368 results about "Gene Variant" patented technology

The invention provides methods, apparatuses, and compositions for high-throughput amplification sequencing of specific target sequences in one or more samples. In some aspects, barcode-tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences. In some aspects, sequencing data are used to determine one or more genotypes at one or more loci comprising a causal genetic variant. In some aspects, systems and methods of detecting genetic variation are provided.

The method for genome analysis translates the clinical findings in the patient into a comprehensive test order for genes that can be causative of the patient's illness, delimits analysis of variants identified in the patient's genome to those that are “on target” for the patient's illness, and provides clinical annotation of the likely causative variants for inclusion in a variant warehouse that is updated as a result of each sample that is analyzed and that, in turn, provides a source of additional annotation for variants. The method uses a genome sequence having the steps of entering at least one clinical feature of a patient by an end-user, assigning a weighted value to the term based on the probability of the presence of the term, mapping the term to at least one disease by accessing a knowledge base containing a plurality of data sets, wherein the data sets are made up of associations between (i) clinical features and diseases, (ii) diseases and genes, (iii) genes and genetic variants, and (iv) diseases and gene variants, assigning a truth value to each of the mapped terms based on the associated data sets and the weighted value, to provide a list of results of possible diagnoses prioritized based on the truth values, with continuous adjustment of the weightings of associations in the knowledge base based on updating of each discovered diagnosis and attendant clinical features, genes and gene variants. This method can be performed in fifty hours or twenty-four hours or less.

The present invention relates to the use of genetic variants of associated marker genes to predict an individual's response to diet. The present invention further relates to analytical assays and computational methods using the novel marker gene set. The present invention has utility for developing personalized diet regimens to optimize physiological response, including changes in body mass index (BMI) and blood lipid and triglyceride levels.

The present invention provides a novel class of molecules, termed “compomers,” that enable the indirect detection of target molecules, as well as novel target detection reagents and compomer templates that encode compomers. Compomers are linear polymers generated from the compomer template portion of a target detection reagent during the course of an assay. In a given assay, each compomer species is correlated with a different target molecule, e.g., a carbohydrate, lipid, polypeptide, or target nucleic acid, particularly a specific nucleotide sequence within a target nucleic acid molecule. When, for example, a target nucleic acid is present in an assay, a compomer species specifically and uniquely correlated with the particular target (e.g., a known SNP or other genetic variant) is generated directly from a target-specific detection reagent (or indirectly from a larger precursor encoded by the compomer template and from which it is subsequently released), after which it can readily be detected, even in an assay where tens, hundreds, or thousands of different compomer species may be generated, as each compomer species is engineered to differ from the others by a small, resolvable defined characteristic (e.g., a mass increment, a difference in subunit composition, sequence, size, length, etc.). When coupled with highly sensitive detection techniques (e.g., MALDI-TOF mass spectrometry, nucleic acid hybridization, nuclear magnetic resonance, etc.), a large number of different compomer species can be detected in a single reaction, thereby facilitating highly multiplexed analyses of complex samples.

Improved systems and methods for performing genetic analyses. Full genomic DNA scans are performed on the genetic DNA from a plurality of individuals to identify genetic variants. For those variants, but not based on a full genetic DNA scan, the variants alone are scanned in additional individuals to identify blocks of the variants that tend to be inherited together.

Variants in TLK1, WARS2, ARTS2, MSR, AKAP9, DNAJD1, GOLPH4, RABEP1, TAP2, NARG2, DDX58, CD39, FKBP1a, SRI, XRRA1, IRF5 and AMFR genes are disclosed which are useful as biomarkers for predicting the TLK1, WARS2, ARTS2, MSR, AKAP9, DNAJD1, GOLPH4, RABEP1, TAP2, NARG2, DDX58, CD39, FKBP1a, SRI, XRRA1, IRF5 or AMFR gene expression level and the biological functions associated thereof.

The invention provides methods, apparatuses, and compositions for high-throughput amplification sequencing of specific target sequences in one or more samples. In some aspects, barcode-tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences. In some aspects, sequencing data are used to determine one or more genotypes at one or more loci comprising a causal genetic variant.

Computationally-efficient techniques facilitate secure crowdsourcing of genomic and phenotypic data, e.g., for large-scale association studies. In one embodiment, a method begins by receiving, via a secret sharing protocol, genomic and phenotypic data of individual study participants. Another data set, comprising results of pre-computation over random number data, e.g., mutually independent and uniformly-distributed random numbers and results of calculations over those random numbers, is also received via secret sharing. A secure computation then is executed against the secretly-shared genomic and phenotypic data, using the secretly-shared results of the pre-computation over random number data, to generate a set of genome-wide association study (GWAS) statistics. For increased computational efficiency, at least a part of the computation is executed over dimensionality-reduced genomic data. The resulting GWAS statistics are then used to identify genetic variants that are statistically-correlated with a phenotype of interest.

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 discloses genetic variants that have been found to be predictive of risk of particular forms of cancer, in particular basal cell carcinoma and cutaneous melanoma. The invention provides methods of predicting risk of developing such cancers, and other methods pertaining to risk management of cancer utilizing such risk variants. The invention furthermore provides kits and computer systems for use in such methods.

The invention is generally directed to a physiogenomic method for predicting diabetes and metabolic syndromes induced by psychotropic drugs. In one embodiment, the invention relates to the use of genetic variants of marker genes to predict the likelihood that an individual will experience undesirable metabolic side effects as a result of the use of a drug including, but not limited to, psychotropic drugs. The invention also relates to methods predicting the likelihood of diabetes and metabolic syndromes induced by the use of drugs with undesirable metabolic side effects.

