Abstract: This disclosure provides new genetic targets, diagnostic methods, and therapeutic treatment regimens for multiple autoimmune disorders, including pediatric autoimmune disorders that are co-inherited and genetically shared. The disclosure, for example, provides methods of diagnosing or determining a susceptibility for one or more autoimmune diseases and methods of determining treatment protocols for patients with one or more autoimmune diseases based on determining if the patients have genetic alterations in particular genes.

Abstract: The invention provides methods, compositions, kits and devices for the detection of target molecules. In some embodiments, the invention allows for multiplexed target molecule detection.

Abstract: High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.

Abstract: Disclosed herein are compositions and methods related to the elimination of molecules of a selected sequence from a nucleic acid sample or from an sequence dataset resulting from the sequencing of a sample, for example to exclude such molecules from downstream analysis or sequencing, or to exclude such sequences from a downstream data set.

Abstract: Systems and methods are disclosed for monitoring models for bias. In one implementation, a system for automatically assessing a deployed model for selection of a cohort may include a processing device programmed to: apply the deployed model to data representing a first plurality of individuals, the data including at least one characteristic of the first plurality of individuals; based on the application, select a subset of the first plurality of individuals as a cohort; receive data representing a second plurality of individuals labeled as within the cohort, the data including the at least one characteristic of the second plurality of individuals; compare the selected subset and the second plurality of individuals along the at least one characteristic; and determine whether the comparison results in a difference between the selected subset and the second plurality of individuals greater than a threshold.

Abstract: The present disclosure relates to constructs, such as antibody molecules comprising a binding domain specific to CD45, said binding domain comprising SEQ ID NO: 1, 2, 3 and/or SEQ ID NO: 4, 5 and 6. The disclosure also extends to pharmaceutical compositions comprising said constructs and use of the constructs/compositions in treatment.

Abstract: The invention provides methods, compositions, kits and devices for the detection of target molecules. In some embodiments, the invention allows for multiplexed target molecule detection.

Abstract: Provided herein are methods, compositions, and kits for the detection of immune cell clonotypes and immune cell analytes within a biological sample.

Abstract: The invention relates to a method for the specific detection of a microorganism or a group of microorganisms via in situ hybridisation by means of flow cytometry.

Abstract: Compositions, kits and methods for detecting a plurality of targets are provided herein. A probe-set composition is provided, including one or more first probes and one or more second probes. Each of the first probe includes a nucleic acid sequence complementary to a nucleic acid barcode of a corresponding target-specific binding partner, a first label, and a cleavage site for a first cleavage agent, wherein the first cleavage agent is capable of releasing the first label. Each of the second probes includes a nucleic acid sequence complementary to a nucleic acid barcode of a corresponding target-specific binding partner, a second label, a quench moiety that renders the second label undetectable, and a cleavage site for the first cleavage agent. The first cleavage agent is capable of releasing the quench moiety, whereby the second label is rendered detectable.

Abstract: The present disclosure provides a method of modifying a mutant dystrophin gene in the genome of a cell. The present disclosure further provides compositions and kits for modifying a mutant dystrophin gene in the genome of a cell.

Abstract: There is described herein a method for specifically detecting Babesia species nucleic acid in a sample, which in one aspect comprises: (1) contacting a sample, said sample suspected of containing Babesia species nucleic acid, with at least two oligomers for amplifying a target region of a Babesia species target nucleic acid, wherein the at least two amplification oligomers comprise: (a) a first amplification oligomer comprising a first target-hybridizing sequence (i) that is from about 15 to about 33 contiguous nucleotides in length, is contained in the sequence of SEQ ID NO:66 and comprises SEQ ID NO:56 or 57; or (ii) that is from about 15 to about 33 contiguous nucleotides in length, is contained in the sequence of SEQ ID NO:96 and comprises SEQ ID NO:101; or (iii) that is from about 15 to about 33 contiguous nucleotides in length, is contained in the sequence of SEQ ID NO:97 and comprises SEQ ID NO:101; (iv) comprises or consists of SEQ ID NO:8; (v) comprises or consists of SEQ ID NO:83 and (b) a second am

Abstract: A chip includes a micro-channel unit for hydraulically classifying cells in a blood sample. In a micro-channel unit, liquid flowing from a sub channel into a main channel pushes cells flowing in the main channel toward a side thereof on which a removal channel and a collection channel are disposed. Fluid containing non-nucleated RBCs among the pushed cells enters the removal channel, so that the non-nucleated RBCs are removed from a blood sample. A plurality of micro-channel units having the same patterns as each other are repeatedly stacked in a height direction. Inlets of the main channels, inlets of the sub channels, outlets of the removal channels, outlets of the collection channels, and outlets of the main channels, which are provided in the micro-channel units, are connected to respective pillar channels penetrating each of layers in a traversing manner.

Abstract: The present invention relates to a method, in particular an in vitro method, for identifying specific immune cells, in particular naïve CD8+ T-cells, comprising analyzing the methylation status of at least one CpG position in the mammalian gene region for endosialin (CD248), wherein a demethylation or lack of methylation of said gene region is indicative for a naïve CD8+ T-cell, when compared to a non-naïve CD8+ T-cell or any other (blood) cell type. The analyses according to the invention can identify naïve CD8+ T-cells on an epigenetic level and distinguish them from all other cells in complex samples, such as, for example, other blood or immune cells. The present invention furthermore provides an improved method for quantifying naïve CD8+ T-cells, in particular in com naïve CD8+ T-cells complex samples. The method can be performed with or without a step of purifying and/or enriching cells, preferably in whole blood and/or non-trypsinized tissue.

Abstract: Some embodiments provided herein include methods and compositions for the detection of target ligands on an array. In some embodiments, a capture probe specifically binds to a target ligand from a sample, the location of a bead comprising the capture probe in an array is determined, and the bead is decoded to identify the capture probe and the sample. In some embodiments, a barcode is indicative of a capture probe attached to a bead; and an index is indicative of a subpopulation of beads. In some embodiments, the barcode and the index are determined by sequencing.

Abstract: Compositions useful for the detection of single molecules in a sample are provided. In some aspects, the disclosure provides a nucleic acid connected to a nucleotide and two or more luminescent labels. In some embodiments, the nucleic acids described herein comprise one or more structural features that provide enhanced fluorescence intensity. In some aspects, methods of sequencing using the labeled nucleotides of the disclosure are provided.

Abstract: The present disclosure provides a method of amplifying a target nucleic acid, wherein the method comprises: (a) providing a reaction mixture comprising: (i) a nucleic acid sample comprising or suspected of comprising the target nucleic acid, (ii) multiple primer pairs, wherein at least one primer of each type of primer pairs is complementary to a portion of the target nucleic acid, and each primer pair has at least one blocking primer comprising a blocking group capable of blocking polymerase extension, (iii) nucleic acid polymerase, and (iv) de-blocking agent capable of enabling polymerization of the target nucleic acid by said nucleic acid polymerase using the blocking primers; and (b) incubating the reaction mixture under a condition for amplification of the target nucleic acid and a kit used for the method. The present disclosure further provides a method of sequencing a target nucleic acid and a kit used for the method.

Abstract: The present invention relates to chirally controlled oligonucleotides, chirally controlled oligonucleotide compositions, and the method of making and using the same. The invention specifically encompasses the identification of the source of certain problems with prior methodologies for preparing chiral oligonucleotides, including problems that prohibit preparation of fully chirally controlled compositions, particularly compositions comprising a plurality of oligonucleotide types. In some embodiments, the present invention provides chirally controlled oligonucleotide compositions. In some embodiments, the present invention provides methods of making chirally controlled oligonucleotides and chirally controlled oligonucleotide compositions.

Abstract: The present invention provides novel compositions and methods for assessing the size of tandem repeat sequences, e.g., telomeres, within a genome, using specially designed Molecular Inversion Probes (MIPs) and reaction conditions.

Abstract: Systems for identifying threat materials such as CBRNE threats and locations are provided. The systems can include a data acquisition component configured to determine the presence of a CBRNE threat; data storage media; and processing circuitry operatively coupled to the data acquisition device and the storage media. Methods for identifying a CBRNE threat are provided. The methods can include: determining the presence of a CBRNE threat using a data acquisition component; and acquiring an image while determining the presence of the CBRNE threat. Methods for augmenting a real-time display to include the location and/or type of CBRNE threat previously identified are also provided. Methods for identifying and responding to CBRNE threats are provided as well.

