Abstract: The present invention provides compositions and methods based on genetic polymorphisms that are associated with vascular diseases such as stroke. In particular, the present invention relates to genetic polymorphisms that have utility for such uses as predicting disease risk or predicting an individual's response to a treatment such as statins, including groups of polymorphisms that may be used as a signature marker set for such uses, as well as nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

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: This application provides a kit or a device for detection of lung cancer, comprising a nucleic acid(s) for detecting a miRNA(s) in a sample from a subject, and a method for detecting lung cancer, comprising measuring the miRNA(s) in vitro.

Abstract: Provided are a set of primer pair and probe, having the oligonucleotide sequences as shown in SEQ ID NO: 1, SEQ ID NO: 2 and SEQ ID NO: 3, and a set of primer pair and probe of reference sequence, having the oligonucleotide sequences as shown in SEQ ID NO: 4, SEQ ID NO: 5 and SEQ ID NO: 6. Further provided is the use of the set of primer pair and probe for detecting the common deleted region “chr9:21970277-21985225,hg19”, of CDKN2A in the preparation of a kit for quantitatively detecting the deletion of a human CDKN2A gene copy in a DNA sample to be tested. The new method and the specific primer pair and probe can simply, conveniently and specifically detect the deletion of the CDKN2A gene copy in the sample, and have higher sensitivity than conventional detection methods for copy deletion.

Abstract: A method of detecting the presence of Neisseria gonorrhoeae in a sample. The method involves detecting a first target sequence taken from the NGO1642 gene and/or a second target sequence taken from the NGO1012 gene. The method may involve a step of amplifying the target sequence, and may involve hybridising the target sequence to a nucleic acid probe and identifying hybridisation. The method may involve simultaneous detection of other target sequences, e.g. from other pathogens.

Abstract: The invention provides compositions and methods for simultaneously determining the presence or absence of fetal aneuploidy and the relative amount of fetal nucleic acids in a sample obtained from a pregnant female. The method encompasses the use of sequencing technologies and exploits the occurrence of polymorphisms to provide a streamlined noninvasive process applicable to the practice of prenatal diagnostics.

Abstract: In an aspect, the present disclosure provides a method for determining a methylation status comprises: providing a biological sample of nucleic acid molecules; partitioning at least a subset of the nucleic acid molecules in the biological sample based on the methylation status of the nucleic acid molecules into a plurality of partitioned sets; digesting at least a subset of the one or more partitioned sets in the plurality of partitioned sets with at least one methylation sensitive restriction enzyme; enriching at least a subset of the nucleic acid molecules in the plurality of partitioned sets for genomic regions of interest, wherein the at least a subset of the nucleic acid molecules comprises digested nucleic acid molecules in the one or more partitioned sets; and determining methylation status at one or more genetic loci of the nucleic acid molecules in at least one of the partitioned sets.

Abstract: In an aspect, a method for detecting the presence or absence of cancer in a subject comprises: (a) obtaining samples from the subject from different time points, wherein a first sample obtained at first time point is a polynucleotide sample from a tumor tissue specimen and a second sample obtained at second time point is a cell-free polynucleotide sample from a blood sample; (b) processing polynucleotides from each of the samples, comprising: i) tagging at least a portion of the polynucleotides, thereby generating tagged parent polynucleotides; ii) amplifying at least a portion of the tagged parent polynucleotides to generate progeny polynucleotides; iii) enriching at least a portion of the progeny polynucleotides for target genomic regions; thereby generating enriched polynucleotides; and iv) sequencing at least a portion of the enriched polynucleotides to generate sequencing reads; and (c) analyzing genomic regions for at least one epigenetic feature from the sequencing reads.

Abstract: Methods and assays for diagnosis or prognosis of endometriosis include comparing an expression level or activity of miR-155 and JARID2 in a sample to detect a measurable difference. Therapeutic methods for treating endometriosis in a subject comprise identifying a subject as having a decreased expression level and/or activity of JARID2 in a sample obtained from the subject; and administering an agent that inhibits an activity of an miRNA that targets JARID2 or an agent that inhibits EZH2. Methods for screening for a compound useful for treating endometriosis are also provided and include contacting a cell with an effective amount of a test compound, and detecting whether the expression level or activity level of JARID2 or miR-155 in the cell is altered in the presence of the test compound.

