bioRxiv preprint doi: https://doi.org/10.1101/742106; this version posted August 21, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations Erin Zampaglione1*, Benyam Kinde1*, Emily M. Place1, Daniel Navarro-Gomez1, Matthew Maher1, Farzad Jamshidi1, Sherwin Nassiri2, J. Alex Mazzone1, Caitlin Finn1, Dana Schlegel3, Jason Comander1, Eric A. Pierce1, Kinga M. Bujakowska1 1Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, MA 02114, USA 2Rosalind Franklin University of Medicine & Science, RFUMS / Chicago Medical School, North Chicago, IL 60064, USA 3Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48150, USA *these authors contributed equally to the work. Corresponding author: Dr. Kinga Bujakowska Massachusetts Eye and Ear, 243 Charles Street, Boston, MA 02114
[email protected], Tel.: (617)-391-5933, Fax: (617)-573-6901 1 bioRxiv preprint doi: https://doi.org/10.1101/742106; this version posted August 21, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. ABSTRACT: Purpose: Current sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing.