Genotype and Haplotype Reconstruction from Low-Coverage Short Sequencing Reads

  • Ion Măndoiu
Part of the Lecture Notes in Computer Science book series (LNCS, volume 5462)

Abstract

Recent advances in high-throughput sequencing (HTS) technologies have led to orders of magnitude higher throughput compared to classic Sanger sequencing (see [3] for a review). Coupled with continuously decreasing sequencing costs, HTS data provides opportunities to study genome structure, function, and evolution at an unprecedented scale, and is profoundly transforming biomedical research.

References

  1. 1.
    1000 Genomes Project Consortium, http://www.1000genomes.org/
  2. 2.
    Bentley, D.R., et al.: Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456(7218), 53–59 (2008)CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Holt, R.A., Jones, S.J.: The new paradigm of flow cell sequencing. Genome Res. 18(6), 839–846 (2008)CrossRefPubMedGoogle Scholar
  4. 4.
    Levy, S., et al.: The diploid genome sequence of an individual human. PLoS Biology 5(10), e254+ (2007)CrossRefGoogle Scholar
  5. 5.
    Manolio, T.A., Brooks, L.D., Collins, F.S.: A HapMap harvest of insights into the genetics of common disease. J. Clin. Invest. 118(5), 1590–1605 (2008)CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Ng, P.C., et al.: Genetic variation in an individual human exome. PLoS Genet 4(8), e1000160+ (2008)CrossRefGoogle Scholar
  7. 7.
    Wang, J., et al.: The diploid genome sequence of an Asian individual. Nature 456(7218), 60–65 (2008)CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Wheeler, D.A., et al.: The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872–876 (2008)CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2009

Authors and Affiliations

  • Ion Măndoiu
    • 1
  1. 1.Department of Computer Science & EngineeringUniversity of ConnecticutStorrsUSA

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