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751 results about "Genetic testing" patented technology

<ul><li>Results of molecular diagnostic tests report mutations that can lead to single gene disorders and chromosomal analyses report abnormalities in chromosomes such as deletions and duplications that could be indicative of specific syndromes.</li><li>Test results can determine the presence of, or risk of developing/passing on certain diseases and sometimes also help to decide the appropriate medical treatment.</li></ul>

Genetic disease gene detection data analysis method and system based on big data

The invention provides a genetic disease gene detection data analysis method and system based on big data, and relates to the technical field of gene detection data analys.The genetic disease gene detection data analysis method comprises the steps that quality control and duplicate removal are conducted on gene sequencing original data, sequence comparison and variation detection are conducted, and a standard variation detection report is generated; performing multi-scale feature sampling and optimization by using an improved random field diffusion model, inputting high-dimensional feature distribution into a dual self-activation iterative network for feature extraction and integration to obtain a feature mapping matrix and a feature evolution trajectory, and inputting the feature mapping matrix and the feature evolution trajectory into an integrated predictor to obtain an integrated predictor; and in combination with Gaussian mixture process regression analysis and an improved Bayesian reasoning network, establishing a risk association network and training a deep hierarchical decision tree, and outputting a multi-dimensional risk assessment report.
Owner:CHANGZHOU CHILDRENS HOSPITAL (CHANGZHOU SIXTH PEOPLES HOSPITAL)

Personalized adult nutrition health care product customization system and method

The invention relates to the technical field of nutrition health care product customization, and discloses a personalized adult nutrition health care product customization system and method. The method comprises the following steps: collecting biological characteristics, dietary habits, health targets and gene detection data of a user, and constructing a nutritional requirement database through labeling and preprocessing; a multi-dimensional nutrition demand tensor is generated through principal component analysis, clustering analysis and the like, the matching degree of a target user and a representative sample is calculated, a weighted matching degree vector is obtained through neural network optimization, and then a personalized nutrition formula substrate is generated and optimized through a genetic algorithm. Kalman filtering is used for adjusting a formula according to real-time health data of a user, monitoring deviation to trigger reconstruction, associating a historical scheme to update a nutrition rule base, and finally outputting a nutrition formula coded as a production instruction, so that accurate personalized customization is realized, and nutrition is safe, reasonable and traceable.
Owner:SHANDONG MUSEN BIOTECHNOLOGY CO LTD

Lung cancer gene mutation classification method based on frequency domain multi-scale fusion guidance

The invention discloses a lung cancer gene mutation classification method based on frequency domain multi-scale fusion guidance, and relates to the technical field of medical image processing and gene detection. According to the MFHA mechanism provided by the invention, the pathological image is decoupled into low-frequency global and high-frequency detail sub-bands through wavelet transform, and extraction of key high-frequency features such as cell nucleus morphology and local texture is enhanced by combining multi-scale convolution and up-sampling guided by high-frequency information; the problems of insufficient feature detail mining and low feature fusion efficiency in a traditional pathological image analysis method are solved; key features are screened and focused through a channel, frequency domain-space feature deep fusion is realized through up-sampling, robust representation is constructed by combining space attention with cosine similarity and multi-dimensional statistical features, a frequency domain analysis-space focusing collaborative optimization mechanism is formed, information redundancy caused by simple feature splicing is avoided, and the robustness of the system is improved. And the classification stability of the model in a complex pathological scene is improved.
Owner:CHONGQING NORMAL UNIVERSITY +1

Pulmonary nodule risk prediction method, system and device based on large model and medium

The invention discloses a pulmonary nodule risk prediction method, system and device based on a large model, and a medium, belongs to the technical field of artificial intelligence, and aims to solve the technical problems of insufficient generalization ability of a network model and poor pulmonary nodule multi-task prediction effect in the prior art. The method comprises the following steps: acquiring sample data of multiple modalities including medical images, gene detection and demographic data; single-mode features are obtained through an exclusive feature extraction module, and then the single-mode features are input into a plurality of expert networks to obtain single-mode experts; obtaining a multi-modal feature after the single-modal feature passes through a cross-modal attention module, and inputting the multi-modal feature into a plurality of expert networks to obtain a plurality of multi-modal experts; the three task MoE modules are all provided with task gating networks in a matched mode, and the task MoE modules select the most appropriate expert set according to the calculated probability that each expert is activated; acquiring to-be-predicted data, inputting the to-be-predicted data into the selected expert set, and outputting malignant, growth and wettability risk prediction results of the pulmonary nodules by the task model.
Owner:WEST CHINA HOSPITAL SICHUAN UNIV

