Abstract: The invention relates to a kit for preparing a library of template polynucleotides suitable for use as templates in solid-phase nucleic acid amplification and sequencing reactions to determine the methylation status of the cytosine bases in the library. In particular, the invention relates to a kit for preparing a library of template polynucleotides suitable for methylation analysis.

Abstract: The invention features reagents, methods and kits for the purification of RNA, or DNA, or both, from a sample.

Abstract: Provided herein is technology relating to predicting a subject's resistance or responsiveness to a decitabine based therapy and particularly, but not exclusively, to methods, compositions, and related uses for predicting a subject's resistance or responsiveness to a decitabine based therapy wherein the subject is diagnosed with chronic myelomonocytic leukemia.

Abstract: Provided herein is technology for prostate cancer screening and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of prostate cancer.

Abstract: The present invention relates to compositions and methods for detecting CDK4/6 response and resistance.

Abstract: Described herein is the use of Agouti Signaling Protein (ASIP), in addition to certain other melanocortin signaling network (MSN) genes, as prognostic and predictive biomarkers for the progression of breast cancer. In particular, the novel biomarkers can be used to determine if a female breast cancer patient is at risk of progressing to metastatic disease and thus also be used to direct treatment of the patient.

Abstract: The present disclosure relates to methods for determining recombination diversity at a genomic locus of interest. The method includes fragmenting nucleic acids isolated from immune cells, ligating adaptors to the fragmented or amplified nucleic acids, and selectively amplifying nucleic acids containing a recombined junction at the genomic locus of interest. Selective amplification is achieved by using a first primer that hybridizes to an adaptor sequence and a second primer that hybridizes at a constant region downstream of the recombined junction. The selectively amplified nucleic acids may be sequences and analyzed to determine recombination diversity at the genomic locus.

Abstract: The present invention relates to methods and kits for the specific detection of Escherichia coli (E. coli) serotypes O157:H7 and/or O145:H28. The methods and kits are based on the detection of newly identified sequence regions, which have a very high sequence identity between E. coli serotypes O157:H7 and O145:H28 and which are not present in any other known E. coli serotype or bacteria. This sequence region thus allows for selective detection of E. coli O157:1-17 and/or O145:H28 from other bacteria, especially other E. coli serotypes. Furthermore the present invention shows that a 3 bp InDel sequence in O157:H7 allows for distinguishing between O157:H7 and O145:H28, which allows for selective detection of O157:H7 over O145:H28 and vice versa. Furthermore, the invention provides oligonucleotides useful for said detection.

Abstract: The present disclosure provides the quantification of double-strand breaks in DNA molecules using terminal deoxynucleotidyl transferase using a preliminary step of nick gap and repair. This preliminary step comprising contacting the DNA molecules with both a DNA ligase and a DNA polymerase to repair DNA nicks and remove DNA gaps prior to using the terminal deoxynucleotidyl transferase.

Abstract: The present invention relates to a method for rapidly detecting copies of at least one RNA molecule expressed in individual cells and uses thereof.

Abstract: Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.

Abstract: The present invention is concerned with prenatal screening and in particular non-invasive prenatal screening, as well as primers, primer sets and kits. In one instance, the invention provides a method of prenatal screening comprising: (a) amplifying a region encompassing the site of a mutation site responsible for the disorder, the amplification being performed on a DNA sample obtained from a pregnant female which comprises both maternal and fetal DNA; (b) sequencing a plurality of products from the amplification and determining whether or not the mutant allele is represented at a different frequency to that expected from the genotype of the pregnant female alone.

Abstract: Described are methods of detecting modified nucleotide bases in a DNA sample using specific DNA glycosylases to excise target modified bases. DNA molecules are then labeled using a DNA polymerase lacking 3??5? exo-nuclease activity and strand displacement activity. The methods can be used to detect epigenetic changes and DNA damage. Provided are methods for diagnosing a disease or condition, determining risk of a disease or condition, identifying appropriate treatment, monitoring effectiveness of treatment, and monitoring side effects of treatment in subjects based on detection of modified bases. Also provided are methods for determining environmental exposure, or an environmental exposure time, of a biological sample containing DNA. Also provided are kits, systems, and devices for performing the described methods.

Abstract: The present invention features methods, devices, and kits for detecting a level of one or more biomarkers in a patient with cancer or determining the responsiveness of a patient with cancer to a treatment, such as treatment with an anthracycline. The invention further includes methods of treating a patient with cancer by administering, e.g., the anthracycline.

Abstract: The present invention relates to compositions and methods and for the diagnosis, prognosis, and treatment of prostate cancer. The invention is based upon the identification of a gene expression signature that predicts the likelihood that prostate cancer will metastasize. Provided is a method of determining whether prostate cancer in a subject will metastasize. Also provided are compositions comprising a prostate cancer-associated gene. Also provided are kits comprising a package with a prostate cancer-associated gene.

Abstract: The present invention includes methods of determining whether an individual in need thereof has, or is at risk of developing, facioscapulohumeral muscular dystrophy (FSHD).

Abstract: The present invention discloses methods, kits, and apparatus as well as reagents and compositions associated therewith for deriving an indicator for use in diagnosing the presence, absence or degree of at least one condition in a biological subject or in prognosing at least one condition in a biological subject. Also disclosed is a biomarker signature for use in diagnosing the presence, absence or degree of at least one condition in a biological subject or in prognosing at least one condition in a biological subject. The present invention further discloses methods, kits and apparatus, as well as reagents and compositions associated therewith, for identifying biomarkers for use in a biomarker signature.

Abstract: The present invention relates to a vasopressin receptor 1B (V1B) antagonist for use in the treatment of depressive symptoms and/or anxiety symptoms in patients showing an elevated arginine vasopressin (AVP) level and/or an elevated copeptin level. The present invention further relates to a method for predicting the treatment response to a V1B antagonist in patients with depressive symptoms and/or anxiety symptoms.

Abstract: The present invention relates to novel methods for the prevention, treatment and diagnosis of Alzheimer's disease. In addition, the invention relates to methods for assessing an individual's susceptibility or pre-disposition to Alzheimer's disease. The methods of the present invention involve the use of therapeutic targets and diagnostic and/or predictive markers within the mTOR signalling pathway. The methods also involve screening subjects for genetic polymorphisms associated with rapamycin-sensitive genes.

Abstract: The present invention relates to a biomarker composition for diagnosing anticancer drug resistance of gastric cancer, including an FGFR2-ACSL5 fusion gene or a protein that the fusion gene encodes, a composition and a kit for diagnosing anticancer drug resistance of gastric cancer, including a preparation which detects an mRNA or protein of the fusion gene, and a method for diagnosing anticancer drug resistance of gastric cancer by using the biomarker. It is possible to diagnose in advance whether resistance to the drug will be exhibited during the treatment with the FGFR inhibitor by detecting an mRNA of the FGFR2-ACSL5 fusion gene according to the present invention or a protein which the gene encodes in a tissue derived from the patient with gastric cancer, so that the treatment efficiency can be enhanced by applying a more appropriate treatment to the patient.