Identifying genetic loci behind common human disease and understanding their mechanisms of action is the driving factor for much of biological research worldwide. The GWAS Catalog makes available the results from genome-wide association studies (GWAS) in a consistent, searchable format, enabling investigators to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. Over the last 2 years we have significantly extended the scope of the Catalog, including all associations (full p-value summary statistics) from each study, when available, rather than only the most significant. To improve access to these complex data we have released a newly redesigned web-based query interface, a RESTful API for computational access and integrated access to full association datasets.

The new query interface is designed to provide users with intuitive access to more specific and relevant GWAS Catalog data. New pages summarise data related to each specific disease, genetic variant or GWAS. These pages include additional detail and context that were previously unavailable, along with new visualisation tools to support users in follow-on analyses. You can find additional information on new functionality in our FAQs or new tutorial.

New GWAS Catalog query interface with illustrative query for "diabetes" and trait page for "type II diabetes mellitus"

A new RESTful API provides computational access to GWAS Catalog data. Full details and worked examples can be found on the website.

We also now provide improved searchable access to summary statistics for GWAS Catalog studies. Selected summary statistics are now available in a standardised and harmonised format with access via our summary statistics REStful API. This provides users with rapid querying and filtering of association results across multiple GWAS.

We’d love to hear what you think of these new features. Please let us know by e-mailing gwas-info@ebi.ac.uk.

We also encourage authors of GWAS Catalog studies to contact us if they have summary statistics that are not already included in the Catalog.

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