Fig. 7

Classification of variant calls per dataset. The counts for true positive and false positive detections are shown for all three test datasets. For all subplots, a black outline shows the variants validated as true positives (ground truth). Of these, the number of detected true positives for the appreci8 reference and AMLVaran’s results are visualized as blue bars. A horizontal line indicates the number of variants that overlap in both pipelines. Further to the right side, the number of false positive calls from appreci8 and AMLVaran is displayed in red. False positives reported concordantly by both pipelines are indicated by a darker shade of color. a MDS-1: n=237, #Mut=417, #TruePos=407, #FalsePos=28, Sens=0.9760, PPV=0.9563. b MDS-2: n=46, #Mut =89, #TruePos =89, #FalsePos =8, Sens =1.0000, PPV =0.9175. c AML-1: n=119, #Mut =586*, #TruePos =422 (*) no biological validation data available