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Fig. 1 | BMC Genomics

Fig. 1

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

Fig. 1

Rolling circle amplification of mitochondrial DNA. a Rolling circle amplification significantly enriches the mitochondrial DNA versus nucDNA. Absolute quantification by qPCR was performed to evaluate the ratio between mtDNA and nucDNA with or without RCA. Copy numbers are calculated from standard curves. Results are shown in log10 scale. Standard deviation are calculated from three independent qPCR experiments, on the same sample for the non-amplified material, and from three independent RCA reactions for the amplified samples. mm: mus musculus, hs: homo sapiens. b Nuclear reads contamination (NUMTs) does not affect MitoRS. Sequencing reads generated from a human control cell line (143-B) or its mitochondria-free derivative (143-B-Rho0) were mapped against the human mtDNA reference (rCRS, NC_012920.1). The ratio of the absolute coverage (reported by mpileup) between the Rho and control cell line was calculated for each position of the reference genome and plotted. The two datasets are generated from the same total number of reads (~15 million). Note that these samples had to be sequenced 10 times more than the usual procedure because of too few mapping reads for the Rho0 sample

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