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The subpopulationtion shift, characterized by a disparity in subpopulation distributibetween theween the training and target datasets, can significantly degrade the performance of machine learning models. Current solutions to subpopulation…

This paper studies the haplotype assembly problem from an information theoretic perspective. A haplotype is a sequence of nucleotide bases on a chromosome, often conveniently represented by a binary string, that differ from the bases in the…

Information Theory · Computer Science 2014-05-13 Hongbo Si , Haris Vikalo , Sriram Vishwanath

We introduce a modified spatial $\Lambda$-Fleming-Viot process to model the ancestry of individuals in a population occupying a continuous spatial habitat divided into two areas by a sharp discontinuity of the dispersal rate and effective…

Probability · Mathematics 2023-06-14 Raphael Forien , Harald Ringbauer , Graham Coop

Identifying a patient's key problems over time is a common task for providers at the point care, yet a complex and time-consuming activity given current electric health records. To enable a problem-oriented summarizer to identify a…

Applications · Statistics 2020-03-26 Gal Levy-Fix , Jason Zucker , Konstantin Stojanovic , Noémie Elhadad

A phylogeny describes the evolutionary history of an evolving population. Evolutionary search algorithms can perfectly track the ancestry of candidate solutions, illuminating a population's trajectory through the search space. However,…

Neural and Evolutionary Computing · Computer Science 2024-02-05 Alexander Lalejini , Marcos Sanson , Jack Garbus , Matthew Andres Moreno , Emily Dolson

This work is concerned with the estimation of hard-to-reach population sizes using a single respondent-driven sampling (RDS) survey, a variant of chain-referral sampling that leverages social relationships to reach members of a hidden…

In genetic studies, haplotype data provide more refined information than data about separate genetic markers. However, large-scale studies that genotype hundreds to thousands of individuals may only provide results of pooled data, where…

Methodology · Statistics 2023-09-01 Yong See Foo , Jennifer A. Flegg

The widespread availability of large amounts of genomic data on the SARS-CoV-2 virus, as a result of the COVID-19 pandemic, has created an opportunity for researchers to analyze the disease at a level of detail unlike any virus before it.…

Machine Learning · Computer Science 2021-10-20 Zahra Tayebi , Sarwan Ali , Murray Patterson

Large whole-genome sequencing projects have provided access to much of the rare variation in human populations, which is highly informative about population structure and recent demography. Here, we show how the age of rare variants can be…

Populations and Evolution · Quantitative Biology 2014-06-09 Iain Mathieson , Gil McVean

Epidemiologic screening programs often make use of tests with small, but non-zero probabilities of misdiagnosis. In this article, we assume the target population is finite with a fixed number of true cases, and that we apply an imperfect…

Methodology · Statistics 2024-04-22 Lin Ge , Yuzi Zhang , Lance A. Waller , Robert H. Lyles

Recent outbreaks of infectious diseases have been monitored closely from an epidemiological and microbiological perspective. Extracting from this wealth of data the information that is relevant for the evolution of the pathogen and predict…

Populations and Evolution · Quantitative Biology 2024-10-10 Baptiste Filoche , Stefan Hohenegger

We present a methodology providing a one-directional link from within-host individual heterogeneity to population-level disease transmission dynamics. The methodology works in several steps. A within-host model is investigated numerically…

Populations and Evolution · Quantitative Biology 2026-05-19 Julien Arino , Morgan Craig , Clotilde Djuikem , Kang-Ling Liao , Stéphanie Portet

Phylodynamics focuses on the problem of reconstructing past population size dynamics from current genetic samples taken from the population of interest. This technique has been extensively used in many areas of biology, but is particularly…

Computation · Statistics 2015-07-23 Shiwei Lan , Julia A. Palacios , Michael Karcher , Vladimir N. Minin , Babak Shahbaba

Sampling techniques such as Respondent-Driven Sampling (RDS) are widely used in epidemiology to sample "hidden" populations, such that properties of the network can be deduced from the sample. We consider how similar techniques can be…

Social and Information Networks · Computer Science 2013-04-25 Bowen Yan , Steve Gregory

This paper introduces smoothed pseudo-population bootstrap methods for the purposes of variance estimation and the construction of confidence intervals for finite population quantiles. In an i.i.d. context, it has been shown that resampling…

Methodology · Statistics 2025-09-30 Vanessa McNealis , Christian Léger

Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have…

Machine Learning · Computer Science 2007-10-29 Matti Kääriäinen , Niels Landwehr , Sampsa Lappalainen , Taneli Mielikäinen

Longitudinal cohorts to determine the incidence of HIV infection are logistically challenging, so researchers have sought alternative strategies. Recency test methods use biomarker profiles of HIV-infected subjects in a cross-sectional…

Methodology · Statistics 2022-01-13 Fei Gao , Marlena S. Bannick

Viroids are small circular single-stranded infectious RNAs that are characterized by a relatively high mutation level. Knowledge of their sequence heterogeneity remains largely elusive, and, as yet, no strategy attempting to address this…

Populations and Evolution · Quantitative Biology 2014-02-04 Jean-Pierre Sehi Glouzon , François Bolduc , Rafael Najmanovich , Shengrui Wang , Jean-Pierre Perreault

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

Sequencing by synthesis is used in many next-generation DNA sequencing technologies. Some of the technologies, especially those exploring the principle of single-molecule sequencing, allow incomplete nucleotide incorporation in each cycle.…

Genomics · Quantitative Biology 2024-05-28 Yong Kong
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