Abstract: Methods for diagnosing and treating autism spectral disorders are encompassed. In one embodiment, a patient is diagnosed as having autism spectral disorder if at least one CNV in an mGluR network gene is found in a patient sample. Patients with at least one mGluR network gene CNV are effectively treated with (+)-5-oxo-Dprolinepiperidinamide monohydrate (NS-105).

Abstract: The present invention is a method, comprising: obtaining a sample of an esophageal tissue from a subject, wherein the sample of the esophageal tissue comprises or is suspected of comprising a break of chromosome 2 (chr2), a break of chromosome 10 (chr10), a break of chromosome 16 (chr16), or any combination thereof, and detecting in the sample of esophageal tissue whether the break of chr2 is present, whether the break of chr10 is present, whether the break of chr16 is present, or any combination thereof, by contacting the sample of esophageal tissue with a first detectably labeled probe, a second detectably labeled probe, a third detectably labeled probe, or any combination thereof, and detecting binding between: the first detectably labeled probe and the break of chr2, the second detectably labeled probe and the break of chr10, the third detectably labeled probe and the break of chr16, or any combination thereof.

Abstract: Methods and kits for diagnosing or predicting the risk of developing psoriatic arthritis in a subject in need of such diagnosis or risk prediction are provided, comprising measuring the expression level of one or more miRNAs disclosed herein in the sample of the subject, and compared the expression level of at least one of the miRNAs in the test sample with that of the psoriatic arthritis-free sample. Also provided are methods of treating psoriatic arthritis by reducing the expression level of at least one of the miRNAs disclosed herein.

Abstract: The invention relates generally to the use of microvesicle RNA signatures for diagnosis, predicting, and/or to monitor treatment efficacy, including patients who are candidates for renal transplant and/or who have received a renal transplant.

Abstract: Provided herein are methods and systems pertaining to sequencing units of analytes using nanopores. In general, arresting constructs are used to modify an analyte such that the modified analyte pauses in the opening of a nanopore. During such a pause, an ion current level is obtained that corresponds to a unit of the analyte. After altering the modified analyte such that the modified analyte advances through the opening, another arresting construct again pauses the analyte, allowing for a second ion current level to be obtained that represents a second unit of the analyte. This process may be repeated until each unit of the analyte is sequenced. Systems for performing such methods are also disclosed.

Abstract: This invention provides methods, compositions, and kits relating to detecting donor cell-free DNA in the circulation of a transplant recipient for the early identification of transplant rejection or for detection of damage to transplant cells.

Abstract: A method of detecting a predisposition to, or the incidence of, cancer in a sample comprises detecting an epigenetic change in at least one gene selected from an NDRG4/NDRG2 subfamily gene, GATA4, OSMR, GATA5, SFRP1, ADAM23, JPH3, SFRP2, APC, MGMT, TFPI2, BNIP3, FOXE1, SYNE1, SOX17, PHACTR3 and JAM3, wherein detection of the epigenetic change is indicative of a predisposition to, or the incidence of, cancer. Also described are pharmacogenetic methods for determining suitable treatment regimens for cancer and methods for treating cancer patients, based around selection of the patients according to the methods of the invention. The present invention is also concerned with improved methods of collecting, processing and analyzing samples, in particular body fluid samples. These methods may be useful in diagnosing, staging or otherwise characterizing various diseases.

Abstract: Methods for diagnosing cancer based on detecting the presence of increased levels of expression of satellite repeats and/or Line-1.

Abstract: The present invention is based on the discovery of genetic polymorphisms that are associated with venous thrombosis. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

Abstract: Compositions and methods for the detection and treatment of inflammatory bowel disease are provided.

Abstract: The invention relates to nucleic acid probes, nucleic acid probe libraries, and kits for detecting, classifying, or quantitating components in a complex mixture of nucleic acids, such as a transcriptome, and methods of using the same. The invention also relates to methods of identifying nucleic acid probes useful in the probe libraries and to methods of identifying a means for detection of a given nucleic acid.

Abstract: Panels of 8-, 9- and 12-biomarker for diagnostic and prognostic methods to determine a subject's radiation exposure and discriminates between persons who have been exposed to radiation only, inflammation stress only, or a combination of the two.

