Expression quantitative trait loci (eQTL) analysis in cancer

Abstract

Expression quantitative trait loci (eQTL) analysis links variations in gene expression levels to genotypes. Analyzing both cis- and trans-eQTLs from tumor samples can provide an intermediate phenotype between genetic variation and complex traits to better understand how risk alleles contribute to tumorigenesis and development. Here we describe a detailed workflow for identifying eQTLs in cancer using existing packages and software. The key package is Matrix eQTL, which requires input data of genotypes, genes expression, and covariates. This pipeline can be easily applied in a related research field.