Mutational pattern of a sample from a critical branching population

DOI10.1007/S00285-015-0964-2zbMATH Open1347.92049arXiv1407.7720OpenAlexW2226618533WikidataQ50737962 ScholiaQ50737962MaRDI QIDQ314512FDOQ314512

Authors: Cécile Delaporte, Guillaume Achaz, Amaury Lambert 

Publication date: 16 September 2016

Published in: Journal of Mathematical Biology (Search for Journal in Brave)

Abstract: We study a universal object for the genealogy of a sample in populations with mutations: the critical birth-death process with Poissonian mutations, conditioned on its population size at a fixed time horizon. We show how this process arises as the law of the genealogy of a sample in a large class of critical branching populations with mutations at birth, namely populations converging, in a large population asymptotic, towards the continuum random tree. We extend this model to populations with random foundation times, with (potentially improper) prior distributions g_i: xmapsto x^{-i}, iin�_+, including the so-called uniform (i=0) and log-uniform (i=1) priors. We first investigate the mutational patterns arising from these models, by studying the site frequency spectrum of a sample with fixed size, i.e. the number of mutations carried by k individuals in the sample. Explicit formulae for the expected frequency spectrum of a sample are provided, in the cases of a fixed foundation time, and of a uniform and log-uniform prior on the foundation time. Second, we establish the convergence in distribution, for large sample sizes, of the (suitably renormalized) tree spanned by the sample genealogy with prior g_i on the time of origin. We finally prove that the limiting genealogies with different priors can all be embedded in the same realization of a given Poisson point measure.

Full work available at URL: https://arxiv.org/abs/1407.7720

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zbMATH Keywords

samplingcoalescent point processinvariance principlesite frequency spectrumcritical birth-death processinfinite-site modelmutational patternPoisson point measure

Mathematics Subject Classification ID

Point processes (e.g., Poisson, Cox, Hawkes processes) (60G55) Genetics and epigenetics (92D10) Problems related to evolution (92D15) Central limit and other weak theorems (60F05) Applications of branching processes (60J85) Population dynamics (general) (92D25) Functional limit theorems; invariance principles (60F17) Random measures (60G57) Branching processes (Galton-Watson, birth-and-death, etc.) (60J80)

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Cited In (6)

• Approximation of the allelic frequency spectrum in general supercritical branching populations
• Some properties of the conditioned reconstructed process with Bernoulli sampling
• Site frequency spectrum of a rescued population under rare resistant mutations
• Mutations on a random binary tree with measured boundary
• The frequency spectrum of a mutation, and its age, in a general diffusion model
• The pattern of genetic hitchhiking under recurrent mutation

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