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Extreme deep sequencing in trios with discordant paternal and maternal mitochondrial DNA.

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posted on 2015-05-14, 03:39 authored by Angela Pyle, Gavin Hudson, Ian J. Wilson, Jonathan Coxhead, Tania Smertenko, Mary Herbert, Mauro Santibanez-Koref, Patrick F. Chinnery

(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.

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