Properties and unbiased estimation of F- and D-statistics in samples containing related and inbred individuals.
Properties and unbiased estimation of F- and D-statistics in samples containing related and inbred individuals.
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DOI：
10.1093/genetics/iyab090
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发表时间：
2022-01-04
期刊：
影响因子：
3.3
通讯作者：
DeGiorgio M
中科院分区：
文献类型：
--
作者：
Mughal MR;DeGiorgio M
Patterson F-和D-统计量是量化人口关系和检验人口统计学历史假设的常用指标。这些统计数据利用种群间的等位基因频率信息来推断种群历史的不同方面，如种群结构和基因渗入事件。包括相关或近亲繁殖的个体可能会使这些统计数据产生偏差，这可能经常导致对这些个体的过滤。在这里，我们得到的F-和D-统计量的统计特性，包括他们的偏见，由于包括相关或近亲繁殖的个人，他们的方差，和他们相应的均方误差。此外，对于那些有偏的统计量，我们开发了无偏估计量并评估了这些新数量的方差。新的无偏统计量与原始统计量的比较表明，我们新导出的统计量在广泛的总体参数空间中通常具有较低的误差。此外，我们应用这些无偏估计使用几个全球人口与相关的个人，以突出其应用经验数据集。最后，我们在开源软件包funbiased中实现了这些无偏估计，以便于科学界的应用。
The Patterson F- and D-statistics are commonly used measures for quantifying population relationships and for testing hypotheses about demographic history. These statistics make use of allele frequency information across populations to infer different aspects of population history, such as population structure and introgression events. Inclusion of related or inbred individuals can bias such statistics, which may often lead to the filtering of such individuals. Here, we derive statistical properties of the F- and D-statistics, including their biases due to the inclusion of related or inbred individuals, their variances, and their corresponding mean squared errors. Moreover, for those statistics that are biased, we develop unbiased estimators and evaluate the variances of these new quantities. Comparisons of the new unbiased statistics to the originals demonstrates that our newly derived statistics often have lower error across a wide population parameter space. Furthermore, we apply these unbiased estimators using several global human populations with the inclusion of related individuals to highlight their application on an empirical dataset. Finally, we implement these unbiased estimators in open-source software package funbiased for easy application by the scientific community.
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