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

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

doi:10.1186/s13059-014-0467-2

Advanced search

Browse by...

Deposit

Highlights

More informations

Title		Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies
Authors		Panousis, Nikolaos Gutierrez Arcelus, Maria Dermitzakis, Emmanouil Lappalainen, Tuuli Emilia
Published in		GenomeBiology.com. 2014, vol. 15, no. 9, 467
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
Identifiers		DOI: 10.1186/s13059-014-0467-2 PMID: 25239376
Full text		Article (Published version) (2 MB) - Free access
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group		Population Genomics and Genetics of Complex Traits (892)
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 https://archive-ouverte.unige.ch/unige:90264