58 results about "Genetic risk" patented technology

Methods, kits, and systems for assessing the risk of a human subject for developing a cancer, including genetic risk assessment, clinical risk assessment, and combinations of both to improve risk analysis. Technologies utilize, among other things, analyzing a sample of DNA obtained or derived from a subject to detect the genotype for a plurality of test genomic loci.

The invention discloses a joint detection kit for genetic risk genes and medication genes of Alzheimer's disease and a multivariable risk assessment model. The kit comprises a detection reagent for detecting 25 mutation sites of 15 genes, wherein the 25 mutation sites of the 15 genes comprise 17 mutation sites of 10 risk genes and 10 mutation sites of 6 medication genes. Amplification primer pairs and single-base extension primers of each site are designed for 25 mutation sites of 15 genes, multiple PCR amplification and single-base extension reactions are carried out, and the genotype of each site of a product is analyzed by using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. A multivariable risk assessment model for the Alzheimer's disease is constructed by taking a genetic risk score GRS, age, gender and plasma p-tau217 concentration of a risk gene mutation site as markers, one-stop detection of'early screening and medication guidance 'can be realized in combination with a medication gene detection result, and the application prospect and demand are broad.

The invention relates to the technical field of biology, and provides a genetic marker for children nephrotic syndrome genetic risk assessment. The invention relates to genetic detection and application of hormone sensitive nephrotic syndrome (pSSNS) of children. Nine risk sites, including new sites of 1q23.1, 1p36.13, 5p13.2, 10q21.3, 10q24.1 and the like, highly related to diseases are found by integrating whole genome association research (GWAS) data, combining Meta analysis and a conjugate false discovery rate (conjFDR) method and taking genetic information of IgA nephropathy as assistance. Research results show that genes near the loci have differential expression in pSSNS and IgAN patients, which prompts that the genes play an important role in the occurrence and development of diseases. The invention provides a molecular detection method based on the risk site, which can be used for risk assessment, auxiliary diagnosis and prognosis prediction of children's nephropathy. Meanwhile, the invention provides potential application values of the loci and related genes thereof in individualized medication and targeted therapy.

The invention relates to the technical field of disease risk prediction and precision medical treatment, in particular to an establishment method and application of a late-onset psoriasis risk prediction model, and the method comprises the following steps: (1) collecting lifestyle data, serum metabolite data, clinical characteristics and polygene risk scores of a subject; (2) constructing a healthy lifestyle score according to the lifestyle data; (3) screening metabolites significantly related to the healthy lifestyle by using a multiple linear regression model; (4) screening metabolites significantly related to the risk of late psoriasis by using a Cox regression model; (5) screening a key metabolite set by adopting an elastic network regression model; and (6) inputting the sample features into a machine learning model to obtain a late-onset psoriasis risk prediction model. According to the method, the prediction accuracy is high, the AUC can reach 0.86 by combining the lifestyle, serum metabolites and genetic risks, and the method is obviously superior to a prediction method only depending on clinical characteristics or genetic information.

The application discloses a model construction method and equipment for evaluating the risk of occult HBV infection of a subject and application. According to an embodiment of the application, 24 SNP sites in HLA gene regions are obtained by a specific screening method, and the 24 SNP sites are used as molecular markers of occult HBV infection (OBI) and are used for model construction, so that genetic risk evaluation of OBI is realized. Experimental results show that the evaluation index AUC of the application is 0.86, and the application has the characteristics of high specificity, high sensitivity and high accuracy, and can provide more comprehensive, accurate and individualized evaluation for the risk of OBI.

The present invention belongs to the field of genetic risk prediction technology and discloses a method for constructing a genetic risk prediction model integrating functional annotation information and its application, comprising: calculating the heritability of the specific annotations of each cell type corresponding to each tissue of the sample to be tested based on the marginal chi-square statistic of each SNP, and then obtaining the heritability of the j-th SNP in the current tissue f and estimating the joint effect size b of M SNPs in tissue f. f , and based on b f The covariance between the phenotype vector y of the n samples to be tested is b f The optimal linear unbiased estimate of the genetic risk prediction model is then obtained. Furthermore, the genetic risk scores corresponding to each tissue are integrated, and the functional annotation information of each tissue is incorporated into the genetic risk prediction. A genetic risk prediction method integrating functional annotation information is also provided. The present invention can improve the accuracy of genetic risk prediction.

