Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

<p><strong>Purpose</strong></p> <p>Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Ass...

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Bibliographic Details
Main Authors: Kelly, M, Caleshu, C, Morales, A, Buchan, J, Wolf, Z, Harrison, S, Cook, S, Dillon, M, Garcia, J, Haverfield, E, Jongbloed, J, Macaya, D, Manrai, A, Orland, K, Richard, G, Spoonamore, K, Thomas, M, Thomson, K, Vincent, L, Walsh, R, Watkins, H, Whiffin, N, Ingles, J, Van Tintelen, J, Semsarian, C, Ware, J, Hershberger, R, Funke, B
Format: Journal article
Language:English
Published: Springer Nature 2018
Subjects:
cardiomyopathies
myosin
genetic variation
disease genetics

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