Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms.

ABSTRACT:

Background

Understanding the genetic causes underlying variability in chromatin accessibility can shed light on the molecular mechanisms through which genetic variants may affect complex traits. Thousands of ATAC-seq samples have been collected that hold information about chromatin accessibility across diverse cell types and contexts, but most of these are not paired with genetic information and come from distinct projects and laboratories.

Results

We report here joint genotyping, chromatin accessibility peak calling, and discovery of quantitative trait loci which influence chromatin accessibility (caQTLs), demonstrating the capability of performing caQTL analysis on a large scale in a diverse sample set without pre-existing genotype information. Using 10,293 profiling sampl

SUBMITTER: Wenz BM 

PROVIDER: S-EPMC11956263 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature