How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
Identifieur interne : 000168 ( Istex/Corpus ); précédent : 000167; suivant : 000169How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
Auteurs : Maija R. J. Kohonen-Corish ; Jumana Y. Al-Aama ; Arleen D. Auerbach ; Myles Axton ; Carol Isaacson Barash ; Inge Bernstein ; Christophe Béroud ; John Burn ; Fiona Cunningham ; Garry R. Cutting ; Johan T. Den Dunnen ; Marc S. Greenblatt ; Jim Kaput ; Michael Katz ; Annika Lindblom ; Finlay Macrae ; Donna Maglott ; Gabriela Möslein ; Sue Povey ; Raj Ramesar ; Sue Richards ; Daniela Seminara ; María-Jesús Sobrido ; Sean Tavtigian ; Graham Taylor ; Mauno Vihinen ; Ingrid Winship ; Richard G. H. CottonSource :
- Human Mutation [ 1059-7794 ] ; 2010-12.
English descriptors
- KwdEn :
- Access data, Advance variation data collection, American college, Biotechnology information, Central databases, Classification system, Clinical data, Clinical geneticists, Clinical genetics, Colorectal cancers, Complex sequence variants, Consortium, Copy number variant, Country node, Curation, Curator, Current framework, Data collection, Data transfer, Data types, Database, Database curators, Dbsnp reference numbers, Digital identifier, Disparate groups, Easy integration, Ethical issues, Family data, First meeting, Full report, Funding, Funding mechanisms, Garvan institute, Gen2phen project, Genet cotton, Genetic, Genetic disease, Genetic knowledge, Genetic medicine, Genetic variants, Genetic variation, Genetic variations, Genetics, Genome, Genomic disorders research center, Genotype, Healthcare, Hereditary breast, Hgnc gene names, Hgvs, Hgvs nomenclature, Hgvs recommendations, Hgvs website, Human disease, Human genetics, Human genome, Human genome project, Human health, Human mutation, Human variome, Human variome project, Human variome project meeting, Iarc system, Identifier, International society, Knowledge base, Locus reference genomic, Lsdb, Lsdb object model, Lsdbs, Medical genetics, Medical research, Meeting report, Melbourne, Micronutrient genomics project, Molecular medicine, Mutation, Mutation data, Mutation databases, National center, Natural successor, Neurogenetics consortium, Node, Ontology, Other resources, Overall data integration, Pathogenicity, Phenotype, Phenotype information, Phenotypic data, Pilot study, Public databases, Quality control, Rare disorders, Robust process, Royal melbourne hospital, Sequence format, Sequence variants, Software tools, Unclassified variants, Unesco, Unesco headquarters, Unesco patronage, Unnecessary duplication, Unpublished data, Variant, Variation databases, Variome, Versioning system, Walter erdelen, Website, Workgroup.
- Teeft :
- Access data, Advance variation data collection, American college, Biotechnology information, Central databases, Classification system, Clinical data, Clinical geneticists, Clinical genetics, Colorectal cancers, Complex sequence variants, Consortium, Copy number variant, Country node, Curation, Curator, Current framework, Data collection, Data transfer, Data types, Database, Database curators, Dbsnp reference numbers, Digital identifier, Disparate groups, Easy integration, Ethical issues, Family data, First meeting, Full report, Funding, Funding mechanisms, Garvan institute, Gen2phen project, Genet cotton, Genetic, Genetic disease, Genetic knowledge, Genetic medicine, Genetic variants, Genetic variation, Genetic variations, Genetics, Genome, Genomic disorders research center, Genotype, Healthcare, Hereditary breast, Hgnc gene names, Hgvs, Hgvs nomenclature, Hgvs recommendations, Hgvs website, Human disease, Human genetics, Human genome, Human genome project, Human health, Human mutation, Human variome, Human variome project, Human variome project meeting, Iarc system, Identifier, International society, Knowledge base, Locus reference genomic, Lsdb, Lsdb object model, Lsdbs, Medical genetics, Medical research, Meeting report, Melbourne, Micronutrient genomics project, Molecular medicine, Mutation, Mutation data, Mutation databases, National center, Natural successor, Neurogenetics consortium, Node, Ontology, Other resources, Overall data integration, Pathogenicity, Phenotype, Phenotype information, Phenotypic data, Pilot study, Public databases, Quality control, Rare disorders, Robust process, Royal melbourne hospital, Sequence format, Sequence variants, Software tools, Unclassified variants, Unesco, Unesco headquarters, Unesco patronage, Unnecessary duplication, Unpublished data, Variant, Variation databases, Variome, Versioning system, Walter erdelen, Website, Workgroup.
Abstract
The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access—Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access—Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.21379
Links to Exploration step
ISTEX:085EF4EACC09E00A40B07EB352F796B4D6CAE1DALe document en format XML
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H." last="Cotton">Richard G. H. Cotton</name><affiliation><mods:affiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:085EF4EACC09E00A40B07EB352F796B4D6CAE1DA</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/humu.21379</idno><idno type="url">https://api.istex.fr/document/085EF4EACC09E00A40B07EB352F796B4D6CAE1DA/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000168</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000168</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010</title><author><name sortKey="Kohonen Orish, Maija R J" sort="Kohonen Orish, Maija R J" uniqKey="Kohonen Orish M" first="Maija R. J." last="Kohonen-Corish">Maija R. J. Kohonen-Corish</name><affiliation><mods:affiliation>Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: m.corish@garvan.org.au</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia</mods:affiliation></affiliation></author><author><name sortKey="Al Ama, Jumana Y" sort="Al Ama, Jumana Y" uniqKey="Al Ama J" first="Jumana Y." last="Al-Aama">Jumana Y. Al-Aama</name><affiliation><mods:affiliation>Department of Genetic Medicine, Faculty of Medicine and Princess Al‐Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia</mods:affiliation></affiliation></author><author><name sortKey="Auerbach, Arleen D" sort="Auerbach, Arleen D" uniqKey="Auerbach A" first="Arleen D." last="Auerbach">Arleen D. Auerbach</name><affiliation><mods:affiliation>Program in Human Genetics and Hematology, The Rockefeller University, New York, New York</mods:affiliation></affiliation></author><author><name sortKey="Axton, Myles" sort="Axton, Myles" uniqKey="Axton M" first="Myles" last="Axton">Myles Axton</name><affiliation><mods:affiliation>Nature Publishing Group, New York, New York</mods:affiliation></affiliation></author><author><name sortKey="Barash, Carol Isaacson" sort="Barash, Carol Isaacson" uniqKey="Barash C" first="Carol Isaacson" last="Barash">Carol Isaacson Barash</name><affiliation><mods:affiliation>Boston University, Department of Philosophy, Genetics, Ethics & Policy Consulting, Boston, Massachusetts</mods:affiliation></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><mods:affiliation>Department of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><mods:affiliation>INSERM U827, Laboratoire de Génétique Moléculaire, Université Montpellier 1, Hôpital Arnaud de Villeneuve, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name><affiliation><mods:affiliation>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Cunningham, Fiona" sort="Cunningham, Fiona" uniqKey="Cunningham F" first="Fiona" last="Cunningham">Fiona Cunningham</name><affiliation><mods:affiliation>European Bioinformatics Institute (EBI), Hinxton, Cambridge, CB10 1SD, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Cutting, Garry R" sort="Cutting, Garry R" uniqKey="Cutting G" first="Garry R." last="Cutting">Garry R. Cutting</name><affiliation><mods:affiliation>Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</mods:affiliation></affiliation></author><author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T." last="Den Dunnen">Johan T. Den Dunnen</name><affiliation><mods:affiliation>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation></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>University of Vermont College of Medicine, Burlington, Vermont</mods:affiliation></affiliation></author><author><name sortKey="Kaput, Jim" sort="Kaput, Jim" uniqKey="Kaput J" first="Jim" last="Kaput">Jim Kaput</name><affiliation><mods:affiliation>Division of Personalized Nutrition and Medicine, U.S. FDA National Center for Toxicological Research, Jefferson, Arkansas</mods:affiliation></affiliation></author><author><name sortKey="Katz, Michael" sort="Katz, Michael" uniqKey="Katz M" first="Michael" last="Katz">Michael Katz</name><affiliation><mods:affiliation>March of Dimes Foundation, White Plains, New York</mods:affiliation></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><mods:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><mods:affiliation>Department of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)</mods:affiliation></affiliation></author><author><name sortKey="Maglott, Donna" sort="Maglott, Donna" uniqKey="Maglott D" first="Donna" last="Maglott">Donna Maglott</name><affiliation><mods:affiliation>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</mods:affiliation></affiliation></author><author><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name><affiliation><mods:affiliation>HELIOS St. Josefs‐Hospital, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Povey, Sue" sort="Povey, Sue" uniqKey="Povey S" first="Sue" last="Povey">Sue Povey</name><affiliation><mods:affiliation>Division of Life Sciences, UCL, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Ramesar, Raj" sort="Ramesar, Raj" uniqKey="Ramesar R" first="Raj" last="Ramesar">Raj Ramesar</name><affiliation><mods:affiliation>MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Richards, Sue" sort="Richards, Sue" uniqKey="Richards S" first="Sue" last="Richards">Sue Richards</name><affiliation><mods:affiliation>Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon</mods:affiliation></affiliation></author><author><name sortKey="Seminara, Daniela" sort="Seminara, Daniela" uniqKey="Seminara D" first="Daniela" last="Seminara">Daniela Seminara</name><affiliation><mods:affiliation>National Cancer Institute, Bethesda, Maryland</mods:affiliation></affiliation></author><author><name sortKey="Sobrido, Maria Esus" sort="Sobrido, Maria Esus" uniqKey="Sobrido M" first="María-Jesús" last="Sobrido">María-Jesús Sobrido</name><affiliation><mods:affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, Spain</mods:affiliation></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation><mods:affiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</mods:affiliation></affiliation></author><author><name sortKey="Taylor, Graham" sort="Taylor, Graham" uniqKey="Taylor G" first="Graham" last="Taylor">Graham Taylor</name><affiliation><mods:affiliation>St. James's University Hospital, Leeds, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Vihinen, Mauno" sort="Vihinen, Mauno" uniqKey="Vihinen M" first="Mauno" last="Vihinen">Mauno Vihinen</name><affiliation><mods:affiliation>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland</mods:affiliation></affiliation></author><author><name