How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010 - Aix-Marseille Université Access content directly
Journal Articles Human Mutation Year : 2010

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

Maija Kohonen-Corish
  • Function : Author
Jumana y Al-Aama
  • Function : Author
Arleen D Auerbach
  • Function : Author
Myles Axton
  • Function : Author
Carol Isaacson Barash
  • Function : Author
John Burn
  • Function : Author
Marc S Greenblatt
  • Function : Author
  • PersonId : 900167
Michael Katz
  • Function : Author
Donna Maglott
  • Function : Author
  • PersonId : 919981
Gabriela Möslein
  • Function : Author
Raj Ramesar
  • Function : Author
Sue Richards
  • Function : Author
Sean Tavtigian
  • Function : Author
  • PersonId : 918640
Mauno Vihinen
  • Function : Author
  • PersonId : 933294
Ingrid Winship
  • Function : Author
Richard G H Cotton
  • Function : Author
Human Variome Project Meeting
  • Function : Author

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.

Dates and versions

hal-01681821 , version 1 (11-01-2018)

Identifiers

Cite

Maija Kohonen-Corish, Jumana y Al-Aama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, et al.. How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation, 2010, 31 (12), pp.1374 - 1381. ⟨10.1002/humu.21379⟩. ⟨hal-01681821⟩
76 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More