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-  2019 

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

DOI: 10.1007/s12471-019-1251-4

Keywords: Next-generation sequencing, Variants of unknown significance, Cardiogenetics, Gene panel, Counselling

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Abstract:

Next-generation sequencing gene panels are increasingly used for genetic diagnosis in inherited cardiac diseases. Besides pathogenic variants, multiple variants, variants of uncertain significance (VUS) and incidental findings can be detected. Such test results can be challenging for counselling and clinical decision making

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