Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
Identifieur interne : 002521 ( Istex/Curation ); précédent : 002520; suivant : 002522Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
Auteurs : William S. Oetting [États-Unis] ; Peter N. Robinson [Allemagne] ; Marc S. Greenblatt ; Richard G. Cotton [Australie] ; Tim Beck [Royaume-Uni] ; John C. Carey ; Sandra C. Doelken [Allemagne] ; Marta Girdea [Canada] ; Tudor Groza [Australie] ; Carol M. Hamilton ; Ada Hamosh [États-Unis] ; Berit Kerner [États-Unis] ; Jacqueline A. L. Macarthur [Royaume-Uni] ; Donna R. Maglott ; Barend Mons [Pays-Bas] ; Heidi L. Rehm [États-Unis] ; Paul N. Schofield [Royaume-Uni] ; Beverly A. Searle [Royaume-Uni] ; Damian Smedley [Royaume-Uni] ; Cynthia L. Smith ; Inge Thomsen Bernstein [Danemark] ; Andreas Zankl [Australie] ; Eric Y. Zhao [Canada]Source :
- [ 1059-7794 ]
Abstract
A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was “Getting Ready for the Human Phenome Project.” Understanding the genetic contribution to both rare single‐gene “Mendelian” disorders and more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort toward this important goal.
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DOI: 10.1002/humu.22293
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Marc S. Greenblatt<affiliation><mods:affiliation>Department of Medicine and Vermont Cancer Center, University of Vermont, Vermont, Burlington</mods:affiliation><wicri:noCountry code="subField">Burlington</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pediatrics, University of Utah School of Medicine, Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation><affiliation><mods:affiliation>Research Computing Division, RTI International, Research Triangle Park, North Carolina, Durham</mods:affiliation><wicri:noCountry code="subField">Durham</wicri:noCountry></affiliation><affiliation><mods:affiliation>National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Maryland, Bethesda</mods:affiliation><wicri:noCountry code="subField">Bethesda</wicri:noCountry></affiliation><affiliation><mods:affiliation>The Jackson Laboratory, Maine, Bar Harbor</mods:affiliation><wicri:noCountry code="subField">Harbor</wicri:noCountry></affiliation>Le document en format XML
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Robinson</name><affiliation wicri:level="1"><mods:affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S." last="Greenblatt">Marc S. Greenblatt</name><affiliation><mods:affiliation>Department of Medicine and Vermont Cancer Center, University of Vermont, Vermont, Burlington</mods:affiliation><wicri:noCountry code="subField">Burlington</wicri:noCountry></affiliation></author><author><name sortKey="Cotton, Richard G" sort="Cotton, Richard G" uniqKey="Cotton R" first="Richard G." last="Cotton">Richard G. Cotton</name><affiliation wicri:level="1"><mods:affiliation>The Human Variome Project Coordinating Office, University of Melbourne, Melbourne, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Human Variome Project Coordinating Office, University of Melbourne, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Beck, Tim" sort="Beck, Tim" uniqKey="Beck T" first="Tim" last="Beck">Tim Beck</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics, University of Leicester, Leicester, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Genetics, University of Leicester, Leicester</wicri:regionArea></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><mods:affiliation>Department of Pediatrics, University of Utah School of Medicine, Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation></author><author><name sortKey="Doelken, Sandra C" sort="Doelken, Sandra C" uniqKey="Doelken S" first="Sandra C." last="Doelken">Sandra C. 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Hamilton</name><affiliation><mods:affiliation>Research Computing Division, RTI International, Research Triangle Park, North Carolina, Durham</mods:affiliation><wicri:noCountry code="subField">Durham</wicri:noCountry></affiliation></author><author><name sortKey="Hamosh, Ada" sort="Hamosh, Ada" uniqKey="Hamosh A" first="Ada" last="Hamosh">Ada Hamosh</name><affiliation wicri:level="3"><mods:affiliation>McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Maryland, Baltimore</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName><wicri:orgArea>McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Maryland</wicri:orgArea></affiliation></author><author><name sortKey="Kerner, Berit" sort="Kerner, Berit" uniqKey="Kerner B" first="Berit" last="Kerner">Berit Kerner</name><affiliation wicri:level="3"><mods:affiliation>Semel Institute for Neuroscience and Human Behavior, University of California, California, Los Angeles</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Semel Institute for Neuroscience and Human Behavior, University of California, California</wicri:orgArea></affiliation></author><author><name sortKey="Macarthur, Jacqueline A L" sort="Macarthur, Jacqueline A L" uniqKey="Macarthur J" first="Jacqueline A. L." last="Macarthur">Jacqueline A. L. Macarthur</name><affiliation wicri:level="1"><mods:affiliation>European Bioinformatics Institute (EMBL‐EBI), Wellcome Trust Genome