Literature DB >> 30641073

Inductive determination of allele frequency spectrum probabilities in structured populations.

Marcy K Uyenoyama1, Naoki Takebayashi2, Seiji Kumagai3.   

Abstract

We present a method for inductively determining exact allele frequency spectrum (AFS) probabilities for samples derived from a population comprising two demes under the infinite-allele model of mutation. This method builds on a labeled coalescent argument to extend the Ewens sampling formula (ESF) to structured populations. A key departure from the panmictic case is that the AFS conditioned on the number of alleles in the sample is no longer independent of the scaled mutation rate (θ). In particular, biallelic site frequency spectra, widely-used in explorations of genome-wide patterns of variation, depend on the mutation rate in structured populations. Variation in the rate of substitution across loci and through time may contribute to apparent distortions of site frequency spectra exhibited by samples derived from structured populations.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Allele frequency spectrum; Coalescence; Ewens sampling formula; Infinite-allele mutation; Population structure; Site frequency spectrum

Mesh:

Year:  2019        PMID: 30641073      PMCID: PMC6836295          DOI: 10.1016/j.tpb.2018.10.004

Source DB:  PubMed          Journal:  Theor Popul Biol        ISSN: 0040-5809            Impact factor:   1.570


  20 in total

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Journal:  Theor Popul Biol       Date:  1972-03       Impact factor: 1.570

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Journal:  Theor Popul Biol       Date:  1995-10       Impact factor: 1.570

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Authors:  W H Li; T Gojobori; M Nei
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8.  Site frequency spectra from genomic SNP surveys.

Authors:  Ganeshkumar Ganapathy; Marcy K Uyenoyama
Journal:  Theor Popul Biol       Date:  2009-04-14       Impact factor: 1.570

9.  Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

Authors:  Arbel Harpak; Anand Bhaskar; Jonathan K Pritchard
Journal:  PLoS Genet       Date:  2016-12-15       Impact factor: 5.917

10.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

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  1 in total

1.  Allele frequency spectra in structured populations: Novel-allele probabilities under the labelled coalescent.

Authors:  Marcy K Uyenoyama; Naoki Takebayashi; Seiji Kumagai
Journal:  Theor Popul Biol       Date:  2020-03-03       Impact factor: 1.570

  1 in total

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