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

In English

Författare

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

Summary, in English

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.

Publiceringsår

2010

Språk

Engelska

Sidor

1374-1381

Publikation/Tidskrift/Serie

Human Mutation

Volym

31

Issue

12

Dokumenttyp

Artikel i tidskrift

Förlag

John Wiley & Sons Inc.

Ämne

  • Medical Genetics

Nyckelord

  • Genome
  • Genetic: economics
  • Databases
  • Genetic Variation: genetics
  • Human: genetics
  • Mutation: ethics
  • Mutation: genetics

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1059-7794