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)

Emerging technologies for long-read DNA sequencing, such as Oxford Nanopore, promise to improve our understanding of human genomics and diagnosis of genetic disease by resolving challenging, repetitive regions of the genome. To ensure the benefits of that latest advances in genomic technology are shared equitably, we are working to develop a national platform for long-read sequencing among Indigenous Australians, in collaboration with the ANU's National Centre for Indigenous Genomics. Population-scale nanopore sequencing will yield more complete & accurate catalogues of genetic variation in Indigenous communities than currently possible. Interpreted against this backdrop, the improved detection of challenging genetic variation afforded by nanopore sequencing can significantly improve diagnosis of heritable disease in Indigenous families.

The Centre for Population Genomics is a national initiative, jointly housed at the Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. We work all across the country and collaborate with partners internationally and in Australia.

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At CPG, we celebrate and respect diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.

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