Human WGS sequence approach to investigate individual disease. Homo sapiens strain:CMT-001

Individual with diagnosed Charcot-Marie-Tooth disease. First example of a whole genome sequence used to solve the molecular basis for an individual's genetic disease.

本数据集涵盖一名确诊夏科-马里-图斯病（Charcot-Marie-Tooth disease）的患者，其全基因组序列（whole genome sequence）是首个用于阐明个体遗传性疾病分子致病基础的案例。