Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population.

Einar Bjarki Gunnarsson, Kevin Leder, Xuanming Zhang

Abstract read

In one paragraph

Article in Stochastic processes and their applications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

On the patterns of genetic intra-tumor heterogeneity before and after treatment.Genetics · 2025
Article

4 · The record

Corrections and comments

Update of
Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population.2024

5 · Who and what money

Authors and funding

3 authors.

Einar Bjarki GunnarssonDepartment of Industrial and Systems Engineering, University of Minnesota, Twin Cities, Minneapolis, MN, USA.

Kevin LederDepartment of Industrial and Systems Engineering, University of Minnesota, Twin Cities, Minneapolis, MN, USA.

Xuanming ZhangDepartment of Industrial and Systems Engineering, University of Minnesota, Twin Cities, Minneapolis, MN, USA.

Funding

A microengineered colon cancer-chip designed to investigate tumor-stromal interactions driving cancer progressionR01CA241137 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MUMENTHALER, SHANNON MICHELLE · 2021 to 2025

$2.3M

NCI NIH HHS R01 CA241137

6 · The paper itself

Abstract

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 population. Using branching process techniques, we establish (first-order) almost sure convergence results for the SFS of a Galton-Watson process, evaluated either at a fixed time or at the stochastic time at which the population first reaches a certain size. We finally use our results to construct consistent estimators for the extinction probability and the effective mutation rate of a birth-death process.

Indexed as

60F1560J8592B0592D25Branching processesConvergence of stochastic processesInfinite sites modelNeutral evolutionSite frequency spectrum

Identifiers

PMID40191782

DOI10.1016/j.spa.2025.104565

PMCPMC11970945

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.