Molecular marker methylation level detection reagent for primary hepatocellular carcinoma and its application

The present invention discloses the application of a molecular marker methylation level detection reagent for primary hepatocellular carcinoma in the preparation of a detection reagent product, and belongs to the field of gene detection technology. By screening the methylation level of the CpG site in the detected region and its reverse complementary sequence, it is identified whether the target sample is from a primary hepatocellular carcinoma patient. The methylation level of the CpG site in the above region has good sensitivity and specificity for the screening or auxiliary diagnosis of primary hepatocellular carcinoma, and can be used to distinguish samples from patients with primary hepatocellular carcinoma, samples from patients with benign liver diseases (cirrhosis, hepatitis, etc.) and samples from healthy people. The detection reagent and application of the methylation level of the molecular marker can improve the detection rate of early primary hepatocellular carcinoma.
Owner:BEIJING LAIMENG JUNTAI INTL MEDICAL TCHNLGY DVLPMNT CO LTD +1

Primer group, kit and detection method for detecting brucella

The invention discloses a primer group, a kit and a method for detecting brucella, and belongs to the technical field of gene detection. The primer group comprises two pairs of specific RPA (recombinase polymerase amplification) primers: a primer pair B1F1 (SEQ ID No.3) and a primer pair B1R1 (SEQ ID No.6) targeting a B1 sequence, and a primer pair B2F1 (SEQ ID No.8) and a primer pair B2R1 (SEQ ID No.11) targeting a B2 sequence. The invention also provides a kit containing the primer group, and a detection method based on the RPA-CRISPR-Cas12a. The invention also provides a kit containing the primer group and a detection method based on the RPA-CRISPR-Cas12a. According to the application, the high efficiency of RPA amplification is combined with the ultrahigh specificity of CRISPR-Cas12a detection, the defects of long time consumption, low sensitivity and easy generation of false positive in the traditional method are overcome, rapid, sensitive and specific detection of Brucella is realized, and the application has important application value in early screening and monitoring of Brucella.
Owner:JILIN UNIV FIRST HOSPITAL

RPA-CRISPR / Cas12a-based staphylococcus aureus or drug-resistant gene detection composition thereof, kit, detection method and application of RPA-CRISPR / Cas12a-based staphylococcus aureus or drug-resistant gene detection composition

The invention provides a composition, a kit and a detection method for detecting staphylococcus aureus or a drug-resistant gene thereof based on RPA-CRISPR / Cas12a and application of the composition, the kit and the detection method, and belongs to the technical field of gene detection. A CRISPR / Cas12a system is combined with recombinase polymerase amplification (RPA), an RPA-CRISPR / Cas12a detection method for rapidly detecting the staphylococcus aureus in the wastewater and the drug-resistant gene of the staphylococcus aureus is established, a specific primer and crRNA are designed, the high-specificity nucleic acid cutting capability of a gene editing enzyme CRISPR / CAS system and the isothermal rapid amplification advantage of a nucleic acid isothermal amplification technology are fully fused, and the detection method has the advantages of high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity, high specificity The fluorescent probe has high-specificity sequence recognition capability, realizes efficient detection of target nucleic acid, is strong in detection specificity, high in sensitivity and simple and convenient to operate, does not need complex equipment and professionals, and is suitable for rapid detection in an on-site environment with limited resources.
Owner:HANSHAN NORMAL UNIV

