MAGERI: Computational pipeline for molecular-barcoded targeted resequencing
Fig 2
MAGERI software benchmark using Tru-Q 7 reference standard and control donor DNA.
a Number of detected variant for each variant frequency tier across two independent experiments with the reference standard. Shaded areas show the 95% confidence intervals for expected fraction of recovered variants, i.e. binomial proportion confidence intervals built using known variant frequency and template coverage. b Frequency distribution of known Tru-Q 7 variants coming from each frequency tier and errors in the control donor DNA. c MAGERI Q score and the empirical P-values of erroneous variants detected in control donor DNA. d Comparison of Q score distribution of erroneous variants and variants of each frequency tier. Dotted and dashed lines show P < 0.05 and P < 0.01 thresholds respectively. e Receiver operation characteristic (ROC) curve comparing the sensitivity and specificity of MAGERI Q scores (blue line) and frequency-based thresholding (red line) in the task of classification of errors and 0.1% tier variants.