Abstract: Provided herein are methods and kits for distinguishing 5-hydroxymethylcytosine from 5-methylcytosine.

Abstract: The present invention relates to methods and tools for discriminating between Vel negative and Vel positive phenotypes. The invention is thus useful for determining Vel blood group status of individuals about to receive blood transfusion.

Abstract: Methods and devices for accurate genome sequencing, including sequencing of single cells by single-stranded amplification and sequencing are provided herein.

Abstract: The present invention provides methods of detecting and/or quantitating a target oligonucleotide in a biological sample.

Abstract: Provided herein is a method of detecting cancer through generalized loss of stability of epigenetic domains as well as compositions useful therein. The present invention is based on the discovery that generalized loss of stability of epigenetic domains was determined to be a characteristic across various cancer types. Genome-scale bisulfite sequencing of cancers revealed a surprising loss of methylation stability in the cancer methylome, involving both CpG islands and shores, as well as large (up to several megabases) blocks of hypomethylation affecting more than half of the genome, with concomitant stochastic variability in gene expression.

Abstract: The invention described herein relates generally to methods, sensors, devices and kits for electrochemical detection of a target analyte in a sample. In certain aspects, the methods, sensors, devices and kits described herein can be used to detect low concentrations of at least one target analyte using small sample volumes. In some embodiments, methods, sensors and kits for detecting a microbe, microbe fragment or released endotoxin in a test sample, including bodily fluids such as blood and tissues of a subject, food, water, and environmental surfaces, are also provided herein.

Abstract: The present disclosure provides, in various aspects and embodiments, methods and compositions for selectively amplifying a rare target nucleic acid and/or suppressing amplification of non-target nucleic acids with sequences similar to the rare target nucleic acid. The methods and composition are useful, for example, for detecting rare alleles among a population of wild-type alleles.

Abstract: The present disclosure provides methods of activating an enzyme, such as error prone or template independent polymerase, using electricity to alter pH of a reaction zone and reaction site from an inactivating pH at which the enzyme is inactive to an activating pH at which the enzyme is active to add a nucleotide to an initiator or growing polymer chain. The activating pH can then be changed back to an inactivating pH and the process repeated as many times as desired to produce a target nucleic acid sequence.

Abstract: The present invention provides members that produce on a large scale a coenzyme-linked glucose dehydrogenase which has excellent substrate-recognizing ability toward glucose while providing low action on maltose. The present invention relates to a polynucleotide encoding a soluble coenzyme-linked glucose dehydrogenase that catalyzes the oxidation of glucose in the presence of an electron acceptor and has an activity toward maltose of 5% or lower; a polypeptide encoded by the nucleotide sequence of the polynucleotide; a recombinant vector carrying the polynucleotide; a transformed cell produced using the recombinant vector; a method for producing a polypeptide comprising culturing the transformed cell and collecting from the cultivated products a polypeptide that links to FAD to exert the glucose dehydration activity; a method for determination of glucose using the polypeptide; a reagent composition for determination of glucose; and a biosensor.

Abstract: Compositions and methods for nucleic acid isolation from an environmental or biological sample comprising nucleic acid-analysis interferents, particularly from microbiome-containing samples, are provided.

Abstract: The present invention provides methods comprising the in vivo delivery of small nucleic acid molecules capable of mediating RNA interference and reducing the expression of myostatin, wherein the small nucleic acid molecules are introduced to a subject by systemic administration. Specifically, the invention relates to methods comprising the in vivo delivery of short interfering nucleic acid (siNA) molecules that target a myostatin gene expressed by a subject, wherein the siNA molecule is conjugated to a lipophilic moiety, such as cholesterol. The myostatin siNA conjugates that are delivered as per the methods disclosed are useful to modulate the in vivo expression of myostatin, increase muscle mass and/or enhance muscle performance. Use of the disclosed methods is further indicated for treating musculoskeletal diseases or disorders and/or diseases or disorders that result in conditions in which muscle is adversely affected.

Abstract: The invention relates to a method for synthesising templated molecules attached to the templated which directed the synthesis thereof. The method involves a template, a scaffold functional entity and a functional entity attached to a building block, which, in turn, is attached the template. The scaffold functional entity and the functional entity of the building block are both provided with complementary dimerization domains allowing the functional entities to come into close proximity when the complementary domains interact with to each other. The method may be used for generating libraries of templated molecules which may be selected for biological activity.

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.

Abstract: The present invention relates to a recombinant nucleic acid molecule, a recombinant microorganism, to a method for producing alanine and to the use of the recombinant nucleic acid molecule or the recombinant microorganism for the fermentative production of alanine.

