Abstract: A method of predicting the risk of a patient for developing phenytoin-induced adverse drug reactions (ADRs), including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), or drug reactions with eosinophilia and systemic symptoms (DRESS) is disclosed. Genetic polymorphisms of CYP2C genes (including rs1057910 (CYP2C9*3) and rs3758581 on CYP2C19), and HLA alleles (including HLA-B*1502, HLA-B*1301, and HLA-B*5101) can predict adverse reactions caused by phenytoin or fosphenytoin. Accordingly, the present invention provides a kit to assess the risk of a patient for developing adverse reactions in response to phenytoin-related drugs, which comprises the determination of the presence of a specific allele selected from the group consisting of rs1057910 (CYP2C9*3), rs3758581 on CYP2C19, HLA-B*1502, HLA-B*1301, and HLA-B*5101, wherein the presence of at least one allele is indicative of a risk for the adverse drug reactions.

Abstract: The present invention provide methods using genes associated with multi-drug resistance for rapidly detecting a patient colonized or infected with an multi-drug resistant organism and administrating the appropriate precautions and/or treatment.

Abstract: Methods of treating a tumor in a subject and methods of determining a treatment regimen for a subject with a tumor are provided herein. In exemplary aspects, the methods comprise measuring the level of expression of immunoglobulin, FCGR2B, a gene listed in Table 4, or a combination thereof. In exemplary aspects, the subject is a subject from which a sample was obtained, wherein the level of immunoglobulin, FCGR2B, a gene listed in Table 4, or a combination thereof, has been measured from the sample. Related kits, computer readable-storage media, systems, and methods implemented by a processor in a computer are further provided.

Abstract: Methods and kits for diagnosing and/or treating a lower respiratory infection in a subject include obtaining a biological sample from the subject; detecting RNA expression levels of one or more biomarkers in the biological sample and comparing the expression levels of the one or more three biomarkers to at least one invariant control marker wherein an increase or decrease in the level of expression of the one or more biomarkers as compared to the at least one invariant control marker is indicative of a lower respiratory infection.

Abstract: Provided herein is technology relating to genetic determinants of disease and particularly, but not exclusively, to methods, compositions, and systems for identifying single nucleotide polymorphisms that are functionally associated with a disease.

Abstract: Compositions and methods for the detection and treatment of ADHD are provided.

Abstract: The present invention is directed to methods of prognosing, treating, or managing treatment of cancer in a subject. These methods involve selecting a subject having cancer, obtaining, from the selected subject, a sample containing exosomes, recovering the exosomes from the sample, and isolating the double-stranded DNA from within the exosomes. The isolated double-stranded DNA is then used to detect the presence or absence of one or more genetic mutations associated with cancer, quantify the amount of isolated double-stranded DNA from the recovered exosomes in the sample, detect the methylation status of the isolated double-stranded DNA, or quantify the amount isolated double-stranded DNA able to enter a recipient cell. The prognosing, treating, or managing treatment is carried out based on this information.

Abstract: The present invention relates to a method for diagnosis of Inflammatory Bowel Disease (IBD) based on the determination of expression profiles of miRNAs representative for diagnosis of IBD compared to a reference. In addition, the present invention relates to a kit for diagnosis of IBD comprising means for determining expression profiles of miRNAs representative for IBD.

Abstract: Pancreatic adenocarcinoma has the worst overall mortality of any solid tumor, with only 7% of patients surviving after 5 years. To evaluate the clinical implications of genomic alterations in this low cellularity tumor type, we deeply sequenced the genomes of 101 enriched pancreatic adenocarcinomas from patients who underwent potentially curative resections and used non-invasive approaches to examine tumor specific mutations in the circulation of these patients. These analyses revealed somatic mutations in chromatin regulating genes including MLL and ARID1A in 20% of patients that were associated with improved survival. Liquid biopsy analyses of cell free plasma DNA revealed that 43% of patients with localized disease had detectable circulating tumor DNA (ctDNA) in their blood at the time of diagnosis. Detection of ctDNA after resection predicted clinical relapse and poor outcome, and disease recurrence by ctDNA was detected 6.5 months earlier than with standard CT imaging.

Abstract: Methods of isolating DNA of a fetus of an ongoing pregnancy are provided according to the present invention which include obtaining a maternal endocervical sample containing maternal cells and fetal extravillous trophoblast cells from a pregnant subject; isolating fetal extravillous trophoblast cells from the maternal endocervical sample, producing isolated fetal extravillous trophoblast cells contaminated with maternal DNA; lysing the isolated fetal extravillous trophoblast cells; isolating fetal nuclei from the lysed fetal extravillous trophoblast cells, producing isolated fetal nuclei, thereby removing at least a portion of the contaminating maternal DNA; and purifying genomic DNA from the isolated fetal nuclei, producing purified fetal genomic DNA. The purified fetal genomic DNA can be assayed to determine a characteristic of a genomic DNA sequence of the purified fetal genomic DNA, thereby determining a characteristic of DNA of a fetus of an ongoing pregnancy.

