TY - JOUR
T1 - Genetics of human gene expression
AU - Stranger, Barbara Elaine
AU - Raj, Towfique
PY - 2013/12/1
Y1 - 2013/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84889581286&partnerID=8YFLogxK
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U2 - 10.1016/j.gde.2013.10.004
DO - 10.1016/j.gde.2013.10.004
M3 - Review article
C2 - 24238872
AN - SCOPUS:84889581286
VL - 23
SP - 627
EP - 634
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 6
ER -
