Nature Communications (Oct 2022)
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
Abstract
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%.