sortKey="Winship, Ingrid" sort="Winship, Ingrid" uniqKey="Winship I" first="Ingrid" last="Winship">Ingrid Winship</name><affiliation><mods:affiliation>University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 Australia</mods:affiliation></affiliation></author><author><name sortKey="Cotton, Richard G H" sort="Cotton, Richard G H" uniqKey="Cotton R" first="Richard G. H." last="Cotton">Richard G. H. Cotton</name><affiliation><mods:affiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">31</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1374">1374</biblScope><biblScope unit="page" to="1381">1381</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-12">2010-12</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Access data</term><term>Advance 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disease</term><term>Genetic knowledge</term><term>Genetic medicine</term><term>Genetic variants</term><term>Genetic variation</term><term>Genetic variations</term><term>Genetics</term><term>Genome</term><term>Genomic disorders research center</term><term>Genotype</term><term>Healthcare</term><term>Hereditary breast</term><term>Hgnc gene names</term><term>Hgvs</term><term>Hgvs nomenclature</term><term>Hgvs recommendations</term><term>Hgvs website</term><term>Human disease</term><term>Human genetics</term><term>Human genome</term><term>Human genome project</term><term>Human health</term><term>Human mutation</term><term>Human variome</term><term>Human variome project</term><term>Human variome project meeting</term><term>Iarc system</term><term>Identifier</term><term>International society</term><term>Knowledge base</term><term>Locus reference genomic</term><term>Lsdb</term><term>Lsdb object model</term><term>Lsdbs</term><term>Medical genetics</term><term>Medical research</term><term>Meeting report</term><term>Melbourne</term><term>Micronutrient genomics project</term><term>Molecular medicine</term><term>Mutation</term><term>Mutation data</term><term>Mutation databases</term><term>National center</term><term>Natural successor</term><term>Neurogenetics consortium</term><term>Node</term><term>Ontology</term><term>Other resources</term><term>Overall data integration</term><term>Pathogenicity</term><term>Phenotype</term><term>Phenotype information</term><term>Phenotypic data</term><term>Pilot study</term><term>Public databases</term><term>Quality control</term><term>Rare disorders</term><term>Robust process</term><term>Royal melbourne hospital</term><term>Sequence format</term><term>Sequence variants</term><term>Software tools</term><term>Unclassified variants</term><term>Unesco</term><term>Unesco headquarters</term><term>Unesco patronage</term><term>Unnecessary duplication</term><term>Unpublished data</term><term>Variant</term><term>Variation databases</term><term>Variome</term><term>Versioning system</term><term>Walter erdelen</term><term>Website</term><term>Workgroup</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Access data</term><term>Advance variation data collection</term><term>American college</term><term>Biotechnology information</term><term>Central databases</term><term>Classification system</term><term>Clinical data</term><term>Clinical geneticists</term><term>Clinical genetics</term><term>Colorectal cancers</term><term>Complex sequence variants</term><term>Consortium</term><term>Copy number variant</term><term>Country node</term><term>Curation</term><term>Curator</term><term>Current framework</term><term>Data collection</term><term>Data transfer</term><term>Data types</term><term>Database</term><term>Database curators</term><term>Dbsnp reference numbers</term><term>Digital identifier</term><term>Disparate groups</term><term>Easy integration</term><term>Ethical issues</term><term>Family data</term><term>First meeting</term><term>Full report</term><term>Funding</term><term>Funding mechanisms</term><term>Garvan institute</term><term>Gen2phen project</term><term>Genet cotton</term><term>Genetic</term><term>Genetic disease</term><term>Genetic knowledge</term><term>Genetic medicine</term><term>Genetic variants</term><term>Genetic variation</term><term>Genetic variations</term><term>Genetics</term><term>Genome</term><term>Genomic disorders research center</term><term>Genotype</term><term>Healthcare</term><term>Hereditary breast</term><term>Hgnc gene names</term><term>Hgvs</term><term>Hgvs nomenclature</term><term>Hgvs recommendations</term><term>Hgvs website</term><term>Human disease</term><term>Human genetics</term><term>Human genome</term><term>Human genome project</term><term>Human health</term><term>Human mutation</term><term>Human variome</term><term>Human variome project</term><term>Human variome project meeting</term><term>Iarc system</term><term>Identifier</term><term>International society</term><term>Knowledge base</term><term>Locus reference genomic</term><term>Lsdb</term><term>Lsdb object model</term><term>Lsdbs</term><term>Medical genetics</term><term>Medical research</term><term>Meeting report</term><term>Melbourne</term><term>Micronutrient genomics project</term><term>Molecular medicine</term><term>Mutation</term><term>Mutation data</term><term>Mutation databases</term><term>National center</term><term>Natural successor</term><term>Neurogenetics consortium</term><term>Node</term><term>Ontology</term><term>Other resources</term><term>Overall data integration</term><term>Pathogenicity</term><term>Phenotype</term><term>Phenotype information</term><term>Phenotypic data</term><term>Pilot study</term><term>Public databases</term><term>Quality control</term><term>Rare disorders</term><term>Robust process</term><term>Royal melbourne hospital</term><term>Sequence format</term><term>Sequence variants</term><term>Software tools</term><term>Unclassified variants</term><term>Unesco</term><term>Unesco headquarters</term><term>Unesco patronage</term><term>Unnecessary duplication</term><term>Unpublished data</term><term>Variant</term><term>Variation databases</term><term>Variome</term><term>Versioning system</term><term>Walter erdelen</term><term>Website</term><term>Workgroup</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access—Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access—Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>database</json:string><json:string>mutation</json:string><json:string>phenotype</json:string><json:string>variome</json:string><json:string>workgroup</json:string><json:string>lsdbs</json:string><json:string>genetics</json:string><json:string>pathogenicity</json:string><json:string>human variome