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G4L Initiative

This program is part of the Genomes4Life initiative at the Broad Institute, which includes parallel exome sequencing efforts in psychiatric and cardiometabolic disease. Data sharing with these other programs will enable maximum power and efficiency by using a 2:1 (or higher) case:control ratio for some elements of this IBD program, and power will be further advanced with technical and allele frequency data from nearly 100,000 exomes already sequenced.

The longterm aim of this program is a complete assessment of the role of rare coding variation to IBD risk and protection. This will include articulation of the full allelic series at the nearly 200 genes identified by GWAS – characterizing the role of each gene in disease and in some cases allowing the immediate identification of actionable therapeutic hypotheses – as well as genes with high-impact variation not yet flagged by GWAS studies. In order to achieve these ultimate goals, we are setting up a collaborative infrastructure for exome sequencing studies based on the successful model of the International IBD Genetics Consortium and other genetics consortia and to provide sequencing and analysis support for many such studies.