Abstract: The present invention provides methods for identifying the susceptibility of a cancer cell or population of cells to treatment with Epidermal Growth Factor (EGF) Tyrosine Kinase Inhibitors (TKIs), such as erlotinib. Methods for the in vitro diagnosis of the susceptibility of a tumor in a subject to treatment with TKIs and monitoring tumor susceptibility during treatment are also provided.

Abstract: A method for a determining of risk for development of cardiovascular disease by measuring levels of the at least gene of interest is disclosed. The method may identify subjects with moderate albuminuria and diagnosis or predict cardiovascular disease several years before either of these outcomes is detectable by present methodologies.

Abstract: The invention provides methods and compositions for rapid, sensitive, and highly specific nucleic acid-based (e.g., DNA based) detection of a BK virus in a sample. In general, the methods involve detecting a target nucleic acid having a target sequence of a conserved region of BK viral genomes. The invention also features compositions, including primers, probes, and kits, for use in the methods of the invention.

Abstract: The invention provides an assay useful in predicting risk of 5-fluorouracil (FU) toxicity in a subject. The subject may be screened for the presence of at least one TYMS polymorphism and/or at least one DPYD polymorphism. Suitable TYMS and DPYD polymorphisms are provided. The presence of one or more of the polymorphisms indicates an increased risk of developing FU toxicity; a negative result may indicate a decreased risk of developing FU toxicity.

Abstract: The present invention relates to methods and compositions for diagnosing prostate cancer and/or determining whether a prostate cancer patient is at increased risk of suffering a relapse, or a rapid relapse, of his cancer. It is based, at least in part, on the results of a comprehensive genome analysis on 241 prostate cancer samples (104 prostate cancer, 85 matched bloods, 49 matched benign prostate tissues adjacent to cancer, and 3 cell lines) which indicate that (i) genome copy number variation (CNV) occurred in both cancer and non-cancer tissues, and (ii) CNV predicts prostate cancer progression.

Abstract: The present invention provides a method of aiding the differential diagnosis of haemorrhagic stroke, ischemic stroke and a transient ischemic attack in a patient who has suffered or is suffering a stroke. The method comprises: (i) determining the concentration of the biomarkers VCAM-1, GFAP and CRP in an ex vivo sample obtained from the patient; and (ii) establishing the statistical significance of the concentration of the biomarkers. Optionally, the method further comprises steps of (iii) determining the concentration of the biomarkers IL-6 and sTNFR1 in an ex vivo sample obtained from the patient; (iv) determining the gender of the patient; and (v) establishing the statistical significance of the concentration of the five biomarkers, in conjunction with the patient's gender. The present invention also provides substrates comprising probes for VCAM-1, GFAP and CRP for use in a method for aiding the differential diagnosis of stroke.

Abstract: The present invention is directed to methods of prognosing relapsed leukemia in a subject. These methods are based on the detection of one or more relapse-specific gene mutations in a patient sample. The present invention further relates to methods of preventing and treating relapse leukemia in a subject based on the determined prognosis of the subject.

Abstract: A splice variant of bcr-abl mRNA that produces BCR-ABL protein with a truncated C-terminus and its role in resistance to treatment with kinase inhibitors is disclosed. Vectors for expressing the truncated gene product are provided as well as recombinant cells that express the truncated gene product from a cDNA construct. Also provided are methods compositions and kits for detecting the BCR-ABL splice variant. Additionally, methods for screening BCR-ABL kinase domain inhibitors which rely on the recombinant cells and methods of predicting likelihood for resistance of a CML patient with a BCR/ABL translocation respond to treatment with one or more BCR-ABL kinase inhibitors are also disclosed.

Abstract: Provided herein is a method of sequencing hydroxymethyated cell-free DNA. In some embodiments, the method comprises adding an affinity tag to only hydroxymethyated DNA molecules in a sample of cfDNA, enriching for the DNA molecules that are tagged with the affinity tag; and sequencing the enriched DNA molecules.

Abstract: The present disclosure provides genomic arrangements of the chromosome 3q13 region that are associated with prostate cancer, such as rearrangements between the ZBTB20 and LSAMP genes, including gene fusions between the ZBTB20 gene and the LSAMP gene and deletions spanning both genes. The ZBTB20/LSAMP genomic rearrangement serves as a biomarker for prostate cancer and can be used to stratify prostate cancer based on ethnicity or the severity or aggressiveness of prostate cancer and/or identify a patient for prostate cancer treatment. Another aspect involves discovering that deletions of the PTEN gene are observed predominately in prostate cancer from subjects of Caucasian descent. Also provided are kits for diagnosing and prognosing prostate cancer.

