Additional file 7: of MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy

MitoRS output file for the pure and mixed B6D2F1 and NMRI samples sequenced for the benchmark of mitoRS accuracy and sensitivity. Tab1: Raw MitoRS output for the mouse mtDNA mixtures. Samples are named based on the theoretical mixture ratio (% B6D2F1 DNA) and replicates (A, B, or C) for a total of 36 samples analyzed. Column headers are detailed in the Additional files 14: Table S1 legend. Data from the 36 samples are populated in consecutive columns. Tab2: List of variants identified from unmixed mouse B6D2F1 and NMRI mtDNA. All NMRI and B6D2F1 mtDNA positions for which a variant was identified compared to the mouse mtDNA reference are listed. Pos: position in the mtDNA, Freq: variant frequency, SD: standard deviation within the three replicates, p-value: VarScan calculated p-value, Ref: Nucleotide from the reference genome, Var: Alternative nucleotide identified by VarScan, Cons: Consensus nucleotide kept by VarScan, Type: type of variant (highlighted with a color code). Tab3: SNV frequencies from the different mixtures. For the 12 mouse mtDNA mixture ratios tested, the frequencies measured for each SNV (88 in total) were evaluated. Values are actually the average of the three replicate runs. The eight positions showing a systematic frequency underestimation are highlighted in blue. Tab4: Indel frequencies from the different mixtures. For the 12 mouse mtDNA mixture ratios tested, the frequencies measured for the two indels were evaluated (positions 5’204 and 9’820). Data obtained from the triplicate, and corresponding averages and standard deviations are shown. (XLSX 61996 kb)