The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Hybrid error correction and de novo assembly of single-molecule sequencing reads
Open accessAbstract
Single-molecule sequencing instruments can generate multikilobase sequences with the potential to greatly improve genome and transcriptome assembly. However, the error rates of single-molecule reads are high, which has limited their use thus far to resequencing bacteria. To address this limitation, we introduce a correction algorithm and assembly strategy that uses short, high-fidelity sequences to correct the error in single-molecule sequences. We demonstrate the utility of this approach on reads generated by a PacBio RS instrument from phage, prokaryotic and eukaryotic whole genomes, including the previously unsequenced genome of the parrot Melopsittacus undulatus, as well as for RNA-Seq reads of the corn (Zea mays) transcriptome. Our long-read correction achieves >99.9% base-call accuracy, leading to substantially better assemblies than current sequencing strategies: in the best example, the median contig size was quintupled relative to high-coverage, second-generation assemblies. Greater gains are predicted if read lengths continue to increase, including the prospect of single-contig bacterial chromosome assembly.
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<tt>BLAT</tt> —The <tt>BLAST</tt> -Like Alignment Tool
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Versatile and open software for comparing large genomes
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Self-citationDe novo assembly of human genomes with massively parallel short read sequencing
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“The baseline SOAPdenovo assembly (purple star) represents an assembly of 50× of real 76-bp Illumina paired-end (300 bp) reads from S. cerevisiae S228c.”
MethodStrong association of de novo copy number mutations with autism
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Stimulus-transcription coupling in neurons: role of cellular immediate-early genes
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“Lastly, the published zebra finch and chicken assemblies both contain gaps ~700 bp upstream of ERG1 , a major immediate-early gene that connects external stimuli to transcription in neurons 39,40 .”
BackgroundEvolution at Two Levels: On Genes and Form
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Cited by
Assembly of long, error-prone reads using repeat graphs
Kolmogorov, M., Yuan, J., Lin, Y., & Pevzner, P. A. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0072-8 · Cited by 5,986
Coming of age: ten years of next-generation sequencing technologies
Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.49 · Cited by 4,352
Self-citationNonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
Chin, C.-S., Alexander, D. H., Marks, P., Klammer, A. A., Drake, J., Heiner, C., Clum, A., Copeland, A., Huddleston, J., Eichler, E. E., et al. (2013) · Nature Methods · doi:10.1038/nmeth.2474 · Cited by 4,029
PacBio Sequencing and its Applications
Rhoads, A., & Au, K. F. (2015) · Genomics, Proteomics & Bioinformatics · doi:10.1016/j.gpb.2015.08.002 · Cited by 2,135
Characterizing and measuring bias in sequence data
Ross, M. G., Russ, C., Costello, M., Hollinger, A., Lennon, N. J., Hegarty, R., Nusbaum, C., & Jaffe, D. B. (2013) · Genome Biology · doi:10.1186/gb-2013-14-5-r51 · Cited by 909
Metadata
- Authors
- Koren, S., Schatz, M. C., Walenz, B. P., Martin, J., Howard, J. T., Ganapathy, G., Wang, Z., Rasko, D. A., McCombie, W. R., Jarvis, E. D., & Phillippy, A. M.
- Venue
- Nature Biotechnology
- Published
- 2012-07
- Volume
- 30
- Issue
- 7
- Pages
- 693-700
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- OpenAlex
- W2157888653
- Cited by
- 1,011
- References
- 9
- FWCI
- 32.06
- Type
- journal article
- Language
- en
- Open access
- green
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- Koren, S., Schatz, M. C., Walenz, B. P., Martin, J., Howard, J. T., Ganapathy, G., Wang, Z., Rasko, D. A., McCombie, W. R., Jarvis, E. D., & Phillippy, A. M. (2012). Hybrid error correction and de novo assembly of single-molecule sequencing reads. Nature Biotechnology. https://doi.org/10.1038/nbt.2280
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