High Diagnostic Yield of Whole Exome Sequencing in Participants with Retinal Dystrophies in a Clinical Ophthalmology Setting

PURPOSE: To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting. DESIGN: Evaluation of a diagnostic protocol. METHODS: SETTING: Patient participants were enrolled during clinical appointments in a university based Ophthalmic...

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Detalhes bibliográficos
Publicado no:Am J Ophthalmol
Main Authors: Lee, Kristy, Berg, Jonathan S., Milko, Laura, Crooks, Kristy, Lu, Mei, Bizon, Chris, Owen, Phillips, Wilhelmsen, Kirk C., Weck, Karen E., Evans, James P., Garg, Seema
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4506879/
https://ncbi.nlm.nih.gov/pubmed/25910913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2015.04.026
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