Detecting epistasis in human complex traits

Wei, Wen-Hua, Hemani, Gibran and Haley, Chris S. (2014) Detecting epistasis in human complex traits. Nature Reviews Genetics, 15 11: 722-733. doi:10.1038/nrg3747

Author Wei, Wen-Hua
Hemani, Gibran
Haley, Chris S.
Title Detecting epistasis in human complex traits
Journal name Nature Reviews Genetics   Check publisher's open access policy
ISSN 1471-0056
Publication date 2014-11-25
Year available 2014
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1038/nrg3747
Open Access Status
Volume 15
Issue 11
Start page 722
End page 733
Total pages 12
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2015
Language eng
Formatted abstract
Genome-wide association studies (GWASs) have become the focus of the statistical analysis of complex traits in humans, successfully shedding light on several aspects of genetic architecture and biological aetiology. Single-nucleotide polymorphisms (SNPs) are usually modelled as having additive, cumulative and independent effects on the phenotype. Although evidently a useful approach, it is often argued that this is not a realistic biological model and that epistasis (that is, the statistical interaction between SNPs) should be included. The purpose of this Review is to summarize recent directions in methodology for detecting epistasis and to discuss evidence of the role of epistasis in human complex trait variation. We also discuss the relevance of epistasis in the context of GWASs and potential hazards in the interpretation of statistical interaction terms.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Queensland Brain Institute Publications
Official 2015 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 37 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 41 times in Scopus Article | Citations
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