Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frías-López, Marc Dabad, Raúl Tonda, Ida Paramonov, Matthew Ingham, Isabelle Brun Heath, Jordi Leno-Colorado, Anna Abulí, Elena García‐Arumí, Simon Charles Heath, Marta Ortova Gut, Ivo Glynne Gut
This paper introduces a method to sequence full-length human mitochondrial genomes using Cas9 and long-read sequencing, enabling accurate detection of heteroplasmy and deletion patterns.
Nature Communications · Oct 6, 2022Peer-reviewedGenomics