GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach.

ABSTRACT:

Motivation

The majority of variation identified by genome wide association studies falls in non-coding genomic regions and is hypothesized to impact regulatory elements that modulate gene expression. Here we present a statistically rigorous software tool GREGOR (Genomic Regulatory Elements and Gwas Overlap algoRithm) for evaluating enrichment of any set of genetic variants with any set of regulatory features. Using variants from five phenotypes, we describe a data-driven approach to determine the tissue and cell types most relevant to a trait of interest and to identify the subset of regulatory features likely impacted by these variants. Last, we experimentally evaluate six predicted functional variants at six lipid-associated loci and demonstrate significant evidence for allele-sp

SUBMITTER: Schmidt EM 

PROVIDER: S-EPMC4612390 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature