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

Abstract 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...

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Hlavní autoři:	Vanessa S. Fear, Catherine A. Forbes, Nicole C. Shaw, Kathryn O. Farley, Jessica L. Mantegna, Jasmin P. Htun, Genevieve Syn, Helena Viola, Henrietta Cserne Szappanos, Livia Hool, Michelle Ward, Gareth Baynam, Timo Lassmann
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2023-12-01
Edice:	Stem Cell Research & Therapy
Témata:	Inducible pluripotent stem cells CRISPR gene editing Cardiac disease modelling
On-line přístup:	https://doi.org/10.1186/s13287-023-03592-1
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