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

Lookup NU author(s): Professor Heather Cordell

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Abstract

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.

Publication metadata

Author(s): Cordell HJ

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2002

Volume: 11

Issue: 20

Pages: 2463-2468

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/11.20.2463

DOI: 10.1093/hmg/11.20.2463

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