5. MARC and Relational Databases.

    ERIC Educational Resources Information Center

    Llorens, Jose; Trenor, Asuncion

    1993-01-01

    Discusses the use of MARC format in relational databases and addresses problems of incompatibilities. A solution is presented that is in accordance with Open Systems Interconnection (OSI) standards and is based on experiences at the library of the Universidad Politecnica de Valencia (Spain). (four references) (EA)

  6. Food composition databases

    USDA-ARS?s Scientific Manuscript database

    Food composition is the determination of what is in the foods we eat and is the critical bridge between nutrition, health promotion and disease prevention and food production. Compilation of data into useable databases is essential to the development of dietary guidance for individuals and populat...

  7. Redis database administration tool

    SciTech Connect

    Martinez, J. J.

    2013-02-13

    MyRedis is a product of the Lorenz subproject under the ASC Scirntific Data Management effort. MyRedis is a web based utility designed to allow easy administration of instances of Redis databases. It can be usedd to view and manipulate data as well as run commands directly against a variety of different Redis hosts.

  8. Triatomic Spectral Database

    National Institute of Standards and Technology Data Gateway

    SRD 117 Triatomic Spectral Database (Web, free access)   All of the rotational spectral lines observed and reported in the open literature for 55 triatomic molecules have been tabulated. The isotopic molecular species, assigned quantum numbers, observed frequency, estimated measurement uncertainty and reference are given for each transition reported.

  9. Diatomic Spectral Database

    National Institute of Standards and Technology Data Gateway

    SRD 114 Diatomic Spectral Database (Web, free access)   All of the rotational spectral lines observed and reported in the open literature for 121 diatomic molecules have been tabulated. The isotopic molecular species, assigned quantum numbers, observed frequency, estimated measurement uncertainty, and reference are given for each transition reported.

  10. Hydrocarbon Spectral Database

    National Institute of Standards and Technology Data Gateway

    SRD 115 Hydrocarbon Spectral Database (Web, free access)   All of the rotational spectral lines observed and reported in the open literature for 91 hydrocarbon molecules have been tabulated. The isotopic molecular species, assigned quantum numbers, observed frequency, estimated measurement uncertainty and reference are given for each transition reported.

  11. The Ribosomal Database Project

    PubMed Central

    Olsen, Gary J.; Overbeek, Ross; Larsen, Niels; Marsh, Terry L.; McCaughey, Michael J.; Maciukenas, Michael A.; Kuan, Wen-Min; Macke, Thomas J.; Xing, Yuqing; Woese, Carl R.

    1992-01-01

    The Ribosomal Database Project (RDP) compiles ribosomal sequences and related data, and redistributes them in aligned and phylogenetically ordered form to its user community. It also offers various software packages for handling, analyzing and displaying sequences. In addition, the RDP offers (or will offer) certain analytic services. At present the project is in an intermediate stage of development. PMID:1598241

  12. The Ribosomal Database Project

    NASA Technical Reports Server (NTRS)

    Olsen, G. J.; Overbeek, R.; Larsen, N.; Marsh, T. L.; McCaughey, M. J.; Maciukenas, M. A.; Kuan, W. M.; Macke, T. J.; Xing, Y.; Woese, C. R.

    1992-01-01

    The Ribosomal Database Project (RDP) complies ribosomal sequences and related data, and redistributes them in aligned and phylogenetically ordered form to its user community. It also offers various software packages for handling, analyzing and displaying sequences. In addition, the RDP offers (or will offer) certain analytic services. At present the project is in an intermediate stage of development.

  13. High Performance Buildings Database

    DOE Data Explorer

    The High Performance Buildings Database is a shared resource for the building industry, a unique central repository of in-depth information and data on high-performance, green building projects across the United States and abroad. The database includes information on the energy use, environmental performance, design process, finances, and other aspects of each project. Members of the design and construction teams are listed, as are sources for additional information. In total, up to twelve screens of detailed information are provided for each project profile. Projects range in size from small single-family homes or tenant fit-outs within buildings to large commercial and institutional buildings and even entire campuses. The database is a data repository as well. A series of Web-based data-entry templates allows anyone to enter information about a building project into the database. Once a project has been submitted, each of the partner organizations can review the entry and choose whether or not to publish that particular project on its own Web site.

  14. Danish Urogynaecological Database

    PubMed Central

    Hansen, Ulla Darling; Gradel, Kim Oren; Larsen, Michael Due

    2016-01-01

    The Danish Urogynaecological Database is established in order to ensure high quality of treatment for patients undergoing urogynecological surgery. The database contains details of all women in Denmark undergoing incontinence surgery or pelvic organ prolapse surgery amounting to ~5,200 procedures per year. The variables are collected along the course of treatment of the patient from the referral to a postoperative control. Main variables are prior obstetrical and gynecological history, symptoms, symptom-related quality of life, objective urogynecological findings, type of operation, complications if relevant, implants used if relevant, 3–6-month postoperative recording of symptoms, if any. A set of clinical quality indicators is being maintained by the steering committee for the database and is published in an annual report which also contains extensive descriptive statistics. The database has a completeness of over 90% of all urogynecological surgeries performed in Denmark. Some of the main variables have been validated using medical records as gold standard. The positive predictive value was above 90%. The data are used as a quality monitoring tool by the hospitals and in a number of scientific studies of specific urogynecological topics, broader epidemiological topics, and the use of patient reported outcome measures. PMID:27826217

  15. Weathering Database Technology

    ERIC Educational Resources Information Center

    Snyder, Robert

    2005-01-01

    Collecting weather data is a traditional part of a meteorology unit at the middle level. However, making connections between the data and weather conditions can be a challenge. One way to make these connections clearer is to enter the data into a database. This allows students to quickly compare different fields of data and recognize which…

  16. The Ribosomal Database Project.

    PubMed

    Olsen, G J; Overbeek, R; Larsen, N; Marsh, T L; McCaughey, M J; Maciukenas, M A; Kuan, W M; Macke, T J; Xing, Y; Woese, C R

    1992-05-11

    The Ribosomal Database Project (RDP) complies ribosomal sequences and related data, and redistributes them in aligned and phylogenetically ordered form to its user community. It also offers various software packages for handling, analyzing and displaying sequences. In addition, the RDP offers (or will offer) certain analytic services. At present the project is in an intermediate stage of development.

  17. The Exoplanet Orbit Database

    NASA Astrophysics Data System (ADS)

    Wright, J. T.; Fakhouri, O.; Marcy, G. W.; Han, E.; Feng, Y.; Johnson, John Asher; Howard, A. W.; Fischer, D. A.; Valenti, J. A.; Anderson, J.; Piskunov, N.

    2011-04-01

    We present a database of well-determined orbital parameters of exoplanets, and their host stars’ properties. This database comprises spectroscopic orbital elements measured for 427 planets orbiting 363 stars from radial velocity and transit measurements as reported in the literature. We have also compiled fundamental transit parameters, stellar parameters, and the method used for the planets discovery. This Exoplanet Orbit Database includes all planets with robust, well measured orbital parameters reported in peer-reviewed articles. The database is available in a searchable, filterable, and sortable form online through the Exoplanets Data Explorer table, and the data can be plotted and explored through the Exoplanet Data Explorer plotter. We use the Data Explorer to generate publication-ready plots, giving three examples of the signatures of exoplanet migration and dynamical evolution: We illustrate the character of the apparent correlation between mass and period in exoplanet orbits, the different selection biases between radial velocity and transit surveys, and that the multiplanet systems show a distinct semimajor-axis distribution from apparently singleton systems.

  18. Uranium Location Database

    EPA Pesticide Factsheets

    A GIS compiled locational database in Microsoft Access of ~15,000 mines with uranium occurrence or production, primarily in the western United States. The metadata was cooperatively compiled from Federal and State agency data sets and enables the user to conduct geographic and analytical studies on mine impacts on the public and environment.

  19. Patent Family Databases.

    ERIC Educational Resources Information Center

    Simmons, Edlyn S.

