119 results about "Gene Variant" patented technology

A system and method for processing genomic data using dynamic latent manifolds that transforms multi-modal genomic datasets into geometric representations within a curved manifold space. The system receives genomic datasets including DNA sequences, genetic variants, and expression data, then extracts biological features and assesses importance using trained neural networks. Manifold curvature values are computed based on biological significance, and genomic data is embedded as geometric structures where semantic relationships are represented through distance and curvature properties. The system generates compression pressure fields that influence processing decisions and computes optimal geodesic paths through the manifold to minimize cognitive action functionals. Adaptive compression rates are determined for different genomic regions based on geometric properties and biological importance. The manifold structure evolves through use, strengthening frequently accessed pathways while applying thermodynamic decay to unused concepts. The system supports hierarchical organization across biological scales, reversible navigation, and federated learning capabilities that enable privacy-preserving collaboration.

The present disclosure provides methods, compositions and systems for identifying variant targets of interest, for example, in clinically actionable genes. Disclosed herein are representative assays for identifying gene variants, for example, that are implicated in one or more drug metabolism pathways. The methods, composition and systems disclosed herein enable a highly streamlined and cost-effective workflow for moving forward the emerging field of personalized medicine and related fields of study such as pharmacogenomics.

The present disclosure provides systems and methods to detect somatic or germline variants by providing a predetermined genomic DNA (gDNA) to an assay mixture, and capturing a sample of a subject's genetic information using a DNA sequencer and detecting genetic variants from the genetic information. A mutation may then be classified as being from a germline source if gDNA derived molecules have lengths inconsistent with those expected from cell-free DNA (cfDNA) derived molecules.

The invention discloses a method and a system for assisting in inputting clinical information of rare diseases and analyzing gene mutation based on phenotypes. The method comprises the following steps: firstly, acquiring clinical information in voice, text and image forms of a patient through a multi-source data acquisition module, converting the clinical information into characters, and performing entity recognition and standardization processing to generate structured medical record data; secondly, extracting clinical phenotypes from the structured data; furthermore, a candidate gene list is obtained according to the gene-disease relationship, comprehensive scoring and sorting are carried out, and a concerned gene list is output. According to the method, efficient structured input and standardization of clinical information are realized, the accuracy and automation level of phenotype-gene matching are remarkably improved, the gene variation interpretation period is effectively shortened, and intelligent support is provided for precise diagnosis of genetic diseases.

The invention relates to the field of gene detection, and particularly discloses a gene detection device and method applying Beidou satellite positioning, and the device comprises a sample collection and preprocessing module which is used for obtaining a body fluid or tissue biological sample of a user, and carrying out cell lysis, DNA / RNA extraction and purification operation on the sample; the gene sequencing analysis module is connected with the sample collecting and preprocessing module and is used for performing gene sequencing on the purified nucleic acid sample and identifying gene variation information related to tumors; the high-precision positioning capability of the Beidou system is utilized to obtain the environmental parameters of the geographic position of the user in real time, then the genetic variation data and the regional environmental carcinogenic factors are subjected to weighted fusion analysis through the risk assessment algorithm, and finally a highly personalized detection report is generated. In this way, the detection result can truly reflect the specific influence of the external environment on the individual health, and the accuracy and practicability of the report are remarkably improved.

The application belongs to the technical field of gene detection, and discloses a method and system for judging the influence of homologous regions in NGS gene variation detection. The method comprises the following steps: obtaining a first type of gene and a plurality of second type of genes according to a public database; obtaining corresponding original sequence files of the first type of gene and the second type of gene based on a local gene database, obtaining corresponding sequence alignment files based on a local BAM database, and combining them to obtain known NGS gene data; calculating the GC content, the proportion of repeat units, and the similarity ratio in the original sequence file, and calculating the alignment quality in the corresponding sequence alignment file to construct a training sample; inputting the training sample into a classification model to obtain an optimized classification model; extracting the GC content, the proportion of repeat units, the similarity ratio, and the alignment quality from the NGS gene data to be detected and inputting them into the optimized classification model to judge whether the variation detection is affected. The application can judge the influence of homologous regions in variation detection without the aid of prior information of homologous regions.

Described herein are methods for making genetically modified cells by introducing combinations of genetic variants (designed or random) or constructs (genes or otherwise arbitrary DNA) into a population of cells, and for tracking each variant combination by sequentially building an array of barcodes at a common locus (chromosomal or plasmid), termed the barcode locus. Also described are the cells made by such methods.

