How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
Year: 2010
Type: article
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.
Source: Human Mutation
DOI: 10.1002/humu.21379
Authors: 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. Cotton, on behalf of contributors to the Human Variome Project Meeting
Institutions: Garvan Institute of Medical Research, UNSW Sydney, King Abdulaziz University, Rockefeller University, Boston University, Hvidovre Hospital, Inserm, Hôpital Arnaud de Villeneuve, Université Montpellier 1, Newcastle University, European Bioinformatics Institute, Johns Hopkins University, Johns Hopkins Medicine, Leiden University Medical Center, University of Vermont, National Center for Toxicological Research, United States Food and Drug Administration, March of Dimes, Karolinska Institutet, The Royal Melbourne Hospital, The University of Melbourne, International Society for Gastrointestinal Hereditary Tumours, National Center for Biotechnology Information, St. Josef-Hospital, University College London, University of Cape Town, Institute of Infectious Disease and Molecular Medicine, Oregon Health & Science University, National Institutes of Health, National Cancer Institute, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Fundación Pública Galega de Medicina Xenómica, University of Utah, Huntsman Cancer Institute, St James's University Hospital, Tampere University Hospital, University of Tampere
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $2,740
Award: G3777803959
OpenAlex ID: W2170354906