70 results about "Pharmacogenomics" patented technology

The present invention is based on the encoding of sequential data or sequences in a novel manner that permits efficient storage and processing of sequential data, as well as methods for searching sequences or databases of sequences. The methods and systems of the current invention may be adapted broadly to various fields of application and to a variety of sequences types. For example, the current invention has broad application including to the fields of bioinformatics, molecular biology, pharmacogenomics, phonetic sequences, lexicographic sequences, signal analysis, game playing, law enforcement, biometrics, medical diagnosis, equipment maintenance and micro-array data analysis.

The present invention provides compositions, kits, assemblies, libraries, arrays, and high throughput methods for large scale structural and functional characterization of gene expression regulatory elements in a genome of an organism, especially in a human genome, that are part of a common pathway. In one aspect of the invention, an array of expression constructs is provided, each of the expression constructs comprising: a nucleic acid segment operably linked with a reporter sequence in an expression vector such that expression of the reporter sequence is under the transcriptional control of the nucleic acid segment. The present invention can have a wide variety of applications such as in personalized medicine, pharmacogenomics, and correlation of polymorphisms with phenotypic traits.

The invention provides a system and methods for the determination of the pharmacogenomic phenotype of any individual or group of individuals, ideally classified to a discrete, specific and defined pharmacogenomic population(s) using machine learning and population structure. Specifically, the invention provides a system that integrates several subsystems, including (1) a system to classify an individual as to pharmacogenomic cohort status using properties of underlying structural elements of the human population based on differences in the variations of specific genes that encode proteins and enzymes involved in the absorption, distribution, metabolism and excretion (ADME) of drugs and xenobiotics, (2) the use of a pre-trained learning machine for classification of a set of electronic health records (EHRs) as to pharmacogenomic phenotype in lieu of genotype data contained in the set of EHRs, (3) a system for prediction of pharmacological risk within an inpatient setting using the system of the invention, (4) a method of drug discovery and development using pattern-matching of previous drugs based on pharmacogenomic phenotype population clusters, and (5) a method to build an optimal pharmacogenomics knowledge base through derivatives of private databases contained in pharmaceutical companies, biotechnology companies and academic research centers without the risk of exposing raw data contained in such databases. Embodiments include pharmacogenomic decision support for an individual patient in an inpatient setting, and optimization of clinical cohorts based on pharmacogenomic phenotype for clinical trials in drug development.

Methods for developing an ontology of pharmacogenomics (PGx) relationships starting from a lexicon of key pharmacogenomic entities and a syntactic parse is described. The syntactic structure of PGx statements is used to systematically extract commonly occurring relationships and to map them to a common schema. In an embodiment, extracted relationships have a 70-87.7% precision and involve not only key PGx entities such as genes, drugs, and phenotypes (e.g., VKORCl, warfarin, clotting disorder), but also critical entities that are frequently modified by these key entities (e.g., VKORCl polymorphism, warfarin response, clotting disorder treatment).

The present invention is based on the encoding of sequential data or sequences in a novel manner that permits efficient storage and processing of sequential data, as well as methods for searching sequences or databases of sequences. The methods and systems of the current invention may be adapted broadly to various fields of application and to a variety of sequences types. For example, the current invention has broad application including to the fields of bioinformatics, molecular biology, pharmacogenomics, phonetic sequences, lexicographic sequences, signal analysis, game playing, law enforcement, biometrics, medical diagnosis, equipment maintenance and micro-array data analysis.

The present invention relates to the selection of a set of SNP markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's longevity, their protection against age-related diseases and / or their response to a particular drug or drugs.

The present invention relates to the selection of a set of polymorphism markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to Crohn's disease and / or their response to a particular drug or drugs.

