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GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies

The GWAS Central resource provides a toolkit for integrative access and visualization of a uniquely extensive collection of genome-wide association study data, while ensuring safe open access to prevent research participant identification. GWAS Central is the world's most comprehensive openly a...

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Detalles Bibliográficos
Autores principales: Beck, Tim, Shorter, Tom, Brookes, Anthony J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145571/
https://www.ncbi.nlm.nih.gov/pubmed/31612961
http://dx.doi.org/10.1093/nar/gkz895
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author Beck, Tim
Shorter, Tom
Brookes, Anthony J
author_facet Beck, Tim
Shorter, Tom
Brookes, Anthony J
author_sort Beck, Tim
collection PubMed
description The GWAS Central resource provides a toolkit for integrative access and visualization of a uniquely extensive collection of genome-wide association study data, while ensuring safe open access to prevent research participant identification. GWAS Central is the world's most comprehensive openly accessible repository of summary-level GWAS association information, providing over 70 million P-values for over 3800 studies investigating over 1400 unique phenotypes. The database content comprises direct submissions received from GWAS authors and consortia, in addition to actively gathered data sets from various public sources. GWAS data are discoverable from the perspective of genetic markers, genes, genome regions or phenotypes, via graphical visualizations and detailed downloadable data reports. Tested genetic markers and relevant genomic features can be visually interrogated across up to sixteen multiple association data sets in a single view using the integrated genome browser. The semantic standardization of phenotype descriptions with Medical Subject Headings and the Human Phenotype Ontology allows the precise identification of genetic variants associated with diseases, phenotypes and traits of interest. Harmonization of the phenotype descriptions used across several GWAS-related resources has extended the phenotype search capabilities to enable cross-database study discovery using a range of ontologies. GWAS Central is updated regularly and available at https://www.gwascentral.org.
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spelling pubmed-71455712020-04-13 GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies Beck, Tim Shorter, Tom Brookes, Anthony J Nucleic Acids Res Database Issue The GWAS Central resource provides a toolkit for integrative access and visualization of a uniquely extensive collection of genome-wide association study data, while ensuring safe open access to prevent research participant identification. GWAS Central is the world's most comprehensive openly accessible repository of summary-level GWAS association information, providing over 70 million P-values for over 3800 studies investigating over 1400 unique phenotypes. The database content comprises direct submissions received from GWAS authors and consortia, in addition to actively gathered data sets from various public sources. GWAS data are discoverable from the perspective of genetic markers, genes, genome regions or phenotypes, via graphical visualizations and detailed downloadable data reports. Tested genetic markers and relevant genomic features can be visually interrogated across up to sixteen multiple association data sets in a single view using the integrated genome browser. The semantic standardization of phenotype descriptions with Medical Subject Headings and the Human Phenotype Ontology allows the precise identification of genetic variants associated with diseases, phenotypes and traits of interest. Harmonization of the phenotype descriptions used across several GWAS-related resources has extended the phenotype search capabilities to enable cross-database study discovery using a range of ontologies. GWAS Central is updated regularly and available at https://www.gwascentral.org. Oxford University Press 2020-01-08 2019-10-15 /pmc/articles/PMC7145571/ /pubmed/31612961 http://dx.doi.org/10.1093/nar/gkz895 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Beck, Tim
Shorter, Tom
Brookes, Anthony J
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title_full GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title_fullStr GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title_full_unstemmed GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title_short GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
title_sort gwas central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145571/
https://www.ncbi.nlm.nih.gov/pubmed/31612961
http://dx.doi.org/10.1093/nar/gkz895
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