From: Achieving high-sensitivity for clinical applications using augmented exome sequencing
 |  | MIG | Common Target File | Union Target File | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  | TP | FP | FN | %Sens | %FDRa | TP | FP | FN | %Sens | %FDRa | TP | FP | FN | %Sens | %FDRa |
95%CI | 95%CI | 95%CI | 95%CI | 95%CI | 95Â % CI | |||||||||||
ACE | SNV | 518 | 0 | 16 | 97.0 | <0.1 | 706 | 1 | 22 | 97.0 | 0.1 | 562 | 2 | 30 | 94.9 | 0.4 |
95.2-98.3 | <0.1-0.7 | 95.5-98.1 | <0.1-0.8 | (92.8-96.6) | (<0.1-1.3) | |||||||||||
InDel | 18 | 1 | 1 | 94.7 | 5.3 | 23 | 0 | 0 | 100 | <0.1 | 37 | 0 | 3 | 92.5 | <0.1 | |
74.0-99.9 | 0.1-26.0 | 85.2-100 | <0.1-14.8 | (79.6-98.4) | (<0.1-9.5) | |||||||||||
WGSb | SNV | 499 | 0 | 35 | 93.4 | <0.1 | 701 | 0 | 27 | 96.3 | <0.1 | 573 | 0 | 19 | 96.8 | <0.1 |
91.0-95.4 | <0.1-0.7 | 94.6-97.5 | <0.1-0.5 | (95.0-98.1) | (0–0.6) | |||||||||||
InDel | 18 | 0 | 1 | 94.7 | <0.1 | 23 | 0 | 0 | 100 | <0.1 | 38 | 0 | 2 | 95.0 | <0.1 | |
74.0-99.9 | <0.1-18.5 | 85.2-100 | <0.1-14.8 | (83.1-99.4) | (<0.1-9.3) | |||||||||||
SSCR | SNV | 504 | 1 | 30 | 94.4 | 0.2 | 684 | 4 | 44 | 94.0 | 0.6 | 545 | 2 | 47 | 92.1 | 0.4 |
92.1-96.2 | <0.1-1.1 | 92.0-95.6 | 0.2-1.5 | (89.6-94.1) | (<0.1-1.3) | |||||||||||
InDel | 17 | 1 | 2 | 89.5 | 5.6 | 21 | 1 | 2 | 91.3 | 4.5 | 37 | 0 | 3 | 92.5 | <0.1 | |
66.9-98.7 | 0.1-27.3 | 72.0-98.9 | 0.1-22.8 | (79.6-98.4) | (<0.1-9.5) | |||||||||||
SS | SNV | 497 | 2 | 37 | 93.1 | 0.4 | 704 | 0 | 24 | 96.7 | <0.1 | 562 | 1 | 30 | 94.9 | 0.2 |
90.6-95.1 | <0.1-1.4 | 95.1-97.9 | <0.1-0.5 | (92.8-96.6) | (<0.1-1) | |||||||||||
InDel | 16 | 2 | 3 | 84.2 | 11.1 | 21 | 0 | 2 | 91.3 | <0.1 | 37 | 0 | 3 | 92.5 | <0.1 | |
60.4-96.6 | 1.4-34.7 | 72.0-98.9 | <0.1-16.1 | (79.6-98.4) | (<0.1-9.5) | |||||||||||
NX | SNV | 465 | 1 | 69 | 87.1 | 0.2 | 650 | 1 | 78 | 89.3 | 0.2 | 484 | 0 | 108 | 81.8 | <0.1 |
83.9-89.8 | <0.1-1.2 | 86.8-91.4 | <0.1-0.9 | (78.4-84.8) | (<0.1-0.8) | |||||||||||
InDel | 19 | 0 | 0 | 100 | <0.1 | 21 | 0 | 2 | 91.3 | <0.1 | 31 | 1 | 9 | 77.5 | 3.1 | |
82.4-100 | <0.1-17.6 | 72.0-98.9 | <0.1-16.1 | (61.5-89.2) | (0.1-16.2) | |||||||||||
NG | SNV | 346 | 6 | 188 | 64.8 | 1.7 | 436 | 14 | 292 | 59.9 | 3.1 | 373 | 10 | 219 | 63.0 | 2.6 |
60.6-68.8 | 0.6-3.7 | 56.2-63.5 | 1.7-5.2 | (59.0-66.9) | (1.3-4.7) | |||||||||||
InDel | 11 | 0 | 8 | 57.9 | <0.1 | 11 | 1 | 12 | 47.8 | 8.3 | 20 | 1 | 20 | 50.0 | 4.8 | |
33.5-79.7 | <0.1-28.5 | 26.8-69.4 | 0.2-38.5 | (33.8-66.2) | (0.1-23.8) |