    1985-01-01

    Reports on retrieval of patent information online and includes definition of patent family, basic and equivalent patents, "parents and children" applications, designated states, patent family databases--International Patent Documentation Center, World Patents Index, APIPAT (American Petroleum Institute), CLAIMS (IFI/Plenum). A table…

  20. Danish Gynecological Cancer Database

    PubMed Central

    Sørensen, Sarah Mejer; Bjørn, Signe Frahm; Jochumsen, Kirsten Marie; Jensen, Pernille Tine; Thranov, Ingrid Regitze; Hare-Bruun, Helle; Seibæk, Lene; Høgdall, Claus

    2016-01-01

    Aim of database The Danish Gynecological Cancer Database (DGCD) is a nationwide clinical cancer database and its aim is to monitor the treatment quality of Danish gynecological cancer patients, and to generate data for scientific purposes. DGCD also records detailed data on the diagnostic measures for gynecological cancer. Study population DGCD was initiated January 1, 2005, and includes all patients treated at Danish hospitals for cancer of the ovaries, peritoneum, fallopian tubes, cervix, vulva, vagina, and uterus, including rare histological types. Main variables DGCD data are organized within separate data forms as follows: clinical data, surgery, pathology, pre- and postoperative care, complications, follow-up visits, and final quality check. DGCD is linked with additional data from the Danish “Pathology Registry”, the “National Patient Registry”, and the “Cause of Death Registry” using the unique Danish personal identification number (CPR number). Descriptive data Data from DGCD and registers are available online in the Statistical Analysis Software portal. The DGCD forms cover almost all possible clinical variables used to describe gynecological cancer courses. The only limitation is the registration of oncological treatment data, which is incomplete for a large number of patients. Conclusion The very complete collection of available data from more registries form one of the unique strengths of DGCD compared to many other clinical databases, and provides unique possibilities for validation and completeness of data. The success of the DGCD is illustrated through annual reports, high coverage, and several peer-reviewed DGCD-based publications. PMID:27822089

  1. Variant-specific prion interactions

    PubMed Central

    Sharma, Jaya; Liebman, Susan W

    2013-01-01

    Prions are protein conformations that “self-seed” the misfolding of their non-prion iso-forms into prion, often amyloid, conformations. The most famous prion is the mammalian PrP protein that in its prion form causes transmissible spongiform encephalopathy. Curiously there can be distinct conformational differences even between prions of the same protein propagated in the same host species. These are called prion strains or variants. For example, different PrP variants are faithfully transmitted during self-seeding and are associated with distinct disease characteristics. Variant-specific PrP prion differences include the length of the incubation period before the disease appears and the deposition of prion aggregates in distinct regions of the brain.1 Other more common neurodegenerative diseases (e.g., Alzheimer disease, Parkinson disease, type 2 diabetes and ALS) are likewise caused by the misfolding of a normal protein into a self-seeding aggregate.2-4 One of the most important unanswered questions is how the first prion-like seed arises de novo, resulting in the pathological cascade. PMID:24475372

  2. Dorsal variant blister aneurysm repair.

    PubMed

    Couldwell, William T; Chamoun, Roukoz

    2012-01-01

    Dorsal variant proximal carotid blister aneurysms are treacherous lesions to manage. It is important to recognize this variant on preoperative angiographic imaging, in anticipation of surgical strategies for their treatment. Strategies include trapping the involved segment and revascularization if necessary. Other options include repair of the aneurysm rupture site directly. Given that these are not true berry aneurysms, repair of the rupture site involves wrapping or clip-grafting techniques. The case presented here was a young woman with a subarachnoid hemorrhage from a ruptured dorsal variant blister aneurysm. The technique used is demonstrated in the video and is a modified clip-wrap technique using woven polyester graft material. The patient was given aspirin preoperatively as preparation for the clip-wrap technique. It is the authors' current protocol to attempt a direct repair with clip-wrapping and leaving artery sacrifice with or without bypass as a salvage therapy if direct repair is not possible. Assessment of vessel patency after repair is performed by intraoperative Doppler and indocyanine green angiography. Intraoperative somatosensory and motor evoked potential monitoring is performed in all cases. The video can be found here: http://youtu.be/crUreWGQdGo.

  3. JDD, Inc. Database

    NASA Technical Reports Server (NTRS)

    Miller, David A., Jr.

    2004-01-01

    JDD Inc, is a maintenance and custodial contracting company whose mission is to provide their clients in the private and government sectors "quality construction, construction management and cleaning services in the most efficient and cost effective manners, (JDD, Inc. Mission Statement)." This company provides facilities support for Fort Riley in Fo,rt Riley, Kansas and the NASA John H. Glenn Research Center at Lewis Field here in Cleveland, Ohio. JDD, Inc. is owned and operated by James Vaughn, who started as painter at NASA Glenn and has been working here for the past seventeen years. This summer I worked under Devan Anderson, who is the safety manager for JDD Inc. in the Logistics and Technical Information Division at Glenn Research Center The LTID provides all transportation, secretarial, security needs and contract management of these various services for the center. As a safety manager, my mentor provides Occupational Health and Safety Occupation (OSHA) compliance to all JDD, Inc. employees and handles all other issues (Environmental Protection Agency issues, workers compensation, safety and health training) involving to job safety. My summer assignment was not as considered "groundbreaking research" like many other summer interns have done in the past, but it is just as important and beneficial to JDD, Inc. I initially created a database using a Microsoft Excel program to classify and categorize data pertaining to numerous safety training certification courses instructed by our safety manager during the course of the fiscal year. This early portion of the database consisted of only data (training field index, employees who were present at these training courses and who was absent) from the training certification courses. Once I completed this phase of the database, I decided to expand the database and add as many dimensions to it as possible. Throughout the last seven weeks, I have been compiling more data from day to day operations and been adding the

  4. The AMMA database

    NASA Astrophysics Data System (ADS)

    Boichard, Jean-Luc; Brissebrat, Guillaume; Cloche, Sophie; Eymard, Laurence; Fleury, Laurence; Mastrorillo, Laurence; Moulaye, Oumarou; Ramage, Karim

    2010-05-01

    The AMMA project includes aircraft, ground-based and ocean measurements, an intensive use of satellite data and diverse modelling studies. Therefore, the AMMA database aims at storing a great amount and a large variety of data, and at providing the data as rapidly and safely as possible to the AMMA research community. In order to stimulate the exchange of information and collaboration between researchers from different disciplines or using different tools, the database provides a detailed description of the products and uses standardized formats. The AMMA database contains: - AMMA field campaigns datasets; - historical data in West Africa from 1850 (operational networks and previous scientific programs); - satellite products from past and future satellites, (re-)mapped on a regular latitude/longitude grid and stored in NetCDF format (CF Convention); - model outputs from atmosphere or ocean operational (re-)analysis and forecasts, and from research simulations. The outputs are processed as the satellite products are. Before accessing the data, any user has to sign the AMMA data and publication policy. This chart only covers the use of data in the framework of scientific objectives and categorically excludes the redistribution of data to third parties and the usage for commercial applications. Some collaboration between data producers and users, and the mention of the AMMA project in any publication is also required. The AMMA database and the associated on-line tools have been fully developed and are managed by two teams in France (IPSL Database Centre, Paris and OMP, Toulouse). Users can access data of both data centres using an unique web portal. This website is composed of different modules : - Registration: forms to register, read and sign the data use chart when an user visits for the first time - Data access interface: friendly tool allowing to build a data extraction request by selecting various criteria like location, time, parameters... The request can

  5. PMAG: Relational Database Definition

    NASA Astrophysics Data System (ADS)

    Keizer, P.; Koppers, A.; Tauxe, L.; Constable, C.; Genevey, A.; Staudigel, H.; Helly, J.

