Document Detail


Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.
MedLine Citation:
PMID:  23479649     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We show how a bird's-eye view of genomic structure can be obtained at ∼1-kb resolution from long (∼2 Mb) DNA molecules extracted from whole chromosomes in a nanofluidic laboratory-on-a-chip. We use an improved single-molecule denaturation mapping approach to detect repetitive elements and known as well as unique structural variation. Following its mapping, a molecule of interest was rescued from the chip; amplified and localized to a chromosome by FISH; and interrogated down to 1-bp resolution with a commercial sequencer, thereby reconciling haplotype-phased chromosome substructure with sequence.
Authors:
Rodolphe Marie; Jonas N Pedersen; David L V Bauer; Kristian H Rasmussen; Mohammed Yusuf; Emanuela Volpi; Henrik Flyvbjerg; Anders Kristensen; Kalim U Mir
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-03-11
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  110     ISSN:  1091-6490     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-27     Completed Date:  2013-05-23     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4893-8     Citation Subset:  IM    
Affiliation:
Department of Micro- and Nanotechnology, Technical University of Denmark, DK-2800 Kongens Lyngby, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping* / instrumentation,  methods
Chromosomes, Human* / chemistry,  genetics
DNA* / chemistry,  genetics
Genome, Human*
Humans
In Situ Hybridization, Fluorescence / instrumentation,  methods
Male
Microfluidic Analytical Techniques* / instrumentation,  methods
Grant Support
ID/Acronym/Agency:
090532/Z/09/Z//Wellcome Trust
Chemical
Reg. No./Substance:
9007-49-2/DNA
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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