Abstract: Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1a, EFHC1a agonists, or EFHC1a analogs are provided.

Abstract: The invention relates to method for detecting HPV-induced high-grade precancerous lesions, HPV-induced invasive cancers and nonHPV-induced gynaecological and anogenital cancers, said method comprising detection of a methylation classifier consisting of the genes LHX8, ASCL1 and ST6GALNAC5 and their regulatory sequence in a cell whereby such hypermethylation indicates the presence of HPV-induced precursor lesions with invasive potential, HPV-induced invasive cancers and nonHPV-induced gynaecological and anogenital cancers. The invention further comprises the use of the methylation classifier consisting of genes LHX8, ASCL1 and ST6GALNAC5 and their regulatory sequence in such a method and a test kit for the detection of LHX8. ASCL1 and/or ST6GALNAC5 methylation.

Abstract: The present disclosure provides gene expression profiles that are associated with prostate cancer, including certain gene expression profiles that differentiate between subjects of African and Caucasian descent and other gene expression profiles that are common to subjects of both African and Caucasian descent. The gene expression profiles can be measured at the nucleic acid or protein level and used to stratify prostate cancer based on ethnicity. The gene expression profiles can also be used to identify a subject for prostate cancer treatment. Also provided are kits for diagnosing and prognosing prostate cancer and an array comprising probes for detecting the unique gene expression profiles associated with prostate cancer in subjects of African and/or Caucasian descent.

Abstract: Provided is a method by which a nucleic acid sample can be collected from a subject minimally invasively. A method for preparing a nucleic acid derived from a skin cell of a subject, comprising isolating the nucleic acid from skin surface lipids collected from the subject.

Abstract: The invention is directed to a method for diagnosing and treating fibrosis, especially pulmonary fibrosis, associated with mutation of the S100A13 and S100A3 genes. Methods for detecting and distinguishing the mutant forms of these genes are disclosed and ways to compensate for loss of function or aberrant function of the mutated S100A13 or S100A3 proteins are disclosed.

Abstract: The present invention relates generally to single nucleotide polymorphisms (SNP) associated with increased resistance of a rainbow trout (Oncorhynchus mykiss) to infectious pancreatic necrosis (IPN). In particular, the present invention provides methods for predicting increased resistance of a rainbow trout to infectious pancreatic necrosis (IPN) and methods for selecting a rainbow trout having increased resistant to infectious pancreatic necrosis. The present invention further provides rainbow trout, rainbow trout cells and populations thereof carrying at least one allele conferring IPN resistance (“IPN resistance allele”) in their genome as well as nucleic acid molecules comprising nucleotide sequences associated with the SNPs of the present invention.

Abstract: Described herein are methods for diagnosing and monitoring subjects with diseases associated with aberrant splicing, based upon detecting properly spliced isoforms and mis-spliced isoforms in a urine sample from the subject.

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 gastric cancer.

Abstract: A method of diagnosing severe sepsis prior to definitive clinical diagnosis. A pattern of gene expression that correlates strongly with a future diagnosis of severe sepsis and organ failure was identified in patients who had their blood drawn at first clinical presentation. The methods comprise identifying a pattern of two or more polynucleotides, whereby the altered expression of these polynucleotides correlates with prospective and actual sepsis. Also methods of identifying agents for treating sepsis based on the characteristics of this gene expression pattern are provided.

Abstract: Cancer specific DNA methylation regions have been studied to find cancer specific DNA methylation markers for most common cancers. Differentially methylated regions for individual cancer types were identified and those were further filtered against data from normal tissues to obtain marker regions with cancer specific methylation, resulting in total of 1,250 hypermethylated and 584 hypomethylated marker CpGs. Optimal sets of six markers for each TCGA cancer type that could identify most tumors with high specificity and sensitivity (AUC 0.969-1.00) were chosen from hypermethylated markers and a universal 12 marker set that can detect tumors of all 33 TCGA cancer types (AUC>0.84) was also chosen from hypermethylated markers.

