Volume 95, Issue 1 p. 1.14.1-1.14.10
UNIT

Analysis of Gene-Gene Interactions

Brian S. Cole

Brian S. Cole

Department of Biostatistics and Epidemiology, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Molly A. Hall

Molly A. Hall

Department of Biostatistics and Epidemiology, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

The Center for Systems Genomics, The Pennsylvania State University, University Park, Pennsylvania

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Ryan J. Urbanowicz

Ryan J. Urbanowicz

Department of Biostatistics and Epidemiology, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Diane Gilbert-Diamond

Diane Gilbert-Diamond

Institute for Quantitative Biomedical Sciences at Dartmouth, Hanover, New Hampshire

Department of Epidemiology, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire

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Jason H. Moore

Jason H. Moore

Department of Biostatistics and Epidemiology, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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First published: 13 February 2018
Citations: 9

Abstract

The goal of this unit is to introduce epistasis, or gene-gene interactions, as a significant contributor to the genetic architecture of complex traits, including disease susceptibility. This unit begins with an historical overview of the concept of epistasis and the challenges inherent in the identification of potential gene-gene interactions. Then, it reviews statistical and machine learning methods for discovering epistasis in the context of genetic studies of quantitative and categorical traits. This unit concludes with a discussion of meta-analysis, replication, and other topics of active research. © 2017 by John Wiley & Sons, Inc.