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

Tune H. Pers, Juha M. Karjalainen, Yingleong Chan, Harm-Jan Westra, Andrew R. Wood, Jian Yang, Julian C. Lui, Sailaja Svedantam, Stefan Gustafsson, Tonu Esko, Tim Frayling, Elizabeth K. Speliotes, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Michael Boehnke, Soumya Raychaudhuri, Rudolf S.N. Fehrmann, Joel N. Hirschhorn* and Lude Franke*

*Equal contributions

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.

Nature Communications 6, Article number: 5890 doi:10.1038/ncomms6890