A framework for the interpretation of de novo mutation in human disease
Identifieur interne : 002D48 ( Ncbi/Checkpoint ); précédent : 002D47; suivant : 002D49A framework for the interpretation of de novo mutation in human disease
Auteurs : Kaitlin E. Samocha ; Elise B. Robinson ; Stephan J. Sanders ; Christine Stevens ; Aniko Sabo ; Lauren M. Mcgrath ; Jack A. Kosmicki ; Karola Rehnström [Finlande, Royaume-Uni] ; Swapan Mallick ; Andrew Kirby ; Dennis P. Wall ; Daniel G. Macarthur ; Stacey B. Gabriel ; Mark Depristo ; Shaun M. Purcell ; Aarno Palotie [Finlande, Royaume-Uni] ; Eric Boerwinkle ; Joseph D. Buxbaum ; Edwin H. Cook [États-Unis] ; Richard A. Gibbs ; Gerard D. Schellenberg ; James S. Sutcliffe ; Bernie Devlin ; Kathryn Roeder [États-Unis] ; Benjamin M. Neale ; Mark J. DalySource :
- Nature genetics [ 1061-4036 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- genetics : Child Development Disorders, Pervasive.
- methods : Genetics, Medical.
- Exome, Female, Genetic Code, Genetic Predisposition to Disease, Humans, Male, Mutation.
Abstract
Spontaneously arising
Url:
DOI: 10.1038/ng.3050
PubMed: 25086666
PubMed Central: 4222185
Affiliations:
- Finlande, Royaume-Uni, États-Unis
- Illinois, Pennsylvanie, Uusimaa
- Chicago, Helsinki, Pittsburgh
- Université Carnegie-Mellon, Université d'Helsinki, Université de l'Illinois à Chicago
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PMC:4222185Le document en format XML
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</author>
<author><name sortKey="Stevens, Christine" sort="Stevens, Christine" uniqKey="Stevens C" first="Christine" last="Stevens">Christine Stevens</name>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A3">Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Sabo, Aniko" sort="Sabo, Aniko" uniqKey="Sabo A" first="Aniko" last="Sabo">Aniko Sabo</name>
<affiliation><nlm:aff id="A7">Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030</nlm:aff>
<wicri:noCountry code="subfield">77030</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mcgrath, Lauren M" sort="Mcgrath, Lauren M" uniqKey="Mcgrath L" first="Lauren M." last="Mcgrath">Lauren M. Mcgrath</name>
<affiliation><nlm:aff id="A8">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Kosmicki, Jack A" sort="Kosmicki, Jack A" uniqKey="Kosmicki J" first="Jack A." last="Kosmicki">Jack A. Kosmicki</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A9">Center for Biomedical Informatics, Harvard Medical School, Boston, MA, 02115</nlm:aff>
<wicri:noCountry code="subfield">02115</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A10">Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, 02115</nlm:aff>
<wicri:noCountry code="subfield">02115</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rehnstrom, Karola" sort="Rehnstrom, Karola" uniqKey="Rehnstrom K" first="Karola" last="Rehnström">Karola Rehnström</name>
<affiliation wicri:level="4"><nlm:aff id="A11">Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki</wicri:regionArea>
<orgName type="university">Université d'Helsinki</orgName>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A12">Wellcome Trust Sanger Institute, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mallick, Swapan" sort="Mallick, Swapan" uniqKey="Mallick S" first="Swapan" last="Mallick">Swapan Mallick</name>
<affiliation><nlm:aff id="A13">Department of Genetics, Harvard Medical School, Boston, MA, 02115</nlm:aff>
<wicri:noCountry code="subfield">02115</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Kirby, Andrew" sort="Kirby, Andrew" uniqKey="Kirby A" first="Andrew" last="Kirby">Andrew Kirby</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wall, Dennis P" sort="Wall, Dennis P" uniqKey="Wall D" first="Dennis P." last="Wall">Dennis P. Wall</name>
<affiliation><nlm:aff id="A9">Center for Biomedical Informatics, Harvard Medical School, Boston, MA, 02115</nlm:aff>
<wicri:noCountry code="subfield">02115</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A10">Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, 02115</nlm:aff>
<wicri:noCountry code="subfield">02115</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Gabriel, Stacey B" sort="Gabriel, Stacey B" uniqKey="Gabriel S" first="Stacey B." last="Gabriel">Stacey B. Gabriel</name>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Depristo, Mark" sort="Depristo, Mark" uniqKey="Depristo M" first="Mark" last="Depristo">Mark Depristo</name>
<affiliation><nlm:aff id="A14">Synapdx, Lexington, MA, 02421</nlm:aff>
<wicri:noCountry code="subfield">02421</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Purcell, Shaun M" sort="Purcell, Shaun M" uniqKey="Purcell S" first="Shaun M." last="Purcell">Shaun M. Purcell</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A8">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A15">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A16">Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A17">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name>
