Genome-wide enhancer maps link risk variants to disease genes.

ABSTRACT: Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease¹. Many of the underlying causal variants may affect enhancers^2,3, but we lack accurate maps of enhancers and their target genes to interpret such variants. We recently developed the activity-by-contact (ABC) model to predict which enhancers regulate which genes and validated the model using CRISPR perturbations in several cell types⁴. Here we apply this ABC model to create enhancer-gene maps in 131 human cell types and tissues, and use these maps to interpret the functions of GWAS variants. Across 72 diseases and complex traits, ABC links 5,036 GWAS s

SUBMITTER: Nasser J 

PROVIDER: S-EPMC9153265 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature