Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.
- Marie, R.
- Pedersen, J.N.
- Bauer, D.L.
- Rasmussen, K.H.
- Yusuf, M.
- Volpi, E.
- Flyvbjerg, H.
- Kristensen, A.
- Mir, K.U.
- Marie, R.
- Pedersen, J.N.
- Bauer, D.L.
- Rasmussen, K.H.
- Yusuf, M.
- Volpi, E.
- Flyvbjerg, H.
- Kristensen, A.
- Mir, K.U.
Publication date
January 2013
DOI Publisher
Proceedings of the National Academy of SciencesAbstract
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
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