The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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ID: 289701
2018
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Abstract
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.
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Authors Annalisa Buniello, Jacqueline MacArthur, María Cerezo, Laura W. Harris, James Hayhurst, Claudio Malangone, Aoife McMahon, Joannella Morales, Edward Mountjoy, Elliot Sollis, Dániel Süveges, Olga Vrousgou, Patricia L. Whetzel, Ridwan Amode, José Ángel Guillén, Harpreet Singh Riat, Stephen J. Trevanion, Peggy Hall, Heather Junkins, Paul Flicek, Tony Burdett, Lucia A. Hindorff, Fiona Cunningham, Helen Parkinson
Journal Nucleic Acids Research
Year 2018
DOI
10.1093/nar/gky1120
URL
https://academic.oup.com/nar/article-pdf/47/D1/D1005/27437312/gky1120.pdf
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