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The sample frequency spectrum (SFS), which describes the distribution of mutant alleles in a sample of DNA sequences, is a widely used summary statistic in population genetics. The expected SFS has a strong dependence on the historical…

Populations and Evolution · Quantitative Biology 2017-12-19 Zvi Rosen , Anand Bhaskar , Sebastien Roch , Yun S. Song

The sample frequency spectrum (SFS) is a widely-used summary statistic of genomic variation in a sample of homologous DNA sequences. It provides a highly efficient dimensional reduction of large-scale population genomic data and its…

Populations and Evolution · Quantitative Biology 2014-12-02 Anand Bhaskar , Yun S. Song

A wide range of studies in population genetics have employed the sample frequency spectrum (SFS), a summary statistic which describes the distribution of mutant alleles at a polymorphic site in a sample of DNA sequences. In particular,…

Probability · Mathematics 2016-03-03 John A. Kamm , Jonathan Terhorst , Yun S. Song

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

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

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

The Central Limit Theorem provides a foundation for inferential statistics and hypothesis testing. It describes how standardized statistics behave under repeated sampling from large populations. However, if the size of the sample (n)…

Methodology · Statistics 2026-05-19 Mike Crowhurst

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

Demographic models built from genetic data play important roles in illuminating prehistorical events and serving as null models in genome scans for selection. We introduce an inference method based on the joint frequency spectrum of genetic…

Populations and Evolution · Quantitative Biology 2010-05-10 Ryan N. Gutenkunst , Ryan D. Hernandez , Scott H. Williamson , Carlos D. Bustamante

It is becoming routine to obtain datasets on DNA sequence variation across several thousands of chromosomes, providing unprecedented opportunity to infer the underlying biological and demographic forces. Such data make it vital to study…

Populations and Evolution · Quantitative Biology 2015-06-24 Paul A. Jenkins , Jonas W. Mueller , Yun S. Song

The Wald development of statistical decision theory addresses decision making with sample data. Wald's concept of a statistical decision function (SDF) embraces all mappings of the form [data -> decision]. An SDF need not perform…

Econometrics · Economics 2019-09-17 Charles F. Manski

Large-scale datasets are increasingly being used to inform decision making. While this effort aims to ground policy in real-world evidence, challenges have arisen as selection bias and other forms of distribution shifts often plague…

Methodology · Statistics 2023-11-07 Santiago Cortes-Gomez , Mateo Dulce , Carlos Patino , Bryan Wilder

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…

A data sketch algorithm scans a big data set, collecting a small amount of data -- the sketch, which can be used to statistically infer properties of the big data set. Some data sketch algorithms take a fixed-size random sample of a big…

Machine Learning · Computer Science 2022-08-16 Eric Bax , John Donald

Simplets, constituting elementary units within simplicial complexes (SCs), serve as foundational elements for the structural analysis of SCs. Previous efforts have focused on the exact count or approximation of simplet count rather than…

Computational Geometry · Computer Science 2024-02-27 Hamid Beigy , Mohammad Mahini , Salman Qadami , Morteza Saghafian

High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites…

Populations and Evolution · Quantitative Biology 2012-12-18 Katarzyna Bryc , Nick Patterson , David Reich

When a sample frequency table is published, disclosure risk arises when some individuals can be identified on the basis of their values in certain attributes in the table called key variables, and then their values in other attributes may…

Methodology · Statistics 2009-09-29 Yosef Rinott , Natalie Shlomo

Statistical divergences (SDs), which quantify the dissimilarity between probability distributions, are a basic constituent of statistical inference and machine learning. A modern method for estimating those divergences relies on…

Statistics Theory · Mathematics 2022-03-30 Sreejith Sreekumar , Ziv Goldfeld

Spatially resolved genetic data is increasingly used to reconstruct the migrational history of species. To assist such inference, we study, by means of simulations and analytical methods, the dynamics of neutral gene frequencies in a…

Populations and Evolution · Quantitative Biology 2008-01-15 Oskar Hallatschek , David R. Nelson

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
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