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: LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald-Butt, S., Zender, G., Bosse, K., McBride, K. L., White, P., Garg, V. Tags: Translational Studies, Genetics, Congenital Heart Disease Original Articles Source Type: research
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