Gibbs J Raphael, Singleton Andrew
Computational Biology Core, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland, United States of America.
PLoS Genet. 2006 Oct 6;2(10):e150. doi: 10.1371/journal.pgen.0020150.
The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify genetic association in disease. As has already been shown, this approach has the potential to localize common genetic variation underlying disease risk. The data provided from this technology also lends itself to several other lines of investigation; autozygosity mapping in consanguineous families and outbred populations, direct detection of structural variation, admixture analysis, and other population genetic approaches. In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing.
国际人类基因组单体型图计划以及能够在单次实验中对超过10万个单核苷酸多态性（SNP）进行分型的技术的出现，使得全基因组单核苷酸多态性（GW-SNP）检测成为一项切实可行的工作。这引发了关于GW-SNP分型在识别疾病遗传关联方面前景的大量争论。正如已经表明的那样，这种方法有潜力定位疾病风险背后的常见遗传变异。该技术提供的数据也适用于其他几条研究路线；近亲家庭和非近亲人群中的纯合性定位、结构变异的直接检测、混合分析以及其他群体遗传学方法。在这篇综述中，我们将讨论GW-SNP分型的潜在用途和实际应用，包括上述内容以及简单关联测试之外的应用。
