Table 2. Overview of NGS data production.
| Family samples | FAT–1 | FAT–2 | FAT–3 |
|---|---|---|---|
| Raw reads (mapped to hg19) | 13364918 | 19035012 | 22369564 |
| Reads Length (bp) | 90 | 90 | 90 |
| Capture specificity (%) | 66.3% | 64.1% | 65.9% |
| Bases mapped to genome (Mb) | 1202.84 | 1713.15 | 2013.26 |
| Average raw coverage (%) | 99.34% | 98.90% | 99.52% |
| Effective exons coverage (%) | 99.43% | 99.00% | 99.57% |
| Mean depth of targeted region (X) | 168.10 | 231.64 | 280.05 |
| Total number of variants | 10981 | 13222 | 12426 |
| Total number of indels | 1843 | 2472 | 2320 |
| Number of variants in SNP database | 10298 | 12199 | 10987 |