Table 2.
Variants distribution used in this study
| Panel | Sequence chemistry | Sample | Gene | Variant | SNV | indel |
|---|---|---|---|---|---|---|
| HCa | HiSeq2500 | 110 | 8 | 114 | 67 | 47 |
| HC | BGISEQ‐500 | 216 | 10 | 223 | 119 | 104 |
| HD | HiSeq2500 | 662 | 73 | 1,125 | 842 | 283 |
| HD | BGISEQ‐500 | 291 | 8 | 507 | 416 | 91 |
| 4.8M | HiSeq2500 | 1,328 | 231 | 1,882 | 1,471 | 411 |
| 4.8M | BGISEQ‐500 | 134 | 5 | 184 | 152 | 32 |
| C2181 | HiSeq2500 | 1,584 | 295 | 2,042 | 1,553 | 489 |
| C2181 | BGISEQ‐500 | 523 | 32 | 669 | 508 | 161 |
| Exo | HiSeq2500 | 154 | 203 | 379 | 368 | 11 |
| Exo | BGISEQ‐500 | 188 | 180 | 476 | 460 | 16 |
| Total | 5,190 | 1,045 | 7,601 | 5,956 | 1,645 |
a
HC, panel for hereditary cancer; HD, panel for hereditary deafness; 4.8M and C2181, two panels for Mendelian disease; Exo, human exome.