Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Inherited retinal dystrophies (IRDs) are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES) in 11 families with IRDs and identifi...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938416/
https://ncbi.nlm.nih.gov/pubmed/27391102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0158692
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