Primer probe combination and kit for on-site detection of shrimp viruses

The invention discloses a primer probe combination and a kit for detecting shrimp viruses on site, and relates to the technical field of gene detection. The invention provides a primer probe combination for detecting enterocytozoon hepatopenaei, prawn white spot syndrome virus and macrobrachium rosenbergii nodavirus on site. The primer probe combination comprises a primer pair and a probe for detecting enterocytozoon hepatopenaei, the primer pair and the probe are used for detecting the prawn white spot syndrome virus; the invention discloses a primer pair and a probe for detecting macrobrachium rosenbergii nodavirus. The method for detecting the shrimp viruses by adopting the primer probe combination and the kit disclosed by the invention integrates sample pretreatment, nucleic acid extraction, purification, amplification and detection, has better sensitivity and accuracy, is simple, convenient, rapid and time-saving to operate, and plays an important role in on-site rapid detection of research and safety management of the shrimp viruses.
Owner:INTEGRATED BIOSYSTEMS CO LTD +1

Primer probe combination and kit for on-site detection of transgenic soybean transformant

The invention discloses a primer probe combination and a kit for on-site detection of a transgenic soybean transformant, and relates to the technical field of transgenic detection. The invention provides a primer probe combination for on-site detection of a transgenic soybean transformant. The primer probe combination comprises a primer pair and a probe for detecting a soybean endogenous gene, the primer pair and the probe are used for detecting the transgenic soybean strain GTS40-3-2; the primer pair and the probe are used for detecting the transgenic soybean strain DBN9004; the primer pair and the probe are used for detecting yellow 6106 in a transgenic soybean line; the primer pair and the probe are used for detecting IPC. The method for detecting the transgenic soybeans by adopting the primer probe combination and the kit disclosed by the invention integrates sample pretreatment, nucleic acid extraction, purification, amplification and detection, has better sensitivity and accuracy, is simple and convenient to operate, rapid and time-saving, and plays an important role in on-site rapid detection of transgenic soybean research and safety management.
Owner:DEVELOPMENT CENTER OF SCIENCE & TECHNOLOGY MARA +1

Molecular marker related to egg shape index and application thereof

The invention provides a molecular marker related to an egg shape index and application of the molecular marker, and belongs to the technical field of gene detection. The molecular marker related to the egg shape index is an SNP (Single Nucleotide Polymorphism) molecular marker and corresponds to the 14522218th site from the 5'terminal on a chromosome 7 of chicken reference genome Galusgallus 7.0 W version sequence information published in ENSEMBL, and the basic group at the site is A / G. According to the technical scheme, the SNP molecular marker is related to the egg shape index and is a new molecular marker, the breeding progress of the character can be accelerated by detecting the genotype of the site of a chicken individual to be detected and performing early selection on the chicken with the dominant genotype, a large amount of time and eggs cannot be consumed, and the breeding efficiency is improved. The method has great application value and economic benefit.
Owner:INSTITUTE OF ANIMAL SCIENCES OF CHINESE ACADEMY OF AGRICULTURAL SCIENCES

SNP (Single Nucleotide Polymorphism) molecular marker, primer pair, kit and detection method for g.64930 site of PPARG (Peroxisome Peroxisome Activated Receptor Gene) gene of Anhui local variety cattle and application of SNP molecular marker

The invention belongs to the technical field of gene detection, and particularly relates to an SNP (Single Nucleotide Polymorphism) molecular marker, a primer pair, a kit, a detection method and application of a g.64930 site of a PPARG (Peroxisome Peroxisome Activated Receptor Gene) gene of Anhui local variety cattle. The nucleotide sequences of the molecular marker are as shown in SEQ ID NO.1 and SEQ ID NO.2, when the basic group at the 118th site of the 5'end of the molecular marker is G, the meat color brightness of beef is higher than that when the basic group at the site is T, and the muscle pH is lower than that when the basic group at the site is T. The molecular marker can be used as a candidate molecular marker for the quality character of the Anhui local variety cattle, is applied to population breeding of the Anhui local variety cattle, and is combined with production requirements for molecular-assisted breeding, so that a theoretical basis is conveniently provided for variety resource development and breeding of the Anhui local variety cattle.
Owner:ANHUI SCI & TECH UNIV

Miniaturized portable fluorescence microplate reader for instant fluorescence detection

