| Literature DB >> 23479649 |
Rodolphe Marie1, Jonas N Pedersen, David L V Bauer, Kristian H Rasmussen, Mohammed Yusuf, Emanuela Volpi, Henrik Flyvbjerg, Anders Kristensen, Kalim U Mir.
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.Mesh:
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Year: 2013 PMID: 23479649 PMCID: PMC3612670 DOI: 10.1073/pnas.1214570110
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN: 0027-8424 Impact factor: 11.205