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Cited by 600

The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.

Sequence-specific error profile of Illumina sequencers

Open access
Nakamura, Kensuke, Oshima, Taku, Morimoto, Takuya, Ikeda, Shun, Yoshikawa, Hirofumi, Shiwa, Yuh, Ishikawa, Shu, Linak, Margaret C., Hirai, Aki, Takahashi, Hiroki, Altaf-Ul-Amin, Md., Ogasawara, Naotake, Kanaya, Shigehiko·2011·Nucleic Acids Research

Abstract

We identified the sequence-specific starting positions of consecutive miscalls in the mapping of reads obtained from the Illumina Genome Analyser (GA). Detailed analysis of the miscall pattern indicated that the underlying mechanism involves sequence-specific interference of the base elongation process during sequencing. The two major sequence patterns that trigger this sequence-specific error (SSE) are: (i) inverted repeats and (ii) GGC sequences. We speculate that these sequences favor dephasing by inhibiting single-base elongation, by: (i) folding single-stranded DNA and (ii) altering enzyme preference. This phenomenon is a major cause of sequence coverage variability and of the unfavorable bias observed for population-targeted methods such as RNA-seq and ChIP-seq. Moreover, SSE is a potential cause of false single-nucleotide polymorphism (SNP) calls and also significantly hinders de novo assembly. This article highlights the importance of recognizing SSE and its underlying mechanisms in the hope of enhancing the potential usefulness of the Illumina sequencers.

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Metadata

Authors
Nakamura, K., Oshima, T., Morimoto, T., Ikeda, S., Yoshikawa, H., Shiwa, Y., Ishikawa, S., Linak, M. C., Hirai, A., Takahashi, H., Altaf-Ul-Amin, M., Ogasawara, N., & Kanaya, S.
Venue
Nucleic Acids Research
Published
2011-05-14
Volume
39
Issue
13
Pages
e90-e90
ISSN
  • 0305-1048 (ISSN-L)
  • 1362-4962
OpenAlex
W2087464200
Cited by
600
References
10
FWCI
22.69
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Sequence-specific error profile of Illumina sequencers. https://app.cochat.ai/papers/10.1093/nar/gkr344
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Nakamura, K., Oshima, T., Morimoto, T., Ikeda, S., Yoshikawa, H., Shiwa, Y., Ishikawa, S., Linak, M. C., Hirai, A., Takahashi, H., Altaf-Ul-Amin, M., Ogasawara, N., & Kanaya, S. (2011). Sequence-specific error profile of Illumina sequencers. Nucleic Acids Research. https://doi.org/10.1093/nar/gkr344

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