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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Published

Author(s)

Justin M. Zook, Nathanael D. Olson, Aaron Wenger

Abstract

The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (PacBio) and generate highly accurate (99.8%) long high-fidelity (HiFi) reads with an average length of 13.5 kilobases (kb). We applied our approach to sequence the well-characterized human HG002/NA24385 genome and obtained precision and recall rates of at least 99.91% for single-nucleotide variants (SNVs), 95.98% for insertions and deletions 15 megabases (Mb) and concordance of 99.997%, substantially outperforming assembly with less-accurate long reads.
Citation
Nature Biotechnology
Volume
37

Keywords

human genome, DNA sequencing, genomics
Created August 12, 2019, Updated October 8, 2019