    2002-12-01

    The Scripps center for Physical and Chemical Earth References (PACER) was established to help create databases for reference data and make them available to the Earth science community. As part of these efforts PACER supports GERM, REM and PMAG and maintains multiple online databases under the http://earthref.org umbrella website. This website has been built on top of a relational database that allows for the archiving and electronic access to a great variety of data types and formats, permitting data queries using a wide range of metadata. These online databases are designed in Oracle 8.1.5 and they are maintained at the San Diego Supercomputer Center. They are directly available via http://earthref.org/databases/. A prototype of the PMAG relational database is now operational within the existing EarthRef.org framework under http://earthref.org/databases/PMAG/. As will be shown in our presentation, the PMAG design focuses around the general workflow that results in the determination of typical paleo-magnetic analyses. This ensures that individual data points can be traced between the actual analysis and the specimen, sample, site, locality and expedition it belongs to. These relations guarantee traceability of the data by distinguishing between original and derived data, where the actual (raw) measurements are performed on the specimen level, and data on the sample level and higher are then derived products in the database. These relations may also serve to recalculate site means when new data becomes available for that locality. The PMAG data records are extensively described in terms of metadata. These metadata are used when scientists search through this online database in order to view and download their needed data. They minimally include method descriptions for field sampling, laboratory techniques and statistical analyses. They also include selection criteria used during the interpretation of the data and, most importantly, critical information about the

  6. An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors.

    PubMed

    Broeckx, Bart J G; Coopman, Frank; Verhoeven, Geert; Bosmans, Tim; Gielen, Ingrid; Dingemanse, Walter; Saunders, Jimmy H; Deforce, Dieter; Van Nieuwerburgh, Filip

    2015-11-19

    Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters. The recent development of whole exome sequencing enrichment designs for several non-model species created the need for a species-independent, fast and versatile analysis tool, capable of tackling a wide variety of standard and more complex inheritance models. With this aim, we developed "Mendelian", an R-package that can be used for heuristic variant filtering. The R-package Mendelian offers fast and convenient filters to analyze putative variants for both recessive and dominant models of inheritance, with variable degrees of penetrance and detectance. Analysis of trios is supported. Filtering against variant databases and annotation of variants is also included. This package is not species specific and supports parallel computation. We validated this package by reanalyzing data from a whole exome sequencing experiment on intellectual disability in humans. In a second example, we identified the mutations responsible for coat color in the dog. This is the first example of whole exome sequencing without prior mapping in the dog. We developed an R-package that enables the identification of disease-causing variants from the long list of variants called in sequencing experiments. The software and a detailed manual are available at https://github.com/BartBroeckx/Mendelian.

  7. A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

    PubMed Central

    Perreault-Micale, Cynthia; Davie, Jocelyn; Breton, Benjamin; Hallam, Stephanie; Greger, Valerie

    2015-01-01

    Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasingly intermixed, this approach is becoming inadequate. Our objective was to develop a rigorous process to curate all variants, for relevant genes, into a database and then apply stringent clinical validity classification criteria to each in order to retain only those with clear evidence for pathogenicity. The resulting variant set, in conjunction with next-generation DNA sequencing (NGS), then affords the capability for an ethnically diverse, comprehensive, highly specific carrier-screening assay. The clinical utility of our approach was demonstrated by screening a pan-ethnic population of 22,864 individuals for Bloom syndrome carrier status using a BLM variant panel comprised of 50 pathogenic variants. In addition to carriers of the common AJ founder variant, we identified 57 carriers of other pathogenic BLM variants. All variants reported had previously been curated and their clinical validity documented, or were of a type that met our stringent, preassigned validity criteria. Thus, it was possible to confidently report an increased number of Bloom’s syndrome carriers compared to traditional, ethnicity-based screening, while not reducing the specificity of the screening due to reporting variants of unknown clinical significance. PMID:26247052

  8. Tautomerism in large databases

    PubMed Central

    Sitzmann, Markus; Ihlenfeldt, Wolf-Dietrich

    2010-01-01

    We have used the Chemical Structure DataBase (CSDB) of the NCI CADD Group, an aggregated collection of over 150 small-molecule databases totaling 103.5 million structure records, to conduct tautomerism analyses on one of the largest currently existing sets of real (i.e. not computer-generated) compounds. This analysis was carried out using calculable chemical structure identifiers developed by the NCI CADD Group, based on hash codes available in the chemoinformatics toolkit CACTVS and a newly developed scoring scheme to define a canonical tautomer for any encountered structure. CACTVS’s tautomerism definition, a set of 21 transform rules expressed in SMIRKS line notation, was used, which takes a comprehensive stance as to the possible types of tautomeric interconversion included. Tautomerism was found to be possible for more than 2/3 of the unique structures in the CSDB. A total of 680 million tautomers were calculated from, and including, the original structure records. Tautomerism overlap within the same individual database (i.e. at least one other entry was present that was really only a different tautomeric representation of the same compound) was found at an average rate of 0.3% of the original structure records, with values as high as nearly 2% for some of the databases in CSDB. Projected onto the set of unique structures (by FICuS identifier), this still occurred in about 1.5% of the cases. Tautomeric overlap across all constituent databases in CSDB was found for nearly 10% of the records in the collection. PMID:20512400

  9. Tautomerism in large databases

    NASA Astrophysics Data System (ADS)

    Sitzmann, Markus; Ihlenfeldt, Wolf-Dietrich; Nicklaus, Marc C.

    2010-06-01

    We have used the Chemical Structure DataBase (CSDB) of the NCI CADD Group, an aggregated collection of over 150 small-molecule databases totaling 103.5 million structure records, to conduct tautomerism analyses on one of the largest currently existing sets of real (i.e. not computer-generated) compounds. This analysis was carried out using calculable chemical structure identifiers developed by the NCI CADD Group, based on hash codes available in the chemoinformatics toolkit CACTVS and a newly developed scoring scheme to define a canonical tautomer for any encountered structure. CACTVS's tautomerism definition, a set of 21 transform rules expressed in SMIRKS line notation, was used, which takes a comprehensive stance as to the possible types of tautomeric interconversion included. Tautomerism was found to be possible for more than 2/3 of the unique structures in the CSDB. A total of 680 million tautomers were calculated from, and including, the original structure records. Tautomerism overlap within the same individual database (i.e. at least one other entry was present that was really only a different tautomeric representation of the same compound) was found at an average rate of 0.3% of the original structure records, with values as high as nearly 2% for some of the databases in CSDB. Projected onto the set of unique structures (by FICuS identifier), this still occurred in about 1.5% of the cases. Tautomeric overlap across all constituent databases in CSDB was found for nearly 10% of the records in the collection.

  10. Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

    PubMed Central

    Brookes, Clare; Lai, Stella; Doherty, Elaine; Love, Donald R.

    2015-01-01

    Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic cancer. This study aimed to assess the predictive capability of in silico programmes and mutation databases in assisting diagnostic laboratories to determine the pathogenicity of sequence-detectable mutations. Methods: Between July 2011 and April 2013, an analysis was undertaken of 13 missense BRCA gene variants that had been detected in patients referred to the Genetic Health Services New Zealand (Northern Hub) for BRCA gene analysis. The analysis involved the use of 13 in silico protein prediction programmes, two in silico transcript analysis programmes and the examination of three BRCA gene databases. Results: In most of the variants, the analysis showed different in silico interpretations. This illustrates the interpretation challenges faced by diagnostic laboratories. Conclusion: Unfortunately, when using online mutation databases and carrying out in silico analyses, there is significant discordance in the classification of some missense variants in the BRCA genes. This discordance leads to complexities in interpreting and reporting these variants in a clinical context. The authors have developed a simple procedure for analysing variants; however, those of unknown significance largely remain unknown. As a consequence, the clinical value of some reports may be negligible. PMID:26052455

  11. Developing a market orientation.

    PubMed

    Hallums, A

    1994-03-01

    Developing a market-orientated organization is a complex task. An organization's market orientation is reflected in its ability to fulfil its customer's needs. The organization must look outside itself and adopt a flexible response to changing needs. This paper will examine what is meant by the term marketing and why it is necessary for an organization to incorporate the marketing concept. Analysis of the organization's culture and its relevance to the development of market orientation will also be considered. Reference will be made to health care where appropriate.

  12. Fast space-variant elliptical filtering using box splines.

    PubMed

    Chaudhury, Kunal Narayan; Munoz-Barrutia, Arrate; Unser, Michael

    2010-09-01

    The efficient realization of linear space-variant (non-convolution) filters is a challenging computational problem in image processing. In this paper, we demonstrate that it is possible to filter an image with a Gaussian-like elliptic window of varying size, elongation and orientation using a fixed number of computations per pixel. The associated algorithm, which is based upon a family of smooth compactly supported piecewise polynomials, the radially-uniform box splines, is realized using preintegration and local finite-differences. The radially-uniform box splines are constructed through the repeated convolution of a fixed number of box distributions, which have been suitably scaled and distributed radially in an uniform fashion. The attractive features of these box splines are their asymptotic behavior, their simple covariance structure, and their quasi-separability. They converge to Gaussians with the increase of their order, and are used to approximate anisotropic Gaussians of varying covariance simply by controlling the scales of the constituent box distributions. Based upon the second feature, we develop a technique for continuously controlling the size, elongation and orientation of these Gaussian-like functions. Finally, the quasi-separable structure, along with a certain scaling property of box distributions, is used to efficiently realize the associated space-variant elliptical filtering, which requires O(1) computations per pixel irrespective of the shape and size of the filter.

  13. Protein ligand interaction database (PLID).

    PubMed

    Reddy, A Srinivas; Amarnath, H S Durga; Bapi, Raju S; Sastry, G Madhavi; Sastry, G Narahari

    2008-10-01

    A comprehensive database named, protein ligand interaction database (PLID), is created with 6295 ligands bound to proteins extracted from the protein data bank (PDB). This is by far the most comprehensive database of physico-chemical properties, quantum mechanical descriptors and the residues present in the active site of proteins. It is a publicly available web-based database (via the Internet) at http://203.199.182.73/gnsmmg/databases/plid/.

  14. The UCSC Genome Browser database: 2016 update

    PubMed Central

    Speir, Matthew L.; Zweig, Ann S.; Rosenbloom, Kate R.; Raney, Brian J.; Paten, Benedict; Nejad, Parisa; Lee, Brian T.; Learned, Katrina; Karolchik, Donna; Hinrichs, Angie S.; Heitner, Steve; Harte, Rachel A.; Haeussler, Maximilian; Guruvadoo, Luvina; Fujita, Pauline A.; Eisenhart, Christopher; Diekhans, Mark; Clawson, Hiram; Casper, Jonathan; Barber, Galt P.; Haussler, David; Kuhn, Robert M.; Kent, W. James

    2016-01-01

    For the past 15 years, the UCSC Genome Browser (http://genome.ucsc.edu/) has served the international research community by offering an integrated platform for viewing and analyzing information from a large database of genome assemblies and their associated annotations. The UCSC Genome Browser has been under continuous development since its inception with new data sets and software features added frequently. Some release highlights of this year include new and updated genome browsers for various assemblies, including bonobo and zebrafish; new gene annotation sets; improvements to track and assembly hub support; and a new interactive tool, the “Data Integrator”, for intersecting data from multiple tracks. We have greatly expanded the data sets available on the most recent human assembly, hg38/GRCh38, to include updated gene prediction sets from GENCODE, more phenotype- and disease-associated variants from ClinVar and ClinGen, more genomic regulatory data, and a new multiple genome alignment. PMID:26590259

  15. The UCSC Genome Browser database: 2016 update.

    PubMed

    Speir, Matthew L; Zweig, Ann S; Rosenbloom, Kate R; Raney, Brian J; Paten, Benedict; Nejad, Parisa; Lee, Brian T; Learned, Katrina; Karolchik, Donna; Hinrichs, Angie S; Heitner, Steve; Harte, Rachel A; Haeussler, Maximilian; Guruvadoo, Luvina; Fujita, Pauline A; Eisenhart, Christopher; Diekhans, Mark; Clawson, Hiram; Casper, Jonathan; Barber, Galt P; Haussler, David; Kuhn, Robert M; Kent, W James

    2016-01-04

    For the past 15 years, the UCSC Genome Browser (http://genome.ucsc.edu/) has served the international research community by offering an integrated platform for viewing and analyzing information from a large database of genome assemblies and their associated annotations. The UCSC Genome Browser has been under continuous development since its inception with new data sets and software features added frequently. Some release highlights of this year include new and updated genome browsers for various assemblies, including bonobo and zebrafish; new gene annotation sets; improvements to track and assembly hub support; and a new interactive tool, the "Data Integrator", for intersecting data from multiple tracks. We have greatly expanded the data sets available on the most recent human assembly, hg38/GRCh38, to include updated gene prediction sets from GENCODE, more phenotype- and disease-associated variants from ClinVar and ClinGen, more genomic regulatory data, and a new multiple genome alignment.

  16. Variant Calling From Next Generation Sequence Data.

    PubMed

    Hansen, Nancy F

    2016-01-01

    The use of next generation nucleotide sequencing to discover and genotype small sequence variants has led to numerous insights into the molecular causes of various diseases. This chapter describes the use of freely available software to align next generation sequencing reads to a reference and then to use the resulting alignments to call, annotate, view, and filter small sequence variants. The suggested variant calling workflow includes read alignment with novoalign, the removal of polymerase chain reaction duplicate sequences with samtools or bamUtils, and the detection of variants with Freebayes or bam2mpg software. ANNOVAR is then used to annotate the predicted variants using gene models, population frequencies, and predicted mutation severity, producing variant files which can be viewed and filtered with the variant display tool VarSifter.

  17. Retrovirus Integration Database (RID): a public database for retroviral insertion sites into host genomes.

    PubMed

    Shao, Wei; Shan, Jigui; Kearney, Mary F; Wu, Xiaolin; Maldarelli, Frank; Mellors, John W; Luke, Brian; Coffin, John M; Hughes, Stephen H

    2016-07-04

    The NCI Retrovirus Integration Database is a MySql-based relational database created for storing and retrieving comprehensive information about retroviral integration sites, primarily, but not exclusively, HIV-1. The database is accessible to the public for submission or extraction of data originating from experiments aimed at collecting information related to retroviral integration sites including: the site of integration into the host genome, the virus family and subtype, the origin of the sample, gene exons/introns associated with integration, and proviral orientation. Information about the references from which the data were collected is also stored in the database. Tools are built into the website that can be used to map the integration sites to UCSC genome browser, to plot the integration site patterns on a chromosome, and to display provirus LTRs in their inserted genome sequence. The website is robust, user friendly, and allows users to query the database and analyze the data dynamically. https://rid.ncifcrf.gov ; or http://home.ncifcrf.gov/hivdrp/resources.htm .

  18. Collective judgment predicts disease-associated single nucleotide variants

    PubMed Central

    2013-01-01

    Background In recent years the number of human genetic variants deposited into the publicly available databases has been increasing exponentially. The latest version of dbSNP, for example, contains ~50 million validated Single Nucleotide Variants (SNVs). SNVs make up most of human variation and are often the primary causes of disease. The non-synonymous SNVs (nsSNVs) result in single amino acid substitutions and may affect protein function, often causing disease. Although several methods for the detection of nsSNV effects have already been developed, the consistent increase in annotated data is offering the opportunity to improve prediction accuracy. Results Here we present a new approach for the detection of disease-associated nsSNVs (Meta-SNP) that integrates four existing methods: PANTHER, PhD-SNP, SIFT and SNAP. We first tested the accuracy of each method using a dataset of 35,766 disease-annotated mutations from 8,667 proteins extracted from the SwissVar database. The four methods reached overall accuracies of 64%-76% with a Matthew's correlation coefficient (MCC) of 0.38-0.53. We then used the outputs of these methods to develop a machine learning based approach that discriminates between disease-associated and polymorphic variants (Meta-SNP). In testing, the combined method reached 79% overall accuracy and 0.59 MCC, ~3% higher accuracy and ~0.05 higher correlation with respect to the best-performing method. Moreover, for the hardest-to-define subset of nsSNVs, i.e. variants for which half of the predictors disagreed with the other half, Meta-SNP attained 8% higher accuracy than the best predictor. Conclusions Here we find that the Meta-SNP algorithm achieves better performance than the best single predictor. This result suggests that the methods used for the prediction of variant-disease associations are orthogonal, encoding different biologically relevant relationships. Careful combination of predictions from various resources is therefore a good strategy

  19. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

    PubMed

    Raza, M Hashim; Domingues, Carlos E F; Webster, Ronald; Sainz, Eduardo; Paris, Emily; Rahn, Rachel; Gutierrez, Joanne; Chow, Ho Ming; Mundorff, Jennifer; Kang, Chang-Soo; Riaz, Naveeda; Basra, Muhammad A R; Khan, Shaheen; Riazuddin, Sheikh; Moretti-Ferreira, Danilo; Braun, Allen; Drayna, Dennis

    2016-04-01

    Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by multiple pathologies. Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering. In a worldwide sample of 1013 unrelated individuals with non-syndromic persistent stuttering we found 164 individuals who carried a rare non-synonymous coding variant in one of these three genes. We compared the frequency of these variants with those in population-matched controls and genomic databases, and their location with those reported in mucolipidosis. Stuttering subjects displayed an excess of non-synonymous coding variants compared to controls and individuals in the 1000 Genomes and Exome Sequencing Project databases. We identified a total of 81 different variants in our stuttering cases. Virtually all of these were missense substitutions, only one of which has been previously reported in mucolipidosis, a disease frequently associated with complete loss-of-function mutations. We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.

  20. Implementing Strategic Orientation

    ERIC Educational Resources Information Center

    Fischer, Arthur K.; Brownback, Sarah

    2012-01-01

    An HRM case dealing with problems and issues of setting up orientation programs which align with corporate strategy. Discussion concerns how such a case can be used to exhibit the alignment between HRM and business strategy.

  1. Orientability and Diffusion Maps

    PubMed Central

    Singer, Amit; Wu, Hau-tieng

    2010-01-01

    One of the main objectives in the analysis of a high dimensional large data set is to learn its geometric and topological structure. Even though the data itself is parameterized as a point cloud in a high dimensional ambient space ℝp, the correlation between parameters often suggests the “manifold assumption” that the data points are distributed on (or near) a low dimensional Riemannian manifold ℳd embedded in ℝp, with d ≪ p. We introduce an algorithm that determines the orientability of the intrinsic manifold given a sufficiently large number of sampled data points. If the manifold is orientable, then our algorithm also provides an alternative procedure for computing the eigenfunctions of the Laplacian that are important in the diffusion map framework for reducing the dimensionality of the data. If the manifold is non-orientable, then we provide a modified diffusion mapping of its orientable double covering. PMID:21765628

  2. Passive orientation apparatus

    DOEpatents

    Spletzer, Barry L.; Fischer, Gary J.; Martinez, Michael A.

    2001-01-01

    An apparatus that can return a payload to a known orientation after unknown motion, without requiring external power or complex mechanical systems. The apparatus comprises a faceted cage that causes the system to rest in a stable position and orientation after arbitrary motion. A gimbal is mounted with the faceted cage and holds the payload, allowing the payload to move relative to the stable faceted cage. The payload is thereby placed in a known orientation by the interaction of gravity with the geometry of the faceted cage, the mass of the system, and the motion of the payload and gimbal. No additional energy, control, or mechanical actuation is required. The apparatus is suitable for use in applications requiring positioning of a payload to a known orientation after arbitrary or uncontrolled motion, including remote sensing and mobile robot applications.

  3. Orientations to Reflective Practice.

    ERIC Educational Resources Information Center

    Wellington, Bud; Austin, Patricia

    1996-01-01

    Delineates five orientations to reflective practice: immediate, technical, deliberative, dialectic, and transpersonal, each reflecting different social science bases and beliefs and values about education. Views them as interactive, interdependent, noncompeting, aspects of reflective practice. (SK)

  4. Orientations to Reflective Practice.

    ERIC Educational Resources Information Center

    Wellington, Bud; Austin, Patricia

    1996-01-01

    Delineates five orientations to reflective practice: immediate, technical, deliberative, dialectic, and transpersonal, each reflecting different social science bases and beliefs and values about education. Views them as interactive, interdependent, noncompeting, aspects of reflective practice. (SK)

  5. MaizeGDB update: New tools, data, and interface for the maize model organism database

    USDA-ARS?s Scientific Manuscript database

    MaizeGDB is a highly curated, community-oriented database and informatics service to researchers focused on the crop plant and model organism Zea mays ssp. mays. Although some form of the maize community database has existed over the last 25 years, there have only been two major releases. In 1991, ...

  6. @neuLink: a service-oriented application for biomedical knowledge discovery.

    PubMed

    Friedrich, Christoph M; Dach, Holger; Gattermayer, Tobias; Engelbrecht, Gerhard; Benkner, Siegfried; Hofmann-Apitius, Martin

    2008-01-01

    We introduce the architecture of @neuLink, a service-oriented environment for biomedical knowledge discovery which has been developed in the course of EU Integrated Project @neurIST. The application integrates data from databases with information extracted from unstructured text sources. Moreover, @neuLink supports the analysis of primary biomolecular data associated with individual patients and thus enables the interpretation of molecular data inside a clinical research environment. Based on an assembly of data services, @neuLink interacts with the complex @neurIST grid infrastructure through a dedicated data access and data mediation service. Data types integrated by @neuLink are covering the entire span of biomolecular entities: from gene names in text to entries in EntrezGene; from mentions of drugs to Drugbank, from information on allelic variants in scientific literature to entries in dbSNP. The architecture of @neuLink allows easy integration of other webservice-based applications and thus the spectrum of analysis capabilities of @neuLink can be extended following the requirements of the users of the @neurIST system.

  7. JICST Factual DatabaseJICST Chemical Substance Safety Regulation Database

    NASA Astrophysics Data System (ADS)

    Abe, Atsushi; Sohma, Tohru

    JICST Chemical Substance Safety Regulation Database is based on the Database of Safety Laws for Chemical Compounds constructed by Japan Chemical Industry Ecology-Toxicology & Information Center (JETOC) sponsored by the Sience and Technology Agency in 1987. JICST has modified JETOC database system, added data and started the online service through JOlS-F (JICST Online Information Service-Factual database) in January 1990. JICST database comprises eighty-three laws and fourteen hundred compounds. The authors outline the database, data items, files and search commands. An example of online session is presented.

  8. Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates

    PubMed Central

    Shima, James E.; Komori, Takafumi; Taylor, Travis R.; Stryke, Doug; Kawamoto, Michiko; Johns, Susan J.; Carlson, Elaine J.; Ferrin, Thomas E.

    2010-01-01

    Apical reabsorption from the urine has been shown to be important for such processes as the maintenance of critical metabolites in the blood and the excretion of nephrotoxic compounds. The solute carrier (SLC) transporter OAT4 (SLC22A11) is expressed on the apical membrane of renal proximal tubule cells and is known to mediate the transport of a variety of xenobiotic and endogenous organic anions. Functional characterization of genetic variants of apical transporters thought to mediate reabsorption, such as OAT4, may provide insight into the genetic factors influencing the complex pathways involved in drug elimination and metabolite reclamation occurring in the kidney. Naturally occurring genetic variants of OAT4 were identified in public databases and by resequencing DNA samples from 272 individuals comprising 4 distinct ethnic groups. Nine total nonsynonymous variants were identified and functionally assessed using uptake of three radiolabeled substrates. A nonsense variant, R48Stop, and three other variants (R121C, V155G, and V155M) were found at frequencies of at least 2% in an ethnic group specific fashion. The L29P, R48Stop, and H469R variants displayed a complete loss of function, and kinetic analysis identified a reduced Vmax in the common nonsynonymous variants. Plasma membrane levels of OAT4 protein were absent or reduced in the nonfunctional variants, providing a mechanistic reason for the observed loss of function. Characterization of the genetic variants of reabsorptive transporters such as OAT4 is an important step in understanding variability in tubular reabsorption with important implications in innate homeostatic processes and drug disposition. PMID:20668102

  9. Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates.

    PubMed

    Shima, James E; Komori, Takafumi; Taylor, Travis R; Stryke, Doug; Kawamoto, Michiko; Johns, Susan J; Carlson, Elaine J; Ferrin, Thomas E; Giacomini, Kathleen M

    2010-10-01

    Apical reabsorption from the urine has been shown to be important for such processes as the maintenance of critical metabolites in the blood and the excretion of nephrotoxic compounds. The solute carrier (SLC) transporter OAT4 (SLC22A11) is expressed on the apical membrane of renal proximal tubule cells and is known to mediate the transport of a variety of xenobiotic and endogenous organic anions. Functional characterization of genetic variants of apical transporters thought to mediate reabsorption, such as OAT4, may provide insight into the genetic factors influencing the complex pathways involved in drug elimination and metabolite reclamation occurring in the kidney. Naturally occurring genetic variants of OAT4 were identified in public databases and by resequencing DNA samples from 272 individuals comprising 4 distinct ethnic groups. Nine total nonsynonymous variants were identified and functionally assessed using uptake of three radiolabeled substrates. A nonsense variant, R48Stop, and three other variants (R121C, V155G, and V155M) were found at frequencies of at least 2% in an ethnic group specific fashion. The L29P, R48Stop, and H469R variants displayed a complete loss of function, and kinetic analysis identified a reduced V(max) in the common nonsynonymous variants. Plasma membrane levels of OAT4 protein were absent or reduced in the nonfunctional variants, providing a mechanistic reason for the observed loss of function. Characterization of the genetic variants of reabsorptive transporters such as OAT4 is an important step in understanding variability in tubular reabsorption with important implications in innate homeostatic processes and drug disposition.