The present invention relates to a new skin gene card for genetic test, a method for acquiring DNA and RNA and performing various genetic tests using the same, and practical applications thereof. More specifically, the inventors of the present invention have developed a skin gene card capable of acquiring samples from human skin, hair or mucosa simply, safely and quickly and enabling stable long-term storage and transport of DNA and RNA included in the acquired sample at room temperature. Various genetic tests may performed using the acquired DNA and RNA, including polymerase chain reaction (PCR), reverse transcription (RT)-PCR, real-time PCR, sequencing, hybridization, DNA chip analysis, single-nucleotide polymorphism (SNP) assay, gene mutation assay, promoter methylation assay, gene expression assay, etc. The genetic skin test result may be utilized for disease prognosis, nutrigenomic test, pharmacogenomic test, forensic test such as personal identification, diagnosis of genetic diseases, diagnosis of skin diseases, or the like. In addition, through an objective evaluation of the skin or hair condition, a personalized cosmetic and skin care system may be established for practical application in beauty care, cosmetology, dermatology, and clinical practice.

A gene-drug specific system for classifying individual genetic variants based on strength-of-evidence of clinical utility from published scientific and clinical data that support their effect on modifying drug response and behavior. This allows categorization of the genetic variants into evidence classes that have a wide range of uses such as pharmacogenomic molecular diagnostics and personalized medicine research designed to guide the clinical implementation of PGx. Furthermore, this information can be combined with a knowledgebase of drug-response phenotypes, a knowlegebase of specific drug-induced outcomes and individual patient diplotype information for a gene-drug combination into a programmed computer to output corresponding patient-specific predicted drug responses.

The present invention relates to the selection of a set of polymorphism markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to ADHD disease and / or their response to a particular drug or drugs.

The invention belongs to the field of pharmacogenomics and genetic diagnosis, and relates to a method used for detecting HLA-B*5801 alleles. The method comprises following steps: a DNA sample to be detected is taken, three pairs of specific primers and a pair of internal primers are taken, amplification of DNA segments is realized by using sequence specific primer method, and then the results of the amplification are analyzed by agarose gel electrophoresis; or sample DNA is extracted, a pair of specific primers, a pair of internal primers and three fluorescence probes are taken, amplification of DNA segments is realized by Taqman probe method using a fluorescence ration PCR instrument, and then the amplification curve is analyzed so as to obtain results. Results analysis methods such as agarose gel electrophoresis, high resolution melting curve and SYBRGreen fluorogenic quantitative PCR are employed in the method. The method has advantages of speediness, convenience, flexibility, high resolution and no contamination; is suitable for detection of HLA-B*5801 alleles in samples such as peripheral blood and hair; and can be used for determining the probability of severe skin adverse reaction of patients with gout or hyperuricemia caused by taking of allopurinol.

The present invention relates to the selection of a set of polymorphism makers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to IBD (ex: Chrohn's disease) and / or their response to a particular drug or drugs.

The invention provides a collaborative anti-tumor multi-drug combination effect prediction method based on a deep learning algorithm and pharmacogenomics. The collaborative anti-tumor multi-drug combination effect prediction method comprises the following steps: (1) mining and preprocessing large-scale pharmacogenomics data; (2) effectively integrating different feature information and constructing a modeling sample; (3) constructing a collaborative anti-tumor multi-drug combination prediction model based on large-scale sample data and a deep learning algorithm; and (4) performing parameter optimization and performance improvement of the model. According to the method, an artificial intelligence deep learning algorithm and pharmacogenomics are effectively combined, the limitation that a traditional collaborative drug combination prediction method can only be used for predicting the synergistic effect between every two drugs is overcome, and the specific collaborative anti-tumor multi-drug combination can be screened out for different tumor cells through the gene level; therefore, theoretical basis and technical support are provided for solving the problem of tumor drug resistance,and more effective treatment schemes are further provided for clinical tumor treatment.

The present invention relates to the selection of a set of polymorphism markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to SCHIZOPHRENIA disease and / or their response to a particular drug or drugs.

The invention provides a warfarin individual anticoagulant pharmacogenomics detection kit suitable for Chinese population, which mainly comprises CYP2C9, VKORC1 and CYP4F2 related gene-type amplification primers, CYP2C9, VKORC1 and CYP4F2 related gene-type sequencing primers, a polymerase chain reaction (PCR) reagent and a sequencing reagent. The warfarin individual anticoagulant pharmacogenomicsdetection kit suitable for the Chinese population also can comprise a specification used for explaining a warfarin pharmacogenomics dose prediction model suitable for the Chinese population or / and a computer readable storage medium recording the warfarin pharmacogenomics dose prediction model suitable for the Chinese population. The warfarin pharmacogenomics detection kit provided by the invention is simple in preparation and is convenient in use. By adopting the kit, the warfarin anticoagulant therapy dose of Chinese patient population can be accurately estimated through detecting warfarin pharmacogenomics indexes, integrating clinical environmental factors and utilizing warfarin pharmacogenomics dose prediction model software suitable for the Chinese population, which is established by the invention.