Abstract: A method for assessing the predisposition of a subject to weight loss attainable by applying one or more dietary interventions to a subject and/or the predisposition of a subject to maintenance of weight loss following one or more dietary interventions which method comprises determining the nucleotide of the subject at one or more polymorphic positions selected from: (i) position 101 of SEQ ID NO:1 (rs953211) (ii) position 101 of SEQ ID NO:2 (rs1509290) (iii) position 101 of SEQ ID NO:3 (rs1509289) and/or detecting one or more biomarkers genetically linked to said polymorphic positions.

Abstract: The invention relates to a method and means for diagnosing tumors, in particular for an early diagnosis (prevention) and for differentiating between benign and malignant tumors using a PCR, in particular in bodily fluids. The method according to the invention is characterized by a combination of a pre-amplification process using a PCR, wherein methylated DNA sequences are amplified more strongly than non-methylated DNA sequences, and a subsequent quantification process using a special digital PCR, in which significantly more DNA is used than normally in the prior art. As comparison data indicates, the invention advantageously allows a clear reliable conclusion as to whether a malignant tumor disease is present or not. The invention is suitable for screening (prevention), monitoring the progress of a tumor disease, in particular to order to exclude a minimal residual disease (MRD), and for a differential diagnosis between malignant carcinoma and benign tumors.

Abstract: Provided herein are a kit and method for detecting mutations in CTNNB1 and hTERT, and their use in detection and management of hepatocellular carcinoma (HCC). The kit comprises a first pair of primers, configured to specifically bind sequences flanking the genomic region for amplifying the genomic region in a first PCR reaction; and at least one clamp, each configured to bind to one first allele but not any second allele at an annealing temperature in the first PCR reaction to thereby selectively suppress amplification of the one first allele but still allow amplification of other second allele(s). Kits and methods for detecting mutations in CTNNB1 and hTERT are also provided. A method for detecting or monitoring recurrence of HCC is further disclosed, which comprises determining levels of five DNA markers, including CTNNB1 mutations, hTERT mutations, TP53 mutations, RASSF1A methylation, and GSTP1 methylation.

Abstract: It provides a method for predicting the risk of an adverse pregnancy or neonatal outcome for a pregnant subject by detecting the elevated level of bacteria from one or more selected bacterial taxa (e.g., genera or species). A kit useful for such a method is also provided. In addition, it provides a method for determining the risk of having advanced cervical dilation and/or premature cervical shortening based on differentially abundant bacterial taxa.

Abstract: The invention relates to the identification of microRNAs associated with acne and to the use thereof.

Abstract: A method of monitoring a patient includes obtaining a first image of an object, obtaining a second image of the object, determining a level of similarity between the first and second images, obtaining a third image of the object, determining a level of similarity between the first and third images, analyzing a time series of values that includes the determined level of similarity between the first and second images and the determined level of similarity between the first and third images, and determining a state of the patient based at least on a result of the act of analyzing.

Abstract: The invention relates to CRISPR sequences found in bifidobacteria and their uses.

Abstract: The present invention is related to a method for obtaining dental pulp and root cement in the forensic dentistry field, wherein the method comprises the steps of: (a) obtaining a tooth; (b) taking a digital radiography to the tooth; (c) external rehydrating of the tooth; (d) perforating the rehydrated tooth; (e) internal rehydrating of dentin pulp complex (f) obtaining rehydrated root cement; (g) obtaining rehydrated dental pulp content with a low speed rotation tool; and (h) storing, preservation, processing and/or analyses of the rehydrated dental pulp content and rehydrated root cement, and the use of this method and kits thereof for forensic identification, estimation of post mortem interval (early and late) and determination of possible causes of death.

Abstract: Disclosed is a diagnostic panel of methylated genomic loci encoding microRNA (mgmiR) markers that demonstrated 90% sensitivity and 100% specificity in the detection of head and neck squamous cell carcinoma (HNSCC). These results represent the first use of quantitative MS-PCR for the detection of mgmiRs. In addition this panel demonstrates the ability to detect hypermethylation in the adjacent mucosa of cancer patients, suggesting its utility in early detection. This panel is also capable of detecting cancer by using saliva, blood and FNA tissue samples.

Abstract: Compositions and methods relating to potentially pathogenic mutations in the nucleotide sequence of a human NAGLU gene. Some NAGLU gene variants have been discovered to be associated with reduced N-acetyl-?-D-glucosaminidase (NAGLU) activity.