DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants.

ABSTRACT:

Background

Genome-wide association studies (GWAS) have revealed a multitude of candidate genetic variants affecting the risk of developing complex traits and diseases. However, the highlighted regions are typically in the non-coding genome, and uncovering the functional causative single nucleotide variants (SNVs) is challenging. Prioritization of variants is commonly based on genomic annotation with markers of active regulatory elements, but current approaches still poorly predict functional variants. To address this, we systematically analyze six markers of active regulatory elements for their ability to identify functional variants.

Results

We benchmark against molecular quantitative trait loci (molQTL) from assays of regulatory element activity that identify allelic effec

SUBMITTER: Biddie SC 

PROVIDER: S-EPMC11304670 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature