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The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Elliot Sollis1, Abayomi Mosaku1, Ala Abid1
1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Nucleic Acids Research
|November 9, 2022
Summary
The NHGRI-EBI GWAS Catalog provides FAIR genome-wide association study (GWAS) data, now enhanced with new data types and improved interoperability. This resource supports over 200,000 users annually in genetic research.
Area of Science:
- Genetics and Genomics
- Bioinformatics
- Human Health
Background:
- The NHGRI-EBI GWAS Catalog is a critical resource for genome-wide association study (GWAS) data, serving over 200,000 users annually.
- It hosts extensive variant-trait associations and summary statistics from thousands of published GWAS across numerous human traits.
- The increasing volume of GWAS data necessitates continuous software updates and repository expansion.
Purpose of the Study:
- To detail updates and enhancements to the NHGRI-EBI GWAS Catalog, ensuring its continued utility and scalability.
- To expand the scope of the Catalog to include new data types and improve data interoperability.
- To facilitate broader access and utilization of GWAS data for research, healthcare, and industry.
Main Methods:
- Updating software infrastructure to handle the escalating volume of GWAS data and enable rapid release of summary statistics.
- Expanding the repository to incorporate novel data types such as sequencing-based GWAS, gene-based analyses, and copy number variation analyses.
- Enhancing community outreach to increase shared datasets for under-represented traits and promoting awareness of population diversity in GWAS.
Main Results:
- The GWAS Catalog now supports a greater volume of data and offers rapid release of submitted summary statistics.
- New data types, including sequencing-based GWAS and copy number variation analyses, have been integrated.
- Interoperability has been improved through enhanced trait annotation, links to other resources, and a standardized data format.
Conclusions:
- The NHGRI-EBI GWAS Catalog has successfully scaled its infrastructure and expanded its scope to meet the growing demands of the research community.
- Enhanced data types and improved interoperability increase the value and accessibility of GWAS data.
- Continued efforts in community engagement and data standardization will further advance the utility of the GWAS Catalog for genetic research.
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