CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
Fig 2
Comparison of single-stage and two-stage ratio results.
A. Without the two-stage ratio, a disturbed region showed a false-positive duplication on chromosome 13 covered by three amplicons. B. The two-stage ratio improved the stability of the region and the false duplication was no longer detected. C. Without the two-stage ratio, six amplicons (grey dots in Chr13 area) were not detected as deleted throughout chromosome 13 (39 amplicons) and three separated CNVs were detected. D. With the two-stage ratio, only three false-negative amplicons (grey dots in chr13 area) were present among the 39 amplicons of chromosome 13 and only one amplicon split the total deletion of the chromosome (partial screenshots from CovCopCan).