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Centre for Population Genomics

Creating a future where all Australians benefit from genomic medicine.

The vision of CPG is a world in which genomic information enables comprehensive disease risk prediction, accurate diagnosis and effective therapeutics for all people. 

The next decade will see a transformation of medicine and biology, driven in part by significant advancements in our understanding of the connections between human genetic variation and physical traits. This understanding will allow us to better predict and diagnose disease, and accelerate the discovery and validation of new therapeutic targets.​ However, current genomic resources are missing many Australian communities, raising the risk that advances in genomic medicine could widen health discrepancies between groups with different ancestry.​ 

The Centre for Population Genomics is a collaboration between the Garvan Institute and the Murdoch Children’s Research Institute (MCRI) in Melbourne. Together, we are building the tools, resources and expertise required to implement population-scale genomic medicine in Australia​, and to ensure that the health benefits of genomic technologies can bring benefits to all Australians, regardless of their ancestry​. 

To learn more about our research activities, visit​ the ​Centre for Population Genomics

The Centre for Population Genomics establish​es​ respectful partnerships with diverse ​Australian ​communities, ​works with those communities to ​collect and analyse genomic data at transformative scale and ​uses this data to ​drive ​both novel ​genomic discovery and ​the development of ​equitable genomic medicine. 

​​Our flagship program, OurDNA, ​​​​​​will involve working with multiple under-represented Australian communities to build a large-scale genomic resource ​that ​is​ more representative of this country’s diversity. ​This resource​ will improve our ability to interpret genetic changes found in Australians affected by severe genetic diseases, regardless of their ancestral background​, and establishes the foundation for larger-scale studies that will help ensure that all Australian communities benefit from future advances in the prediction and treatment of disease​. 

​​​The Centre also drives a national network leveraging cutting-edge genomic approaches to improve the diagnosis of patients affected by rare genetic disorders, and contributes to large-scale projects combining whole-genome sequencing and single cell RNA sequencing to understand blood cell biology and to guide the development of new therapeutics. Our projects are underpinned by a set of foundational platforms, including a cloud-based approach to genomic data management and analysis that allows us to tackle the largest genomic data sets ever assembled in Australia.​​​​ 

We aim to contribute to cultural change in Australian human genomics, transitioning from single-state and single-institution models to a national-level vision, and towards more open approaches to data sharing and collaborative science. To continue this legacy, we will train the next generation of Australian experts in genomics, statistical genetics, computational biology, bioinformatics and data science, to support a healthier population for decades to come. 

The Centre for Population Genomics will advance genomic medicine by establishing a critical mass of expertise in ​population​-scale genomics, developing population genomics tools and resources, and carrying out transformative scientific projects in three key areas​.  

Key research areas

1​​Genetic diversity

Increasing ​the ​inclusion of under-represented communities in genomic research​

2Rare disease

Leveraging novel genomic and analysis methods at scale to improve ​the ​diagnosis​ of severe genetic disorders​​

3Gene function

Using naturally occurring genetic variation to explore the function of human genes​.​​

​​​Centre for Population Genomics staff are affiliated with both the Garvan Institute and the Murdoch Children’s Research Institute. We are a geographically distributed team, with staff based in Sydney, Melbourne and New Zealand. ​​ 

These papers highlight the world-leading work of Centre Director, Dr Daniel MacArthur. The Centre is building on these resources to extend the advantages of genomic medicine to all Australians.  An updated list of recent publications will be included here soon.

In the meantime, see Daniel MacArthur's recent publications by visiting PubMed and Google Scholar.

Selected publications

See all publications
  • 2022
    Human Mutation10.1002/humu.24366

    seqr: A web-based analysis and collaboration tool for rare disease genomics.

    Lynn S Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R Chao, Gabrielle Lemire, Ikeoluwa Osei-Owusu, Grace E VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A Austin-Tse, Heidi L Rehm, Daniel G MacArthur, Anne O'Donnell-Luria
  • 2021
    Human Mutation10.1002/humu.24309

    Variant interpretation using population databases: Lessons from gnomAD.

    Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, William Phu, Julia K Goodrich, Matthew Solomonson, , Heidi L Rehm, Daniel G MacArthur, Anne O'Donnell-Luria
  • 2021
    Science (New York, N.Y.)10.1126/science.abi8207

    From variant to function in human disease genetics.

    Tuuli Lappalainen, Daniel G MacArthur
  • 2020
    Nature10.1038/s41586-020-2308-7

    The mutational constraint spectrum quantified from variation in 141,456 humans.

    Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M England, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, , Benjamin M Neale, Mark J Daly, Daniel G MacArthur
  • 2020
    Nature10.1038/s41586-020-2267-z

    Evaluating drug targets through human loss-of-function genetic variation.

    Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C Trembath, David A van Heel, Mark J Daly, , , Stuart L Schreiber, Daniel G MacArthur