Abstract: Methods of double-stranded nucleic acid sequence determination and assembly that are able to identify insertions, deletions, repeat region sizes and genomic rearrangements, for example, are disclosed herein, which can use relatively large labeled nucleic acid fragments to analyze the structure of even larger genetic regions. In some embodiments these methods involve the use of certain parameters which unexpectedly improve overall method performance. In some embodiments these methods involve sample labeling that does not result in the formation of single-stranded nucleic acid fragment labeling intermediaries.

Abstract: 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.

Abstract: Methods are provided for detecting and quantitating molecules using fluidics. In some embodiments, the methods comprise minimizing or eliminating biases caused by label density, or minimizing or eliminated biases caused by factors other than label density. In some embodiments, the methods comprise automated identification of genetic structural variation. In some embodiments, the methods comprise analyzing blood to detect the presence of circulating DNA or cells from a fetus or tumor.

Abstract: Constricted nanochannel devices suitable for use in analysis of macromolecular structure, including DNA sequencing, are disclosed. Also disclosed are methods for fabricating such devices and for analyzing macromolecules using such devices.

Abstract: Methods are provided for detecting and quantitating molecules using fluidics. In preferred embodiments, the methods comprise analyzing blood to detect the presence of circulating DNA or cells from a fetus or tumor.

Abstract: Provided are integrated analysis devices having features of macroscale and nanoscale dimensions, and devices that have reduced background signals and that reduce quenching of fluorophores disposed within the devices. Related methods of manufacturing these devices and of using these devices are also provided.

Abstract: A method and system for improving throughput of a fluidic system such as a biopolymer analysis system by cleaning accumulated or clogging biopolymer from the fluidic system is disclosed. The method and system utilize a light energy source to photocleave the biopolymer molecules that may accumulate or aggregate in the fluidic system or clog a passageway. The accumulated biopolymer may be exposed to a light energy source for a sufficient period of time such that the biopolymer molecule is dosed with sufficient energy to photocleave the biopolymer molecules, thereby restoring the efficiency of and flow through the system.

Abstract: 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.

Abstract: Methods are provided for detecting and quantitating molecules using fluidics. In some embodiments, the methods comprise minimizing or eliminating biases caused by label density, or minimizing or eliminated biases caused by factors other than label density. In some embodiments, the methods comprise automated identification of genetic structural variation. In some embodiments, the methods comprise analyzing blood to detect the presence of circulating DNA or cells from a fetus or tumor.

Abstract: Constricted nanochannel devices suitable for use in analysis of macromolecular structure, including DNA sequencing, are disclosed. Also disclosed are methods for fabricating such devices and for analyzing macromolecules using such devices.

Abstract: Systems are provided for detecting and quantitating short nucleic acid molecules.

Abstract: Provided are integrated analysis devices having features of macroscale and nanoscale dimensions, and devices that have reduced background signals and that reduce quenching of fluorophores disposed within the devices. Related methods of manufacturing these devices and of using these devices are also provided.

Abstract: 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.

Abstract: A technique relates to manufacturing a nanogap. An oxide layer is disposed on top of a substrate. A release layer is disposed in a pattern on top of the oxide layer. A patterned trench is etched into the oxide layer using the pattern of the release layer. A metal layer is disposed on the release layer and in the patterned trench. A polish removes the release layer, thereby removing both the release layer and a portion of the metal layer having been disposed on top of the release layer, such that the metal layer remaining includes a first metal part and a second metal part connected by a metal nanowire. The metal layer remaining is coplanar with the oxide layer. A nanochannel is formed in the oxide layer in a region of the metal nanowire. The nanogap is formed in the metal nanowire separating the first and second metal parts.

Abstract: Methods of analyzing features such as the physical size of macromolecules or biomarkers along large genomic DNA molecules were disclosed as wen as the devices for carrying out such high throughput analysis in a massively parallel fashion. Methods of fabricating such devices are also disclosed.

Abstract: The present invention provides methods of obtaining structural information about a biopolymer sample. The methods include labeling portions of a biopolymer, such as DNA or RNA, linearizing the biopolymer in some cases, and determining the distance between the labels. The user can then compare different samples' between-label distances to qualitatively compare different samples and to assay a given sample for additions or deletions of nucleotides in the regions flanked by the labels. The methods also permit sequencing of biopolymers.

Abstract: Constricted nanochannel devices suitable for use in analysis of macromolecular structure, including DNA sequencing, are disclosed. Also disclosed are methods for fabricating such devices and for analyzing macromolecules using such devices.

Abstract: Methods are provided for characterizing a sample comprising polynucleotide sequences. The methods can comprise labeling nucleic acid molecules of the sample, translocating the plurality of labeled sample nucleic acid molecules though one or more fluidic nanochannels, detecting physical counts of signals from the labeled sample nucleic acid molecule, and determining a copy number of a genome or a fragment or fragments thereof in the sample.

Abstract: A technique relates to manufacturing a nanogap. An oxide layer is disposed on top of a substrate. A release layer is disposed in a pattern on top of the oxide layer. A patterned trench is etched into the oxide layer using the pattern of the release layer. A metal layer is disposed on the release layer and in the patterned trench. A polish removes the release layer, thereby removing both the release layer and a portion of the metal layer having been disposed on top of the release layer, such that the metal layer remaining includes a first metal part and a second metal part connected by a metal nanowire. The metal layer remaining is coplanar with the oxide layer. A nanochannel is formed in the oxide layer in a region of the metal nanowire. The nanogap is formed in the metal nanowire separating the first and second metal parts.

Abstract: Provided are devices and methods for polymer analysis, in which labeled polymers are translocated along nanochannels that have illuminated detection regions within. As a labeled polymer translocates along the nanochannel and the labels pass over the illuminated detection regions, the labels become detectable (e.g., where different labels fluoresce in response to different wavelengths present at different illumination regions), and the user generates a spatial map of the location of the various labels along the length of the polymer. The location of the labels is then correlated to one or more structural characteristics of the polymer.