Abstract: The invention relates to, among others, a method for assessing a prognosis of a patient with a malignant disease and/or for predicting the response of a patient with a malignant disease to immunotherapy. For this purpose, a DNA methylation analysis is carried out on at least one immunoregulatory gene of cells of the malignant disease and/or T lymphocytes which interact with the cells of the malignant disease, said gene coding for an immune checkpoint selected from B7 proteins and the receptors thereof, MHC-peptide complex-binding co-receptors, the members of the tumor necrosis factor receptor superfamily TNFRSF9, CD40, TNFRSF4, TNFRSF18, and CD27, the members of the immunoglobulin superfamily TIGIT, BTLA, HAVCR2, BTNL2 and CD48, and the andenosine-binding adenosine 2A receptor.

Abstract: Provided herein are methods of characterizing tumors or a region of interest in a biological sample.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: The present invention relates to a method of creating a biomarker profile, the method comprising the steps of: obtaining a sample of biofluid from a subject, wherein the sample is stored on a sample collection apparatus; removing the sample from the sample collection apparatus; extracting nucleic acids from the sample; sequencing the extracted nucleic acids to generate sequence data; and analyzing the sequence data using a two-step analytical methodology to create the biomarker profile. The present invention is also directed to methods of determining the sex of an in utero fetus, predicting onset of a migraine in a subject, and of tracking athletic performance in a subject.

Abstract: The present invention relates to methods for identifying, assessing, preventing, and treating cancer (e.g., head, neck, and/or lung cancers in humans). A variety of PD-L1 isoform biomarkers are provided, wherein alterations in the copy number of one or more of the biomarkers and/or alterations in the amount, structure, and/or activity of one or more of the biomarkers is associated with cancer status and indicates amenability to treatment or prevention by modulating PD-1 and/or PD-L1 levels.

Abstract: Described herein are biomarkers for HPV-associated pre-cancers and cancers such as cervical cancer and cervical intraepithelial neoplasia. The RNA binding protein (RBP) and long-noncoding RNA (lnc-RNA) biomarkers can be detected and used to diagnose HPV-associated pre-cancers and cancers. In addition, early diagnosis of HPV-associated pre-cancers and cancers can facilitate therapeutic intervention in patients, particularly in the pre-cancer stage which can delay or prevent progression to cancer.

Abstract: The present disclosure provides systems and methods for the highly sensitive and effective treatment and diagnosis of cancer. The methods disclosed herein take advantage of the discovery of a series of newly identified, inter-chromosomal genetic fusion events that occur upstream from the IGF2BP3 gene, which result in elevated expression of IGF2BP3 protein. The present disclosure utilizes biomarkers developed using this set of newly discovered genetic fusion events and elevated expression of IGF2BP3 protein to not only diagnosis cancer with high sensitivity and reliability, but also to pre-select patient populations that are expected to display an elevated likelihood of success when treated with any of numerous inhibitors of IGF1R-mediated signaling.

Abstract: The invention relates generally to the use of microvesicle biomarkers such as nucleic acids, including nucleic acid signatures, and/or proteins for assessing a kidney transplant rejection in a patient. The invention further relates to assessing, and/or to monitoring kidney transplant rejection in patients who have received a renal transplant.

Abstract: Techniques are provided for detecting hematological disorders using cell-free DNA in a blood sample, e.g., using plasma or serum. For example, an assay can target one or more differentially-methylated regions specific to a particular hematological cell lineage (e.g., erythroblasts). A methylation level can be quantified from the assay to determine an amount of methylated or unmethylated DNA fragments in a cell-free mixture of the blood sample. The methylation level can be compared to one or more cutoff values, e.g., that correspond to a normal range for the particular hematological cell lineage as part of determining a level of a hematological disorder.

Abstract: Various embodiments provide compositions and methods for detecting cancers containing an NRG1 fusion event and treating a patient with a therapeutic agent that is targeted to the NRG1 fusion. Exemplary compositions for treating cancers containing the NRG1 fusion may comprise therapeutic agents inhibiting Epidermal Growth Factor Receptor and/or ERBB2 such as cetuximab, panitumumab, Sym004, MM-151, mAb 806, mAb 528, MEHD794A, gefitinib, erlotinib, lapatinib, afatinib, PD153035, AG1478, trastuzumab, and pertuzumab. In some embodiments, the therapeutic agent may be a combination of trastuzumab, and pertuzumab.

