Table 1. Coverage metrics of gene panels.
| a) Panel metrics | ||||
|---|---|---|---|---|
| Size | Number of amplicons | Missed bp | Coverage (%) | |
| Panel 1 | 13.42Kb | 83 | 342 | 95.9 |
| Panel 2 | 7.81Kb | 66 | 435 | 95.1 |
| Panel 3 | 8.61Kb | 49 | 562 | 90.1 |
| b) Target genes coverage and missed regions | |||
|---|---|---|---|
| Gene | Target size (bp) | Missed (bp) | Covered (%) |
| IDUA | 2,256 | 209 | 90.74 |
| IDS | 2,079 | 0 | 100 |
| ARSB | 1,820 | 96 | 94.73 |
| GUSB | 2,208 | 37 | 98.32 |
| SGSH | 1,597 | 0 | 100 |
| NAGLU | 2,298 | 294 | 87.21 |
| HGSNAT | 2,106 | 141 | 93.3 |
| GNS | 1,813 | 0 | 100 |
| GALNS | 2,657 | 541 | 79.64 |
| GLB1 | 3,049 | 21 | 99.31 |
| c) Panel coverage metrics | ||||||
|---|---|---|---|---|---|---|
| Number of samples | Mapped reads | Reads on target | Depth of coverage | Uniformity of coverage | ||
| Panel 1 | ||||||
| IDUA | 8 | 77,000 | 79% | 1160 | 88% | |
| IDS | 12 | 76,000 | 81% | 641 | 87% | |
| ARSB | 6 | 75,000 | 82% | 841 | 86% | |
| GUSB | 4 | 76,000 | 82% | 580 | 86% | |
| Panel 2 | ||||||
| SGSH | 11 | 56,000 | 94% | 693 | 90% | |
| NAGLU | 8 | 61,000 | 94% | 764 | 89% | |
| HGSNAT | 2 | 58,000 | 76% | 477 | 91% | |
| GNS | 2 | - | - | - | - | |
| Panel 3 | ||||||
| GALNS | 13 | 42,000 | 67% | 565 | 87% | |
| GLB1 | 4 | 53,000 | 83% | 800 | 87% | |