Table 1.
Sequencing results
Patient | 10× cov (%) | Mean cov | Yield (Gb) | Q30 | MeanQ | Filtered var | CHAMP1 mean CDS cov | Var total fam cov | Samples | Mean per-sample var cov |
---|---|---|---|---|---|---|---|---|---|---|
1 | 98.80 | 167 | 12.3 | 91 | 35 | 4597 | 302 | 2053 | 3 | 684 |
2 | 99.14 | 184 | 14.1 | 93 | 36 | 4652 | 313 | 1157 | 3 | 386 |
3 | 96.33 | 157 | 11.3 | 90 | 35 | 4310 | 239 | 238 | 2 | 119 |
Mean | 98.82 | 169 | 12.6 | 91 | 36 | 4520 | 285 | 1149 | 3 | 431 |
Results from individuals identified at GeneDx.
cov, coverage; CDS, coding sequence; var, variant; fam, family.