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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

7 Mar 2019

Abstract excerpt

BACKGROUND: Genetic heterogeneity is common in inherited cardiac diseases. Next-generation sequencing gene panels are therefore suitable for genetic diagnosis. We describe the results of implementation of cardiomyopathy and arrhythmia gene panels in clinical care. METHODS: We present detection rates for variants with unknown (class 3), likely (class 4), and certain (class 5) pathogenicity in cardiogenetic gene...

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PMID: 30847666
DOI: 10.1007/s12471-019-1250-5

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