Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23479649.
- Also identified by DOI 10.1073/pnas.1214570110 and PMC identifier 3612670.
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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.
Medical subject headings
- Chromosome Mapping
- Chromosomes, Human
- DNA
- Genome, Human
- Microfluidic Analytical Techniques