Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

PURPOSE: Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-number variations (CNVs), which have been...

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Detalles Bibliográficos
Autores principales: Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272325/
https://www.ncbi.nlm.nih.gov/pubmed/32037395
http://dx.doi.org/10.1038/s41436-020-0759-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272325/
https://www.ncbi.nlm.nih.gov/pubmed/32037395
http://dx.doi.org/10.1038/s41436-020-0759-8

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