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Abstract
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7 000 publications for >15 000 traits, from which more than 625 000 lead associations have been curated. Additionally, 85 000 full genome-wide summary statistics datasets—containing association data for all variants in the analysis—are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores. As a centralised repository for GWAS results, the GWAS Catalog sets and implements standards for data submission and harmonisation, and encourages the use of consistent descriptors for traits, samples and methodologies. We share processes and vocabulary with the PGS Catalog, improving interoperability for a growing user group. Here, we describe the latest changes in data content, improvements in our user interface, and the implementation of the GWAS-SSF standard format for summary statistics. We address the challenges of handling the rapid increase in large-scale molecular quantitative trait GWAS and the need for sensitivity in the use of population and cohort descriptors while maintaining data interoperability and reusability.
Academic Publication The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
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The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Curre...
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What is the core focus of the research titled 'The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity'?
This literature focuses on: Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7 000 publications for ...
Are there open-source GitHub repositories related to The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity?
Yes, open-source projects like haydenbleasel/files-sdk (A unified storage SDK for object and blob backends. One small, honest API. Web-standards I/O.) are actively building upon these concepts.
Which startups are commercializing the technology behind The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity?
Products like Marmot are bringing this to market. Their focus is: AI-native data catalog with search, lineage and MCP.
What other academic literature is closely related to 'The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity'?
Yes, highly correlated activity was mapped. An entry titled 'The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity' discusses this: Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most c...
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