Table 3.
Patient sequencing metrics.
| Patients | Mapped Reads | Reads on Target (%) | Uniformity (%) | ROI MEAN COVERAGE | ROI ≥ 20× (%) | n of Amplicons < 20× | ROI ≥ 100× (%) | n of Amplicons < 100× |
|---|---|---|---|---|---|---|---|---|
| EO1 | 178,727 | 92.13 | 93.95 | 459.94 | 98.60 | 5 | 94.97 | 18 |
| EO2 | 178,731 | 90.57 | 94.83 | 452.19 | 98.88 | 4 | 95.53 | 16 |
| EO3 | 72,440 | 91.78 | 93.75 | 185.71 | 96.93 | 11 | 83.52 | 59 |
| EO4 | 247,711 | 90.70 | 93.90 | 627.61 | 99.44 | 2 | 96.09 | 14 |
| EO5 | 111,232 | 91.03 | 93.57 | 282.82 | 97.21 | 10 | 91.62 | 30 |
| EO6 | 280,419 | 93.08 | 94.15 | 729.08 | 99.16 | 3 | 96.09 | 14 |
| EO7 | 623,594 | 92.53 | 93.81 | 1611.77 | 99.44 | 2 | 98.32 | 6 |
| EO8 | 561,715 | 97.46 | 92.18 | 1529.12 | 99.44 | 2 | 97.49 | 9 |
| EO9 | 77,846 | 93.36 | 93.83 | 203.00 | 96.93 | 11 | 86.87 | 47 |
| EO10 | 381,796 | 96.33 | 93.71 | 1027.32 | 99.44 | 2 | 97.21 | 10 |
| EO11 | 311,658 | 93.28 | 93.70 | 812.08 | 99.44 | 2 | 96.09 | 14 |
| EO12 | 239,783 | 93.00 | 94.15 | 622.93 | 98.88 | 4 | 95.53 | 16 |
| EO13 | 276,453 | 93.48 | 94.44 | 721.90 | 99.44 | 2 | 96.09 | 14 |
| EO14 | 215,672 | 93.30 | 94.53 | 562.09 | 99.44 | 2 | 95.81 | 15 |
| EO15 | 465,323 | 94.73 | 93.01 | 1231.34 | 99.44 | 2 | 96.65 | 12 |
| EO16 | 465,619 | 97.25 | 92.65 | 1264.84 | 99.44 | 2 | 96.93 | 11 |
| EO17 | 441,220 | 95.42 | 92.96 | 1176.05 | 99.72 | 1 | 97.49 | 9 |
| EO18 | 192,373 | 98.07 | 91.50 | 526.97 | 98.60 | 5 | 94.13 | 21 |
| EO19 | 313,968 | 95.80 | 93.72 | 840.19 | 99.16 | 3 | 96.65 | 12 |
| EO20 | 192,211 | 95.35 | 94.02 | 517.24 | 98.60 | 5 | 95.81 | 15 |
| EO21 | 196,251 | 95.05 | 94.02 | 521.07 | 98.88 | 4 | 95.81 | 15 |
| EO22 | 303,435 | 96.01 | 93.55 | 813.79 | 98.88 | 4 | 96.65 | 12 |
| EO23 | 322,467 | 94.14 | 92.17 | 847.94 | 98.88 | 4 | 95.81 | 15 |
| EO24 | 253,552 | 95.97 | 91.35 | 679.71 | 98.88 | 4 | 95.53 | 16 |
| EO25 | 188,696 | 95.33 | 93.96 | 502.45 | 98.60 | 5 | 95.53 | 16 |
| EO26 | 182,956 | 94.99 | 92.88 | 485.47 | 98.88 | 4 | 94.13 | 21 |
| EO27 | 191,880 | 94.62 | 93.58 | 507.12 | 98.88 | 4 | 94.97 | 18 |
| EO28 | 228,313 | 92.89 | 93.22 | 592.43 | 98.88 | 4 | 94.69 | 19 |
| EO29 | 199,442 | 98.07 | 92.15 | 546.33 | 98.32 | 6 | 94.97 | 18 |
| EO30 | 190,915 | 97.24 | 92.66 | 518.58 | 98.04 | 7 | 94.69 | 19 |
| EO31 | 161,793 | 95.49 | 92.19 | 431.54 | 97.77 | 8 | 93.30 | 24 |
| EO32 | 245,414 | 89.57 | 93.45 | 613.99 | 98.32 | 6 | 95.81 | 15 |
| EO33 | 205,079 | 95.46 | 85.54 | 546.83 | 96.65 | 12 | 89.39 | 38 |
