Biological interpretation of genome-wide association studies using predicted gene functions.

Pers TH1, Karjalainen JM2, Chan Y3, Westra HJ4, Wood AR5, Yang J6, Lui JC7, Vedantam S1, Gustafsson S8, Esko T9, Frayling T5, Speliotes EK10; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Boehnke M11, Raychaudhuri S12, Fehrmann RS2, Hirschhorn JN3, Franke L2.

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Abstract

The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.