Table 3.
sample ID | ExCNVSS | ExCNVSS_noRatio | Excavator | Contra | ExomeCNV | |||||
---|---|---|---|---|---|---|---|---|---|---|
Correctly detected instances (gain/loss) | FNR/FPR (%) |
Correctly detected instances (gain/loss) | FNR/FPR (%) |
Correctly detected instances (gain/loss) | FNR/FPR (%) |
Correctly detected instances (gain/loss) | FNR/FPR (%) |
Correctly detected instances (gain/loss) | FNR/FPR (%) |
|
NA12843 | 31 | 77.04/ | 63 | 53.33/ | 47 | 65.19/ | 11 | 91.85/ | 64 | 52.59/ |
(3/28) | 12.04 | (27/36) | 14.99 | (0/47) | 6.20 | (0/11) | 0.36 | (17/47) | 80.09 | |
NA12842 | 12 | 88.57/ | 39 | 62.86/ | 1 | 99.05/ | 3 | 97.14/ | 28 | 73.33/ |
(3/9) | 11.43 | (25/14) | 17.03 | (0/1) | 4.93 | (0/3) | 0.32 | (17/11) | 56.75 | |
NA12748 | 18 | 82.18/ | 36 | 64.36/ | 1 | 99.01/ | 1 | 99.01/ | 32 | 68.32/ |
(4/14) | 11.25 | (24/12) | 14.47 | (0/1) | 6.00 | (0/1) | 0.26 | (15/17) | 70.67 | |
NA12718 | 50 | 57.26/ | 76 | 35.04/ | 47 | 59.83/ | 17 | 85.47/ | 13 | 88.89/ |
(6/44) | 8.37 | (31/45) | 14.08 | (0/47) | 2.42 | (0/17) | 0.34 | (0/13) | 3.50 | |
NA12275 | 22 | 77.55/ | 43 | 56.12/ | 5 | 94.90/ | 2 | 97.96/ | 9 | 90.82/ |
(9/13) | 12.13 | (33/10) | 13.74 | (0/5) | 2.70 | (1/1) | 0.31 | (0/9) | 1.85 | |
NA12273 | 32 | 71.68/ | 40 | 64.60/ | 11 | 90.27/ | 17 | 84.96/ | 2 | 98.23/ |
(0/32) | 11.68 | (27/13) | 15.12 | (0/11) | 2.95 | (0/17) | 0.38 | (0/2) | 2.60 | |
NA12272 | 35 | 64.65/ | 42 | 57.58/ | 16 | 83.84/ | 1 | 98.99/ | 18 | 81.82/ |
(6/29) | 12.58 | (31/11) | 13.86 | (5/11) | 2.36 | (0/1) | 0.18 | (5/13) | 1.43 | |
NA11843 | 19 | 81.19/ | 37 | 63.37/ | 12 | 88.12/ | 1 | 99.01/ | 34 | 66.34/ |
(10/9) | 9.74 | (26/11) | 15.86 | (0/12) | 6.62 | (0/1) | 0.20 | (19/15) | 78.30 | |
NA10847 | 13 | 86.32/ | 37 | 61.05/ | 7 | 92.63/ | 7 | 92.63/ | 9 | 90.53/ |
(10/3) | 9.58 | (36/1) | 16.24 | (7/0) | 2.56 | (4/3) | 0.35 | (7/2) | 2.03 | |
NA06984 | 25 | 77.68/ | 46 | 58.93/ | 15 | 86.61/ | 13 | 88.39/ | 44 | 60.71/ |
(2/23) | 11.75 | (32/14) | 14.36 | (0/15) | 5.86 | (0/13) | 0.22 | (15/29) | 72.78 |