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The site frequency spectrum (SFS) is a widely used summary statistic of genomic data. Motivated by recent evidence for the role of neutral evolution in cancer, we investigate the SFS of neutral mutations in an exponentially growing…

Probability · Mathematics 2024-03-13 Einar Bjarki Gunnarsson , Kevin Leder , Xuanming Zhang

The site frequency spectrum (SFS) is a popular summary statistic of genomic data. While the SFS of a constant-sized population undergoing neutral mutations has been extensively studied in population genetics, the rapidly growing amount of…

Populations and Evolution · Quantitative Biology 2021-10-22 Einar Bjarki Gunnarsson , Kevin Leder , Jasmine Foo

This paper explores the Site Frequency Spectrum (SFS) in stationary branching populations. We derive estimates for the SFS associated with a sample from a continuous-state branching process conditioned to never go extinct, utilizing a…

Probability · Mathematics 2026-05-25 Romain Abraham , Jean-François Delmas , Patrick Hoscheit

We introduce and analyze a general model of a population evolving over a network of selectively neutral genotypes. We show that the population's limit distribution on the neutral network is solely determined by the network topology and…

adap-org · Physics 2009-10-31 Erik van Nimwegen , James P. Crutchfield , Martijn Huynen

In this paper we study the genealogical structure of a Galton-Watson process with neutral mutations, where the initial population is large and mutation rate is small \cite{B2}. Namely, we extend in two directions the results obtained in…

Probability · Mathematics 2015-08-11 Airam Blancas Benítez , Víctor Rivero

We study a general setting of neutral evolution in which the population is of finite, constant size and can have spatial structure. Mutation leads to different genetic types ("traits"), which can be discrete or continuous. Under minimal…

Populations and Evolution · Quantitative Biology 2018-11-02 Alex McAvoy , Ben Adlam , Benjamin Allen , Martin A. Nowak

Consider a supercritical birth and death process where the children acquire mutations. We study the mutation rates along the ancestral lineages in a sample of size $n$ from the population at time $T$. The mutation rate is time-inhomogenous…

Probability · Mathematics 2024-02-27 Yubo Shuai

A population genetics model based on a multitype branching process, or equivalently a Galton-Watson branching process for multiple alleles, is pre- sented. The diffusion limit forward Kolmogorov equation is derived for the case of neutral…

Populations and Evolution · Quantitative Biology 2018-02-21 Conrad J. Burden , Yi Wei

Stochastic models of sequential mutation acquisition are widely used to quantify cancer and bacterial evolution. Across manifold scenarios, recurrent research questions are: how many cells are there with $n$ alterations, and how long will…

Populations and Evolution · Quantitative Biology 2023-07-07 Michael D. Nicholson , David Cheek , Tibor Antal

Linear functions of the site frequency spectrum (SFS) play a major role for understanding and investigating genetic diversity. Estimators of the mutation rate (e.g. based on the total number of segregating sites or average of the pairwise…

Methodology · Statistics 2021-01-14 Asger Hobolth , Mogens Bladt , Lars Nørvang Andersen

The stationary sampling distribution of a neutral decoupled Moran or Wright-Fisher diffusion with neutral mutations is known to first order for a general rate matrix with small but otherwise unconstrained mutation rates. Using this…

Populations and Evolution · Quantitative Biology 2020-05-07 Claus Vogl , Lynette C. Mikula , Conrad J. Burden

The differences between DNA-sequences within a population are the basis to infer the ancestral relationship of the individuals. Within the classical infinitely many sites model, it is possible to estimate the mutation rate based on the site…

Populations and Evolution · Quantitative Biology 2014-07-10 Franz Baumdicker

In order to analyze data from cancer genome sequencing projects, we need to be able to distinguish causative, or "driver," mutations from "passenger" mutations that have no selective effect. Toward this end, we prove results concerning the…

Populations and Evolution · Quantitative Biology 2013-02-13 Rick Durrett

We consider a spatial (line) model for invasion of a population by a single mutant with a stochastically selectively neutral fitness landscape, independent from the fitness landscape for non-mutants. This model is similar to those…

Probability · Mathematics 2021-04-05 Suzan Farhang-Sardroodi , Natalia L. Komarova , Marcus Michelen , Robin Pemantle

We investigate the dependence of the site frequency spectrum (SFS) on the topological structure of genealogical trees. We show that basic population genetic statistics - for instance estimators of $\theta$ or neutrality tests such as…

Populations and Evolution · Quantitative Biology 2017-01-16 Luca Ferretti , Alice Ledda , Guillaume Achaz , Thomas Wiehe , Sebastian E. Ramos-Onsins

Conventional population genetics considers the evolution of a limited number of genotypes corresponding to phenotypes with different fitness. As model phenotypes, in particular RNA secondary structure, have become computationally tractable,…

Populations and Evolution · Quantitative Biology 2008-04-22 Gergely J. Szollosi , Imre Derenyi

Evolution on neutral networks of genotypes has been found in models to concentrate on genotypes with high mutational robustness, to a degree determined by the topology of the network. Here analysis is generalized beyond neutral networks to…

Populations and Evolution · Quantitative Biology 2015-09-01 Lee Altenberg

We study the response of a quantitative trait to exponential directional selection in a finite haploid population at the genetic and the phenotypic level. We assume an infinite sites model, in which the number of new mutations per…

Populations and Evolution · Quantitative Biology 2024-04-10 Hannah Götsch , Reinhard Bürger

The site frequency spectrum describes variation among a set of n DNA sequences. Its i'th entry (i=1,2,...,n-1) is the number of nucleotide sites at which the mutant allele is present in i copies. Under selective neutrality, random mating,…

Populations and Evolution · Quantitative Biology 2021-03-02 Alan R. Rogers , Stephen P. Wooding

We consider a single genetic locus with two alleles $A_1$ and $A_2$ in a large haploid population. The locus is subject to selection and two-way, or recurrent, mutation. Assuming the allele frequencies follow a Wright-Fisher diffusion and…

Probability · Mathematics 2024-04-29 Wai-Tong Louis Fan , John Wakeley
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