Abstract: An apparatus for label-free analysis of molecules, including interactions and reactions of the molecules, is disclosed. The apparatus is based on detecting molecule movement under the influence of an external electric field. The apparatus is able to achieve sensitive detection of molecular binding to proteins or other molecules, and conformational changes of proteins or other molecules and biochemical reactions of the proteins or other molecules. Applications of the apparatus include screening of drug molecules, kinetic analysis of posttranslational modification of proteins, and small molecule-protein interactions.

Abstract: Provided herein are methods, compositions, and kits for forming amplification products. In various embodiments provided herein, transposomes comprising transposases are used in forming tagged polynucleotides for downstream amplification and polynucleotide processing steps.

Abstract: Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of maternal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.

Abstract: In a fluorescent in-situ hybridization imaging system performs, as nested loops, the following: (1) a valve sequentially couples a flow cell to a plurality of different reagent sources to expose the sample to a plurality of different reagents, (2) for each reagent of the plurality of different reagents, a motor sequentially positions the fluorescence microscope relative to sample at a plurality of different fields of view, (3) for each field of view of the plurality of different fields of view, a variable frequency excitation light source sequentially emits a plurality of different wavelengths, (4) for each wavelength of the plurality of different wavelengths, an actuator sequentially positions the fluorescence microscope relative to sample at a plurality of different vertical heights, and (5) for each vertical height of the plurality of different vertical heights, an image is obtained.

Abstract: A fluorescent in-situ hybridization imaging and analysis system includes a flow cell to contain a sample to be exposed to fluorescent probes in a reagent, a fluorescence microscope to obtain sequentially collect a plurality of images of the sample at a plurality of different combinations of imaging parameters, and a data processing system. The data processing system includes an online pre-processing system configured to sequentially receive the images from the fluorescence microscope as the images are collected and perform on-the-fly image pre-processing to remove experimental artifacts of the image and to provide RNA image spot sharpening, and an offline processing system configured to, after the plurality of images are collected, perform registration of images having a same field of view and to decode intensity values in the plurality of images to identify expressed genes.

Abstract: High surface area coatings are applied to solid substrates to increase the surface area available for solid-phase synthesis of polymers. The high surface area coatings use three-dimensional space to provide more area for functional groups to bind polymers than an untreated solid substrate. The polymers may be oligonucleotides, polypeptides, or another type of polymer. The solid substrate is a rigid supportive layer made from a material such as glass, a silicon material, a metal material, and plastic. The coating may be thin films, hydrogels, microparticles. The coating may be made from a metal oxide, a high-? dielectric, a low-? dielectric, an etched metal, a carbon material, or an organic polymer. The functional groups may be hydroxyl groups, amine groups, thiolate groups, alkenes, n-alkenes, alkalines, N-Hydroxysuccinimide (NHS)-activated esters, polyaniline, aminosilane groups, silanized oxides, oligothiophenes, and diazonium compounds.

Abstract: Disclosed are a tumor biomarker and application thereof, and a tumor detection kit. Patients suffering from non-small cell lung cancer, containing an EML4-ALK or SLC34A2-ROS1 fusion gene, have a specific circular RNA in blood. The base sequences of the circular RNA are represented by SEQ ID NOS. 1-6. The circular RNA is associated with non-small cell lung cancer, stably and constantly exists in plasma samples, and has high specificity and effectiveness, and thus can be used as a biomarker for tumor detection. Reagents such as primers and probes for detecting the circular RNA can be used for preparing the tumor detection kit.

Abstract: The invention described herein provides biological markers for the diagnosis, prognosis, and monitoring of prostate cancer.

Abstract: Computer based methods, systems, and computer readable media for providing genomic services are provided. A request is received from a user. The request is applied to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines. Data from the applied request is integrated with results from service modules performing one or more from a group of content search, variation interpretation, and report generation to produce results for the request. The personalized data repository and supporting knowledge bases are updated based on the results of the request. Surveillance services are triggered based on one or more events.

Abstract: A biosensor pixel for measuring current that flows through the electrode surface in response to electrochemical interactions and a biosensor array architecture that includes such biosensor pixels. The biosensor pixel includes an electrode transducer configured to measure a current generated by electrochemical interactions occurring at a recognition layer placed directly on top of it in response to an electrical voltage placed across an electrode transducer-electrolyte interface. The biosensor pixel further includes a trans-impedance amplifier connected to the electrode transducer, where the trans-impedance amplifier is configured to convert the current into a voltage signal as the electrochemical interactions occur.

