Pacific Biosciences of California Inc (PACB)

[Paulieme]

Published online 10 November 2014-- Nature | Letter
Resolving the complexity of the human genome using single-molecule sequencing
Mark J. P. Chaisson,1, John Huddleston,1, 2, Megan Y. Dennis,1, Peter H. Sudmant,1, Maika Malig,1, Fereydoun Hormozdiari,1, Francesca Antonacci,3, Urvashi Surti,4, Richard Sandstrom,1, Matthew Boitano,5, Jane M. Landolin,5, John A. Stamatoyannopoulos,1, Michael W. Hunkapiller,5, Jonas Korlach5, & Evan E. Eichler1, 2,
The human genome is arguably the most complete mammalian reference assembly1, 2, 3, yet more than 160 euchromatic gaps remain4, 5, 6 and aspects of its structural variation remain poorly understood ten years after its completion7, 8, 9. To identify missing sequence and genetic variation, here we sequence and analyse a haploid human genome (CHM1) using single-molecule, real-time DNA sequencing10. We close or extend 55% of the remaining interstitial gaps in the human GRCh37 reference genome—78% of which carried long runs of degenerate short tandem repeats, often several kilobases in length, embedded within (G+C)-rich genomic regions. We resolve the complete sequence of 26,079 euchromatic structural variants at the base-pair level, including inversions, complex insertions and long tracts of tandem repeats. Most have not been previously reported, with the greatest increases in sensitivity occurring for events less than 5 kilobases in size. Compared to the human reference, we find a significant insertional bias (3:1) in regions corresponding to complex insertions and long short tandem repeats. Our results suggest a greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology.
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http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13907.html --- Researchers Use PacBio Sequencing to Create More Complete Human Genome Reference -- http://finance.yahoo.com/news/researchers-pacbio-sequencing-create-more-160000801.html