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An Algorithm for the Automated Verification of DNA Supercontig Assemblies

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Part of the book series: Lecture Notes in Computer Science ((LNTCS,volume 3907))

Abstract

Genome sequencing has achieved tremendous progress over the last few years. However, along with the speedup of the process and an ever increasing volume of data there are continuing concerns about the quality of the assembled sequence. Many genomes have been sequenced only to a draft, leaving the data in a series of more–or–less organized scaffolds, and many feature a small, but not negligible number of misassembled pieces. In this paper we present a new method for automated flagging of potential trouble spots in large assembled supercontigs. It can be incorporated into existing quality control pipelines and lead to a considerable improvement in the sensitivity to certain types of errors.

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References

  1. Dunham, I., Shimizu, N., Roe, B., et al.: The DNA sequence of human chromosome 22. Nature 402, 489–495 (1999)

    Article  Google Scholar 

  2. Hattori, M., Fujiyama, A., Taylor, T., et al.: The DNA sequence of human chromosome 21. Nature 405, 311–319 (2000)

    Article  Google Scholar 

  3. Havlak, P., Chen, R., Durbin, K.J., Egan, A., Ren, Y., Song, X.-Z., Weinstock, G.M., Gibbs, R.A.: The Atlas genome assembly system. Genome Res. 14, 721–732 (2004)

    Article  Google Scholar 

  4. Huang, X., Wang, J., Aluru, S., Yang, S.-P., Hillier, L.: PCAP: A wholegenome assembly program. Genome Res. 13, 2164–2170 (2003)

    Article  Google Scholar 

  5. International Human Genome Mapping Consortium: A physical map of the human genome. Nature 409, 934–941 (2001)

    Google Scholar 

  6. International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001)

    Google Scholar 

  7. International Human Genome Sequencing Consortium: Finishing the euchromatic sequence of the human genome. Nature 431, 931–945 (2004)

    Google Scholar 

  8. Jaffe, D.B., Butler, J., Gnerre, S., Mauceli, E., Lindblad-Toh, K., Mesirov, J.P., Zody, M.C., Lander, E.S.: Whole–genome sequence assembly for mammalian genomes: Arachne2. Genome Res. 13, 91–96 (2003)

    Article  Google Scholar 

  9. Kent, W.J., Haussler, D.: Assembly of the working draft of the human genome with GigAssembler. Genome Res. 11, 1541–1548 (2001)

    Article  Google Scholar 

  10. Mouse Genome Sequencing Consortium: Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520–562 (2002)

    Google Scholar 

  11. Mullikin, J., Ning, Z.: The Phusion assembler. Genome Res. 13, 81–90 (2003)

    Article  Google Scholar 

  12. Rat Genome Sequencing Consortium: Genome sequence of the brown Norway rat yields insights into mammalian evolution. Nature 428, 493–521 (2004)

    Google Scholar 

  13. Stojanovic, N., Chang, J.L., Lehoczky, J., Zody, M.C., Dewar, K.: Identification of mixups among DNA sequencing plates. Bioinformatics 18, 1418–1426 (2002)

    Article  Google Scholar 

  14. Venter, J., Adams, M., Myers, E., et al.: The sequence of the human genome. Science 291, 1304–1351 (2001)

    Article  Google Scholar 

  15. Weber, J.L., Myers, E.W.: Human whole–genome shotgun sequencing. Genome Res. 7, 401–409 (1997)

    Google Scholar 

  16. Xu, J., Gordon, J.I.: MapLinker: a software tool that aids physical map– linked whole genome shotgun assembly. Bioinformatics 21, 1265–1266 (2005)

    Article  Google Scholar 

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© 2006 Springer-Verlag Berlin Heidelberg

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Stojanovic, N. (2006). An Algorithm for the Automated Verification of DNA Supercontig Assemblies. In: Rothlauf, F., et al. Applications of Evolutionary Computing. EvoWorkshops 2006. Lecture Notes in Computer Science, vol 3907. Springer, Berlin, Heidelberg. https://doi.org/10.1007/11732242_18

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  • DOI: https://doi.org/10.1007/11732242_18

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-33237-4

  • Online ISBN: 978-3-540-33238-1

  • eBook Packages: Computer ScienceComputer Science (R0)

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