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Updated: Mar 12, 2026

Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA
Published on: November 14, 2017
Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII
Rolf H A M Vossen1, Henk P J Buermans2
1Department of Human Genetics; Leiden Genome Technology Center, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands. r.vossen@lumc.nl.
Abstract:
Conventional mitochondrial-DNA (MT DNA) sequencing approaches use Sanger sequencing of 20-40 partially overlapping PCR fragments per individual, which is a time- and resource-consuming process. We have developed a high-throughput, accurate, fast, and cost-effective human MT DNA sequencing approach. In this setup we first generate long-range PCR products for two partially overlapping 7.7 and 9.2 kb MT DNA-specific amplicons, add sample-specific barcodes, and sequence these on the PacBio RSII system to obtain full-length MT DNA sequences for genotyping/haplotyping purposes.
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