Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

Vanessa S Fear,Catherine A Forbes,Denise Anderson,Sebastian Rauschert,Genevieve Syn,Nicole Shaw,Matthew E Jones,Alistair Rr Forrest,Gareth Baynam,Timo Lassmann

Gene（2022）

引用 3|浏览17

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摘要

•CRISPR gene editing for gene haploinsufficiency.•High throughput clone selection of CRISPR edited cells.•Rare disease genetic variant assessment in HEK293 cells.•Identified changes in molecular pathways relevant to disease phenotype.

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关键词

Rare genetic diseases,Translational genetics,Kleefstra Syndrome,CRISPR editing,Next generation sequencing

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