Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

August 2019

Ahmed N. Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, Masataka Taguri, Atsushi Takata, Noriko Miyake, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumot

The genotypes of mitochondrial DNA variants are compared using both short-read (Illumina Hi-SeqX10) and long-read (PacBio Sequel) sequencing. DNA samples from three individuals with mitochondrial disease used for the study. The authors conclude that although long reads have higher error rates (though random) and short-read have higher accuracy (but with systemic errors), PacBio sequencing can overcome is error bias with 37 reads.

BluePippin was used to select >10kb SMRTbell libraries using the High-Pass protocol.

Author Affiliations:
Yokohama City University

Journal of Human Genetics
DOI: 10.1038/s10038-019-0654-9

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