Table 5. The summary statistics for two sequenced affected subjects.
| Parameters | III-13 | III-4 |
|---|---|---|
| Target enrichment kit | CUHK-HL V1 | SureSelect 50Mb |
| Total yield of raw sequence reads (Gbp) | 0.837 | 19.58 |
| Percent of aligned reads | 98.7% | 96.3% |
| Percent of duplicated reads | 15.8% | 30.7% |
| Mean depth of coverage on the targeted regionsa | 95.6 × | 110.86 × |
| Mean depth of coverage on the mtDNA | 14 479.2 | 131.3 |
| Percent of target bases covered at >=1 × | 92.8% | 96.3% |
| Percent of target bases covered at >=10 × | 83.1% | 89.9% |
| Percent of target bases covered at >= 20 × | 76.3% | 81.0% |
| Percent of target bases covered at >= 30 × | 71.0% | 72.5% |
| Mean depth of coverage on the NSHL gene regions | 83.5 × | 119.9 × |
| Percent of the NSHL gene regions covered at >=10 × | 85.3% | 90.6% |
| Percent of the NSHL gene regions covered at >=20 × | 74.9% | 83.6% |
| Percent of the NSHL gene regions covered at >=30 × | 67.3% | 76.2% |
Abbreviations: Gbp, giga base pair.
a
We did not include the mtDNA in calculating the average depth. If the mtDNA target of the CUHK-HL V1 kit were included, the mean target depth for B-3 would be 213.6 × ; and the coverage proportions at 10 × , 20 × and 30 × would be slightly increased to 83.3%, 76.5% and 71.3%, respectively.