Abstract

Phylodynamics is an area of population genetics that uses genetic sequence data to estimate past population dynamics. Modern state-of-the-art Bayesian nonparametric methods for recovering population size trajectories of unknown form use either change-point models or Gaussian process priors. Change-point models suffer from computational issues when the number of change-points is unknown and needs to be estimated. Gaussian process-based methods lack local adaptivity and cannot accurately recover trajectories that exhibit features such as abrupt changes in trend or varying levels of smoothness. We propose a novel, locally adaptive approach to Bayesian nonparametric phylodynamic inference that has the flexibility to accommodate a large class of functional behaviors. Local adaptivity results from modeling the log-transformed effective population size a priori as a horseshoe Markov random field, a recently proposed statistical model that blends together the best properties of the change-point and Gaussian process modeling paradigms. We use simulated data to assess model performance, and find that our proposed method results in reduced bias and increased precision when compared to contemporary methods. We also use our models to reconstruct past changes in genetic diversity of human hepatitis C virus in Egypt and to estimate population size changes of ancient and modern steppe bison. These analyses show that our new method captures features of the population size trajectories that were missed by the state-of-the-artmethods.

Highlights

  • Estimation of population sizes and population dynamics over time is an important task in ecology and epidemiology

  • We propose an adaptation of the horseshoe Markov random field (HSMRF) approach of Faulkner and Minin (2018) for use in phylodynamic inference with coalescent priors

  • We used simulated data to assess the performance of the HSMRF model relative to the Gaussian Markov random field (GMRF) model

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Summary

Introduction

Estimation of population sizes and population dynamics over time is an important task in ecology and epidemiology. Genetic sequences are a growing source of information that can be used to infer past population sizes from the signatures of genetic diversity. Phylodynamics is a discipline that uses genetic sequence data to estimate past population dynamics. Many phylodynamic models draw on coalescent theory (Kingman, 1982; Griffiths and Tavare, 1994), which provides a probabilistic framework that connects the branching times of a genealogical tree with the effective population size and other demographic variables, such as migration rates, of the population from which the genealogy was drawn. In our work we concentrate on estimation of effective population sizes over evolutionary time, which can be short for rapidly evolving virus populations and longer (but still estimable with preserved ancient molecular sequence samples) for more slowly-evolving organisms. Some examples of successful application of phylodynamics include describing seasonal trends of influenza virus spread around the world (Rambaut et al, 2008), quantifying dynamics of outbreaks like hepatitis C (Pybus et al, 2003) and Ebola viruses (Alizon et al, 2014), and assessing the effects of climate change on populations of large mammals during the ice ages using ancient DNA (Shapiro et al, 2004; Lorenzen et al, 2011)

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