A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman…·Susanne Roosing
This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.