The specification provides a genetic risk feature screening method, a prediction method and a system, and relates to the technical field of medical diagnosis. The method comprises determining a plurality of genetic risk features related to a target variable of a sample and an NT value of the sample; grouping the features by a machine learning model according to the characteristics of the genetic risk features related to the target variable; determining an NT value interval; converting the NT value of the sample into an NT feature value of the sample according to the NT value interval; and screening key features for genetic risk determination by the machine learning model with the NT feature value of the sample and each feature group as input and with the NT feature value of the sample and the plurality of feature groups as input. The combination of the characteristics of the genetic risk features and the feature grouping by the machine learning model can effectively reflect the relationship between the features, effectively screen out key features for accurately predicting genetic risk, assist medical diagnosis, and greatly reduce the cost of diagnosis time.

This application proposes a probe assembly, reagent kit, and their applications for detecting knee osteoarthritis, belonging to the field of biomedical detection technology. It addresses the technical problems of existing methods for detecting the risk or pathogenesis factors of knee osteoarthritis, such as slow speed, low throughput, and high cost. The probe assembly includes 112 probe sequences for detecting 56 target genes. The nucleotide sequences of these 112 probe sequences are shown in SEQ ID NO.1~SEQ ID NO.112, with at least two probe sequences corresponding to each target gene. The 56 target genes include 20 genes related to bone metabolism and cartilage formation, 19 genes related to inflammation, 8 genes related to extracellular matrix, and 9 genes related to drug metabolism and efficacy. This application features high throughput, speed, and accuracy. It can be applied to genetic risk assessment of knee osteoarthritis.

The application provides a probe composition for detecting genetic cardiovascular diseases and application thereof. The probe composition for detecting genetic cardiovascular diseases comprises 21201 probes which are identical or complementary to the sequences between corresponding sites on chromosomes of a human reference genome hg19. The probe composition for detecting genetic cardiovascular diseases can detect coding regions of 122 genes related to genetic cardiovascular diseases and non-coding regions of 29 genes at one time, realize detection of various mutation types of five types of genetic cardiovascular diseases, i.e. cardiac ion channel diseases, genetic cardiomyopathy, genetic aortic diseases, pulmonary arterial hypertension and familial hypercholesterolemia, the detection content has wide coverage, the detection efficiency is high, and therefore the occurrence and genetic risk of genetic cardiovascular diseases can be comprehensively evaluated, which has important significance for early prevention, early intervention and auxiliary diagnosis.

This invention provides a localized differential privacy protection method for medical data. It employs a perturbation algorithm to perturb the data, with the privacy budget set as follows: sensitivity levels are applied to the relevant disease types; based on the sensitivity level, a corresponding privacy budget is set for each disease, where higher sensitivity levels correspond to smaller privacy budget values. This invention assesses disease sensitivity from multiple dimensions, including genetic risk, social discrimination, and treatment costs, achieving differentiated dynamic privacy budget allocation. Smaller values ​​are allocated to highly sensitive diseases to enhance privacy protection, while larger privacy budget values ​​are allocated to less sensitive diseases to reduce data distortion. This solves the problem of insufficient targeted protection caused by fixed privacy budgets in existing methods. Furthermore, the accuracy against background knowledge attacks is significantly lower than 1.2 times that of random guessing, and the privacy protection effect meets the stringent requirements of the formal definition of localized differential privacy.

This invention belongs to the field of myopia prevention and control technology, and relates to a method, device, and medium for myopia prevention and control based on genetic and environmental factors. Based on myopia data of each blood relative of the user to be intervened, the variant sites in the myopia-related single nucleotide polymorphism genotype, and the number of risk alleles, a myopia genetic risk index is calculated. Based on the user's daily outdoor activity time, total daily eye use time, daily near-vision time, and daily low-light eye use time over several consecutive days, an outdoor activity stability index, a near-vision load index, and an eye use light stability index are calculated, thus obtaining an environmental myopia risk index. The axial length, refractive error, myopia genetic risk index, and environmental myopia risk index of the user to be intervened are input into an adaptive Bayesian myopia risk prediction model, which outputs the myopia risk change trajectory under different myopia intervention intensities, including the predicted mean and uncertainty interval, thereby obtaining a myopia intervention strategy.

