CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Nathaniel J Hafford-TearYu-Chih TsaiAmanda N SadanBeatriz Sanchez-PintadoChristina ZarouchliotiGeoffrey J MaherPetra LiskovaStephen J TuftAlison J HardcastleTyson A ClarkAlice E DavidsonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
CRISPR-guided SMRT sequencing of CTG18.1 has revealed novel insights into CTG18.1 length instability. Furthermore, this study provides a framework to improve the molecular diagnostic accuracy for CTG18.1-mediated FECD, which we anticipate will become increasingly important as gene-directed therapies are developed for this common age-related and sight threatening disease.