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

Overview

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.

authors

  • Kohonen-Corish, Maija R J
  • Al-Aama, Jumana Y
  • Auerbach, Arleen
  • Axton, Myles
  • Barash, Carol Isaacson
  • Bernstein, Inge
  • Béroud, Christophe
  • Burn, John
  • Cunningham, Fiona
  • Cutting, Garry R
  • den Dunnen, Johan T
  • Greenblatt, Marc S
  • Kaput, Jim
  • Katz, Michael
  • Lindblom, Annika
  • Macrae, Finlay
  • Maglott, Donna
  • Möslein, Gabriela
  • Povey, Sue
  • Ramesar, Raj
  • Richards, Sue
  • Seminara, Daniela
  • Sobrido, María-Jesús
  • Tavtigian, Sean
  • Taylor, Graham
  • Vihinen, Mauno
  • Winship, Ingrid
  • Cotton, Richard G H

publication date

  • December 1, 2010

Research

keywords

  • Genetic Variation
  • Genome, Human
  • Mutation

Identity

PubMed Central ID

  • PMC3119486

Scopus Document Identifier

  • 78649620668

Digital Object Identifier (DOI)

  • 10.1002/humu.21379

PubMed ID

  • 20960468

Additional Document Info

volume

  • 31

issue

  • 12