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In an extant population, how much information do extant individuals provide on the pedigree of their ancestors? Recent work by Kim, Mossel, Ramnarayan and Turner (2020) studied this question under a number of simplifying assumptions,…

Populations and Evolution · Quantitative Biology 2022-11-29 Elchanan Mossel , David Vulakh

Mounting evidence suggests that natural populations can harbor extensive fitness diversity with numerous genomic loci under selection. It is also known that genealogical trees for populations under selection are quantifiably different from…

Populations and Evolution · Quantitative Biology 2013-01-04 Adel Dayarian , Boris I Shraiman

Most species are structured and influenced by processes that either increased or reduced gene flow between populations. However, most population genetic inference methods ignore population structure and reconstruct a history characterized…

Populations and Evolution · Quantitative Biology 2015-11-10 Olivier Mazet , Willy Rodríguez , Simona Grusea , Simon Boitard , Lounès Chikhi

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

Principal component analysis (PCA) is commonly used in genetics to infer and visualize population structure and admixture between populations. PCA is often interpreted in a way similar to inferred admixture proportions, where it is assumed…

Methodology · Statistics 2023-02-10 Jan van Waaij , Song Li , Genís Garcia-Erill , Anders Albrechtsen , Carsten Wiuf

Migrations have played an important role in shaping the genetic diversity of human populations. Understanding genomic data thus requires careful modeling of historical gene flow. Here we consider the effect of relatively recent population…

Populations and Evolution · Quantitative Biology 2012-04-26 Simon Gravel

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

There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic structure. Examples include populations which are geographically separated, case--control…

Quantitative Methods · Quantitative Biology 2015-05-20 M. Bridges , E. A. Heron , C. O'Dushlaine , R. Segurado , The International Schizophrenia Consortium , D. Morris , A. Corvin , M. Gill , C. Pinto

With the recent advances in DNA sequencing, it is now possible to have complete genomes of individuals sequenced and assembled. This rich and focused genotype information can be used to do different population-wide studies, now first time…

Data Structures and Algorithms · Computer Science 2011-09-08 Jouni Sirén , Niko Välimäki , Veli Mäkinen

Accurate identification of haplotypes in sequenced human genomes can provide invaluable information about population demography and fine-scale correlations along the genome, thus empowering both population genomic and medical association…

Genomics · Quantitative Biology 2012-11-12 Fouad Zakharia , Carlos Bustamante

Shannon entropy is widely used to measure the complexity of DNA sequences but suffers from saturation effects that limit its discriminative power for long uniform segments. We introduce a novel metric, the entropy rank ratio R, which…

Information Theory · Computer Science 2025-11-10 Emmanuel Pio Pastore , Giuseppe Passarino , Peppino Sapia , Francesco De Rango

The diversity of virus populations within single infected hosts presents a major difficulty for the natural immune response as well as for vaccine design and antiviral drug therapy. Recently developed pyrophosphate based sequencing…

Populations and Evolution · Quantitative Biology 2015-05-13 Nicholas Eriksson , Lior Pachter , Yumi Mitsuya , Soo-Yon Rhee , Chunlin Wang , Baback Gharizadeh , Mostafa Ronaghi , Robert W. Shafer , Niko Beerenwinkel

We review the problem of confounding in genetic association studies, which arises principally because of population structure and cryptic relatedness. Many treatments of the problem consider only a simple ``island'' model of population…

Methodology · Statistics 2010-10-25 William Astle , David J. Balding

Sample selection improves the efficiency and effectiveness of machine learning models by providing informative and representative samples. Typically, samples can be modeled as a sample graph, where nodes are samples and edges represent…

Machine Learning · Computer Science 2025-03-04 Tianchi Xie , Jiangning Zhu , Guozu Ma , Minzhi Lin , Wei Chen , Weikai Yang , Shixia Liu

The advent of plant phenomics, coupled with the wealth of genotypic data generated by next-generation sequencing technologies, provides exciting new resources for investigations into and improvement of complex traits. However, these new…

Genomics · Quantitative Biology 2019-04-30 Gota Morota , Diego Jarquin , Malachy T. Campbell , Hiroyoshi Iwata

It has been shown that differences in fecundity variance can influence the probability of invasion of a genotype in a population, i.e. a genotype with lower variance in offspring number can be favored in finite populations even if it has a…

Populations and Evolution · Quantitative Biology 2007-05-23 Max Shpak

This paper introduces the Eigenvalue-Based Randomness (EBR) test - a novel approach rooted in the Tracy-Widom law from random matrix theory - and applies it to the context of residual analysis in panel data models. Unlike traditional…

Methodology · Statistics 2026-04-07 Marcell T. Kurbucz , Betsabé Pérez Garrido , Antal Jakovác

Because of the recent advances of genome sequences, a large number of human genome sequences are available for the study of human genetics. Genome-wide association studies typically focus on associations between single-nucleotide…

Populations and Evolution · Quantitative Biology 2019-10-11 Kazuharu Misawa

We introduce a new algorithm called {\sc Rec-Gen} for reconstructing the genealogy or \textit{pedigree} of an extant population purely from its genetic data. We justify our approach by giving a mathematical proof of the effectiveness of…

Data Structures and Algorithms · Computer Science 2020-05-11 Younhun Kim , Elchanan Mossel , Govind Ramnarayan , Paxton Turner

An explosion of high-throughput DNA sequencing in the past decade has led to a surge of interest in population-scale inference with whole-genome data. Recent work in population genetics has centered on designing inference methods for…

Machine Learning · Computer Science 2018-11-07 Jeffrey Chan , Valerio Perrone , Jeffrey P. Spence , Paul A. Jenkins , Sara Mathieson , Yun S. Song
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