The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
European Bioinformatics Institute · National Institutes of Health · +6 more institutions
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 >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…
Citation impact
- FWCI
- 227.04
- Percentile
- 100%
- References
- 41
Authors
23Topics & keywords
- Biology
- Reusability
- Diversity (politics)
- Sustainability
- Computational biology
- Data science
- World Wide Web
- Ecology
Funding
- EMEuropean Molecular Biology Laboratory
- BHBritish Heart Foundation
- DODepartment of Health and Social Care
- PHPublic Health Agency
- NINational Institutes of Health
- CSChief Scientist Office, Scottish Government Health and Social Care Directorate
- MRMedical Research CouncilAward: HDR-23007
- EAEngineering and Physical Sciences Research Council
- EAEconomic and Social Research Council
- HAHealth and Social Care Research and Development Division
- NCNIHR Cambridge Biomedical Research CentreAward: NIHR203312
- NHNational Human Genome Research InstituteAwards: RM1 HG010860, 1U24HG012542-01
- NONIH Office of the DirectorAward: R24 OD011883
- NINational Institute of Diabetes and Digestive and Kidney DiseasesAward: UM1DK105554
- HDHealth Data Research UK