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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Fig. 3

Evaluation of three CNV detection programs (XHMM, CoNIFER, and CNVnator) using clinical grade paired WES and CMA datasets. (a) 46 Variants detected by at least two different algorithms are listed ordered by size. (b) Size detected by three different programs in comparison with size detected by CMA. (c) Analysis of CNVs undetected by XHMM and CoNIFER. (d) Venn diagram describing the overlap in CNVs that have been confirmed by CMA and at the same time detected by three tools. An overlapping CNV was defined as at least one exon that shared at least 50% of its overall length within a CNV region called by different tools

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