Identification of novel disease genes utilizing next generation sequencer

点击翻译按钮获取中文摘要

Our aim is to identify the novel disease genes responsible for the congenital diseases. Based on the genetic evidence, we intend to clarify the whole picture of the etiology and contribute to develop the diagnostic tools, prevention and treatment. In this project, utilizing the emerging technology of next generation sequencer, we successfully identified total number of eight novel responsible genes for Coffin-Siris syndrome, Mitochondrial complex III deficiency and autosomal recessive brachyolmia.