project</json:string><json:string>hgvs</json:string><json:string>consortium</json:string><json:string>curation</json:string><json:string>genome</json:string><json:string>unesco</json:string><json:string>healthcare</json:string><json:string>node</json:string><json:string>human mutation</json:string><json:string>genotype</json:string><json:string>website</json:string><json:string>lsdb</json:string><json:string>identifier</json:string><json:string>sequence variants</json:string><json:string>data collection</json:string><json:string>ontology</json:string><json:string>funding</json:string><json:string>variant</json:string><json:string>data transfer</json:string><json:string>melbourne</json:string><json:string>genetic variation</json:string><json:string>medical genetics</json:string><json:string>international society</json:string><json:string>human genetics</json:string><json:string>overall data integration</json:string><json:string>hgvs recommendations</json:string><json:string>phenotype information</json:string><json:string>central databases</json:string><json:string>genetic knowledge</json:string><json:string>first meeting</json:string><json:string>american college</json:string><json:string>clinical data</json:string><json:string>mutation data</json:string><json:string>rare disorders</json:string><json:string>country node</json:string><json:string>unclassified variants</json:string><json:string>human genome project</json:string><json:string>ethical issues</json:string><json:string>genetic variants</json:string><json:string>iarc system</json:string><json:string>genetic</json:string><json:string>phenotypic data</json:string><json:string>unnecessary duplication</json:string><json:string>natural successor</json:string><json:string>current framework</json:string><json:string>walter erdelen</json:string><json:string>clinical genetics</json:string><json:string>national center</json:string><json:string>molecular medicine</json:string><json:string>medical research</json:string><json:string>hereditary breast</json:string><json:string>colorectal cancers</json:string><json:string>royal melbourne hospital</json:string><json:string>meeting report</json:string><json:string>genetic variations</json:string><json:string>funding mechanisms</json:string><json:string>variation databases</json:string><json:string>advance variation data collection</json:string><json:string>micronutrient genomics project</json:string><json:string>biotechnology information</json:string><json:string>copy number variant</json:string><json:string>complex sequence variants</json:string><json:string>neurogenetics consortium</json:string><json:string>genetic disease</json:string><json:string>unpublished data</json:string><json:string>genetic medicine</json:string><json:string>versioning system</json:string><json:string>locus reference genomic</json:string><json:string>sequence format</json:string><json:string>human variome project meeting</json:string><json:string>unesco patronage</json:string><json:string>human genome</json:string><json:string>unesco headquarters</json:string><json:string>software tools</json:string><json:string>public databases</json:string><json:string>garvan institute</json:string><json:string>mutation databases</json:string><json:string>gen2phen project</json:string><json:string>genomic disorders research center</json:string><json:string>data types</json:string><json:string>classification system</json:string><json:string>disparate groups</json:string><json:string>human variome</json:string><json:string>pilot study</json:string><json:string>clinical geneticists</json:string><json:string>family data</json:string><json:string>human health</json:string><json:string>hgvs website</json:string><json:string>quality control</json:string><json:string>hgvs nomenclature</json:string><json:string>hgnc gene names</json:string><json:string>dbsnp reference numbers</json:string><json:string>lsdb object model</json:string><json:string>easy integration</json:string><json:string>other resources</json:string><json:string>database curators</json:string><json:string>digital identifier</json:string><json:string>access data</json:string><json:string>robust process</json:string><json:string>full report</json:string><json:string>knowledge base</json:string><json:string>human disease</json:string><json:string>genet cotton</json:string><json:string>curator</json:string></teeft></keywords><author><json:item><name>Maija R.J. Kohonen‐Corish</name><affiliations><json:string>Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia</json:string><json:string>E-mail: m.corish@garvan.org.au</json:string><json:string>Correspondence address: Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia</json:string></affiliations></json:item><json:item><name>Jumana Y. Al‐Aama</name><affiliations><json:string>Department of Genetic Medicine, Faculty of Medicine and Princess Al‐Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia</json:string></affiliations></json:item><json:item><name>Arleen D. Auerbach</name><affiliations><json:string>Program in Human Genetics and Hematology, The Rockefeller University, New York, New York</json:string></affiliations></json:item><json:item><name>Myles Axton</name><affiliations><json:string>Nature Publishing Group, New York, New York</json:string></affiliations></json:item><json:item><name>Carol Isaacson Barash</name><affiliations><json:string>Boston University, Department of Philosophy, Genetics, Ethics & Policy Consulting, Boston, Massachusetts</json:string></affiliations></json:item><json:item><name>Inge Bernstein</name><affiliations><json:string>Department of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, Denmark</json:string></affiliations></json:item><json:item><name>Christophe Béroud</name><affiliations><json:string>INSERM U827, Laboratoire de Génétique Moléculaire, Université Montpellier 1, Hôpital Arnaud de Villeneuve, Montpellier, France</json:string></affiliations></json:item><json:item><name>John Burn</name><affiliations><json:string>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom</json:string></affiliations></json:item><json:item><name>Fiona Cunningham</name><affiliations><json:string>European Bioinformatics Institute (EBI), Hinxton, Cambridge, CB10 1SD, United Kingdom</json:string></affiliations></json:item><json:item><name>Garry R. Cutting</name><affiliations><json:string>Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</json:string></affiliations></json:item><json:item><name>Johan T. den Dunnen</name><affiliations><json:string>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Marc S. Greenblatt</name><affiliations><json:string>University of Vermont College of Medicine, Burlington, Vermont</json:string></affiliations></json:item><json:item><name>Jim