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The genetic structure of human populations is extraordinarily complex and of fundamental importance to studies of anthropology, evolution, and medicine. As increasingly many individuals are of mixed origin, there is an unmet need for tools…

Over the last fifty years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, 'The…

Populations and Evolution · Quantitative Biology 2022-02-14 Shyamalika Gopalan , Samuel Patillo Smith , Katharine Korunes , Iman Hamid , Sohini Ramachandran , Amy Goldberg

The recent explosion in available genetic data has led to significant advances in understanding the demographic histories of and relationships among human populations. It is still a challenge, however, to infer reliable parameter values for…

Populations and Evolution · Quantitative Biology 2013-04-09 Mark Lipson , Po-Ru Loh , Alex Levin , David Reich , Nick Patterson , Bonnie Berger

We propose a Bayesian nonparametric model to infer population admixture, extending the Hierarchical Dirichlet Process to allow for correlation between loci due to Linkage Disequilibrium. Given multilocus genotype data from a sample of…

Applications · Statistics 2015-03-31 M. De Iorio , L. T. Elliott , S. Favaro , K. Adhikari , Y. W. Teh

In the Admixture Model, the probability that an individual carries a certain allele at a specific marker depends on the allele frequencies in $K$ ancestral populations and the proportion of the individual's genome originating from these…

Statistics Theory · Mathematics 2026-03-02 Carola Sophia Heinzel

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

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

Admixed populations are formed by the merging of two or more ancestral populations, and the ancestry of each locus in an admixed genome derives from either source. Consider a simple "pulse" admixture model, where populations A and B merged…

Populations and Evolution · Quantitative Biology 2015-09-22 Shai Carmi , James Xue , Itsik Pe'er

Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous…

Applications · Statistics 2011-11-24 Bin Zhu , Allison E. Ashley-Koch , David B. Dunson

Linkage disequilibrium (LD) is often summarized using the "LD curve," which relates the LD between pairs of sites to the distance that separates them along the chromosome. This paper shows how the LD curve responds to changes in population…

Populations and Evolution · Quantitative Biology 2014-06-10 Alan R. Rogers

In the Admixture Model, the probability of an individual having a certain number of alleles at a specific marker depends on the allele frequencies in $K$ ancestral populations and the fraction of the individual's genome originating from…

Applications · Statistics 2025-07-29 Carola Sophia Heinzel

Linkage disequilibrium score regression (LDSC) has emerged as an essential tool for genetic and genomic analyses of complex traits, utilizing high-dimensional data derived from genome-wide association studies (GWAS). LDSC computes the…

Methodology · Statistics 2025-04-16 Fei Xue , Bingxin Zhao

The expected level of linkage disequilibrium (LD) in a finite ideal population at equilibrium is of relevance for many applications in population and quantitative genetics. Several recursion formulae have been proposed during the last…

Populations and Evolution · Quantitative Biology 2013-04-19 Ulrike Ober , Alexander Malinowski , Martin Schlather , Henner Simianer

Recent improvements in high-throughput genotyping and sequencing technologies have afforded the collection of massive, genome-wide datasets of DNA information from hundreds of thousands of individuals. These datasets, in turn, provide…

Populations and Evolution · Quantitative Biology 2014-12-19 Pier Francesco Palamara

High-throughput pooled resequencing offers significant potential for whole genome population sequencing. However, its main drawback is the loss of haplotype information. In order to regain some of this information, we present LDx, a…

Genomics · Quantitative Biology 2015-06-11 Alison F. Feder , Dmitri A. Petrov , Alan O. Bergland

Admixture models are a ubiquitous approach to capture latent population structure in genetic samples. Despite the widespread application of admixture models, little thought has been devoted to the quality of the model fit or the accuracy of…

Methodology · Statistics 2015-11-12 David Mimno , David M Blei , Barbara E Engelhardt

Although there has been much interest in estimating divergence and admixture from genomic data, it has proven difficult to distinguish gene flow after divergence from alternative histories involving structure in the ancestral population.…

Populations and Evolution · Quantitative Biology 2013-08-01 Konrad Lohse , Laurent A. F. Frantz

In both criminal cases and civil cases there is an increasing demand for the analysis of DNA mixtures involving relationships. The goal might be, for example, to identify the contributors to a DNA mixture where the donors may be related, or…

Methodology · Statistics 2021-04-22 Peter J. Green , Julia Mortera

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…

Machine Learning · Computer Science 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…

Populations and Evolution · Quantitative Biology 2015-03-20 Eric Frichot , Sean Schoville , Guillaume Bouchard , Olivier François
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