Hayes Ben
Biosciences Research Division, Department of Primary Industries, Bundoora, VIC, Australia.
Methods Mol Biol. 2013;1019:149-69. doi: 10.1007/978-1-62703-447-0_6.
This chapter provides an overview of statistical methods for genome-wide association studies (GWAS) in animals, plants, and humans. The simplest form of GWAS, a marker-by-marker analysis, is illustrated with a simple example. The problem of selecting a significance threshold that accounts for the large amount of multiple testing that occurs in GWAS is discussed. Population structure causes false positive associations in GWAS if not accounted for, and methods to deal with this are presented. Methodology for more complex models for GWAS, including haplotype-based approaches, accounting for identical by descent versus identical by state, and fitting all markers simultaneously are described and illustrated with examples.
本章概述了动物、植物和人类全基因组关联研究(GWAS)的统计方法。通过一个简单示例说明了GWAS最简单的形式,即逐个标记分析。讨论了选择一个能考虑到GWAS中大量多重检验的显著性阈值的问题。如果不加以考虑,群体结构会在GWAS中导致假阳性关联,并介绍了处理该问题的方法。描述了GWAS更复杂模型的方法,包括基于单倍型的方法、区分同源相同与状态相同,以及同时拟合所有标记,并举例说明。