Centre for Biological Diversity, School of Biology, University of St. Andrews, St, Andrews KY16 9TH, UK.
Department of Biomedical Sciences and Pathobiology, Vetmeduni Vienna, Veterinärplatz 1, A-1210 Wien, Austria; Vienna Graduate School of Population Genetics, Vetmeduni Vienna, Veterinärplatz 1, A-1210 Wien, Austria.
Theor Popul Biol. 2024 Jun;157:55-85. doi: 10.1016/j.tpb.2024.03.005. Epub 2024 Mar 27.
In this article, discrete and stochastic changes in (effective) population size are incorporated into the spectral representation of a biallelic diffusion process for drift and small mutation rates. A forward algorithm inspired by Hidden-Markov-Model (HMM) literature is used to compute exact sample allele frequency spectra for three demographic scenarios: single changes in (effective) population size, boom-bust dynamics, and stochastic fluctuations in (effective) population size. An approach for fully agnostic demographic inference from these sample allele spectra is explored, and sufficient statistics for stepwise changes in population size are found. Further, convergence behaviours of the polymorphic sample spectra for population size changes on different time scales are examined and discussed within the context of inference of the effective population size. Joint visual assessment of the sample spectra and the temporal coefficients of the spectral decomposition of the forward diffusion process is found to be important in determining departure from equilibrium. Stochastic changes in (effective) population size are shown to shape sample spectra particularly strongly.
在本文中,离散和随机的(有效)种群大小变化被纳入到双等位基因扩散过程的谱表示中,用于漂移和小突变率。受隐马尔可夫模型(HMM)文献启发的前向算法用于计算三种人口统计场景的精确样本等位基因频率谱:(有效)种群大小的单次变化、繁荣-萧条动态和(有效)种群大小的随机波动。探索了从这些样本等位基因谱中进行完全不可知的人口统计推断的方法,并找到了种群大小逐步变化的充分统计量。此外,还在有效种群大小推断的背景下,研究和讨论了不同时间尺度上种群大小变化的多态样本谱的收敛行为。发现联合评估样本谱和前向扩散过程的谱分解的时间系数对于确定偏离平衡状态非常重要。(有效)种群大小的随机变化对样本谱的影响特别大。