Zeggini Eleftheria, Rayner William, Morris Andrew P, Hattersley Andrew T, Walker Mark, Hitman Graham A, Deloukas Panos, Cardon Lon R, McCarthy Mark I
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Nat Genet. 2005 Dec;37(12):1320-2. doi: 10.1038/ng1670. Epub 2005 Oct 30.
A substantial investment has been made in the generation of large public resources designed to enable the identification of tag SNP sets, but data establishing the adequacy of the sample sizes used are limited. Using large-scale empirical and simulated data sets, we found that the sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor allele frequencies of <5%.
为了能够识别标签单核苷酸多态性（tag SNP）集，已经在生成大型公共资源方面投入了大量资金，但用于确定所使用样本量是否充足的数据有限。通过大规模的实证和模拟数据集，我们发现国际人类基因组单体型图计划（HapMap project）中使用的样本量足以捕获常见变异，但对于次要等位基因频率小于5%的变异，其性能会大幅下降。
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