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The multivariate Wright–Fisher process with mutation: Moment-based analysis and inference using a hierarchical Beta model

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  • Hobolth, Asger
  • Siren, Jukka

Abstract

We consider the diffusion approximation of the multivariate Wright–Fisher process with mutation. Analytically tractable formulas for the first-and second-order moments of the allele frequency distribution are derived, and the moments are subsequently used to better understand key population genetics parameters and modeling frameworks. In particular we investigate the behavior of the expected homozygosity (the probability that two randomly sampled genes are identical) in the transient and stationary phases, and how appropriate the Dirichlet distribution is for modeling the allele frequency distribution at different evolutionary time scales. We find that the Dirichlet distribution is adequate for the pure drift model (no mutations allowed), but the distribution is not sufficiently flexible for more general mutation models. We suggest a new hierarchical Beta distribution for the allele frequencies in the Wright–Fisher process with a mutation model on the nucleotide level that distinguishes between transitions and transversions.

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  • Hobolth, Asger & Siren, Jukka, 2016. "The multivariate Wright–Fisher process with mutation: Moment-based analysis and inference using a hierarchical Beta model," Theoretical Population Biology, Elsevier, vol. 108(C), pages 36-50.
    • Handle: RePEc:eee:thpobi:v:108:y:2016:i:c:p:36-50
    DOI: 10.1016/j.tpb.2015.11.001
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    1. George Nicholson & Albert V. Smith & Frosti Jónsson & Ómar Gústafsson & Kári Stefánsson & Peter Donnelly, 2002. "Assessing population differentiation and isolation from single‐nucleotide polymorphism data," Journal of the Royal Statistical Society Series B, Royal Statistical Society, vol. 64(4), pages 695-715, October.
    2. Hobolth Asger & Jensen Jens Ledet, 2005. "Statistical Inference in Evolutionary Models of DNA Sequences via the EM Algorithm," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 4(1), pages 1-22, August.
    3. Joseph K Pickrell & Jonathan K Pritchard, 2012. "Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data," PLOS Genetics, Public Library of Science, vol. 8(11), pages 1-17, November.
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    1. Ferretti, Luca & Klassmann, Alexander & Raineri, Emanuele & Ramos-Onsins, Sebastián E. & Wiehe, Thomas & Achaz, Guillaume, 2018. "The neutral frequency spectrum of linked sites," Theoretical Population Biology, Elsevier, vol. 123(C), pages 70-79.

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