Project Members:

Heather Howard (Project Manager, )

ANDS Contact:

Andrew Treloar (

Project Status:


Software and Data Support for the Australian Node of the Human Variome Project

University of Melbourne

Project Description:

The collection of faults (mutations) in genes causing inherited disease and making this data available is essential for genetic health care and research in all areas of human disease. Collection of such data has been occurring for decades in approximately 10% of the 20,000 human genes, but in a manner that is incomplete and inconsistent around the globe. These collections have been compiled on either a gene by gene basis by experts into so called locus specific databases (LSDBs) (see list of LSDBs at, or into large aggregated collections across all genes, e.g. OMIM
( and HGMD ( However, the presence of clinical
information in these databases is often non-existent, due in large part to differences in privacy legislation across different countries. Furthermore, OMIM does not collect all possible mutations deliberately, and HGMD, whilst it is more comprehensive, is commercial and relies solely upon published data.

Diagnostic laboratories on the other hand, which usually continue on screening specific genes well after the first number of publications on patient cohorts, have a wealth of data with linked clinical information that is not in the public domain. The Human Variome Project was initiated to ensure collection of all mutations and associated clinical data in all genes worldwide and to ensure free and open access to this important data to assist in interpreting the clinical significance of these mutations in patients.

To further the aims of the Human Variome Project two HVP pilot projects have been developed:
a) The initiation of country specific collection in individual countries. This HVP Pilot seeks to establish systems to systematically collect every mutation that is characterised by a diagnostic laboratory, clinic or research institution in an individual country. To date, this HVP Pilot includes activities in the Arab world, Kuwait, Korea, Argentina and Australia. Such initiatives will ensure complete collection of mutations and their effect worldwide. It is intended that the information from these individual databases will be shared globally through systems put in place by the Human Variome

b) The international inherited colon cancer consortium (, noting their need in treating and advising patients and at risk family members, have in collaboration with the HVP initiated an HVP Pilot to collect all data worldwide on their four genes of interest. This will be a model for the collection of mutations in all genes worldwide.

To create a data repository called the Australian Human Variome Database to provide access to information on all genetic variants characterised by Australian laboratories and clinics in a single location. Additionally, to provide a service that streamlines the reporting of genetic variants from Australian diagnostic laboratories and integrates these reports with appropriate clinical data, to facilitate the flow of data into the Australian Human Variome Database. Together, these two services will comprise the Australian Node of the Human Variome Project, the ultimate goal of which, although it is beyond the scope of this NeAT project, is to create linkages between similar nodes in all countries and will act as a pilot system for other countries.