Abstract: The subject invention pertains to a method for determining the sequence of a polynucleotide comprising the steps of (i) contacting a polynucleotide processive enzyme immobilised in a fixed position, with a target polynucleotide under conditions sufficient to induce enzyme activity; (ii) detecting an effect consequent on the interaction of the enzyme and polynucleotide, wherein the effect is detected by measurement of a non-linear optical signal or a linear signal coupled to a non-linear signal.

Abstract: In embodiments the expression or methylation of the TBX5 gene is used as a marker for the presence and prognosis of colon cancer. In further embodiments methods for detecting colon cancer are disclosed as are methods for inhibiting the growth of colon cancer cells.

Abstract: A method for analyzing a sequence comprising a SNP site is provide. In general terms, the method comprises: a) contacting a first DNA sample with a first restriction enzyme to provide DNA fragments, wherein: i) the first restriction enzyme cleaves the sequence only if a first allele of a SNP is present at the SNP site; b) end-labeling the DNA fragments to produce an end-labeled sample; c) hybridizing the end-labeled sample to an array comprising a probe sequence; and d) comparing the amount of hybridization between the digested sample and the probe sequence to a reference signal.

Abstract: The invention provides a method of probing for a nucleic acid comprising: contacting a nucleic acid solution with an oligonucleotide probe labelled with an electrochemically active marker, providing conditions at which the probe is able to at least partially hybridize with any complementary target sequence which may be present in the nucleic acid solution, selectively degrading either hybridized, partially hybridized or unhybridized nucleic acid probe, and electrochemically determining information relating to the electrochemically active marker. The invention further provides novel molecules with use in methods of the invention.

Abstract: The invention generally relates to nucleic acid ligands that specifically bind to infectious prions, and methods of diagnosing a transmissible spongiform encephalopathy disease in a subject. In certain embodiments, the invention provides an isolated nucleic acid ligand that binds to an infectious prion. In other embodiments, the invention provides a method for diagnosing a transmissible spongiform encephalopathy disease in a subject including obtaining a tissue or body fluid sample from a subject, contacting the tissue or body fluid with a nucleic acid ligand that binds to an infectious prion, thereby detecting the infectious prion in the sample, and diagnosing the transmissible spongiform encephalopathy disease based on results of the contacting step.

Abstract: Detection probes are provided that are capable of detecting a sequence to be detected containing a mutation even when a sequence not to be detected containing no mutation coexists with the sequence to be detected containing a mutation, which are different only in a single base from each other. At least one oligonucleotide selected from the group consisting of SEQ ID NOs: 2˜16 is used as a probe. Even in a sample containing an abl gene in which a mutation has occurred and an abl gene in which no mutation has occurred, the use of such probes in, for example, Tm analysis allows the mutation to be detected.

Abstract: A process concentrates nucleic acid molecules to be detected of a sample on a surface, with capture molecules that specifically bind the nucleic acid molecules. A support material has a capture probe that can specifically be linked to the nucleic acid molecules to be detected to give complexes. The support material and the nucleic acid molecules of the sample are incubated to form the complexes. The complexes are moved to the surface. At least one portion of the complexes becomes bound to the capture molecules via the capture probe.

Abstract: A detector oligonucleotide comprises multiple pairs of a donor fluorophore and a quencher molecule, which donor fluorophores and quencher molecules are separated by a site that is capable of being cleaved when in double-stranded form. The detector oligonucleotide may be made double-stranded in a manner that depends on the presence of a target nucleic acid, allowing the cleavage sites to be cleaved. Separation of the donor fluorophores and the quencher molecules decreases fluorescence quenching and generates a detectable change in a fluorescence parameter of the fluorophores of the detector oligonucleotide. By using multiple donor/quencher pairs, the present detector oligonucleotide advantageously generates a high signal to noise ratio and high efficiency in detection of a target nucleic acid.

Abstract: The present invention provides methods of detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, the present invention provides advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples.