Abstract: The present invention pertains to: an oligonucleotide preservation method; and a kit comprising an oligonucleotide. The present invention provides a method for stably preserving an oligonucleotide-containing solution by adding a nucleic acid-binding protein to said oligonucleotide-containing solution in advance.

Abstract: This disclosure relates to oligonucleotides, compositions and methods useful for reducing GYS2 expression, particularly in hepatocytes. Disclosed oligonucleotides for the reduction of GYS2 expression may be double-stranded or single-stranded, and may be modified for improved characteristics such as stronger resistance to nucleases and lower immunogenicity. Disclosed oligonucleotides for the reduction of GYS2 expression may also include targeting ligands to target a particular cell or organ, such as the hepatocytes of the liver, and may be used to treat glycogen storage diseases (e.g., GSDIa, GSDIII, GSDIV, GSDVI, and GSDIX) and related conditions.

Abstract: Systems and methods for scoring and visualizing the effects of variants in biological sequences. Variants may include substitutions, insertions and deletions. The method comprises encoding biological sequences as vector sequences and then operating a neural network in the forward-propagation mode and possibly in the back-propagation mode to compute variant scores. Variant scores are determined by normalizing the gradients. Variant scores may be used to select a subset of variants, which are then used to produce modified vector sequences which are analyzed by the neural network operating in forward-propagation mode, to determine improved variant scores. The variant scores may be visualized using black and white, greyscale or colored elements that are arranged in blocks with dimensions corresponding to different possible symbols and the length of the sequence. These blocks are aligned with the biological sequence, which is illustrated by a symbol sequence arranged in a line.

Abstract: The present disclosure provides for and relates to the identification of novel biomarkers for diagnosis and prognosis of prostate cancer or the biochemical reoccurrence of prostate cancer. The biomarkers of the invention show altered methylation levels of certain CpG loci relative to normal prostate tissue, as set forth.

Abstract: The object of the invention is to provide a method for easily and objectively detecting mood disorders in a subject by measuring the expression levels of prescribed genes in the peripheral blood of the subject, the reliability of the detection result being high. The invention also provides a method for detecting mood disorders in a subject, the method having a step for measuring the gene expression levels of ribosomal protein genes, CDKN1C, or any combination thereof in the peripheral blood derived from the subject, and detecting whether or not the subject has mood disorders on the basis of the measurement results.

Abstract: Disclosed are compositions, methods, and kits for modifying DNA within cells as well as compositions and methods for modifying gene expression in a cell. In particular, the invention generally relates to compositions, methods, and kits for DNA editing using single-stranded DNA. Compositions and methods for modifying gene expression using artificial microRNAs (amiRNA) are also contemplated.

Abstract: An electrospinning approach is disclosed for generating a dissolvable formulation of a reagent of interest in a nanoscale fiber medium. In one embodiment, the nanoscale fibers can incorporate and stabilize biological agents of interest, such as for storage at room temperature for extended periods. In one implementation, the fibers can be produced in a continuous manner and dissolve rapidly.

Abstract: In one aspect, the invention features a combination of oligonucleotides comprising a forward primer oligonucleotide and a blocking oligonucleotide. The forward primer oligonucleotide has a 3? end region, where the 3? end region includes a portion complementary to a mutation positioned in a region within a polynucleotide. The blocking oligonucleotide contains a blocking moiety and has a 5? end region, where the 5? end region includes a portion complementary to a wild-type sequence of the region corresponding to the position of the mutation. In other aspects, the invention provides kits including the combination of primer oligonucleotides and methods of using the oligonucleotides to detect a mutation in a polynucleotide.

Abstract: Disclosed are compositions, methods, and kits for modifying DNA within cells as well as compositions and methods for modifying gene expression in a cell. In particular, the invention generally relates to compositions, methods, and kits for DNA editing using single-stranded DNA. Compositions and methods for modifying gene expression using artificial microRNAs (amiRNA) are also contemplated.

Abstract: The present technology generally relates to methods and compositions relevant to the prediction that a subject with and/or after treatment for DCIS will experience a subsequent ipsilateral breast event that is a DCIS recurrence, an invasive breast cancer, both a DCIS recurrence and invasive cancer, or neither. The technology can assist one with how to treat such subjects.

Abstract: In accordance with an embodiment of the invention, a system and method is provided for determining a probability of a progeny having one or more phenotypes Phj each associated with a single gene Qj. A score sip may be assigned to each allele hip at a plurality of genetic loci (i) in a haploid genome profile Hp of a parent (p). A plurality (Nj) of the alleles hkp (k=1, . . . , Nj) associated with the gene Qj may be identified. The scores sip may be mapped or indexed to gene-specific scores ?j,kp associated with gene Qj for the plurality of (Nj) alleles hkp. A probability may be computed for altering the gene product from gene Qj in a progeny of the parent (p) to be a function of the gene-specific scores ?j,kp.

Abstract: Methods for generating cells of the inner ear, e.g., hair cells and supporting cells, from stem cells, e.g., mesenchymal stem cells, are provided, as well as compositions including the inner ear cells. Methods for the therapeutic use of the inner ear cells for the treatment of hearing loss are also described.

Abstract: Provided herein is a 3-dimensional lattice microarray system for DNA sequence detection and analysis. The system has a plurality of bifunctional polymer linkers, on one end of which are attached nucleic acid probes where each have a sequence complementary to signature nucleotide sequences in pathogens, plants or animals. The other end of the bifunctional polymer linker is attached to a solid support by non-covalent or covalent means. Each of the nucleic acid probes have terminal thymidine bases at the 5? and 3? ends that permit attachment of the probes to the bifunctional polymer linkers. Also provided is a method for fabricating the microarray system by first attaching the bifunctional polymer linkers to the solid support, followed by photochemical coupling of the nucleic probes to the microarray. A customizable microarray kit is provided that contains the solid support, linkers, probes, solvent mixture and instructions to use the kit.

Abstract: An impedance measurement system for detecting an analyte in a sample is disclosed. The system includes first, second, and third electrodes, wherein at least a portion of the third electrode is positioned between the first and second electrodes, means for generating an electromagnetic field between the first and second electrodes, means for electrically controlling the third electrode, wherein the third electrode modifies the electromagnetic field, and a processor for detecting a presence of the analyte in the sample, based at least in part on a property of the electromagnetic field.

Abstract: The disclosure pertains to a system 100 and method for collecting and measuring particles in exhaled air. The system 100 is arranged to allow for examination of the full or substantially the full volume of each exhalation of a subject.

Abstract: Methods and systems for security, authentication, tagging, and tracking using nucleic acid (e.g., deoxyribonucleic acid) molecules encoding information. Unique nucleic acid molecules are efficiently produced from pre-fabricated fragments to quickly produce libraries of nucleic acid molecules encoding encrypted or randomized information. Physical objects or artifacts can be tagged with libraries to authenticate the objects, grant access to secured assets or locations, or track the objects or entities. Chemical methods can be applied to verify authenticity, decrypt, or decode information stored in the libraries.

Abstract: The present invention provides a method for producing a unilocular adipocyte including inducing differentiation into unilocular adipocytes of mesenchymal cells having differentiation potency into adipocytes by culturing the mesenchymal cells in suspension in a liquid medium composition capable of culturing cells or tissues in suspension, wherein the liquid medium composition contains a polymer compound having an anionic functional group that binds via a divalent metal cation to form a structure capable of suspending cells or tissues, and the method wherein the polymer compound is polysaccharide, preferably polysaccharide containing a glucuronic acid moiety, more preferably deacylated gellan gum, diutan gum or xanthan gum or a salt thereof.

Abstract: This document relates to methods and materials for detecting premalignant and malignant neoplasms. For example, methods and materials for determining whether or not a stool sample from a mammal contains nucleic acid markers or polypeptide markers of a neoplasm are provided.

Abstract: The present invention relates to a biomarker for diagnosis of overactive bladder (OAB) disease, and a method for screening a drug using the biomarker. The markers described in the present invention can effectively detect or diagnose the onset of OAB by distinguishing them from normal populations. In particular, OAB-specific protein markers released into urine enable simple and rapid OAB diagnosis in a non-invasive manner. In addition, by selecting an agent that changes, particularly normalizes the expression and activity of the markers selected in the present invention, more effective preventative or therapeutic agents of OAB disease can be screened.

Abstract: The present invention relates to a method for the diagnosis and/or the follow up of the evolution of cancer, which includes the analysis and quantification of over expressed and amplified genes in the plasma/serum of cancer patients or persons suspected to harbor cancer. This is achieved by analyzing together the amount of DNA and RNA of certain genes in the plasma/serum of cancer patients that are the reflection of a gene amplification and/or a gene over expression in comparison to healthy controls.