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Estimating the Ages of Selection Signals from Different Epochs in Human History

机译:估计人类历史上不同时代的选择信号的年龄

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摘要

Genetic variation harbors signatures of natural selection driven by selective pressures that are often unknown. Estimating the ages of selection signals may allow reconstructing the history of environmental changes that shaped human phenotypes and diseases. We have developed an approximate Bayesian computation (ABC) approach to estimate allele ages under a model of selection on new mutations and under demographic models appropriate for human populations. We have applied it to two resequencing data sets: An ultra-high depth data set froma relatively small sample of unrelated individuals and a lower depth data set in a larger sample with transmission information. In addition to evaluating the accuracy of our method based on simulations, for each SNP, we assessed the consistency between the posterior probabilities estimated by the ABC approach and the ancient DNA record, finding good agreement between the two types of data and methods. Applying this ABC approach to data for eight single nucleotide polymorphisms (SNPs), we were able to rule out an onset of selection prior to the dispersal out-of-Africa for three of them and more recent than the spread of agriculture for an additional three SNPs.
机译:遗传变异蕴藏着自然选择的特征,这些特征是由通常未知的选择压力驱动的。估计选择信号的年龄可能允许重建塑造人类表型和疾病的环境变化的历史。我们开发了一种近似贝叶斯计算 (ABC) 方法,用于在新突变选择模型和适合人类群体的人口统计模型下估计等位基因年龄。我们已将其应用于两个重测序数据集:来自相对较小的不相关个体样本的超高深度数据集,以及具有传输信息的较大样本中的较低深度数据集。除了基于模拟评估方法的准确性外,对于每个SNP,我们评估了ABC方法估计的后验概率与古代DNA记录之间的一致性,发现两类数据和方法之间有很好的一致性。将这种ABC方法应用于8个单核苷酸多态性(SNP)的数据,我们能够排除其中3个在非洲以外扩散之前开始选择,并且比另外3个SNP的农业传播更晚。

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