136 results about "Genetic risk" patented technology

The invention provides methods for determining genome-wide sequence variations associated with a phenotype of a species in a hypothesis-free manner. In the methods of the invention, a set of restriction fragments for each of a sub-population of individuals having the phenotype are generated by digesting nucleic acids from the individual using one or more different restriction enzymes. A set of restriction sequence tags for the individual is then determined from the set of restriction fragments. The restriction sequence tags for the sub-population of organisms are compared and grouped into one or more groups, each of which comprising restriction sequence tags that comprise homologous sequences. The obtained one or more groups of restriction sequence tags identify the sequence variations associated with the phenotype. The methods of the invention can be used for, e.g., analysis of large numbers of sequence variants in many patient samples to identify subtle genetic risk factors.

The present disclosure provides methods and systems for incorporating multiple environmental and genetic risk factors into an individual's genomic profile. Methods include assessing the association between an individual's genotype and at least one disease or condition by incorporating multiple genetic risk factors, environmental risk factors, or a combination of both.

A patient is diagnosed and a regimen of treatment is prescribed in a system which tests the patients, receives test results from a patient, including DNA test results. A database of human genome data correlating human health disorder with DNA genetic tests is accessed. A database of environmental factors which correlate known human health disorders with environmental conditions is accessed. Risk factors including genetic risk and environmental risk are developed, and from these, a composite risk factor is developed. This is used to access a database of prescribed drug therapy.

In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.

Methods and compositions are provided for evaluating an individual for relative genetic risk for autism, for identifying a form of a genetic polymorphism that is linked to autism, and for evaluating whether a compound affects autism.

PCT No. PCT / GB96 / 01707 Sec. 371 Date Feb. 26, 1998 Sec. 102(e) Date Feb. 26, 1998 PCT Filed Jul. 17, 1996 PCT Pub. No. WO97 / 04004 PCT Pub. Date Feb. 6, 1997The invention provides compounds for use in the treatment of allergic diseases including juvenile asthma and eczema. The compounds can inhibit IgE mediated reaction to major environmental and occupational allergens and can also have a prophylactic effect against allergic disease by preventing allergic sensitization to environmental and occupational allergens when administered to at-risk individuals (e.g., those at genetic risk of asthma and those exposed to occupational allergens in the workplace). The compounds are also useful for inactivation or attenuation of the allergenicity of allergens in situ. The invention provides compounds and ligands per se, pharmaceutical compositions containing the compounds, processes for producing the compounds and pharmaceutical compositions, and methods for using the compounds and compositions in treatment or prophylaxis of IgE mediated allergic diseases and in inactivation or attenuation of allergens in situ. The invention also enables the reduction or destruction of the viability of allergy-causing organisms.

The LSAMP gene can be used for cardiovascular disease risk assessment, in particular Left Main Disease. The genetic risk attributable to LSAMP adds to known cardiovascular disease risk factors. Assessment of risk attributable to LSAMP permits early initiation of preventive and therapeutic strategies. Given the pronounced clinical risk associated with Left Main Disease, such risk assessment should significantly reduce morbidity and mortality.

The invention relates to a method for performing multi-gene disease inheritance risk comprehensive assessment to an individual. The method comprises the following steps that: inheritance risk factors of a special multi-gene disease in a special crowd are screened; the risk degree of each risk factor to the special multi-gene disease is determined; and resources such as NCBI, HapMap databases and so on, are utilized to determine the frequencies of gene types of polymorphic gene type loci in the special crowd. The method is characterized in that: an assessment model is established, and the risk rank of the multi-gene disease of the individual is assessed from the genetic angle. The method is a comprehensive, objective, easily-operated, and intellectualized risk assessment method.

The present invention relates to methods of predicting susceptibility to a severe form of Crohn's disease in an individual by determining the presence or absence of one or more risk variants. In one embodiment, the risk variants comprise a combination of genetic risk variants and clinical risk factors. In another embodiment, the genetic risk variants are at the IL12B genetic locus. In another embodiment, the severe form of Crohn's disease is characterized by a rapid progression to a condition requiring surgery for treatment.

