Suggested actions from the Melbourne HVP Information Seminar

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.