Centre for Population Genomics

Large-scale population genomics and data.

We will solve the critical scientific, regulatory, and technical problems currently limiting the development of genomic medicine in Australia. The Centre is a collaboration between the Garvan Institute of Medical Research and the Murdoch Children's Research Institute, designed to build the tools, resources, and expertise required to shape the implementation of population-scale genomic medicine in Australia.

Population genomics involves the generation and analysis of massive-scale data sets of human genetic variation, combined with information on health and clinical outcomes. The next decade will see a transformation of medicine and biology, driven in part by an explosion in our understanding of the connections between human genetic variation and physical traits. This understanding will allow the better prediction and diagnosis of disease and speed up the discovery and validation of new therapeutic targets.

Our vision is that genomic information should be available to enable comprehensive disease prediction, accurate diagnosis, and effective therapeutics for all the diverse peoples of Australia. To make that possible, we work in respectful partnerships with Australian communities to build new genome reference databases that are more representative of this country’s diversity. These databases will improve our ability to interpret genetic changes found in Australians affected by severe genetic diseases, regardless of their ancestral background.

We will develop new methods and computational infrastructure for the storage, processing, analysis, sharing and visualisation of genomic and clinical data from large human cohorts and lead and collaborate on large studies in Australian population genomics.

We hope to contribute to cultural change in Australian human genomics, away from single-state and single-institution models towards a national-level vision, towards more open approaches to data sharing and collaborative science. And we will help train the next generation of Australian experts in genomics, statistical genetics, computational biology, bioinformatics, and data science.

More information

• Centre for Population Strategic Plan 2021 - 20224.67 MB

Our projects

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.

We are starting several flagship scientific projects:

• Development of a new genome reference database, spanning diverse Australian communities, to improve our ability to interpret genetic changes found in Australians affected by genetic disease, regardless of their ancestral background.
• Identification of gene-disrupting genetic variants to help identify and validate new targets for therapeutic drugs.
• Contributing to global efforts to identify the genetic contributors to variation in the severity of COVID-19, particularly in non-European populations.
• Development of new genomic and analytical methods for improving the diagnosis of patients affected by rare, severe genetic diseases.
• Development of new large-scale genomic data sets from existing Australian biobanks to allow deep genomic data to be linked with information on health and disease across the human lifespan.

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