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

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

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%.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2022-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-022-33530-3

Internet

https://doi.org/10.1038/s41467-022-33530-3

Similar Items