<affiliation><nlm:aff id="A8">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A11">Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki</wicri:regionArea>
<orgName type="university">Université d'Helsinki</orgName>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A12">Wellcome Trust Sanger Institute, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name>
<affiliation><nlm:aff id="A7">Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030</nlm:aff>
<wicri:noCountry code="subfield">77030</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A18">Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030</nlm:aff>
<wicri:noCountry code="subfield">77030</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name>
<affiliation><nlm:aff id="A15">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A16">Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A17">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A19">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A20">Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A21">Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Cook, Edwin H" sort="Cook, Edwin H" uniqKey="Cook E" first="Edwin H." last="Cook">Edwin H. Cook</name>
<affiliation wicri:level="4"><nlm:aff id="A22">Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, 60608</nlm:aff>
<orgName type="university">Université de l'Illinois à Chicago</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Chicago</settlement>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard A." last="Gibbs">Richard A. Gibbs</name>
<affiliation><nlm:aff id="A7">Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030</nlm:aff>
<wicri:noCountry code="subfield">77030</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<affiliation><nlm:aff id="A23">Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104</nlm:aff>
<wicri:noCountry code="subfield">19104</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Sutcliffe, James S" sort="Sutcliffe, James S" uniqKey="Sutcliffe J" first="James S." last="Sutcliffe">James S. Sutcliffe</name>
<affiliation><nlm:aff id="A24">Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN, 37232</nlm:aff>
<wicri:noCountry code="subfield">37232</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Devlin, Bernie" sort="Devlin, Bernie" uniqKey="Devlin B" first="Bernie" last="Devlin">Bernie Devlin</name>
<affiliation><nlm:aff id="A25">Department of Psychiatry, University of Pittsburgh Medical School, Pittsburgh, PA, 15213</nlm:aff>
<wicri:noCountry code="subfield">15213</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Roeder, Kathryn" sort="Roeder, Kathryn" uniqKey="Roeder K" first="Kathryn" last="Roeder">Kathryn Roeder</name>
<affiliation wicri:level="4"><nlm:aff id="A26">Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, 15232</nlm:aff>
<orgName type="university">Université Carnegie-Mellon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A27">Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, PA, 15232</nlm:aff>
<orgName type="university">Université Carnegie-Mellon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Neale, Benjamin M" sort="Neale, Benjamin M" uniqKey="Neale B" first="Benjamin M." last="Neale">Benjamin M. Neale</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A3">Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<affiliation><nlm:aff id="A1">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114</nlm:aff>
<wicri:noCountry code="subfield">02114</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A3">Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, 02142</nlm:aff>
<wicri:noCountry code="subfield">02142</wicri:noCountry>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child Development Disorders, Pervasive (genetics)</term>
<term>Exome</term>
<term>Female</term>
<term>Genetic Code</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetics, Medical (methods)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Code génétique</term>
<term>Exome</term>
<term>Femelle</term>
<term>Génétique médicale ()</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Prédisposition génétique à une maladie</term>
<term>Troubles généralisés du développement de l'enfant (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Child Development Disorders, Pervasive</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Troubles généralisés du développement de l'enfant</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetics, Medical</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Exome</term>
<term>Female</term>
<term>Genetic Code</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Code génétique</term>
<term>Exome</term>
<term>Femelle</term>
