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INFERNO - INFERring the molecular mechanisms of NOncoding genetic variants

By Alexandre Amlie-Wolf, Mitchell Tang, Elisabeth E. Mlynarski, Pavel P. Kuksa, Otto Valladares, Zivadin Katanic, Debby Tsuang, Christopher D. Brown, Gerard D. Schellenberg, Li-San Wang

Posted 30 Oct 2017
bioRxiv DOI: 10.1101/211599 (published DOI: 10.1093/nar/gky686)

The majority of variants identified by genome-wide association studies (GWAS) reside in the noncoding genome, where they affect regulatory elements including transcriptional enhancers. We propose INFERNO (INFERring the molecular mechanisms of NOncoding genetic variants), a novel method which integrates hundreds of diverse functional genomics data sources with GWAS summary statistics to identify putatively causal noncoding variants underlying association signals. INFERNO comprehensively infers the relevant tissue contexts, target genes, and downstream biological processes affected by causal variants. We apply INFERNO to schizophrenia GWAS data, recapitulating known schizophrenia-associated genes including CACNA1C and discovering novel signals related to transmembrane cellular processes.

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