Fig. 3: Independent variant detection using RNA-seq.
From: Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations
a The estimated FPR for each targeted panel and WTS results, restricted to panel regions. Various VAF cutoffs were applied for each panel and data type to achieve an FPR of 5. b Reproducibility measurements of targeted RNA-seq and WTS results, restricted in panel regions, after the FPR to 5 per million bases. c PPV estimates by panel (average), including WTS results within each panel region. The upper bound PPV was calculated by considering all unknown variants as true positives. Conversely, the lower bound PPV was obtained by treating all unknown variants as negatives. This approach provides a range of possible precision values, accounting for the uncertainty in RNA-unique variant classification. d Comparison of recall rates for targeted RNA-seq and WTS results after controlling the FPR to 5 per million bases. Recall is defined as the proportion of known positive variants successfully detected by each panel, highlighting performance differences across sequencing methods.
