Abstract: The present disclosure is generally related to neurofibromatosis type 1. More particularly, disclosed herein are methods for detecting behavioral disorders, methods for detecting cognitive impairment, and methods for detecting brain neurofibromin-dependent dopaminergic signaling associated with neurofibromatosis type 1.

Abstract: This invention provides a technology for isolating nucleic acids from wax-embedded samples that is superior to the current state of the art. Standard protocols with this objective typically comprise dissolving the wax-embedded sample in an organic solvent, extracting nucleic acids from the organic solvent into an aqueous buffer, and isolating the nucleic acids from the aqueous buffer. The technology described here includes using hexadecane as the solvent to dissolve the sample, precipitating and washing the extracted nucleic acids, and dissolving the nucleic acids in a lysis buffer that includes NP40 and SDS. By implementing the reagents and techniques described in this disclosure, the user can obtain a product that has better yield, less degradation, and contains more unique mRNA transcripts for subsequent sequencing and analysis.

Abstract: The present invention relates to the technical field of organ and tissue transplantation and specifically to methods allowing rejection of transplanted organs and tissues by a transplant patient. The present invention provides methods for non-invasive and ex vivo or in vitro detection of the presence or absence of transplant rejection, i.e. transplant health or rejection. The present methods allow for effective and continuous monitoring of transplant status with a minimal or absent discomfort for a transplant patent.

Abstract: The invention provides microRNA markers and methods for determining the risk a subject has for developing mild traumatic brain injuries (mTBI). In some aspects, the methods further include determine the fitness of a subject for participating in an activity with increased chances of receiving a head impact. Certain embodiments are directed to kits designed for these purposes.

Abstract: The present application relates to detection of changes in the number of nucleotides in short homopolymeric nucleic acid repeats, in particular in short homopolymeric microsatellites, for example for the purpose of diagnosing microsatellite instability (MSI) and/or mismatch repair (MMR-) deficiency in tumors. Accordingly, methods are provided for detecting changes in the number of nucleotides present in short homopolymeric nucleotide repeat sequences as well as kits and cartridges for automated detection of said changes.

Abstract: This disclosure provides mutant genes related to drug resistance and relapse of acute lymphoblastic leukaemia (ALL) and a use thereof, treatment or prevention of drug resistance and relapse of ALL and a use thereof, a use of compound Lometrexol and related inhibitors targeting GART and AITC in prevention and treatment of drug resistance and relapse of ALL, and a kit for evaluation of the risk of drug resistance and relapse of ALL. The mutation gene is a mutant gene of PRPS1. The drug acts on enzymes in purine synthesis pathway and reduces drug resistance and relapse by decreasing the concentration of hypoxanthine. The kit comprises reagents for lysis of sample cells and an instruction. The invention provides a powerful technical means and support for the prevention and treatment of drug resistance and relapse of ALL.

Abstract: Provided is a method for modifying a ssRNA at the 3? end, the method including contacting the strand with a ssRNA 2?-O-methyltransferase in the presence of a co-factor, under conditions which allow for the transfer by the ssRNA 2?-O-methyltransferase of a part of the co-factor onto the 3? end of the ssRNA to form a modified ssRNA, wherein the ssRNA bears 2?-OH group at 3? terminal nucleotide and wherein the part of the co-factor transferred includes a reporter group or a functional group.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: Provided herein are specially modified blocking nucleotides allowing for the sensitive detection of low copies of variant sequences, while significantly reducing signals from non-variant sequences that are similar but not identical to the variant sequence. These nucleotides can be used to detect rare variants in a sample mixture, as described in the present methods.

Abstract: The invention is a novel method of isolating long nucleic acids from samples suitable for nucleic acid sequencing. The method is especially suitable for isolating low-concentration nucleic acids, e.g., viral nucleic acids, from clinical samples.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: The present invention relates to compositions and methods for treating, screening and diagnosing macular degeneration in a subject. This is a new pathway found which is the only one known to be involved in development of the human macula. Manipulation and control of this pathway will allow rebuilding and/or repair of the macula, making new and improved better maculae.

Abstract: A method for identifying target alleles, that includes steps of (a) forming a plurality of stabilized ternary complexes at a plurality of features on an array, wherein the stabilized ternary complexes each has a polymerase, a template nucleic acid having a target allele of a locus, a primer hybridized to the locus, and a next correct nucleotide having a cognate in the locus, wherein either (i) the primer is an allele-specific primer having a 3? nucleotide that is a cognate nucleotide for the target allele, or (ii) the primer is a locus-specific primer and the next correct nucleotide hybridizes to the target allele; and (b) detecting stabilized ternary complexes at the features, thereby identifying the target alleles.

Abstract: Gene expression signatures correlating to ICOS expression levels are provided. Methods of treatment comprising determining ICOS expression levels using gene signatures in patients and administering anti-ICOS antibodies are also provided.

Abstract: The invention provides methods and devices for determining molecular signatures in a cancer that predict response to a MARPK pathway inhibitor and methods of use of such signatures.

Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.