CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
Fig 4
Visualization of chromosome 13 in seven samples.
Each dot corresponds to an amplicon. Orange and red rectangles correspond to deletions and duplications, respectively. The green curve shows the Loess regression. Patients 1 to 4 share a q arm deletion. Samples 5 to 7 do not present this deletion. Without defining samples 5 to 7 as controls, only one deletion was correctly detected in patient 4. A partial deletion was detected in patient 1. False-positive deletions were detected in two of the three controls. By defining samples 5 to 7 as controls, two deletions were correctly detected in patients 1 and 4. Two partial deletions were found in both patients 3 and 4. No duplication was found in the controls (partial screenshots from CovCopCan).