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

Figure 2

Workflow of data analysis and filtering. The sff (sequence file format) files generated by 454 Roche GS Junior sequencing were imported either into Reference Mapper or Sequence Pilot software. The coding sequence variants were selected from the 454_HCDiffs.txt files that contained all sequence variants. During filtering, coding sequence variants reported in dbSNP were removed, and missense and nonsense mutations kept. The remaining coding sequence variants were prioritized according to known reported mutations, the mode of inheritance, the percentage of sequence reads reporting the variant (threshold of 20%), and the predicted effect on the protein (PolyPhen score).