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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 10-14 May 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 Personalised 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 mutation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium. (c) 2010 Wiley-Liss, Inc.

Type Journal
ISBN 1098-1004 (Electronic) 1059-7794 (Linking)
Authors Kohonen-Corish, M. R.; Al-Aama, J. Y.; Auerbach, A. D.; Axton, M.; Barash, C. I.; Bernstein, I.; Beroud, C.; Burn, J.; Cunningham, F.; Cutting, G. R.; den Dunnen, J. T.; Greenblatt, M. S.; Kaput, J.; Katz, M.; Lindblom, A.; Macrae, F.; Maglott, D.; Moslein, G.; Povey, S.; Ramesar, R.; Richards, S.; Seminara, D.; Sobrido, M. J.; Tavtigian, S.; Taylor, G.; Vihinen, M.; Winship, I.; Cotton, R. G.:
Responsible Garvan Author A/Prof Maija Kohonen-Corish
Published Date 2010-12-01
Published Volume 31
Published Issue 12
Published Pages 1374-1381
Status Published in-print
DOI 10.1002/humu.21379
URL link to publisher's version
OpenAccess link to author's accepted manuscript version