The Human Variome Project

18 April 2007

Research on variation in the human genome and its clinical consequences has spawned a bewildering number and variety of databases, including the Human Gene Mutation Database (HGMD), dbSNP and TSC (databases of single nucleotide polymorphisms), the HapMap database, and OMIM (On-line Mendelian Inheritance in Man). In addition, there are many disease-based databases that catalogue variants associated with specific diseases, and some databases containing information on disease-associated variation in specific racial or ethnic groups. However, none of these databases is complete, data are often fragmentary and dispersed among different research groups around the world, and in some cases public access may be restricted or delayed because the database is commercially funded.

Recognising a need for greater coordination, standardisation and accessibility, representatives from several key organisations including the World Health Organisation, the US National Human Genome Research Institute, the UK’s Wellcome Trust Human Genome Campus, the European Bioinformatics Institute, UNESCO and leading universities met in Australia last year to launch the Human Variome Project. A commentary outlining the objectives and outcomes of this meeting is available in this month's edition of Nature [Cotton RG (2007) Nat Genet. 39(4):433-6]. The meeting formulated 96 recommendations on how to achieve ‘efficient, complete collection and accurate curation’ of variations in the canonical human DNA sequence, with an emphasis on the relationship between this variation and disease or other phenotypes.

Key tasks for the Human Variome Project include capturing and archiving all disease-associated human gene variation in a central gene-specific database; providing a standardised system of gene variation nomenclature; developing common software to enable exchange of data among a federation of gene-specific, country (population)-specific and disease-specific databases; encouraging participation by clinical diagnostic laboratories; devising ways for clinicians to use the database as a source of information on health outcomes associated with genetic variation; maintaining open access; supporting the involvement of countries from the developing world; and establishing a programme of communication and education.

Potential sources of funding for the Human Variome Project have been identified among key government, commercial and charitable sector organisations but the necessary grants have yet to be secured. As with all ambitious initiatives, securing stable funding will be vital if the project is to succeed. The Genomic Disorders Research Centre in Melbourne, Australia has been designated as the Human Variome Project’s coordinating office, and a website has been established at

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