From: A new massively parallel nanoball sequencing platform for whole exome research
detected variants | GIAB-specific variations | Sensitivity (%) | Precision (%)a | F-measure (%)b | ||||
---|---|---|---|---|---|---|---|---|
total | in GIAB | not in GIAB | ||||||
SNV | Hiseq-1 | 35,051 | 34,851 | 200 | 359 | 98.98 | 99.43 | 99.20 |
Hiseq-2 | 35,026 | 34,793 | 233 | 417 | 98.82 | 99.33 | 99.07 | |
Hiseq-3 | 35,030 | 34,821 | 209 | 389 | 98.90 | 99.40 | 99.15 | |
Hiseq-4 | 35,037 | 34,842 | 195 | 368 | 98.95 | 99.44 | 99.20 | |
BGISEQ-1 | 35,073 | 34,883 | 190 | 327 | 99.07 | 99.46 | 99.26 | |
BGISEQ-2 | 35,069 | 34,876 | 193 | 334 | 99.05 | 99.45 | 99.25 | |
BGISEQ-3 | 35,071 | 34,886 | 185 | 324 | 99.08 | 99.47 | 99.28 | |
BGISEQ-4 | 35,048 | 34,881 | 167 | 329 | 99.07 | 99.52 | 99.29 | |
Hiseq-1 PE100 | 35,110 | 34,905 | 205 | 305 | 99.13 | 99.42 | 99.27 | |
Hiseq-2 PE100 | 35,056 | 34,855 | 201 | 355 | 98.99 | 99.43 | 99.21 | |
Hiseq-3 PE100 | 35,174 | 34,880 | 294 | 330 | 99.06 | 99.16 | 99.11 | |
Hiseq-4 PE100 | 35,143 | 34,897 | 246 | 313 | 99.11 | 99.30 | 99.21 | |
indel | Hiseq-1 | 2501 | 2453 | 48 | 197 | 92.57 | 98.08 | 95.24 |
Hiseq-2 | 2493 | 2454 | 39 | 196 | 92.60 | 98.44 | 95.43 | |
Hiseq-3 | 2507 | 2457 | 50 | 193 | 92.72 | 98.01 | 95.29 | |
Hiseq-4 | 2508 | 2453 | 55 | 197 | 92.57 | 97.81 | 95.11 | |
BGISEQ-1 | 2542 | 2480 | 62 | 170 | 93.58 | 97.56 | 95.53 | |
BGISEQ-2 | 2571 | 2498 | 73 | 152 | 94.26 | 97.16 | 95.69 | |
BGISEQ-3 | 2553 | 2478 | 75 | 172 | 93.51 | 97.06 | 95.25 | |
BGISEQ-4 | 2564 | 2488 | 76 | 162 | 93.89 | 97.04 | 95.44 | |
Hiseq-1 PE100 | 2538 | 2498 | 40 | 152 | 94.26 | 98.42 | 96.30 | |
Hiseq-2 PE100 | 2512 | 2471 | 41 | 179 | 93.25 | 98.37 | 95.74 | |
Hiseq-3 PE100 | 2541 | 2474 | 67 | 176 | 93.36 | 97.36 | 95.32 | |
Hiseq-4 PE100 | 2523 | 2484 | 39 | 166 | 93.74 | 98.45 | 96.04 |