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6 results about "Mutational analysis" patented technology

Mutational analysis is especially important in GIST because most GISTs are defined by activating mutations in the KIT or PDGFRA genes. Moreover, the response of GISTs to certain drug treatments varies according to the mutation status of the tumors.

Tumor whole exon sequencing panoramic variation map analysis method and system based on Argo Workflows

The invention discloses a tumor whole exon sequencing panoramic variation map analysis method and system based on Argo Workflows. The method comprises the steps that all analysis tools involved in the variation type analysis process of whole exon sequencing original data of a tumor sample and a normal sample paired with the tumor sample are packaged into independent Docker containers through Argo Workflows; performing sequence alignment on the whole exon sequencing original data by using two parallel task branches; performing data preprocessing by using two parallel task branches; s4, performing parallel execution of embryonic line mutation analysis, copy number variation analysis, MSI state analysis and somatic mutation detection on the tumor and normal sample sequence comparison data; calculating a tumor neoantigen prediction result and a TMB value; and summarizing to generate a tumor whole exon sequencing panoramic variation map. The method simplifies operation, reduces manual intervention, improves accuracy, improves analysis efficiency and has repeatability.
Owner:SHENSHAN MEDICAL CENT MEMORIAL HOSPITAL OF SUN YAT-SEN UNIV

DNA methylation and mutational analysis methods for bladder cancer surveillance

The present disclosure relates to methods of monitoring bladder cancer patients and analyzing patient samples for presence of methylated DNA and optionally particular gene mutations. In some embodiments, analysis results are correlated with clinical outcome measures such as risk of bladder cancer recurrence.
Owner:GENOMIC HEALTH INC

Method and system for gene editing material testing

An objective of the present invention is to provide a method for gene editing material testing. The method comprises: constructing a plurality of specific recognition sequences; on the basis of the specific recognition sequences, sequencing gene fragments; and using SuperDecode software to decode a sequencing result. The present invention can quickly test gene editing results of a large number of samples, detect all types of mutations in gene editing materials in all aspects, and make it convenient for researchers who are not skilled in using various computer programming languages to perform mutation analysis on sequencing results in a short time.
Owner:SOUTH CHINA AGRICULTURAL UNIVERSITY

Method and system for determining suitable grain size for landscape pattern analysis

The application provides a landscape pattern analysis suitable granularity determination method and system, comprising: generating a first multi-granularity sequence according to a maximum area value rule (RMA) with a coarse step length from target area high-resolution land cover or land use vector data, and determining a granularity upper limit threshold and a scale domain according to three conservation criteria of landscape composition, area and pattern form; generating a second multi-granularity sequence in the scale domain according to the RMA rule with a fine step length, and calculating a scale effect sensitive landscape pattern index of the second multi-granularity sequence; and performing mutation analysis by using a non-parametric rank test (Mann-Kendall and Pettitt test), and taking the highest frequency effective mutation point as the suitable granularity. The application solves the problems of traditional methods, such as ignoring landscape pattern form loss, strong subjectivity of granularity judgment, data distribution dependence and the like by quantifying information loss and non-parametric mutation test, and improves the objectivity of granularity decision and the ecological application precision.
Owner:SHANGHAI CONSTR LAND & LAND CONSOLIDATION AFFAIRS CENT

Application of agents that inhibit NNMT binding to FGFR1 in tumor prevention and treatment

This invention provides the application of agents that inhibit NNMT binding to FGFR1 in the prevention and treatment of tumors. Through mutation analysis and interactomics analysis, it reveals a previously unknown, non-enzyme-dependent role of NNMT in promoting aerobic glycolysis in breast cancer. It discovers that NNMT binds to FGFR1 and acts as a scaffold protein, promoting phosphorylation of PKM2 and LDHA at Y105 and Y10 sites, respectively. By positioning the FGFR1 binding interface to the 140-154 amino acid region of NNMT, this invention designs a competitive cell-penetrating peptide, NNMT-15, which can disrupt the NNMT-FGFR1 interaction, reduce the phosphorylation levels of PKM2 and LDHA, inhibit glycolysis, and suppress proliferation in NNMT-high-expressing cancer cells and cancer-associated fibroblasts. These findings reveal NNMT as a dual-function metabolic regulator and establish the NNMT-FGFR1 scaffolding effect as a targeted therapeutic axis in glycolysis-dependent tumors.
Owner:THE AFFILIATED SIR RUN RUN SHAW HOSPITAL OF SCHOOL OF MEDICINE ZHEJIANG UNIV

A circuit breaker anomaly early warning method, system and related device

This application provides a circuit breaker anomaly early warning method, comprising: acquiring real-time characteristic parameter data containing the circuit breaker's operating status; processing the real-time characteristic parameter data to obtain a corresponding time series; constructing a time series to obtain a time point sequence; performing mutation analysis on the characteristic parameter data in the time point sequence to obtain mutation analysis results; and determining the current operating status of the circuit breaker based on the mutation analysis results. This application can detect potential mutation points that may lead to faults before the circuit breaker experiences anomalies. Through a mutation anomaly early warning analysis model, it can accurately identify abnormal mutation characteristics in the early stages of circuit breaker faults, thereby effectively reducing the circuit breaker's failure rate and ensuring its safe operation. This application also provides a circuit breaker anomaly early warning system, a computer-readable storage medium, and an electronic device, which have the aforementioned beneficial effects.
Owner:FUJIAN HUADIAN KEMEN POWER GENERATION CO LTD +2