EQTL mapping of rare variant associations using RNA-seq data: An evaluation of approaches.

ABSTRACT: Expression quantitative trait loci (eQTL) provide insight on transcription regulation and illuminate the molecular basis of phenotypic outcomes. High-throughput RNA sequencing (RNA-seq) is becoming a popular technique to measure gene expression abundance. Traditional eQTL mapping methods for microarray expression data often assume the expression data follow a normal distribution. As a result, for RNA-seq data, total read count measurements can be normalized by normal quantile transformation in order to fit the data using a linear regression. Other approaches model the total read counts using a negative binomial regression. While these methods work well for common variants (minor allele frequencies > 5% or 1%), an extension of existing methodology is needed to accommodate a collection of ra

SUBMITTER: Lutz SM 

PROVIDER: S-EPMC6776318 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature