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一种群体重组率的合并估计器。

A coalescent estimator of the population recombination rate.

作者信息

Hey J, Wakeley J

机构信息

Department of Ecology, Evolution and Natural Resources, Nelson Laboratories, Rutgers University, Piscataway, New Jersey 08855-1059, USA.

出版信息

Genetics. 1997 Mar;145(3):833-46. doi: 10.1093/genetics/145.3.833.

Abstract

Population genetic models often use a population recombination parameter 4Nc, where N is the effective population size and c is the recombination rate per generation. In many ways 4Nc is comparable to 4Nu, the population mutation rate. Both combine genome level and population level processes, and together they describe the rate of production of genetic variation in a population. However, 4Nc is more difficult to estimate. For a population sample of DNA sequences, historical recombination can only be detected if polymorphisms exist, and even then most recombination events are not detectable. This paper describes an estimator of 4Nc, hereafter designated gamma (gamma), that was developed using a coalescent model for a sample of four DNA sequences with recombination. The reliability of gamma was assessed using multiple coalescent simulations. In general gamma has low to moderate bias, and the reliability of gamma is comparable, though less, than that for a widely used estimator of 4Nu. If there exists an independent estimate of the recombination rate (per generation, per base pair), gamma can be used to estimate the effective population size or the neutral mutation rate.

摘要

群体遗传模型通常使用群体重组参数4Nc,其中N是有效群体大小,c是每代的重组率。在许多方面,4Nc与群体突变率4Nu相当。两者都结合了基因组水平和群体水平的过程,并且它们共同描述了群体中遗传变异的产生速率。然而,4Nc更难估计。对于DNA序列的群体样本,只有存在多态性时才能检测到历史重组,即便如此,大多数重组事件也是不可检测的。本文描述了一种4Nc的估计方法,以下称为γ(gamma),它是使用具有重组的四个DNA序列样本的合并模型开发的。使用多次合并模拟评估了γ的可靠性。一般来说,γ具有低到中等的偏差,并且γ的可靠性与广泛使用的4Nu估计方法相当,尽管略低。如果存在重组率(每代,每碱基对)的独立估计值,则γ可用于估计有效群体大小或中性突变率。

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