GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies
journal contributionposted on 2020-02-04, 14:22 authored by Tim Beck, Tom Shorter, Anthony J. Brookes
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.
Health Data Research UK, an initiative funded by UK Research and Innovation, Department of Health and Social Care (England) and the devolved administrations, and leading medical research charities.
T.B. was supported by a UKRI Innovation Fellowship at Health Data Research UK [MR/S003703/1].
CitationNucleic Acids Research, Volume 48, Issue D1, 08 January 2020, Pages D933–D940, https://doi.org/10.1093/nar/gkz895
Author affiliationDepartment of Genetics and Genome Biology
- VoR (Version of Record)