Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease [Original Articles]

Conclusions— Our findings demonstrate the clinical utility of WES to identify causative mutations in familial CHD and demonstrate the successful use of a CHD candidate gene list to allow for a more streamlined approach enabling rapid prioritization and identification of likely pathogenic variants from large WES data sets. Clinical Trial Registration— URL: https://clinicaltrials.gov; Unique Identifier: NCT0112048.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Translational Studies, Genetics, Congenital Heart Disease Original Articles Source Type: research