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Human variome project country nodes: Documenting genetic information within a country

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Author

  • George P. Patrinos
  • Timothy D. Smith
  • Heather Howard
  • Fand Al-Mulla
  • Lotfi Chouchane
  • Andreas Hadjisavvas
  • Sherifa A. Hamed
  • Xi-Tao Li
  • Makia Marafie
  • Rajkumar S. Ramesar
  • Feliciano J. Ramos
  • Thomy de Rave
  • Mona O. El-Ruby
  • Tilak Ram Shrestha
  • Maria-Jess Sobrido
  • Ghazi Tadmouri
  • Martina Witsch-Baumgartner
  • Bin Alwi Zilfali
  • Arleen D. Auerbach
  • Kevin Carpenter
  • Garry R. Cutting
  • Vu Chi Dung
  • Wayne Grody
  • Julia Hasler
  • Lynn Jorde
  • Jim Kaput
  • Milan Macek
  • Yoichi Matsubara
  • Carmancita Padilla
  • Helen Robinson
  • Augusto Rojas-Martinez
  • Graham R. Taylor
  • Mauno Vihinen
  • Tom Weber
  • John Burn
  • Ming Qi
  • Richard G. H. Cotton
  • David Rimoin
Show all

Summary, in English

The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc.

Publishing year

2012

Language

English

Pages

1513-1519

Publication/Series

Human Mutation

Volume

33

Issue

11

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Keywords

  • human variome project
  • country nodes
  • national
  • ethnic mutation
  • databases
  • populations
  • genomic variation
  • genomics

Status

Published

Research group

  • Protein Bioinformatics

ISBN/ISSN/Other

  • ISSN: 1059-7794