GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

Abstract

To facilitate broad and convenient integrative visualization of and access to GWAS data, we have created the GWAS Central resource (http://www.gwascentral.org). This database seeks to provide a comprehensive collection of summary-level genetic association data, structured both for maximal utility and for safe open access (i.e., non-directional signals to fully preclude research subject identification). The resource emphasizes on advanced tools that allow comparison and discovery of relevant data sets from the perspective of genes, genome regions, phenotypes or traits. Tested markers and relevant genomic features can be visually interrogated across up to 16 multiple association data sets in a single view, starting at a chromosome-wide view and increasing in resolution down to individual bases. In addition, users can privately upload and view their own data as temporary files. Search and display utility is further enhanced by exploiting phenotype ontology annotations to allow genetic variants associated with phenotypes and traits of interest to be precisely identified, across all studies. Data submissions are accepted from individual researchers, groups and consortia, whereas we also actively gather data sets from various public sources. As a result, the resource now provides over 67 million P-values for over 1600 studies, making it the world's largest openly accessible online collection of summary-level GWAS association information.

Figure 1

Data integration example using the GWAS Central graphical browser. (a) The ‘genome view' of four distinct rheumatoid arthritis studies showing regions of association. The coloured bars denote counts of marker P-values below a selected and adjustable threshold. Selecting the peak on chromosome 6 adjacent to the red asterisk zooms in on that section of the genome to give b. (b) The higher resolution ‘region view' of the data provides UCSC RefSeq genes, HapMap SNPs for the various cohorts and Human Genetic Mutation Database rare disease mutations.