INFERNO: inferring the molecular mechanisms of noncoding genetic variants.

ABSTRACT: The majority of variants identified by genome-wide association studies (GWAS) reside in the noncoding genome, affecting regulatory elements including transcriptional enhancers. However, characterizing their effects requires the integration of GWAS results with context-specific regulatory activity and linkage disequilibrium annotations to identify causal variants underlying noncoding association signals and the regulatory elements, tissue contexts, and target genes they affect. We propose INFERNO, a novel method which integrates hundreds of functional genomics datasets spanning enhancer activity, transcription factor binding sites, and expression quantitative trait loci with GWAS summary statistics. INFERNO includes novel statistical methods to quantify empirical enrichments of tissue-speci

SUBMITTER: Amlie-Wolf A 

PROVIDER: S-EPMC6158604 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature