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Estimation of admixture proportions: a likelihood-based approach using Markov chain Monte Carlo.

机译:混合比例的估计:使用马尔可夫链蒙特卡罗的基于似然的方法。

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摘要

When populations are separated for long periods and then brought into contact for a brief episode in part of their range, this can result in genetic admixture. To analyze this type of event we considered a simple model under which two parental populations (P1 and P2) mix and create a hybrid population (H). After that event, the three populations evolve under pure drift without exchange during T generations. We developed a new method, which allows the simultaneous estimation of the time since the admixture event (scaled by the population size t(i) = T/N(i), where N(i) is the effective population size of population i) and the contribution of one of two parental populations (which we call p1). This method takes into account drift since the admixture event, variation caused by sampling, and uncertainty in the estimation of the ancestral allele frequencies. The method is tested on simulated data sets and then applied to a human data set. We find that (i) for single-locus data, point estimates are poor indicators of the real admixture proportions even when there are many alleles; (ii) biallelic loci provide little information about the admixture proportion and the time since admixture, even for very small amounts of drift, but can be powerful when many loci are used; (iii) the precision of the parameters' estimates increases with sample size n = 50 vs. n = 200 but this effect is larger for the t(i)'s than for p1; and (iv) the increase in precision provided by multiple loci is quite large, even when there is substantial drift (we found, for instance, that it is preferable to use five loci than one locus, even when drift is 100 times larger for the five loci). Our analysis of a previously studied human data set illustrates that the joint estimation of drift and p1 can provide additional insights into the data.
机译:当种群长期隔离,然后在其一部分范围内短暂接触时,可能导致遗传混合。为了分析这种类型的事件,我们考虑了一个简单的模型,在该模型下两个父母群体(P1和P2)混合并创建了一个杂种群体(H)。在那次事件之后,这三个种群在纯漂移下进化,在T代中没有交换。我们开发了一种新方法,该方法可以同时估计混合事件以来的时间(按人口规模t(i)= T / N(i)进行缩放,其中N(i)是人口i的有效人口规模)和两个父母人口之一的贡献(我们称为p1)。该方法考虑了自混合事件以来的漂移,由采样引起的变化以及祖先等位基因频率估计中的不确定性。该方法在模拟数据集上进行测试,然后应用于人类数据集。我们发现(i)对于单基因座数据,即使存在许多等位基因,点估计值也不能很好地指示实际掺混物的比例; (ii)双等位基因座几乎没有关于混合比例和混合后的时间的信息,即使漂移量很小,但在使用多个基因座时功能强大; (iii)参数估计的精度随着样本大小n = 50与n = 200的增加而增加,但对于t(i)而言,其影响要大于对p1的影响; (iv)即使有相当大的漂移,由多个基因座提供的精度提高也非常大(例如,我们发现,使用五个基因座比使用一个基因座更可取,即使当该基因座的漂移大100倍时也是如此)。五个位置)。我们对先前研究的人类数据集的分析表明,漂移和p1的联合估计可以提供对数据的更多见解。

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