Abstract: This invention provides a kit or device for detection of prostate cancer and a method for detecting prostate cancer. This invention provides a kit or device for detection of prostate cancer comprising a nucleic acid capable of specifically binding to an miRNA in a sample from a subject or a complementary strand thereof and a method for detecting prostate cancer comprising measuring the miRNA in vitro.

Abstract: Disclosed are compositions, methods and apparatus for diagnosing and/or monitoring a virus-associated systemic inflammation by measurement of a host immune response. The invention can be used for diagnosis including early diagnosis, monitoring, making treatment decisions, or management of subjects suspected of having systemic inflammation associated with an infection. More particularly, the present disclosure relates to peripheral blood RNA and protein biomarkers that are useful for specifically distinguishing between the host systemic immune response to viruses as compared to the host immune response to other causes of systemic inflammation.

Abstract: Methods and kits are described for testing for the presence or absence of any fungus in a sample. Examples of fungi that can be detected include, but are not limited to, those belonging to the genera Candida, Aspergillus and Pneumocystis. The methods include obtaining a sample suspected of containing fungal nucleic acid, including at least one universal region of fungal nucleic acid, and testing for the presence or absence in the sample of the at least one universal region of fungal nucleic acid. Samples may be biological or non-biological.

Abstract: The present invention relates to the technical field of biology. Disclosed are a tumor marker, a methylation detection reagent, a kit and application thereof. Disclosed in the present invention is that: a colorectal cancer specimen can be distinguished from a fecal specimen of a normal person by detection a methylation level of COL4A1 gene promoter region. The present invention relates to detecting colorectal cancer by using the methylation detection reagent of the gene.

Abstract: The invention discloses a composition and kit for early detection of high-grade cervical lesions and cervical cancer, wherein the composition for early detection of high-grade cervical lesions and cervical cancer includes methylation primers, a probe corresponding to methylated sites and methylation blocking primers for FAM19A4 gene; methylation primers, a probe corresponding to methylated sites and methylation blocking primers for JAM3 gene; methylation primers, a probe corresponding to methylated sites and methylation blocking primers for PAX1 gene; and 1 pair of primers and a probe corresponding to methylated sites for internal reference gene GAPDH.

Abstract: The present invention discloses a combination of DNA methylation markers and the use thereof, primers, probes and a kit for early detection of ovarian cancer, wherein the combination of DNA methylation markers comprises at least one methylated fragment of each of four genes, including PCDHB18P, CDO1, HOXA9 and LYPD5. The detection primers and kit obtained for the methylated regions of the target genes can significantly improve the sensitivity of ovarian cancer detection, and meanwhile maintain a high specificity for normal ovarian cells and benign ovarian tumors. The detection primers and probes detect patients with possible gynecological malignant tumors early through molecular epigenetic methods using methylation detection technology, and the result is very accurate, and can provide clinicians with auxiliary diagnostic reference for early prophylactic treatment.

Abstract: Mycobacterial-specific biomarkers and methods of using such biomarkers for diagnosis of mycobacterial infection in a mammal are disclosed.

Abstract: The present disclosure relates to a DNA methylation markers combination for bladder cancer risk stratification, which includes methylation regions as denoted by any one or more of SEQ ID NOS:1-22 or any one or more of complementary sequences thereof. The present disclosure further provides a clinical application of the three-class stratification mode before operation based on the selected appropriate molecular marker combinations, to promote the rational use of current diagnosis and treatment methods, consequently patients with negative BC can avoid excessive invasive cystoscopy, while HR-NMIBC or MIBC can expedite diagnosis and surgical operations, and the definite LMR-NMIBC patients can follow standard diagnostic modalities.

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

Abstract: The present invention relates to a method for predicting the prognosis of a breast cancer patient. More specifically, to provide information needed to predict the prognosis of a breast cancer patient, the method for predicting the prognosis of breast cancer including the following steps of the present invention comprises: (a) obtaining a biological sample from a breast cancer patient; (b) measuring the mRNA expression level of matrix metallopeptidase 11 (MMP11) and the mRNA expression level of cluster of differentiation 2 (CD2) from patient information or the sample of step (a); (c) normalizing the gene mRNA expression levels selected and measured in step (b); and (d) predicting the prognosis of breast cancer by combining the gene expression levels normalized in step (c), wherein overexpression of the MMP11 indicates a bad prognosis, and overexpression of CD2 indicates a good prognosis.

Abstract: A process for analysing chromosome regions and interactions relating to immunoresponsiveness.