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

Open access
Cordell, H. J.·2002·Human Molecular Genetics

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.

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Metadata

Authors
Cordell, H. J.
Venue
Human Molecular Genetics
Published
2002-10-01
Volume
11
Issue
20
Pages
2463-2468
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2125858955
Cited by
1,084
References
7
FWCI
13.01
Type
journal article
Language
en
Open access
green

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Cordell, H. J. (2002). Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.20.2463

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.