This invention belongs to the field of SNP site detection technology for guiding the use of second-generation antipsychotic drugs. Specifically, it relates to primer and probe combinations and applications for SNP site detection to guide personalized medication of second-generation antipsychotic drugs. The SNP site is rs17782313. The primer and probe combination includes an upstream primer SEQ ID NO:1 that specifically amplifies the wild-type T allele, an upstream primer SEQ ID NO:2 that specifically amplifies the mutant C allele, a universal downstream primer SEQ ID NO:3, a wild-type probe SEQ ID NO:4, and a mutant probe SEQ ID NO:5. This invention assesses the genetic risk of weight gain and metabolic disorders in patients with mental illness after taking second-generation antipsychotic drugs such as risperidone, quetiapine, amisulpride, and paliperidone through rapid and accurate genotyping. It features high specificity, high accuracy, speed, simplicity, and controllable cost, and can achieve rapid single-tube genotyping, providing key genetic evidence for the clinical development of personalized medication regimens.

The present invention relates to a method of determining whether a subject is at risk of developing type 1 diabetes by determining the genetic risk score (GRS) of a subject. The present invention also comprises a pharmaceutical composition comprising insulin and a pharmaceutical acceptable carrier for use in a method for preventing type 1 diabetes in a subject having a genetic risk score as determined by the method mentioned above. Further, it encompasses a kit for use in a method of determining whether a subject is at risk of developing type 1 diabetes by determining the genetic risk score of a subject and a type 1 diabetes antigen for use in a method of immunizing a subject against type 1 diabetes having a genetic risk score as determined by the method mentioned above.

A computerized system and method are provided for assessing a number of gene-gene interactions between the HLA and IRF5 gene regions. At least one computing device enrolls subjects in a registry, including SLE patients having met classification criteria for SEE and Sjogren's patients having met AECG criteria. Moreover, at least one computing device can perform genotyping for the subjects and healthy control subjects, for submission to a genotyping platform. Further, at least one computing device can develop HLA risk factor models for each of a plurality of stages, and perform statistical analysis for each of the plurality of stages.

A personalized multi-factor genetic risk system for disease prediction and method of use is described herein. The personalized multi-factor genetic risk system is generated by generating a disease specific polygenic score model. Responsive to receiving one or more inputs, wherein the one or more inputs include genomes or partial genomes of an individual, the disease specific polygenic score model generates a lifetime disease likelihood for the individual.

The invention relates to the technical field of treatment of neurodegenerative diseases, in particular to application of USP6NL in regulation of TGM7 protein. The invention relates to an application of USP6NL protein or a coding gene thereof in preparation of medicines for treating AD (Alzheimer's disease). The amino acid sequence of USP6NL is at least one of SEQ ID NO.1-SEQ ID NO.3; the invention relates to an application of a TGM7 protein in preparation of a medicine for treating AD (Alzheimer's disease), an amino acid sequence of the TGM7 is at least one of SEQ ID NO.4-SEQ ID NO.5, an application of a USP6NL protein in promotion of TGM7 secretion and an application of a USP6NL protein in promotion of A beta oligomerization. According to the application of the USP6NL in regulating the TGM7 protein provided by the invention, the previously unknown relation between the USP6NL-TGM7 axis as intracellular transport and extracellular A beta aggregation is disclosed, the USP6NL as a functional genetic risk factor of AD is determined, and the pathway is named as a treatment target which has a prospect and can be used for drug treatment.

The invention relates to a primer group, a kit and a method for detecting a Fabry cardiomyopathy genetic susceptibility gene, and belongs to the technical field of gene detection. The genetic susceptibility gene of the Brie cardiomyopathy is a GLA gene, and the mutation site of the genetic susceptibility gene is c.640-801Ggt; a; the primer group comprises a PCR (Polymerase Chain Reaction) amplification primer group, and the amplification primer group comprises a forward PCR amplification primer and a reverse PCR amplification primer; the primer group further comprises a Sanger sequencing primer group, and the sequencing primer group comprises a forward sequencing primer and a reverse sequencing primer. The invention also provides a kit and a detection method based on the primer group. According to the primer group and the kit containing the primer group, the c.640-801Ggt of the Fabry cardiomyopathy GLA gene can be detected on the basis of a first-generation sequencing technology; a site mutation has important value for early screening detection and genetic risk assessment of the disease gene.