The invention relates to the technical field of biological detection, in particular to a miniaturized portable fluorescence microplate reader for instant fluorescence detection, and aims to provide a fluorescence detection scheme which is portable, high in sensitivity and quick in response. The detector integrates an MCU microcontroller, a voltage conversion module, a light source driving module, a motor driving module, a photoelectric detection module, an AD sampling module, an automatic temperature control module based on a PID algorithm, a signal processing system and a data processing system. High-sensitivity and high-resolution detection of a fluorescent sample can be realized, the concentration of the sample can be detected in real time, and the change process of the concentration of the sample can be presented through a kinetic curve. Through the optimization of the structure, optics and electronic circuits, the instrument is more miniaturized and has portability. Due to the advantages of portability, high sensitivity, quick response and the like, the kit has wide application prospects in multiple fields of basic research of nucleic acid, gene expression, sequence analysis, transgenic detection and the like.
Owner:HAINAN MICROKRYPTON BIOTECHNOLOGY CO LTD +1

Method and system for detecting respiratory tract pathogens, pathogen drug-resistant genes and pathogen virulence genes

The invention discloses a method and system for detecting respiratory tract pathogens, pathogen drug-resistant genes and pathogen virulence genes, and relates to the technical field of gene detection.The method comprises the steps that a respiratory tract sample of a patient is collected, DNA and RNA are extracted, and total nucleic acid is obtained; carrying out first-round PCR amplification on the total nucleic acid, purifying a first-round PCR product, carrying out second-round PCR amplification, and sorting the product to obtain a library building product; performing high-throughput sequencing on the library building product to obtain sequencing data, and detecting pathogens, drug-resistant genes and virulence genes; according to the method and system for detecting the respiratory tract pathogens, the pathogen drug-resistant genes and the pathogen virulence genes, by optimizing library preparation and direct library building of nucleic acid, the process is simplified, and efficiency and accuracy are improved; the balance reagent design guarantees library quality; the kit adapts to pathogen detection requirements in Yunnan and the like, provides efficient diagnosis, shortens detection time, improves treatment effect, regularly updates pathogen information, and keeps technical frontier.
Owner:THE THIRD PEOPLES HOSPITAL OF KUNMING

Thyroid nodule benign and malignant classification method based on clinical information, radiomics and gene detection

PendingCN120356530AImage enhancementImage analysisIn silico medicineMalignancy
The invention relates to the technical field of computer medical detection, in particular to a thyroid nodule benign and malignant classification method based on clinical information, radiomics and gene detection. According to the method, pathological diagnosis of thyroid nodules is used as a dependent variable, detection data including radiomics characteristics and molecular omics are used as continuous variables, and the detection data of at least three genes CLDN10, HMGA2 and LANM3 are selected as the data of the molecular omics; meanwhile, in combination with part of clinical pathological characteristics including gender, age and BRAF V600E mutation condition factors, a thyroid nodule preoperative diagnosis prediction model based on radiomics and molecular omics is constructed through an SVM modeling method. Gene detection, radiomics and clinical basic information are combined, and a thyroid nodule diagnosis model based on the combination is established on the basis of Chinese population. The method is used for assisting clinicians in distinguishing benign and malignant thyroid nodules and guiding clinical decisions
Owner:THE FIRST AFFILIATED HOSPITAL OF WENZHOU MEDICAL UNIV

Myocardial amyloidosis classification prediction method and system based on cardiac magnetic resonance multi-sequence radiomics

The invention provides a myocardial amyloidosis classification prediction method and system based on cardiac magnetic resonance multi-sequence radiomics, and is applied to the technical field of data processing. The method comprises the following steps: preprocessing cardiac magnetic resonance multi-sequence image information to generate a standardized multi-sequence image data set; processing the standardized multi-sequence image data set to generate a target image omics feature vector; processing the gene detection information to generate pathogenic gene characteristics and mutation type characteristics; processing the target radiomics feature vectors and the cardiac magnetic resonance parameters based on medical knowledge graph data to generate an AL type myocardial feature associated feature set and an ATTR type myocardial feature associated feature set; processing the blood detection index information and the intestinal microflora parameter information to generate myocardial amyloidosis influence factors; and processing the data based on the target myocardial amyloidosis classification prediction model to generate a myocardial amyloidosis classification prediction result.
Owner:PEKING UNION MEDICAL COLLEGE HOSPITAL

