Article
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
Circulation. Cardiovascular genetics - 1 Oct 2017
Cirino Allison L, Lakdawala Neal K, McDonough Barbara, Conner Lauren, Adler Dale, Weinfeld Mark, O'Gara Patrick, Rehm Heidi L, Machini Kalotina, Lebo Matthew, Blout Carrie, Green Robert C, MacRae Calum A, Seidman Christine E, Ho Carolyn Y
Abstract excerpt
BACKGROUND: As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS: Forty-one patients with hypertrophic cardiomyopathy who had undergone targeted...
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