期刊论文Long read mitochondrial genome sequencing using Cas9-guided adaptor ligation复制

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AR Vandiver, B Pielstick, T Gilpatrick, AN Hoang…
Mitochondrion, 2022
Elsevier
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 …