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334 results about "Disease gene" patented technology
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A Genetic Disease is a type of disease individuals inherit genetically normally at birth. They develop and are caused by the abnormality in genes. Genetic Diseases are normally passed down from parents or other past generations through their genes and DNA. In the nucleus of cells DNA is present. When cells devide chromosomes are created.
Variant annotation, analysis and selection tool
Disclosed are methods for detecting and / or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.
Owner:UNIV OF UTAH RES FOUND +1
Methods and Systems for Diagnosis, Prognosis and Selection of Treatment of Leukemia
InactiveUS20080280774A1Efficient analysisMicrobiological testing/measurementLibrary screeningDisease freeLeukemia
The present invention provides methods, systems and equipment for the prognosis, diagnosis and selection of treatment of AML or other types of leukemia. Genes prognostic of clinical outcome of leukemia patients can be identified according to the present invention. Leukemia disease genes can also be identified according to the present invention. These genes are differentially expressed in PBMCs of AML patients relative to disease-free humans. These genes can be used for the diagnosis or monitoring the development, progression or treatment of AML.
Owner:WYETH LLC
Drug repositioning method based on multi-information fusion and random walk model
ActiveCN107506591AEfficient miningTake advantage ofMolecular designSpecial data processing applicationsData setHeterogeneous network
The invention discloses a drug repositioning method based on multi-information fusion and a random walk model. According to the method, disease-target-drug heterogeneous network is constructed through integrating existing disease data, drug data, target data, disease-drug associated data, disease-gene associated data and drug-target associated data; the basic random walk model is extended to the constructed heterogeneous network; and candidate therapeutic drugs are recommended for diseases through effectively utilizing global network information. The method disclosed by the invention is simple and effective; and compared with other methods and proved by tests on a standard data set, the method has good prediction performance in the aspect of drug repositioning.
Owner:CENT SOUTH UNIV
Disease risk predication method and disease risk predication system
InactiveCN106202936AReduce disease riskKnow Your RisksMedical simulationForecastingDisease riskSusceptibility gene
The invention relates to a disease risk predication method and system. The method comprises the following steps of: S1, receiving input gene sequencing result information; analyzing the input gene sequencing result information to obtain all mutant gene information; S2, looking up disease gene mutant information of corresponding gene sites from a precision medical knowledge base according to the gene sites corresponding to the mutant gene information, so as to obtain at least one piece of disease gene mutant information; S3, matching each piece of the disease gene mutant information with all the disease gene mutant information to obtain the similarity of each piece of the mutant gene information, and all the disease gene mutant information; and S4, obtaining a risk predication table aiming at the gene sequencing result information according to the similarity of each piece of the mutant gene information, and all the disease gene mutant information. By analyzing an association relation of susceptibility genes, mutation sites, mutation types and diseases, disease risk predication is carried out on healthy people and general disease risk grade predication is provided; disease risks in the future are reduced.
Owner:为朔医学数据科技(北京)有限公司
Method for producing a population of homozygous stem cells having a pre-selected immunotype and/or genotype, cells suitable for transplant derived therefrom, and materials and methods using same
InactiveUS7030292B2Reduce demandThe implementation process is simpleBiocideGenetic material ingredientsInjury causeHla haplotypes
A method of producing a homogenous population of homozygous stem (HS) cells pre-selected for immunotype and / or genotype from donor cells is described herein. The invention relates to methods of using immunohistocompatible HS cells for diagnosis, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, traumatic injuries and cancer. The invention further relates to methods for using histocompatible HS stem cells pre-selected for a non-disease genotype for prophylactic and therapeutic intervention including, but not limited to, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, and cancer. Furthermore, the invention relates to a catalogued transplant depository of HS cells derived from multiple donors, each of the HS cells being homozygous for a unique HLA haplotype, for the purpose of having a constant, reliable, comprehensive supply of immunohistocompatible cells for diagnosis, treatment and / or transplantation.
