Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work,...

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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Riera, Marina, Navarro, Rafael, Ruiz-Nogales, Sheila, Méndez, Pilar, Burés-Jelstrup, Anniken, Corcóstegui, Borja, Pomares, Esther
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5299602/
https://ncbi.nlm.nih.gov/pubmed/28181551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42078
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