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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5787040/
https://ncbi.nlm.nih.gov/pubmed/28749477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.97
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