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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

5 Dec 2023

Abstract excerpt

BACKGROUND: Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. We investigated stem cell cardiac disease modelling and...

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PMID: 38049901
DOI: 10.1186/s13287-023-03592-1

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