Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing
Gerardo Fabian-Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine C. Lambert, Cairbre Fanslow, Alexander Robertson, Juan Carlos Zenteno
This study uses long-read genome sequencing to diagnose three previously undiagnosed inherited retinal dystrophy cases by identifying structural and deep intronic variants missed by short-read sequencing.
American Journal of Medical Genetics Part A · Jun 2, 2025Peer-reviewedGenetic & Genomic Medicine