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

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.

Citation:
Fear VS, Forbes CA, Anderson D, Rauschert S, Syn G, Shaw N, Jones ME, Forrest A, Baynam G, Lassmann T. Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study. Gene. 2022;821.

Keywords:
CRISPR editing; Kleefstra Syndrome; Next generation sequencing; Rare genetic diseases; Translational genetics

Abstract:
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.