Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover...

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Detalles Bibliográficos
Autores principales: Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827063/
https://www.ncbi.nlm.nih.gov/pubmed/24265693
http://dx.doi.org/10.1371/journal.pone.0078496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827063/
https://www.ncbi.nlm.nih.gov/pubmed/24265693
http://dx.doi.org/10.1371/journal.pone.0078496

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