DistQTL: Distribution Quantitative Trait Loci Identification by Population-Scale Single-Cell Data.

ABSTRACT: Mapping expression quantitative trait loci (eQTLs) is a powerful method to study how genetic variation influences gene expression. Traditional bulk eQTL methods rely on averaged gene expression across a possibly heterogeneous mixture of cells, which can obscure underlying regulatory heterogeneity. Single-cell eQTL methods circumvent the averaging artifacts, providing an immense opportunity to interrogate transcriptional regulation at a much finer resolution. Recent developments in metric space regression methods allow the use of full empirical distributions as response objects instead of simple summary statistics such as mean. Here, we leverage Fréchet regression to identify distribution QTLs (distQTLs) using population-scale single-cell RNA sequencing data. We apply distQTL to the OneK1K

SUBMITTER: Coulter A 

PROVIDER: S-EPMC12026582 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature