基因-基因相互作用分析
Analysis of Gene-Gene Interactions.
作者信息
Cole Brian S, Hall Molly A, Urbanowicz Ryan J, Gilbert-Diamond Diane, Moore Jason H
机构信息
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.
出版信息
Curr Protoc Hum Genet. 2017 Oct 18;95:1.14.1-1.14.10. doi: 10.1002/cphg.45.
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.
本单元的目标是介绍上位性，即基因-基因相互作用，它是复杂性状（包括疾病易感性）遗传结构的重要贡献因素。本单元首先对上位性概念进行历史概述，并介绍识别潜在基因-基因相互作用所固有的挑战。然后，回顾在数量性状和分类性状的遗传研究背景下发现上位性的统计和机器学习方法。本单元最后讨论了荟萃分析、重复研究以及其他当前活跃的研究主题。© 2017 约翰威立父子出版公司。
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