IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library,...

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Bibliographic Details
Main Authors: Daniel F. Schorderet, Alexandra Iouranova, Tatiana Favez, Leila Tiab, Pascal Escher
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2013/198089