A1 Refereed original research article in a scientific journal

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




AuthorsPers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L.; Genetic Investigation of ANthropometric Traits (GIANT) Consortium

Publication year2015

JournalNature Communications

Article number5890

Volume6

Number of pages9

ISSN2041-1723

DOIhttps://doi.org/10.1038/ncomms6890


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.




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