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 | 5362 | 5 | 62 | 98.9 | 0.1 | 7133 | 12 | 90 | 98.8 | 0.2 | 7486 | 6 | 191 | 97.5 | 0.1 |
98.5-99.1 | <0.1-0.2 | 98.5-99.0 | 0.1-0.3 | (97.1-97.8) | (<0.1-0.2) | |||||||||||
InDel | 34 | 1 | 2 | 94.4 | 2.9 | 83 | 0 | 0 | 100 | <0.1 | 198 | 3 | 16 | 92.5 | 1.5 | |
81.3-99.3 | 0.1-14.9 | 95.7-100 | <0.1-4.3 | (88.1-95.7) | (0.3-4.3) | |||||||||||
WGSb | SNV | 5309 | 2 | 115 | 97.9 | <0.1 | 7076 | 6 | 147 | 98.0 | 0.1 | 7479 | 2 | 198 | 97.4 | <0.1 |
97.5-98.2 | <0.1-0.1 | 97.6-98.3 | <0.1-0.2 | (97–97.8) | (<0.1-0.1) | |||||||||||
InDel | 33 | 1 | 3 | 91.7 | 2.9 | 78 | 0 | 5 | 94.0 | <0.1 | 197 | 2 | 17 | 92.1 | 1.0 | |
77.5-98.2 | 0.1-15.3 | 86.5-98.0 | <0.1-4.6 | (87.6-95.3) | (0.1-3.6) | |||||||||||
SSCR | SNV | 5341 | 4 | 83 | 98.5 | 0.1 | 7107 | 11 | 116 | 98.4 | 0.2 | 7443 | 4 | 234 | 97.0 | 0.1 |
98.1-98.8 | <0.1-0.2 | 98.1-98.7 | 0.1-0.3 | (96.5-97.3) | (<0.1-0.1) | |||||||||||
InDel | 34 | 2 | 2 | 94.4 | 5.6 | 82 | 0 | 1 | 98.8 | <0.1 | 194 | 4 | 20 | 90.7 | 2 | |
81.3-99.3 | 0.7-18.7 | 93.5-100 | <0.1-4.4 | (85.9-94.2) | (0.6-5.1) | |||||||||||
SS | SNV | 5355 | 2 | 69 | 98.7 | <0.1 | 7126 | 5 | 97 | 98.7 | 0.1 | 7468 | 3 | 209 | 97.3 | <0.1 |
98.4-99.0 | <0.1-0.1 | 98.4-98.9 | <0.1-0.2 | (96.9-97.6) | (<0.1-0.1) | |||||||||||
InDel | 33 | 2 | 3 | 91.7 | 5.7 | 82 | 0 | 1 | 98.8 | <0.1 | 192 | 5 | 22 | 89.7 | 2.5 | |
77.5-98.2 | 0.7-19.2 | 93.5-100 | <0.1-4.4 | (84.8-93.4) | (0.8-5.8) | |||||||||||
NX | SNV | 5240 | 4 | 184 | 96.6 | 0.1 | 7020 | 8 | 203 | 97.2 | 0.1 | 6754 | 10 | 923 | 88.0 | 0.1 |
96.1-97.1 | <0.1-0.2 | 96.8-97.6 | <0.1-0.2 | (87.2-88.7) | (0.1-0.3) | |||||||||||
InDel | 33 | 2 | 3 | 91.7 | 5.7 | 77 | 2 | 6 | 92.8 | 2.5 | 160 | 6 | 54 | 74.8 | 3.6 | |
77.5-98.2 | 0.7-19.2 | 84.9-97.3 | 0.3-8.8 | (68.4-80.4) | (1.3-7.7) | |||||||||||
NG | SNV | 5190 | 31 | 234 | 95.7 | 0.6 | 6900 | 39 | 323 | 95.5 | 0.6 | 7065 | 38 | 612 | 92.0 | 0.5 |
95.1-96.2 | 0.4-0.8 | 95.0-96.0 | 0.4-0.8 | (91.4-92.6) | (0.4-0.7) | |||||||||||
InDel | 31 | 4 | 5 | 86.1 | 11.4 | 74 | 2 | 9 | 89.2 | 2.6 | 168 | 10 | 46 | 78.5 | 5.6 | |
70.5-95.3 | 3.2-26.7 | 80.4-94.9 | 0.3-9.2 | (72.4-83.8) | (2.7-10.1) |