Several sources of GWAS data are integrated into the portal in order to establish the link between variants and traits/diseases (Figure 1A). Firstly, GWAS studies with summary statistics are retrieved from the NHGRI-EBI GWAS Catalog summary statistics database (N = 300 currently) (7). Due to a lack of suitable reference genotypes for conditional analysis required for non-European populations, full summary statistics are only used for studies that are predominantly of European ancestry. Although most studies to date have been in European populations, we aim to expand the scope of studies in Open Targets Genetics to new populations as soon as large enough reference panels become available. Secondly, two published GWAS analyses utilising UK Biobank data have been integrated: the SAIGE study of 2139 binary (case-control) phenotypes, and the Neale lab study of 1283 quantitative traits (http://www.nealelab.is/uk-biobank) (8). Ingestion of summary statistics includes harmonisation of alleles, genome build liftover, formatting, partitioning and filtering (Figure 1B). Lastly, studies from the NHGRI-EBI GWAS Catalog which do not have summary statistics are also included, adding a further 14 013 studies (7).
