Centre for Population Genomics

Our Projects

Australian Functional Genomics Network (AFGN)

(PI: Professor Andrew Sinclair, Murdoch Children’s Research Institute)
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Advancing clinical genomics with long-read sequencing

(PI: Dr Ira Deveson, Centre for Population Genomics)
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A national large-scale automated reanalysis program

(PI: Professor Zornitza Stark, Murdoch Children’s Research Institute)
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Genomic diagnosis and gene discovery in rare disease (GDRD)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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Population genomics tools

(PI: Professor Heidi Rehm, Broad Institute)
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Computational methods development for nanopore sequencing analysis

(PI: Dr Ira Deveson, Centre for Population Genomics)
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Advancing vertebrate genomics with long-read sequencing

(PI: Dr Ira Deveson, Centre for Population Genomics)
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Glaucoma polygenic risk score

(PI: Co-PIs: Professor Jamie Craig, Professor Stuart MacGregor, Associate Professor Owen Siggs, Professor Alex Hewitt)
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Defining early-onset glaucomagenetic etiologies

(PI: Professor Janey Wiggs, Massachusetts Eye and Ear, Harvard Medical School)
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Somatic variation

(PI: Associate Professor Owen Siggs, Centre for Population Genomics)
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Development of culturally-aligned and language-appropriate participant information and education resources for Australian ethnic minority ancestry groups under-represented in clinical and population genomics research

(PI: Professor Daniel MacArthur, Centre for Population Genomics & Mary-Anne Young, Garvan Institute of Medical Research)
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Co-designing engagement with CALD communities under-represented in genomic research

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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Diversity in genetic services and genomic datasets: survey of clinical geneticists and genetic counsellors working in Australia

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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Rare Gene Effect Modulators (rare GEMS)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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Open Targets loss of function variant curation

(PI: Dr Maya Ghoussaini and Dr Hilary Martin, Wellcome Sanger Institute)
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Large-scale genomic analysis of existing cohorts (LGA)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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The Australian Cancer Risk Study: Genomic risk prediction and risk-tailored screening and early detection for common cancers

(PI: Professor Anne Cust & Dr Julia Steinberg, The Daffodil Centre, The University of Sydney and Cancer Council NSW)
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Generation Victoria (GenV)

(PI: Professor Melissa Wake, Murdoch Children’s Research Institute)
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Developing a national long-read sequencing platform for Indigenous Genomics

(PI: Dr Ira Deveson, Centre for Population Genomics & Dr Hardip Patel, National Centre for Indigenous Genomics, Australian National University)
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