<term>Génétique médicale</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Prédisposition génétique à une maladie</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p id="P1">Spontaneously arising <italic>(‘de novo’)</italic>
mutations play an important role in medical genetics. For diseases with extensive locus heterogeneity – such as autism spectrum disorders (ASDs) – the signal from <italic>de novo</italic>
mutations (DNMs) is distributed across many genes, making it difficult to distinguish disease-relevant mutations from background variation. We provide a statistical framework for the analysis of DNM excesses per gene and gene set by calibrating a model of <italic>de novo</italic>
mutation. We applied this framework to DNMs collected from 1,078 ASD trios and – while affirming a significant role for loss-of-function (LoF) mutations – found no excess of <italic>de novo</italic>
LoF mutations in cases with IQ above 100, suggesting that the role of DNMs in ASD may reside in fundamental neurodevelopmental processes. We also used our model to identify ~1,000 genes that are significantly lacking functional coding variation in non-ASD samples and are enriched for <italic>de novo</italic>
LoF mutations identified in ASD cases.</p>
</div>
</front>
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</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Iossifov, I" uniqKey="Iossifov I">I Iossifov</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Neale, Bm" uniqKey="Neale B">BM Neale</name>
</author>
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<biblStruct><analytic><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name>
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<biblStruct><analytic><author><name sortKey="Sanders, Sj" uniqKey="Sanders S">SJ Sanders</name>
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<biblStruct><analytic><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name>
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</analytic>
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<biblStruct><analytic><author><name sortKey="Antonarakis, Se" uniqKey="Antonarakis S">SE Antonarakis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Petrovski, S" uniqKey="Petrovski S">S Petrovski</name>
</author>
<author><name sortKey="Wang, Q" uniqKey="Wang Q">Q Wang</name>
</author>
<author><name sortKey="Heinzen, El" uniqKey="Heinzen E">EL Heinzen</name>
</author>
<author><name sortKey="Allen, As" uniqKey="Allen A">AS Allen</name>
</author>
<author><name sortKey="Goldstein, Db" uniqKey="Goldstein D">DB Goldstein</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="De Ligt, J" uniqKey="De Ligt J">J de Ligt</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rauch, A" uniqKey="Rauch A">A Rauch</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Betancur, C" uniqKey="Betancur C">C Betancur</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Darnell, Jc" uniqKey="Darnell J">JC Darnell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sanders, Sj" uniqKey="Sanders S">SJ Sanders</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Xu, B" uniqKey="Xu B">B Xu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bustamante, Cd" uniqKey="Bustamante C">CD Bustamante</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mcdonald, Jh" uniqKey="Mcdonald J">JH McDonald</name>
</author>
<author><name sortKey="Kreitman, M" uniqKey="Kreitman M">M Kreitman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Epi, Kc" uniqKey="Epi K">KC Epi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Depristo, Ma" uniqKey="Depristo M">MA DePristo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
<author><name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mckenna, A" uniqKey="Mckenna A">A McKenna</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Koren, A" uniqKey="Koren A">A Koren</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kryukov, Gv" uniqKey="Kryukov G">GV Kryukov</name>
</author>
<author><name sortKey="Pennacchio, La" uniqKey="Pennacchio L">LA Pennacchio</name>
</author>
<author><name sortKey="Sunyaev, Sr" uniqKey="Sunyaev S">SR Sunyaev</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Campbell, Cd" uniqKey="Campbell C">CD Campbell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Conrad, Df" uniqKey="Conrad D">DF Conrad</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Finlande</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Illinois</li>
<li>Pennsylvanie</li>
<li>Uusimaa</li>
</region>
<settlement><li>Chicago</li>
<li>Helsinki</li>
<li>Pittsburgh</li>
</settlement>
<orgName><li>Université Carnegie-Mellon</li>
<li>Université d'Helsinki</li>
<li>Université de l'Illinois à Chicago</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<name sortKey="Depristo, Mark" sort="Depristo, Mark" uniqKey="Depristo M" first="Mark" last="Depristo">Mark Depristo</name>
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