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

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 causati...

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Detalles Bibliográficos
Autores principales: Fear, Vanessa S., Forbes, Catherine A., Shaw, Nicole C., Farley, Kathryn O., Mantegna, Jessica L., Htun, Jasmin P., Syn, Genevieve, Viola, Helena, Cserne Szappanos, Henrietta, Hool, Livia, Ward, Michelle, Baynam, Gareth, Lassmann, Timo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696868/
https://www.ncbi.nlm.nih.gov/pubmed/38049901
http://dx.doi.org/10.1186/s13287-023-03592-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696868/
https://www.ncbi.nlm.nih.gov/pubmed/38049901
http://dx.doi.org/10.1186/s13287-023-03592-1

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