Abstract: A frequent SNP A259G (K87E) genotype switch in the MMP8 gene in has been found to modify the clinical behavior of cancers. The modification varies based on the patient's genotype for the SNP, and whether homozygous or heterozygous. One particular genotype for this SNP leads to more aggressive tumor behavior and worst clinical outcome than the others.

Abstract: A method of detecting a predisposition to, or the incidence of, cancer in a sample comprises detecting an epigenetic change in at least one gene selected from an NDRG4/NDRG2 subfamily gene, GATA4, OSMR, GATA5, SFRP1, ADAM23, JPH3, SFRP2, APC, MGMT, TFPI2, BNIP3, FOXE1, SYNE1, S0X17, PHACTR3 and JAM3, wherein detection of the epigenetic change is indicative of a predisposition to, or the incidence of, cancer. Also described are pharmacogenetic methods for determining suitable treatment regimens for cancer and methods for treating cancer patients, based around selection of the patients according to the methods of the invention. The present invention is also concerned with improved methods of collecting, processing and analyzing samples, in particular body fluid samples. These methods may be useful in diagnosing, staging or otherwise characterizing various diseases.

Abstract: The invention provides methods for identifying early stage non-small cell lung cancer (NSCLC) patients who will have a favorable prognosis for the recurrence of lung cancer after surgical resection. The invention is based on the discovery that assessment of chromosomal copy number abnormalities at two or more of chromosome 5p15, 7p12, 8q24 and centromere 6 can be used for prognostic classification. The invention preferably uses fluorescence in situ hybridization with fluorescently labeled nucleic acid probes to hybridize to patient samples to quantify the chromosomal copy number of the these genetic loci.

Abstract: Methods are provided for determining whether a subject has a graft tolerant phenotype. In practicing the subject methods, the expression of at least one gene in a sample from the subject, e.g., a blood sample, is assayed to obtain an expression evaluation for the at least one gene. The obtained expression evaluation is then employed to determine whether the subject has a graft tolerant phenotype. Also provides are compositions, systems and kits that find use in practicing the subject methods. The methods and compositions find use in a variety of applications, including the determination of an immunosuppressive therapy regimen.

Abstract: This invention is directed to mutated Activin A type I receptor proteins (ACVR1) and isolated nucleic acids encoding same. The invention also relates to the use of mutated ACVR1 in the diagnosis and treatment of Fibrodysplasia Ossificans Progressiva (FOP).

Abstract: This invention provides a process for sequencing single-stranded DNA by employing a nanopore and modified nucleotides.

Abstract: Described herein are oligonucleotides useful for detecting, isolating, amplifying, quantitating, monitoring, screening and sequencing GBS genes and methods of using the described oligonucleotides.

Abstract: The invention relates to methods and compositions for analyzing plant acetohydroxy acid synthase large subunit (AHASL) genes. In particular, the invention relates to methods for the detection of wild-type AHASL alleles and mutant AHASL alleles that encode imidazolinone-tolerant AHASL proteins. The methods involve the use of PCR amplification and novel compositions comprising allele-specific and gene-specific primers to detect the presence of mutant and/or wild-type alleles present at the individual AHASL genes of a plant. Specifically, the methods and compositions are useful for analyzing the three AHASL genes of Triticum aestivum and the two AHASL genes of Triticum turgidum ssp. durum.

Abstract: The present invention relates to probes which detect a polymorphism(s) in exon 12 of the NPM1 gene, a kit therefor, and the method of detecting the polymorphism(s) thereof.

Abstract: The invention is related to a novel primate specific brain isoform of the potassium channel KCNH2 and genetic association with risk for schizophrenia and response to therapy.

Abstract: The disclosure relates to a method for determining incidence of liver cancer in a subject, including detecting methylation level or expression level of one microRNA miR-129-2 in a bio-sample from the subject. In the case that the methylation level of the microRNA in the bio-sample is higher or the expression level of the microRNA in the bio-sample is lower relative to that of the corresponding microRNA in a control sample, indicates that the subject is predisposed to or afflicted with liver cancer.

Abstract: Provided herein are genetic variants associated with development of a condition of interest (e.g., Alzheimer's disease). Methods of treatment with an active agent (e.g., with a particular active agent and/or at an earlier age) is also provided, upon detecting a genetic variant described herein. In some embodiments, the genetic variant is a deletion/insertion polymorphism (DIP) of the TOMM40 gene.

Abstract: The invention relates to methods of evaluating MS severity based on analysis of single nucleotide polymorphisms (SNPs) and to products and kits for use in such methods.

Abstract: Compositions and methods are provided for prognostic classification of inflammatory diseases, e.g. inflammatory demyelinating disease, patients into subtypes, which subtypes are informative of the patient's need for therapy and responsiveness to a therapy of interest. The patterns of cytokines provides for a signature pattern that can identify patients likely to benefit from therapeutic intervention as well as discriminate patients that have a high probability of responsiveness to a therapy from those that have a low probability of responsiveness. Assessment of this signature pattern thus allows improved methods of care. In one embodiment of the invention, the autoimmune disease is multiple sclerosis or neuromyelitis optica.

Abstract: The invention provides methods and oligonucleotide primers for assaying Brassica napus plants for the presence or absence of mutations that confer resistance to imidazolinone herbicides. Specifically, the methods and primers of the invention are useful for detecting the PM1 mutation of the B. napus AHAS1 gene and the PM2 mutation of the B. napus AHAS3 gene.

Abstract: The present invention discloses certain genetic variants as susceptibility variants for lung cancer. The invention relates to methods of risk assessment using such variants. The invention further relates to kits for use in risk assessment of lung cancer.

Abstract: Provided herein is a method for identifying a genetic variant that is associated with development of a condition of interest (e.g., Alzheimer's disease), and genetic variants so identified. Methods of treatment with an active agent (e.g., with a particular active agent and/or at an earlier age) is also provided, upon detecting a genetic variant described herein. In some embodiments, the genetic variant is a deletion/insertion polymorphism (DIP) of the TOMM40 gene. Kits for determining if a subject is at increased risk of developing late onset Alzheimer's disease is also provided. Kits for determining if a subject is responsive to treatment for a condition of interest with an active agent are further provided.

Abstract: The invention relates to procedures and methods of determining a susceptibility to cardiac arrhythmia, including Atrial Fibrillation, Atrial Flutter and Stroke, by assessing the presence or absence of alleles at polymorphic markers found to be associated with risk of these conditions. The invention further relates to kits encompassing reagents for assessing such markers, and diagnostic methods, uses and procedures for utilizing such susceptibility markers.

Abstract: Single nucleotide polymorphic sites of the bovine HSP genes are associated with improved fertilization rate and/or improved embryo survival rate in cattle. Nucleic acid molecules, kits, methods of genotyping and marker assisted bovine breeding methods based on these SNPs are disclosed.

Abstract: The invention relates to a method of identifying an individual nucleotide, comprising (a) contacting the nucleotide with a transmembrane protein pore so that the nucleotide interacts with the pore and (b) measuring the current passing through the pore during the interaction and thereby determining the identity of the nucleotide. The invention also relates to a method of sequencing nucleic acid sequences and kits related thereto.