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title: README
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The NHGRI-EBI Catalog of human genome-wide association studies (GWAS) provides open, FAIR access to the most comprehensive collection of published GWAS results.
The Catalog was established by NHGRI in 2008, in response to the rapid growth in genome-wide association studies. While these studies offer valuable opportunities to explore the role of common genetic variants in complex disease, identifying relevant publications and extracting their findings can be time-consuming. The Catalog addresses this by systematically collecting and summarising reported SNP–trait associations, making the data easier to find, compare, and reuse. The resource is widely used by researchers and clinicians, and also serves as a repository for genome-wide summary statistics datasets, recognised by journals and biobanks, supporting research data sharing.
Eligible GWAS are identified through literature searches and reviewed by expert curators. Key information—including traits studied, significant associations, and sample metadata—is extracted from each publication. New data releases are made every two weeks, and since 2020 the Catalog has also accepted submissions of summary statistics ahead of publication.
The data can be accessed in several ways in addition to these Datasets, including a web interface, flat file downloads and API. Visualisations such as the GWAS diagram provide an overview of SNP–trait associations across the genome. Full genome-wide summary statistics files are available for download from the FTP site and are linked from individual study pages.
Since 2010, the Catalog has been developed jointly by EMBL-EBI and NHGRI, with EMBL-EBI hosting the website and infrastructure. A dedicated content team curates the data, carries out quality control, and assists users, working alongside software developers. The project is led by Helen Parkinson at EMBL-EBI and Michael Inouye at the University of Cambridge, with additional support from NHGRI staff. The GWAS Catalog is recognised as both an Elixir Core Data Resource and a Global Core Biodata Resource, and benefits from guidance provided by an independent Scientific Advisory Board.