The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) - PubMed (original) (raw)

. 2017 Jan 4;45(D1):D896-D901.

doi: 10.1093/nar/gkw1133. Epub 2016 Nov 29.

Emily Bowler 1, Maria Cerezo 1, Laurent Gil 1, Peggy Hall 2, Emma Hastings 1, Heather Junkins 2, Aoife McMahon 1, Annalisa Milano 1, Joannella Morales 1, Zoe May Pendlington 1, Danielle Welter 1, Tony Burdett 1, Lucia Hindorff 2, Paul Flicek 1, Fiona Cunningham 1, Helen Parkinson 3

Affiliations

• PMID: 27899670
• PMCID: PMC5210590
• DOI: 10.1093/nar/gkw1133

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

Jacqueline MacArthur et al. Nucleic Acids Res. 2017.

Abstract

The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI. The new infrastructure includes a new graphical user interface (www.ebi.ac.uk/gwas/), ontology supported search functionality and an improved curation interface. These developments have improved the data release frequency by increasing automation of curation and providing scaling improvements. The range of available Catalog data has also been extended with structured ancestry and recruitment information added for all studies. The infrastructure improvements also support scaling for larger arrays, exome and sequencing studies, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.

© The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

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Figures

Figure 1.

A composite diagram showing association and trait search results for ‘cardiovascular disease’ visualized in the user interface and on the GWAS Diagram.

http://www.ebi.ac.uk/gwas/search?query=cardiovascular%20disease

. The diagram can be reached from

http://www.ebi.ac.uk/gwas/diagram

.

Figure 2.

Increasing complexity of GWAS studies over time (A) number of SNP-by-environment interaction studies, (B) number of SNP-by-SNP interaction publications, (C) number of traits per publication, (D) number of ancestry categories each GWAS publication analyzed and (E) number of GWAS analyses per publication. Values were normalized to provide equal weighting to each category.

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