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具有选择和可变种群大小的扩散过程的转移密度与样本频谱

Transition Densities and Sample Frequency Spectra of Diffusion Processes with Selection and Variable Population Size.

作者信息

Živković Daniel, Steinrücken Matthias, Song Yun S, Stephan Wolfgang

机构信息

Section of Evolutionary Biology, Department of Biology, Ludwig-Maximilian University Munich, 82152 Munich, Germany

Department of Statistics, University of California, Berkeley, California 94720 Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Massachusetts 01003.

出版信息

Genetics. 2015 Jun;200(2):601-17. doi: 10.1534/genetics.115.175265. Epub 2015 Apr 14.

DOI:10.1534/genetics.115.175265
PMID:25873633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4492383/
Abstract

Advances in empirical population genetics have made apparent the need for models that simultaneously account for selection and demography. To address this need, we here study the Wright-Fisher diffusion under selection and variable effective population size. In the case of genic selection and piecewise-constant effective population sizes, we obtain the transition density by extending a recently developed method for computing an accurate spectral representation for a constant population size. Utilizing this extension, we show how to compute the sample frequency spectrum in the presence of genic selection and an arbitrary number of instantaneous changes in the effective population size. We also develop an alternate, efficient algorithm for computing the sample frequency spectrum using a moment-based approach. We apply these methods to answer the following questions: If neutrality is incorrectly assumed when there is selection, what effects does it have on demographic parameter estimation? Can the impact of negative selection be observed in populations that undergo strong exponential growth?

摘要

实证群体遗传学的进展表明,需要能够同时考虑选择和种群统计学的模型。为满足这一需求,我们在此研究选择作用下且有效种群大小可变的赖特 - 费希尔扩散模型。在基因选择和分段恒定有效种群大小的情况下,我们通过扩展一种最近开发的用于计算恒定种群大小精确谱表示的方法来获得转移密度。利用这一扩展,我们展示了如何在存在基因选择和有效种群大小任意数量瞬时变化的情况下计算样本频率谱。我们还开发了一种基于矩的替代高效算法来计算样本频率谱。我们应用这些方法来回答以下问题:当存在选择时若错误地假定为中性,这对种群统计学参数估计有何影响?在经历强烈指数增长的种群中能否观察到负选择的影响?