Using genomic annotations increases statistical power to detect eGenes

Motivation: Expression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method to determine whether a gene is an eGene req...

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Bibliographic Details
Main Authors: Duong, Dat, Zou, Jennifer, Hormozdiari, Farhad, Sul, Jae Hoon, Ernst, Jason, Han, Buhm, Eskin, Eleazar
Format: Online
Language:English
Published: Oxford University Press 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908356/
Description
Summary:Motivation: Expression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method to determine whether a gene is an eGene requires association testing at all nearby variants and the permutation test to correct for multiple testing. The standard method however does not consider genomic annotation of the variants. In practice, variants near gene transcription start sites (TSSs) or certain histone modifications are likely to regulate gene expression. In this article, we introduce a novel eGene detection method that considers this empirical evidence and thereby increases the statistical power.