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Resolving the complexity of the human genome using single-molecule sequencing

Author

Listed:
  • Mark J. P. Chaisson

    (University of Washington School of Medicine)

  • John Huddleston

    (University of Washington School of Medicine
    Howard Hughes Medical Institute, University of Washington)

  • Megan Y. Dennis

    (University of Washington School of Medicine)

  • Peter H. Sudmant

    (University of Washington School of Medicine)

  • Maika Malig

    (University of Washington School of Medicine)

  • Fereydoun Hormozdiari

    (University of Washington School of Medicine)

  • Francesca Antonacci

    (Università degli Studi di Bari ‘Aldo Moro’, Bari 70125, Italy)

  • Urvashi Surti

    (University of Pittsburgh)

  • Richard Sandstrom

    (University of Washington School of Medicine)

  • Matthew Boitano

    (Pacific Biosciences of California, Inc.)

  • Jane M. Landolin

    (Pacific Biosciences of California, Inc.)

  • John A. Stamatoyannopoulos

    (University of Washington School of Medicine)

  • Michael W. Hunkapiller

    (Pacific Biosciences of California, Inc.)

  • Jonas Korlach

    (Pacific Biosciences of California, Inc.)

  • Evan E. Eichler

    (University of Washington School of Medicine
    Howard Hughes Medical Institute, University of Washington)

Abstract

Single-molecule, real-time DNA sequencing is used to analyse a haploid human genome (CHM1), thus closing or extending more than half of the remaining 164 euchromatic gaps in the human genome; the complete sequences of euchromatic structural variants (including inversions, complex insertions and tandem repeats) are resolved at the base-pair level, suggesting that a greater complexity of the human genome can now be accessed.

Suggested Citation

  • Mark J. P. Chaisson & John Huddleston & Megan Y. Dennis & Peter H. Sudmant & Maika Malig & Fereydoun Hormozdiari & Francesca Antonacci & Urvashi Surti & Richard Sandstrom & Matthew Boitano & Jane M. L, 2015. "Resolving the complexity of the human genome using single-molecule sequencing," Nature, Nature, vol. 517(7536), pages 608-611, January.
    • Handle: RePEc:nat:nature:v:517:y:2015:i:7536:d:10.1038_nature13907
    DOI: 10.1038/nature13907
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