Abstract: The present invention provides rapid and accurate methods, primers, probes and kits for identifying the presence of a certain flaviviruses in a sample. Flaviviruses that can be detected include members of the Japanese encephalitis virus serogroup, Dengue virus, St. Louis encephalitis virus, Montana myotis leukoencephalitis virus, Modoc virus, and Yellow Fever virus. The primers and probes of the invention can hybridize to regions in the 3? untranslated region of the viral genomes to be detected.

Abstract: The invention generally relates to nucleic acid ligands that specifically bind to infectious prions, and methods of diagnosing a transmissible spongiform encephalopathy disease in a subject. In certain embodiments, the invention provides an isolated nucleic acid ligand that binds to an infectious prion. In other embodiments, the invention provides a method for diagnosing a transmissible spongiform encephalopathy disease in a subject including obtaining a tissue or body fluid sample from a subject, contacting the tissue or body fluid with a nucleic acid ligand that binds to an infectious prion, thereby detecting the infectious prion in the sample, and diagnosing the transmissible spongiform encephalopathy disease based on results of the contacting step.

Abstract: Provided herein are methods, kits and compositions to classify fungi. Methods are provided for classification of fungi according to established phenotypes, for example, antimicrobial susceptibility profiles. More specifically, the invention provides methods for the use of PNA probes in diagnostic applications, which will aid in the direction of appropriate therapy against fungi.

Abstract: Methods and systems for allelic detection and allele-specific copy number are provided herein. The described methods use identification of single nucleotide polymorphism using restriction enzymes and CGH analysis. Microarrays comprising probes designed by the described methods are provided. Also included are methods for identifying SNP sites and copy number in samples obtained from patient populations.

Abstract: The present invention concerns the V617F variant of the protein-tyrosine kinase JAK2, said variant being responsible for Vaquez Polyglobulia. The invention also relates to a first intention diagnostic method for erythrocytosis and thrombocytosis allowing their association with myeloproliferative disorders, or to the detection of the JAK2 V617F variant in myeloproliferative disorders allowing their reclassification in a new nosological group.

Abstract: The invention relates to the use of a multiplicity of polynucleotide probe sets, the multiplicity of polynucleotide probe sets consisting in a combination of pools of polynucleotide probe sets, each polynucleotide probe set containing at least one polynucleotide probe chosen among a library of nucleic acid sequences, the polynucleotide probes involved in the combination of pools of polynucleotide probe sets of the multiplicity of polynucleotide probe sets being such that each polynucleotide probe specifically hybridizes with one gene, and/or at least one of its variants when present, for determining the variation of expression at least 12 genes, and their variants when present, in order to diagnose the benign or malignant state of a breast tumor.

Abstract: The present invention relates to novel genetic markers associated with response of a patient with esophageal cancer (ECa) to chemoradiation therapy, and particularly to methods and kits for predicting an ECa patient's response to chemoradiation therapy by genotyping of the markers.

Abstract: Methods and compositions for determining the suitability of a lung for transplantation are described.

Abstract: Provided are polynucleotides of molecular variant promoters of the CYP2D6 gene which, for example, are associated with abnormal drug response or individual predisposition to several common diseases and disorders caused by drug under- or over-metabolization, and vectors comprising such polynucleotides. Furthermore, methods of diagnosing the status of disorders related to intermediate metabolization of drugs are described. In addition, kits comprising oligonucleotides hybridizing to the CYP2D6 promoter and/or being capable of being extended into this region useful for diagnosing subjects that are ultrarapid or intermediate metabolizer of drugs are provided.

Abstract: This document provides methods and materials related to genetic markers of Bipolar Disorder (BD) and Schizophrenia (SZ). For example, methods for using such genetic markers to assess risk of developing BD and/or SZ are provided, as are methods for making a differential diagnosis between BD and SZ.

Abstract: The present invention relates to methods for amplifying various regions of the cystic fibrosis transmembrane regulator (CFTR) gene. Methods are provided for amplifying one or all 27 exons of the CFTR gene and a portion of the CFTR promoter region in a single tube. The method can identify the presence or absence of CF deletions or insertions in a sample and assist in the diagnosis of a genetic predisposition to cystic fibrosis.