Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewed
Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing
Gerardo Fabian-Morales, Vianey Ordoñez‐Labastida, William J. Rowell…·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.
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