Defining the Genomic Basis of Mitochondrial Complex I Deficiency

人类基因组计划带来的新技术将彻底改变基因检测。以前，我们只能一次测序一个基因。下一代测序允许同时分析数百或数千个基因。我们将分析100名患有严重线粒体能量生成障碍的儿童的90个基因。这将为将该技术引入常规医学检测提供原则证明，并确定导致这些疾病的新基因。

The human genome project led to new technologies that will revolutionise genetic testing. Previously, we could only sequence genes one at a time. Next Generation sequencing allows analysis of hundreds or thousands of genes simultaneously. We will analyse 90 genes in 100 children with severe disorders of mitochondrial energy generation. This will provide proof of principle for the introduction of this technology into routine medical testing and identify new genes causing these diseases.