Our Projects

OurDNA

Rare Disease Genomics

Australian Functional Genomics Network (AFGN)

(PI: Professor Andrew Sinclair, Murdoch Children’s Research Institute)

Advancing clinical genomics with long-read sequencing

(PI: Dr Ira Deveson, Centre for Population Genomics)

A national large-scale automated reanalysis program

(PI: Professor Zornitza Stark, Murdoch Children’s Research Institute)

Genomic diagnosis and gene discovery in rare disease (GDRD)

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

Population genomics tools

(PI: Professor Heidi Rehm, Broad Institute)

Computational methods development for nanopore sequencing analysis

(PI: Dr Ira Deveson, Centre for Population Genomics)

Advancing vertebrate genomics with long-read sequencing

(PI: Dr Ira Deveson, Centre for Population Genomics)

Glaucoma polygenic risk score

(PI: Co-PIs: Professor Jamie Craig, Professor Stuart MacGregor, Associate Professor Owen Siggs, Professor Alex Hewitt)

Defining early-onset glaucomagenetic etiologies

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

Somatic variation

(PI: Associate Professor Owen Siggs, Centre for Population Genomics)

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)

Co-designing engagement with CALD communities under-represented in genomic research

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

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)

Rare Gene Effect Modulators (rare GEMS)

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

Open Targets loss of function variant curation

(PI: Dr Maya Ghoussaini and Dr Hilary Martin, Wellcome Sanger Institute)

Large-scale genomic analysis of existing cohorts (LGA)

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

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)

Generation Victoria (GenV)

(PI: Professor Melissa Wake, Murdoch Children’s Research Institute)

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)

Our Projects

OurDNA

Rare Disease Genomics

Australian Functional Genomics Network (AFGN)

Advancing clinical genomics with long-read sequencing

A national large-scale automated reanalysis program

Genomic diagnosis and gene discovery in rare disease (GDRD)

Population genomics tools

Other

Computational methods development for nanopore sequencing analysis

Advancing vertebrate genomics with long-read sequencing

Glaucoma polygenic risk score

Defining early-onset glaucomagenetic etiologies

Somatic variation

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

Co-designing engagement with CALD communities under-represented in genomic research

Diversity in genetic services and genomic datasets: survey of clinical geneticists and genetic counsellors working in Australia

Rare Gene Effect Modulators (rare GEMS)

Open Targets loss of function variant curation

Large-scale genomic analysis of existing cohorts (LGA)

The Australian Cancer Risk Study: Genomic risk prediction and risk-tailored screening and early detection for common cancers

Generation Victoria (GenV)

Developing a national long-read sequencing platform for Indigenous Genomics