Table 2 Metrics of whole-exome sequencing (WES) analysis of the specimens from the proband and his relatives entering into the present study
Metric | III.2 Proband’s blood sample | III.2 Proband’s normal colon tissue | III.2 Proband’s CRC tissue | II.1 Father’s blood sample | II.2 Mother’s blood sample | II.3 Aunt’s blood sample | III.3 Cousin’s blood sample |
|---|---|---|---|---|---|---|---|
Total reads | 801,798,464 | 631,026,099 | 631,377,353 | 633,336,574 | 98,744,957 | 98,744,957 | 397,006,863 |
Mapped reads | 481,096,544 | 350,445,297 | 434,605,056 | 330,283,413 | 66,488,953 | 73,450,351 | 243,481,688 |
On-target reads | 266,671,188 | 185,116,968 | 217,278,894 | 237,886,825 | 47,482,595 | 65,141,598 | 142,790,642 |
% mapped reads | 60.0 | 55.5 | 68.8 | 52.2 | 26.8 | 74.4 | 61.3 |
% on-target reads | 55.4 | 52.8 | 50.0 | 72.0 | 71.4 | 88.7 | 58.7 |
% covered target reads | 96.7 | 92.6 | 91.6 | 94.9 | 86.7 | 88.6 | 94.9 |
Average depth coverage | 288.6 | 200.3 | 235.1 | 257.4 | 51.4 | 70.5 | 154.5 |