Centre for Population Genomics

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.