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Detection of human adaptation during the past 2000 years

Identifieur interne : 003D04 ( Ncbi/Merge ); précédent : 003D03; suivant : 003D05

Detection of human adaptation during the past 2000 years

Auteurs : Yair Field [États-Unis] ; Evan A. Boyle [États-Unis] ; Natalie Telis [États-Unis] ; Ziyue Gao [États-Unis] ; Kyle J. Gaulton [États-Unis, Royaume-Uni] ; David Golan [États-Unis] ; Loic Yengo [France, Australie] ; Ghislain Rocheleau [France] ; Philippe Froguel [France, Royaume-Uni] ; Mark I. Mccarthy [Royaume-Uni] ; Jonathan K. Pritchard [États-Unis]

Source :

RBID : PMC:5182071

Descripteurs français

English descriptors

Abstract

Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.


Url:
DOI: 10.1126/science.aag0776
PubMed: 27738015
PubMed Central: 5182071

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PMC:5182071

Le document en format XML

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<term>Genome-Wide Association Study</term>
<term>Hair Color (genetics)</term>
<term>Haplotypes</term>
<term>Humans (genetics)</term>
<term>Lactase (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr">
<term>Adaptation physiologique (génétique)</term>
<term>Complexe majeur d'histocompatibilité (génétique)</term>
<term>Couleur des cheveux (génétique)</term>
<term>Couleur des yeux (génétique)</term>
<term>Fréquence d'allèle</term>
<term>Génome humain</term>
<term>Haplotypes</term>
<term>Humains (génétique)</term>
<term>Lactase (génétique)</term>
<term>Locus génétiques</term>
<term>Pedigree</term>
<term>Royaume-Uni</term>
<term>Sélection génétique</term>
<term>Étude d'association pangénomique</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Lactase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Adaptation, Physiological</term>
<term>Eye Color</term>
<term>Hair Color</term>
<term>Humans</term>
<term>Major Histocompatibility Complex</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Adaptation physiologique</term>
<term>Complexe majeur d'histocompatibilité</term>
<term>Couleur des cheveux</term>
<term>Couleur des yeux</term>
<term>Humains</term>
<term>Lactase</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Gene Frequency</term>
<term>Genetic Loci</term>
<term>Genome, Human</term>
<term>Genome-Wide Association Study</term>
<term>Haplotypes</term>
<term>Pedigree</term>
<term>Selection, Genetic</term>
<term>United Kingdom</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Fréquence d'allèle</term>
<term>Génome humain</term>
<term>Haplotypes</term>
<term>Locus génétiques</term>
<term>Pedigree</term>
<term>Royaume-Uni</term>
<term>Sélection génétique</term>
<term>Étude d'association pangénomique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p id="P1">Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.</p>
</div>
</front>
</TEI>
<double pmid="27738015">
<pmc>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Detection of human adaptation during the past 2000 years</title>
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<name sortKey="Field, Yair" sort="Field, Yair" uniqKey="Field Y" first="Yair" last="Field">Yair Field</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Boyle, Evan A" sort="Boyle, Evan A" uniqKey="Boyle E" first="Evan A" last="Boyle">Evan A. Boyle</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Telis, Natalie" sort="Telis, Natalie" uniqKey="Telis N" first="Natalie" last="Telis">Natalie Telis</name>
<affiliation wicri:level="2">
<nlm:aff id="A3">Program in Biomedical Informatics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Biomedical Informatics, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gao, Ziyue" sort="Gao, Ziyue" uniqKey="Gao Z" first="Ziyue" last="Gao">Ziyue Gao</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
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<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gaulton, Kyle J" sort="Gaulton, Kyle J" uniqKey="Gaulton K" first="Kyle J." last="Gaulton">Kyle J. Gaulton</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="4">
<nlm:aff id="A4">Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford</wicri:regionArea>
<placeName>
<settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author>
<name sortKey="Golan, David" sort="Golan, David" uniqKey="Golan D" first="David" last="Golan">David Golan</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Yengo, Loic" sort="Yengo, Loic" uniqKey="Yengo L" first="Loic" last="Yengo">Loic Yengo</name>
<affiliation wicri:level="3">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
<placeName>
<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A6">Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rocheleau, Ghislain" sort="Rocheleau, Ghislain" uniqKey="Rocheleau G" first="Ghislain" last="Rocheleau">Ghislain Rocheleau</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A7">Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London</wicri:regionArea>
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<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Mccarthy, Mark I" sort="Mccarthy, Mark I" uniqKey="Mccarthy M" first="Mark I." last="Mccarthy">Mark I. Mccarthy</name>
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<nlm:aff id="A4">Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford</wicri:regionArea>
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<settlement type="city">Oxford</settlement>
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<settlement type="city">Oxford</settlement>
</placeName>
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</author>
