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Full-Text Articles in Ophthalmology
Custom Ampliseq Targeted Sequencing Panel For Orphan Pediatric Retinal Diseases: Norrie Disease, Fevr, And Retinoschisis, Michael Sun, Wendy Dailey, Amanda Petrilli Cicerone, Jennifer Felisky, Kaylee Moyer, Naomi Haque, Alvaro Guzman, Kendra Mellert, Kimberly Drenser, Kenneth P. Mitton
Custom Ampliseq Targeted Sequencing Panel For Orphan Pediatric Retinal Diseases: Norrie Disease, Fevr, And Retinoschisis, Michael Sun, Wendy Dailey, Amanda Petrilli Cicerone, Jennifer Felisky, Kaylee Moyer, Naomi Haque, Alvaro Guzman, Kendra Mellert, Kimberly Drenser, Kenneth P. Mitton
Posters
INTRODUCTION
DNA-sequencing is not readily available in countries with little research resources or where health insurance does not cover the costs. This is especially true for very rare (orphan) inheritable retinal diseases. We wanted to develop a rapid targeted-sequencing protocol for eight genes involved in Familial Exudative Vitreo-Retinopathy (FEVR), Norrie Disease, and Retinoschisis, at greatly reduced cost.