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. 2012 Dec 19;21(8):864–870. doi: 10.1038/ejhg.2012.270

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:

a

filter 1: insertion or deletion covered by the BRCA HP assay.

b

filter 2: coverage below 38, to variants retained by filter 1.

c

filter 3: variant allele frequency below 0.25, to variants retained by filters 1 and 2.

d

filter 4: variant forward coverage or variant reverse coverage equal to 0, to variants retained by filters 1, 2, and 3.

e

filter 5: variant forward quality and variant reverse quality below 30, to variants retained by filters 1, 2, and 3.

f

filter 6: total variant quality below 30, to variants retained by filters 1, 2, and 3.