Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

PURPOSE: To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). DESIGN: Case series. PARTICIPANTS: A total of 562 patients diagnosed with IRD. METHODS: We performed a direct comparative analysis of...

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Detalles Bibliográficos
Autores principales: Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bishop, Paul N., Roberts, Stephen A., Leach, Rick, Tearle, Rick, Bayliss, Stuart, Ramsden, Simon C., Nemeth, Andrea H., Black, Graeme C.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717/
https://www.ncbi.nlm.nih.gov/pubmed/26872967
http://dx.doi.org/10.1016/j.ophtha.2016.01.009

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