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

Figure 1

Workflow of the custom-designed targeted exome liquid hybridization capture assay IROme. Genomic DNA from patients was fragmented by nebulization and used for shotgun library construction (454 Roche GS Titanium Rapid Library). Upon adapter ligation, target enrichment is achieved by hybridizing the processed genomic DNA to biotinylated probes (Roche NimbleGen SeqCap EZ Choice). After biotin-streptavidin-based capture and washing, DNA was amplified by emulsion PCR and sequenced on a454 Roche GS Junior Sequencer. Sequencing data was aligned and mapped with the Roche 454 Reference Mapper program. Figure adapted from Roche NimbleGen technical information (http://www.nimblegen.com/products/seqcap/index.html).