Researchers interested in the therapy of inherited disease and the functioning of the proteins/enzymes altered by mutations will be able to use the Human Variome Project Australian Node to model genotype/phenotype relationships. The Node provides access to complete information on all mutations in all genes which creates the opportunity for classes of research not available until now, due to the limitations of peer reviewed published data, its inaccuracy and its incomplete submission into public databases.
Access to the Australian Node dataset for research use will be available through BioGrid in the coming months. This page will be updated when this occurs.
