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​.  

​​​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.