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. 2019 Jan 8;47(D1):D1005-D1012.
doi: 10.1093/nar/gky1120.

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

Annalisa Buniello  1   2 , Jacqueline A L MacArthur  1 , Maria Cerezo  1 , Laura W Harris  1 , James Hayhurst  1 , Cinzia Malangone  1 , Aoife McMahon  1 , Joannella Morales  1 , Edward Mountjoy  2   3   4 , Elliot Sollis  1 , Daniel Suveges  1 , Olga Vrousgou  1   2 , Patricia L Whetzel  1 , Ridwan Amode  1 , Jose A Guillen  1 , Harpreet S Riat  1 , Stephen J Trevanion  1 , Peggy Hall  5 , Heather Junkins  5 , Paul Flicek  1 , Tony Burdett  1 , Lucia A Hindorff  5 , Fiona Cunningham  1 , Helen Parkinson  1
Affiliations

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

Annalisa Buniello et al. Nucleic Acids Res. .

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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Figures

Figure 1.
Figure 1.
GWAS Catalog associations for coronary artery disease plotted across all chromosomes. Associations added after 2017 represented in blue, previous associations in orange. The dashed red line indicates genome-wide significance at P-value = 5 × 10−8.
Figure 2.
Figure 2.
The increasing proportion of studies with available SS in the GWAS Catalog and newly added studies in each month from December 2016, when these were first available.
Figure 3.
Figure 3.
Illustrative query results for diabetes mellitus showing: facets for publications and traits linked to the query term (A), a summary of the trait context and ontology definition (B), complete trait information with navigation to studies, associations, LocusZoom and data download link (C), tabulated variants associated with the query (D).
Figure 4.
Figure 4.
Plot of linkage disequilibrium data for variants within 50 kb of rs2981579.
See this image and copyright information in PMC

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