Table 3.
Summary of whole exome sequencing statistics and genomic variants identified in the AF/HCM family by whole exome sequencing
| IV:2 | II:5 | II:2 | III:7 | |
|---|---|---|---|---|
| Enrichment statistics | ||||
| Enrichment fold relative to target size | 12.3023 | 12.8434 | 44.0718 | 45.1357 |
| Average Depth of Coverage within targets | 10.06 | 9.53 | 18.49 | 31.09 |
| Maximum Depth of Coverage within targets | 684 | 468 | 862 | 1639 |
| Number of target regions with no coverage | 4014 | 4086 | 4078 | 3767 |
| Target Bases Not Covered | 2668624 | 2712504 | 2145842 | 1821752 |
| Percent of Target Bases Not Covered | 7.16% | 7.28% | 5.76% | 4.89% |
| Percent of target bp covered at >= 1X | 92.84% | 92.72% | 94.24% | 95.11% |
| Percent of target bp covered at >= 5X | 69.70% | 67.70% | 82.02% | 89.05% |
| Percent of target bp covered at >= 10X | 41.25% | 38.73% | 63.66% | 78.71% |
| Percent of target bp covered at >= 20X | 12.56% | 11.16% | 35.12% | 56.78% |
| Genomic variants statistics | ||||
| Single nucleotide variants | ||||
| Total number of variants | 31213 | 31071 | 38207 | 42727 |
| Heterozygote | 14791 (47.39%) | 14650 (47.15%) | 20009 (52.37%) | 23921 (55.99%) |
| Homozygote | 16422 (52.61%) | 16421 (52.85%) | 18198 (47.63%) | 18806(44.01%) |
| SNP in dbSNP | 28017 (89.76%) | 27620 (88.89%) | 33958 (88.88%) | 38145 (89.28%) |
| Small indels | ||||
| Total number of variants | 1146 | 1198 | 1568 | 1866 |
| Heterozygote | 488 (42.58%) | 511 (42.65%) | 767 (48.92%) | 1020 (54.66%) |
| Homozygote | 658 (57.42%) | 687 (57.35%) | 801 (51.08%) | 846(45.34%) |
| SNP in dbSNP | 941 (82.11%) | 970 (80.97%) | 1263 (80.55%) | 1479 (79.26%) |