Exome_sequencing_of_Congenital_Heart_Disease_families_Toronto

Study

Exome sequencing of Congenital Heart Disease families Toronto

Study ID	Alternative Stable ID	Type
EGAS00001000317		Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID	Description	Technology	Samples
EGAD00001000799	The exome sequencing is performed using Agilent SureSelect 50Mb exome v3 and Hiseq 75bp paired reads with an mean sequencing coverage target of 50X. The exome sequencing is performed using Agilent SureSelect 50Mb exome v3 and Hiseq 75bp paired reads with an mean sequencing coverage target of 50X.	Illumina HiSeq 2000	95

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