Centre for Population Genomics

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.