Study

Exome_sequencing_in_patients_with_Calcific_Aortic_Valve_Stenosis

Study ID Alternative Stable ID Type
EGAS00001000049 Other

Study Description

The objective is to identify new genes involved in calcific aortic valve stenosis (CAVS) by screening the exome of at least 20 patients with familial CAVS. The recruitment of patients with CAVS has been achieved by l’institut du thorax (Nantes, France). DNA from the selected patients has been analysed by exome capture (Agilent SureSelect) and massively parallel sequencing (Illumina). The data generated by this project will lead to the identification of candidate genes involved in CAVS, which can be further screened for mutation in additional patients with CAVS.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000053
Exome sequencing in patients with Calcific Aortic Valve Stenosis
Illumina HiSeq 2000 20

Who archives the data?

There are no publications available