Nat Rev Neurol. 2010 Aug;6(8):424-5. doi: 10.1038/nrneurol.2010.108.
For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot-Marie-Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.
首次成功地在全基因组水平进行医学测序，以鉴定常染色体隐性遗传性腓骨肌萎缩症个体中的致病基因。对该疾病先证者进行测序的结果突出了这种看似终极的人类遗传学研究和诊断方法的一些机遇和挑战。
