Table 2. Exome sequencing-based CNV calls in HapMap samples.
Method | Numberof CNVs | Validation dataset | Number ofoverlapping CNVs | Positive predictivevalue | Sensitivity |
Outlier-based calling method with type10 | 40 | 3,330 arrayCGH calls | 37 | 93% | 1.1% |
Outlier-based calling method withtype20 including type10 | 65 | 55 | 85% | 1.7% | |
CoNIFER | 32 | 26 | 81% | 0.8% | |
ExomeDepth | 1,555 | 253 | 16% | 7.6% |