Literature DB >> 22753370

Human Variome Project country nodes: documenting genetic information within a country.

George P Patrinos1, Timothy D Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S Ramesar, Feliciano J Ramos, Thomy de Ravel, Mona O El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, 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.   

Abstract

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.
© 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22753370     DOI: 10.1002/humu.22147

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  6 in total

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2.  Human Variome Project Quality Assessment Criteria for Variation Databases.

Authors:  Mauno Vihinen; John M Hancock; Donna R Maglott; Melissa J Landrum; Gerard C P Schaafsma; Peter Taschner
Journal:  Hum Mutat       Date:  2016-03-21       Impact factor: 4.878

3.  Annotating DNA variants is the next major goal for human genetics.

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Review 5.  Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.

Authors:  Gholson J Lyon; Kai Wang
Journal:  Genome Med       Date:  2012-07-26       Impact factor: 11.117

6.  Non-synonymous variations in cancer and their effects on the human proteome: workflow for NGS data biocuration and proteome-wide analysis of TCGA data.

Authors:  Charles Cole; Konstantinos Krampis; Konstantinos Karagiannis; Jonas S Almeida; William J Faison; Mona Motwani; Quan Wan; Anton Golikov; Yang Pan; Vahan Simonyan; Raja Mazumder
Journal:  BMC Bioinformatics       Date:  2014-01-27       Impact factor: 3.169

  6 in total

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