Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom.
Annu Rev Genet. 2010;44:293-308. doi: 10.1146/annurev-genet-102209-163421.
There has been increasing interest in rare variants and their association with disease, and several rare variant-disease associations have already been detected. The usual association tests for common variants are underpowered for detecting variants of lower frequency, so alternative approaches are required. In addition to reviewing the association analysis methods for rare variants, we discuss the limitations of genome-wide association studies in identifying rare variants and the problems that arise in the imputation of rare variants.
人们对罕见变异及其与疾病的关联越来越感兴趣，已经发现了一些罕见变异与疾病的关联。常见变异的常用关联测试对于检测较低频率的变异来说功效不足，因此需要替代方法。除了回顾罕见变异的关联分析方法外，我们还讨论了全基因组关联研究在识别罕见变异方面的局限性，以及在罕见变异推断中出现的问题。
