Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk.

ABSTRACT: Genome-wide association studies have identified numerous variants associated with human complex traits, most of which reside in the non-coding regions, but biological mechanisms remain unclear. However, assigning function to the non-coding elements is still challenging. Here we apply Activity-by-Contact (ABC) model to evaluate enhancer-gene regulation effect by integrating multi-omics data and identified 544,849 connections across 20 cancer types. ABC model outperforms previous approaches in linking regulatory variants to target genes. Furthermore, we identify over 30,000 enhancer-gene connections in colorectal cancer (CRC) tissues. By integrating large-scale population cohorts (23,813 cases and 29,973 controls) and multipronged functional assays, we demonstrate an ABC regulatory variant r

SUBMITTER: Ying P 

PROVIDER: S-EPMC10520073 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature