Table 1 Whole exome sequencing detail of the probands in two families
Exome capture statistics | Proband in family 1 | Proband in family 2 |
|---|---|---|
Total (bp) | 69,442,952 (100.00%) | 69,799,104 (100%) |
Duplicate (bp) | 14,862,727 (21.40%) | 15,433,387 (22.11%) |
Mapped (bp) | 69,375,924 (99.90%) | 69,745,856 (99.92%) |
Properly mapped (bp) | 68,415,120 (98.52%) | 68,695,794 (98.42%) |
PE mapped (bp) | 69,315,566 (99.82%) | 69,703,330 (99.86%) |
SE mapped (bp) | 120,716 (0.17%) | 85,052 (0.12%) |
Initial bases on target (bp) | 60,456,963 | 60,456,963 |
Initial bases on or near target (bp) | 136,297,444 | 136,297,444 |
Total effective yield (Mb) | 10,368.49 | 10,423.95 |
Effective yield on target (Mb) | 7307 | 7573.99 |
Fraction of effective bases on target (%) | 70.47 | 72.66 |
Fraction of effective bases on or near target (%) | 89.99 | 92.24 |
Average sequencing depth on target | 121 | 125 |
Bases covered on target (bp) | 60,260,584 | 60,309,703 |
Coverage of target region (%) | 99.68 | 99.76 |
Fraction of target covered with at least 100 × (%) | 50.75 | 55.75 |
Fraction of target covered with at least 50 × (%) | 78.36 | 84.33 |
Fraction of target covered with at least 10 × (%) | 97.28 | 98.37 |
Total SNPs | 106,065 | 106,039 |
Novel SNPs | 653 | 654 |
Total InDels | 11,478 | 11,168 |
Novel InDels | 765 | 704 |
Gender | Male | Male |