Article
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019
Minoche Andre E, Horvat Claire, Johnson Renee, Gayevskiy Velimir, Morton Sarah U, Drew Alexander P, Woo Kerhan, Statham Aaron L, Lundie Ben, Bagnall Richard D, Ingles Jodie, Semsarian Christopher, Seidman J G, Seidman Christine E, Dinger Marcel E, Cowley Mark J, Fatkin Diane
Abstract excerpt
PURPOSE: We evaluated genome sequencing (GS) as an alternative to multigene panel sequencing (PS) for genetic testing in dilated cardiomyopathy (DCM). METHODS: Forty-two patients with familial DCM underwent PS and GS, and detection rates of rare single-nucleotide variants and small insertions/deletions in panel genes were compared. Loss-of-function variants in 406 cardiac-enriched genes were evaluated, and an...
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