Owner:STEMRON
Nervous system genetic disease gene united screening method, kit and preparation method thereof
The invention provides a nervous system genetic disease gene united screening method, a kit and a preparation method thereof. The gene screening method includes: firstly constructing a whole-genome DNA library construction of a subject, then capturing a target gene sequence with the prepared nervous system genetic disease gene screening kit, then detecting the sample through a double-end 150bp sequencing mode of a high-throughput sequencing platform (Illumina HiSeq 3000), performing bioinformatic analysis of the data result, and finding out mutation information sites of genes related to nervous system genetic diseases so as to reach the genetic diagnosis purpose. The method provided by the invention can rapidly and accurately cover the exon regions of all nervous system genetic disease genes known at present.
Owner:GENERGY BIO TECH SHANGHAI CO LTD
Human idiopathic basal ganglia calcification disease-causing gene and coding protein thereof
InactiveCN102888406AAccurate diagnosisReduce absorptionMicrobiological testing/measurementFermentationProtein insertionDrug target
The invention provides a variant human SLC20A2 gene and discloses that the variant human SLC20A2 gene is idiopathic basal ganglia calcification disease-causing gene. By utilizing the variant human SLC20A2 gene, diagnosis and risk evaluation can be carried out on idiopathic basal ganglia calcification disease. The invention also provides a protein coded by the variant human SLC20A2 gene, and the protein can be taken as a drug target for treating basal ganglia calcification. Besides, the invention also provides a kit used for diagnosing the idiopathic basal ganglia calcification disease and an application of the variant human SLC20A2 gene in preparation of a human idiopathic basal ganglia calcification disease gene diagnosis chip.
Owner:WUHAN TOAZHI LIFE TECH
Method for detecting off-target effect of adenine base editor system based on whole genome sequencing, and its application in gene editing
PendingCN109295186AAccelerate cultivationMicrobiological testing/measurementAgainst vector-borne diseasesGenome editingWhole genome sequencing
The invention provides a method for detecting the off-target effect of an adenine base editor system based on whole genome sequencing, and its application in gene editing, The adenine base editor system comprises a TadA:TadA*:Cas9 fusion gene and gRNA. The system can catalyze the efficient replacement of adenine (A) at a target site with guanine (G), and has a broad application prospect in human disease gene editing therapy and disease model construction. The first method for detecting the off-target effect of the ABE system in a whole genome range, called EndoV-seq method for short, is developed in the invention. The EndoV-seq method provided by the invention has a broad application prospect in the field of gene editing, especially gene editing therapy.
Owner:SUN YAT SEN UNIV
Screening method of inherited metabolic disorder gene
InactiveCN103305618AAccurate diagnosisReduce harmMicrobiological testing/measurementScreening methodGenomic library
The invention provides a screening method of all inherited metabolic disorder genes for genetic diagnosis within an exon area, which is fast and accurate and can cover the newest inherited metabolic disorder genes. The method provided by the invention comprises the following steps of: drawing 3-5ml of blood from an individual, extracting 3-5 microgrammes of DNA (Deoxyribonucleic Acid) from the blood, interrupting and amplifying the DNA to construct a whole genome library for the patient, capturing the virulence genes by using an inherited metabolic disorder gene scanning kit provided by the invention, carrying out high-throughput sequencing by using a sequencing machine, and analyzing and finding mutation information relevant to the genes so as to obtain the mutation conditions of the inherited metabolic disorder genes of the individual to reach the purpose of accurate genetic diagnosis. Dozens of to thousands of genes and millions of loci can be captured and detected once by taking advantage of the high-throughput sequencing, and the screening method covers known 700 inherited metabolic disorders.
Owner:北京迈基诺基因科技股份有限公司
Method for comprehensively analyzing gene sub-graph similarity probability current by use of multiple image detection technologies
ActiveCN106295124AAccurate detectionHigh-precision detectionCharacter and pattern recognitionSequence analysisDisease riskHuman body
The invention relates to the technical field of image detection and processing, simultaneously relates to the field of bioinformatics, and in particular relates to a method for comprehensively analyzing gene sub-graph similarity probability current by use of multiple image detection technologies. The method comprises the following steps: A, data preparation of a human body gene sequence total graph and a target gene sub-graph; B, detecting the gene sub-graph similarity probability current by use of a CNN (Convolutional Neural Network); C, detecting the gene sub-graph similarity probability current by use of HOG+SVM classification; D, detecting the gene sub-graph similarity probability current by use of Adaboost+LBP feature algorithm; E, detecting the gene sub-graph similarity probability current by use of a standard correlation coefficient template matching method; F, comprehensively analyzing the probability current respectively obtained in the step B, step C, step D and step E by use of a BP neural network classifier to obtain the final probability current after the weighted summation. The method disclosed by the invention can be applied to disease gene detection and capable of fast and accurately detecting whether the human body gene sequence contains the disease susceptibility gene and predicting the disease risk of the body.
