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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2023-12-01
Series:Stem Cell Research & Therapy
Subjects:
Inducible pluripotent stem cells
CRISPR gene editing
Cardiac disease modelling
Online Access:https://doi.org/10.1186/s13287-023-03592-1

Internet

https://doi.org/10.1186/s13287-023-03592-1

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