Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

PURPOSE: Part of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to identify and prioritize those genes susceptible to C...

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Detalles Bibliográficos
Autores principales: Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Kathrin Mayer, Anja, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E, Yang, Marty G, Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J, Leroy, Bart P, De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787040/
https://www.ncbi.nlm.nih.gov/pubmed/28749477
http://dx.doi.org/10.1038/gim.2017.97

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787040/
https://www.ncbi.nlm.nih.gov/pubmed/28749477
http://dx.doi.org/10.1038/gim.2017.97

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