Abstract: Methods for increasing immune therapy response and predicting likelihood of cancer metastasis by analyzing the expression of genes associated with replication stress response. In some aspects, cancers are treated with immune checkpoint inhibitors and/or MEK inhibitors. Methods for selecting patients by analyzing the expression of genes associated with a defect in replication stress response are also provided.

Abstract: A method for detecting and characterising a microorganism in a clinical sample includes introducing the clinical sample to a first culture vessel and simultaneously transporting and incubating the clinical sample in a thermally insulated compartment of a sealable container. A test aliquot is removed from the sample and the remainder of the sample is further cultured. DNA is removed from the test aliquot and nucleic acid tests are performed on it to identify the microorganism and to detect the presence or absence of one or more genetic antimicrobial resistance markers in the microorganism. One or more nucleic acid probes or primers are used to perform the nucleic acid tests. It is detected whether or not the probes or primers have hybridised to DNA or the primers have been extended. If a microorganism is identified, then an antimicrobial susceptibility test is performed on the cultured clinical sample.

Abstract: Provided herein are compositions and methods for diagnosing and characterizing cancer. In particular, provided herein are compositions and methods for selecting MRI imaging methods for prostate tumors.

Abstract: Provided is a method for analysing the expression of one or more biomarker RNA molecules, comprising (A) isolating RNA from circulating tumor cells obtained from a subject, determining the expression of at least one biomarker RNA molecule in the isolated RNA and providing an expression profile based on the results; (B) isolating RNA from extracellular vesicles obtained from the subject, determining the expression of at least one biomarker RNA molecule in the isolated RNA and providing an expression profile based on the results; and (C) using the expression profiles determined in (A) and determined in (B) for a combined analysis of the results. Such combined analysis of the CTC and EV expression profiles enhances the prognostic and predictive value of the obtained results and can provide valuable diagnostic, prognostic and/or predictive information. The present method can thus be used as improved diagnostic, prognostic and/or predictive aid in the management of cancer patients.

Abstract: The present invention relates to methods for diagnosing, monitoring or prognosticating prostate cancer or the progression state of prostate cancer wherein said method determines the state of the prostate cancer, based on the expression level of phosphodiesterase 4D (PDE4D) variants. The invention further relates to a method of identifying an individual for eligibility for prostate cancer therapy. The invention also relates to products for the analysis of phosphodiesterase 4D (PDE4D) variants as well as pharmaceutical compositions modulating the activity and/or expression of PDE4D variants.

Abstract: The present invention provides a method of detecting senescent cells or diagnosing cellular senescence in a subject wherein the level of one or more selected miRNAs is quantified in a sample from said subject.

Abstract: The present invention features methods for characterizing mutational profiles in patients with bladder cancer.

Abstract: The present invention provides a complex of LNA probe and graphene oxide, and a nucleic acid detection method using the same. In the present invention, LNA-containing molecular beacon is conjugated through covalent bonding with graphene oxide, a single strand of the molecular beacon binds to a target nucleic acid to form a complex, and the complex is separated from graphene oxide to induce a fluorescence signal. The molecular beacon and graphene oxide can be covalently bonded to minimize non-specific signals, and a LNA-added molecular beacon is designed in a double strand to detect a very low concentration of target nucleic acid with high sensitivity, as well as a fluorescent signal, and the multiple target nucleic acids can be detected simultaneously through diversification of the fluorescent signal to enable easy and accurate detection of a nucleic acid biomarker whose specific expression level is specifically changed according to diseases and disease progression.

Abstract: Methods and systems for mRNA analysis and quantification of mRNA expression in cells are provided. An example method includes introducing a first capture probe and a second capture probe into the cells, the first capture probe and the second capture probe each configured to be complementary to a respective section of target mRNA within the cells, wherein binding of the first and second capture probes to the respective sections of the target mRNA results in tagging of the cells and causes the first and second capture probes to form clusters with each other. The first capture probe and the second capture probe are each bound to magnetic nanoparticles (MNPs) that, when trapped within the tagged cells, cause the tagged cells to be susceptible to magnetic forces. The method and system further include introducing the cells into a device configured to magnetically capture tagged cells.

Abstract: Nucleic acids and proteins having a mutant C-RAF sequence, and methods of identifying patients having cancer who are likely to benefit from a combination therapy and methods of treatment are provided.