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12 results about "S genotyping" patented technology

Diffuse large B-cell lymphoma genotype classification method, device and storage medium

The embodiment of the present application discloses a genotype classification method for diffuse large B-cell lymphoma, a computer device, and a computer-readable storage medium. The method includes the following steps: testing a sample according to a preset specific gene set to obtain variation detection data; preprocessing the variation detection data to obtain variation information; generating an initial feature matrix based on the variation information, screening the initial feature matrix to obtain a feature matrix, and the feature matrix is ​​used to characterize the gene variation contained in the specific gene set in the corresponding sample; obtaining a first genotype label and an important feature set, constructing a data set based on the feature matrix, the first genotype label, and the important feature set, and training a classification model; obtaining a second genotype label output by the classification model, and determining a genotype classification report based on the second genotype label. Therefore, the present application can reduce the cost of testing, can effectively predict the patient's genotype, and has a high clinical application value.
Owner:GUANGZHOU KINGMED CENTER FOR CLINICAL LABORATORY CO LTD +1

Method of treatment of schizophrenia

ActiveUS12544367B2Organic active ingredientsNervous disorderMetaboliteManagement of schizophrenia
The invention relates generally to improvements in the treatment of psychotic symptoms, and more particularly, to improvements in the identification of an individual or a population of individuals for whom treatment with iloperidone, an iloperidone metabolite, or pharmaceutically-acceptable salts thereof may provide a particular benefit in treating an individual's psychotic symptoms based on the individual's genotype at the PPEF2 locus.
Owner:VANDA PHARMACEUTICALS INC

Genotype estimation device and genotype estimation program relating to eye disease

PendingJP2026032682AImage analysisFermentationMedicineHereditary Eye Diseases
To provide a device and a program for accurately estimating the genotype of a patient developing a hereditary eye disease in a short time.SOLUTION: A genotype estimation device includes an estimation unit that estimates a genotype related to an eye disease of a patient, and the estimation unit estimates the genotype of the patient from image information of an eye of the patient by using a machine learning model generated based on training data including genetic information of the patient and the image information of the eye of the patient.SELECTED DRAWING: Figure 1
Owner:KYOTO PREFECTURAL PUBLIC UNIV CORP

Genotype-specific methods and systems for treating neurodegenerative diseases

The present disclosure provides methods of treating a neurodegenerative disease in a subject in need thereof. A therapeutically effective dose of a combination of a suitable mast cell stabilizer and an NSAID may be administered to a suitable subject, wherein the suitability of the subject is determined by the subject genotype. In certain embodiments, the combination therapy may comprise a combination of a cromoglycin homolog salt and an NSAID, and a suitable subject is a person that is not a carrier of an APOE [epsilon] 4 variant of the APOE gene.
Owner:PHENONET INC

Next-generation artificial intelligence bioinformatics individual geographic provenance method

This invention discloses a new generation of artificial intelligence bioinformatics method for individual geographic tracing, belonging to the field of wildlife DNA geographic tracing technology, including the following steps: S1, obtaining DNA from biological samples; S2, constructing a novel artificial intelligence DNA individual tracing model based on a convolutional neural network module, combined with a CBAM spatial attention module and a multilayer perceptron; S3, training the artificial intelligence DNA individual tracing model using the sample's genotype data and background sampling geographic data as inputs, and optimizing the model parameters using cross-validation; S4, using the artificial intelligence DNA individual tracing model to predict the geographic coordinates of individual DNA from unknown samples. This invention has the ability to integrate data from different species and batches, greatly simplifying the dataset integration process, significantly reducing complexity, and improving repeatability, enabling the prediction of accurate individual geographic locations.
Owner:BEIJING FORESTRY UNIVERSITY

