The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
No Canadian affiliation. An affiliation-only frame — the usual design — would never have seen this work. It is one of the works that make the case for inverting the frame.
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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
The record
- Venue
- Nucleic Acids Research
- Topic
- Genetic Associations and Epidemiology
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- —
- Funders
- National Institute of Diabetes and Digestive and Kidney DiseasesCanadian Institutes of Health ResearchChief Scientist Office, Scottish Government Health and Social Care DirectorateNational Institutes of HealthDepartment of Health and Social CareHealth and Social Care Research and Development DivisionNational Institute for Health and Care ResearchEuropean Bioinformatics InstituteMedical Research CouncilBiogenCelgeneScottish GovernmentBritish Heart FoundationNational Human Genome Research InstituteWellcome TrustPublic Health AgencyEngineering and Physical Sciences Research CouncilEuropean Molecular Biology LaboratoryNIHR Cambridge Biomedical Research CentreEconomic and Social Research CouncilSanofi
- Keywords
- Genome-wide association studyInteroperabilityBiologyPopulationMetadataData scienceComputational biologyComputer scienceWorld Wide WebGeneticsMedicineSingle-nucleotide polymorphismGene
- Has abstract in OpenAlex
- yes