Stochastic simulation is a key tool in population genetics, since the models involved are often analytically intractable and simulation is usually the only way of obtaining ground-truth data to evaluate inferences. Because of this, a large number of specialized simulation programs have been developed, each filling a particular niche, but with largely overlapping functionality and a substantial duplication of effort. Here, we introduce msprime version 1.0, which efficiently implements ancestry and mutation simulations based on the succinct tree sequence data structure and the tskit library. We summarize msprime’s many features, and show that its performance is excellent, often many times faster and more memory efficient than specialized alternatives. These high-performance features have been thoroughly tested and validated, and built using a collaborative, open source development model, which reduces duplication of effort and promotes software quality via community engagement.
We study the effect of biological confounders on the model selection problem between Kingman coalescents with population growth, and Ξ-coalescents involving simultaneous multiple mergers. We use a low dimensional, computationally tractable summary statistic, dubbed the singleton-tail statistic, to carry out approximate likelihood ratio tests between these model classes. The singleton-tail statistic has been shown to distinguish between them with high power in the simple setting of neutrally evolving, panmictic populations without recombination. We extend this work by showing that cryptic recombination and selection do not diminish the power of the test, but that misspecifying population structure does. Furthermore, we demonstrate that the singleton-tail statistic can also solve the more challenging model selection problem between multiple mergers due to selective sweeps, and multiple mergers due to high fecundity with moderate power of up to 30%.
We introduce a low dimensional function of the site frequency spectrum that is tailor-made for distinguishing coalescent models with multiple mergers from Kingman coalescent models with population growth, and use this function to construct a hypothesis test between these model classes. The null and alternative sampling distributions of the statistic are intractable, but its low dimensionality renders them amenable to Monte Carlo estimation. We construct kernel density estimates of the sampling distributions based on simulated data, and show that the resulting hypothesis test dramatically improves on the statistical power of a current state-of-the-art method. A key reason for this improvement is the use of multi-locus data, in particular averaging observed site frequency spectra across unlinked loci to reduce sampling variance. We also demonstrate the robustness of our method to nuisance and tuning parameters. Finally we show that the same kernel density estimates can be used to conduct parameter estimation, and argue that our method is readily generalisable for applications in model selection, parameter inference and experimental design.
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