Article
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Circulation. Genomic and precision medicine - 1 Apr 2020
Morales Ana, Kinnamon Daniel D, Jordan Elizabeth, Platt Julia, Vatta Matteo, Dorschner Michael O, Starkey Carl A, Mead Jonathan O, Ai Tomohiko, Burke Wylie, Gastier-Foster Julie, Jarvik Gail P, Rehm Heidi L, Nickerson Deborah A, Hershberger Ray E
Abstract excerpt
BACKGROUND: The hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that most dilated cardiomyopathy has a genetic basis. The study returns results to probands and, when indicated, to relatives. While both the American College of Medical Genetics and Genomics/Association for Molecular Pathology and ClinGen's MYH7-cardiomyopathy specifications provide relevant guidance for variant interpretation,...
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