Human Variome Project: progress and plans.

Abstract

Background The Human Variome Project (HVP) [101] was officially launched in Melbourne, Australia in June 2006 [1] and was devised to collect and curate all genetic variation, its phenotype and associated disease(s). The project’s data are to be made accessible to researchers, diagnosticians, clinicians and all those involved in healthcare. Lack of complete, correctly curated information can lead to misdiagnosis and waste of valuable healthcare funds. This project was suggested as an activity that would focus the complete collection and curation of mutations and their phenotypes in an attempt to coordinate current activities. Work in this field had begun more than a decade ago with the Human Genome Variation Society (HGVS) promoting the collection and display of variants, and whose members have already produced recommendations and software. Their efforts can be seen at the HGVS website [102] and a list of 683 geneor locus-specific databases, most encouraged by the HGVS, can be found at the HGVS Locus Specific Mutation Databases [103]. By naming the project, it was hoped the HVP would attract major funding bodies and that they would get involved at the international level and, in general, improve the funding prospects of this and related projects. At the launch of the project, 96 recommendations were established [2] and will be implemented in the future. As the HVP aims to collect, at least initially, all human variation causing human disease and its specific effects in all 20,000 genes from all countries, thousands or even more people will need to be involved in a coordinated manner with specially developed tools and protocols. This project is needed so that other projects aiming to sequence 1000 individuals or companies aiming to sequence individuals for disease prediction can draw useful conclusions from the data.