Repeat expansions in neurological disease: discovery, interpretation and enhanced diagnostics

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Identifying the mutation or genetic cause of disease in an individual is the first step in the provision of appropriate clinical care and treatment. This diagnostic process is being revolutionised through the ability to sequence the entire human genome in a time and cost effective manner. This project will enable identification of novel and known repeat expansion using whole genome sequencing, providing rapid diagnoses and better clinical care for individuals with neurogenetic disorders.