Kaput</name><affiliations><json:string>Division of Personalized Nutrition and Medicine, U.S. FDA National Center for Toxicological Research, Jefferson, Arkansas</json:string></affiliations></json:item><json:item><name>Michael Katz</name><affiliations><json:string>March of Dimes Foundation, White Plains, New York</json:string></affiliations></json:item><json:item><name>Annika Lindblom</name><affiliations><json:string>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Finlay Macrae</name><affiliations><json:string>Department of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)</json:string></affiliations></json:item><json:item><name>Donna Maglott</name><affiliations><json:string>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</json:string></affiliations></json:item><json:item><name>Gabriela Möslein</name><affiliations><json:string>HELIOS St. Josefs‐Hospital, Bochum, Germany</json:string></affiliations></json:item><json:item><name>Sue Povey</name><affiliations><json:string>Division of Life Sciences, UCL, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Raj Ramesar</name><affiliations><json:string>MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Sue Richards</name><affiliations><json:string>Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon</json:string></affiliations></json:item><json:item><name>Daniela Seminara</name><affiliations><json:string>National Cancer Institute, Bethesda, Maryland</json:string></affiliations></json:item><json:item><name>María‐Jesús Sobrido</name><affiliations><json:string>Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, Spain</json:string></affiliations></json:item><json:item><name>Sean Tavtigian</name><affiliations><json:string>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</json:string></affiliations></json:item><json:item><name>Graham Taylor</name><affiliations><json:string>St. James's University Hospital, Leeds, United Kingdom</json:string></affiliations></json:item><json:item><name>Mauno Vihinen</name><affiliations><json:string>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland</json:string></affiliations></json:item><json:item><name>Ingrid Winship</name><affiliations><json:string>University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 Australia</json:string></affiliations></json:item><json:item><name>Richard G.H. Cotton</name><affiliations><json:string>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>variation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genomics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic disease</value></json:item></subject><articleId><json:string>HUMU21379</json:string></articleId><arkIstex>ark:/67375/WNG-K007NJLC-F</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>meetingReport</json:string></originalGenre><abstract>The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access—Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access—Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>9.4</score><pdfWordCount>6913</pdfWordCount><pdfCharCount>46085</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>8</pdfPageCount><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>200</abstractWordCount><abstractCharCount>1461</abstractCharCount><keywordCount>4</keywordCount></qualityIndicators><title>How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010</title><pmid><json:string>20960468</json:string></pmid><corporate><json:item><name>on behalf of contributors to the Human Variome Project Meeting</name></json:item></corporate><genre><json:string>conference</json:string></genre><host><title>Human Mutation</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1098-1004</json:string></doi><issn><json:string>1059-7794</json:string></issn><eissn><json:string>1098-1004</json:string></eissn><publisherId><json:string>HUMU</json:string></publisherId><volume>31</volume><issue>12</issue><pages><first>1374</first><last>1381</last><total>8</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Meeting Report</value></json:item></subject></host><namedEntities><unitex><date><json:string>2009</json:string><json:string>2011</json:string><json:string>1950s</json:string><json:string>1990s</json:string><json:string>2006</json:string><json:string>1970s</json:string><json:string>1376</json:string><json:string>in the 21st century</json:string><json:string>2008</json:string><json:string>2010</json:string><json:string>1989</json:string><json:string>1980s</json:string></date><geogName></geogName><orgName><json:string>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland</json:string><json:string>Nutrigenomics Organization</json:string><json:string>Cancer Research Program, Garvan Institute of Medical Research</json:string><json:string>Research on Cancer</json:string><json:string>WHO</json:string><json:string>Society for Gastrointestinal Hereditary Tumours</json:string><json:string>NCBI</json:string><json:string>University Hospital, Leeds, United Kingdom</json:string><json:string>Department of Molecular Medicine and Surgery</json:string><json:string>University of Cape Town, South Africa</json:string><json:string>University of Vermont College of Medicine</json:string><json:string>University of Melbourne Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia</json:string><json:string>IARC</json:string><json:string>Institute of Human Genetics, Newcastle University, Newcastle</json:string><json:string>Organization for Economic Co</json:string><json:string>Pan Asian Consortium, the Center for Arab Genomic Studies</json:string><json:string>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</json:string><json:string>Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</json:string><json:string>Peripheral Systems</json:string><json:string>Science University</json:string><json:string>Al-Jawhara Center</json:string><json:string>Institute of Human Genetics</json:string><json:string>LISS, INC</json:string><json:string>National Institutes of Health Colon Family Register</json:string><json:string>Biomedical National Cancer Institute, Bethesda, Maryland</json:string><json:string>Karolinska Institutet</json:string><json:string>American College of Medical Genetics</json:string><json:string>Department of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, Denmark</json:string><json:string>Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia</json:string><json:string>Division of Basic</json:string><json:string>Department of Philosophy, Genetics, Ethics</json:string><json:string>International Agency</json:string><json:string>Division of Personalized Nutrition</json:string><json:string>United Nations Educational, Scientific</json:string><json:string>Wiley-Liss, Inc.