Table 1.
Summary of WES Statistics for Five CHIME Syndrome Cases
|
Individual |
Average | |||||
|---|---|---|---|---|---|---|
| 680-2-2 | 680-2-3 | 682-2-1 | 665-3-1 | 3988 | ||
| Total number of sequenced reads | 53,341,240 | 54,687,243 | 47,134,146 | 117,769,811 | 121,450,190 | 78,876,526 |
| Total number of unmapped reads (%) | 1,257,149 (2.4%) | 765,214 (1.4%) | 738,306 (1.6%) | 934,246 (0.8%) | 988,578 (0.8%) | 936,699 (1.2%) |
| Total number of mapped reads | 52,084,091 | 53,922,029 | 46,395,840 | 116,835,565 | 120,461,612 | 77,939,827 |
| Percentage Targets with 10× coverage | 78 | 88 | 85 | 88 | 95 | 87 |
| Percentage Targets with 20× coverage | 43 | 65 | 59 | 79 | 89 | 67 |
| Total NS-SS-Indels | 10,022 | 12,211 | 11,921 | 15,614 | 12,978 | 12,549 |
| Novel NS-SS-Indels | 2,338 | 3,211 | 3,181 | 7,173 | 2,966 | 3,774 |