Table 2.
Sequencing quality statistics of exome capture for the proband sample (individual III:1)
| Parameter | Value |
| Total target exome region (bp) | 51 391 525 |
| Raw reads | 93 225 420 |
| Raw data yield (Mb) | 8390 |
| Reads mapped to genome | 72 489 626 |
| Reads mapped to target region1 | 55 230 353 (59.24%) |
| Data mapped to target region (Mb) | 4316.82 (51.45%) |
| Capture specificity2 (%) | 76.82 |
| Mean depth of target region (fold) | 84 |
| Mean depth of chromosome X (fold) | 48.24 |
| Mean depth of chromosome Y (fold) | 48.37 |
| Rate of nucleotide mismatch (%) | 0.17 |
| Fraction of target covered (%) | |
| ≥4-fold | 99.42 |
| ≥10-fold | 98.32 |
| ≥20-fold | 95.03 |
1
Reads mapped to target regions are reads that are within or overlap with the target region
2
Capture specificity is defined as the percentage of uniquely mapped reads aligning to the target region