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The Estimation of the Number and the Length Distribution of Gene Conversion Tracts From Population DNA Sequence Data

机译:从群体DNA序列数据估计基因转化途径的数目和长度分布

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DNA sequence variation studies report the transfer of small segments of DNA among different sequences caused by gene conversion events. Here, we provide an algorithm to detect gene conversion tracts and a statistical model to estimate the number and the length distribution of conversion tracts for population DNA sequence data. Two length distributions are defined in the model: (1) that of the observed tract lengths and (2) that of the true tract lengths. If the latter follows a geometric distribution, the relationship between both distributions depends on two basic parameters: ψ, which measures the probability of detecting a converted site, and φ the parameter of the geometric distribution, from which the average true tract length, 1 / (1 – φ), can be estimated. Expressions are provided for estimating φ by the method of the moments and that of the maximum likelihood. The robustness of the model is examined by computer simulation. The present methods have been applied to the published rp49 sequences of Drosophila subobscura. Maximum likelihood estimate of φ for this data set is 0.9918, which represents an average conversion tract length of 122 bp. Only a small percentage of extant conversion events is detected.
机译:DNA序列变异研究报告了由基因转换事件引起的小序列DNA在不同序列之间的转移。在这里,我们提供了一种检测基因转化道的算法和一个统计模型来估算群体DNA序列数据的转化道的数量和长度分布。在模型中定义了两个长度分布:(1)观察到的道长和(2)真实道长。如果后者遵循几何分布,则两个分布之间的关系取决于两个基本参数:ψ,用于测量检测到转化站点的可能性;以及φ,是几何分布的参数,根据该参数,平均真实管道长度为1 / (1 –φ),可以估算。提供了用于通过矩和最大似然法估计φ的表达式。通过计算机仿真检查模型的鲁棒性。本方法已应用于果蝇亚种的已发表的rp49序列。该数据集的φ的最大似然估计为0.9918,它表示平均转换长度为122 bp。仅检测到少量的现有转换事件。

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