The collection of mutations in all genes from all countries for all to use may appear ambitious. In fact collection has been happening for some time on a small, disconnected and non-public way. However, that data is not being systematically collected and made available for use of clinicians and diagnosticians around the world to assist in their clinics and in research. Additionally, in three studies variation reports in the published literature have been found to be in error 5, 10 and 43% of the time. Considerable interest, activity and support for the collection and curation of this data and making it available has been generated by the initiation of this activity under the banner of the Human Variome Project (Editorial: Nat Genet 39(4): 423). The project is supported by world leaders in human genetics from over 25 countries.

The Human Variome Project is conducting work in the following areas:

• Ethics
• Education
• Data Collection From Clinics
• Data Collection from Laboratories
• Data Transfer & Databasing (Gene Specific/LSDB)
• Overall Data Integration and Access
• Assessment of Pathogenicity
• Publication, Credit and Incentives
• Developing and Emerging Countries and Worldwide collection
• Funding Mechanisms and Governance
• Nomenclature and Standards
• Human Genome Variation and Common Diseases
• Translation to Healthcare
• Pilot Projects