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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) of DNA sequences from a collection of individuals is a summary statistic which is commonly used for parametric inference in population genetics. Despite the popularity of SFS-based inference methods,…

Populations and Evolution · Quantitative Biology 2015-06-24 Jonathan Terhorst , Yun S. Song

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

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

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 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

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

In this article, discrete and stochastic changes in (effective) population size are incorporated into the spectral representation of a biallelic diffusion process for drift and small mutation rates. A forward algorithm inspired by…

Populations and Evolution · Quantitative Biology 2024-03-11 Lynette Caitlin Mikula , Claus Vogl

General genealogical processes such as $\Lambda$- and $\Xi$-coalescents, which respectively model multiple and simultaneous mergers, have important applications in studying marine species, strong positive selection, recurrent selective…

Populations and Evolution · Quantitative Biology 2016-05-10 Jeffrey P. Spence , John A. Kamm , Yun S. Song

Many aspects of the historical relationships between populations in a species are reflected in genetic data. Inferring these relationships from genetic data, however, remains a challenging task. In this paper, we present a statistical model…

Populations and Evolution · Quantitative Biology 2012-11-20 Joseph K. Pickrell , Jonathan K. Pritchard

Modeling large dependent datasets in modern time series analysis is a crucial research area. One effective approach to handle such datasets is to transform the observations into density functions and apply statistical methods for further…

Methodology · Statistics 2025-07-23 Yinzhi Wang , Yingqiu Zhu , Ben-Chang Shia , Lei Qin

Comparing allele frequencies among populations that differ in environment has long been a tool for detecting loci involved in local adaptation. However, such analyses are complicated by an imperfect knowledge of population allele…

Populations and Evolution · Quantitative Biology 2012-09-17 Torsten Günther , Graham Coop

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

We propose two new statistics, V and S, to disentangle the population history of related populations from SNP frequency data. If the populations are related by a tree, we show by theoretical means as well as by simulation that the new…

Methodology · Statistics 2022-05-18 Jan van Waaij , Zilong Li , Carsten Wiuf

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

We develop a Synthetic Fusion Pyramid Network (SPF-Net) with a scale-aware loss function design for accurate crowd counting. Existing crowd-counting methods assume that the training annotation points were accurate and thus ignore the fact…

Computer Vision and Pattern Recognition · Computer Science 2023-01-04 Yi-Kuan Hsieh , Jun-Wei Hsieh , Yu-Chee Tseng , Ming-Ching Chang , Bor-Shiun Wang

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

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Well-spread samples are desirable in many disciplines because they improve estimation when target variables exhibit spatial structure. This paper introduces an integrated methodological framework for spreading samples over the population's…

Methodology · Statistics 2025-10-29 Bardia Panahbehagh , Mehdi Mohebbi , Amir Mohammad HosseiniNasab
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