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Article

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Human mutation - 1 May 2020

Diebold Isabel, Schön Ulrike, Scharf Florentine, Benet-Pagès Anna, Laner Andreas, Holinski-Feder Elke, Abicht Angela

Abstract excerpt

As comprehensive sequencing technologies gain widespread use, questions about so-called secondary findings (SF) require urgent consideration. The American College of Medical Genetics and Genomics has recommended to report SF in 59 genes (ACMG SF v2.0) including four actionable genes associated with inherited primary arrhythmia syndromes (IPAS) such as catecholaminergic polymorphic ventricular tachycardia, long QT...

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PMID: 32048431
DOI: 10.1002/humu.23996
PMCID: PMC7187207

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