Iles Mark M
Section of Epidemiology and Biostatistics, Leeds Institute for Molecular Medicine, University of Leeds, Leeds, UK.
Methods Mol Biol. 2011;713:89-103. doi: 10.1007/978-1-60327-416-6_7.
Genome-wide association (GWA) studies are best understood as an extension of candidate gene association studies, scaled up to cover hundreds of thousands of markers across the genome in samples usually of several thousand cases and controls. The GWA approach allows the detection of much smaller effect sizes than with previous linkage-based genome-wide studies. However, this sensitivity makes them vulnerable to false positive findings caused by subtle differences between cases and controls that may arise as a result of issues, such as genotyping errors, population stratification, and sample mix-ups as well as the more obvious issue of multiple testing. After some background and an introduction to GWA, studies are considered stage-by-stage with particular focus on quality control as this is by far the most time-consuming and complex issue related to GWA.
全基因组关联（GWA）研究最好被理解为候选基因关联研究的扩展，扩大规模以涵盖通常包含数千例病例和对照样本的全基因组中的数十万个标记。与以前基于连锁的全基因组研究相比，GWA方法能够检测到效应大小小得多的情况。然而，这种敏感性使它们容易受到由病例和对照之间的细微差异导致的假阳性结果的影响，这些差异可能是由诸如基因分型错误、群体分层、样本混淆等问题以及更明显的多重检验问题引起的。在介绍一些背景知识并引入GWA研究之后，将逐阶段考虑这些研究，特别关注质量控制，因为这是迄今为止与GWA相关的最耗时且最复杂的问题。