Preparation method of light-regulated single-stranded DNA and application of light-regulated single-stranded DNA in CRISPR nucleic acid detection

The invention discloses a preparation method of light-regulated single-stranded DNA and application of the light-regulated single-stranded DNA in CRISPR nucleic acid detection. According to the invention, Lambda excision enzyme and a primer modified with PC-Linker are introduced into a detection system based on RPA-CRISPR / Cas12a, and a one-tube nucleic acid detection system without PAM limitation is constructed. By introducing Lambda excision enzyme, the strict dependence of the traditional CRISPR / Cas12a detection technology on PAM sites is broken through, and the application range of the CRISPR / Cas12a detection technology is remarkably widened. And the system is integrated into one-tube detection, so that the risk of aerosol pollution caused by opening a cover for multiple times and transferring a sample is avoided while the experimental operation process is simplified. According to the research, CRISPR / Cas12a and CRISPR / Cas13a are further integrated into a single-tube reaction system, so that the probability of false negative results is reduced in a double-gene detection manner, and the detection accuracy is improved.
Owner:SOUTH CHINA NORMAL UNIV

Carbapenem drug resistance gene nucleic acid fluorescence PCR method detection kit and application thereof

The invention designs a carbapenem drug-resistant gene nucleic acid fluorescent PCR method detection kit and application thereof, the kit uses Taqman fluorescent probe multiple amplification technology to detect carbapenem drug-resistant genes, the kit comprises a nucleic acid reaction liquid Mix1 and a nucleic acid reaction liquid Mix2, the nucleic acid reaction liquid Mix1 is used for detecting drug-resistant genes IMP, NDM and OXA48, the nucleic acid reaction liquid Mix2 is used for detecting drug-resistant genes IMP, NDM and OXA48, and the nucleic acid reaction liquid Mix2 is used for detecting drug-resistant genes IMP, NDM and OXA48. The nucleic acid reaction liquid Mix2 is used for detecting drug resistance genes VIM, KPC and OXA23. The method is high in detection specificity, and the detection result is visual and easy to interpret. Clinical doctors are assisted to judge respiratory tract pathogen infection more comprehensively and more accurately. The kit covers six carbapenem drug resistance genes, is more comprehensive and accurate in detection, and is high in specificity and sensitivity. Meanwhile, multiple sample types can be detected, a sputum sample, an excrement sample and a rectum swab sample are detected through paramagnetic particle extraction, and pure bacterial colonies are directly detected without extraction.
Owner:JIANGSU MACRO&MICRO TEST MED TECH CO LTD +1

Meat duck whole genome molecular probe combination, 50K gene chip and application thereof

The invention belongs to the technical field of gene detection and gene molecular breeding, and particularly relates to a meat duck whole genome molecular probe combination based on molecular phenotype screening, a 50K gene chip and application thereof. The molecular probe combination and the gene chip of the marker site combination for meat duck whole genome breeding simultaneously cover 7 representative meat duck varieties and 71 economic characters, have richer polymorphism and higher pertinence in meat duck groups, and are lower in cost and higher in speed compared with high-throughput sequencing detection; the breeding chip is designed according to the growth, feed efficiency, slaughtering, breeding, egg quality and various molecular phenotypes of the meat ducks, and compared with a high-throughput sequencing technology, the breeding chip is higher in seed selection accuracy, has higher breeding value, can be widely applied to breeding genotype detection of the meat ducks, and can be used for detecting the breeding genotypes of the meat ducks. And the method has creative significance in the aspect of meat duck genome selective breeding.
Owner:INSTITUTE OF ANIMAL SCIENCES OF CHINESE ACADEMY OF AGRICULTURAL SCIENCES +1

Primer group for identifying multiple genes of 10 bacteria related to lower respiratory tract infection and application of primer group

