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

Abstract 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 det...

Whakaahuatanga katoa

Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Vanessa S. Fear, Catherine A. Forbes, Denise Anderson, Sebastian Rauschert, Genevieve Syn, Nicole Shaw, Sarra Jamieson, Michelle Ward, Gareth Baynam, Timo Lassmann
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	BMC 2022-02-01
Rangatū:	Stem Cell Research & Therapy
Ngā marau:	Rare genetic diseases Translational genetics Kleefstra syndrome CRISPR SNV editing Variant of uncertain significance Inducible pluripotent stem cells
Urunga tuihono:	https://doi.org/10.1186/s13287-022-02740-3
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!