Table 2 Sequencing results
| Â | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
|---|---|---|---|---|---|
Number of NGS runs | 1 | 1 | 1 | 2 | 2 |
454 experiment | Standard 1/3 run | Standard 1/3 run | Standard 1/3 run | Standard 1/5 Titanium 1/12 | Standard 1/5 Titanium 1/12 |
Mapped reads | 127980 | 96538 | 111492 | 24940* (Std) 24192* (Tit) | 16767* (Std) 40169* (Tit) |
Total average coverage | 221 | 168 | 194 | 73* | 88* |
% sequenced amplicons with coverage > 38 | 94.4 | 93.2 | 96.3 | 80.3 | 85.3 |
% sequenced amplicons with coverage > 30 | 95.3 | 94.6 | 97.2 | 86.8 | 91.5 |
% sequenced amplicons with coverage > 5 | 97.2 | 97.2 | 99.0 | 94.6 | 96.3 |
Mutations | New mutation found in CDH23 | New mutation found in CDH23 | No mutation could be clearly identified | New mutation found in OTOF | Known mutation in TMC1 confirmed |