Table 1. Overview of whole-exome sequencing data production.
| Exome capture statistics | III-12 (Proband) | III-10 (Unaffected) | III-4 (Affected) | IV-7 (Affected) |
| 1Target region (bp) | 51339787 | 51391525 | 51339787 | 51391525 |
| Raw reads | 133565546 | 147779980 | 136823886 | 140113624 |
| Raw data yield (Mb) | 12021 | 13300 | 12314 | 12610 |
| Reads mapped to genome | 118841720 | 129869013 | 119724061 | 122370094 |
| 2Reads mapped to target region | 57175597 | 66226757 | 63991407 | 62336567 |
| Data mapped to target region (Mb) | 4440.09 | 5159.21 | 4981.38 | 4850.57 |
| Mean depth of target region (×) | 86.48 | 100.39 | 97.03 | 94.38 |
| Coverage of target region (%) | 99.73 | 99.72 | 99.72 | 99.69 |
| Average read length (bp) | 89.95 | 89.97 | 89.94 | 89.93 |
| Rate of nucleotide mismatch (%) | 0.22 | 0.18 | 0.22 | 0.23 |
| Fraction of target covered ≥4× (%) | 99.30 | 99.35 | 99.32 | 99.26 |
| Fraction of target covered ≥10× (%) | 98.27 | 98.50 | 98.45 | 98.31 |
| Fraction of target covered ≥20× (%) | 95.45 | 96.24 | 96.10 | 95.75 |
| 3Capture specificity (%) | 48.93 | 52.08 | 54.32 | 51.92 |
| 4Reads mapped to flanking region | 9072073 | 9020405 | 9210197 | 8861715 |
| Mean depth of flanking region (×) | 20.97 | 22.39 | 22.24 | 21.54 |
| Coverage of flanking region (%) | 98.92 | 98.67 | 98.75 | 98.59 |
| Fraction of flanking covered ≥4× (%) | 91.19 | 89.02 | 90.10 | 89.20 |
| Fraction of flanking covered ≥10× (%) | 66.13 | 63.98 | 65.45 | 64.00 |
| Fraction of flanking covered ≥20× (%) | 39.15 | 40.16 | 40.49 | 39.22 |
| Fraction of unique mapped bases on or near target (%) | 56.14 | 58.73 | 61.64 | 58.83 |
| 5Duplication rate (%) | 6.80 | 9.41 | 8.49 | 8.39 |
| Mean depth of chrX (×) | 96.40 | 58.22 | 107.72 | 54.62 |
| Mean depth of chrY (×) | - | 55.05 | - | 53.52 |
| GC rate (%) | 45.46 | 45.92 | 46.14 | 45.50 |
| Gender test result | F | M | F | M |
1Target regions refer to the regions that are actually covered by the designed probes; 2Reads mapped to target regions are reads that are within or overlap with the target region; 3Capture specificity is defined as the percentage of uniquely mapped reads aligning to the target region; 4Flanking region refers to regions ±200 bp on both sides of each target region; 5PCR duplicates would have the same start and end for both mates, which rarely occurs by chance. Duplication rate is the fraction of duplicated reads in the raw data.