The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity.

ABSTRACT: The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7,000 publications for more than 15,000 traits, from which more than 625,000 lead associations have been curated. Additionally, 85,000 full genome-wide summary statistics datasets - containing association data for all variants in the analysis - are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores. As a centralised repository for GWAS results, the GWAS Catalog sets and implements standards for data submission and harmonisation, and encourages the use of consistent descriptors for traits, samples and methodologies

SUBMITTER: Cerezo M 

PROVIDER: S-EPMC11526975 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature