Quantifying the regulatory effect size of <i>cis</i>-acting genetic variation using allelic fold change.

ABSTRACT: Mapping cis-acting expression quantitative trait loci (cis-eQTL) has become a popular approach for characterizing proximal genetic regulatory variants. In this paper, we describe and characterize log allelic fold change (aFC), the magnitude of expression change associated with a given genetic variant, as a biologically interpretable unit for quantifying the effect size of cis-eQTLs and a mathematically convenient approach for systematic modeling of cis-regulation. This measure is mathematically independent from expression level and allele frequency, additive, applicable to multiallelic variants, and generalizable to multiple independent variants. We provide efficient tools and guidelines for estimating aFC from both eQTL and allelic expression data sets and appl

SUBMITTER: Mohammadi P 

PROVIDER: S-EPMC5668944 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature