Abstract: Embodiments may include a method of determining a nucleic acid sequence. The method may include receiving a plurality of DNA fragments. The method may also include concatemerizing a first set of the DNA fragments to obtain a concatemer. The method may include performing single-molecule sequencing of the concatemer to obtain a first sequence of the concatemer. In some embodiments, single-molecule sequencing may be performed using a nanopore, and the method may include passing the concatemer through a nanopore. A first electrical signal may then be detected as the concatemer passes through the nanopore. The first electrical signal may correspond to a first sequence of the concatemer. In addition, the method may include analyzing the first electrical signal to determine the first sequence. Subsequences of the first sequence may be aligned to identify sequences corresponding to each of the first set of the DNA fragments.

Abstract: Disclosed herein include methods and compositions for selectively amplifying and/or extending nucleic acid target molecules in a sample. The methods and compositions can, for example, reduce the amplification and/or extension of undesirable nucleic acid species in the sample, and/or allow selective removal of undesirable nucleic acid species in the sample.

Abstract: The present invention provides for methods for discriminating between alleles at polymorphic positions in a genome. In general, the methods employ allele-specific extension of oligonucleotides that are complementary to one of the alleles at the 3? end of the oligonucleotide. The allele-specific oligonucleotides are resistant to proofreading activity from a polymerase and may be extended in an allele-specific manner by a DNA polymerase with a functional 3? to 5? exonuclease activity. The allele-specific oligonucleotides may be attached to a solid support such as a chip or a bead.

Abstract: A method for determining a patient's susceptibility of contracting a nosocomial infection that includes obtaining a biological sample from the patient and extracting biological material from the biological sample; preparing a specific reagent of an expression product of at least one target gene selected from S100A9 and S100A8 target genes; and determining the expression of at least one of the target genes S100A9 and S100A8, where overexpression relative to a specified threshold value indicates susceptibility of contracting a nosocomial infection.

Abstract: The present disclosure relates to, inter alia, an easy-to-operate, fully closed component, which can be part of an instrument, for purification of biomolecules from biological samples, and subsequent transfer, and testing of the biomolecules, as well as an instrument comprising the component, and a method for using the component.

Abstract: Customization of a universal reagent cartridge with a lyophilized target-specific PCR component reagent is disclosed. The universal reagent cartridge includes multiple chambers populated with predetermined non-target-specific reagents therein. A custom reagent storage device that stores a lyophilized, target-specific reagent is provided and is configured to be end user insertable into the universal reagent cartridge to customize the universal reagent cartridge with the target-specific reagent.

Abstract: Provided herein are methods and compositions to determine the efficacy of a nucleic acid pre-amplification reaction.

Abstract: The present disclosure provides ultrahigh-throughput single cell genomic sequencing methods, referred to herein as “SiC-seq”, which methods include encapsulating single cells in molten gel droplets to facilitate bulk cell lysis and purification of genomic DNA in microgels. Systems and devices for practicing the subject methods are also provided.

Abstract: Provided herein is technology for neoplasia screening, and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of cancer, in particular, colorectal cancer.

Abstract: One aspect of the invention is a method for amplifying alpha globin genes HBA1, HBA2 and HBA12 in a single PCR tube to determine an HBA genotype of a subject. This method employs five primers selected to accurate and sensitively identify the HBA1, HBA2, and HBA12, a gene found at a higher frequency in citizens of Saudi Arabia, by accurately annealing to nucleic acids in a biological sample and simultaneously amplifying sequences encoding the alpha globin genes. This invention includes a procedure and required reagents for the amplification of alpha globin genes in a single PCR tube.

Abstract: The present invention is directed to methods and compositions for adding tails of specific lengths to a substrate polynucleotide. The invention also contemplates methods and compositions for immobilization of tailed substrates to a solid support. The disclosure contemplates that the attenuator molecule is any biomolecule that associates with a tail sequence added to a substrate polynucleotide and controls the addition of a tail sequence to the 3? end of the substrate polynucleotide. The sequence that is added to the substrate polynucleotide is referred to herein as a tail sequence, or simply a tail, and the process of adding a nucleotide to a substrate polynucleotide is referred to herein as tailing.

