Abstract: Provided are a method of diagnosing the onset of acute rejection, the method including the step of correlating expression levels of one or more miRNAs selected from the group consisting of 8 kinds of miRNAs including miR-4488, miR-4532, miR-146a-5p, miR-21-5p, miR-373-3p, miR-31-5p, miR-223-3p, and miR-210-3p, and a combination thereof with the onset of acute rejection in kidney transplant patients, a composition for diagnosing acute rejection, the composition including an agent capable of measuring the expression level of each of the miRNAs, a kit for diagnosing acute rejection, the kit including the composition, and a method of treating acute rejection, the method including the step of treating acute rejection, when the onset of acute rejection is identified by the above diagnostic method.

Abstract: Compositions, kits and methods for detecting a plurality of targets are provided herein. A probe-set composition is provided, including one or more first probes and one or more second probes. Each of the first probe includes a nucleic acid sequence complementary to a nucleic acid barcode of a corresponding target-specific binding partner, a first label, and a cleavage site for a first cleavage agent, wherein the first cleavage agent is capable of releasing the first label. Each of the second probes includes a nucleic acid sequence complementary to a nucleic acid barcode of a corresponding target-specific binding partner, a second label, a quench moiety that renders the second label undetectable, and a cleavage site for the first cleavage agent. The first cleavage agent is capable of releasing the quench moiety, whereby the second label is rendered detectable.

Abstract: The present invention provides therapeutic, diagnostic, and prognostic methods for cancer. The invention provides methods of treating a cancer, methods of determining whether an individual having a cancer is likely to respond to a treatment including an immune checkpoint inhibitor (e.g., a PD-L1 axis binding antagonist), methods of predicting responsiveness of an individual having a cancer to a treatment including an immune checkpoint inhibitor (e.g., a PD-L1 axis binding antagonist), methods of selecting a therapy for an individual having a cancer, methods of providing a prognosis for an individual having a cancer, and methods of monitoring a response of an individual having a cancer, based on a blood tumor mutational burden (bTMB) score or a maximum somatic allele frequency (MSAF) from a sample (e.g., a whole blood sample, a plasma sample, a serum sample, or a combination thereof) from the individual.

Abstract: The present invention relates to a piRNA-54265 detection kit used for early screening, diagnosis, efficacy monitoring and/or prognostic evaluation of colorectal cancer. The detection kit includes a primers combination, including a primer pair and a probe for specifically detecting piRNA-54265; the primer pair is a piRNA-54265 stem-loop PCR primer pair, or a piRNA-54265 PolyA tailed PCR primer pair; the primer pair includes a forward primer and a reverse primer.

Abstract: The present invention relates to a method, in particular an in vitro method, for identifying specific immune cells, in particular naïve CD8+ T-cells, comprising analyzing the methylation status of at least one CpG position in the mammalian gene region for endosialin (CD248), wherein a demethylation or lack of methylation of said gene region is indicative for a naïve CD8+ T-cell, when compared to a non-naïve CD8+ T-cell or any other (blood) cell type. The analyses according to the invention can identify naïve CD8+ T-cells on an epigenetic level and distinguish them from all other cells in complex samples, such as, for example, other blood or immune cells. The present invention furthermore provides an improved method for quantifying naïve CD8+ T-cells, in particular in com naïve CD8+ T-cells complex samples. The method can be performed with or without a step of purifying and/or enriching cells, preferably in whole blood and/or non-trypsinized tissue.

Abstract: The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.

Abstract: The invention provides diagnostic and therapeutic targets for pulmonary disease, in particular, fibrotic lung disease. The inventors have found that a genetic variant MUC5B gene is associated with increased expression of the gene, increased risk of developing a pulmonary disease, and an improved prognosis and survival among those developing the pulmonary disease.

Abstract: The present disclosure relates to a method for diagnosing mood disorder such as mania, depression and mania mixed using a circadian rhythm. According to the diagnostic method of the present disclosure, the condition of mood disorder can be diagnosed objectively and clearly based on the advance or delay of the circadian rhythm. That is to say, hypomania, mania, depression, mixed mania, etc. may be determined quickly and adequately so that appropriate therapeutic intervention can be made. In addition, according to the diagnostic method of the present disclosure, schizophrenia which is frequently confused with severe depression or bipolar disorder can be distinguished clearly. In addition, the selection of a therapeutic drug can be benefited greatly through this.

Abstract: Biomarkers and methods for identifying, verifying and confirming circulating serum-based microRNAs. The microRNAs (PARKmiRs) can be used to differentiate patient's suffering from Alzheimer's disease (AD) from non-AD patients.

Abstract: Dysregulated expression of microRNAs (miRNAs) has emerged as a hallmark feature in human cancers. Aspects of the disclosure relate to methods for selecting optimal therapy for a patient from several alternative treatment options. A major clinical challenge in cancer treatment is to identify the subset of patients who will benefit from a therapeutic regimen, both in metastatic and adjuvant settings. The number of anti-cancer drugs and multi-drug combinations has increased substantially in the past decade, however, treatments continue to be applied empirically using a trial-and-error approach. Here methods and compositions are provided to determine the optimal treatment option for cancer patients.

Abstract: The present invention relates to a method, in particular an in vitro method, for identifying PD1+ cells, comprising analyzing the methylation status of at least one CpG position in the mammalian gene region for Programmed cell death 1 (PDCD1), wherein a demethylation or lack of methylation of said gene region is indicative for a PD1+ cell, when compared to a non-PD1+ cell. The analyses according to the invention can identify PD1+ cells on an epigenetic level and distinguish them from all other cells in complex samples, such as, for example, other blood or immune cells. The present invention furthermore provides an improved method for quantifying PD1+ cells, in particular in complex samples. The method can be performed without a step of purifying and/or enriching cells, preferably in whole blood and/or non-trypsinized tissue.

Abstract: The present invention includes a method for analyzing RNA fragments. In one aspect, the present invention includes a method of identifying a subject in need of therapeutic intervention to treat a disease or condition, disease recurrence, or disease progression comprises characterizing the identity of rRNA fragments. The invention also includes diagnosing, identifying or monitoring a disease or condition, and a method for identifying rRNA fragments. The invention also includes diagnosing, identifying or monitoring a glaucoma in a subject in need thereof by characterizing the identity of rRNA or tRNA fragments.

Abstract: The invention provides a method of determining the epigenetic chromosome interactions which are relevant to an epigenetic test for a neurodegenerative condition.

Abstract: Provided herein are, inter alia, methods whereby response to psychotropic drugs can be predicted, methods of treating neuropsychiatric disorders, and methods of detecting a single nucleotide polymorphism (SNP) relating to treating neuropsychiatric disorders.

Abstract: Described herein is a genetic modifier of cystic fibrosis (CF), which may serve as a predictor of the efficacy of a CFTR-directed therapy. SNPs rs7512462 or rs2869027 in non-coding regions of SLC26A9 are shown to correlate with CF lung disease severity in patients having CFTR mutations that leave protein at the cell surface, e.g. gating mutations such as G551D. It is also shown that patient response to Ivacaftor correlates with SLC26A9 genotype. Given the biology of SLC26A9, risk alleles of SLC26A9 should correlate with reduced SLC26A9. SLC26A9 activity (marked by e.g. genotype or expression level) is therefore a predictor of treatment efficacy for any CFTR-directed therapeutic, such as Ivacaftor or Lumacaftor. Associated methods of selecting and treating patients are described, along with related kits, uses, and drug discovery platforms.

Abstract: There is described herein a method of prognosing and/or predicting disease progression and/or in subject with prostate cancer, the method comprising: a) providing a sample containing mitochondrial genetic material from prostate cancer cells; b) sequencing the mitochondrial genetic material with respect to at least 1 patient biomarker selected from CSB1, OHR, ATP8 and HV1 (hypervariable region 1); c) comparing the sequence of the patient biomarkers to control or reference biomarkers to determine mitochondrial single nucleotide variations (mtSNVs); and d) determining the a prostate cancer prognosis; wherein a relatively worse outcome is associated with the presence of mtSNVs in CSB1, OHR, ATP8 and a relatively better outcome is associated with the presence of mtSNVs in HV1.

Abstract: The present invention relates to a composition for DNA sequence analysis and a method for DNA sequence analysis, the method comprising treating a sample with the composition. The composition of the present invention can attain efficient optical identification at a single-DNA molecule level by linking both an A/T-specific DNA-binder agent and an A/T-non-specific complementary DNA-binder agent to DNA, and thus can be helpfully used in studying chromosomal organization of genomes, protein immunolocalization, and the like.

Abstract: The present invention relates to methods and devices for identifying and quantifying, including low abundance, nucleotide base mutations, insertions, deletions, translocations, splice variants, miRNA variants, alternative transcripts, alternative start sites, alternative coding sequences, alternative non-coding sequences, alternative splicings, exon insertions, exon deletions, intron insertions, or other rearrangement at the genome level and/or methylated nucleotide bases.

Abstract: In one aspect, the present invention features method of identifying a cell resistant to a modulator of Cereblon (CRBN). In another aspect, the present invention features a method of characterizing sensitivity of a subject to a modulator of CRBN. In yet another aspect, the present invention features a method of monitoring sensitivity of a subject to a modulator of CRBN.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.