Whole exome sequencing of idiopathic pulmonary arterial hypertension

In the patients with idiopathic pulmonary arterial hypertension (IPAH), the detection rate of the BMPR2 mutation is only about 10% to 20% and the novel pathogenic gene has hard to found. Due to the lack of suitable research strategies, the research of the pathogenic gene related to IPAH is progressing slowly by WES. Therefore, we tried to explain the pathological causes of IPAH by WES and look forward to discover some novel genetic factors related to the pathogenesis of IPAH. In order to obtain more comprehensive variants for the excavation of the pathological mechanism associated with IPAH and provide more useful reference information for the follow-up disease early diagnosis and precise treatment of the IPAH, we want to research the pathogenic factors of IPAH with the using of WES.