The invention provides methods for determining genome-wide sequence variations associated with a phenotype of a species in a hypothesis-free manner. In the methods of the invention, a set of restriction fragments for each of a sub-population of individuals having the phenotype are generated by digesting nucleic acids from the individual using one or more different restriction enzymes. A set of restriction sequence tags for the individual is then determined from the set of restriction fragments. The restriction sequence tags for the sub-population of organisms are compared and grouped into one or more groups, each of which comprising restriction sequence tags that comprise homologous sequences. The obtained one or more groups of restriction sequence tags identify the sequence variations associated with the phenotype. The methods of the invention can be used for, e.g., analysis of large numbers of sequence variants in many patient samples to identify subtle genetic risk factors.

The invention belongs to the field of medical detection, and particularly discloses an improved Alzheimer disease onset risk prediction method. The method puts forward an improved wGRS (Genetic Risk Score) method based on traditional wGRS, the function of single SNP (Single nucleotide polymorphisms) is considered during wGRS calculation, and meanwhile, the mutual function of SNPs is also considered. According to the improved wGRS method, the accuracy of Alzheimer disease onset risk prediction is further improved. Therefore, the method takes the important influence of the mutual function of the SNPs on the Alzheimer disease into consideration, and the mutual function of the SNPs is applied to the Alzheimer disease onset risk prediction to further improve the accuracy of the Alzheimer disease onset risk prediction.

The present invention relates to methods and systems for assessing the overall risk of a human female subject for developing a breast cancer phenotype. In particular, the present invention relates to combining clinical risk assessment and genetic risk assessment to improve risk analysis.

Systems have been devised for health management based upon genetic markers. Specifically, systems are arranged to compute genetic risk for several factors relating to metabolism and weight gain in view of various genotypes at particular markers in an individual's genome. An algorithm which depends upon these risk calculations and in further view of the presence of additional variants in the genome under test is executed to arrive at a diet type selection for the particular user. In additions to diet type selections, specific supporting diet related recommendations related to eating behaviors, food reactions and nutritional needs, based upon markers found in the genetic profile, are additionally included in a diet action plan.

The invention discloses a kit for testing the genetic risk of hypertension. The kit comprises specific primer pairs for testing the single nucleotide polymorphic locus genotypes of an angiotensin converting enzyme gene (ACE), an angiotensin II receptor type1 gene (AGTR1) and an endothelial type nitric oxide synthase gene (NOS3) as well as specific fluorescent probe pairs, fluorescent quantitative PCR regular components, PCR reaction components and the like. The kit estimates the individual genetic risk of hypertension by synchronously testing the polymorphic locus genotypes of the genes closely related to the genetic risk of hypertension.

The present invention relates to a system for predicting an incidence of disease from genetic polymorphism and uses the prediction result to form a personal nutrition complex. The system collects at least one personal information and single nucleotide polymorphism (SNP) information then exchanges the above information with databases including a personal database, a genetic risk database, an allelic frequency database, and a prevalence database. Finally, the system will output a prediction report and indicates a risk of specific disease and a plurality of abnormal genes. According to the prediction results, the system also can provide a plurality of nutritional supplement ingredients to form a personal nutrition complex. Users can receive a comprehensive and an effective nutritional supplement countermeasure about abnormal genes for prevention of the specific disease.

The invention discloses a kit for genetic detection of diabetes. The kit comprises a specific primer pair and a specific probe pair which are used for detecting the mononucleotide polymorphism loci genotype of an adiponection gene (ADIPOQ), an interleukin 6 gene (IL-6), a lipoprotein lipase gene (LPL) and a vitamin D receptor gene (VDR), a fluorescent quantitative PCR general component and the like. The kit can evaluate the genetic risk of individuals suffered from the diabetes by detecting the polymorphism loci genotype of the genes closely related to the genetic risk of the diabetes at the same time.

The invention discloses a next generation sequencing based coronary heart disease genetic risk evaluation method. Particularly, the invention relates to screening of coronary heart disease genetic risk loci and establishment of a coronary heart disease genetic risk evaluation model based on the risk loci. Depending on the model, an individual genome is subjected to targeted sequencing to finally obtain coronary heart disease genetic risk of an individual.

