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

• Published in: Nucleic acids research Vol. 48; no. D1; pp. D933 - D940
• Main Authors: Beck, Tim, Shorter, Tom, Brookes, Anthony J
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 08.01.2020
• Subjects: Computational Biology - methods; Database Issue; Databases, Genetic; Gene Ontology; Genome-Wide Association Study - methods; Genomics - methods; Genotype; Phenotype; Software; Software Design; User-Computer Interface; Web Browser
• ISSN: 0305-1048; 1362-4962; 1362-4962
• DOI: 10.1093/nar/gkz895

Abstract 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.