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The Caribbean basin is home to some of the most complex interactions in recent history among previously diverged human populations. Here, by making use of genome-wide SNP array data, we characterize ancestral components of Caribbean…

In genetically admixed populations, admixed individuals possess ancestry from multiple source groups. Studies of human genetic admixture frequently estimate ancestry components corresponding to fractions of individual genomes that trace to…

Populations and Evolution · Quantitative Biology 2022-10-25 Jazlyn A. Mooney , Lily Agranat-Tamir , Jonathan K. Pritchard , Noah A. Rosenberg

Human populations have experienced dramatic growth since the Neolithic revolution. Recent studies that sequenced a very large number of individuals observed an extreme excess of rare variants, and provided clear evidence of recent rapid…

Populations and Evolution · Quantitative Biology 2015-06-17 Elodie Gazave , Li Ma , Diana Chang , Alex Coventry , Feng Gao , Donna Muzny , Eric Boerwinkle , Richard Gibbs , Charles F. Sing , Andrew G. Clark , Alon Keinan

The recent genealogical history of human populations is a complex mosaic formed by individual migration, large-scale population movements, and other demographic events. Population genomics datasets can provide a window into this recent…

Populations and Evolution · Quantitative Biology 2013-05-09 Peter Ralph , Graham Coop

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

The usefulness of a `total-evidence' approach to human population genetics was assessed through a clustering analysis of combined genome-wide SNP datasets. The combination contained only 3146 SNPs. Detailed examination of the results…

Populations and Evolution · Quantitative Biology 2012-12-07 Blaise Li

During long time, historians and genealogists have interpreted that the elite that emerged during the Spanish Conquest was almost exclusively European. We reconstructed a deep matrilineal genealogy which includes recent Costa Rican…

Populations and Evolution · Quantitative Biology 2016-05-23 Bernal Morera-Brenes , Mauricio Melendez-Obando

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…

Applications · Statistics 2022-12-26 Zhong Wang , Andrew D. Paterson , Lei Sun

Genomic data can be used to reconstruct population size over thousands of generations, using a new class of algorithms (SMC methods). These analyses often show a recent decline in $N_e$ (effective size), which at face value implies a…

Populations and Evolution · Quantitative Biology 2025-04-15 Janeesh K. Bansal , Richard A. Nichols

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

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

All non-human great apes are endangered in the wild, and it is therefore important to gain an understanding of their demography and genetic diversity. To date, however, genetic studies within these species have largely been confined to…

Populations and Evolution · Quantitative Biology 2015-06-12 Aylwyn Scally , Bryndis Yngvadottir , Yali Xue , Qasim Ayub , Richard Durbin , Chris Tyler-Smith

Following genetic ancestry in eukaryote populations poses several open problems due to sexual reproduction and recombination. The history of extant genetic material is usually modeled backwards in time, but tracking chromosomes at a large…

Populations and Evolution · Quantitative Biology 2025-06-23 Juliette Luiselli , Manuel Lafond

Generative models derived from large protein sequence alignments define complex fitness landscapes, but their utility for accurately modeling non-equilibrium evolutionary dynamics remains unclear. In this work, we perform a rigorous…

Populations and Evolution · Quantitative Biology 2026-02-10 Leonardo Di Bari , Thierry Mora , Andrea Pagnani , Aleksandra M. Walczak , Francesco Zamponi , Saverio Rossi

We present a two-layer hidden Markov model to detect structure of haplotypes for unrelated individuals. This allows modeling two scales of linkage disequilibrium (one within a group of haplotypes and one between groups), thereby taking…

Quantitative Methods · Quantitative Biology 2013-04-09 Yongtao Guan

Traditionally the Costa Rican historians and genealogists have interpreted that the Spanish ruling elite emerged after the conquest was exclusively of European origin. On the other side, recent technological advances in Genetics give us the…

Populations and Evolution · Quantitative Biology 2016-05-23 Bernal Morera-Brenes , Ramon Villegas-Palma , Mauricio Melendez-Obando

Effective population size characterizes the genetic variability in a population and is a parameter of paramount importance in population genetics. Kingman's coalescent process enables inference of past population dynamics directly from…

Methodology · Statistics 2016-01-20 Mandev S. Gill , Philippe Lemey , Shannon N. Bennett , Roman Biek , Marc A. Suchard

Studying how diverse human populations are related is of historical and anthropological interest, in addition to providing a realistic null model for testing for signatures of natural selection or disease associations. Furthermore,…

Populations and Evolution · Quantitative Biology 2018-07-10 Jeffrey P. Spence , Matthias Steinrücken , Jonathan Terhorst , Yun S. Song

The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and…

Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced…

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