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.
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.