Table 5.
Artificial mosaicism detection frequencies obtained with NGS experiment (Low coverage sequencing run and high coverage sequencing run)
| ID | Mutation type | Diluiton (%) | Variant Coverage | Variant call (%) | False positive (%) | Variant Coverage | Variant call (%) | False Positive (%) |
| 22 | c.2359C > T | 10.00 % | 35 | 7.00 % | Not calculated | 571 | 6.00 % | Not calculated |
| 5.00 % | 24 | 5.00 % | Not calculated | 220 | 4.00 % | Not calculated | ||
| 1.00 % | 7 | 2.00 % | 0.00 % | 239 | 2.97 % | 0.01 % | ||
| ID | Mutation type | Diluiton (%) | Variant Coverage | Variant call (%) | Error insertions (%) | Variant Coverage | Variant call (%) | Error insertions (%) |
| 4 | c.274insT | 10.00 % | 163 | 9.00 % | Not calculated | 2946 | 10.4 % | Not calculated |
| 5.00 % | 60 | 6.25 % | Not calculated | 707 | 5.8 % | Not calculated | ||
| 1.00 % | 1 | 2.00 % | 0.00 % | 9 | 1.60 % | 0.00 % | ||
| ID | Mutation type | Diluiton (%) | Variant Coverage | Variant call (%) | Error deletions (%) | Variant Coverage | Variant call (%) | Error deletions (%) |
| 7 | c.837_841delGAACA | 10.00 % | 35 | 4.76 % | Not calculated | 503 | 6.1 % | Not calculated |
| 5.00 % | 30 | 3.6 % | Not calculated | 298 | 2.97 % | Not calculated | ||
| 1.00 % | 6 | 0.76 % | 0.00 % | 51 | 0.6 % | 0.02 % | ||
| c.843delG | 10.00 % | 37 | 5.00% | Not calculated | 508 | 6.1 % | Not calculated | |
| 5.00 % | 31 | 3.7 % | Not calculated | 299 | 2.98 % | Not calculated | ||
| 1.00 % | 6 | 0.76 % | 0.00 % | 49 | 0.6 % | 0.00 % |
Variant call % and error % here reported have been filtered for Qscore > 30