Abstract: A method, comprising amplifying a nucleic acid sequence of interest in a sample comprising genomic DNA of a subject; amplifying a reference nucleic acid sequence in the sample; quantifying the amplified sequence of interest relative to the amplified reference sequence; and determining a copy number of the sequence of interest from the relative quantified amplified sequence of interest. The reference sequence may have at least 80% sequence identity to at least one of SEQ ID NO:1-38, such as SEQ ID NO:1-13. Also disclosed are kits and compositions, each comprising a first probe which specifically hybridizes to at least a portion of at least one reference sequence. Also disclosed is a system configured to perform the above method.

Abstract: The present invention provides a composition, a kit and the use thereof, as well as the method for detecting the cell proliferative abnormality in individuals or grading the disease degree in the individuals. The composition comprises nucleic acids for detecting the methylation level within at least one target region of a gene and the fragment thereof.

Abstract: In order to interpret an arbitrary sequence region in many genes in many cells, it is necessary to degrade a nucleic acid into fragments and introduce a sequence that is different from one cell to another into each of the fragments. However, in the conventional configuration for analyzing many cells, there has been a problem that mixing of the degraded fragments among areas occurs before a tag sequence unique for each of the areas is introduced. The present invention provides a system for capturing a nucleic acid extracted from a cell in each of plural areas on a substrate and synthesizing a complementary DNA (cDNA) of the nucleic acid for each of the areas, wherein the system also includes a means for immediately introducing a tag sequence unique for each of the areas to the reaction product.

Abstract: TERT promoter mutations occur in both papillary and flat lesion bladder cancers, are the most frequent genetic alterations identified to date in noninvasive precursor lesions of the bladder, are detectable in urine, and appear to be strongly associated with bladder cancer recurrence. The TERT promoter mutations are useful urinary biomarker for both the early detection and monitoring of bladder neoplasia.

Abstract: The present invention relates to the field of post-partum depression. More specifically, the present invention relates to the use of biomarkers to diagnose post-partum depression or predict a risk thereof. In a specific embodiment, a method for identifying a likelihood of PPD in a patient comprises the steps of (a) providing a sample from the patient; (b) measuring white blood cell type counts and DNA methylation levels of a panel of biomarkers in the sample collected from the patient, wherein the panel of biomarkers comprises HP1BP3 and TTC9B and the white blood cell type counts comprise monocytes and non-monocytes; and (c) identifying the patient as likely to develop PPD based on the relative DNA methylation levels at the biomarker loci relative to the ratio of monocytes:non-monocytes.

Abstract: Provided herein are methods of determining NAT acetylation status of a subject with a 3,4-DAP-sensitive disease, methods of selecting a dose of 3,4-DAP or a pharmaceutically acceptable salt thereof adjusted to a subject's acetylation status, methods of administering 3,4-diaminopyridine or a pharmaceutically acceptable salt thereof to a patient in need thereof, and methods of treating 3,4-DAP sensitive diseases.

Abstract: The present invention relates to methods for predicting the survival time of patients with decompensated alcoholic cirrhosis. In particular, the present invention relates to a method for predicting the survival time of a patient with decompensated alcoholic cirrhosis comprising i) determining the expression level of OAS2 or MX2 in a sample of peripheral blood mononuclear cells obtained from the patient, ii) comparing the level determined at step i) with a predetermined reference value and iii) and concluding that the patient will have a short survival time when the level determined at step i) is higher than its predetermined reference value or concluding that the patient will have a long survival time when the level determined at step i) is lower than the predetermined reference value.

Abstract: The present invention relates to a method for detecting lung cancer using a lung cancer-specific biomarker, and more particularly to a biomarker for lung cancer diagnosis, which can detect methylation of PCDHGA12 gene whose 5?UTR or exon 1 region is specifically methylated in lung cancer cells, and to a method of detecting lung cancer and the stage of its progression using the biomarker. The diagnostic kit according to the present invention makes it possible to diagnose lung cancer at an early stage in an accurate and rapid manner compared to conventional methods and can be used for prognosis and monitoring of lung cancer and the stage of its progression.

Abstract: The present invention relates to a method for differentiating in a subject with HR-HPV between a severe form of HR-HPV infection and a mild form of HR-HPV infection. It further is concerned with a composition comprising a probe oligonucleotide mixture, a device, and a kit for use in conjunction with the method of the invention.

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: We surveyed 1,230 tumors of 60 different types and found that tumors could be divided into types with low (<15%) and high (?15%) frequencies of TERT promoter mutations. The nine TERT-high tumor types almost always originated in tissues with relatively low rates of self renewal, including melanomas, liposarcomas, hepatocellular carcinomas, urothelial carcinomas, squamous cell carcinomas of the tongue, medulloblastomas, and subtypes of gliomas (including 83% of primary glioblastoma, the most common brain tumor type). TERT and ATRX mutations were mutually exclusive, suggesting that these two genetic mechanisms confer equivalent selective growth advantages. In addition to their implications for understanding the relationship between telomeres and tumorigenesis, TERT mutations provide a biomarker for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.

Abstract: The invention describes epistatic interactions between single nucleotide polymorphisms on genes associated with blood pressure and provides an application for their use in a method to determine an individual's susceptibility to hypertension and hence whether anti-hypertensive treatment will be beneficial for said individual. In addition gene expression levels are also linked to blood pressure and may also be used to determine susceptibility to hypertension.

Abstract: A method relates to epigenetic markers and their diagnostic and predictive value for respiratory allergy. The method can include assaying a test sample from the patient for a DNA hypermethylation or hypomethylation of at least GLI2 region, in which hypermethylation or hypomethylation of the gene region in the test sample indicates or predicts a respiratory allergy in the patient.

Abstract: Panels of biomarkers, methods and systems are disclosed for determining gene expression, and diagnosing and treating melanoma.

Abstract: The methods and compositions described herein address the need for diagnostic method that could be offered to women during yearly checkups to allow for early detection, diagnosis and classification, and treatment of endometrial cancer. In addition, these methods and compositions address the current need for improving diagnostic accuracy of biopsy procedures in symptomatic patients.

Abstract: This disclosure relates to a circulating tumour cell typing and identification kit, comprising a capture probe, an amplification probe, and a labeled probe for each marker gene mRNA, wherein the marker gene mRNA comprises the following two types: at least two epithelial cell marker gene mRNAs selected from the group consisting of EPCAM, E-cadherin, CEA, KRT5, KRT7, KRT17, and KRT20 mRNAs; and, at least two mesenchymal cell marker gene mRNAs selected from the group consisting of VIMENTIN, N-cadherin, TWIST1, AKT2, ZEB2, ZEB1, FOXC1, FOXC2, SNAI1 and SNAI2 mRNAs. This disclosure prevents false-positive results caused by, for example, possible presence of a number of non-neoplastic epithelial cells in peripheral blood, introduction of normal epithelial cells during blood sampling, and the like.

Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.

Abstract: A method for detecting T-cell lymphoma characterized in that gene mutations of at least one base selected from a group comprising base numbers 50, 331, 334, and 482 or gene mutations of base numbers 49 to 51 in the base sequence of an RHOA gene collected from a subject are analyzed, and the analysis results and T-cell lymphoma are associated with each other.

Abstract: Methods for treating patients with squamous cell lung cancer, including detecting the presence of mutations in the discoidin domain receptor 2 (DDR2) gene.

Abstract: The present invention relates, in general, to gene expression profiles, and in particular, to a gene expression profile of an environmental exposure, ionizing radiation. The invention further relates to methods of screening patients for radiation exposure based on gene expression profiling and to kits suitable for use in such methods.