From: Analytical validation of whole exome and whole genome sequencing for clinical applications
Replicate | Variants | TP | FP/EP | FN | TN | Diff. Alleles | Sensitivity (NRS) | NRC |
---|---|---|---|---|---|---|---|---|
NA12878 Exome | ||||||||
r1-1-1 | 48 | 40 | 5 | 3 | 0 | 0 | 93.0% | 81.4% |
r1-1-2 | 46 | 40 | 2 | 3 | 1 | 0 | 93.0% | 83.7% |
r2-1-1 | 45 | 37 | 1 | 6 | 1 | 0 | 86.0% | 74.4% |
r3-1-1 | 44 | 40 | 0 | 3 | 1 | 0 | 93.0% | 83.7% |
r3-2-1 | 44 | 40 | 0 | 3 | 1 | 0 | 93.0% | 83.7% |
r4-1-1 | 44 | 39 | 0 | 4 | 1 | 0 | 90.7% | 79.1% |
r4-2-1 | 44 | 39 | 0 | 4 | 1 | 0 | 90.7% | 81.4% |
NA12878 Genome | ||||||||
r1-1-1 | 64 | 54 | 1 | 8 | 1 | 1 | 87.3% | 81.0% |
r1-1-3 | 74 | 53 | 11 | 9 | 1 | 1 | 85.7% | 79.4% |
r2-1-1 | 73 | 53 | 10 | 9 | 1 | 1 | 85.7% | 77.8% |
r2-2-1 | 73 | 54 | 10 | 8 | 1 | 1 | 87.3% | 81.0% |
r3-1-1 | 71 | 55 | 8 | 7 | 1 | 1 | 88.9% | 81.0% |
r3-2-1 | 64 | 52 | 1 | 10 | 1 | 1 | 84.1% | 74.6% |