<author>
<name sortKey="Pritchard, Jonathan K" sort="Pritchard, Jonathan K" uniqKey="Pritchard J" first="Jonathan K." last="Pritchard">Jonathan K. Pritchard</name>
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<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Californie</region>
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<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
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<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A8">Department of Biology, Stanford University, Stanford, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biology, Stanford University, Stanford, CA</wicri:regionArea>
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<region type="state">Californie</region>
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<idno type="RBID">PMC:5182071</idno>
<idno type="doi">10.1126/science.aag0776</idno>
<date when="2016">2016</date>
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<analytic>
<title xml:lang="en" level="a" type="main">Detection of human adaptation during the past 2000 years</title>
<author>
<name sortKey="Field, Yair" sort="Field, Yair" uniqKey="Field Y" first="Yair" last="Field">Yair Field</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Boyle, Evan A" sort="Boyle, Evan A" uniqKey="Boyle E" first="Evan A" last="Boyle">Evan A. Boyle</name>
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<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Telis, Natalie" sort="Telis, Natalie" uniqKey="Telis N" first="Natalie" last="Telis">Natalie Telis</name>
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<nlm:aff id="A3">Program in Biomedical Informatics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Biomedical Informatics, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gao, Ziyue" sort="Gao, Ziyue" uniqKey="Gao Z" first="Ziyue" last="Gao">Ziyue Gao</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Californie</region>
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<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
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<wicri:regionArea>Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
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<author>
<name sortKey="Gaulton, Kyle J" sort="Gaulton, Kyle J" uniqKey="Gaulton K" first="Kyle J." last="Gaulton">Kyle J. Gaulton</name>
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<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
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<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="4">
<nlm:aff id="A4">Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford</wicri:regionArea>
<placeName>
<settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author>
<name sortKey="Golan, David" sort="Golan, David" uniqKey="Golan D" first="David" last="Golan">David Golan</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Yengo, Loic" sort="Yengo, Loic" uniqKey="Yengo L" first="Loic" last="Yengo">Loic Yengo</name>
<affiliation wicri:level="3">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
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<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A6">Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rocheleau, Ghislain" sort="Rocheleau, Ghislain" uniqKey="Rocheleau G" first="Ghislain" last="Rocheleau">Ghislain Rocheleau</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199–EGID, F-59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A7">Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London</wicri:regionArea>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Mccarthy, Mark I" sort="Mccarthy, Mark I" uniqKey="Mccarthy M" first="Mark I." last="Mccarthy">Mark I. Mccarthy</name>
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<nlm:aff id="A4">Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford</wicri:regionArea>
<placeName>
<settlement type="city">Oxford</settlement>
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<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author>
<name sortKey="Pritchard, Jonathan K" sort="Pritchard, Jonathan K" uniqKey="Pritchard J" first="Jonathan K." last="Pritchard">Jonathan K. Pritchard</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Department of Genetics, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A2">Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A8">Department of Biology, Stanford University, Stanford, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biology, Stanford University, Stanford, CA</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Science (New York, N.Y.)</title>
<idno type="ISSN">0036-8075</idno>
<idno type="eISSN">1095-9203</idno>
<imprint>
<date when="2016">2016</date>
</imprint>
</series>
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<p id="P1">Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.</p>
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<term>Genetic Loci</term>
<term>Genome, Human</term>
<term>Genome-Wide Association Study</term>
<term>Hair Color (genetics)</term>
<term>Haplotypes</term>
<term>Humans (genetics)</term>
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<term>Fréquence d'allèle</term>
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<term>Locus génétiques</term>
<term>Pedigree</term>
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<div type="abstract" xml:lang="en">Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.</div>
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