TY - JOUR
T1 - How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010
AU - Kohonen-Corish, Maija R.J.
AU - Al-Aama, Jumana Y.
AU - Auerbach, Arleen D.
AU - Axton, Myles
AU - Barash, Carol Isaacson
AU - Bernstein, Inge
AU - Béroud, Christophe
AU - Burn, John
AU - Cunningham, Fiona
AU - Cutting, Garry R.
AU - Den Dunnen, Johan T.
AU - Greenblatt, Marc S.
AU - Kaput, Jim
AU - Katz, Michael
AU - Lindblom, Annika
AU - Macrae, Finlay
AU - Maglott, Donna
AU - Möslein, Gabriela
AU - Povey, Sue
AU - Ramesar, Raj
AU - Richards, Sue
AU - Seminara, Daniela
AU - Sobrido, María Jesús
AU - Tavtigian, Sean
AU - Taylor, Graham
AU - Vihinen, Mauno
AU - Winship, Ingrid
AU - Cotton, Richard G.H.
PY - 2010/12
Y1 - 2010/12
N2 - 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.
AB - 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.
KW - Genetic disease
KW - Genomics
KW - Mutation
KW - Variation
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U2 - 10.1002/humu.21379
DO - 10.1002/humu.21379
M3 - Article
C2 - 20960468
AN - SCOPUS:78649620668
SN - 1059-7794
VL - 31
SP - 1374
EP - 1381
JO - Human mutation
JF - Human mutation
IS - 12
ER -