Abstract: The present invention relates to a method of predicting the effectiveness of chemotherapy in a breast cancer patient, and more particularly, to a method for predicting the effectiveness of chemotherapy by measuring the expression levels of genes for predicting prognosis of breast cancer and a standard gene in a biological sample obtained from the breast cancer patient, and a method for predicting the difference between a patient group having a high effectiveness of chemotherapy and a patient group having a low effectiveness of chemotherapy. Therefore, the method of the present invention can accurately predict the effectiveness of chemotherapy for the breast cancer patient, and can be used for the purpose of presenting clues about the direction of breast cancer treatment in the future.

Abstract: Certain aspects pertain to epi-illumination Fourier ptychographic imaging systems and methods for high resolution imaging of thick samples.

Abstract: Methods of detecting or quantifying short RNA or DNA molecules using split cycle amplification are provided.

Abstract: The technology described herein is directed to methods of determining oligonucleotide sequences, e.g. by enriching target sequences prior to sequencing the sequences.

Abstract: The present invention provides processes for determining accurate risk probabilities for fetal aneuploidies. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

Abstract: This invention relates to recombinant Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) arrays and recombinant nucleic acid constructs encoding Type I-E CASCADE complexes as well as plasmids, retroviruses and bacteriophage comprising the same.

Abstract: A semiconductor device includes a circuit layer and a nanopore layer. The nanopore layer is formed on the circuit layer and is formed with a pore therethrough. The circuit layer includes a circuit unit configured to drive a biomolecule through the pore and to detect a current associated with a resistance of the nanopore layer, whereby a characteristic of the biomolecule can be determined using the currents detected by the circuit unit.

Abstract: The present disclosure generally relates to methods for treating, preventing, inhibiting the progression of or reducing the likelihood of occurrence of a myocardial infarction-related complication, a cardiac disorder characterised by abnormal conduction and other cardiac conditions. The present disclosure also generally relates to one or more inhibitors of Connexin 45.

Abstract: The present invention pertains to an in vitro method in which a targeted DNA molecule containing a DNA sequence of interest is enriched by a) general amplification of DNA molecules in a multiple of droplets each containing less than 0.5 target DNA molecule on average (404), b) specific detection of the target DNA molecule in each of the droplets (405), and c) physically selecting droplets containing target DNA molecules (406).

Abstract: The application discloses circRNAs as new biomarkers for the development of heart failure after myocardial infarction; methods for the prediction and diagnosis of heart failure are provided based on measuring said one or more circRNAs; and kits and devices for measuring said circRNAs and/or performing said methods. Further provided are methods for treating patients at risk of heart failure based on the evaluation of said one or more circRNAs.

Abstract: Disclosed is a purified dialkyl furan dicarboxylate (DAFD) vapor composition containing at least 99.5 wt. % DAFD; 5-(alkoxycarbonyl) furan-2-carboxylic acid (ACFC) that, if present, is present in an amount of not more than 1000 ppm, alkyl-5-formylfuran-2-carboxylate (AFFC) that, if present, is present in an amount of not more than 1000 ppm, 5-(dialkoxymethyl)furan-2-carboxylic acid (DAFCA) that if present, is present in an amount of not more than 1000 ppm, and alkyl 5-(dialkoxymethyl)furan-2-carboxylate (ADAFC) that if present, is present in an amount of not more than 1000 ppm, in each case based on the weight of the DAFD vapor composition.

Abstract: The invention provides various methods of identifying myocardial infarction (MI) patients who have microvascular obstruction (MO), persistent microvascular obstruction (PMO), reperfusion hemorrhage, iron deposition, chronic iron deposition, and/or fat infiltration/accumulation. The invention provides various methods of identifying myocardial infarction (MI) patients who are at risk of prolonged inflammation burden in heart, adverse cardiac remodeling, electrical abnormality, mechanical abnormality, malignant cardiac arrhythmia, ischemic heart failure, and/or sudden cardiac death. The invention also provides various methods of treating these MI patients with chelation drugs, anti-inflammatory drugs, fat-lowering drugs, cooling therapies, or device therapies, or their combinations.

Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.

Abstract: The present invention relates to primers, probes, primer sets, primer and probe sets, methods and kits for detecting human papillomaviruses, human beta globin sequences and human papillomaviruses and human beta globin sequences in a test sample.