Abstract: To specify a molecule associated with the onset of gout so as to provide a method for evaluating a diathesis of uric acid-related diseases and a diathesis of inflammation-related diseases, an evaluation kit for carrying out the method, an inspection object, and a drug, on the basis of the molecule specified above, for contributing to the early treatment and prevention of the uric acid-related diseases and inflammation-related diseases. The molecule includes any one protein and cDNA of CNIH2-PACS1, ALDH2, MYL2-CUX2, GCKR, MAP3K11, NPT4, ABCG2, HIST1H2BF/HIST1H4E, HIST1H2BE/HIST1H4D and FAM35A, or proteins of combination thereof with GLUT9, NPT1, URAT1, or NXRN2, and is capable of selectively inducing gout. A molecule includes protein and cDNA of an ABCG2 variant and is capable of selectively and ATP-dependently decreasing urate excretion.

Abstract: Compositions and methods related to transgenic glyphosate tolerant Brassica plants are provided. Specifically, the present invention provides Brassica plants having a DP-073496-4 event which imparts tolerance to glyphosate. The Brassica plant harboring the DP-073496-4 event at the recited chromosomal location comprises genomic/transgene junctions within SEQ ID NO: 2 or with genomic/transgene junctions as set forth in SEQ ID NO: 12 and/or 13. The characterization of the genomic insertion site of the event provides for an enhanced breeding efficiency and enables the use of molecular markers to track the transgene insert in the breeding populations and progeny thereof. Various methods and compositions for the identification, detection, and use of the event are provided.

Abstract: A method of predicting the ability of a salmon to utilise dietary pigment, the method comprising determining the alleles present at one or more DNA polymorphism in the salmon and predicting the ability of the salmon to utilise dietary pigment based on the determination of the alleles. The method may be used for selecting a salmon for use as broodstock. Also contemplated is a method of improving the ability of a salmon to utilise dietary pigment, the method including the step of administering an agent that inhibits the expression of the genes bcmo1-like and/or bcmo1 and/or an agent that inhibits the activities of the proteins Bcmo1-like and/or Bcmo1.

Abstract: The invention provides novel FUS/TLS nucleic acids and proteins that comprise one or more genetic markers (for example, single nucleotide polymorphisms) and methods of use thereof including methods relating to the diagnosis of ALS or other related motor neuron disease by virtue of the presence of the mutant FUS/TLS sequence(s).

Abstract: The disclosure relates to methods and compositions for identifying and/or selecting soybean plants that have resistance to lodging, have improved resistance to lodging, or are susceptible to lodging. The methods use molecular genetic markers to identify, select and/or construct resistant plants or identify and counter-select susceptible plants. Also provided are soybean plants that display resistance or improved resistance to lodging that are generated by the methods described herein. This abstract is intended as a scanning tool for purposes of searching in the particular art and is not intended to be limiting of the present disclosure.

Abstract: Provided herein according to some embodiments is a method for detecting a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region comprising measuring the length of the STR variant. In some embodiments, the method V includes obtaining a biological sample containing genomic DNA from a subject, optionally isolating the genomic DNA from the sample. Also provided is a method for determining a diagnosis or a prognosis for a neurodegenerative disease, including: measuring a length of a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region, and determining the diagnosis or prognosis based upon the length. Further provided is a method of treatment for a neurodegenerative disease including: administering a therapeutic agent to a subject based upon a length of a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region in the subject. Also provided is a kit for detecting a (STR) variant in the SOD1, TARDBP or C9orf72 gene region.

Abstract: The present invention is based on the discovery of genetic polymorphisms that are associated with cardiovascular disorders, particularly acute coronary events such as myocardial infarction and stroke, and genetic polymorphisms that are associated with responsiveness of an individual to treatment of cardiovascular disorders with statin. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

Abstract: This document relates to methods and materials for assessed, monitored, and/or treated mammals (e.g., humans) having cancer. For example, methods and materials for identifying a mammal as having cancer (e.g., a localized cancer) are provided. For example, methods and materials for assessing, monitoring, and/or treating a mammal having cancer are provided.