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June 1, 2000Genetics34,558 citationsOpen Access

Inference of Population Structure Using Multilocus Genotype Data

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Jonathan K. Pritchard
Jonathan K. PritchardSIB Swiss Institute of Bioinformatics
MSMatthew StephensUniversity of ChicagoPDPeter DonnellyUniversité Paris-Sud

Key Points

  • To develop a model-based Bayesian clustering method that infers population structure and assigns individuals or admixed proportions to populations using unlinked multilocus genotype data.
  • Formulated a probabilistic clustering algorithm modeling K populations characterized by locus-specific allele frequencies without requiring assumptions about specific mutation models.
  • Implemented framework to probabilistically assign individuals to single populations or jointly across multiple ancestral populations to account for admixture.
  • Evaluated assignment accuracy on empirical multilocus genotype datasets, including an analysis of seven microsatellite loci from an endangered bird species.
  • Demonstrated accurate capability to infer underlying population structure, assign individuals, analyze hybrid zones, and identify migrants and admixed individuals.
  • Achieved highly accurate individual population assignments using a modest number of unlinked markers, such as seven microsatellite loci in endangered bird test data.

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.

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Cite This Study

Pritchard et al. (2000) studied this question.

synapsesocial.com/papers/69d71f2eef370a38abf50adfhttps://doi.org/10.1093/genetics/155.2.945
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