Campus, Cambridge, Hinxton, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Bioinformatics Institute (EMBL‐EBI), Wellcome Trust Genome Campus, Cambridge, Hinxton</wicri:regionArea></affiliation></author><author><name sortKey="Maglott, Donna R" sort="Maglott, Donna R" uniqKey="Maglott D" first="Donna R." last="Maglott">Donna R. Maglott</name><affiliation><mods:affiliation>National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Maryland, Bethesda</mods:affiliation><wicri:noCountry code="subField">Bethesda</wicri:noCountry></affiliation></author><author><name sortKey="Mons, Barend" sort="Mons, Barend" uniqKey="Mons B" first="Barend" last="Mons">Barend Mons</name><affiliation wicri:level="1"><mods:affiliation>Netherlands Bioinformatics Center, Leiden University Medical Center, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Netherlands Bioinformatics Center, Leiden University Medical Center</wicri:regionArea></affiliation></author><author><name sortKey="Rehm, Heidi L" sort="Rehm, Heidi L" uniqKey="Rehm H" first="Heidi L." last="Rehm">Heidi L. Rehm</name><affiliation wicri:level="2"><mods:affiliation>Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge</wicri:cityArea></affiliation><affiliation wicri:level="3"><mods:affiliation>Department of Pathology, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Department of Pathology, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Schofield, Paul N" sort="Schofield, Paul N" uniqKey="Schofield P" first="Paul N." last="Schofield">Paul N. 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Zhao</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The University of British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, The University of British Columbia, Vancouver</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:610F824FDD0AA58406B97AE597A06333A6091223</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/humu.22293</idno><idno type="url">https://api-v5.istex.fr/document/610F824FDD0AA58406B97AE597A06333A6091223/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002521</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002521</idno><idno type="wicri:Area/Istex/Curation">002521</idno></publicationStmt><sourceDesc><biblStruct><analytic><author><name sortKey="Oetting, William S" sort="Oetting, William S" uniqKey="Oetting W" first="William S." last="Oetting">William S. Oetting</name><affiliation><mods:affiliation>Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minnesota, Minneapolis</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: oetti001@umn.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation wicri:level="1"><mods:affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S." last="Greenblatt">Marc S. Greenblatt</name><affiliation><mods:affiliation>Department of Medicine and Vermont Cancer Center, University of Vermont, Vermont, Burlington</mods:affiliation><wicri:noCountry code="subField">Burlington</wicri:noCountry></affiliation></author><author><name sortKey="Cotton, Richard G" sort="Cotton, Richard G" uniqKey="Cotton R" first="Richard G." last="Cotton">Richard G. Cotton</name><affiliation wicri:level="1"><mods:affiliation>The Human Variome Project Coordinating Office, University of Melbourne, Melbourne, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Human Variome Project Coordinating Office, University of Melbourne, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Beck, Tim" sort="Beck, Tim" uniqKey="Beck T" first="Tim" last="Beck">Tim Beck</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics, University of Leicester, Leicester, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Genetics, University of Leicester, Leicester</wicri:regionArea></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><mods:affiliation>Department of Pediatrics, University of Utah School of Medicine, Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation></author><author><name sortKey="Doelken, Sandra C" sort="Doelken, Sandra C" uniqKey="Doelken S" first="Sandra C." last="Doelken">Sandra C. Doelken</name><affiliation wicri:level="1"><mods:affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Genetics and Human Genetics, Charité Universitätesmedizin Berlin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Girdea, Marta" sort="Girdea, Marta" uniqKey="Girdea M" first="Marta" last="Girdea">Marta Girdea</name><affiliation wicri:level="1"><mods:affiliation>University of Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Groza, Tudor" sort="Groza, Tudor" uniqKey="Groza T" first="Tudor" last="Groza">Tudor Groza</name><affiliation wicri:level="1"><mods:affiliation>School of Information Technology and Electrical Engineering, University of Queensland, St. Lucia, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Information Technology and Electrical Engineering, University of Queensland, St. Lucia</wicri:regionArea></affiliation></author><author><name sortKey="Hamilton, Carol M" sort="Hamilton, Carol M" uniqKey="Hamilton C" first="Carol M." last="Hamilton">Carol M. Hamilton</name><affiliation><mods:affiliation>Research Computing Division, RTI International, Research Triangle Park, North Carolina, Durham</mods:affiliation><wicri:noCountry code="subField">Durham</wicri:noCountry></affiliation></author><author><name