Iles M M
Medical Epidemiology and Biostatistics, Karolinska Institutet, PO Box 281, S-171 77 Stockholm, Sweden.
Ann Hum Genet. 2006 Mar;70(Pt 2):254-61. doi: 10.1111/j.1529-8817.2005.00212.x.
The use of tagging SNPs (tSNPs) as a cost-effective means of capturing genetic diversity is widespread. However, the quality of the tSNPs selected is dependent on the initial sample in which they are characterized. If the initial marker set is too sparse the tSNPs chosen will capture less information than a naïve analysis suggests. A simple method has been proposed that should provide a better estimate of the performance of tSNPs. It is shown here that this approach is both unbiased and accurate, even for small numbers of typed markers. The effect of unknown phase is also investigated and it is shown that, excepting very small samples, this has little effect on the accuracy of the method.
将标签单核苷酸多态性(tSNP)作为一种经济高效的捕捉遗传多样性的方法被广泛应用。然而,所选择的tSNP的质量取决于对其进行特征描述的初始样本。如果初始标记集过于稀疏,那么所选择的tSNP所捕获的信息将比简单分析所显示的要少。有人提出了一种简单的方法,该方法应该能更好地估计tSNP的性能。本文表明,即使对于少量分型标记,这种方法也是无偏且准确的。还研究了未知相位的影响,结果表明,除了非常小的样本外,这对该方法的准确性影响很小。