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Efficiently Inferring the Demographic History of Many Populations With Allele Count Data

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  • Jack Kamm
  • Jonathan Terhorst
  • Richard Durbin
  • Yun S. Song

Abstract

The sample frequency spectrum (SFS), or histogram of allele counts, is an important summary statistic in evolutionary biology, and is often used to infer the history of population size changes, migrations, and other demographic events affecting a set of populations. The expected multipopulation SFS under a given demographic model can be efficiently computed when the populations in the model are related by a tree, scaling to hundreds of populations. Admixture, back-migration, and introgression are common natural processes that violate the assumption of a tree-like population history, however, and until now the expected SFS could be computed for only a handful of populations when the demographic history is not a tree. In this article, we present a new method for efficiently computing the expected SFS and linear functionals of it, for demographies described by general directed acyclic graphs. This method can scale to more populations than previously possible for complex demographic histories including admixture. We apply our method to an 8-population SFS to estimate the timing and strength of a proposed “basal Eurasian” admixture event in human history. We implement and release our method in a new open-source software package momi2.

Suggested Citation

  • Jack Kamm & Jonathan Terhorst & Richard Durbin & Yun S. Song, 2020. "Efficiently Inferring the Demographic History of Many Populations With Allele Count Data," Journal of the American Statistical Association, Taylor & Francis Journals, vol. 115(531), pages 1472-1487, July.
  • Handle: RePEc:taf:jnlasa:v:115:y:2020:i:531:p:1472-1487
    DOI: 10.1080/01621459.2019.1635482
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    Cited by:

    1. Romain Fournier & Zoi Tsangalidou & David Reich & Pier Francesco Palamara, 2023. "Haplotype-based inference of recent effective population size in modern and ancient DNA samples," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    2. Legried, Brandon & Terhorst, Jonathan, 2022. "Rates of convergence in the two-island and isolation-with-migration models," Theoretical Population Biology, Elsevier, vol. 147(C), pages 16-27.
    3. Leonardo Vallini & Carlo Zampieri & Mohamed Javad Shoaee & Eugenio Bortolini & Giulia Marciani & Serena Aneli & Telmo Pievani & Stefano Benazzi & Alberto Barausse & Massimo Mezzavilla & Michael D. Pet, 2024. "The Persian plateau served as hub for Homo sapiens after the main out of Africa dispersal," Nature Communications, Nature, vol. 15(1), pages 1-13, December.

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