Abstract: A sample analysis device (9) comprises a sample receiving well (7) configured to receive a liquid sample (4) comprising rolling circle amplification products (RCPs) (5). The device (9) also comprises a filter membrane (1) permeable for liquid of the liquid sample (4) but substantially impermeable for RCPs (5) in the liquid sample (4). The sample receiving well (7) is defined in the filter membrane (1) or is in connection with the filter membrane (1). An absorption layer (3) is in liquid connection with the filter membrane (1) and is configured to suck liquid from the liquid sample (4) received in the sample receiving well (7) through the filter membrane (1) by capillary force. The dimensions of the sample receiving well (7) are restricted to a field of view of an optical sensing device (10).

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 disclosure relates to methods for detecting and treating bladder cancer in a subject using the gene expression level measurements from exosomes derived from the subject.

Abstract: Methods for the determination of the risk of developing neoplasia in a tissue, preferably anogenital tissue, showing no histopathological indications of neoplasia are described. The method is based on the determination of the methylation status of genomic DNA sequences associated with the genes ZNF671, ZNF154, ZNF776, ASTN1, BRINP2, DLX1, METAP1D and/or DLX2.

Abstract: This technology relates to a method of treating breast cancer in a subject and a method of determining whether a breast lesion in a subject is malignant or benign using miRNA panels.

Abstract: Provided herein is a method for detecting a tumour that can be applied to cell-free samples, e.g., to cell-free detect circulating tumour DNA. The method utilizes detection of adjacent methylation signals within a single sequencing read as the basic positive tumour signal, thereby decreasing false positives. The method comprises extracting DNA from a cell-free sample obtained from a subject, bisulphite converting the DNA, amplifying regions methylated in cancer (e.g., CpG islands, CpG shores, and/or CpG shelves), generating sequencing reads, and detecting tumour signals. To increase sensitivity, biased primers designed based on bisulphite converted methylated sequences can be used. Target methylated regions can be selected from a pre-validated set according to the specific aim of the test. Absolute number, proportion, and/or distribution of tumour signals may be used for tumour detection or classification. The method is also useful in, e.g.

Abstract: Disclosed is a diagnostic panel of methylated genomic loci encoding microRNA (mgmiR) markers that demonstrated 90% sensitivity and 100% specificity in the detection of head and neck squamous cell carcinoma (HNSCC). These results represent the first use of quantitative MS-PCR for the detection of mgmiRs. In addition, this panel demonstrates the ability to detect hypermethylation in the adjacent mucosa of cancer patients, suggesting its utility in early detection. This panel is also capable of detecting cancer by using saliva, blood and FNA tissue samples.

Abstract: The present disclosure provides methods and systems for personalized genetic testing of disease in a subject, in particular for identifying and tracking genetic mutations identified in an individual subject to monitor for cancer or for the spread or recurrence of the disease. In some embodiments, custom assays, including custom panels designed to target sequence data corresponding to both subject-specific loci and other loci known for cancer-causing or therapy resistance mutations, are designed based upon the sequencing of a screening biopsy sample. Such custom assays are then run on subsequently obtained tissue samples, such as tissue obtained from a surgical resection of a primary or metastatic tumor or from a lymph node biopsy. The subsequently obtained tissue samples can be taken from the subject at various time points after an initial screening biopsy to further allow for extended monitoring of the subject for spread or recurrence of the disease.

Abstract: Described herein are improved methods, compositions, and kits for analysis of minimal residual solid tumor.

Abstract: The present invention discloses a set of novel epigenetic biomarkers for early prediction, treatment response, recurrence and prognosis monitoring of pancreatic cancer. Aberrant methylation of genes can be detected in tumor tissues and plasma samples from pancreatic cancer patients but not in normal healthy individual. The present disclosure also discloses primers and probes used herein.

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: A method of detecting the presence of a prostate cancer field defect in a human subject comprising the step of (a) obtaining genomic DNA from the human subject and (b) quantitating methylation in at least one target region selected from the group consisting of CAV1, EVX1, MCF2L, FGF1, NCR2 and WNT2 and EXT1 and SPAG4 target, wherein significant methylation changes indicate the presence of prostate cancer or a prostate cancer field defect, wherein the change is relative to tissue from a second human subject who does not have prostate cancer.

Abstract: Described herein are methods and systems for identifying and/or treating subjects having cancer who are more likely to respond to treatment with an inhibitor of the transcription factor HIF-2?.

Abstract: Methods and compositions are provided for diagnosing lung cancer in a mammalian subject by use of 7 or more selected genes, e.g., a gene expression profile, from the blood of the subject which is characteristic of disease. The gene expression profile includes 7 or more genes of Table I, Table II, Table III, Table IV or Table IX herein.

Abstract: Compositions and methods for detecting Trichomonas vaginalis are provided.

Abstract: The present invention discloses a set of novel epigenetic biomarkers for early prediction, treatment response, recurrence and prognosis monitoring of a breast cancer. Aberrant methylation of the genes can be detected in tumor tissues and plasma samples from breast cancer patients but not in normal healthy individual. The present disclosure also discloses primers and probes used herein.

Abstract: Provided herein are methods and materials for detecting and/or treating subject (e.g. a human) having cancer. In some embodiments, methods and materials for identifying a subject as having cancer (e.g., a localized cancer) are provided in which the presence of member(s) of two or more classes of biomarkers are detected. In some embodiments, methods and materials for identifying a subject as having cancer (e.g. a localized cancer) are provided in which the presence of member(s) of at least one class of biomarkers and the presence of aneuploidy are detected. In some embodiments, methods described herein provide increased sensitivity and/or specificity in the detection of cancer in a subject (e.g. a human).

Abstract: The present invention discloses a method of detecting the presence of mutated genes, mRNAs or microRNAs in a subject. The method comprises the following steps: (1) Provide a body fluid sample containing cells, circulating tumor cells (CTCs), and/or extracellular vesicles (EVs); and use an analyzer having overhang molecular beacons to measure fluorescence signals generated by interactions between the body fluid sample and the overhang molecular beacons, so as to detect the presence of the mutated genes, mRNAs or microRNA. Furthermore, a biochip comprising a gold coating substrate and tethered lipoplex nanoparticles encapsulating the overhang molecular beacons is also provided in the invention.

Abstract: Provided herein are products and processes for primer extension reactions using chain terminating reagents and enzymes having 3? to 5? exonuclease activity, whereby unextended oligonucleotides are digested and extended oligonucleotides are not digested. Also provided herein are products and processes for the detection of the presence, absence or amount of one or more variants of a target nucleic acid species or a plurality of target nucleic acid species comprising primer extension reactions using chain terminating reagents and enzymes having 3? to 5? exonuclease activity, whereby unextended oligonucleotides are digested and extended oligonucleotides are not digested.

Abstract: The present disclosure provides methods of treating subjects having skin cancer or at risk of developing skin cancer, and methods of identifying subjects having an increased risk of developing skin cancer.