articleNucleic Acids ResearchNov 9, 2022GOLD OA

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

European Bioinformatics Institute · Open Targets · +7 more institutions

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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…

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Authors

30

Topics & keywords

Keywords
  • Genome-wide association study
  • Interoperability
  • Biology
  • Population
  • Metadata
  • Data science
  • Computational biology
  • Computer science
UN Sustainable Development Goals
  • Industry, innovation and infrastructure
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