Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

PURPOSE: To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic disease causing variants in inherited retinal dystrophies. METHODS: Affected members from three pedigrees with classical enhanced S-cone s...

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Detalles Bibliográficos
Autores principales: Di Scipio, Matteo, Tavares, Erika, Deshmukh, Shriya, Audo, Isabelle, Green-Sanderson, Kit, Zubak, Yuliya, Zine-Eddine, Fayçal, Pearson, Alexander, Vig, Anjali, Tang, Chen Yu, Mollica, Antonio, Karas, Jonathan, Tumber, Anupreet, Yu, Caberry W., Billingsley, Gail, Wilson, Michael D., Zeitz, Christina, Héon, Elise, Vincent, Ajoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443117/
https://www.ncbi.nlm.nih.gov/pubmed/32881472
http://dx.doi.org/10.1167/iovs.61.10.36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443117/
https://www.ncbi.nlm.nih.gov/pubmed/32881472
http://dx.doi.org/10.1167/iovs.61.10.36

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