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Fig. 3 | Genome Medicine

Fig. 3

From: ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Fig. 3

Analytical performance of ClinSV. We sequenced the NA12878 control cell line using WGS and compared the performance of a number of popular CNV or SV detection methods. a The sensitivity of different methods to identify 2664 CNV deletions from the Genome in a Bottle (GIAB1) gold standard call set over different size ranges. The number of deletions per size range is indicated along the bottom. b We selected deletions and duplications larger, or smaller than 500 bp (n = 50 each; total n = 200) from each of five different methods. CNVnator had few calls < 500 bp, so we combined all calls into one category. We assessed whether each call was a true positive (TP), false positive (FP) or inconclusive by comparing to long-read PacBio data

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