The evaluation of copy number variants in an unselected population of patients with inherited cardiac conditions: the INTERACTION study.

doi:10.1093/europace/euag150

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The evaluation of copy number variants in an unselected population of patients with inherited cardiac conditions: the INTERACTION study.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 3 Jul 2026

Corona Giulia, Simona Mellone, Maria Gnazzo, Martina Manzoni, Carmela Fusco, Silvia Morlino, Italia Loddo, Floriana Barbera, Luigi Alioto, Stefania Paganini, Luisa Cucugliato, Andrea Faggiano, Valentina Andrioletti, Rossana Mineri, Francesca Girolami, Ivan Limongelli, Mara Giordano, Valeria Novelli

Abstract excerpt

AIMS: 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...

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PMID: 42300264
DOI: 10.1093/europace/euag150
PMCID: PMC13331274

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