Fig. 3: Multiple mtDNA deletions in a clinical sample.

a, b Circos plot of the lrPCR products of sample AW6506 showing three full-length lrPCR amplicons – two deletions and wild type, sequenced by Illumina short-read (a) and ONT long-read (b) instruments. White arrows at positions m.2120 and m.2119 represent forward and reverse primers, respectively. c–e Circos plots of sample AW6506 targeted with the Cas9-mtDNA-enrichment sequenced on a GridIon flow cell showing three populations of mtDNA. c Targeted with the gRNA mt3 (m.3127), all three populations can be observed – two deletions and the wild type; d gRNA mt5 (m.5142) results in two populations – the small deletion and the wild type; e gRNA mt11 (m.11239) results in capturing the wild-type population only. In the circos plots, the reference circle colours denote genes encoding protein subunits of complex I (green), III (sky blue), IV (royal blue), V (light steel blue), ribosomal RNAs (ocean blue), transfer RNAs (ivory), and non-coding region D-loop (grey). f Summary of mean coverage of selected full-length reads and SV proportions in lrPCR amplicons, sequenced on Illumina and GridIon, and Cas9-mtDNA-enriched native molecules, sequenced on GridIon. Source data are provided as a Source Data file.