The present invention provides multiplexed sequential ligation-based analysis of genetic variants in a mixed sample, including copy number variations and single nucleotide polymorphisms. The invention employs the techniques of sequential ligation and amplification.

Disclosed herein are systems, methods, and compositions useful for determining cellular pathway disruption comprising the use of RNA expression level information. This determined level of disruption can assist in the identification of genetic variants that alter pathway activity, to correlate these variants with disease state and disease progression, and to identify those therapeutics most likely to be effective and which should be avoided.

Disclosed are systems, media, and methods for providing a genomic search engine application comprising: a plurality of indices, recorded in the computer storage, the indices comprising tokenized genomic data; a software module providing an indexing pipeline, the indexing pipeline ingesting genomic data and annotation associated with the genomic data, tokenizing the data while preserving gene names and gene variant names, and updating the indices with the tokenized data; and a software module presenting a user interface allowing a user to enter a user query; a software module providing a query engine, the query engine accepting the user query, selecting one or more relevant indices, and applying a ranking formula to the selected indices to return ranked results.

The present invention is directed to methods and compositions for determining the presence or absence of polymorphisms within an ABCC2, UGT1A1, and/or SLCO1B1 gene and correlating these polymorphisms with activity levels of their gene products and making evaluations regarding the effect on their substrates, particularly those substrates that are drugs. In addition, there are methods and compositions of evaluating the risk of an individual for developing toxicity or adverse event(s) to an ABCC2, UGT1A1, and/or SLCO1B1 substrate. In some embodiments, the invention concerns methods and compositions for determining the presence or absence of ABCC2 3972C>T variant and predicting or anticipating the level of activity of ABCC2 and determining dosages of an ABCC2 drug substrate, such as irinotecan, in a patient. Such methods and compositions can be used to evaluate whether irinotecan-based therapy, or therapy involving other ABCC2 substrates, may pose toxicity problems if given to a particular patient or predicting their efficacy. Alterations in suggested therapy may ensue based on genotyping results.

The disclosure provides compositions, kits, and methods for detecting a plurality of genes and associated variants in a sample from a subject with lung cancer. The compositions, kits, and methods include a set of oligonucleotides, typically primers and/or probes that can hybridize to identify a gene variant. The methods disclosed herein provide for a mutation status of a tumor to be determined and subsequently associated with an actionable treatment recommendation.

Risk engines and related methods may benefit patients and their physicians. For example, patients may benefit from being able to determine their personal genetic, environmental, and behavioral risks. Moreover, physicians may be able to provide statistically-driven individual recommendations based on a risk engine's determination of such risks. A method can include selecting one or more candidate genetic variants associated with a phenotype from the scientific literature. The method can also include scoring a genetic association between the one or more candidate genetic variants and the phenotype. The method can further include selecting one or more high-scoring genetic variants. Selecting a best genetic variant within each of at least one linkage disequilibrium (LD) block can also be included in the method. The method can additionally include calculating risk associated with the best genetic variant from the at least one LD block.

The present invention relates to a DNA polymerase having increased gene mutation specificity and a PCR buffer composition for increasing activity of the DNA polymerase. More specifically, provided, inthe present invention, are a DNA polymerase in which a mutation is induced at a specific amino acid position to increase gene mutation specificity, a nucleic acid sequence encoding the polymerase, avector comprising the nucleic acid sequence, and a host cell transformed with the vector. In addition, provided is a method for in vitro detecting one or more gene mutations or SNPs in one or more templates by using a DNA polymerase having increased gene mutation specificity, a composition for detecting a gene mutation or SNP comprising the DNA polymerase, and a PCR kit comprising said composition. Furthermore, provided are a PCR buffer composition for increasing the activity of a DNA polymerase having increased gene mutation specificity, a PCR kit for detecting a gene mutation or SNP comprising the PCR buffer composition and/or the DNA polymerase having increased gene mutation specificity, and a method for in vitro detecting one or more gene mutations or SNPs in one or more templates by using the kit.

The invention provides methods for determining the clinical outcomes for treatment with various treatment regimens available to cancer patients based on genotypes of the patients for genetic polymorphism markers. The invention also provides kits for making the determination.

The invention discloses a quality control method for detecting human EGFR (Epidermal Growth Factor Receptor) gene variation based on high-throughput sequencing and a kit, and applications thereof. The quality control method comprises the following steps: extracting a plurality of genome DNAs of an EGFR gene variation-positive human tumor cell line; measuring variation positive sites as positive control sites through a Sanger sequencing method; fragmenting the genome DNAs and mixing according to a certain proportion to obtain a quality control product which can be applied high-throughput sequencing detection of human EGFR gene variation. The kit comprises the human EGFR gene variation detection quality control product.

Polymorphic variants (e.g., certain alleles of polymorphic markers) that have been found to be associated with high blood eosinophil counts, conditions causative of eosinophilia (e.g., asthma, myocardial infarction), and/or hypertension are provided herein. Such polymorphic markers are useful for diagnostic purposes, such as in methods of determining a susceptibility, and for prognostic purposes, including methods of predicting prognosis and methods of assessing an individual for probability of a response to a therapeutic agent, as further described herein. Further applications utilize the polymorphic markers of the invention include, screening methods and genotyping methods. The invention furthermore provides related kits, computer-readable medium, and apparatus.