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Hum Mol Genet. 2002 Oct 1;11(20):2463-8.

Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans.

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University of Cambridge, Department of Medical Genetics, JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, CB2 2XY, UK.


Epistasis, the interaction between genes, is a topic of current interest in molecular and quantitative genetics. A large amount of research has been devoted to the detection and investigation of epistatic interactions. However, there has been much confusion in the literature over definitions and interpretations of epistasis. In this review, we provide a historical background to the study of epistatic interaction effects and point out the differences between a number of commonly used definitions of epistasis. A brief survey of some methods for detecting epistasis in humans is given. We note that the degree to which statistical tests of epistasis can elucidate underlying biological interactions may be more limited than previously assumed.

[Indexed for MEDLINE]

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