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Suggested actions from the Melbourne HVP Information Seminar

Richard Cotton¹, Myles Axton², Agnes Bankier³, Bernard Brais⁴, Lawrence Cavedon⁵, Desirée du Sart⁶, Peter George⁷, David Goldgar⁸, Terence Harrison⁹, Marienne Hibbert¹⁰, John Hopper¹¹, Finlay Macrae¹², Christine M. O’Keefe¹³, David Ravine¹⁴, Ravi Savarirayan¹⁵, Les Sheffield¹⁶, Tim Smith¹⁷, Nicola Stokes⁵, Vijaya Sundararajan¹⁸, David Thorburn¹⁹ & Ingrid Winship²⁰

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1. Genomic Disorders Research Centre and Department of Medicine, The University of Melbourne
2. Nature Genetics
3. Genetic Health Services Victoria and VCGS Pathology,
4. Department of Medicine, Faculty of Medicine, Université de Montréal, Centre de recherche du CHUM, Hôpital Notre-Dame-CHUM
5. NICTA, Victoria Research Laboratory, The University of Melbourne
6. Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
7. Canterbury Health Laboratories, Christchurch School of Medicine
8. Department of Dermatology, University of Utah Medical School
9. Health Sciences Library incorporating, The Victorian Mental Health Library, Royal Melbourne Hospital
10. BioGrid Australia (formerly Bio21:MMIM ), Melbourne Health, VPAC and University of Melbourne
11. Centre for M.E.G.A. Epidemiology, School of Population Health, The University of Melbourne
12. Department Head, Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital,
13. Health Data and Information, CSIRO Preventative Health National Research Flagship
14. Laboratory for Molecular Genetics, Royal Perth Hospital, University of Western Australia and Genetics Unit, Lab. Medicine Division, Royal Perth Hospital
15. Royal Children's Hospital Clinical Genetics Service and Group Leader, Skeletal Dysplasia Clinical Research Group and Director, Southern Cross Bone Dysplasia Centre, Genetic Health Services Victoria
16. Genetic Health Services Victoria, Head Pharmacogenomics Unit, Murdoch Childrens Research Institute
17. Genomic Disorders Research Centre
18. Funding Health Information Policy, Metropolitan Health and Aged Care Services, Victorian Department of Human Services
19. Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, The University of Melbourne
20. The University of Melbourne and Royal Melbourne Hospital

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Document Type:

Manuscript

Date:

Received 11 April 2008 06:18 UTC; Posted 11 April 2008

Subjects:

Genetics & Genomics, Bioinformatics

Tags:

• Human Variome Project
• HVP
• mutation
• detection
• databases
• disease

Abstract:

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, in order to improve their own informatics systems for dealing with inherited colon cancer, set up a pilot system for collection and databasing mutation and phenotype information, i.e. to act as pilot for the HVP. This is then intended to be transferred to other genes and countries. Much relevant activity in this project is being led from and is based in Melbourne.

This meeting in Melbourne has been conceived to review the current local situation and plans for the future. We are privileged that Myles Axton, Editor of Nature Genetics, a strong supporter of the HVP (see April 2007 Nature Genetics Editorial) and who has some ideas in the area (see August 2007 Nature Genetics Editorial) agreed to be keynote speaker.

We proposed that the output of this meeting be published and, with permission, the abstracts and presentations placed on the website (www.humanvariomeproject.org/?p=Melbourne_Meeting). We also hope it will inform the May HVP Planning Meeting.

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This document is licensed to the public under the Creative Commons Attribution 3.0 License

How to cite this document:

Cotton, Richard, Axton, Myles, Bankier, Agnes, Brais, Bernard, Cavedon, Lawrence, du Sart, Desirée, George, Peter, Goldgar, David, Harrison, Terence, Hibbert, Marienne, Hopper, John, Macrae, Finlay, O’Keefe, Christine, Ravine, David, Savarirayan, Ravi, Sheffield, Les, Smith, Tim, Stokes, Nicola, Sundararajan, Vijaya, Thorburn, David, and Winship, Ingrid. Suggested actions from the Melbourne HVP Information Seminar. Available from Nature Precedings <http://dx.doi.org/10.1038/npre.2008.1784.2> (2008)

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Version number	Document title	Date
v1	Posted 09 April 2008

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