Balding David J
Department of Epidemiology and Public Health, Imperial College, St Marys Campus, Norfolk Place, London W2 1PG, UK.
Nat Rev Genet. 2006 Oct;7(10):781-91. doi: 10.1038/nrg1916.
Although genetic association studies have been with us for many years, even for the simplest analyses there is little consensus on the most appropriate statistical procedures. Here I give an overview of statistical approaches to population association studies, including preliminary analyses (Hardy-Weinberg equilibrium testing, inference of phase and missing data, and SNP tagging), and single-SNP and multipoint tests for association. My goal is to outline the key methods with a brief discussion of problems (population structure and multiple testing), avenues for solutions and some ongoing developments.
尽管基因关联研究已经存在多年,但即使是最简单的分析,对于最合适的统计程序也几乎没有共识。在此,我概述了群体关联研究的统计方法,包括初步分析(哈迪-温伯格平衡检验、相位推断和缺失数据以及单核苷酸多态性标签),以及单核苷酸多态性和多点关联检验。我的目标是概述关键方法,并简要讨论问题(群体结构和多重检验)、解决途径以及一些正在进行的进展。