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We consider an infinitely-many neutral allelic model of population genetics where all alleles are divided into a finite number of classes, and each class is characterized by its own mutation rate. For this model the allelic composition of a…

Probability · Mathematics 2026-05-07 Eugene Strahov

Correlation of gene histories in the human genome determines the patterns of genetic variation (haplotype structure) and is crucial to understanding genetic factors in common diseases. We derive closed analytical expressions for the…

Genomics · Quantitative Biology 2009-11-10 A. Eriksson , B. Mehlig

We consider an empirical likelihood framework for inference for a statistical model based on an informative sampling design and population-level information. The population-level information is summarized in the form of estimating equations…

Methodology · Statistics 2022-09-07 Sanjay Chaudhuri , Mark S. Handcock , Michael S. Rendall

The often debated issue of `ratios of small numbers of events' is approached from a probabilistic perspective, making a clear distinction between the predictive problem (forecasting numbers of events we might count under well stated…

Methodology · Statistics 2020-12-09 Giulio D'Agostini

We consider inference about the history of a sample of DNA sequences, conditional upon the haplotype counts and the number of segregating sites observed at the present time. After deriving some theoretical results in the coalescent setting,…

Statistics Theory · Mathematics 2018-03-01 Robert C. Griffiths , Simon Tavaré

Phylodynamics seeks to estimate effective population size fluctuations from molecular sequences of individuals sampled from a population of interest. One way to accomplish this task formulates an observed sequence data likelihood exploiting…

Sensory processing is often characterized as implementing probabilistic inference: networks of neurons compute posterior beliefs over unobserved causes given the sensory inputs. How these beliefs are computed and represented by neural…

Neurons and Cognition · Quantitative Biology 2018-11-27 Sabyasachi Shivkumar , Richard D. Lange , Ankani Chattoraj , Ralf M. Haefner

Representations of population models in terms of countable systems of particles are constructed, in which each particle has a `type', typically recording both spatial position and genetic type, and a level. For finite intensity models, the…

Probability · Mathematics 2018-06-05 Alison M. Etheridge , Thomas G. Kurtz

Networks play a central role in modern data analysis, enabling us to reason about systems by studying the relationships between their parts. Most often in network analysis, the edges are given. However, in many systems it is difficult or…

Machine Learning · Statistics 2014-02-06 Scott W. Linderman , Ryan P. Adams

In population genetic studies, the allele frequency spectrum (AFS) efficiently summarizes genome-wide polymorphism data and shapes a variety of allele frequency-based summary statistics. While existing theory typically features equilibrium…

Populations and Evolution · Quantitative Biology 2015-12-16 Ingemar Kaj , Carina F. Mugal

We generalize a stochastic model of DNA replication to the case where replication-origin-initiation rates vary locally along the genome and with time. Using this generalized model, we address the inverse problem of inferring initiation…

Quantitative Methods · Quantitative Biology 2015-04-02 A. Baker , J. Bechhoefer

Recent work has proven the existence of extreme inbreeding in a European ancestry sample taken from the contemporary UK population \cite{nature_01}. This result brings our attention again to a math problem related to inbreeding family trees…

Populations and Evolution · Quantitative Biology 2021-09-08 C. Jarne , F A. Gómez Albarracín , M. Caruso

We consider two versions of stochastic population models with mutation and selection. The first approach relies on a multitype branching process; here, individuals reproduce and change type (i.e., mutate) independently of each other,…

Populations and Evolution · Quantitative Biology 2009-02-19 E. Baake , R. Bialowons

Population genetic studies have found evidence for dramatic population growth in recent human history. It is unclear how this recent population growth, combined with the effects of negative natural selection, has affected patterns of…

Populations and Evolution · Quantitative Biology 2014-02-11 Kirk E. Lohmueller

The recent explosion in available genetic data has led to significant advances in understanding the demographic histories of and relationships among human populations. It is still a challenge, however, to infer reliable parameter values for…

Populations and Evolution · Quantitative Biology 2013-04-09 Mark Lipson , Po-Ru Loh , Alex Levin , David Reich , Nick Patterson , Bonnie Berger

Population genetics lies at the heart of evolutionary theory. This topic forms part of many biological science curricula but is rarely taught to physics students. Since physicists are becoming increasingly interested in biological…

Populations and Evolution · Quantitative Biology 2024-12-11 Andrea Iglesias-Ramas , Samuele Pio Lipani , Rosalind J. Allen

This work was motivated by a twin study with the goal of assessing the genetic control of immune traits. We propose a mixture bivariate distribution to model twin data where the underlying order within a pair is unclear. Though estimation…

Methodology · Statistics 2025-07-21 Zonghui Hu , Pengfei Li , Dean Follmann , Jing Qin

This manuscript delves into the intersection of genomics and phenotypic prediction, focusing on the statistical innovation required to navigate the complexities introduced by noisy covariates and confounders. The primary emphasis is on the…

Methodology · Statistics 2024-11-15 Upama Paul Chowdhury , Ronit Bhattacharjee , Susmita Das , Abhik Ghosh

The usefulness of a `total-evidence' approach to human population genetics was assessed through a clustering analysis of combined genome-wide SNP datasets. The combination contained only 3146 SNPs. Detailed examination of the results…

Populations and Evolution · Quantitative Biology 2012-12-07 Blaise Li

Estimating an individual's counterfactual outcomes under interventions is a challenging task for traditional causal inference and supervised learning approaches when the outcome is high-dimensional (e.g. gene expressions, facial images) and…

Machine Learning · Computer Science 2025-03-19 Yulun Wu , Louie McConnell , Claudia Iriondo