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bioRxiv · 10.1101/2022.02.23.480720

Long read mitochondrial genome sequencing using Cas9-guided adaptor ligation

Vandiver, A. R.·Pielstick, B.·Gilpatrick, T.·Hoang, A.·Vernon, H.·Wanagat, J.·Timp, W.
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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.

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Vandiver, A. R., Pielstick, B., Gilpatrick, T., Hoang, A., Vernon, H., Wanagat, J., Timp, W.. 2022-02-24. Long read mitochondrial genome sequencing using Cas9-guided adaptor ligation. https://doi.org/10.1101/2022.02.23.480720

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