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BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data

机译:Betascan2:标准化统计数据以利用替换数据检测平衡选择

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Long-term balancing selection results in a build-up of alleles at similar frequencies and a deficit of substitutions when compared with an outgroup at a locus. The previously published β(1) statistics detect balancing selection using only polymorphism data. We now propose the β(2) statistic which detects balancing selection using both polymorphism and substitution data. In addition, we derive the variance of all β statistics, allowing for their standardization and thereby reducing the influence of parameters which can confound other selection tests. The standardized β statistics outperform existing summary statistics in simulations, indicating β is a well-powered and widely applicable approach for detecting balancing selection. We apply the β(2) statistic to 1000 Genomes data and report two missense mutations with high β scores in the ACSBG2 gene. An implementation of all β statistics and their standardization are available in the BetaScan2 software package at https://github.com/ksiewert/BetaScan.
机译:长期平衡选择导致在与位于轨迹处的小组相比时的类似频率和替换的等位基因的积累。先前发布的β(1)统计使用多态性数据检测平衡选择。我们现在提出使用多态性和替代数据来检测平衡选择的β(2)统计。此外,我们获得了所有β统计的方差,允许其标准化,从而降低了可能会混淆其他选择测试的参数的影响。标准化的β统计数占据了仿真中现有的概述统计数据,表明β是检测平衡选择的良好动力和广泛适用的方法。我们将β(2)统计到1000个基因组数据应用,并在ACSBG2基因中报告具有高β分数的两个畸形突变。所有β统计数据及其标准化的实施都可以在Betascan2软件包中提供HTTPS://github.com/ksiewert/betascan。

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