Fig. 4

Benchmarking MitoRS accuracy and sensitivity. a SNV detection is accurate over the whole range of frequencies. Total DNA extracted from two mouse strains was mixed at different ratios and run through the pipeline. The measured frequency of the 88 homoplasmic SNV distinguishing the mtDNA from the two strains are plotted versus the calculated ratio from the input mixture. Red dots correspond to the mean frequency calculated from the 88 variants, internal blue bars show the 25th and 75th quartile, and extremal grey bars the minimum and maximum variant frequency observed for a given ratio. The correlation factor and the slope of the linear regression are shown on the graph. Three independent input mixtures were run for each theoretical ratio. The insert panel is a zoom on the low frequency ratios. b Indels analysis is also accurate. Same graph as in A., but considering only the two indel positions distinguishing the mtDNA from the two strains. The insert panel is a zoom on the low frequency ratios. Results are calculated as the average and standard deviation of the three independent RCA reactions performed for each ratio