Nature Communications (Oct 2022)

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

  • Ieva Keraite,
  • Philipp Becker,
  • Davide Canevazzi,
  • Cristina Frias-López,
  • Marc Dabad,
  • Raúl Tonda-Hernandez,
  • Ida Paramonov,
  • Matthew John Ingham,
  • Isabelle Brun-Heath,
  • Jordi Leno,
  • Anna Abulí,
  • Elena Garcia-Arumí,
  • Simon Charles Heath,
  • Marta Gut,
  • Ivo Glynne Gut

DOI
https://doi.org/10.1038/s41467-022-33530-3
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 12

Abstract

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Accurate analysis of mitochondrial DNA is important for mitochondrial disease clinical research and diagnostics. Here, authors present a method using Cas9 cleavage, nanopore sequencing and a custom pipeline to identify pathogenic variants, deletions and accurately quantify heteroplasmy to below 1%.