Abstract: In some embodiments, the present inventions relates generally to compositions, methods and kits for use in discriminating sequence variation between different alleles. More specifically, in some embodiments, the present invention provides for compositions, methods and kits for quantitating rare (e.g., mutant) allelic variants, such as SNPs, or nucleotide (NT) insertions or deletions, in samples comprising abundant (e.g., wild type) allelic variants with high specificity and selectivity. In particular, in some embodiments, the invention relates to a highly selective method for mutation detection referred to as competitive allele-specific TaqMan PCR (“cast-PCR”).

Abstract: Methods of assaying cells of a cellular sample for the presence of a target nucleic acid are provided. Aspects of the methods include evaluating a cellular sample that has been contacted with a nuclease inhibitor for the presence of a target nucleic acid. Also provided are devices and kits that find use in practicing the methods described herein.

Abstract: The present disclosure provides methods of detecting a fusion gene of HNF4G and RSPO2 in a nucleic acid-containing sample, and a primer set, a probe set and a kit for detecting the fusion gene are also provided. Animal models for a human disease positive for the fusion gene are also provided herein. In addition, the present disclosure relates to the methods for assessing and identifying an agent effective on the fusion gene of HNF4G and RSPO2 or a human disease positive for a fusion gene of HNF4G and RSPO2 and thereby treating said disease are also provided.

Abstract: The invention relates to the identification of microRNAs associated with acne and to the use thereof.

Abstract: Provided herein is technology relating to detecting neoplasia and particularly, but not exclusively, to methods, compositions, and related uses for detecting premalignant and malignant neoplasms such as pancreatic and colorectal cancer.

Abstract: Ligation assays in liquid phase for detecting nucleic acid sequences.

Abstract: It provides a method for predicting the risk of an adverse pregnancy or neonatal outcome for a pregnant subject by detecting the elevated level of bacteria from one or more selected bacterial taxa (e.g., genera or species). A kit useful for such a method is also provided. In addition, it provides a method for determining the risk of having advanced cervical dilation and/or premature cervical shortening based on differentially abundant bacterial taxa.

Abstract: The invention relates to a sample processing system and method for processing biological samples, comprising a sample processing device having: a receiving plate, which is arranged substantially horizontally in a plane; a first and second working arm, which can move relative to the receiving plate and extend substantially parallel to each other in a second direction (Y) over the receiving plate; at least one pipetting device mounted on the first working arm, which is movable in the second direction (Y) and in a third direction (Z) orthogonal in relation to the first and second direction (X, Y); at least one gripping device, mounted on the second working arm, with grippers that can be rotated around a gripper axis of rotation (GA) parallel to the third direction (Z); and a control device for controlling the pipetting device and the gripping device.

Abstract: The present disclosure is directed to an improved method for distinguishing tissue from an embedding medium, such as paraffin in a formalin-fixed paraffin-embedded sample. The method involves the use of fluorescence of naturally-occurring species in tissue to determine the location of the tissue in the embedded sample. An embedded sample is generally excited by light of a selected wavelength, and the fluorescence emission at an emitted wavelength is used to locate the boundary or location of the tissue in the embedded sample.

Abstract: The present invention relates to oligonucleotide inhibitors of the TSC22D4 activity or expression and their uses for the prevention, treatment, and/or regulation of insulin resistance, metabolic syndrome and/or diabetes and/or for improving insulin sensitivity in a mammal.

Abstract: To provide a quantum dot and manufacturing method of the dot particularly capable of reducing organic residues adhering to the quantum dot surface and of suppressing the black discoloration occurrence of a layer including the quantum dot positioned immediately above a light emitting device, and a compact, sheet member, wavelength conversion member and light emitting apparatus with high luminous efficiency using the quantum dot, a quantum dot of the present invention has a core portion including a semiconductor particle, and a shell portion with which the surface of the core portion is coated, and is characterized in that a weight reduction up to 490° C. is within 75% in a TG-DTA profile. Further, the quantum dot of the invention is characterized in that oleylamine (OLA) is not observed in GC-MS qualitative analysis at 350° C.

Abstract: Novel haplotype cluster Markov models are used to phase genomic samples. After the models are built, they rapidly and accurately phase new samples without requiring that the new samples be used to re-build the models. The models set transition probabilities such that the probability for an appearance of any allele within any haplotype is a non-zero number. Furthermore, the most unlikely pairs of haplotypes are discarded from each model at each level until c of the likelihood mass at each level is discarded. The models are also constructed such that contributing windows of SNPs partially overlap so that phasing decisions near one of the extreme ends of any model is are not significantly determinative of the phase. Additionally, the models are configured such that two or more nodes can be merged during the building/updating procedure to consolidate haplotype clusters having similar distributions.

