Robust identification of regulatory variants (eQTLs) using a differential expression framework developed for RNA-sequencing.

ABSTRACT:

Background

A gap currently exists between genetic variants and the underlying cell and tissue biology of a trait, and expression quantitative trait loci (eQTL) studies provide important information to help close that gap. However, two concerns that arise with eQTL analyses using RNA-sequencing data are normalization of data across samples and the data not following a normal distribution. Multiple pipelines have been suggested to address this. For instance, the most recent analysis of the human and farm Genotype-Tissue Expression (GTEx) project proposes using trimmed means of M-values (TMM) to normalize the data followed by an inverse normal transformation.

Results

In this study, we reasoned that eQTL analysis could be carried out using the same framework used for differentia

SUBMITTER: Marrella MA 

PROVIDER: S-EPMC10161580 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature