This project space will be used to store and process whole genome sequence, transcriptome sequence and capture Hi-C sequence of 16 human aortic endothelial cell tissues. The sixteen individuals have undergone open heart surgery at Karolinska Hospital and eight of them have a congenital heart valve defect, namely bicuspid aortic valve (BAV), whereas the other eight has no valve defect. The genetic cause of BAV syndrome is not yet known and the aim of this project is to discover genetic mutations that are responsible for BAV syndrome. We already produced preliminary data to show that rare enhancer variants play a causative role in BAV pathology. This study is carried out to make a catalogue of pathogenic genes through mutations in their enhancers.