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

doi:10.1038/gim.2017.97

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

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

Abstract excerpt

PurposePart 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 CNV formation.MethodsRetNet genes underwent an assessment of genomic features and of CNV occurrence in the Database of...

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PMID: 28749477
DOI: 10.1038/gim.2017.97
PMCID: PMC5787040

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