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Document Type |
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Article In Journal |
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Document Title |
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How to Catch All Those Mutations—The Report of theThird Human Variome Project Meeting, UNESCO ParisMay 2010 كيفية الكشف عن الطفرات البشرية- الاجتماع الثالث لمشروع الفاريوم البشري |
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Subject |
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HVP |
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Document Language |
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English |
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Abstract |
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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 |
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ISSN |
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21379 |
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Journal Name |
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Human Mutation |
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Volume |
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31 |
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Issue Number |
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12 |
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Publishing Year |
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1431 AH
2010 AD |
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Article Type |
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Article |
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Added Date |
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Saturday, December 18, 2010 |
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Researchers
| مايجا كونين كوريش | Corish, Maija Kohonen | Investigator | Doctorate | m.corish@garvan.org.au |
| جمانة يوسف الأعمى | AL- Aama, Jumana Y | Researcher | Doctorate | jalama@kau.edu.sa |
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