  10. UNISOR Nuclear Orientation Facility

    SciTech Connect

    Girit, I.C.

    1988-01-01

    The combination of an on-line isotope separator and a dilution refrigerator has increased the applicability of the nuclear orientation technique to a wide range of nuclei, especially those very far from stability. The UNISOR Nuclear Orientation Facility (UNISOR/NOF) is among the two (the other being NICOLE at CERN) that have recently become operational. The following is an overall view of the UNISOR system and recent results. 24 refs., 3 figs.

  11. The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.

    PubMed

    Saul, Robert; Lutz, Michael W; Burns, Daniel K; Roses, Allen D; Chiba-Falek, Ornit

    2016-09-01

    Short structural variants (SSVs) are short genomic variants (<50 bp) other than SNPs. It has been suggested that SSVs contribute to many human complex traits. However, high-throughput analysis of SSVs presents numerous technical challenges. In order to facilitate the discovery and assessment of SSVs, we have developed a prototype bioinformatics tool, "SSV evaluation system," which is a searchable, annotated database of SSVs in the human genome, with associated customizable scoring software that is used to evaluate and prioritize SSVs that are most likely to have significant biological effects and impact on disease risk. This new bioinformatics tool is a component in a larger strategy that we have been using to discover potentially important SSVs within candidate genomic regions that have been identified in genome-wide association studies, with the goal to prioritize potential functional/causal SSVs and focus the follow-up experiments on a relatively small list of strong candidate SSVs. We describe our strategy and discuss how we have used the SSV evaluation system to discover candidate causal variants related to complex neurodegenerative diseases. We present the SSV evaluation system as a powerful tool to guide genetic investigations aiming to uncover SSVs that underlie human complex diseases including neurodegenerative diseases in aging.

  12. ARTI Refrigerant Database

    SciTech Connect

    Calm, J.M.

    1992-11-09

    The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air- conditioning and refrigeration equipment. The database identifies sources of specific information on R-32, R-123, R-124, R-125, R-134, R-134a, R-141b, R-142b, R-143a, R-152a, R-245ca, R-290 (propane), R- 717 (ammonia), ethers, and others as well as azeotropic and zeotropic and zeotropic blends of these fluids. It addresses lubricants including alkylbenzene, polyalkylene glycol, ester, and other synthetics as well as mineral oils. It also references documents on compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits. A computerized version is available that includes retrieval software.

  13. Molecular interaction databases.

    PubMed

    Orchard, Sandra

    2012-05-01

    Molecular interaction databases are playing an ever more important role in our understanding of the biology of the cell. An increasing number of resources exist to provide these data and many of these have adopted the controlled vocabularies and agreed-upon standardised data formats produced by the Molecular Interaction workgroup of the Human Proteome Organization Proteomics Standards Initiative (HUPO PSI-MI). Use of these standards allows each resource to establish PSI Common QUery InterfaCe (PSICQUIC) service, making data from multiple resources available to the user in response to a single query. This cooperation between databases has been taken a stage further, with the establishment of the International Molecular Exchange (IMEx) consortium which aims to maximise the curation power of numerous data resources, and provide the user with a non-redundant, consistently annotated set of interaction data. © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Protein Model Database

    SciTech Connect

    Fidelis, K; Adzhubej, A; Kryshtafovych, A; Daniluk, P

    2005-02-23

    The phenomenal success of the genome sequencing projects reveals the power of completeness in revolutionizing biological science. Currently it is possible to sequence entire organisms at a time, allowing for a systemic rather than fractional view of their organization and the various genome-encoded functions. There is an international plan to move towards a similar goal in the area of protein structure. This will not be achieved by experiment alone, but rather by a combination of efforts in crystallography, NMR spectroscopy, and computational modeling. Only a small fraction of structures are expected to be identified experimentally, the remainder to be modeled. Presently there is no organized infrastructure to critically evaluate and present these data to the biological community. The goal of the Protein Model Database project is to create such infrastructure, including (1) public database of theoretically derived protein structures; (2) reliable annotation of protein model quality, (3) novel structure analysis tools, and (4) access to the highest quality modeling techniques available.

  15. Large databases in anaesthesiology.

    PubMed

    Dutton, Richard P

    2015-12-01

    The purpose of this study is to review the current state of large database research in anaesthesiology and to describe the evolution of the National Anesthesia Clinical Outcomes Registry (NACOR) in the USA. The Anesthesia Quality Institute of the American Society of Anesthesiologists was created to develop a national anaesthesia registry for the USA. NACOR and the companion Anesthesia Incident Reporting System are now 5 years old and in daily use by hundreds of US practices. The 30 million cases in NACOR are an emerging source for 'big data' research in anaesthesiology. The Information Age is bringing new capabilities for large database research to the specialty of anaesthesiology, driven by the formation of registries capable of capturing a large fraction of all cases performed.

  16. NoSQL technologies for the CMS Conditions Database

    NASA Astrophysics Data System (ADS)

    Sipos, Roland

    2015-12-01

    With the restart of the LHC in 2015, the growth of the CMS Conditions dataset will continue, therefore the need of consistent and highly available access to the Conditions makes a great cause to revisit different aspects of the current data storage solutions. We present a study of alternative data storage backends for the Conditions Databases, by evaluating some of the most popular NoSQL databases to support a key-value representation of the CMS Conditions. The definition of the database infrastructure is based on the need of storing the conditions as BLOBs. Because of this, each condition can reach the size that may require special treatment (splitting) in these NoSQL databases. As big binary objects may be problematic in several database systems, and also to give an accurate baseline, a testing framework extension was implemented to measure the characteristics of the handling of arbitrary binary data in these databases. Based on the evaluation, prototypes of a document store, using a column-oriented and plain key-value store, are deployed. An adaption layer to access the backends in the CMS Offline software was developed to provide transparent support for these NoSQL databases in the CMS context. Additional data modelling approaches and considerations in the software layer, deployment and automatization of the databases are also covered in the research. In this paper we present the results of the evaluation as well as a performance comparison of the prototypes studied.

  17. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

    PubMed Central

    Viennas, Emmanouil; Komianou, Angeliki; Mizzi, Clint; Stojiljkovic, Maja; Mitropoulou, Christina; Muilu, Juha; Vihinen, Mauno; Grypioti, Panagiota; Papadaki, Styliani; Pavlidis, Cristiana; Zukic, Branka; Katsila, Theodora; van der Spek, Peter J.; Pavlovic, Sonja; Tzimas, Giannis; Patrinos, George P.

    2017-01-01

    FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we report significant new developments in FINDbase, namely (i) the release of a new version of the ETHNOS software that catalyzes development curation of national/ethnic genetic databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnic mutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com) software (iii) new data visualization tools and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics. The abovementioned updates further enhance the impact of FINDbase, as a key resource for Genomic Medicine applications. PMID:27924022

  18. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.

    PubMed

    Viennas, Emmanouil; Komianou, Angeliki; Mizzi, Clint; Stojiljkovic, Maja; Mitropoulou, Christina; Muilu, Juha; Vihinen, Mauno; Grypioti, Panagiota; Papadaki, Styliani; Pavlidis, Cristiana; Zukic, Branka; Katsila, Theodora; van der Spek, Peter J; Pavlovic, Sonja; Tzimas, Giannis; Patrinos, George P

    2017-01-04

    FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we report significant new developments in FINDbase, namely (i) the release of a new version of the ETHNOS software that catalyzes development curation of national/ethnic genetic databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnic mutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com) software (iii) new data visualization tools and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics. The abovementioned updates further enhance the impact of FINDbase, as a key resource for Genomic Medicine applications. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  19. Unified Database Development Program.

