Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device

Rodolphe Marie, Jonas Nyvold Pedersen, David L. V. Bauer, Kristian Hagsted Rasmussen, Mohammed Yusuf, Emanuela Volpi, Henrik Flyvbjerg, Anders Kristensen, Kalim U. Mirb

    Research output: Contribution to journalJournal articleResearchpeer-review


    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 laboratoryon-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 fromthe 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.
    Original languageEnglish
    JournalProceedings of the National Academy of Sciences of the United States of America
    Issue number13
    Pages (from-to)4893-4898
    Publication statusPublished - 2013


    • Physical Sciences
    • Biological Sciences
    • Applied Physical Sciences
    • Genetics

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