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Abstract

The number K of mutations identifiable in a sample of n sequences from a large population is one of the most important summary statistics in population genetics and is ubiquitous in the analysis of DNA sequence data. K can be expressed as the sum of n-1 independent geometric random variables. Consequently, its probability generating function was established long ago, yielding its well-known expectation and variance. However, the statistical properties of K is much less understood than those of the number of distinct alleles in a sample. This paper demonstrates that the central limit theorem holds for K, implying that K follows approximately a normal distribution when a large sample is drawn from a population evolving according to the Wright-Fisher model with a constant effective size, or according to the constant-in-state model, which allows population sizes to vary independently but bounded uniformly across different states of the coalescent process. Additionally, the skewness and kurtosis of K are derived, confirming that K has asymptotically the same skewness and kurtosis as a normal distribution. Furthermore, skewness converges at speed $1/\sqrt{\ln(n)}$ and while kurtosis at speed $1/\ln(n)$. Despite the overall convergence speed to normality is relatively slow, the distribution of K for a modest sample size is already not too far from normality, therefore the asymptotic normality may be sufficient for certain applications when the sample size is large enough.

Competing Interest Statement

The authors have declared no competing interest.

Details

1009240
Title
The central limit theorem for the number of mutations in the genealogy of a sample from a large population
Publication title
bioRxiv; Cold Spring Harbor
Publication year
2025
Publication date
Jan 26, 2025
Section
New Results
Publisher
Cold Spring Harbor Laboratory Press
Source
BioRxiv
Place of publication
Cold Spring Harbor
Country of publication
United States
University/institution
Cold Spring Harbor Laboratory Press
Publication subject
ISSN
2692-8205
Source type
Working Paper
Language of publication
English
Document type
Working Paper
ProQuest document ID
3159906389
Document URL
https://www.proquest.com/working-papers/central-limit-theorem-number-mutations-genealogy/docview/3159906389/se-2?accountid=208611
Copyright
© 2025. This article is published under http://creativecommons.org/licenses/by-nd/4.0/ (“the License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Last updated
2025-01-27
Database
ProQuest One Academic