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Maximum likelihood estimation of locus-specific mutation rates in Y-chromosome short tandem repeats

机译:Y染色体短串联重复序列中基因座特异性突变率的最大似然估计

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摘要

>Motivation: Y-chromosome short tandem repeats (Y-STRs) are widely used for population studies, forensic purposes and, potentially, the study of disease, therefore knowledge of their mutation rate is valuable. Here we show a novel method for estimation of site-specific Y-STR mutation rates from partial phylogenetic information, via the maximum likelihood framework.>Results: Given Y-STR data classified into haplogroups, we de-scribe the likelihood of observed data, and develop optimization strategies for deriving maximum likelihood estimates of mutation rates. We apply our method to Y-STR data from two recent papers. We show that our estimates are comparable, often more accurate than those obtained in familial studies, although our data sample is much smaller, and was not collected specifically for our study. Furthermore, we obtain mutation rate estimates for DYS388, DYS426, DYS457, three STRs for which there were no mutation rate measures until now.>Contact:
机译:>动机:Y染色体短串联重复序列(Y-STRs)被广泛用于人群研究,法医目的以及潜在的疾病研究,因此,了解其突变率非常有价值。在这里,我们展示了一种通过最大似然框架从部分系统发育信息估算位点特异性Y-STR突变率的新方法。>结果:鉴于将Y-STR数据分为单倍组,我们将描述观察数据的可能性,并开发优化策略以推导突变率的最大可能性估计。我们将我们的方法应用于最近两篇论文的Y-STR数据。我们表明,尽管我们的数据样本要小得多,并且不是专门为我们的研究收集的,但我们的估计值是可比的,通常比家族研究的结果更准确。此外,我们获得了DYS388,DYS426,DYS457,三个STR的突变率估算值,到目前为止,尚无这三个STR的突变率度量。>联系方式:

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