The invention provides a probe combination and a kit for detecting knee osteoarthritis and application of the probe combination and the kit, belongs to the technical field of biological medicine detection, and can solve the technical problems of low speed, relatively low detection flux, high detection cost and the like of the existing knee osteoarthritis risk or pathogenesis factor detection means. The probe combination comprises 112 probe sequences for detecting 56 target genes, the nucleotide sequences of the 112 probe sequences are respectively shown as SEQ ID NO.1-SEQ ID NO.112, and each target gene corresponds to at least two probe sequences; wherein the 56 target genes comprise 20 bone metabolism and cartilage formation related genes, 19 inflammatory response related genes, 8 extracellular matrix related genes and 9 drug metabolism and curative effect related genes. The method has the characteristics of high throughput, rapidness, accuracy and the like. The method can be applied to genetic risk assessment of knee osteoarthritis and the like.

The invention relates to the technical field of pneumoconiosis diagnosis, in particular to a pneumoconiosis polygene genetic risk prediction system. According to the method, genetic variation related to occupational pneumoconiosis susceptibility is deeply studied, a plurality of genetic variation sites highly related to pneumoconiosis onset risks are screened out, and a multi-gene genetic risk scoring model is established in combination with macroscopic factors. The model not only considers the influence of the genetic background on the disease, but also integrates the effects of external environmental factors, thereby providing more comprehensive risk assessment. The system solves the technical problem of lack of a system for accurately predicting the incidence probability of pneumoconiosis in the prior art, and fills the blank in related fields. By inputting personal genetic information and macroscopic factor data, the system can generate personalized risk scores, help doctors and patients to better understand potential health risks and take corresponding prevention measures, and has important public health significance and practical application value.

The invention provides an irritable bowel syndrome risk marker based on genomics. The risk marker comprises the following six pathogenic genes: CADM2, PHF2, PCLO, SHISA6, LRP1B and TANK. According to the invention, not only is the effect of the latest large-scale whole genome association research (GWAS) on the aspect of analyzing the genetic cause of the irritable bowel syndrome shown, but also five new genetic risk variation, potential unreported pathogenic genes and treatment targets of the irritable bowel syndrome are found; a new insight is provided for the cause of the irritable bowel syndrome, and a potential therapeutic intervention target is highlighted. The invention also provides an application based on the risk marker of the irritable bowel syndrome and a corresponding early screening kit.

A method for pre-screening a subject for cancer is disclosed. Genetic risk associated with a gene signature is calculated by sequencing and analyzing cell-free DNA ("cfDNA") fragments present in a subject's blood sample. Clinical risk is calculated based on factors such as age, sex, and race. In some cases, clinical factors specific to a particular cancer, such as smoking status, are also incorporated. Incorporating clinical risk into genomic risk analysis improves lung cancer pre-screening results, enabling the detection of the same number of positive cancers using fewer LDCT lung cancer screening sessions.

The invention discloses a primary prevention method for screening the probability of cardiovascular diseases, and belongs to the technical field of mobile medical treatment. According to the method, physiological, behavior and environment dynamic data of a user are collected through a wearable device and the like, a genetic risk score is introduced, and a machine learning model is utilized to calculate a personalized future illness probability; the core of the method is that a dynamic probability result is automatically associated to a preset stepped intervention knowledge base through a matching rule engine, customized prevention schemes of different levels from life adjustment to medical consultation and the like are generated and pushed in real time, and user compliance data are tracked to form a feedback closed loop. The system correspondingly comprises a data acquisition and fusion module, a risk assessment module, a knowledge base module, an intelligent matching module, an interactive pushing module and the like. According to the method, automatic and personalized closed-loop management from risk screening to intervention starting is realized, and the problem of disjunction between evaluation and action in traditional prevention is effectively solved.

The present application relates to the technical field of molecular diagnosis and genotyping, and particularly relates to a VTE high-risk individual identification multiplex isothermal amplification detection method and a VTE high-risk individual identification multiplex isothermal amplification detection kit, a 4-7 SNP site detection panel containing SERPINC1 antithrombin deficiency variation, PROC protein C defect hotspot (p.Arg189Trp) and at least one SNP site in MTHFR, PAI-1, FGG and ABO is constructed; an allele-specific forward primer pair with a 3' end plus the second or third artificial mismatch double-mismatch anchoring structure, a universal reverse primer and a tetrahydrofuran site probe are designed for each SNP site; a risk stratification result is output by using an OR value weighted scoring model of a Chinese population cohort, the detection is rapid, single-tube multiplex, sample consumption is low, zero-instrument optional, and is suitable for rapid screening of genetic risk of venous thromboembolism in primary medical institutions of Chinese population.