The invention relates to the field of precise medicines, in particular to a primer group for detecting genotype in pharmacogenomics, a kit and a detection method for instructing personalized medicineadministration. The primer group for detecting the genotype in the pharmacogenomics comprises 390 primers, wherein nucleic acid sequences of the 390 primers are shown in SEQ ID NO:1 to 390. The primergroup for detecting the genotype in the pharmacogenomics has the advantages that after massive screening and analyzing, the primer is designed for 77 genes and 219 sites, so as to obtain the primer group; the primer group can simultaneously detect the safety, validity and toxic or side effects of 160 types of medicines in different individuals, so that the cost is reduced, and the detection efficiency is improved; demonstrated by test for multiple times, the target gene can be accurately detected, the condition of reaction to the medicine can be stably and accurately reflected, and the clinical requirement can be well met.

Novel human polynucleotide and polypeptide sequences are disclosed that can be used in therapeutic, diagnostic, and pharmacogenomic applications.

The present invention relates to a method of discovering pharmacogenomic biomarkers that are correlated with varied individual responses (efficacy, adverse effect, and other end points) to therapeutic agents. The present invention provides a mean to utilize archived clinical samples to perform genome-wide association study in order to identify novel pharmacogenomic biomarkers. The newly discovered biomarkers can then be developed into companion diagnostic tests which can help to predict drug responses and apply drugs only to those who will be benefited, or exclude those who might have adverse effects, by the treatment.

The present invention relates to the ATG16l1 gene and genetic variants associated with Crohn's disease. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to Crohn's disease and / or their response to a particular drug or drugs.

The invention relates to the field of computer-aided drug screening, in particular to a compound hepatotoxicity early prediction method based on deep learning and gene expression data, which comprisesthe following steps: (1) mining and preprocessing compound toxicology gene expression data; (2) selecting hepatotoxicity characteristic genes; (3) establishing a deep learning prediction model basedon the expression data of the hepatotoxicity characteristic gene; and (4) performing parameter optimization and performance improvement of the model. According to the method, pharmacogenomics and an artificial intelligence deep learning algorithm are fully combined, so that the limitation of a traditional compound hepatotoxicity prediction method is overcome, and the early prediction of the delayed hepatotoxicity of the compound is systematically realized through a gene level; an efficient, accurate and rapid compound hepatotoxicity prediction method is provided for preclinical toxicity safetyassessment and clinical reasonable medication in a new drug research and development process.

Molecular beacon for detecting an infection and / or expression or a mutation of a disease marker for diagnostics and pharmacogenomics. The molecular beacon is capable of hybridizing a disease-related RNA or DNA of a disease marker in a specimen obtained from a living subject, thereby emitting a signal detectable without a need for signal amplification. The disease marker includes a genetic sequence specific to a pathogen including a flu virus, a cancer cell marker, and a drug resistance-related genetic mutation marker for a drug resistant cancer and infectious pathogen. To detect a disease cell, a specimen containing one or more cells is obtained from a living subject, and fixed by an organic solvent. A molecular beacon is then added to the specimen, followed by staining nuclei of the cells in the specimen. The signal is detectable with a microscope, FACS scan, ELISA plate reader, Scanner, or any combinations thereof.