sortKey="Hamosh, Ada" sort="Hamosh, Ada" uniqKey="Hamosh A" first="Ada" last="Hamosh">Ada Hamosh</name><affiliation wicri:level="3"><mods:affiliation>McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Maryland, Baltimore</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName><wicri:orgArea>McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Maryland</wicri:orgArea></affiliation></author><author><name sortKey="Kerner, Berit" sort="Kerner, Berit" uniqKey="Kerner B" first="Berit" last="Kerner">Berit Kerner</name><affiliation wicri:level="3"><mods:affiliation>Semel Institute for Neuroscience and Human Behavior, University of California, California, Los Angeles</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Semel Institute for Neuroscience and Human Behavior, University of California, California</wicri:orgArea></affiliation></author><author><name sortKey="Macarthur, Jacqueline A L" sort="Macarthur, Jacqueline A L" uniqKey="Macarthur J" first="Jacqueline A. L." last="Macarthur">Jacqueline A. L. Macarthur</name><affiliation wicri:level="1"><mods:affiliation>European Bioinformatics Institute (EMBL‐EBI), Wellcome Trust Genome Campus, Cambridge, Hinxton, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Bioinformatics Institute (EMBL‐EBI), Wellcome Trust Genome Campus, Cambridge, Hinxton</wicri:regionArea></affiliation></author><author><name sortKey="Maglott, Donna R" sort="Maglott, Donna R" uniqKey="Maglott D" first="Donna R." last="Maglott">Donna R. Maglott</name><affiliation><mods:affiliation>National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Maryland, Bethesda</mods:affiliation><wicri:noCountry code="subField">Bethesda</wicri:noCountry></affiliation></author><author><name sortKey="Mons, Barend" sort="Mons, Barend" uniqKey="Mons B" first="Barend" last="Mons">Barend Mons</name><affiliation wicri:level="1"><mods:affiliation>Netherlands Bioinformatics Center, Leiden University Medical Center, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Netherlands Bioinformatics Center, Leiden University Medical Center</wicri:regionArea></affiliation></author><author><name sortKey="Rehm, Heidi L" sort="Rehm, Heidi L" uniqKey="Rehm H" first="Heidi L." last="Rehm">Heidi L. Rehm</name><affiliation wicri:level="2"><mods:affiliation>Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge</wicri:cityArea></affiliation><affiliation wicri:level="3"><mods:affiliation>Department of Pathology, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Department of Pathology, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Schofield, Paul N" sort="Schofield, Paul N" uniqKey="Schofield P" first="Paul N." last="Schofield">Paul N. Schofield</name><affiliation wicri:level="1"><mods:affiliation>Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Searle, Beverly A" sort="Searle, Beverly A" uniqKey="Searle B" first="Beverly A." last="Searle">Beverly A. Searle</name><affiliation wicri:level="1"><mods:affiliation>Unique, Caterham, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Unique, Caterham</wicri:regionArea></affiliation></author><author><name sortKey="Smedley, Damian" sort="Smedley, Damian" uniqKey="Smedley D" first="Damian" last="Smedley">Damian Smedley</name><affiliation wicri:level="1"><mods:affiliation>Wellcome Trust Genome Campus, Cambridge, Hinxton, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Genome Campus, Cambridge, Hinxton</wicri:regionArea></affiliation></author><author><name sortKey="Smith, Cynthia L" sort="Smith, Cynthia L" uniqKey="Smith C" first="Cynthia L." last="Smith">Cynthia L. Smith</name><affiliation><mods:affiliation>The Jackson Laboratory, Maine, Bar Harbor</mods:affiliation><wicri:noCountry code="subField">Harbor</wicri:noCountry></affiliation></author><author><name sortKey="Bernstein, Inge Thomsen" sort="Bernstein, Inge Thomsen" uniqKey="Bernstein I" first="Inge Thomsen" last="Bernstein">Inge Thomsen Bernstein</name><affiliation wicri:level="1"><mods:affiliation>The HNPCC‐register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>The HNPCC‐register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre</wicri:regionArea></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation wicri:level="1"><mods:affiliation>University of Queensland's Centre for Clinical Research, The University of Queensland, Brisbane, Herston, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland's Centre for Clinical Research, The University of Queensland, Brisbane, Herston</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Eric Y" sort="Zhao, Eric Y" uniqKey="Zhao E" first="Eric Y." last="Zhao">Eric Y. Zhao</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The University of British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, The University of British Columbia, Vancouver</wicri:regionArea></affiliation></author></analytic><series><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was “Getting Ready for the Human Phenome Project.” Understanding the genetic contribution to both rare single‐gene “Mendelian” disorders and more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort toward this important goal.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
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