The invention discloses a method for assisting gestation period diabetes genetic risk prediction based on artificial intelligence. The method comprises the following steps of acquiring and integrating patient body examination data and gene testing information, establishing a medical record database of the gestation period diabetes; performing preprocessing on data in the medical record database, namely performing segmenting a training-testing set, screening the medical record and filling vacancy values; extracting characteristics according to an information value and a Bayesian network, and constructing a characteristic set which is related with the gestation period diabetes genetic risk, performing modeling and diagnosis on the medical record data after characteristic screening based on a CatBoost model; searching a parameter value with optimal score by means of Grid Search, and performing cross validation by means of the training set. The method for assisting gestation period diabetes genetic risk prediction based on artificial intelligence can well applied to an actual medical environment according to the gene data and the body examination data, thereby finding out the gestation period diabetes high-risk population, saving expensive intervention time, realizing early intervention and changing a mother-and-fetus result.

The invention provides methods for (a) reducing mortality associated with heart failure; (b) improving oxygen consumption; (c) treating heart failure; (d) treating hypertension; (e) improving the quality of life in a heart failure patient; (f) inhibiting left ventricular remodeling; (g) reducing hospitalizations related to heart failure; (h) improving exercise tolerance; (j) increasing left ventricular ejection fraction; (k) decreasing levels of B-type natriuretic protein; (l) treating renovascular diseases; (m) treating end-stage renal diseases; (n) reducing cardiomegaly; (o) treating diseases resulting from oxidative stress; (p) treating endothelial dysfunctions; (q) treating diseases caused by endothelial dysfunctions; or (r) treating cardiovascular diseases; in a patient in need thereof, wherein the patient has a Arg389Arg polymorphism and / or a Gly389Gly polymorphism in the beta 1 adrenergic receptor gene, comprising administering to the patient (i) at least one antioxidant compound or a pharmaceutically acceptable salt thereof; (ii) at least one nitric oxide enhancing compound; and (iii) optionally the best current therapy for the treatment of cardiovascular diseases. In one embodiment the antioxidant is a hydralazine compound or a pharmaceutically acceptable salt thereof and the nitric oxide enhancing compound is isosorbide dinitrate and / or isosorbide mononitrate.

The invention discloses a kit for genetic detection of colorectal cancer. The kit comprises a specific primer pair and a specific probe pair which are used for detecting the mononucleotide polymorphism loci genotype of a 5,10-methylenetetrahydrofolate reductase gene (MTHFR), a glutathione-s-transferase T1 gene (GSTT1), a glutathione-s-transferase M1 gene (GSTM1), a cytochrome P450 2E1 gene (CYP2E1), and a mismatching repair enzyme gene (hMLH1), a fluorescent quantitative PCR general component, a PCR reaction component and the like. The kit can evaluate the genetic risk of individuals suffered from the colorectal cancer by detecting the polymorphism loci genotype of the genes closely related to the genetic risk of the colorectal cancer at the same time.

The invention discloses a kit for testing the genetic risk of esophageal cancer, which comprises specific premier pairs for testing the single nucleotide polymorphic locus genotypes of a cytochrome P450 1A1 gene (CYP1A1), a cytochrome P450 2E1 gene (CYP2E1), a glutathione-S-transferase M1 gene (GSTM1), a 5,10-methylenetetrahydrofo late reductase gene (MTHFR), a reduction type coenzyme I quinone oxido-reductase gene (NQ01), an oncoprotein 53 gene (P53), an X-ray repair cross-complementing gene 1 (XRCC1) and a xeroderma pigmentosum complementary set A gene (XPA) as well as specific fluorescent probe pairs, fluorescent quantitative PCR regular components, PCR reaction components and the like. The kit of the invention estimates the individual genetic risk of esophageal cancer by synchronously testing the polymorphic locus genotypes of the genes closely related to the genetic risk of esophageal cancer.

The invention relates to a juvenile healthy weight losing method. The invention provides the juvenile healthy weight losing method, which is safe, has no pain, is not easy to rebound, does not affect the normal growth and development of juveniles and is favorable for preventing juvenile diseases such as central obesity, diabetes, coronary heart disease, sexual development disorder and the like related with obesity. The method comprises the following steps of: A, acquiring a DNA sample of an obese juvenile, performing pure obese gene detection, and determining the genetic risk level of the obesity; B, performing human body composition detection, and determining the obesity type; and C, controlling the diet by taking dietary fiber according to the pure obese gene detection result and the body composition detection result, and meanwhile matching proper exercise.

