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

确定个人疾病的突变或遗传原因是提供适当临床护理和治疗的第一步。由于能够以一种既省时又经济的方式对整个人类基因组进行测序，这一诊断过程正在发生革命性的变化。该项目将利用全基因组测序鉴定新的和已知的重复扩增，为神经遗传疾病患者提供快速诊断和更好的临床护理。

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.