Table 2 Analytic sensitivity, specificity and positive predictive value of EXaCT-1 vs. Benchmark data set

From: Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care

  Sensitivity (%) 95% CI Specificity (%) 95% CI PPV (%) 95% CI
NA12878-1 95.5 95.2–95.8 99.9995 99.9994–99.9996 99.2 99.0–99.3
NA12878–2 95.8 95.5–96.1 99.9994 99.9994–99.9995 99.1 98.9–99.2
  1. Sensitivity, TP/(TP+FN); Specificity, TN/(TN+FN); PPV, TP/(TP+FP).
  2. Abbreviations: CI, confidence interval; EXaCT-1, Exome Cancer Test v1.0; FP, false positive; FN, false negative; PPV, positive predictive value; TN, true negative; TP, true positive.