Genetics of human gene expression

Barbara Elaine Stranger*, Towfique Raj

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations


A steadily growing number of studies have identified and characterized expression quantitative trait loci (eQTLs) in human cell-lines, primary cells, and tissues. This class of variation has been shown to play a role in complex traits, including disease. Here, we discuss how eQTLs have the potential to accelerate discovery of disease genes and functional mechanisms underlying complex traits. We discuss how context-specificity of eQTLs is being characterized at an unprecedented scale and breadth, and how this both informs on the intricacy of human genome function, and has important ramifications for elucidating function of genetic variants of interest, particularly for those contributing to disease.

Original languageEnglish (US)
Pages (from-to)627-634
Number of pages8
JournalCurrent Opinion in Genetics and Development
Issue number6
StatePublished - Dec 2013

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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