Fig. 2

Receiver-operating characteristic space plots comparing variant calls. ROC space comparing variant calls upon a null interval padding, b 50 bp interval padding and c 100 bp interval padding for the entity of variants (top panel), divided to exonic SNVs (Ai/Bi/Ci), intronic SNVs (Aii/Bii/Cii), exonic indels (Aiii/Biii/Ciii) and intronic indels (Aiv/Biv/Civ). Sanger Sequencing was used as the gold standard to evaluate the accuracy of the calls. True and false positive rates were plotted in the Receiver Operating Characteristic (ROC) space. Each point corresponds to an instance of a confusion matrix. Labels correspond to perpendicular distance (d) values. FPR false positive rate, GATK Genome Analysis ToolKit, HC HaplotypeCaller, TPR true positive rate, UG UnifiedGenotyper. TPR and FPR stand for true positive and false positive rates. The “Random Guess” line is shown in red