How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
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.
Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia. m.corish@garvan.org.au
Maija R J
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Kohonen-Corish
Jumana Y
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Al-Aama
Arleen D
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Auerbach
Myles
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Axton
Carol Isaacson
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Barash
Inge
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Bernstein
Christophe
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Béroud
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Burn
Fiona
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Cunningham
Garry R
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Cutting
Johan T
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den Dunnen
Marc S
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Greenblatt
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Kaput
Michael
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Katz
Annika
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Lindblom
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Macrae
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Gabriela
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Möslein
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Povey
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Ramesar
Sue
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Richards
Daniela
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Seminara
María-Jesús
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Sobrido
Sean
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Tavtigian
Graham
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Taylor
Mauno
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Vihinen
Ingrid
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Winship
Richard G H
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Cotton
D003625:Data Collection; D030541:Databases, Genetic / Q000191:economics; D014644:Genetic Variation / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D009042:Motivation; D009154:Mutation / Q000941:ethics / Q000235:genetics*; D010297:Paris; D057285:Precision Medicine; D012984:Software; D009626:Terminology as Topic; D014480:United Nations