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Asymptotics of the allele frequency spectrum and the number of alleles

Published online by Cambridge University Press:  22 November 2024

Ross A. Maller*
Affiliation:
The Australian National University
Soudabeh Shemehsavar*
Affiliation:
Murdoch University and University of Tehran
*
*Postal address: Research School of Finance, Actuarial Studies and Statistics, Australian National University, Canberra, ACT, 0200, Australia. Email address: Ross.Maller@anu.edu.au
**Postal address: College of Science, Technology, Engineering and Mathematics, and Centre for Healthy Ageing, Health Future Institute, Murdoch University, and School of Mathematics, Statistics & Computer Sciences, University of Tehran. Email address: Soudabeh.Shemehsavar@murdoch.edu.au
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Abstract

We derive large-sample and other limiting distributions of components of the allele frequency spectrum vector, $\mathbf{M}_n$, joint with the number of alleles, $K_n$, from a sample of n genes. Models analysed include those constructed from gamma and $\alpha$-stable subordinators by Kingman (thus including the Ewens model), the two-parameter extension by Pitman and Yor, and a two-parameter version constructed by omitting large jumps from an $\alpha$-stable subordinator. In each case the limiting distribution of a finite number of components of $\mathbf{M}_n$ is derived, joint with $K_n$. New results include that in the Poisson–Dirichlet case, $\mathbf{M}_n$ and $K_n$ are asymptotically independent after centering and norming for $K_n$, and it is notable, especially for statistical applications, that in other cases the limiting distribution of a finite number of components of $\mathbf{M}_n$, after centering and an unusual $n^{\alpha/2}$ norming, conditional on that of $K_n$, is normal.

Information

Type
Original Article
Copyright
© The Author(s), 2024. Published by Cambridge University Press on behalf of Applied Probability Trust
Figure 0

Figure 1. Convergence diagram for $\mathrm{\mathbf{PD}} _\alpha^{(r)}$. Arrows denote convergence in distribution. Upper left to upper right is proved in Theorem 1; $(\widetilde{\mathbf{M}}(\alpha,r), K(\alpha,r))$ has the distribution on the right-hand side of (12). Upper left to lower left is proved in Theorem 5(i). For upper right to lower right, the convergence is proved in Theorem 6. Lower left to lower right is proved in Theorem 3, with $(\widetilde{\mathbf{M}}(\alpha),K(\alpha))$ denoting a random variable with the Normal-Mittag–Leffler mixture distribution on the right-hand side of (41). The diagram is schematic only: the random variables have to be normed and centred in certain ways before convergence takes place.

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