</json:string><json:string>Ibero–American HVP</json:string><json:string>The Rockefeller University</json:string><json:string>Cultural Organization</json:string><json:string>Compostela, Center</json:string><json:string>National Center for Biotechnology Information</json:string><json:string>Royal Melbourne Hospital, Melbourne, Victoria</json:string><json:string>Clinical Molecular Laboratories</json:string><json:string>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia Received</json:string><json:string>Neurogenetics Consortium Satellite Meeting Establish</json:string><json:string>Department of Colorectal Medicine and Genetics</json:string><json:string>Leiden University</json:string><json:string>World Health Organisation</json:string><json:string>Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours</json:string><json:string>Genomic Disorders Research Center</json:string><json:string>University of Melbourne</json:string><json:string>Boston University</json:string><json:string>Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine</json:string><json:string>Medical Center, Leiden</json:string><json:string>Institute of Health Carlos</json:string><json:string>Cancer Research Program, Garvan Institute of Medical Research, St</json:string><json:string>FDA National Center for Toxicological Research, Jefferson, Arkansas</json:string><json:string>Central Systems</json:string><json:string>Dimes Foundation, White Plains, New York</json:string><json:string>NCBI-National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</json:string><json:string>Josefs-Hospital, Bochum, Germany</json:string><json:string>Division of Life Sciences</json:string><json:string>Fundacio Pu Network Research on Rare Disorders</json:string><json:string>UNESCO</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Director-General</json:string><json:string>Graham Taylor</json:string><json:string>Sue Povey</json:string><json:string>Arnaud de Villeneuve</json:string><json:string>G.H. Cotton</json:string><json:string>Casimiro</json:string><json:string>Peter Robinson</json:string><json:string>Jumana Y. Al-Aama</json:string><json:string>Mark Paalman</json:string><json:string>Fiona Cunningham</json:string><json:string>Tim Smith</json:string><json:string>R.J. Kohonen-Corish</json:string><json:string>Heather Howard</json:string><json:string>Michael Katz</json:string><json:string>Christophe Beroud</json:string><json:string>Jim Kaput</json:string><json:string>Remove</json:string><json:string>Daniela Seminara</json:string><json:string>Sean Tavtigian</json:string><json:string>Walter Erdelen</json:string><json:string>Carol Isaacson</json:string><json:string>Richard Cotton</json:string><json:string>Victoria Street</json:string><json:string>Lauren Martin</json:string><json:string>Rania Horaitis</json:string><json:string>Gabriela Moslein</json:string><json:string>Erdelen</json:string><json:string>To</json:string><json:string>Inge Bernstein</json:string><json:string>Ingrid Winship</json:string><json:string>Sue Richards</json:string><json:string>Oregon Health</json:string><json:string>Maciej Nalecz</json:string><json:string>Donna Maglott</json:string><json:string>Annika Lindblom</json:string><json:string>Julia Hasler</json:string><json:string>D. 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[2009]</json:string><json:string>Cotton et al., 2008</json:string><json:string>Ring et al., 2006</json:string><json:string>Cotton et al., 2007</json:string><json:string>Cotton et al. 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role="corresp"><persName><forename type="first">Maija R.J.</forename><surname>Kohonen‐Corish</surname></persName><email>m.corish@garvan.org.au</email><affiliation>Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia<address><country key="AU"></country></address></affiliation><affiliation>Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Jumana Y.</forename><surname>Al‐Aama</surname></persName><affiliation>Department of Genetic Medicine, Faculty of Medicine and Princess Al‐Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia<address><country key="SA"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Arleen D.</forename><surname>Auerbach</surname></persName><affiliation>Program in Human Genetics and Hematology, The Rockefeller University, New York, New York<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Myles</forename><surname>Axton</surname></persName><affiliation>Nature Publishing Group, New York, New York<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Carol Isaacson</forename><surname>Barash</surname></persName><affiliation>Boston University, Department of Philosophy, Genetics, Ethics & Policy Consulting, Boston, Massachusetts<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Inge</forename><surname>Bernstein</surname></persName><affiliation>Department of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, Denmark<address><country key="DK"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Christophe</forename><surname>Béroud</surname></persName><affiliation>INSERM U827, Laboratoire de Génétique Moléculaire, Université Montpellier 1, Hôpital Arnaud de Villeneuve, Montpellier, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">John</forename><surname>Burn</surname></persName><affiliation>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">Fiona</forename><surname>Cunningham</surname></persName><affiliation>European Bioinformatics Institute (EBI), Hinxton, Cambridge, CB10 1SD, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Garry R.</forename><surname>Cutting</surname></persName><affiliation>Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Johan T.</forename><surname>den Dunnen</surname></persName><affiliation>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">Marc S.