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Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies

Contributors

Panousis, Nikolaos; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil; Lappalainen, Tuuli Emilia

Published in

GenomeBiology.com, vol. 15, no. 9, 467

Publication date

2014

Abstract

RNA sequencing (RNA-seq) is the current gold-standard method to quantify gene expression for expression quantitative trait locus (eQTL) studies. However, a potential caveat in these studies is that RNA-seq reads carrying the non-reference allele of variant loci can have lower probability to map correctly to the reference genome, which could bias gene quantifications and cause false positive eQTL associations. In this study, we analyze the effect of this allelic mapping bias in eQTL discovery.

Keywords

  • Chromosome Mapping
  • Genetic Association Studies
  • Human Genome Project
  • Humans
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Sequence Alignment
  • Sequence Analysis, RNA

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

PANOUSIS, Nikolaos et al. Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies. In: GenomeBiology.com, 2014, vol. 15, n° 9, p. 467. doi: 10.1186/s13059-014-0467-2

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

1465-6906
557views
293downloads

Technical informations

Creation

23/11/2016 14:35:00

First validation

23/11/2016 14:35:00

Update

15/03/2023 01:09:20

Status update

15/03/2023 01:09:19

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