    DTIC Science & Technology

    1984-03-01

    unified database (UDB) program was to develop an automated system that would be useful to those responsible for the design , development, testing, and...weapon system design . Baekgound The Air Force is concerned with the lack of adequate logistics consideration during the weapon system design process. To...produce a weapon system with optimal cost and mission effectiveness, logistics factors must be considered very early and throughout the system design

  20. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1996-11-15

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. It consolidates and facilitates access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufacturers and those using alternative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  1. Real Time Baseball Database

    NASA Astrophysics Data System (ADS)

    Fukue, Yasuhiro

    The author describes the system outline, features and operations of "Nikkan Sports Realtime Basaball Database" which was developed and operated by Nikkan Sports Shimbun, K. K. The system enables to input numerical data of professional baseball games as they proceed simultaneously, and execute data updating at realtime, just-in-time. Other than serving as supporting tool for prepareing newspapers it is also available for broadcasting media, general users through NTT dial Q2 and others.

  2. Electronic Journals as Databases

    NASA Astrophysics Data System (ADS)

    Holl, A.

    2004-07-01

    The Information Bulletin on Variable Stars is a bulletin fully available in electronic form. We are working on converting the text, tables and figures of the papers published into a database, and, at the same time, making them accessible and addressable. IBVS Data Service will provide information on variable stars --- like finding charts, light curves --- and will be VO compatible. Other services could link to individual figures, data files, etc. this way.

  3. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1996-01-15

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. it consolidates and facilitates.access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufacturers and those using alternative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  4. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1999-01-01

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. It consolidates and facilities access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufacturers and those using alternative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  5. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1996-07-01

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. It consolidates and facilitates access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufacturers and those using alternative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern.

  6. The Danish Melanoma Database

    PubMed Central

    Hölmich, Lisbet Rosenkrantz; Klausen, Siri; Spaun, Eva; Schmidt, Grethe; Gad, Dorte; Svane, Inge Marie; Schmidt, Henrik; Lorentzen, Henrik Frank; Ibfelt, Else Helene

    2016-01-01

    Aim of database The aim of the database is to monitor and improve the treatment and survival of melanoma patients. Study population All Danish patients with cutaneous melanoma and in situ melanomas must be registered in the Danish Melanoma Database (DMD). In 2014, 2,525 patients with invasive melanoma and 780 with in situ tumors were registered. The coverage is currently 93% compared with the Danish Pathology Register. Main variables The main variables include demographic, clinical, and pathological characteristics, including Breslow’s tumor thickness, ± ulceration, mitoses, and tumor–node–metastasis stage. Information about the date of diagnosis, treatment, type of surgery, including safety margins, results of lymphoscintigraphy in patients for whom this was indicated (tumors > T1a), results of sentinel node biopsy, pathological evaluation hereof, and follow-up information, including recurrence, nature, and treatment hereof is registered. In case of death, the cause and date are included. Currently, all data are entered manually; however, data catchment from the existing registries is planned to be included shortly. Descriptive data The DMD is an old research database, but new as a clinical quality register. The coverage is high, and the performance in the five Danish regions is quite similar due to strong adherence to guidelines provided by the Danish Melanoma Group. The list of monitored indicators is constantly expanding, and annual quality reports are issued. Several important scientific studies are based on DMD data. Conclusion DMD holds unique detailed information about tumor characteristics, the surgical treatment, and follow-up of Danish melanoma patients. Registration and monitoring is currently expanding to encompass even more clinical parameters to benefit both patient treatment and research. PMID:27822097

  7. COBE Astronomical Databases

    NASA Astrophysics Data System (ADS)

    Freedman, I.; Raugh, A. C.; Cheng, E. S.

    A project to store and convert external astronomical survey maps to the Cosmic Background Explorer (COBE) spacecraft pixelization is described. Established software is reused in order to reduce development costs. The proposed packages and systems include the Image Reduction and Analysis Facility (IRAF), Interactive Data Language Astronomy Library (IDL), the FITSIO data transfer package and the Astronomical Image Processing System (AIPS). The software structure of the astronomical databases, projected conversion schemes, quality assurance procedures and outstanding problems will be discussed.

  8. Developing customer databases.

    PubMed

    Rao, S K; Shenbaga, S

    2000-01-01

    There is a growing consensus among pharmaceutical companies that more product and customer-specific approaches to marketing and selling a new drug can result in substantial increases in sales. Marketers and researchers taking a proactive micro-marketing approach to identifying, profiling, and communicating with target customers are likely to facilitate such approaches and outcomes. This article provides a working framework for creating customer databases that can be effectively mined to achieve a variety of such marketing and sales force objectives.

  9. Toxicity Reference Database

    EPA Pesticide Factsheets

    The Toxicity Reference Database (ToxRefDB) contains approximately 30 years and $2 billion worth of animal studies. ToxRefDB allows scientists and the interested public to search and download thousands of animal toxicity testing results for hundreds of chemicals that were previously found only in paper documents. Currently, there are 474 chemicals in ToxRefDB, primarily the data rich pesticide active ingredients, but the number will continue to expand.

  10. Pheno4J: a gene to phenotype graph database.

    PubMed

    Mughal, Sajid; Moghul, Ismail; Yu, Jing; Clark, Tristan; Gregory, David S; Pontikos, Nikolas

    2017-06-15

    Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and querying of large volumes of structured genetic and phenotypic data. This abstracts technical problems away and lets researchers focus on the science rather than the implementation. We have also developed an accompanying webserver with end-points to facilitate querying of the database. The Java code and python code is available at https://github.com/phenopolis/pheno4j. n.pontikos@ucl.ac.uk. Supplementary data are available at Bioinformatics online.

  11. The Southern California Fault Activity Database

    NASA Astrophysics Data System (ADS)

    Perry, S. C.; Silva, M. P.

    2001-12-01

    The Southern California Fault Activity Database (SCFAD) will supply WEB-accessible data about active faults throughout southern California, an essential resource for basic research and earthquake hazard mitigation. The SCFAD is funded by the Southern California Earthquake Center (SCEC) to compile and summarize published data pertaining to each fault's slip rate, recurrence interval, slip per event, and known damaging earthquakes, as well as fault location, orientation, and sense of movement. It is based predominantly, but not exclusively, on paleoseismic studies. In addition, the SCFAD archives publications and unpublished data, provides a forum for continuing discussion about fault activity, and highlights needed future research directions. A key goal is to develop a single, consistent representation of the region's faults. Thus, the SCFAD has contributed to, and is designed to coordinate with, databases of the California Division of Mines and Geology, the National Hazard Mapping Program, and 3-D fault geometry models of SCEC's Regional Earthquake Likelihood Models (RELM) project. The SCFAD builds on several existing databases, particularly a Web-based database of Los Angeles basin faults constructed by Ponti, Hecker, Kendrick, and Hamilton at the U. S. Geological Survey. The SCFAD is implemented using FileMaker Pro (v. 5) as a database management system (DBMS) which resides on a Windows 2000 server. The SCFAD will soon be available on-line, viewable through any W3C-compliant Internet browser. Please keep apprised of SCFAD progress at www.relm.org. Collaborations are fundamental to the SCFAD's mission, and we encourage you to participate in the SCFAD's continued growth through use, contributions, and comments.

  12. A global database of soil respiration data

    SciTech Connect

    Bond-Lamberty, Benjamin; Thomson, Allison M.