Abstract: The present invention refers to an in vitro method for determining the efficacy of anti-HER2 therapy in the absence of chemotherapy in a patient with HER2+ breast cancer comprising the detection and/or quantification of the expression of HER2 in an isolated biological sample of the patient, either (1) before or (2) before and during the anti-HER2 therapy in the absence of chemotherapy treatment. The present invention also refers to the use of a gene expression product of HER2 as a as an in vitro marker for determining the efficacy of anti-HER2 therapy in the absence of chemotherapy in a patient with HER2+ breast cancer, or alternatively as an in vitro marker for deciding or recommending whether to initiate an alternative medical regime to anti-HER2 therapy without chemotherapy in a patient with HER2+ breast cancer.

Abstract: The invention relates to the prediction of a sleep parameter (e.g., sleep efficiency (SE), latency to persistent sleep (LPS), wake after sleep onset (WASO), total sleep time (TST)) of an individual and the response of such an individual to a sleep inducing compound based on the individual's PER3 variable number tandem repeat (VNTR) genotype.

Abstract: This document provides methods and materials for identifying malignant skin lesions (e.g., malignant pigmented skin lesions). For example, methods and materials for using quantitative PCR results and correction protocols to reduce the impact of basal keratinocyte contamination on the analysis of test sample results to identify malignant skin lesions are provided.

Abstract: The present invention provides compositions and methods based on genetic polymorphisms that are associated with response to statin treatment, particularly for reducing the risk of cardiovascular disease, especially coronary heart disease (such as myocardial infarction) and stroke. For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents and kits for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents and kits for their detection.

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: Methods for the rapid detection of the presence or absence of Babesia in a biological or non-biological sample are described. The methods can include performing an amplifying step, a hybridizing step, and a detecting step. Furthermore, primers and probes targeting Babesia and kits are provided that are designed for the detection of Babesia, including, but not limited to, the Babesia species of B. microti, B. divergens, B. duncani, and B. venatorum. Also described are kits, reaction mixtures, and oligonucleotides (e.g., primer and probe) for the amplification and detection of Babesia.

Abstract: A method of detecting somatic mutations of tumor marker genes includes recovering a peripheral blood mononuclear cell layer from a blood sample collected from a subject and examining whether or not a nucleic acid derived from tumor marker genes having somatic mutations is detected from DNA included in the peripheral blood mononuclear cell layer.

Abstract: Methods and compositions disclosed herein generally relate to methods of improving clinical and economic outcomes to address adverse effects related to anesthesia, analgesics, opioids, and inadequate pain relief. Embodiments of the invention relate to the association between genes, specific polymorphisms of genes, and non-genetic factors with inadequate pain relief and anesthesia-, analgesic, and/or opioid-related adverse effects. Embodiments of the invention can be used to determine and manage patient risk factors for development of adverse perioperative effects and can allow for personalized anesthesia and pain management for improvement of pain control and reduction of anesthesia-, analgesic-, and opioid-related adverse outcomes. These methods and compositions apply to non-surgical pain management with opioids.

Abstract: Provided is a means/method with which it is possible to quickly and efficiently detect bacteria that cause dental caries and evaluate dental caries. The present invention pertains to a DNA chip, etc., that carries, for example, the following probe (a) and at least one probe from among the following probes (b) and (c). (a) A probe comprising a nucleic acid that hybridizes to 16S rRNA specific to each of one or more oral bacteria to be detected, wherein the probe is any of the following sequences (i)-(iii): (i) at least one sequence selected from nucleotide sequences represented by SEQ ID NOS: 2-7; (ii) a complementary sequence of a sequence of (i); or (iii) a sequence substantially identical to a sequence of (i) or (ii). (b) A total amount indicator probe. (c) An absolute amount indicator probe of one type or a plurality of types.

Abstract: Methods for the rapid detection of the presence or absence of Babesia in a biological or non-biological sample are described. The methods can include performing an amplifying step, a hybridizing step, and a detecting step. Furthermore, primers and probes targeting Babesia and kits are provided that are designed for the detection of Babesia, including, but not limited to, the Babesia species of B. microti, B. divergens, B. duncani, and B. venatorum. Also described are kits, reaction mixtures, and oligonucleotides (e.g., primer and probe) for the amplification and detection of Babesia.