Fig 1.
Extreme deep sequencing in trios with discordant paternal and maternal mitochondrial DNA.
(a) Position of the discordant haplotypes on the mitochondrial genome. Thick horizontal bars show the position of the PCR amplicons. (b) Average sequencing depth +/- 95% confidence intervals for the two amplicons in all four trios. (c) Population variant allele frequencies for the two amplicons, indicating position of motif variants.
Table 1.
Frequency of rare haplotypes in trios with discordant paternal and maternal mitochondrial DNA.
Fig 2.
Power to detect paternally transmitted mtDNA in the children studied here based on the observed ultra-deep mtDNA sequence data.
Calculations are based on the comparison of two Poisson distributions as described by Skellam [25], assuming the same mtDNA fold coverage in mothers and offspring (see text for a full description of the methods). Each graph shows the power to detect a paternal contribution to the mtDNA in the offspring of the trios studied here based for different degrees of ultra-deep sequencing coverage, and for different background levels of mtDNA heteroplasmy seen in the mothers, which in this study were 4.3 x 10–5, 6.0 x 10–5, 5.7 x 10–5, and 7.6 x 10–5.