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

Gene - 5 May 2022

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

Abstract excerpt

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. Low throughput functional validation in specialist laboratories is the current ad hoc approach for functional validation of genetic variants, which...

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PMID: 35176430
DOI: 10.1016/j.gene.2022.146287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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