PendingCN120060508AMicrobiological testing/measurementMicroorganism based processesStreptococcus pyogenesBacteria identification
The invention provides a primer group for identifying multiple genes of ten bacteria related to lower respiratory tract infection and application of the primer group, and belongs to the technical field of gene detection, the sequence of the primer group is shown as SEQ ID NO.1-20, the primer group designs specific primers for ten bacteria such as pseudomonas aeruginosa and streptococcus pyogenes, and the specific primers of ten genes of a 5'end primer are labeled by FAM fluorescence. 10 target gene loci and 2 internal reference loci can be detected in one PCR system, the traditional PCR deviation is overcome, and gene expression is accurately quantified. The reagent and the kit developed on the basis have the advantages of simplicity and convenience in operation, low cost, high accuracy and the like. When the kit is used, DNA of a sample is extracted for multiple PCR, and pathogen load is determined through electrophoresis and software analysis. Experiments prove that the method has strong specificity and high sensitivity to 10 bacteria, and has important application value in LRTI bacterial identification.
Owner:HUADONG HOSPITAL +1

Rs17771861 and application thereof in preparation of reagent for nasopharyngeal carcinoma prognosis prediction

The invention belongs to the field of tumor medicine and the technical field of molecular biology and gene detection, and relates to application of rs17771861 in preparation of a nasopharyngeal carcinoma prognosis prediction marker, and the sequence of the SNP site rs17771861 is as shown in SEQ ID NO.1. The invention also relates to application of the SNP site rs17771861 in preparation of a nasopharyngeal carcinoma prognosis prediction marker. The invention provides an SNP (Single Nucleotide Polymorphism) marker rs17771861 related to nasopharyngeal carcinoma prognosis, application of the SNP marker rs17771861 and a detection kit capable of being used for nasopharyngeal carcinoma prognosis prediction, and the SNP marker rs17771861 is used for assisting in guiding individualized treatment and improving prognosis of tumor patients. After the kit disclosed by the invention is applied to clinical detection, prognosis of a patient can be evaluated before treatment, and a more positive and effective treatment scheme is formulated for the patient with poor prognosis, so that individualized treatment of the patient is realized, and the survival rate is increased. In addition, the kit only needs to detect peripheral blood, and has the characteristics of convenience in sampling, simplicity in operation, high timeliness and the like.
Owner:THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV

Kit for quantitatively detecting target nucleic acid and application thereof

The invention provides a kit for quantitatively detecting target nucleic acid and application of the kit, and belongs to the technical field of gene detection. The invention provides a kit for detecting target nucleic acid. The kit comprises an SPR (Surface Plasmon Resonance) biosensor chip fixed with a DNA tetrahedron probe, a CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) system reagent and an enzymatic precipitation system reagent. The kit combines an SPR biosensor, a DNA origami technology, a CRISPR technology and an enzymatic precipitation system, can realize quantitative measurement of nucleic acid, and has extremely high sensitivity. Results of the embodiment show that the kit can realize automatic, high-throughput and high-sensitivity sample detection.
Owner:HUBEI UNIV OF CHINESE MEDICINE

Embryo gene detection and analysis system for data storage

The invention relates to the technical field of bioinformatics, in particular to an embryo gene detection and analysis system for data storage. Comprising a signal standardization unit, a data preprocessing unit, a storage optimization unit, a machine learning analysis unit, an intelligent report unit and a safety calculation unit. Through intelligent segmentation, parallel computing and SIMD optimization of the data preprocessing unit, the processing efficiency and quality of original sequencing signals are greatly improved, and meanwhile, the machine learning analysis unit utilizes a generative adversarial network and auto-encoder fusion model, a transfer learning and meta-learning strategy and a multi-modal fusion technology; the deep mining of gene data features, the improvement of model generalization ability and the effective integration of multi-source data are realized, so that the embryo health is accurately evaluated, the disease prediction accuracy is improved, and the accuracy, robustness and clinical application value of the system are remarkably enhanced.
Owner:HENAN AGRICULTURAL UNIVERSITY +1

New use of gpr18 in combination with other gene detection agents and depression detection reagent

