The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
Author Information
Author(s): Cerezo Maria, Sollis Elliot, Ji Yue, Lewis Elizabeth, Abid Ala, Bircan Karatuğ Ozan, Hall Peggy, Hayhurst James, John Sajo, Mosaku Abayomi, Ramachandran Santhi, Foreman Amy, Ibrahim Arwa, McLaughlin James, Pendlington Zoë, Stefancsik Ray, Lambert Samuel A, McMahon Aoife, Morales Joannella, Keane Thomas, Inouye Michael, Parkinson Helen, Harris Laura W
Primary Institution: European Molecular Biology Laboratory, European Bioinformatics Institute
Conclusion
The GWAS Catalog serves as a vital resource for genetic research, providing access to a comprehensive database of human GWAS results and improving data interoperability.
Supporting Evidence
- The GWAS Catalog contains close to 7,000 publications for over 15,000 traits.
- More than 625,000 lead associations have been curated from these publications.
- 85,000 full genome-wide summary statistics datasets are available for downstream analyses.
- The Catalog has been accessed from 205 countries with over 300,000 unique users.
Takeaway
The GWAS Catalog helps scientists find and use genetic data from many studies, making it easier to understand how genes affect health.
Methodology
The GWAS Catalog curates genetic association data from numerous studies, implementing standards for data submission and harmonization.
Potential Biases
There is a risk of bias due to the predominance of European ancestry in GWAS data, which may limit the applicability of findings to other populations.
Limitations
The Catalog's reliance on existing publications may lead to underrepresentation of diverse populations in genetic studies.
Participant Demographics
The Catalog includes studies from various populations, but a significant portion is from European ancestry.
Digital Object Identifier (DOI)
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