Abstract: The present invention provides, inter alia, kits for selecting a chemotherapy regimen for a subject. The kits comprise one or more components for detecting the expression of at least one gene from the group of SLC12A7, GZMB, TAF6L, NFIB, METRN, ROPN1B, TTK, CCND1, PTTG1, H2AFZ, WDR45L, DEK, MCM2, USP1, CDT1, TMEM97, RER1, MCM6, LZTFL1, C11orf17, CCL5, XCL1, XCL2, MELK, CTSL2, TPX2, AURKA, CDKN2C, BRP44, PNP, SMC4, NR4A2, C3orf37, MTPAP, CDC25B, ABCF1, MTAP, SNAPC3, RANBP9, COIL, FAM86B1, ITGA6, S100P, RANBP1, PRSS16, SMARCA2, STK24, TSPYL5, SRI, LRP12, CENPF, TUBD1, KIAA1324, DBF4, CCNA2, DLGAP5, FHL1, SIRT3, GTSE1, PCNA, CCNE2, CHD3, CAP1, GPM6B, GUSBP3, GNAI3, LMO4, PSRC1, USP1, STK38, BAT2L1, PMP22, NME5, CENPA, BANK1, and derivatives thereof. Methods for selecting a chemotherapy regimen for a subject are also provided.

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: Disclosed herein are method, materials and kits for detection of B. Burgdorferi infection or determining stage of Lyme disease in a subject. Exemplified is a method of diagnosing an infection in a subject, the method involving exposing a biological sample from the subject to a capture substrate under conditions for an infection marker in said biological sample to associate with the capture substrate to form a capture complex; associating said capture complex with a marker complex, said marker complex comprising an oligonucleotide; and amplifying said oligonucleotide of marker complex associated with said capture complex to produce an amplification signal; wherein an amplification signal above a predetermined signal threshold indicates that said subject is infected.

Abstract: Provided herein, among other things, is a method of processing a nucleic acid sample. In some embodiments, the method comprises a) hybridizing a sample comprising a target fragment to a nucleic acid probe comprising: i. a head sequence and a tail sequence, wherein the head and tail sequences are at the ends of a first oligonucleotide molecule; and ii.

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.

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 disclosure provides methods for automated characterization of circulating tumor cells (CTCs), for example using automated tissue strainers. In specific examples, such methods permit characterizing a prostate cancer sample by simultaneously or contemporaneously detecting ERG rearrangements and PTEN deletions in the same CTC. Also provided are kits that can be used with such methods.

Abstract: Methods of identifying, diagnosing, and prognosing lupus, including certain subphenotypes of lupus, are provided, as well as methods of treating lupus, including certain subpopulations of patients. The methods provided are based on a set of alleles associated with systemic lupus erythematosus (SLE) risk loci including BLK, TNIP1, PRDM1, JAZF1, UHRF1BP1, IL10, IFIH1, CFB, CEC16A, IL12B and SH2B3 that contribute to SLE risk. Also provided are methods for identifying effective lupus therapeutic agents and predicting responsiveness to lupus therapeutic agents.

Abstract: The disclosure relates to a specific yeast allele of KIN3 that is involved in maximal alcohol accumulation and/or in tolerance to high alcohol levels. Preferably, the alcohol is ethanol. In a preferred embodiment, this specific allele is combined with specific alleles of ADE1 and/or VPS70. More specifically, the disclosure relates to the use of these alleles for the construction and/or selection of high alcohol tolerant yeasts, by stacking of positive alleles, or the selection and construction of low alcohol producing yeasts by stacking of negative alleles.

Abstract: The present invention provides nucleic acid sequences that are used for identification, classification and diagnosis of specific types of cancers. The nucleic acid sequences can also be used for prognosis evaluation of a subject based on the expression pattern of a biological sample.

Abstract: Described herein is the finding that patients with Sjögren's syndrome exhibit a statistically significant increase in expression of BMP6 in the salivary gland, relative to healthy control subjects. Also described herein is the finding that overexpression of BMP6 in the salivary glands of mice results in an increase in electrical potential across the salivary gland. Thus, provided herein are methods of diagnosing a subject as having Sjögren's syndrome, or at risk for developing Sjögren's syndrome, by measuring the level of BMP6 expression in a salivary gland of a subject, measuring electrical potential in a salivary gland of a subject, or both. Also provided herein are methods of treating a subject with Sjögren's syndrome by administering an agent that inhibits expression of BMP6 expression or activity. Also described herein is the use of XIST and MECP2 as diagnostic and therapeutic targets for male Sjögren's syndrome patients.

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.