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

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. Landolin, John A. Stamatoyannopoulos, Michael W. Hunkapiller, Jonas Korlach and Evan E. Eichler ()
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Mark J. P. Chaisson: University of Washington School of Medicine
John Huddleston: University of Washington School of Medicine
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

Nature, 2015, vol. 517, issue 7536, 608-611

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.

Date: 2015
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DOI: 10.1038/nature13907

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