38 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 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 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 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.

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 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.

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 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 invention discloses a targeted senile degenerative bone disease key lesion regulation factor mRNA therapy recommendation evaluation model method, and the model comprises a data input layer which receives bone disease genetic association and regulation data, including GWAS summary data, space transcriptome and single cell transcriptome data; the intervention target priority ordering module is used for integrating the obtained genetic evidence, regulation evidence and network evidence and carrying out priority ordering on intervention targets; and the intervention target identification network module is used for predicting a key intervention target according to an intervention target network generated by acquiring a gene interaction relationship from the pathway, and obtaining a potential mRNA intervention therapy. The genetic evidence comprises a genetic risk site set annotated through multi-modal regulation genomics data; the regulation evidence comprises functional genomics data related to diseases; the network evidence comprises a high-credibility protein interaction relationship. And the intervention target identification network module is used for analyzing an intervention target network and further comprises disturbance removal analysis and regulation and control hierarchy analysis.

The invention discloses an information processing method and device for evaluating and predicting genetic risks, equipment and a medium, and relates to the technical field of information processing, and the method comprises the steps: receiving to-be-predicted genotype data of a to-be-predicted user, and inputting the to-be-predicted genotype data into a preset genetic risk evaluation model; calculating the to-be-predicted genotype data through a preset genetic risk assessment model to output a target comprehensive risk score; the genetic risk assessment model is a machine learning model which learns an association relationship between genetic effects of a plurality of target traits and target state risks; and according to the target comprehensive risk score, generating a genetic risk prediction result including a genetic risk level, a risk screening initial age suggestion for the to-be-predicted user, and a combined risk prompt fused with a clinical risk assessment result. An output genetic risk prediction result directly comprises a comprehensive prediction result of a risk level, a screening initial age and a combined risk prompt, and genetic information is mapped into a specific clinical action.

The application provides a complex disease genetic risk assessment model construction method, comprising the following steps: S1, collecting research samples, wherein the research samples comprise patient samples and healthy person samples; S2, genome sequencing and data processing, comprising whole genome sequencing and mutation site analysis, mutation site annotation, and identification of rare genetic variations having a destructive impact on protein function; S3, statistical analysis, obtaining characteristic genes significantly related to whether a complex disease is suffered from; and S4, constructing a complex disease genetic risk assessment model. The application aims at the clinical diagnosis problem of complex diseases, and proposes a risk assessment strategy combining clinical experience and statistical inference for complex diseases with scarce data; the optimal risk assessment model is tested by using completely independent sporadic population data, and the generalization and application prospect of the complex disease risk assessment strategy are verified.

The invention provides a drug treatment prognosis risk score for ejection fraction reduction type and intermediate type heart failure and application thereof, and particularly relates to a multi-gene genetic risk score for influence of beta-receptor blockers on ejection fraction reduction type and intermediate type heart failure prognosis and application thereof. According to the method, ejection fraction reduction type and intermediate type heart failure drug treatment prognosis risk PRS scores are established on the basis of polygene single nucleotide polymorphic sites, and ejection fraction reduction type and intermediate type heart failure people sensitive to beta-receptor blockers can be well recognized.

The present application relates to the field of medical diagnosis, and specifically provides a risk assessment model for venous thromboembolism (VTE) of Chinese population and application thereof. The model is based on the genetic characteristics of Chinese population, and contains 15 genetic variables (SNPs) related to the pathophysiological mechanism of VTE, covering five aspects of anticoagulation system, coagulation system, fibrinolysis system, platelet system and vascular endothelial system. The model assesses the genetic risk of VTE of patients by calculating VTE-PRS-15 value, and determines the comprehensive risk grade of patients in combination with Caprini clinical assessment scale. The present application also provides a corresponding genetic polymorphism detection kit. According to clinical data verification, the model improves the accuracy and practicability of VTE risk assessment.

This invention provides a probe library and kit for detecting genetic risk gene mutations in viral infections, belonging to the field of gene detection technology. The probe library and kit designed in this invention achieve, for the first time, the simultaneous detection of all mutations in the following 51 genetic risk genes for viral infections: CARMIL2, CCL2, CD27, CD70, CIB1, CTPS1, CXCR4, CYBC1(C17orf62), DBR1, FCGR3A, FCHO1, ICAM1, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IL10, IL10RA, IL10RB, IL... The probe library and kit of this invention contain 18BP, IRF3, IRF7, IRF9, MAGT1, LIG1, MCM2, NOS2, OAS1, POLR3A, POLR3C, POLR3F, PRKCD, RASGRP1, SH2D1A, STAT1, STAT2, TBK1, TICAM1, TLR3, TLR7, TLR8, TMC6, TMC8, TNFRSF9, TRAF1, TRAF2, TRAF3, TYK2, UNC93B1, and XIAP. This invention's probe library and kit can be used for detecting genetic variations in the risk of viral infection in clinical settings, assessing an individual's genetic risk of viral infection, and has broad application prospects.

The invention discloses a construction method and application of a colorectal cancer multi-gene genetic risk assessment model. A Chinese population colorectal cancer multi-gene genetic risk prediction model is constructed based on colorectal cancer related genetic susceptibility sites by utilizing resources such as large-scale prospective queue research and population-based screening random control tests. The model can predict colorectal cancer onset risks of people with different risk degrees, a risk layering scheme is determined on the basis of the colorectal cancer onset risks, a set of grading screening scheme with high popularization and application value is formed by combining a mature colorectal cancer screening technology, and a new strategy is provided for colorectal cancer risk grading.

A method for disease risk assessment using multiple data sources, and a computer program for implementing the same. The present invention relates to a method for improving the accuracy of early cancer detection by a priori identifying a PRS and then combining it with biomarkers to improve accuracy. The method comprises the following steps: i) calculating an individual's genetic risk, including a polygenic risk score (PRS); ii) measuring biomarkers (including proteins and metabolites); and iii) (optionally) updating the calculated risk to take into account additional clinical variables, including age, sex, and history of infectious diseases or environmental exposures (e.g., smoking).