Table 1.
Summary of whole exome sequencing and variant analysis
| Summary of whole exome sequencing data | |
|---|---|
| Subject | III:2 |
| Sequencing, read alignment and coverage | |
| Uniquely mapped reads with MAPQ > = 30 [N] | 558,548,129 |
| Fraction of targets covered > = 5x [%] | 98.35 |
| Fraction of targets covered > = 20x [%] | 93.45 |
| Overall mean sequencing depth [x] | 162.22 |
| Variant calling | |
| Total identified variants [N] | 46,457 |
| Known variants with MAF < 0.01 (dbSNP,ESP,ExAC) [N] | 1348 |
| Novel variants [N] | 482 |
| Heterozygous/non-reference homozygous ratio | 1.64 |
| Transition/transversion ratio | 2.65 |