The evaluation of Copy Number Variants in an unselected population of patients with Inherited Cardiac Conditions: The INTERACTION Study

Corona Giulia

doi:10.1093/europace/euag150

The evaluation of Copy Number Variants in an unselected population of patients with Inherited Cardiac Conditions: The INTERACTION Study

2026-06-16

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Andrioletti Valentina

DOI：10.1093/europace/euag150

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The current diagnostic approach to inherited cardiac conditions (ICCs) is primarily focused on the analysis of single-nucleotide variants (SNVs) and small insertions/deletions (InDels). However, as recommended for other inherited diseases, the analysis of Copy Number Variants (CNVs) should be equally considered. In cardiology, the diagnostic contribution of CNVs remains insufficiently studied, with limited evidence and no standardized recommendations for analytical workflows.

The evaluation of Copy Number Variants in an unselected population of patients with Inherited Cardiac Conditions: The INTERACTION Study

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