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Variants that get straight to your heart - Cardiogenetic secondary findings in exome sequencing.

Gene - 30 Jan 2025

Wenderholm Kirsten, Brunet Theresa, Graf Elisabeth, Arens Marie, Martens Eimo, Winkelmann Juliane, Hoefele Julia, Westphal Dominik S

Abstract excerpt

BACKGROUND: Exome sequencing has been established as a fundamental tool in genetic diagnostics. It may also provide information about variants in genes unrelated to the primary purpose, so-called secondary findings. Especially, diagnoses of unnoticed inborn cardiac diseases are of high clinical relevance due to therapeutic options in context of prevention of sudden cardiac death. METHODS: Exome data of 9962...

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PMID: 39486665
DOI: 10.1016/j.gene.2024.149063

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