Owner:广州麦仑信息科技有限公司
Targeting-based new generation sequencing deafness gene detection set and kit, and detection method
InactiveCN106399504AWide coverageImprove throughputMicrobiological testing/measurementDNA/RNA fragmentationData informationTest sample
The invention discloses a targeting-based new generation sequencing deafness gene detection set and kit, and a detection method. The deafness gene detection set comprises 258 genes, 81 non CDS regions and a whole mitochondrial group. The detection method comprises the steps: designing primers for a part of or all of deafness disease genes and loci; with a to-be-tested sample DNA as a template, carrying out PCR amplification with the primers, and constructing a deafness detection gene library based on the amplified product; and according to the deafness detection gene library, establishing a sequencing template, carrying out high-throughput sequencing, and analyzing sequencing data information. The invention also discloses the related kit. Not only can conventional known mutations be detected out, but also new mutation types also can be detected out; in addition, sequencing and analysis of a large number of objective regions also can be completed within a short period of time, and positions, possible to generate pathogenic mutation, of all exons and regulatory regions of the hundreds of genes associated with deafness are subjected to related sequencing and analyzing.
Owner:SUZHOU BASECARE MEDICAL DEVICE CO LTD
Methods and apparatuses for diagnosing AML and MDS
InactiveUS20070198198A1Microbiological testing/measurementBiological testingBone marrow cellDisease free
Owner:WYETH LLC
Methods and apparatuses for diagnosing AML and MDS
InactiveUS20050202451A1Microbiological testing/measurementBiological testingBone marrow cellOncology
Methods, systems and equipment for diagnosing or monitoring the progression or treatment of AML or MDS. This invention identifies a plurality of AML or MDS disease genes which are differentially expressed in bone marrow cells of AML or MDS patients as compared to disease-free humans. These AML or MDS disease genes can be used as molecular markers for detecting the presence or absence of AML or MDS. These genes can also be used for the early identification of MDS patients who eventually progress to AML.
Owner:WYETH LLC
Identification method for genetic disease-related gene
The invention relates to an identification method for a genetic disease-related gene, comprising the following steps: 1) obtaining a sample of DNA in genetic disease gene family; 2) carrying out preliminary positioning of chromosomes of related genes; 3) optionally, further carrying out accurate positioning and haplotype analysis of the chromosomes of the related genes; 4) according to chromosomal localization results, taking a certain amount of DNA samples and identifying the related genes with the technology of human genome exome sequencing. The invention also relates to an identification method for related genes of hereditary spinocerebellar ataxia and a kit for the analysis of the related genes of hereditary spinocerebellar ataxia.
Owner:BGI SHENZHEN CO LTD +1
Drug combination synergistic effect determination method based on gene network
Disclosed is a method for determining the drug combination synergistic effect of two drugs related to a disease according to gene network and drug effective gene; the method includes that: the synergistic factors (ST1, 2) of the two drugs are determined; the drug similarity factors (AS1, 2) of the two drugs are determined; the drug combination synergistic effect of the two drugs is determined according to the product of the synergistic factors and the similarity factors. The invention can construct the disease gene network according to specific disease under research, and maps the gene of each drug effect or gene product to the network for quantitatively measuring the synergy degree of the drugs, and has the advantages of high speed, low cost and accurate results.