The application belongs to the field of biochemical detection, and specifically discloses a new use of a GPR18 and other gene detection agent combination and a depression detection reagent. The application of the GPR18 expression level detection agent in the preparation of a major depressive disorder detection product. The expression amount of GPR18, PDK4, NRG1 and EPHB2 in the application actually has high diagnostic efficiency, and can be used as an independent candidate diagnostic biomarker. The accuracy of each as a screening indicator reaches 0.6 to 0.8, reaching the standard of a medium-strength screening indicator, and the accuracy of the combined expression amount indicator as a screening indicator reaches 0.779.
Owner:WUHAN CHILDRENS HOSPITAL

Method and gene detection panel for evaluating treatment response, recurrence and survival by detecting genetic variants and their changes before and after concurrent chemoradiotherapy in tumor tissues of patients with esophageal cancer

PendingUS20250197947A1Microbiological testing/measurementDisease diagnosisStage I Esophageal Squamous Cell CarcinomaOncology
The present disclosure provides a method and a gene detection panel for evaluating treatment response, recurrence and survival by detecting genetic variants and their changes before and after concurrent chemoradiotherapy in tumor tissues of patients with esophageal cancer. The present disclosure develops a set of esophageal cancer NGS analysis panel. Aiming at 402 mutation sites including 35 genes that frequently occur in esophageal squamous cell carcinoma tissue cells, 62 pairs of esophageal squamous cell carcinoma tissues before and after CCRT are analyzed for specific site variation, hoping to find new predictive markers. The present disclosure combines these potential markers into an esophageal cancer detection panel, which has extremely high value for improving the prognosis of esophageal cancer.
Owner:LIHPAO LIFE SCI CORP

Digital PCR (polymerase chain reaction)-based method for detecting residual DNA (deoxyribonucleic acid) of multiple host cells

The invention belongs to the technical field of gene detection of cross fusion of biology and a new generation of information technology, and particularly relates to a method for detecting residual DNA of multiple host cells based on digital PCR (Polymerase Chain Reaction). The invention discloses a multiplex digital PCR quantitative detection primer pair and a probe group for detecting residual DNA of CHO cells, Vero cells, pichia pastoris, escherichia coli and NS0 cells for the first time. By utilizing the method, not only can the residual DNA of five host cells be simultaneously subjected to single or multiple detection in a single reaction, but also non-specific amplification, signal interference and detection limitation of the residual DNA of the host cells in the qPCR detection process can be solved friendly, and meanwhile, the original concentration of a sample is absolutely quantified by the method; the method does not depend on the establishment of a standard curve, reduces the influence caused by a standard product, and is superior to the prior art.
Owner:INST OF MEDICAL BIOLOGY CHINESE ACAD OF MEDICAL SCI

Detection kit for combined methylmalonic acidmia

PendingCN120683245AMicrobiological testing/measurementDNA/RNA fragmentationHomocystinemiaMMACHC
The invention relates to a detection kit for combined methylmalonemia, which is a cb1C type kit and comprises a specific primer pair and a probe combination for detecting at least one mutation site of MMACHC, the mutation site is selected from c.609Ggt; a is c.567 dupT, c.658660delAAG, c.482Ggt, and c.482Ggt; a, c.1Agt; g, c, 80Agt; g, c, 217Cgt; 315Cgt, T, c.315Cgt; g and c.394 Cgt; t). The MMACHC gene hotspot mutation region detection kit based on the real-time fluorescent quantitative PCR technology can detect multiple mutation sites on the MMACHC gene at the same time, detection of three genotypes of wild type, homozygous mutant type and heterozygous mutant type on each mutation site is completed, the gene detection requirements of clinical combined type MMA are effectively met, the detection time is shortened, and the detection efficiency is improved. The mutation site coverage rate of CblC defective methylmalonic acidmia combined with homocysteinemia on the MMACHC gene is increased to 93.28%, mutation hot spots of most people are covered, and various types of mutation conditions in hot spot mutation areas can be rapidly, accurately and sensitively detected.
Owner:SHENZHEN CHILDRENS HOSPITAL +1

CFTR gene mutation combination, amplification reagent and application of product in preparation of CF risk assessment product