Amplification and data collection protocol for rapid genotyping

PCT designated stageWO2025175243A1Microbiological testing/measurementGenotypingS genotyping
Disclosed herein are methods of genotyping a crude nucleic acid sample, the methods including: subjecting the crude nucleic acid sample to a polymerase chain reaction (PCR) mixture directly after obtaining the crude nucleic acid sample from a source; performing rapid PCR on the crude nucleic acid sample by subjecting the crude nucleic acid sample to a first plurality of amplification cycles and followed by at least one second amplification cycle; and analyzing results from the rapid PCR to determine the nucleic acid sample's genotype. Each cycle of the first plurality of amplification cycles includes performing denaturation followed by annealing and extension without collecting amplification data. The at least second amplification cycle includes performing denaturation followed by annealing and extension while simultaneously collecting amplification data. Methods of detecting a disease in a subject are also disclosed.
Owner:LIFE TECHNOLOGIES CORP

Polygenic risk scores for predicting disease complications and / or response to therapy

Methods, processes, and systems for predicting a subject's disease complications and / or response to therapy are described herein. The methods generally comprise genotyping or receiving genotyping information from the subject at a plurality of risk alleles associated with the disease and at a plurality of ancestry-informative markers. The genotyping information is used to generate a polygenic risk score (PRS) by weighting the number of risk alleles by the effect size of their association (weighted genetic risk score or wGRS), combined with a geo-ethnic principal component (PC) determined from the subject's genotype at said ancestry-informative markers. The PRS enables better prediction of the subject's disease complications and / or response to therapy, as compared to a corresponding PRS generated lacking the geo-ethnic principal component. Computer-implemented methods and processes are also described herein.
Owner:OPTI THERA INC +2

Genotype-specific methods and systems for the treatment of neurodegenerative diseases

This disclosure provides a method for treating neurodegenerative diseases in subjects requiring treatment for neurodegenerative diseases. A therapeutically effective dose of a suitable combination of a mast cell stabilizer and an NSAID may be administered to a suitable subject, where the subject's eligibility is determined by the subject's genotype. In certain embodiments, the combination therapy comprises a combination of a cromolyn homologous salt and an NSAID, and the suitable subject is not a carrier of the APOE ε4 variant of the APOE gene.
Owner:PHENONET INC

Therapeutic methods for treating subjects having a risk allele in il33

Methods of treating a patient suffering from an interleukin (IL) -33-mediated disorder and methods for determining whether a patient is at increased risk of suffering from an IL-33-mediated disorder or methods for determining whether a patient suffering from a disorder has an increased likelihood of responding to an anti-IL-33 therapy are provided.SOLUTION: A method for treating a patient suffering from asthma, the method comprising administering an IL-33 axis binding antagonist to the patient, wherein the patient's genotype has been determined to comprise at least one allele of a cluster 2 polymorphism defined elsewhere or an equivalent allele at a polymorphism in linkage disequilibrium therewith.SELECTED DRAWING: None
Owner:MEDIMMUNE LTD

Methods for rapid extraction-free genotyping

PCT designated stageWO2025175212A1Microbiological testing/measurementGenotypingS genotyping
Disclosed herein are methods of genotyping a crude nucleic acid sample, the methods including: subjecting the crude nucleic acid sample to a polymerase chain reaction (PCR) mixture directly after obtaining the crude nucleic acid sample from a source; incubating the crude nucleic acid sample in the PCR mixture for a set period of time; performing rapid PCR on the incubated crude nucleic acid sample; and analyzing results from the rapid PCR to determine the nucleic acid sample's genotype. Methods of detecting a disease in a subject are also disclosed.
Owner:LIFE TECHNOLOGIES CORP

A liquid phase chip for oolong tea trees and its application

This invention relates to the field of whole-genome gene chips, specifically to a liquid-phase chip for oolong tea trees and its applications. The chip's genotyping targets include 45,477 SNP loci, all derived from the genome of the oolong tea variety Tieguanyin. Locus information is shown in Table 1. This invention mines SNP loci from large-scale resequencing data, using the oolong tea tree genome as a reference, discovering and screening 45,477 SNP loci (approximately 40K) suitable for chip design. The designed liquid-phase chip enables genotyping, demonstrating high application value in multiple related fields, including oolong tea germplasm resource conservation, oolong tea variety breeding, and other tea tree resource breeding.
Owner:TEA RES INST OF FUJIAN ACADEMY OF AGRI SCI