Exome sequencing of Congenital Heart Disease families Toronto

ABSTRACT: Atrio-ventricular septal defects (AVSD) are a specific form of congenital heart structural defect that result from abnormal or inadequate fusion of endocardial cushions during cardiac development. This project is focused on identifying rare coding variation that substantially increases risk of AVSD, by exome sequencing of AVSD patients and some of their family members, and comparing to control datasets from other sources.

PROVIDER: EGAS00001000317 | EGA |

REPOSITORIES: EGA