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Fig. 1 | BMC Bioinformatics

Fig. 1

From: isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

Fig. 1

Overview of the pipeline. (1) CNV calling is performed using three different tools: CNVkit, panelcn.MOPS and DECoN with default parameters. (2) The CNV validation set is obtained from the overlapping calls of the three CNV calling tools. (3) DECoN algorithm is executed using up to 22 different values for each parameter. The results obtained with each combination of parameters are compared with the validated set to obtain optimized parameters. (4) CNV calling is performed using DECoN with optimized parameters. (5) CNV are annotated

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BMC Bioinformatics

ISSN: 1471-2105

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