| EO34 | 210,900 | 97.24 | 93.66 | 572.83 | 98.60 | 5 | 95.25 | 17 |
| EO35 | 147,306 | 97.24 | 92.62 | 402.14 | 98.32 | 6 | 94.13 | 21 |
| LO1 | 178,290 | 90.77 | 93.68 | 321.94 | 97.77 | 8 | 91.90 | 29 |
| LO2 | 205,008 | 93.84 | 93.97 | 537.36 | 99.16 | 3 | 96.09 | 14 |
| LO3 | 159,828 | 93.15 | 93.80 | 502.12 | 98.88 | 4 | 95.53 | 16 |
| LO4 | 193,973 | 93.90 | 94.09 | 1062.97 | 99.44 | 2 | 96.37 | 13 |
| LO5 | 191,160 | 93.72 | 93.21 | 1097.36 | 99.16 | 3 | 96.65 | 12 |
| LO6 | 177,316 | 94.10 | 93.42 | 931.78 | 99.44 | 2 | 96.37 | 13 |
| LO7 | 238,812 | 94.23 | 93.77 | 593.70 | 97.77 | 8 | 92.18 | 28 |
| LO8 | 158,483 | 93.67 | 93.01 | 708.10 | 99.44 | 2 | 97.49 | 9 |
| LO9 | 213,370 | 93.89 | 94.34 | 861.05 | 99.44 | 2 | 97.21 | 10 |
| LO10 | 190,285 | 94.47 | 93.70 | 415.86 | 98.32 | 6 | 94.41 | 20 |
| LO11 | 182,160 | 93.99 | 94.02 | 505.35 | 98.32 | 6 | 94.97 | 18 |
| LO12 | 213,052 | 92.51 | 94.69 | 532.23 | 98.88 | 4 | 94.97 | 18 |
| LO13 | 249,591 | 93.48 | 93.92 | 304.45 | 96.93 | 11 | 90.78 | 33 |
| LO14 | 195,422 | 94.82 | 94.22 | 378.77 | 98.04 | 7 | 92.74 | 26 |
| LO15 | 201,815 | 95.14 | 93.81 | 717.45 | 98.60 | 5 | 95.53 | 16 |
| LO16 | 400,156 | 98.18 | 90.79 | 500.41 | 98.60 | 5 | 94.41 | 20 |
| LO17 | 274,868 | 95.75 | 91.07 | 423.42 | 98.04 | 7 | 92.74 | 26 |
| LO18 | 158,695 | 92.07 | 94.09 | 457.87 | 98.32 | 6 | 94.97 | 18 |
| LO19 | 195,752 | 89.66 | 93.66 | 206.68 | 96.65 | 12 | 86.03 | 50 |
| LO20 | 83,846 | 88.25 | 93.28 | 490.24 | 98.32 | 6 | 94.13 | 21 |
| LO21 | 179,015 | 91.57 | 94.00 | 408.12 | 98.60 | 5 | 94.69 | 19 |
| LO22 | 170,180 | 89.07 | 93.89 | 735.17 | 98.60 | 5 | 94.97 | 18 |
| LO23 | 161,290 | 90.82 | 93.26 | 680.84 | 99.16 | 3 | 96.09 | 14 |
| LO24 | 281,769 | 92.16 | 93.07 | 536.34 | 98.60 | 5 | 95.53 | 16 |
| LO25 | 145,219 | 93.37 | 93.76 | 517.60 | 99.16 | 3 | 95.81 | 15 |
| LO26 | 390,025 | 97.57 | 92.65 | 508.78 | 98.88 | 4 | 95.53 | 16 |
| LO27 | 124,848 | 87.30 | 93.29 | 651.69 | 99.16 | 3 | 95.25 | 17 |
| LO28 | 214,031 | 89.02 | 93.84 | 550.53 | 99.16 | 3 | 96.37 | 13 |
| LO29 | 203,428 | 88.93 | 94.12 | 479.56 | 98.88 | 4 | 95.53 | 16 |
| LO30 | 127,496 | 90.40 | 93.91 | 452.05 | 98.32 | 6 | 94.69 | 19 |
| LO31 | 25,524 | 95.49 | 93.62 | 409.17 | 98.04 | 7 | 93.02 | 25 |
| LO32 | 329,472 | 93.56 | 94.58 | 559.60 | 99.16 | 3 | 96.09 | 14 |
| LO33 | 265,155 | 95.60 | 93.94 | 414.68 | 98.32 | 6 | 94.13 | 21 |
| LO34 | 21,736 | 97.78 | 89.25 | 628.59 | 98.88 | 4 | 95.81 | 15 |
| LO35 | 352,805 | 94.55 | 92.69 | 466.05 | 97.77 | 8 | 94.69 | 19 |