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

Figure 3

Fold coverage of targeted sequences. For each patient the unique depth data provided by column 5 of the 454_AlignmentInfo.tsv file was used to estimate the coverage per targeted bp. The onefold coverage data corresponding to reference genome sequences used for alignment purposes, but not targeted by IROme, were removed. The coverage data is represented as cumulative percentage; that is, indicating what percentage of targeted bp has a minimal coverage of 𝑥-fold (𝑥 axis represents the fold coverage). The average coverage for all patients is represented as a black dashed line, and the median coverage for all patients is 17-fold.