The invention belongs to the technical field of gene detection, and particularly relates to application of a CFTR gene mutation combination, an amplification reagent and a product in preparation of a CF risk assessment product. The CFTR gene mutation combination consists of an intron region mutation combination and an exon region mutation combination, based on the CFTR gene mutation combination, the invention further develops an amplification reagent and a CFTR gene mutation detection product, the amplification reagent and the CFTR gene mutation detection product comprise a primer combination for multiplex PCR amplification of the CFTR gene mutation combination, and the primer combination has the characteristics of high accuracy, high specificity and high sensitivity, can accurately detect related gene mutation, and provides a reliable basis for risk assessment and diagnosis of CF. When the amplification reagent and the CFTR gene mutation detection product are combined with sweat chlorine detection for use, the diagnosis rate of CF can be remarkably improved, and the amplification reagent has important application value in clinical diagnosis of CF and is expected to provide more powerful support for early diagnosis and treatment of CF patients.
Owner:SHANGHAI TONGJI HOSPITAL

Reagent and kit for identifying respiratory pathogens and detecting drug resistance and toxicity of respiratory pathogens based on single molecule sequencing method and application of reagent and kit

The invention relates to the technical field of molecular biological detection, and particularly provides a reagent for respiratory tract infection pathogen identification and drug resistance and virulence gene detection. Each primer in the plurality of primers comprises a first sequence as shown in SEQ ID NO: 1-165 and an optional second sequence for distinguishing sample sources. Target spots detected by the super-multiplex primer combination comprehensively cover pathogen directories (totally 353 types) of latest respiratory tract infection diagnosis guidelines at home and abroad, low-cost, high-sensitivity, high-specificity and high-flux detection is achieved, and clinical medication can be effectively and comprehensively guided.
Owner:BEIJING HUADA BIO & INFORMATION FUSION TECHNOLOGY RESEARCH CO LTD

Primer group, kit and method for detecting ATXN3 gene (CAG) n trinucleotide repetition number

The invention relates to a primer group, a kit and a method for detecting an ATXN3 gene (CAG) n trinucleotide repetition number, and belongs to the technical field of gene detection. The technical problem to be solved by the invention is to provide the primer group for detecting the n trinucleotide repetition number of the ATXN3 gene (CAG). The primer group comprises a first primer pair and a second primer pair, a forward primer sequence of the first primer pair is as shown in SEQ ID NO. 1, and a reverse primer sequence of the first primer pair is as shown in SEQ ID NO. 2; a forward primer sequence of the second primer pair is as shown in SEQ ID NO. 3, and a reverse primer sequence of the second primer pair is as shown in SEQ ID NO. 4. Through the design of the two pairs of primers, complementary verification is achieved, the detection result is comprehensive and reliable, the technical defects of first-generation sequencing and second-generation sequencing on long-fragment and high-GC-content repetitive sequence detection are overcome, the detection cost is low, the detection period is short, and the primer pair is suitable for clinical detection service.
Owner:THE WEST CHINA SECOND UNIV HOSPITAL OF SICHUAN

Mycobacterium tuberculosis drug resistance gene detection data analysis system

The invention relates to the technical field of gene detection, and discloses a mycobacterium tuberculosis drug resistance gene detection data analysis system which comprises a data import module, a signal correction module, a feature extraction module, a multi-stage interpretation module, a result fusion module and a report generation module. The system performs baseline drift correction, abnormal point detection and nonlinear normalization on a fluorescence intensity value output by a detector, extracts multi-dimensional features such as peak intensity, a mutation ratio, a consistency coefficient and an in-batch difference index, and constructs a dynamic threshold function to realize wild type and mutation type layered judgment. A drug resistance risk conclusion is generated through drug resistance characteristic matrix mapping, a standardized detection report is output, and intelligent analysis of a detection result and automatic report generation are achieved. Through multi-stage signal correction, multi-dimensional feature extraction and dynamic threshold interpretation, intelligent analysis and standardized report output of a mycobacterium tuberculosis drug resistance gene detection result are realized, and data judgment accuracy and clinical application efficiency are improved.
Owner:HISLAND (SHANGHAI) BIOTECHNOLOGY CO LTD