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Comparisons of site- and haplotype-frequency methods for detecting positive selection

机译:位点和单倍型频率检测阳性选择方法的比较

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In this report, we compare the differences between various site- and haplotype-frequency tests in their power to detect positive selection by doing computer simulations. Our results are the following. 1) Although haplotype-frequency tests that are conditional on the number of haplotypes (K) were developed for nonrecombining haplotypes, these tests are insensitive to recombination. Such tests, including the Ewens-Watterson (EW) test, can therefore be applied to recombining haplotypes. 2) Tests conditional on the number of segregating sites (S) become overly conservative in the presence of recombination. 3) The EW test is usually the most powerful test during the sweep phase, especially when the local recombination rate is high. 4) The "extended haplotype homozygosity" test relies heavily on the prior knowledge of the target of selection. With that knowledge, it is the most powerful test, whereas in the absence of this prior information, the test has little power. We also study the sensitivities of the haplotype-frequency tests to background selection and various demographic forces. We find that these tests are sensitive to some forces other than positive selection. To alleviate the problem of low specificity, compound tests, such as the DH test (Zeng et al. 2006), may be a solution. In the companion paper (Zeng K, Shi S, Wu C-I, in preparation), we use the EW test to devise 2 compound tests, which are more powerful in detecting positive selection than DH, but are also relatively insensitive to demography.
机译:在本报告中,我们比较了各种位点频率测试和单倍型频率测试在通过计算机模拟检测阳性选择的能力上的差异。我们的结果如下。 1)尽管针对非重组单体型开发了以单体型(K)数量为条件的单体型频率测试,但这些测试对重组不敏感。因此,可以将此类测试(包括Ewens-Watterson(EW)测试)应用于重组单倍型。 2)在存在重组条件下,以分离位点(S)为条件的测试过于保守。 3)EW测试通常是扫描阶段中最强大的测试,尤其是当本地重组率很高时。 4)“扩展单倍型纯合性”测试在很大程度上依赖于选择目标的先验知识。有了这些知识,它是最强大的测试,而在没有此先验信息的情况下,该测试几乎没有能力。我们还研究了单倍频率测试对背景选择和各种人口统计学特征的敏感性。我们发现这些测试对除正选择之外的其他一些力敏感。为了缓解低特异性的问题,化合物测试(例如DH测试(Zeng等,2006))可能是一种解决方案。在随附的论文(Zeng K,Shi S,Wu C-I,准备中)中,我们使用EW测试设计了2种复合测试,它们在检测阳性选择方面比DH更有效,但对人口统计学相对不敏感。

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