Article
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
Journal of the American Heart Association - 21 Jan 2020
Ramchand Jay, Wallis Mathew, Macciocca Ivan, Lynch Elly, Farouque Omar, Martyn Melissa, Phelan Dean, Chong Belinda, Lockwood Siobhan, Weintraub Robert, Thompson Tina, Trainer Alison, Zentner Dominica, Vohra Jitendra, Chetrit Michael, Hare David L, James Paul
Abstract excerpt
Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first-line genetic test for patients with dilated cardiomyopathy in a contemporary "real-world" setting has not been specifically established. Using whole exome sequencing with rigorous, evidence-based variant interpretation, we aimed to identify the prevalence of a molecular...
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