DAC Accession Contact Person Email Access Information
EGAC00001000187 Giselle Kerry gh2@sanger.ac.uk http://www.ebi.ac.uk/ega/dacs/EGAC00001000187

This DAC controls 1 datasets:

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

DAC description