CRISPR/Cas9-targeted anrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

Abstrakt

CRISPR-quided 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, wich we anticipate will become increasingly important as genedirected therapies are developed for this common age-related and sight threatening disease.

Klíčová slova

• Fuchs endothelial corneal dystrophy
• amplification-free sequencing
• triplet repeat-mediated disease
• somatic mosaicism
• no-amp targeted sequencing