Long read mitochondrial genome sequencing using Cas9-guided adaptor ligation.

ABSTRACT: The mitochondrial genome (mtDNA) is an important source of disease-causing genetic variability, but existing sequencing methods limit understanding, precluding phased measurement of mutations and clear detection of large sporadic deletions. We adapted a method for amplification-free sequence enrichment using Cas9 cleavage to obtain full length nanopore reads of mtDNA. We then utilized the long reads to phase mutations in a patient with an mtDNA-linked syndrome and demonstrated that this method can map age-induced mtDNA deletions. We believe this method will offer deeper insight into our understanding of mtDNA variation.

SUBMITTER: Vandiver AR 

PROVIDER: S-EPMC9399971 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature