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.
- Physical Sciences
- Biological Sciences
- Applied Physical Sciences
Marie, R., Pedersen, J. N.
, L. V. Bauer, D., Rasmussen, K. H.
, Yusuf, M., Volpi, E., ... U. Mirb, K. (2013). Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device
. Proceedings of the National Academy of Sciences of the United States of America
(13), 4893-4898. https://doi.org/10.1073/pnas.1214570110