Owner:TSINGHUA UNIV
Primers for detecting plurality of newborn inherited metabolic disease causing genes and kit
ActiveCN105177160AQuick screeningConducive to screeningMicrobiological testing/measurementDNA/RNA fragmentationBiotechnologyExon intron
The invention discloses a design way of primers for in-vitro qualitative detection of newborn inherited metabolic disease genes. The design way comprises the following steps: (1) acquiring relevant disease-causing gene information of inherited diseases: acquiring the relevant disease-causing gene information, including gene location information and mutation site information of a plurality of inherited diseases through an OMIM (Online Mendelian Inheritance in Man) database, and acquiring exon and intron information of relevant genes from an NCBI (National Center for Biotechnology Information) database according to the obtained gene information; (2) designing primers specific to the relevant genes: designing corresponding specific primers F1 and R1 specific to an exon and an exon-intron combination area of each gene. The invention also discloses the first-round PCR (Polymerase Chain Reaction) primer sequence list of syndromic deafness, a first-round PCR primer list of G6PD genes, and a first-round PCR primer sequence list of SLC12A3 genes. The primers can be used for detecting relevant genes of 22 types of common newborn inherited diseases.
Owner:ZHEJIANG UNIV
Microbial-disease relation prediction method based on similarity and double random walk
InactiveCN107887023AEffective predictionSave manpower and material costsBiostatisticsMedical automated diagnosisMicroorganismPattern recognition
The invention discloses a microbial-disease relation prediction method based on the similarity and the double random walk. According to the method, firstly, the disease function similarity is constructed by utilizing the disease gene relation and the gene function similarity information. Secondly, the disease Gaussian kernel similarity is constructed according to the known microbial disease relation. On the basis of the disease function similarity and the Gaussian kernel similarity, a final similarity of diseases is integrated. The similarity of microorganisms is derived from the Gaussian kernel similarity of the known microbial disease relation. The microorganism similarity information, the disease similarity information and the known microbial disease relation information are integratedinto a double-layer heterogeneous network. In this way, the microbial disease relation prediction is carried out in the heterogeneous network by utilizing the double-random walk method. According to the method, the relation between microbial diseases can be predicted. The method provides a foundation basis for biological experiments. By adopting the method, the manpower and the material cost are saved.
Owner:CENT SOUTH UNIV
Data analysis method for genetic disease gene testing, system thereof and storage medium
ActiveCN109686439AAchieve semi-automatic interpretationImprove work efficiencyHealth-index calculationMedical automated diagnosisSemi automaticAnnotation
The invention discloses a data analysis method for genetic disease gene testing, a system thereof and a storage medium. The method comprises the steps of inputting sample information and sequencing information of a testee; performing bioinformatics analysis on the sequencing data and obtaining an annotation result and a statistics result; performing quality control auditing on a quality index in astatistics result; performing interpretation personnel and flow distribution on a result which passes quality control auditing; determining a variation condition factor pool and performing variationevidence scoring, wherein the variation evidence scoring is used for assisted analysis for a genetic disease variation factor of the testee. The method and the system thereof perform bioinformatics analysis and quality control auditing based on the sequencing data, and performs interpretation personnel and flow distribution based on clinical phenotype information. Furthermore through variation evidence scoring, semi-automatic interpolation is realized and working efficiency is improved. Furthermore, a one-generation verifying primer database can be introduced, thereby greatly saving a primer designing process and reducing resource consumption. The data analysis method, the system thereof and the storage medium can be widely used for genetic disease gene sequencing data analysis and interpretation.
Owner:CAPITALBIO GENOMICS
Method for cultivating rice breeding material with broad spectrum and lasting spike blast resistance
ActiveCN104969855ASimplify the breeding processReduce detection stepsPlant genotype modificationMarker-assisted selectionAgricultural science
The invention discloses a method for cultivating a breeding material with broad spectrum and lasting spike blast resistance, belonging to the technical field of rice molecular breeding. The method is characterized in that with a parent of conventional rice or hybrid rice with large production extension area and excellent comprehensive characters as a recurrent parent, broad-spectrum anti-disease genes, Pigm and Pi54, are polymerized in the breeding material through continuous backcross and convergent cross and with combination of marker-assisted selection; meanwhile, representative strains are selected for performing artificial inoculation identification of spike blast, natural inducedidentification in rice blast serious areas and basic agronomic character evaluation during a total growth period, and an advanced line with excellent spike blast resistance is obtained. The agronomic characters of the advanced line bred through the method are similar to or consistent with those of the recurrent parent, and the broad spectrum and lasting resistance to spike blast is enhanced obviously.