The invention relates to a kit for testing clozapine application effect based on rs2032582 and an application method of the kit, and particularly relates to a method for testing single nucleotide polymorphism of ABCB1 (ATP binding cassette subfamily B member 1) NO.8 exon in the field of genes. Sequence of the nucleotide, which is isolated and comprises single nucleotide polymorphism locus, is as shown as SEQ ID NO:1; the single nucleotide polymorphism locus is located at NO.3169, rs2032582 (C->T). The method for testing the nucleotide includes the steps of firstly, testing the nucleotide at the locus NO.3169 of the sequence as shown as SEQ ID NO:1; secondly, testing whether there is of the single nucleotide polymorphism at the locus NO.3169 or not by means of a Taqman-MGB typing method. According to the kit, the application method thereof and the method for testing the nucleotide, a foundation for research on ABCB1 gene polymorphism and clinical medicine safety is laid, a theoretical basis for individualization of clinical medicine is provided, and a guidance for research and development of novel medicines based on pharmacogenomics idea is also provided.

Several embodiments disclosed herein relate to methods of providing an optimized drug therapy that is specialized or customized for an individual subject or a group of subjects based, at least in part, on one or more of the genetic profile of the subject, the pharmacogenomic profile of the subject, and / or evaluation of possible drug-drug interactions. In several embodiments, systems specialized for performing one or more aspects of the methods are provided.

The present invention relates to the field of pharmacogenomics and in particular to detecting the presence or absence of hypermethylated DNA. The detection of CpG methylation in marker DNA is useful for the diagnosis of cancers and the invention provides improved methods for this purpose. These improved methods allow in particular for a more sensitive detection of methylated marker DNA with high backgrounds of unmethylated marker DNA.

A genomic prescribing system and methods utilizes pharmacogenomic information to enhance patient-centered care by delivering preemptively-obtained, patient-specific pharmacogenomic results with accompanying prescribing recommendations.

The present invention provides a genotype conversion method and apparatus, and an electronic device. The genotype conversion method comprises: establishing a genotype library according to a genetic pharmacology and pharmacogenomics database pharmGKB; obtaining a VCF file and a BAM file corresponding to the to-be-detected gene, wherein both the VCF file and the BAM file carry the locus information;extracting wild type locus information from the BAM file, and extracting mutant locus information from the VCF file; and according to the wild type locus information and the mutant locus information,based on the genotype library, converting the locus information into the genotype by using a genotype converter. According to the technical scheme of the present invention, through the wild type genelocus and the mutant gene locus, based on the genotype library established in advance according to the pharmGKB, the genotype can be accurately located with a fast speed and high accuracy, and the batch processing can be performed, so that the genotype classification and recognition efficiency is effectively improved, and the cost is greatly reduced.

Provided herein are computer-based methods for generating and using three-dimensional (3-D) structural models of target molecules and databases containing the models. The targets can be protein structural variants derived from genes containing polymorphisms. The models are generated using molecular modeling techniques and are used in structure-based drug design studies for identifying drugs that bind to particular structural variants in structure-based drug design studies, for designing allele-specific drugs and population-specific drugs and for predicting clinical responses in patients. Computer-based methods for predicting drug resistance or sensitivity via computational phenotyping are also provided. Databases containing protein structural variant models are also provided.

The present invention relates to the identification of a novel mechanism of transcription infidelity in cells. The invention provides compositions and methods to detect the level of transcript ion infidelity in a sample, as well as the use thereof, e.g., for therapeutic, diagnostic, pharmacogenomic or drug design. As will be disclosed, the invention is particularly suited for detecting, monitoring or treating proliferative cell disorders, for the design and / or screening of drugs, for patient or disease profiling, prediction of disease severity and evaluation of drug efficacy.

The invention discloses an application of a product for detecting CYP3A4 rs2242480 and CYP3A4 rs4646437 gene locus mutation in preparation of a product for predicting or evaluating the metabolic condition of a patient taking tacrolimus. According to the application, single nucleic acid polymorphisms (SNP) of CYP3A4 rs2242480 and rs4646437 loci of 221 patients with kidney transplantation are determined and clinical combined medication conditions are discussed; genomics and statistical analysis find that combined use of a Wuzhi-capsule (WZC) and a CYP3A4 rs22480-rs4646437 polyploidy is a main factor affecting in vivo metabolism of the tacrolimus; in the aspect of pharmacogenomics, individualized medication of TAC is considered and a dosage prediction scheme of the TAC is formulated; safe, effective, economical and appropriate individualized medication of the TAC is achieved; and a theoretical basis is provided for clinical individualized medication and medication scheme adjustment.