Methods and devices for single-molecule whole genome analysis

摘要

Provided are methods and devices for single-molecule genomic analysis. In one embodiment, the methods entail processing a double-stranded nucleic acid and characterizing said nucleic acid. These methods are useful in, e.g. determining structural variations and copy number variations between individuals.

主权项

1. A method of characterizing a first single-molecule DNA, comprising:
labeling a plurality of sequence-specific locations on the first single-molecule DNA with a labeling technique that does not comprise labeling a cut or nicked strand of the first single-molecule DNA; linearizing at least a portion of the labeled first single-molecule DNA in a nanochannel by physical-entropic confinement of the first single-molecule DNA; and detecting a recognizable pattern of label positions on the linearized first single-molecule DNA or portion thereof in the nanochannel, wherein said detecting comprises simultaneously detecting genomic sequence information and epigenomic pattern information in the same field of view on the linearized first single-molecule DNA or portion thereof, wherein said detecting comprises detecting at least one of a fluorescent signal, a chemoluminescent signal, an electromagnetic signal, an electrical signal, or a potential difference, and wherein detecting said genomic sequence information comprises detecting a signal, wavelength, or signal and wavelength different from detecting said epigenomic pattern information.