Exome_sequencing_of_Congenital_Heart_Disease_families_from_the_Competence_Network_Berlin
This project aims to study exomes from families and trios withcongenital heart disease (CHD). The samples have been collected underthe Competence Network - Congenital Heart Defects in Berlin, Germany.The phenotypes are mainly left ventricular outflow obstruction (aorticstenosis, bicuspd aortic valve disease coarctation and hypoplasticleft heart), but will also include samples with hypoplastic rightheart and atrioventricular septal defects. We will perform whole exomesequencing using Agilent sequence capture and Illumina HiSeqsequencing.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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 |
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EGAD00001000800 | Illumina HiSeq 2000 | 406 |
Publications | Citations |
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet 48: 2016 1060-1065 |
231 |