Abstract: The present invention provides methods, compositions and kits for using a transposase and a transposon end for generating extensive fragmentation and 5?-tagging of double-stranded target DNA in vitro, then using a DNA polymerase for generating 5?- and 3?-tagged single-stranded DNA fragments without performing a PCR amplification reaction, wherein the first tag on the 5?-ends exhibits the sequence of the transferred transposon end and optionally, an additional arbitrary sequence, and the second tag on the 3?-ends exhibits a different sequence from the sequence exhibited by the first tag. The method is useful for generating 5?- and 3?-tagged DNA fragments for use in a variety of processes, including processes for metagenomic analysis of DNA in environmental samples, copy number variation (CNV) analysis of DNA, and comparative genomic sequencing (CGS), including massively parallel DNA sequencing so-called “next generation sequencing”).

Abstract: The present invention refers to an in vitro method for screening for subjects at risk of developing pancreatic cancer or intraductal papillary mucinous neoplasm of the pancreas (IPMN) comprising: (a) measuring the expression pattern or level of at least hsa-miR-33a*, or of at least hsa-miR-320a, or of at least hsa-let-7e, or of at least hsa-let-7f, or of at least hsa-miR-1257, or of at least hsa-miR-1304, or of at least hsa-miR-151b, or of at least hsa-miR-3120-3p, or of at least hsa-miR-3133, or of at least hsa-miR-3714, or of at least hsa-miR-4468, or of at least hsa-miR-4639-5p, or of at least hsa-miR-4713-5p, or of at least hsa-miR-4714-5p, or of at least hsa-miR-4770, or of at least hsa-miR-548d-3p, or of at least hsa-miR-761, obtained from an isolated biological sample of the subjects to be screened; and (b) comparing said expression pattern or level of at least hsa-miR-33a*, or of at least hsa-miR-320a, or of at least hsa-let-7e, or of at least hsa-let-7f, or of at least hsa-miR-1257, or of at least hs

Abstract: The invention provides methods of amplification from a single primer or a pair of forward and reverse primers of limited nucleotide composition. Limited nucleotide composition means that the primers are underrepresented in at least one nucleotide type. Such primers have much reduced capacity to prime from each other or to extend initiated by mispriming from other than at their intended primer binding sites in a target nucleic acid.

Abstract: A biological sample analysis system including a sample preparation system forming droplets of segmented sample separated by a carrier fluid immiscible with the sample. The droplets include reaction mixtures for amplification of at least one target nucleic acid. A thermal cycling device having a sample block having a plurality of controlled thermal zones, and a containment structure in thermal communication with the plurality of controlled thermal zones. The containment structure receives and contains the droplets of segmented sample separated by the immiscible carrier fluid from the sample preparation system. A controller for controlling a temperature in each thermal zone of the sample block. A detection system detects electromagnetic radiation emitted from each of the droplets individually from the queue of droplets as they flow past the detection system. A positioning system to facilitate moving a queue of the droplets in the thermal cycling device relative to the detection system.

Abstract: The present disclosure provides a method and system for the PCR amplification of a target sequence which suppresses non-specific amplification products. The disclosure concerns the use of a primer pair optimized to amplify a nucleic acid of a contaminant in the background of genomic DNA of a first organism. When DNA from a second organism suspected for comprising the contaminant is subjected to the same PCR-based amplification reaction, detection sensitivity and specificity of the contaminant is enhanced when an amount of genomic DNA of the first organism is present in the amplification reaction.

Abstract: Methods of, and compositions for, analysis using digital amplification assays with unconventional/inverse changes in photoluminescence to indicate the presence of one or more targets. In an exemplary method, isolated volumes may be formed, only a subset of which contain a target. Each volume may include a probe having a label, a sink having a quencher and configured to hybridize with the probe to quench the label, and a separator configured to hybridize with the probe and/or the sink to block hybridization of the sink with the probe. An amplification reaction may be performed in the volumes to generate an amplicon corresponding to the target. The separator may hybridize with the amplicon, and may be extended or degraded by the amplification reaction. Photoluminescence of the label may be detected from the volumes, and the photoluminescence of target-positive volumes may be less than that of target-negative volumes.

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Methods and reagents for blocking non-specific interactions with nucleic acids are disclosed. In particular, the invention relates to multi-valent blockers comprising multiple negatively charged polymers or materials attached to a common scaffold and their use in blocking non-specific interactions with nucleic acids.

Abstract: The disclosure is directed to methods, kits, and compositions, for amplifying and detecting a human hepatitis B virus (HBV) in a sample, which comprises a variety of combinations of forward oligonucleotide primers, reverse oligonucleotide primers, and oligonucleotide probes.