</forename><surname>Greenblatt</surname></persName><affiliation>University of Vermont College of Medicine, Burlington, Vermont<address><country key="US"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Jim</forename><surname>Kaput</surname></persName><affiliation>Division of Personalized Nutrition and Medicine, U.S. FDA National Center 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Gastrointestinal Hereditary Tumours (InSiGHT)<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0016"><persName><forename type="first">Donna</forename><surname>Maglott</surname></persName><affiliation>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0017"><persName><forename type="first">Gabriela</forename><surname>Möslein</surname></persName><affiliation>HELIOS St. Josefs‐Hospital, Bochum, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0018"><persName><forename type="first">Sue</forename><surname>Povey</surname></persName><affiliation>Division of Life Sciences, UCL, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0019"><persName><forename type="first">Raj</forename><surname>Ramesar</surname></persName><affiliation>MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa<address><country key="ZA"></country></address></affiliation></author><author xml:id="author-0020"><persName><forename type="first">Sue</forename><surname>Richards</surname></persName><affiliation>Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon<address><country key="US"></country></address></affiliation></author><author xml:id="author-0021"><persName><forename type="first">Daniela</forename><surname>Seminara</surname></persName><affiliation>National Cancer Institute, Bethesda, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0022"><persName><forename type="first">María‐Jesús</forename><surname>Sobrido</surname></persName><affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0023"><persName><forename type="first">Sean</forename><surname>Tavtigian</surname></persName><affiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah<address><country key="US"></country></address></affiliation></author><author xml:id="author-0024"><persName><forename type="first">Graham</forename><surname>Taylor</surname></persName><affiliation>St. James's University Hospital, Leeds, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0025"><persName><forename type="first">Mauno</forename><surname>Vihinen</surname></persName><affiliation>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland<address><country key="FI"></country></address></affiliation></author><author xml:id="author-0026"><persName><forename type="first">Ingrid</forename><surname>Winship</surname></persName><affiliation>University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0027"><persName><forename type="first">Richard G.H.</forename><surname>Cotton</surname></persName><affiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0028"><author><orgName>on behalf of contributors to the Human Variome Project Meeting</orgName></author></author><idno type="istex">085EF4EACC09E00A40B07EB352F796B4D6CAE1DA</idno><idno type="ark">ark:/67375/WNG-K007NJLC-F</idno><idno type="DOI">10.1002/humu.21379</idno><idno type="unit">HUMU21379</idno><idno type="toTypesetVersion">file:HUMU.HUMU21379.pdf</idno></analytic><monogr><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="pISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><idno type="book-DOI">10.1002/(ISSN)1098-1004</idno><idno type="book-part-DOI">10.1002/humu.v31:12</idno><idno type="product">HUMU</idno><imprint><biblScope unit="vol">31</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1374">1374</biblScope><biblScope unit="page" to="1381">1381</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-12"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access—Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access—Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">mutation</term><term xml:id="kwd2">variation</term><term xml:id="kwd3">genomics</term><term xml:id="kwd4">genetic disease</term></keywords><keywords rend="articleCategory"><term>Meeting Report</term></keywords><keywords rend="tocHeading1"><term>Meeting Reports</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/085EF4EACC09E00A40B07EB352F796B4D6CAE1DA/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1098-1004</doi><issn type="print">1059-7794</issn><issn type="electronic">1098-1004</issn><idGroup><id type="product" value="HUMU"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="HUMAN MUTATION">Human Mutation</title><title type="short">Hum. 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xml:id="af22" countryCode="US" type="organization"><unparsedAffiliation>National Cancer Institute, Bethesda, Maryland</unparsedAffiliation></affiliation><affiliation xml:id="af23" countryCode="ES" type="organization"><unparsedAffiliation>Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af24" countryCode="US" type="organization"><unparsedAffiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</unparsedAffiliation></affiliation><affiliation xml:id="af25" countryCode="GB" type="organization"><unparsedAffiliation>St. James's University Hospital, Leeds, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af26" countryCode="FI" type="organization"><unparsedAffiliation>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland</unparsedAffiliation></affiliation><affiliation xml:id="af27" countryCode="AU" type="organization"><unparsedAffiliation>University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 Australia</unparsedAffiliation></affiliation><affiliation xml:id="af28" countryCode="AU" type="organization"><unparsedAffiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">mutation</keyword><keyword xml:id="kwd2">variation</keyword><keyword xml:id="kwd3">genomics</keyword><keyword xml:id="kwd4">genetic disease</keyword></keywordGroup><supportingInformation><p>
Additional Supporting Information may be found in the online version of this article
</p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:10597794:media:humu21379:humu_21379_sm_SuppInfo"></mediaResource><caption>Supporting Information</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access—Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access—Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010</title></titleInfo><name type="personal"><namePart type="given">Maija R.J.</namePart><namePart type="family">Kohonen‐Corish</namePart><affiliation>Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia</affiliation><affiliation>E-mail: m.corish@garvan.org.au</affiliation><affiliation>Correspondence address: Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jumana Y.</namePart><namePart type="family">Al‐Aama</namePart><affiliation>Department of Genetic Medicine, Faculty of Medicine and Princess Al‐Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arleen D.