Advancing clinical genomics with long-read sequencing

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

Emerging technologies for long-read DNA sequencing, such as Oxford Nanopore, promise to improve diagnosis of genetic disease by resolving challenging, repetitive regions of the genome that are intractable with established short-read technologies. We are working to develop novel tests that harness long-read sequencing to deliver fast and accurate genetic diagnoses for challenging disorders including repeat expansion disorders (e.g. Huntington's disease, Thalassemia, Facioscapulohumeral Muscular Dystrophy (FSHD) and more.

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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