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Inference of Population Structure Using Multilocus Genotype Data

Genetics · 2000 · Vol. 155(2) · pp. 945–959
Jonathan K. PritchardMatthew StephensPeter Donnelly

Abstract

We describe a model-based clustering method for using multilocus genotype data to infer population structure and assign individuals to populations. We assume a model in which there are K populations (where K may be unknown), each of which is characterized by a set of allele frequencies at each locus. Individuals in the sample are assigned (probabilistically) to populations, or jointly to two or more populations if their genotypes indicate that they are admixed. Our model does not assume a particular mutation process, and it can be applied to most of the commonly used genetic markers, provided that they are not closely linked. Applications of our method include demonstrating the presence of population structure, assigning individuals to populations, studying hybrid zones, and identifying migrants and admixed individuals. We show that the method can produce highly accurate assignments using modest numbers of loci-e.g. , seven microsatellite loci in an example using genotype data from an endangered bird species. The software used for this article is available from http://www.stats.ox.ac.uk/ approximately pritch/home. html.

Genetic diversity and population structureGenetic and phenotypic traits in livestockWildlife Ecology and ConservationBiologyMicrosatelliteGenotypeLocus (genetics)GeneticsInferencePopulationPopulation geneticsCluster analysisAllele

MeSH terms

AlgorithmsGenetics, PopulationGenotypeHumansModels, GeneticCluster Analysis
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References
On Bayesian Analysis of Mixtures with an Unknown Number of Components (with discussion)
Journal of the Royal Statistical Society Series B (Statistical Methodology) · 1997 · 1,893 citations
Dealing With Label Switching in Mixture Models
Journal of the Royal Statistical Society Series B (Statistical Methodology) · 2000 · 1,073 citations
Estimating African American Admixture Proportions by Use of Population-Specific Alleles
The American Journal of Human Genetics · 1998 · 775 citations
Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
The American Journal of Human Genetics · 1999 · 1,209 citations
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