Resolving the complexity of the human genome using single-molecule sequencing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-11-10

AUTHORS

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

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. More... »

PAGES

608-611

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature13907

DOI

http://dx.doi.org/10.1038/nature13907

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014139802

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25383537


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