Abstract: Disclosed is a method to achieve digital quantification of DNA (i.e., counting differences between identical sequences) using direct shotgun sequencing followed by mapping to the chromosome of origin and enumeration of fragments per chromosome. The preferred method uses massively parallel sequencing, which can produce tens of millions of short sequence tags in a single run and enabling a sampling that can be statistically evaluated. By counting the number of sequence tags mapped to a predefined window in each chromosome, the over- or under-representation of any chromosome in maternal plasma DNA contributed by an aneuploid fetus can be detected. This method does not require the differentiation of fetal versus maternal DNA. The median count of autosomal values is used as a normalization constant to account for differences in total number of sequence tags is used for comparison between samples and between chromosomes.

Abstract: Provided herein are methods and compositions for depleting targeted nucleic acid sequences from a sample, enriching for sequences of interest from a sample, and/or partitioning of sequences from a sample. The methods and compositions are applicable to biological, clinical, forensic, and environmental samples.

Abstract: The invention, depending on aspect and embodiment, relates to capture probe controls, and capture and signal probe configurations and combinations of configurations that can facilitate accurate and efficient multiplex analyte detection, especially in electrochemical detection schemes.

Abstract: Embodiments of the invention find application in the field of cancer therapy. Receptor protein kinases (RPTKs) transmit extracellular signals across the plasma membrane to cytosolic proteins, stimulating formation of complexes that regulate key cellular functions. Over half of the known tyrosine kinases are implicated in human cancers and are therefore highly promising drug targets.

Abstract: An improved DNA sequencing system comprising a DNA sample holder residing on a stacked BSI global shutter image sensor illuminated by a pulsed laser for fluorescent illumination detection. The pulsed laser has on and off periods wherein during the laser on period a Fluorophore tag attached to a DNA sample is excited to produce fluorescence emission while the imaging system captures no illumination and during the off period the global shutter imaging system captures persistent fluorescent emission from the DNA sample and reads out an imaging signal.

Abstract: A method, computer program product, and system for identifying a surface area size of a biosensing structure, for use in a bionsensor device, based on a plurality of nucleotides structures under test. A first set of properties are determined comprising: reaction coordinate values, and potential of mean force (PMF) values, for the plurality of nucleotide structures based on a first set of testing conditions comprising a first surface area material, a first surface area pattern, and a first surface area size. A second set of properties is determined comprising reaction coordinate values, and PMF values, for the plurality of nucleotide structures based on a second set of testing conditions comprising a second surface area material, a second surface area pattern, a second surface area size, or a combination thereof and a target population of nucleotide structures among the plurality of nucleotide structures are identified.

Abstract: Aspects of the invention provide single stranded oligonucleotides for activating or enhancing expression of MECP2. Further aspects provide compositions and kits comprising single stranded oligonucleotides for activating or enhancing expression of MECP2. Methods for modulating expression of MECP2 using the single stranded oligonucleotides are also provided. Further aspects of the invention provide methods for selecting a candidate oligonucleotide for activating or enhancing expression of MECP2.

Abstract: A nucleic acid analysis apparatus with isothermal based amplification includes a chamber, a fluid delivery unit, a thermal unit, a rotational driven unit and at least one optical unit. The chamber includes a cartridge mounted therein. The fluid delivery unit is connected with the chamber and adapted to transport reagents within the cartridge for sample purification and/or nucleic acid extraction. The thermal unit is disposed in the chamber and adapted to provide a predefined temperature for nucleic acid amplification. The rotational driven unit is connected with the chamber and capable of rotating the cartridge with a predefined program. The at least one optical unit is disposed on the chamber and includes plural optical components for detection.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.

Abstract: The invention provides a method of detecting the presence, absence or severity of a disease in a patient wherein said disease is accompanied by decreased level of S-adenosylmethionine, or increased level of S-adenosylhomocysterine, or reduced methylation index comprising: identifying any individual or a patient that is suspected of having said disease or is at risk of having said disease; obtaining a biological sample from said patient; determining the level of SAM in said biological sample using an antibody derived from a hapten analog of SAM, SAH; and correlating the levels of SAM, SAH and MI in said biological sample with the presence, absence, or severity of said disease. The invention also provides methods for determining methylation index in biological fluids which is indicative of the health status of an individual. Additionally, the invention includes colloidal gold test strips and homogenous enzyme immunoassays which are useful for determining S-adenosylmethionine and S-adenosylhomocysteine.