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Efficient Algorithms for Analyzing Segmental Duplications, Deletions, and Inversions in Genomes

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Part of the book series: Lecture Notes in Computer Science ((LNBI,volume 5724))

Abstract

Segmental duplications, or low-copy repeats, are common in mammalian genomes. In the human genome, most segmental duplications are mosaics consisting of pieces of multiple other segmental duplications. This complex genomic organization complicates analysis of the evolutionary history of these sequences. Earlier, we introduced a genomic distance, called duplication distance, that computes the most parsimonious way to build a target string by repeatedly copying substrings of a source string. We also showed how to use this distance to describe the formation of segmental duplications according to a two-step model that has been proposed to explain human segmental duplications. Here we describe polynomial-time exact algorithms for several extensions of duplication distance including models that allow certain types of substring deletions and inversions. These extensions will permit more biologically realistic analyses of segmental duplications in genomes.

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References

  1. Sankoff, D., Leduc, G., Antoine, N., Paquin, B., Lang, B., Cedergren, R.: Gene Order Comparisons for Phylogenetic Inference: Evolution of the Mitochondrial Genome. Proc. Natl. Acad. Sci. U.S.A. 89(14), 6575–6579 (1992)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Pevzner, P.: Computational molecular biology: an algorithmic approach. MIT Press, Cambridge (2000)

    Google Scholar 

  3. Chen, X., Zheng, J., Fu, Z., Nan, P., Zhong, Y., Lonardi, S., Jiang, T.: Assignment of Orthologous Genes via Genome Rearrangement. IEEE/ACM Trans. Comp. Biol. Bioinformatics 2(4), 302–315 (2005)

    Article  CAS  Google Scholar 

  4. Marron, M., Swenson, K.M., Moret, B.M.E.: Genomic Distances Under Deletions and Insertions. TCS 325(3), 347–360 (2004)

    Article  Google Scholar 

  5. El-Mabrouk, N.: Genome Rearrangement by Reversals and Insertions/Deletions of Contiguous Segments. In: Giancarlo, R., Sankoff, D. (eds.) CPM 2000. LNCS, vol. 1848, pp. 222–234. Springer, Heidelberg (2000)

    Chapter  Google Scholar 

  6. Zhang, Y., Song, G., Vinar, T., Green, E.D., Siepel, A.C., Miller, W.: Reconstructing the Evolutionary History of Complex Human Gene Clusters. In: Vingron, M., Wong, L. (eds.) RECOMB 2008. LNCS (LNBI), vol. 4955, pp. 29–49. Springer, Heidelberg (2008)

    Chapter  Google Scholar 

  7. Ma, J., Ratan, A., Raney, B.J., Suh, B.B., Zhang, L., Miller, W., Haussler, D.: Dupcar: Reconstructing contiguous ancestral regions with duplications. Journal of Computational Biology 15(8), 1007–1027 (2008)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Bertrand, D., Lajoie, M., El-Mabrouk, N.: Inferring Ancestral Gene Orders for a Family of Tandemly Arrayed Genes. J. Comp. Biol. 15(8), 1063–1077 (2008)

    Article  CAS  Google Scholar 

  9. Chaudhuri, K., Chen, K., Mihaescu, R., Rao, S.: On the Tandem Duplication-Random Loss Model of Genome Rearrangement. In: Proceedings of the Seventeenth Annual ACM-SIAM Symposium on Discrete Algorithms (SODA), pp. 564–570. ACM, New York (2006)

    Chapter  Google Scholar 

  10. Elemento, O., Gascuel, O., Lefranc, M.P.: Reconstructing the Duplication History of Tandemly Repeated Genes. Mol. Biol. Evol. 19(3), 278–288 (2002)

    Article  CAS  PubMed  Google Scholar 

  11. Lajoie, M., Bertrand, D., El-Mabrouk, N., Gascuel, O.: Duplication and Inversion History of a Tandemly Repeated Genes Family. J. Comp. Bio. 14(4), 462–478 (2007)

    Article  CAS  Google Scholar 

  12. El-Mabrouk, N., Sankoff, D.: The reconstruction of doubled genomes. SIAM J. Comput. 32(3), 754–792 (2003)

    Article  Google Scholar 

  13. Alekseyev, M.A., Pevzner, P.A.: Whole Genome Duplications and Contracted Breakpoint Graphs. SICOMP 36(6), 1748–1763 (2007)

    Article  Google Scholar 

  14. Bailey, J., Eichler, E.: Primate Segmental Duplications: Crucibles of Evolution, Diversity and Disease. Nat. Rev. Genet. 7, 552–564 (2006)

    Article  CAS  PubMed  Google Scholar 

  15. Kahn, C.L., Raphael, B.J.: Analysis of Segmental Duplications via Duplication Distance. Bioinformatics 24, i133–i138 (2008)

    Article  Google Scholar 

  16. Kahn, C.L., Raphael, B.J.: A Parsimony Approach to Analysis of Human Segmental Duplications. In: Pacific Symposium on Biocomputing, pp. 126–137 (2009)

    Google Scholar 

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© 2009 Springer-Verlag Berlin Heidelberg

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Kahn, C.L., Mozes, S., Raphael, B.J. (2009). Efficient Algorithms for Analyzing Segmental Duplications, Deletions, and Inversions in Genomes. In: Salzberg, S.L., Warnow, T. (eds) Algorithms in Bioinformatics. WABI 2009. Lecture Notes in Computer Science(), vol 5724. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04241-6_15

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  • DOI: https://doi.org/10.1007/978-3-642-04241-6_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-04240-9

  • Online ISBN: 978-3-642-04241-6

  • eBook Packages: Computer ScienceComputer Science (R0)

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