Owner:JIANGSU LIXIAHE REGION AGRI RES INST
Use of hepatitis B virus x protein and encoding gene thereof in preparing medicament for treating cancer of liver
ActiveCN101502642AConvenient treatmentGood effectPeptide/protein ingredientsGenetic material ingredientsDrugLiver cancer
The invention belongs to the field of gene therapy of diseases, relating to application of hepatitis B virus x protein gene (HBx) in preparing medicines for treating liver cancer and complicating diseases coupled with the liver cancer. The invention has the technical proposal to provide the application of the hepatitis B virus x protein gene (HBx) and encoded protein thereof in preparing the medicines for treating liver cancer and complicating diseases coupled with the liver cancer. In the invention, the hepatitis B virus x protein gene is recombined into an adenoviral vector to be used in medicines for treating the liver cancer; furthermore, activating transcription factors which are generally considered as virus promoters in the field are creatively engaged in virus pathogenic HBx protein for preparing medicines for treating the liver cancer and are proved to have good effect by in vitro and in vivo experiments, thus being well capable of treating the liver cancer and liver ascites,a complicating disease thereof and providing a new selection for liver cancer treatment in the field.
Owner:SICHUAN UNIV
Methods and systems for quantifying closeness of two sets of nodes in a network
Network-based relative proximity measures according to the present invention quantify the closeness between any two sets of nodes (e.g., drug targets and disease genes in a biological network, or groups of people in a social network). The proximity takes into account the scale-free nature of real-world networks and corrects for degree-bias (i.e., due to incompleteness or study biases) by incorporating various distance definitions between the two sets of nodes and comparison of these distances to those of randomly selected nodes in the network (i.e., the distance relative to random expectation), therefore improving processing of the network data. In brief, the proximity offers a formal framework to characterize the distance between two sets of nodes in the network with key applications in various domains from network pharmacology (e.g., discovering novel uses for existing drugs) to social sciences (e.g., defining similarity between groups of individuals).
Owner:NORTHEASTERN UNIV
Method for recognizing key regulator in gene co-regulatory network based on linear model
ActiveCN106874704AHigh precisionAccurate identificationBiostatisticsSystems biologyLinear modelGene expression profiling
The invention discloses a method for recognizing a key regulator in a gene co-regulatory network based on a linear model. The gene expression profile data and the gene regulation relation data are utilized to forecast the expression of the known disease gene in the manner of establishing the linear model, so as to complete the recognition for the key regulator in the gene co-regulatory network. The method provided by the invention is simply realized; the key regulator in the gene co-regulatory network can be accurately recognized only according to the gene expression profile data and the gene regulation relation; tests prove that the recognized regulator has an important biological significance and has important theoretical significance and practical value in researching the disease mechanism.
Owner:HUNAN UNIV
P53 biomarkers
ActiveUS20110097389A1Reduce the burden onSmall sizeBiocideLibrary screeningBiologic markerCancer research
Owner:MULTIVIR INC
Method of direct DNA sequencing for screening hepatolenticular degeneration disease gene mutation site through PCR amplification
InactiveCN104830966AThe method is simple and fastIdentify mutation sitesMicrobiological testing/measurementPrenatal diagnosisAtp7b gene
A method of direct DNA sequencing for screening a hepatolenticular degeneration disease gene mutation site through PCR amplification. The invention relates to a method of direct DNA sequencing after the PCR amplification for screening a disease mutation site of ATP7B gene, thereby providing the basis for accurately diagnosis and prenatal diagnosis of the hepatolenticular degeneration disease. The method includes the processes of primer design, genome DNA extraction, PCR amplification, PCR product purification, PCR product sequencing and sequence comparative analysis and the like, wherein the key to decide effectiveness of the method is specificity and sensitivity of the primer. The primer in the invention is strong in specificity and high in sensitivity and is wide in coverage. The method can detect the all 21 exon regions, promoter regions and partial intron regions of the ATP7B gene, and can provide firm foundation of clinical diagnosis application of the hepatolenticular degeneration through genetic detection.
