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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-02-01
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Series: | Stem Cell Research & Therapy |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13287-022-02740-3 |