CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

BACKGROUND: Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing (NGS) identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance (VUS) and require functional laboratory validation to determine p...

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Detalles Bibliográficos
Autores principales: Fear, Vanessa S., Forbes, Catherine A., Anderson, Denise, Rauschert, Sebastian, Syn, Genevieve, Shaw, Nicole, Jamieson, Sarra, Ward, Michelle, Baynam, Gareth, Lassmann, Timo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827184/
https://www.ncbi.nlm.nih.gov/pubmed/35139903
http://dx.doi.org/10.1186/s13287-022-02740-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827184/
https://www.ncbi.nlm.nih.gov/pubmed/35139903
http://dx.doi.org/10.1186/s13287-022-02740-3

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