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Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

种群与进化 · 定量生物学 2014-08-19 Jeremy J. Berg , Graham Coop

- Genome-scan methods are used for screening genome-wide patterns of DNA polymorphism to detect signatures of positive selection. There are two main types of methods: (i) 'outlier' detection methods based on Fst that detect loci with high…

种群与进化 · 定量生物学 2015-02-04 Pierre de Villemereuil , Oscar E. Gaggiotti

Background: Several sources of noise obfuscate the identification of single nucleotide variation (SNV) in next generation sequencing data. For instance, errors may be introduced during library construction and sequencing steps. In addition,…

基因组学 · 定量生物学 2015-03-05 Steve Hoffmann , Peter F. Stadler , Korbinian Strimmer

The investigation of allele frequency trajectories in populations evolving under controlled environmental pressures has become a popular approach to study evolutionary processes on the molecular level. Statistical models based on…

机器学习 · 计算机科学 2025-07-29 Julia Siekiera , Christian Schlötterer , Stefan Kramer

Adaptation to local environments often occurs through natural selection acting on a large number of loci, each having a weak phenotypic effect. One way to detect these loci is to identify genetic polymorphisms that exhibit high correlation…

种群与进化 · 定量生物学 2015-03-20 Eric Frichot , Sean Schoville , Guillaume Bouchard , Olivier François

A central part of population genomics consists of finding genomic regions implicated in local adaptation. Population genomic analyses are based on genotyping numerous molecular markers and looking for outlier loci in terms of patterns of…

种群与进化 · 定量生物学 2014-07-30 N. Duforet-Frebourg , E. Bazin , M. G. B. Blum

Estimation of the allele frequency at genetic markers is a key ingredient in biological and biomedical research, such as studies of human genetic variation or of the genetic etiology of heritable traits. As genetic data becomes increasingly…

应用统计 · 统计学 2007-12-18 Marc Coram , Hua Tang

The standard paradigm for the analysis of genome-wide association studies involves carrying out association tests at both typed and imputed SNPs. These methods will not be optimal for detecting the signal of association at SNPs that are not…

Sex difference in allele frequency is an emerging topic that is critical to our understanding of ascertainment bias, as well as data quality particularly of the largely overlooked X chromosome. To detect sex difference in allele frequency…

应用统计 · 统计学 2022-12-26 Zhong Wang , Andrew D. Paterson , Lei Sun

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…

种群与进化 · 定量生物学 2010-05-10 Ryan N. Gutenkunst , Ryan D. Hernandez , Scott H. Williamson , Carlos D. Bustamante

Many experimental and field studies have shown that adaptation can occur very rapidly. Two qualitatively different modes of fast adaptation have been proposed: selective sweeps wherein large shifts in the allele frequencies occur at a few…

种群与进化 · 定量生物学 2018-10-19 Kavita Jain , Wolfgang Stephan

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…

基因组学 · 定量生物学 2013-03-19 Heng Li

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…

统计方法学 · 统计学 2022-05-18 Jan van Waaij , Zilong Li , Carsten Wiuf

The detection of molecular signatures of selection is one of the major concerns of modern population genetics. A widely used strategy in this context is to compare samples from several populations, and to look for genomic regions with…

种群与进化 · 定量生物学 2013-01-24 Marìa Inès Fariello , Simon Boitard , Hugo Naya , Magali SanCristobal , Bertrand Servin

Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level…

应用统计 · 统计学 2010-11-15 Xiaoquan Wen , Matthew Stephens

The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection. Such…

种群与进化 · 定量生物学 2016-01-21 Joshua G. Schraiber , Steven N. Evans , Montgomery Slatkin

Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

种群与进化 · 定量生物学 2013-08-13 Gilles Guillot

In forensic DNA calculations of relatedness of individuals and in DNA mixture analyses, two sources of uncertainty are present concerning the allele frequencies used for evaluating genotype probabilities when evaluating likelihoods. They…

应用统计 · 统计学 2015-10-07 Robert Cowell

In this paper we discuss how to evaluate the differences between fitted logistic regression models across sub-populations. Our motivating example is in studying computerized diagnosis for learning disabilities, where sub-populations based…

统计方法学 · 统计学 2023-03-24 Guy Ashiri-Prossner , Yuval Benjamini

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,…

概率论 · 数学 2016-03-03 John A. Kamm , Jonathan Terhorst , Yun S. Song
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