Abstract: Methods and reagents for determining a subject's predisposition for refractive error based on the presence of opsin gene exon 3 splicing defects are provided. In one aspect, the invention provides methods for determining a subject's predisposition for refractive error comprising: (a) testing a biological sample obtained from the subject to determine exon 3 splicing defects in one or more opsin gene; and (b) correlating the exon 3 splicing defects in the one or more opsin gene with a predisposition for refractive error.

Abstract: The present invention relates to a method, in particular an in vitro method, for identifying CD8 positive subpopulations of a mammal, wherein said method comprises analyzing the bisulfite convertibility of at least one CpG position in the CD8 beta and CD8 alpha cell specific bisulfite convertibility gene region according to SEQ ID No. 1 and 2, wherein a bisulfite convertibility of at least one CpG position in said gene regions is indicative for a CD3+CD8+ and/or CD3+/?CD8+ cell. The analyses according to the invention can identify CD3+CD8+ and/or CD3+/?CD8+ cells on an epigenetic level and distinguish them from all other cells in complex samples, such as, for example, other blood cells.

Abstract: Techniques are provided for detecting hematological disorders using cell-free DNA in a blood sample, e.g., using plasma or serum. For example, an assay can target one or more differentially-methylated regions specific to a particular hematological cell lineage (e.g., erythroblasts). A methylation level can be quantified from the assay to determine an amount of methylated or unmethylated DNA fragments in a cell-free mixture of the blood sample. The methylation level can be compared to one or more cutoff values, e.g., that correspond to a normal range for the particular hematological cell lineage as part of determining a level of a hematological disorder.

Abstract: Disclosed are methods of, and assay and kits for, detecting and diagnosing arterial plaque rupture using the expression of miR-222, mi-221 and circ284. Also disclosed are methods of treating arterial plaque rupture and methods of identifying agents for use thin the treatment of arterial plaque rupture.

Abstract: Methods and compositions for detection of Neisseria gonorrhoeae are disclosed herein. In some embodiments, the presence or absence of N. gonorrhoeae in a sample is determined using nucleic acid-based testing methods using primers and/or probes that bind to opcA gene region of N. gonorrhoeae.

Abstract: Embodiments of the invention provide a method of genotyping a C. gattii sample, which can include forming a plurality of mixtures for nucleic amplification. The method can include amplification of specific sequences within the C. gattii genome that can provide definitive genotype information to distinguish between one or more types or subtypes of C. gattii.

Abstract: Disclosed is a method for assisting the detection of Alzheimer's disease or mild cognitive impairment, the method for assisting the highly accurate detection of Alzheimer's disease or mild cognitive impairment. In the method for assisting the detection of Alzheimer's disease or mild cognitive impairment, the amount of at least one miRNA selected from miR-122, miR-144, let-7f, miR-128-3p and miR-107 contained in a test sample separated from a living body is used as an indicator. A larger amount of miR-122 than that in a healthy individual, or a smaller amount of at least one miRNA selected from miR-144, let-7f, miR-128-3p and miR-107 than that in a healthy individual is indicative that the living body is more likely to have developed Alzheimer's disease or mild cognitive impairment.

Abstract: This document provides methods and materials related to treating subjects having specific genetic variations associated with neurological disorders such as Parkinson's disease.

Abstract: The disclosure concerns a prognostic method for determining at least one, or a combination, of the following: time to first treatment, response to treatment or overall survival for a patient presenting with a disease including or characterised by telomere shortening, including an assessment of the longest mean telomere length at which telomere end-end fusion events can be detected and then a determination of the mean telomere length in the fusogenic range (i.e. the range below that mean telomere length at which telomere end-end fusion events can be detected) and the subsequent use of the mean telomere length in the fusogenic range as a prognostic indicator.

Abstract: Heritable mutations in the BRCA1 and BRCA2 and other genes in the DNA double-strand break (DSB) repair pathway increase risk of breast, ovarian and other cancers. In response to DNA breaks, the proteins encoded by these genes bind to each other and are transported into the nucleus to form nuclear foci and initiate homologous recombination. Flow cytometry-based functional variant analyses (FVAs) were developed to determine whether variants in BRCA1 or other DSB repair genes disrupted the binding of BRCA1 to its protein partners, the phosphorylation of p53 or the transport of the BRCA1complex to the nucleus in response to DNA damage. Each of these assays distinguished high-risk BRCA1 mutations from low-risk BRCA1 controls. Mutations in other DSB repair pathway genes produced molecular phenocopies with these assays. FVA assays may represent an adjunct to sequencing for categorizing VUS or may represent a stand-alone measure for assessing breast cancer risk.