Owner:PEOPLES HOSPITAL OF ZHENGZHOU
InDel molecular marker co-separated with cucumber powdery mildew resistance main effect gene
InactiveCN104152450AExtended cycleIncrease the difficultyMicrobiological testing/measurementDNA/RNA fragmentationAgricultural scienceNucleotide
The invention provides an InDel molecular marker co-separated with cucumber powdery mildew resistance main effect gene, which is named as InDel-MLO1, and is composed of a nucleotide sequence fragment shown in a SEQ ID NO.1 and a nucleotide sequence fragment shown in a SEQ ID NO.2; wherein the nucleotide sequence fragment shown in the SEQ ID NO.1 is co-separated with the anti-disease gene, and the nucleotide sequence fragment shown in the SEQ ID NO.2 is co-separated with the anti-disease gene and susceptible gene. The InDel molecular marker has high stability, can be used for auxiliary screening of powdery mildew resistance individual plant at a cucumber seedling stage in a simple, rapid and high flux mode; According to the SEQ ID NO.5 and the SEQ ID NO.6, difference of resistance candidate gene DNA length is generated due to insertion / deletion mutation, and several pairs of codominance InDel markers can be designed as the powdery mildew resistance screened molecular marker. The InDel molecular marker establishes a base for auxiliary breeding of molecular marker of powdery mildew resistance, and can greatly accelerates the process of cucumber powdery mildew resistance molecule breeding.
Owner:SHANGHAI JIAO TONG UNIV
Hybrid network gene screening method based on gene expression data
The invention relates to the field of genetic diagnosis, and particularly relates to a hybrid network gene screening method based on gene expression data. According to the scheme, by introducing the gene expression data, a hybrid network gene screening method model based on the gene expression data is designed, and specific steps how to construct different networks by the gene expression data are given out; and the gene expression data is utilized to carry out more detailed and deep quantization on diseases and genes and a mutual relationship network between the genes so as to reinforce comprehensive capacity of the entire hybrid model on the aspect of disease gene screening.
Owner:HARBIN INST OF TECH SHENZHEN GRADUATE SCHOOL
Genetic diagnosis reagent for Citrin deficiency disease and application of genetic diagnosis reagent
InactiveCN103421909AStable implementationAvoid pollutionMicrobiological testing/measurementDNA/RNA fragmentationHigh concentrationQuantitative PCR instrument
The invention belongs to the technical field of biological products, and relates to a genetic diagnosis reagent for the Citrin deficiency disease and an application of the genetic diagnosis reagent. The quantitative PCR technology of Taqman MGB probes is used for detecting one or more of nine mutation sites of a Citrin deficiency disease gene SLC25A13, and therefore the majority of pathogenic mutations can be detected. According to the genetic diagnosis reagent for the Citrin deficiency disease, a quantitative PCR instrument and a common PCR reagent can be used; the nine Citrin deficiency disease mutant genetic loci are detected in an amplification mode so that a detection result can be obtained within 3-5 hours; the genetic diagnosis reagent can be used for detecting the Citrin deficiency disease in a single laboratory closed tube provided with the quantitative PCR instrument, thereby avoiding the situation that high concentration samples are contaminated; moreover, the genetic diagnosis reagent can be conveniently produced in a biotechnological company and used for detection in a biomedical detection mechanism, thereby meeting the requirement for industrialization promotion.
Owner:SHANGHAI LANMING BIOTECH CO LTD
Breeding method for multi-resistance hibiscus cannabinus variety
InactiveCN103125369AIncrease resistanceIncrease productionPlant genotype modificationAnimal scienceHibiscus
Owner:FUJIAN AGRI & FORESTRY UNIV
Biomarker for Detecting High-Altitude Adaptation and High-Altitude Pulmonary Edema
InactiveUS20140030709A1Reduce riskSugar derivativesMicrobiological testing/measurementProlyl HydroxylasesBiomarker (petroleum)
Owner:COUNCIL OF SCI & IND RES
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