427 results about "Genetic variation" patented technology

Methods and uses for molecular tags are disclosed. Molecular tags may be attached to nucleic acid molecules. The attachment of the nucleic acid molecules prior to PCR amplification and sequencing improves the accuracy of genetic analysis and detection of genetic variations and diversity. Molecular tags may also be used for detection of drug-resistant variants. Methods for using molecular tags for determining and correcting PCR errors and/or sequencing error are also disclosed.

The present invention relates to a computationally efficient method of finding patterns in any data that can be expressed in the form of arrays of binary features or arrays of categorical features. This includes data represented by continuous-valued attributes that can be transformed to a categorical representation, such as the discovery of patterns of genetic variability that may be causally related to diseases or traits, as well as the discovery of patterns of protein biomarkers that may be used for medical diagnostics, prognostics, and therapeutics. The invention further relates to a program storage device having instructions for controlling a computer system to perform the methods, and to a program storage device containing data structures used in the practice of the methods.

Polymorphic variants that have been found to be associated with risk of urinary bladder cancer 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 therapeutic 5 agents, as further described herein. Further applications utilize the polymorphic markers of the invention include screening and genotyping methods. The invention furthermore provides related kits, and computer-readable media and apparatus.

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.

This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

A system, method, and mobile device application are configured to capture, with a mobile device, a document such as a next generation sequencing (NGS) report that includes NGS medical information about a genetically sequenced patient. At least some of the information is extracted from the document using an entity linking engine, and the extracted information is provided into a structured data repository where it is accessible to provide information regarding the patient specifically as well as collectively as part of a cohort of patients with similar genetic variants, medical histories, or other commonalities. In one aspect, the document is matched to a template model, and the document is processed using one or more masks segregating the template model, and therefore the document, into a series of distinct subregions.

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.

High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.

This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.

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.

This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.

The present disclosure describes the use of genetic variance information for genes involved in inflammatory or immunologic disease, disorder, or dysfunction. The variance information is indicative of the expected response of a patient to a method of treatment. Methods of determining relevant variance information and additional methods of using such variance information are also described.

Processing genetic information comprises: receiving an input that includes information pertaining to a specific genetic variant; and identifying, in a database comprising genotype information of a plurality of candidate individuals, a matching individual imputed to have the specific genetic variant. The genotype information of the matching individual corresponding to the specific genetic variant is not directly assayed.

The present invention relates to processes, systems and methods for estimating the effects of genetic polymorphisms associated with traits and diseases, based on distributions of observed effects across multiple loci. In particular, the present invention provides systems and methods for analyzing genetic variant data including estimating the proportion of polymorphisms truly associated with the phenotypes of interest, the probability that a given polymorphism has a true association with the phenotypes of interest, and the predicted effect size of a given genetic variant in independent de novo samples given effect size distributions in observed samples. The present invention also relates to using the described systems and methods and use of genetic polymorphisms across a plurality of loci and a plurality of phenotypes to diagnose, characterize, optimize treatment and predict diseases and traits.

The present disclosure presents a unified system to phase a personal genome for downstream clinical interpretation. In an embodiment, an initial phasing is generated using public datasets, such as haplotypes from the 1000 Genomes Project, and a phasing toolkit. A local perturbation algorithm is applied to improve long range phasing. If available, a Mendelian inheritance pipeline is applied to identify phasing of novel and rare variants. These datasets are merged, followed by correction by any experimental data. This allows for full clinical interpretation of the role of a group of variants in a gene, whether inherited or de novo variants.

The techniques described herein relate identification of disease-causing genetic variant by machine learning classification. The techniques may include receiving a training dataset of predetermined variants associated with disease. A hyperplane is identified having a maximum margin between points of the dataset. Patient input data is received including an observed variant of a gene. Features of the observed variant are selected, and a score is determined The score is determined using Support Vector Machine algorithms based on an observation of a novel non-linear relationship with the selected features of the observed variant. The observed variant may be classified based on the score indicating a distance of the observed variant from the identified hyperplane.

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 a method of identifying genetic variants within a population of sequences. The method includes the steps of aligning a set of sequence data reads to reference sequences, dividing reference sequences into multiple tracks of overlapping regions of analysis (ROAs), partitioning each read into a ROA, identifying a plurality of sequence patterns in the reads, setting a sequence pattern frequency threshold value, eliminating any sequence pattern that has a value below the frequency threshold value forming a plurality of dictionaries from the sequence patterns having a value above the frequency threshold value, and cross-validating sequence patterns via partial sequence assembly. The method may optionally include amending the reference sequences used in iterative re-alignment of sequence data.

Systems and methods for identifying genetic variations in a disease and diagnosing a patient with a mental illness, or a generic variant of same. The systems and methods use genomics and phenomics in a computer-implemented methods to identify biclusters in phenomic and genomic data, discover relationships among the biclusters, organize the relations into partitions, rank the predictive utility of features, and map the disease risk function. This can in turn be used to diagnose a patient in a person-centered fashion.

The invention provides an orthogonal frequency division multiplexing (OFDM) system subcarrier allocation method based on SGA in wireless transmission technology field. Firstly, the invention obtains channel status information of each user on different subcarriers, according to channel estimation; and then, transfers SGA for optimum subcarrier allocation; wherein the SGA adopts integer coding and cyclic shift scissor to improve search capability; after fitness function computation of species group with generic variation each time, continues to judge whether the algorithm should stop, according to the termination condition and obtains the subcarrier allocation proposal. Compared with prior art, the invention improves system performance greatly and the advanced SGA in the invention has faster velocity of convergence, compared with the traditional SGA.

The present invention is characterised by certain genetic variants being susceptibility variants for prostate cancer. The invention relates to methods of determining increased susceptibility to prostate cancer, as well as methods of determining decreased susceptibility to prostate cancer, using such variants. The invention further relates to kits for determining a susceptibility to prostate cancer.

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 relates to a breed conservation, screening and breed production method in tilapia complete set lines, comprising the following steps of: construction of complete set line base populations rich in hereditary variation, establishment of operation procedures of family production and management in the complete set lines, marking of individuals in the complete set lines, genetic evaluation analysis of important production traits and establishment of individual mating selection programs in the complete set lines. The invention also provides a hybrid breed production method between twolines of complete sets, which is established by utilizing the method. The method disclosed by the invention has the characteristics of high pertinence, high selection breeding efficiency, capability of effectively preventing parent inbreeding depression of the complete set lines and the like; the harvest weight of the hybrid fine breed of tilapia is averagely increased by more than 30% than that of control groups; and the culture survival rate is also obviously higher than that of the control groups. According to the invention, a new technical approach is developed for cultivation of fish fine breeds; particularly a new selection breeding method is applied in the breed conservation, the screening and the breed production of the complete set lines in fish hybrid breeding; and the method isalso suitable for being popularized and applied in all cultured fishes and has broad popularization and application prospects.