</namePart><namePart type="family">Auerbach</namePart><affiliation>Program in Human Genetics and Hematology, The Rockefeller University, New York, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Myles</namePart><namePart type="family">Axton</namePart><affiliation>Nature Publishing Group, New York, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carol Isaacson</namePart><namePart type="family">Barash</namePart><affiliation>Boston University, Department of Philosophy, Genetics, Ethics & Policy Consulting, Boston, Massachusetts</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Inge</namePart><namePart type="family">Bernstein</namePart><affiliation>Department of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, Denmark</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christophe</namePart><namePart type="family">Béroud</namePart><affiliation>INSERM U827, Laboratoire de Génétique Moléculaire, Université Montpellier 1, Hôpital Arnaud de Villeneuve, Montpellier, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Burn</namePart><affiliation>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fiona</namePart><namePart type="family">Cunningham</namePart><affiliation>European Bioinformatics Institute (EBI), Hinxton, Cambridge, CB10 1SD, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Garry R.</namePart><namePart type="family">Cutting</namePart><affiliation>Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johan T.</namePart><namePart type="family">den Dunnen</namePart><affiliation>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marc S.</namePart><namePart type="family">Greenblatt</namePart><affiliation>University of Vermont College of Medicine, Burlington, Vermont</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jim</namePart><namePart type="family">Kaput</namePart><affiliation>Division of Personalized Nutrition and Medicine, U.S. FDA National Center for Toxicological Research, Jefferson, Arkansas</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Katz</namePart><affiliation>March of Dimes Foundation, White Plains, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annika</namePart><namePart type="family">Lindblom</namePart><affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Finlay</namePart><namePart type="family">Macrae</namePart><affiliation>Department of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Donna</namePart><namePart type="family">Maglott</namePart><affiliation>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gabriela</namePart><namePart type="family">Möslein</namePart><affiliation>HELIOS St. Josefs‐Hospital, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sue</namePart><namePart type="family">Povey</namePart><affiliation>Division of Life Sciences, UCL, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Raj</namePart><namePart type="family">Ramesar</namePart><affiliation>MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sue</namePart><namePart type="family">Richards</namePart><affiliation>Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniela</namePart><namePart type="family">Seminara</namePart><affiliation>National Cancer Institute, Bethesda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">María‐Jesús</namePart><namePart type="family">Sobrido</namePart><affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sean</namePart><namePart type="family">Tavtigian</namePart><affiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Graham</namePart><namePart type="family">Taylor</namePart><affiliation>St. James's University Hospital, Leeds, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mauno</namePart><namePart type="family">Vihinen</namePart><affiliation>Institute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ingrid</namePart><namePart type="family">Winship</namePart><affiliation>University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard G.H.</namePart><namePart type="family">Cotton</namePart><affiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>on behalf of contributors to the Human Variome Project Meeting</namePart><description>Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, AustraliaDepartment of Genetic Medicine, Faculty of Medicine and Princess Al‐Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi ArabiaProgram in Human Genetics and Hematology, The Rockefeller University, New York, New YorkNature Publishing Group, New York, New YorkBoston University, Department of Philosophy, Genetics, Ethics & Policy Consulting, Boston, MassachusettsDepartment of Surgical Gastroenterology, Hvidovre Hospital, Copenhagen, DenmarkINSERM U827, Laboratoire de Génétique Moléculaire, Université Montpellier 1, Hôpital Arnaud de Villeneuve, Montpellier, FranceInstitute of Human Genetics, Newcastle University, Newcastle upon Tyne, United KingdomEuropean Bioinformatics Institute (EBI), Hinxton, Cambridge, CB10 1SD, United KingdomInstitute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MarylandHuman and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsUniversity of Vermont College of Medicine, Burlington, VermontDivision of Personalized Nutrition and Medicine, U.S. FDA National Center for Toxicological Research, Jefferson, ArkansasMarch of Dimes Foundation, White Plains, New YorkDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, MarylandHELIOS St. Josefs‐Hospital, Bochum, GermanyDivision of Life Sciences, UCL, London, United KingdomMRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South AfricaMolecular and Medical Genetics, Oregon Health & Science University, Portland, OregonNational Cancer Institute, Bethesda, MarylandFundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Center for Biomedical Network Research on Rare Disorders (CIBERER), Institute of Health Carlos III, SpainDepartment of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UtahSt. James's University Hospital, Leeds, United KingdomInstitute of Medical Technology, University of Tampere, and Research Center, Tampere University Hospital, Tampere, FinlandUniversity of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria 3050 AustraliaGenomic Disorders Research Centre, Carlton South, Melbourne, Victoria, Australia</description></name><typeOfResource>text</typeOfResource><genre type="conference" displayLabel="meetingReport" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-BFHXPBJJ-3">conference</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-12</dateIssued><dateCaptured encoding="w3cdtf">2010-09-22</dateCaptured><dateValid encoding="w3cdtf">2010-10-01</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">0</extent><extent unit="tables">0</extent><extent unit="references">7</extent></physicalDescription><abstract lang="en">The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010. 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In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease‐specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. Hum Mutat 71:1374–1381, 2010. © 2010 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>mutation</topic><topic>variation</topic><topic>genomics</topic><topic>genetic disease</topic></subject><relatedItem type="host"><titleInfo><title>Human Mutation</title></titleInfo><titleInfo type="abbreviated"><title>Hum. 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