Our scientific goals revolve around the generation and analysis of genomic data sets from thousands of Australians, and their linkage with clinical and biological information.
The Centre is initiating several flagship scientific projects:
- the development of a new genome reference database, spanning diverse Australian communities, that improves our ability to interpret genetic changes found in Australians affected by genetic disease regardless of their ancestral background;
- the identification of gene-disrupting genetic variants that help to identify and validate new targets for therapeutic drugs;
- contributing to global efforts identifying the genetic contributors to variation in the severity of COVID-19, particularly in non-European populations;
- the development of new genomic and analytical methods for improving the diagnosis of patients affected by rare, severe genetic diseases; and
- the generation of new large-scale genomic data sets from existing Australian biobanks, allowing deep genomic data to be linked with information on health and disease across the human lifespan.