The invention discloses a kit for genetic detection of diabetes. The kit comprises a specific primer pair and a specific probe pair which are used for detecting the mononucleotide polymorphism loci genotype of an apolipoprotein B gene (APOB), a leptin gene (LEP), a lipoprotein lipase gene (LPL) and an uncoupling protein 2 gene (UCP2), a fluorescent quantitative PCR general component and the like. The kit can evaluate the genetic risk of individuals suffered from the obesity by detecting the polymorphism loci genotype of the genes closely related to the genetic risk of the obesity at the same time.

The invention discloses a kit for genetic detection of breast cancer. The kit comprises a specific primer pair and a specific probe pair which are used for detecting the mononucleotide polymorphism loci genotype of an estrogen receptor alpha gene (ER-alpha), a catechol-o-methyltransferas gene (COMT), a glutathione-s-transferase P1 gene (GSTP1), a human breast cancer susceptibility gene 1 (BRCA1), and a human breast cancer susceptibility gene 2(BRCA2), a fluorescent quantitative PCR general component and the like. The kit can evaluate the genetic risk of individuals suffered from the breast cancer by detecting the polymorphism loci genotype of the genes closely related to the genetic risk of the breast cancer at the same time.

The invention provides a group of thyroid cancer markers and an application thereof. The markers comprise thyroid cancer molecular typing related genes, targeted medication related genes, chemotherapymedication related genes, operation prompt related genes, prognosis related genes and thyroid cancer heredity related genes. According to the invention, aiming at all exon regions of 44 genes relatedto thyroid molecular typing, targeted medication, chemotherapy medication, operation prompt, prognosis and heredity, high-depth sequencing is carried out; meanwhile, various variation types like SNV / Indel and gene fusion of genes are analyzed; and molecular level information of thyroid nodules and thyroid cancer is deeply analyzed. Aiming at a capture probe designed for the 44 genes, 558 targeting target regions are covered; the probe comprises 3633 sequences with a total size of 254.096 Kbp; and a prepared kit is wide in coverage, high in cost performance and high in effectiveness, can provide a reference basis for further molecular typing, medication prompt, genetic risk assessment and the like of a thyroid patient, and is applicable to clinical popularization and application.

The invention discloses a user recommendation method and device based on a block chain, equipment and a storage medium, and belongs to the technical field of block chains. The embodiment of the invention provides a technical scheme for recommending marriage friends by utilizing a block chain, specifically including the steps: storing the gene information of the user in the block chain, and when the user needs to recommend the marriage object, matching the gene information of the user with the gene information of other users respectively to find the user matching the gene information of the user, so that the proper marriage object is recommended to the user. As the block chain technology has the characteristic of decentralization, the block chain is used for storing the gene information, toavoid the risk of data leakage caused by the fault of the centralized node, and avoid the risk of gene information leakage of a user. Moreover, since the gene information contains rich characteristics such as characters and gene genetic risks, the marriage objects are matched by using the gene information, so that the marriage objects generally matched with the characters of the user can be found, and the risk of gene inheritance is avoided.

The present disclosure relates to methods and systems for assessing the risk of a human female subject for developing breast cancer. In particular, the present disclosure relates to combining clinical risk assessment and genetic risk assessment to improve risk analysis.

The invention discloses a kit that is used for genetic risk detection of individual angiocardiopathy as well as health evaluation and management. The kit comprises an electrophoresis detecting primer pair that is used for detecting rs4646994 SNP polymorphism genotype on the gene of angiotonin converting enzyme (ACE), particularity primer pairs and particularity fluorescent probe pairs that are used for detecting rs5186 SNP locus on the gene of angiotonin II-1 type receptor (AGTR1), rs5443 SNP locus on the gene of G protein 3 subunit (GNB3) and rs1799983 SNP locus on the gene of endothelial nitric oxide synthase (NOS3), a fluorescent quantitative PCR routine component, and a PCR reaction component, etc. The kit of the invention implements cardiovascular health evaluation of detected person by evaluating the generic risk of developing angiocardiopathy and makes a health management plan that satisfies the genetic predisposition of detected person according to the four SNP locus genotypes that related with the genetic risk of developing angiocardiopathy of the detected person.

An embodiment of the present invention is a method for resolving long-range haplotype phase based on family pedigree data, inheritance state determination, and population linkage disequilibrium data. A method according to an embodiment of the present invention provides for the evaluation of genome wide risk using phased haplotype data.