    2010-06-16

    Soil respiration—RS, the flux of autotropically- and heterotrophically-generated CO2 from the soil to the atmosphere—remains the least well-constrained component of the terrestrial C cycle. Here we introduce the SRDB database, a near-universal compendium of published RS data, and make it available to the scientific community both as a traditional static archive and as a dynamic community database that will be updated over time by interested users. The database encompasses all published studies that report one of the following data measured in the field (not laboratory): annual RS, mean seasonal RS, a seasonal or annual partitioning of RS into its sources fluxes, RS temperature response (Q10), or RS at 10 °C. Its orientation is thus to seasonal and annual fluxes, not shorter-term or chamber-specific measurements. To date, data from 818 studies have been entered into the database, constituting 3379 records. The data span the measurement years 1961-2007 and are dominated by temperate, well-drained forests. We briefly examine some aspects of the SRDB data—mean annual RS fluxes and their correlation with other carbon fluxes, RS variability, temperature sensitivities, and the partitioning of RS source flux–and suggest some potential lines of research that could be explored using these data. The SRDB database described here is available online in a permanent archive as well as via a project-hosting repository; the latter source leverages open-source software technologies to encourage wider participation in the database’s future development. Ultimately, we hope that the updating of, and corrections to, the SRDB will become a shared project, managed by the users of these data in the scientific community.

  13. Assigning Main Orientation to an EOH Descriptor on Multispectral Images

    PubMed Central

    Li, Yong; Shi, Xiang; Wei, Lijun; Zou, Junwei; Chen, Fang

    2015-01-01

    This paper proposes an approach to compute an EOH (edge-oriented histogram) descriptor with main orientation. EOH has a better matching ability than SIFT (scale-invariant feature transform) on multispectral images, but does not assign a main orientation to keypoints. Alternatively, it tends to assign the same main orientation to every keypoint, e.g., zero degrees. This limits EOH to matching keypoints between images of translation misalignment only. Observing this limitation, we propose assigning to keypoints the main orientation that is computed with PIIFD (partial intensity invariant feature descriptor). In the proposed method, SIFT keypoints are detected from images as the extrema of difference of Gaussians, and every keypoint is assigned to the main orientation computed with PIIFD. Then, EOH is computed for every keypoint with respect to its main orientation. In addition, an implementation variant is proposed for fast computation of the EOH descriptor. Experimental results show that the proposed approach performs more robustly than the original EOH on image pairs that have a rotation misalignment. PMID:26140348

  14. Fiber pixelated image database

    NASA Astrophysics Data System (ADS)

    Shinde, Anant; Perinchery, Sandeep Menon; Matham, Murukeshan Vadakke

    2016-08-01

    Imaging of physically inaccessible parts of the body such as the colon at micron-level resolution is highly important in diagnostic medical imaging. Though flexible endoscopes based on the imaging fiber bundle are used for such diagnostic procedures, their inherent honeycomb-like structure creates fiber pixelation effects. This impedes the observer from perceiving the information from an image captured and hinders the direct use of image processing and machine intelligence techniques on the recorded signal. Significant efforts have been made by researchers in the recent past in the development and implementation of pixelation removal techniques. However, researchers have often used their own set of images without making source data available which subdued their usage and adaptability universally. A database of pixelated images is the current requirement to meet the growing diagnostic needs in the healthcare arena. An innovative fiber pixelated image database is presented, which consists of pixelated images that are synthetically generated and experimentally acquired. Sample space encompasses test patterns of different scales, sizes, and shapes. It is envisaged that this proposed database will alleviate the current limitations associated with relevant research and development and would be of great help for researchers working on comb structure removal algorithms.

  15. ARTI Refrigerant Database

    SciTech Connect

    Cain, J.M.

    1993-04-30

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern. The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air-conditioning and refrigeration equipment. The complete documents are not included. The database identifies sources of specific information on R-32, R-123, R-124, R-125, R-134, R-134a, R-141b, R-142b, R-143a, R-152a, R-245ca, R-290 (propane), R-717 (ammonia), ethers, and others as well as azeotropic and zeotropic blends of these fluids. It addresses lubricants including alkylbenzene, polyalkylene glycol, ester, and other synthetics as well as mineral oils. It also references documents addressing compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits. Incomplete citations or abstracts are provided for some documents to accelerate availability of the information and will be completed or replaced in future updates.

  16. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1997-02-01

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. It consolidates and facilitates access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufacturers and those using alterative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern. The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air-conditioning and refrigeration equipment. The complete documents are not included, though some may be added at a later date. The database identifies sources of specific information on various refrigerants. It addresses lubricants including alkylbenzene, polyalkylene glycol, polyolester, and other synthetics as well as mineral oils. It also references documents addressing compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits. Incomplete citations or abstracts are provided for some documents. They are included to accelerate availability of the information and will be completed or replaced in future updates.

  17. ARTI refrigerant database

    SciTech Connect

    Calm, J.M.

    1998-08-01

    The Refrigerant Database is an information system on alternative refrigerants, associated lubricants, and their use in air conditioning and refrigeration. It consolidates and facilitates access to property, compatibility, environmental, safety, application and other information. It provides corresponding information on older refrigerants, to assist manufactures and those using alternative refrigerants, to make comparisons and determine differences. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern. The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air-conditioning and refrigeration equipment. The complete documents are not included, though some may be added at a later date. The database identifies sources of specific information on many refrigerants including propane, ammonia, water, carbon dioxide, propylene, ethers, and others as well as azeotropic and zeotropic blends of these fluids. It addresses lubricants including alkylbenzene, polyalkylene glycol, polyolester, and other synthetics as well as mineral oils. It also references documents addressing compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits. Incomplete citations or abstracts are provided for some documents. They are included to accelerate availability of the information and will be completed or replaced in future updates.

  18. The Cambridge Structural Database

    PubMed Central

    Groom, Colin R.; Bruno, Ian J.; Lightfoot, Matthew P.; Ward, Suzanna C.

    2016-01-01

    The Cambridge Structural Database (CSD) contains a complete record of all published organic and metal–organic small-molecule crystal structures. The database has been in operation for over 50 years and continues to be the primary means of sharing structural chemistry data and knowledge across disciplines. As well as structures that are made public to support scientific articles, it includes many structures published directly as CSD Communications. All structures are processed both computationally and by expert structural chemistry editors prior to entering the database. A key component of this processing is the reliable association of the chemical identity of the structure studied with the experimental data. This important step helps ensure that data is widely discoverable and readily reusable. Content is further enriched through selective inclusion of additional experimental data. Entries are available to anyone through free CSD community web services. Linking services developed and maintained by the CCDC, combined with the use of standard identifiers, facilitate discovery from other resources. Data can also be accessed through CCDC and third party software applications and through an application programming interface. PMID:27048719

  19. The Cambridge Structural Database.

    PubMed

    Groom, Colin R; Bruno, Ian J; Lightfoot, Matthew P; Ward, Suzanna C

    2016-04-01

    The Cambridge Structural Database (CSD) contains a complete record of all published organic and metal-organic small-molecule crystal structures. The database has been in operation for over 50 years and continues to be the primary means of sharing structural chemistry data and knowledge across disciplines. As well as structures that are made public to support scientific articles, it includes many structures published directly as CSD Communications. All structures are processed both computationally and by expert structural chemistry editors prior to entering the database. A key component of this processing is the reliable association of the chemical identity of the structure studied with the experimental data. This important step helps ensure that data is widely discoverable and readily reusable. Content is further enriched through selective inclusion of additional experimental data. Entries are available to anyone through free CSD community web services. Linking services developed and maintained by the CCDC, combined with the use of standard identifiers, facilitate discovery from other resources. Data can also be accessed through CCDC and third party software applications and through an application programming interface.

  20. ARTI Refrigerant Database

    SciTech Connect

    Cain, J.M. , Great Falls, VA )

    1993-04-30

    The Refrigerant Database consolidates and facilitates access to information to assist industry in developing equipment using alternative refrigerants. The underlying purpose is to accelerate phase out of chemical compounds of environmental concern. The database provides bibliographic citations and abstracts for publications that may be useful in research and design of air-conditioning and refrigeration equipment. The complete documents are not included. The database identifies sources of specific information on R-32, R-123, R-124, R-125, R-134, R-134a, R-141b, R-142b, R-143a, R-152a, R-245ca, R-290 (propane), R-717 (ammonia), ethers, and others as well as azeotropic and zeotropic blends of these fluids. It addresses lubricants including alkylbenzene, polyalkylene glycol, ester, and other synthetics as well as mineral oils. It also references documents addressing compatibility of refrigerants and lubricants with metals, plastics, elastomers, motor insulation, and other materials used in refrigerant circuits. Incomplete citations or abstracts are provided for some documents to accelerate availability of the information and will be completed or replaced in future updates.