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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
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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 <50 bp (indels) and 95.99% for structural variants. Our CCS method matches or exceeds the ability of short-read sequencing to detect small variants and structural variants. We estimate that 2,434 discordances are correctable mistakes in the 'genome in a bottle' (GIAB) benchmark set. Nearly all (99.64%) variants can be phased into haplotypes, further improving variant detection. De novo genome assembly using CCS reads alone produced a contiguous and accurate genome with a contig N50 of >15 megabases (Mb) and concordance of 99.997%, substantially outperforming assembly with less-accurate long reads.
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“more than two-thirds of SVs have been missed in studies that used short-read data and the human reference assembly6–8”
From A draft human pangenome reference. (2023) · cites this paper as [7]
Experimental — accuracy not yet measuredIn the citing paper
“Recent technological advances by PacBio have enabled circular consensus sequencing of both RNA and DNA, resulting in long (>10 kb), highly accurate (99.8%) reads (136).”
From Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases (2019) · cites this paper as [136]
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Metadata
- Authors
- Wenger, A. M., Peluso, P., Rowell, W. J., Chang, P.-C., Hall, R. J., Concepcion, G. T., Ebler, J., Fungtammasan, A., Kolesnikov, A., Olson, N. D., Töpfer, A., Alonge, M., Mahmoud, M., Qian, Y., Chin, C.-S., Phillippy, A. M., Schatz, M. C., Myers, G., DePristo, M. A., Ruan, J., Marschall, T., Sedlazeck, F. J., Zook, J. M., Li, H., Koren, S., Carroll, A., Rank, D. R., & Hunkapiller, M. W.
- Affiliations
- Pacific Biosciences (United States) (US)
- Google (United States) (US)
- Max Planck Institute for Informatics (DE)
- DNAnexus (United States) (US)
- National Institute of Standards and Technology (US)
- Johns Hopkins University (US)
- Baylor College of Medicine (US)
- National Institutes of Health (US)
- Agricultural Genomics Institute at Shenzhen (CN)
- Dana-Farber Cancer Institute (US)
- Corresponding author
- Rank, David R.
- Hunkapiller, Michael W.
- ORCID
- Wenger, Aaron M.
- Peluso, Paul
- Rowell, William J.
- Chang, Pi-Chuan
- Hall, Richard J.
- Concepcion, Gregory T.
- Ebler, Jana
- Fungtammasan, Arkarachai
- Kolesnikov, Alexey
- Olson, Nathan D.
- Töpfer, Armin
- Alonge, Michael
- Mahmoud, Medhat
- Chin, Chen-Shan
- Phillippy, Adam M.
- Schatz, Michael C.
- DePristo, Mark A.
- Ruan, Jue
- Marschall, Tobias
- Sedlazeck, Fritz J.
- Zook, Justin M.
- Li, Heng
- Koren, Sergey
- Carroll, Andrew
- Rank, David R.
- Hunkapiller, Michael W.
- Venue
- Nature Biotechnology
- Published
- 2019-08-12
- Volume
- 37
- Issue
- 10
- Pages
- 1155-1162
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC6776680
- OpenAlex
- W2968499116
- Cited by
- 1,841
- References
- 57
- Citations by year
- 2026: 246 · 2025: 300 · 2024: 326 · 2023: 275 · 2022: 261 · 2021: 241 · 2020: 133 · 2019: 56
- FWCI
- 60.58
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Nature Biotechnology (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Deutsche Forschungsgemeinschaft (391137747, 395192176)
- National Science Foundation (DBI-1350041)
- U.S. Department of Health & Human Services | National Institutes of Health (R01-HG006677, UM1 HG008898, 1R01HG010040)
- U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
- National Natural Science Foundation of China (31571353, 31822029)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- circular consensus sequencing, single-molecule real-time sequencing, PacBio HiFi reads, variant calling, structural variants, indels, single nucleotide variants, haplotype phasing, de novo genome assembly
- MeSH terms
- Base Sequence, DNA, Circular, Haplotypes, Humans, Genetic Variation, Genome, Human, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing
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