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

November 2014

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 & Evan E. Eichler

In this Nature paper, scientists from the University of Washington, University of Bari Aldo Moro, University of Pittsburgh, and Pacific Biosciences used long-read sequencing to close or shrink 55 percent of gaps remaining in the human reference genome. They detected substantial amounts of structural variation not represented in the current reference. The scientists used BluePippin to prepare 20 Kb and 30 Kb libraries for sequencing (see supplementary info).

Nature (2014)

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