Table 2. Cumulative application of filters.
1a: Ins/del BRCA HP |
1→2b: Cov<38 |
(1+2)→3c: VAF<0.25 |
(1+2+3)→4d: Fcov=0 or Rcov=0 |
(1+2+3)→5
e: FQ<30 & RQ<30 |
(1+2+3)→6f: Total Q <30 |
||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Before filters | In | Out | In | Out | In | Out | In | Out | In | Out | In | Out | |
Training Set | |||||||||||||
FP | 4037 | 2307 | 1730 | 2210 | 97 | 512 | 1698 | 9 | 503 | 228 | 284 | 227 | 285 |
TP | 223 | 212 | 11 | 202 | 10 | 202 | 0 | 200 | 2 | 201 | 1 | 200 | 2 |
Sensitivity | 0.951 | 0.953 | 1.000 | 0.990 | 0.995 | 0.990 | |||||||
Specificity | 0.429 | 0.042 | 0.769 | 0.982 | 0.555 | 0.557 | |||||||
Validation Set | |||||||||||||
FP | 1471 | 872 | 599 | 872 | 0 | 168 | 704 | 3 | 165 | 59 | 109 | 59 | 109 |
TP | 123 | 122 | 1 | 122 | 0 | 122 | 0 | 121 | 1 | 122 | 0 | 122 | 0 |
Sensitivity | 0.992 | 1.000 | 1.000 | 0.992 | 1.000 | 1.000 | |||||||
Specificity | 0.407 | 0.000 | 0.807 | 0.982 | 0.649 | 0.649 |
Variants retained (In) and discarded (Out) by the application of:
filter 1: insertion or deletion covered by the BRCA HP assay.
filter 2: coverage below 38, to variants retained by filter 1.
filter 3: variant allele frequency below 0.25, to variants retained by filters 1 and 2.
filter 4: variant forward coverage or variant reverse coverage equal to 0, to variants retained by filters 1, 2, and 3.
filter 5: variant forward quality and variant reverse quality below 30, to variants retained by filters 1, 2, and 3.
filter 6: total variant quality below 30, to variants retained by filters 1, 2, and 3.