Research Article

Comparative Study of Exome Copy Number Variation Estimation Tools Using Array Comparative Genomic Hybridization as Control

Figure 3

Specificity of four algorithms for CNV detection. CoNIFER identified many fewer CNVs but with a high true positive rate at deletion detection. ExomeDepth and ExomeCopy showed comparable specificity with CoNIFER on duplication detection but many more false positives on deletion detection. Cn.MOPS showed best specificity at duplication detection and second best specificity at deletion identified many more CNVs than CoNIFER. Overall, cn.MOPS achieved the highest specificity among all four algorithms.
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