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How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

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 and Cutting, Garry R , et al. (2010) In Human Mutation 31(12). p.1374-1381
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... (More)
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. (Less)
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publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genome, Genetic: economics, Databases, Genetic Variation: genetics, Human: genetics, Mutation: ethics, Mutation: genetics
in
Human Mutation
volume
31
issue
12
pages
1374 - 1381
publisher
John Wiley and Sons Inc.
external identifiers
  • pmid:20960468
  • scopus:78649620668
ISSN
1059-7794
DOI
10.1002/humu.21379
language
English
LU publication?
no
id
5e5d3c63-c9c0-440a-a4cb-1f5e930d4175 (old id 3634680)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20960468?dopt=Abstract
date added to LUP
2016-04-04 08:22:12
date last changed
2020-02-28 14:56:18
@article{5e5d3c63-c9c0-440a-a4cb-1f5e930d4175,
  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.},
  author       = {Kohonen-Corish, Maija R J and Al-Aama, Jumana Y and Auerbach, Arleen D and Axton, Myles and Barash, Carol Isaacson and Bernstein, Inge and Béroud, Christophe and Burn, John and Cunningham, Fiona and Cutting, Garry R and den Dunnen, Johan T and Greenblatt, Marc S and Kaput, Jim and Katz, Michael and Lindblom, Annika and Macrae, Finlay and Maglott, Donna and Möslein, Gabriela and Povey, Sue and Ramesar, Raj and Richards, Sue and Seminara, Daniela and Sobrido, María-Jesús and Tavtigian, Sean and Taylor, Graham and Vihinen, Mauno and Winship, Ingrid and Cotton, Richard G H},
  issn         = {1059-7794},
  language     = {eng},
  number       = {12},
  pages        = {1374--1381},
  publisher    = {John Wiley and Sons Inc.},
  series       = {Human Mutation},
  title        = {How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.},
  url          = {http://dx.doi.org/10.1002/humu.21379},
  doi          = {10.1002/humu.21379},
  volume       = {31},
  year         = {2010},
}