title: Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.
abstract: 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.affiliation: Department of Micro- and Nanotechnology, Technical University of Denmark, DK-2800 Kongens Lyngby, Denmark.
authors.forename: Rodolphe
authors.initials: R
authors.lastname: Marie
authors.forename: Jonas N
authors.initials: JN
authors.lastname: Pedersen
authors.forename: David L V
authors.initials: DL
authors.lastname: Bauer
authors.forename: Kristian H
authors.initials: KH
authors.lastname: Rasmussen
authors.forename: Mohammed
authors.initials: M
authors.lastname: Yusuf
authors.forename: Emanuela
authors.initials: E
authors.lastname: Volpi
authors.forename: Henrik
authors.initials: H
authors.lastname: Flyvbjerg
authors.forename: Anders
authors.initials: A
authors.lastname: Kristensen
authors.forename: Kalim U
authors.initials: KU
authors.lastname: Mir
mesh_terms: D002874:Chromosome Mapping / Q000295:instrumentation / Q000379:methods; D002877:Chromosomes, Human / Q000737:chemistry / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000295:instrumentation / Q000379:methods; D008297:Male; D046210:Microfluidic Analytical Techniques / Q000295:instrumentation / Q000379:methods
chemical_list: D004247:DNA