The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource-Reference-Cited by-同舟云学术

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Published:2022-11-09 Issue:D1 Volume:51 Page:D977-D985
ISSN:0305-1048
Container-title:Nucleic Acids Research
language:en
Short-container-title:

Author:

Sollis Elliot¹^ORCID,Mosaku Abayomi¹^ORCID,Abid Ala¹^ORCID,Buniello Annalisa²^ORCID,Cerezo Maria¹^ORCID,Gil Laurent³⁴^ORCID,Groza Tudor¹^ORCID,Güneş Osman¹^ORCID,Hall Peggy⁵,Hayhurst James¹^ORCID,Ibrahim Arwa¹^ORCID,Ji Yue¹^ORCID,John Sajo¹^ORCID,Lewis Elizabeth¹^ORCID,MacArthur Jacqueline A L¹^ORCID,McMahon Aoife¹^ORCID,Osumi-Sutherland David¹^ORCID,Panoutsopoulou Kalliope¹^ORCID,Pendlington Zoë¹^ORCID,Ramachandran Santhi¹^ORCID,Stefancsik Ray¹^ORCID,Stewart Jonathan¹^ORCID,Whetzel Patricia¹^ORCID,Wilson Robert¹^ORCID,Hindorff Lucia⁵^ORCID,Cunningham Fiona¹^ORCID,Lambert Samuel A¹⁶⁷⁴^ORCID,Inouye Michael⁶⁷⁴⁸^ORCID,Parkinson Helen¹^ORCID,Harris Laura W¹^ORCID

Affiliation:

1. European Molecular Biology Laboratory, European Bioinformatics Institute , Wellcome Genome Campus , Hinxton , Cambridge CB10 1SD, UK

2. Open Targets , Wellcome Genome Campus , Hinxton , Cambridge CB10 1SD, UK

3. Wellcome Sanger Institute , Wellcome Genome Campus , Hinxton , Cambridge CB10 1SA, UK

4. Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge , Cambridge , UK

5. Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health , Bethesda , MD 20892, USA

6. Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge , Cambridge , UK

7. British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge , Cambridge , UK

8. Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute , Melbourne , Australia

Abstract

Abstract The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. The Catalog contains variant-trait associations and supporting metadata for >45 000 published GWAS across >5000 human traits, and >40 000 full P-value summary statistics datasets. Content is curated from publications or acquired via author submission of prepublication summary statistics through a new submission portal and validation tool. GWAS data volume has vastly increased in recent years. We have updated our software to meet this scaling challenge and to enable rapid release of submitted summary statistics. The scope of the repository has expanded to include additional data types of high interest to the community, including sequencing-based GWAS, gene-based analyses and copy number variation analyses. Community outreach has increased the number of shared datasets from under-represented traits, e.g. cancer, and we continue to contribute to awareness of the lack of population diversity in GWAS. Interoperability of the Catalog has been enhanced through links to other resources including the Polygenic Score Catalog and the International Mouse Phenotyping Consortium, refinements to GWAS trait annotation, and the development of a standard format for GWAS data.

Funder

National Human Genome Research Institute of the National Institutes of Health

British Heart Foundation

NIHR Cambridge Biomedical Research Centre

European Molecular Biology Laboratory Core Funds

Munz Chair of Cardiovascular Prediction and Prevention and the NIHR Cambridge Biomedical Research Centre

UK Economic and Social Research 878 Council

Canadian Institutes of Health Research

Health Data Research UK** Cambridge

National Institutes of Health

Monarch R24

National Institute of Diabetes and Digestive and Kidney Diseases