User-focused development of the NHGRI-EBI Genome-Wide Association Studies Catalog

Le résumé fourni par la source

The NHGRI-EBI GWAS Catalog is a comprehensive and widely-used database of published genome-wide association studies (GWAS), providing links between genetic loci and complex traits. As of December 2018, the Catalog contains over 3,600 publications and 81,000 unique SNP-trait associations. The increasing complexity of GWAS publications in recent years presents challenges for the accurate and user-friendly display of Catalog data. To meet this challenge, we engaged with the GWAS community to develop a new user interface, released in September 2018. We analysed the most common search terms and conducted user interviews to define and prioritise improvements. We also published a “labs” site for users to test proposed features and conducted face-to-face user testing throughout the development process. Following release, we sought feedback and continued to make incremental changes in response to users’ needs. The new interface enables more specific and intuitive access to Catalog data. Individual pages for each publication, study, trait, variant and gene, allow us to make available information tailored to each of these key concepts. Each page includes supporting information to provide context, a table of associations and links to external resources. New visualisations support further analyses of Catalog data. A plot of the linkage disequilibrium landscape allows users to investigate a region of association tagged by a GWAS variant and prioritise causal variants. Users can also visualise associations across the genome by trait in a LocusZoom plot. The GWAS Catalog now hosts full p-value summary statistics in addition to curated associations. Access to summary statistics is now integrated within the user interface, providing users with direct links to available files, in addition to API access. These changes respond to developments in the GWAS field as well as user feedback and will ensure that the GWAS Catalog continues to be a valuable resource for the scientific community.

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