Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

@article{LaHaye2016UtilizationOW,
  title={Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.},
  author={Stephanie LaHaye and Don Corsmeier and Madhumita Basu and Jessica L. Bowman and Sara Fitzgerald-Butt and Gloria A Zender and Kevin M. Bosse and Kim L McBride and Peter A White and Vidu Garg},
  journal={Circulation. Cardiovascular genetics},
  year={2016},
  volume={9 4},
  pages={
          320-9
        }
}
BACKGROUND Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal of this study was to determine whether a whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families. METHODS AND RESULTS WES was performed on 9 kindreds with familial CHD, 4 with atrial septal defects, 2 with patent ductus arteriosus, 2 with tetralogy of Fallot, and 1… CONTINUE READING
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