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Suggested actions from the Melbourne HVP Information Seminar Nature Precedings
Richard Cotton; Myles Axton; Agnes Bankier; Bernard Brais; Lawrence Cavedon; Desirée du Sart; Peter George; David Goldgar; Terence Harrison; Marienne Hibbert; John Hopper; Finlay Macrae; Christine M. O’Keefe; David Ravine; Ravi Savarirayan; Les Sheffield; Tim Smith; Nicola Stokes; Vijaya Sundararajan; David Thorburn; Ingrid Winship.
The Human Variome Project (HVP; www.humanvariomeproject.org) was initiated at a meeting in June 2006 and addressed the problems of collecting genetic information and generated 96 recommendations (http://www.nature.com/ng/journal/v39/n4/full/ng0407-423.html) to overcome these, with the focus on Mendelian disease. A considerable number of projects have been added, to those that have been ongoing for a number of years, since that meeting. Also, a planning meeting is to be held May 25-29, 2008 in Spain (http://www.humanvariomeproject.org/HVP2008/).

A dramatic boost has been given to the HVP by the preparedness and action of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT; www.insight-group.org), to,...
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Bioinformatics.
Ano: 2008 URL: http://precedings.nature.com/documents/1784/version/1
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The Human Variome Project – Pilot project and progress Nature Precedings
Richard Cotton.
Cotton R.G.H. and Collaborators

Convenor, Human Variome Project; Head, Genomic Disorders Research Centre, Howard Florey Institute; Department of Medicine, the University of Melbourne, Melbourne, Australia

The Human Variome Project (Cotton et al 2007) ("www.humanvariomeproject.org":http://www.humanvariomeproject.org) was initiated in June 2006 (Ring H.Z. et al. 2006) drawing attention to the importance of collection of variation and its phenotype and to develop programs to put this into effect.

The project builds on work and concepts of the HGVS and others over many years ("www.hgvs.org":http://www.hgvs.org) to focus...
Tipo: Presentation Palavras-chave: Genetics & Genomics.
Ano: 2010 URL: http://precedings.nature.com/documents/5208/version/1
Imagem não selecionada

Imprime registro no formato completo
Suggested actions from the Melbourne HVP Information Seminar Nature Precedings
Richard Cotton; Myles Axton; Agnes Bankier; Bernard Brais; Lawrence Cavedon; Desirée du Sart; Peter George; David Goldgar; Terence Harrison; Marienne Hibbert; John Hopper; Finlay Macrae; Christine M. O’Keefe; David Ravine; Ravi Savarirayan; Les Sheffield; Tim Smith; Nicola Stokes; Vijaya Sundararajan; David Thorburn; Ingrid Winship.
The Human Variome Project (HVP; www.humanvariomeproject.org) was initiated at a meeting in June 2006 and addressed the problems of collecting genetic information and generated 96 recommendations (http://www.nature.com/ng/journal/v39/n4/full/ng0407-423.html) to overcome these, with the focus on Mendelian disease. A considerable number of projects have been added, to those that have been ongoing for a number of years, since that meeting. Also, a planning meeting is to be held May 25-29, 2008 in Spain (http://www.humanvariomeproject.org/HVP2008/).

A dramatic boost has been given to the HVP by the preparedness and action of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT; www.insight-group.org), to,...
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Bioinformatics.
Ano: 2008 URL: http://precedings.nature.com/documents/1784/version/2
Registros recuperados: 3
Primeira ... 1 ... Última
 

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