Fig. 1

Schematic workflow of the diagnostic application of targeted exome sequencing in familial and simplex retinitis pigmentosa. 62 cases consisting of 46 patients in 18 families and 16 cases in simplex families were recruited, and targeted re-sequencing was performed for 53 RP-related genes. Candidate variants were identified by filtering based on variant quality > 20 and minor allele frequency < 0.01 from 1000 Genome Project (www.1000genomes.org), Exome Variant Server (evs.gs.washington.edu) and our in-house DB consisting of 192 Korean exomes. The variants were finally confirmed by a cosegregation test if familiar cases, in silico tools and Sanger sequencing