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Centre for Population Genomics

Large-scale population genomics and data.

The Centre for Population Genomics will solve the critical scientific, regulatory, and technical problems currently limiting the development of genomic medicine in Australia, and execute large-scale projects that will establish Australia’s leadership in the field.

The Centre is a collaboration between Garvan and the Murdoch Children’s Research Institute..

About the Centre

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 accelerate the discovery and validation of new therapeutic targets.

The Centre for Population Genomics is a collaboration between the Garvan Institute and the Murdoch Children’s Research Institute (MCRI) in Melbourne, designed to build the tools, resources, and expertise required to shape the implementation of population-scale genomic medicine in Australia.

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 will work via 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, and sharing and visualisation of genomic and clinical data from large human cohorts. We will 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, and 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.

The Centre's web pages are under development. Read our 2021-22 Strategy here.

For more information contact:



Dr Daniel MacArthur previously served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard, and headed up a team jointly based at the Broad Institute, Massachusetts General Hospital, and Harvard Medical School. 

He co-directed the Broad Institute's Centre for Mendelian Genomics, which has sequenced and analysed genomic data from over 10,000 individuals from rare disease families and contributed to the discovery of more than 100 new rare disease genes. 

He also led the development of the Genome Aggregation Database (gnomAD), the largest and most widely-used data set of human exome and genome sequence data, which has collated data from over 140,000 sequenced individuals.

We're recruiting

The Centre is actively recruiting staff across a range of areas. To adapt to the impact of COVID-19, we have launched under a completely remote model – all staff can begin their employment working from home, without needing to relocate to Sydney or Melbourne.

Current open positions include:

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.

These recent papers highlight the world-leading work of Dr Daniel MacArthur. The Centre will build on these resources to extend the advantages of genomic medicine to all Australians.
gnomAD package

  • The mutational constraint spectrum quantified from variation in 141,456 humans 
  • Transcript expression-aware annotation improves rare variant discovery and interpretation 
  • Evaluating potential drug targets through human loss-of-function genetic variation 
  • The effect of LRRK2 loss-of-function variants in humans 
  • An open resource of structural variation for medical and population genetics 
  • Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes 
  • Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals.

Other selected work

  • Landscape of X chromosome inactivation across human tissues
  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
  • Analysis of protein-coding genetic variation in 60,706 humans
  • Quantifying prion disease penetrance using large population control cohorts
  • Effect of predicted protein-truncating genetic variants on the human transcriptome
  • Guidelines for investigating causality of sequence variants in human disease.