Human mutation · 2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
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Kohonen-Corish Maija R J, Al-Aama Jumana Y, Auerbach Arleen D, Axton Myles, Barash Carol Isaacson, Bernstein Inge, Béroud Christophe, Burn John, Cunningham Fiona, Cutting Garry R, den Dunnen Johan T, Greenblatt Marc S, Kaput Jim, Katz Michael, Lindblom Annika, Macrae Finlay, Maglott Donna, Möslein Gabriela, Povey Sue, Ramesar Raj, Richards Sue, Seminara Daniela, Sobrido María-Jesús, Tavtigian Sean, Taylor Graham, Vihinen Mauno, Winship Ingrid, Cotton Richard G H, Human Variome Project Meeting
Аннотация
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.