The Experts below are selected from a list of 282 Experts worldwide ranked by ideXlab platform
Helen M. Robinson - One of the best experts on this subject based on the ideXlab platform.
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Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012
Genetics in Medicine, 2013Co-Authors: Maija R.j. Kohonen-corish, Timothy D. Smith, Helen M. RobinsonAbstract:The 4th Biennial Meeting of the Human Variome Project Consortium was held at the headquarters of the United Nations Educational, Scientific and Cultural Organization (UNESCO) in Paris, 11–15 June 2012. The Human Variome Project, a nongovernmental organization and an official partner of UNESCO, enables the routine collection, curation, interpretation, and sharing of information on all human genetic variation. This Meeting was attended by more than 180 delegates from 39 countries and continued the theme of addressing issues of implementation in this unique Project. The Meeting was structured around the four main themes of the Human Variome Project strategic plan, “Project Roadmap 2012–2016”: setting normative function, behaving ethically, sharing knowledge, and building capacity. During the Meeting, the members held extensive discussions to formulate an action plan in the key areas of the Human Variome Project. The actions agreed on were promulgated at the Project’s two Advisory Council and Scientific Advisory Committee postconference Meetings. Genet Med 2013:15(7):507–512
Garry R Cutting - One of the best experts on this subject based on the ideXlab platform.
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how to catch all those mutations the report of the third human variome Project Meeting unesco paris may 2010
Human Mutation, 2010Co-Authors: Maija R J Kohonencorish, Jumana Y Alaama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Beroud, J Burn, Fiona Cunningham, Garry R CuttingAbstract: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.
Maija R.j. Kohonen-corish - One of the best experts on this subject based on the ideXlab platform.
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Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012
Genetics in Medicine, 2013Co-Authors: Maija R.j. Kohonen-corish, Timothy D. Smith, Helen M. RobinsonAbstract:The 4th Biennial Meeting of the Human Variome Project Consortium was held at the headquarters of the United Nations Educational, Scientific and Cultural Organization (UNESCO) in Paris, 11–15 June 2012. The Human Variome Project, a nongovernmental organization and an official partner of UNESCO, enables the routine collection, curation, interpretation, and sharing of information on all human genetic variation. This Meeting was attended by more than 180 delegates from 39 countries and continued the theme of addressing issues of implementation in this unique Project. The Meeting was structured around the four main themes of the Human Variome Project strategic plan, “Project Roadmap 2012–2016”: setting normative function, behaving ethically, sharing knowledge, and building capacity. During the Meeting, the members held extensive discussions to formulate an action plan in the key areas of the Human Variome Project. The actions agreed on were promulgated at the Project’s two Advisory Council and Scientific Advisory Committee postconference Meetings. Genet Med 2013:15(7):507–512
Maija R J Kohonencorish - One of the best experts on this subject based on the ideXlab platform.
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how to catch all those mutations the report of the third human variome Project Meeting unesco paris may 2010
Human Mutation, 2010Co-Authors: Maija R J Kohonencorish, Jumana Y Alaama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Beroud, J Burn, Fiona Cunningham, Garry R CuttingAbstract: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.
Richard G.h. Cotton - One of the best experts on this subject based on the ideXlab platform.
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Recommendations of the 2006 Human Variome Project Meeting
Nature Genetics, 2007Co-Authors: Richard G.h. CottonAbstract:Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization–cosponsored Meeting on June 20–23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This Meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the Project, the Meeting and its recommendations.
