lunes, 15 de septiembre de 2014

Detecting epistasis in human complex traits : Nature Reviews Genetics : Nature Publishing Group

Detecting epistasis in human complex traits : Nature Reviews Genetics : Nature Publishing Group



Detecting epistasis in human complex traits

Nature Reviews Genetics
 
 
doi:10.1038/nrg3747
Published online
 

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.

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