mito-overview: a mitochondrial report software

mito-overview integrates mitochondrial coverage, allele fractions, genomic annotation, and long-read co-occurrence to quantify shared read support, exemplified by m.8860A>G and m.14831G>A together in all 366 jointly callable query names.

• Why it matters: Interpreting mitochondrial DNA variation requires linking allele representation and annotation to the sequencing evidence per sample, including how alleles co-occur on the same long reads.
• What they did: The software was applied to GM12878 Cas9-enriched full-length mitochondrial genomes (SRR18110025), identifying 16 candidate variants and using co-occurrence analysis across jointly callable query names.
• The result: Co-occurrence showed m.8860A>G and m.14831G>A occurred together in all 366 jointly callable query names, extending single-allele measurements to shared read support between mitochondrial sites.