In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases
Marianna E. Weener, Kevin Valestil, Emily Place, Sudeep Mehrotra, Daniel Navarro, Hilary Scott, Kinga M. Bujakowska, Eric A. Pierce
This study evaluates the pathogenicity of deep intronic variants in recessive retinal diseases using a high-throughput splicing assay, finding that 19.4% of variants activate cryptic exons.
bioRxiv · Sep 24, 2026 · PreprintGenetics