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    Science (New York, N.Y.). pii: 367/6484/eaay5012. doi: 10.1126/science.aay5012
    Insights into human genetic variation and population history from 929 diverse genomes.
    Bergström A1,  McCarthy SA2,  Hui R3,  Almarri MA4,  Ayub Q5,  Danecek P6,  Chen Y7,  Felkel S8,  Hallast P9,  Kamm J10,  Blanché H11,  Deleuze JF12,  Cann H13,  Mallick S14,  Reich D15,  Sandhu MS16,  Skoglund P17,  Scally A18,  Xue Y19,  Durbin R20,  Tyler-Smith C21
    Author information
    1Wellcome Sanger Institute, Hinxton CB10 1SA, UK. ab34@sanger.ac.uk cts@sanger.ac.uk.
    2Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    3Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.
    4Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    5Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    6Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    7Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    8Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    9Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    10Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    11Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, 75010 Paris, France.
    12Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, 75010 Paris, France.
    13Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, 75010 Paris, France.
    14Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
    15Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
    16Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    17The Francis Crick Institute, London NW1 1AT, UK.
    18Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.
    19Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    20Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
    21Wellcome Sanger Institute, Hinxton CB10 1SA, UK. ab34@sanger.ac.uk cts@sanger.ac.uk.
    Abstract

    Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.


    Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

    Publikations ID: 32193295
    Quelle: öffnen
     
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