The present disclosure relates to a device and method for predicting the risk of disease occurrence by utilizing single nucleotide polymorphisms and the presence or absence of monogenic variants in a subject. According to the device and method according to an aspect, prediction of the risk of disease occurrence is enabled based on a more accurate genetic risk by integrating together monogenic variants, which are based on the subject's genetic information and have a clear causal relationship but appear rarely, and the polygenic risk score, which is based on commonly occurring single nucleotide polymorphisms that, in comparison, do not have high individual association.

The invention relates to the technical field of biomedicine, in particular to an SNP (Single Nucleotide Polymorphism) marker related to a keratoconus genetic risk, application of the SNP marker and a keratoconus genetic risk assessment system. According to the invention, screening and analysis of SNP sites are carried out on 670 cases of keratoconus patients and 4373 cases of contrast in a training set, and it is found that differences (Plt, Plt, Plt) exist between a keratoconus group and a contrast group; 0.05) of the molecular marker. The method comprises the following steps of: training a cornea conus multi-gene genetic risk scoring model, selecting the loci to construct a PRS model, constructing the cornea conus multi-gene genetic risk scoring model according to the effect values of different loci in a training set, and obtaining the SNP marker related to the cornea conus genetic risk by selecting 79 loci in the optimal model. The SNP marker provided by the invention can be used for evaluating the genetic risk of the keratoconus, has relatively high accuracy and sensitivity, and is beneficial to primary prevention of the keratoconus.

The invention provides a methylation-related genetic biomarker related to colorectal cancer and application of the methylation-related genetic biomarker, and belongs to the field of genetic engineering and oncology. The colorectal cancer auxiliary diagnosis kit prepared on the basis of the biomarker is helpful for clinicians to quickly master genetic risks of colorectal cancer morbidity, provides reliable support for early screening and taking intervention measures, and has general applicability to Chinese population.

The application provides a detection system for genetic risk assessment of neural tube defects, and relates to the technical field of bioinformatics. The system comprises: obtaining genomic sequencing data of a to-be-detected individual, performing targeted filtering based on a preset NTD-related gene set, and screening out rare pathogenic variants located in the gene set, MAF satisfying a preset frequency threshold, and predicted to have biological pathogenicity; then, the total number of the rare pathogenic variants is counted to obtain a mutation load value, which is compared with a preset determination threshold, and a risk assessment result is output. The application effectively removes the whole genome background noise by limiting the gene set range and quantifying the cumulative effect of rare pathogenic variants, breaks through the limitations of narrow coverage of traditional single gene detection and lag of imaging diagnosis, significantly improves the specificity and sensitivity of neural tube defect diagnosis, and can realize precise risk early warning in early pregnancy or before embryo implantation.

The invention discloses application of a reagent for detecting an AGT gene polymorphic site in a sample, specifically, the application is to prepare a product for diagnosing asthma or predicting an asthma genetic risk, and the reagent is a reagent for detecting an rs4762 site. The AGT gene polymorphic site provided by the invention can be used as an asthma biomarker, can be clinically used for evaluating whether a subject suffers from asthma or predicting the asthma genetic risk of the subject, and has a good application prospect.

This provides a means to accurately and easily determine an individual's genetic predisposition to vascular aging. [Solution] A method for determining the genetic risk of vascular aging, comprising the steps of: detecting alleles of single nucleotide polymorphisms (SNPs) at the 51st base of one or more sequences identified in (A) to (E) below from a DNA-containing sample taken from a subject; and determining that the subject is prone to developing symptoms related to vascular aging if the detected allele's base is a risk allele. (A)SNP:ID rs17108108 (B)SNP:ID rs2271987 (C)SNP:ID rs6470860 (D)SNP:ID rs2284972 (E)SNP:ID rs12028323

The application provides a probe composition for detecting genetic cardiogenic sudden death and application thereof. The probe composition for detecting genetic cardiogenic sudden death comprises 20388 probes which are identical or complementary to the sequences between the corresponding sites on the chromosomes of the human reference genome hg19. The probe composition for detecting genetic cardiogenic sudden death can detect the coding regions of 99 genes related to genetic cardiogenic sudden death and the non-coding regions of 29 genes at one time, realize the detection of various mutation types of genetic cardiogenic sudden death such as cardiac ion channel disease, cardiomyopathy, genetic aortic disease and the like, the detection content has wide coverage, the detection efficiency is high, and therefore the occurrence and genetic risk of genetic cardiogenic sudden death can be comprehensively evaluated, which has important significance for early prevention, early intervention and auxiliary diagnosis.