Systems and methods herein provide for rapid patient information to healthcare providers such that the healthcare providers can make more informed diagnoses. One method includes storing gene sequencing data and called genetic variants of a patient in a data structure. The method also includes receiving a request from a healthcare provider for results of a test that reports at least a portion of the called genetic variants in relation to a diagnosis of the patient by the healthcare provider, and delivering the results of the test to the healthcare provider if a quality control value of said at least a portion of the called genetic variants meets or exceeds a predetermined threshold of quality for assisting the healthcare provider.

Disclosed are methods, systems and computer-program products for the determination of complex genetic variants. The disclosed methods, systems and computer-program products may include obtaining a mutant scaffold nucleotide sequence that comprises a sequence that includes mutations characteristic of the complex genetic variant; obtaining a wild-type scaffold nucleotide sequence having a wild-type sequence; generating an alignment of at least one sequence from the sample to the mutant scaffold and to the wild-type scaffold; and determining that the sample contains a mutation characteristic of the complex genetic variant based on alignment to the mutant scaffold and not the wild-type scaffold.

The present invention relates to a gene variant of the transcriptional regulator LysG and a method for producing L-citrulline or L-arginine using same. The gene variant of the transcriptional regulator LysG according to the present invention has protein activity that is altered due to the mutation of one or more bases in the base sequence of a gene encoding the transcriptional regulator LysG, and thus, it is possible to effectively produce L-citrulline or L-arginine from a recombinant microorganism comprising the variant.

An apparatus for generating personalized risk assessments for neurodegenerative diseases includes a computing device that receives user data containing genetic and medical information. It processes the data to create genotype identification and gene detection modules, identifying user genotypes and relevant genetic markers. The user's mitochondrial haplogroup is examined to refine the assessment. A risk calculation module employs machine learning to weigh genetic variants against population-based data, calculating a polygenic risk score (PRS). The PRS forms a personalized risk profile, displayed through a visual interface. The disclosed systems offer a comprehensive approach to accurate risk assessment, enabling targeted interventions and informed decision-making in neurodegenerative disease management.

Presented herein are methods for mapping the effects of gene variants using high throughput sequencing and machine learning to determine the pathogenicity of each variant

This invention belongs to the field of biopharmaceuticals and relates to a gene therapy drug for hereditary retinal dystrophy related to RLBP1 gene mutations and its application. Specifically, it involves constructing a recombinant AAV-RLBP1 gene therapy drug, which is then injected intravitreally to infect retinal pigment epithelial cells and Müller cells, causing them to express complete and active RLBP1 protein. This invention utilizes a modified AAV vector to package codon-optimized human RLBP1-cDNA, enabling the expression of complete and active RLBP1 protein, which participates in the visual circulation pathway, rescuing retinal dysfunction caused by pathogenic mutations in the RLBP1 gene, improving visual function in patients, or delaying disease progression.

The invention relates to a primer, a probe composition and a kit for detecting variation sites of KMT2D genes of the Pantoea syndrome, and provides three types of KMT2D gene mutation sites found for the first time so as to enrich the variation spectrum of the KMT2D genes, the three types of variation sites are respectively the variation sites of the KMT2D genes c.3247dup, c.1101611019del and c.15545del, and the variation spectrum of the KMT2D genes is enriched by using the primer, the probe composition and the kit for detecting the variation sites of the KMT2D genes of the Pantoea syndrome, namely the mutation sites of the KMT2D genes of the Pantoea syndrome, of the KMT2D genes of the Pantoea syndrome, of the Pantoea syndrome. Meanwhile, the invention also provides a primer, a probe composition and a kit for detecting the variation site of the KMT2D gene of the Pansheng syndrome. The primer, the probe composition and the kit are used for screening or diagnosing the Pansheng syndrome. The mutation sites are proved to be new pathogenic mutations related to the Pansher syndrome, the KMT2D gene pathogenic variation spectrum is expanded, the kit can comprehensively cover the three new pathogenic variation sites of the KMT2D gene related to the Pansher syndrome, and the three pathogenic variation sites found for the first time can be specifically and accurately detected.

This disclosure is in the field of cardiac diseases. For example, the disclosure provides a new platform comprising iPSC and cardiomyocytes carrying one or more gene mutations, and models to study the effect of those gene mutations on cardiomyocytes, and on drug toxicity. This platform is identified herein as PREDICT PLATFORM.

The invention belongs to the technical field of bioinformatics, and discloses a molecular marker screening method and device based on sequencing, equipment and a storage medium. Sample sequencing data is obtained for quality control processing to obtain clean sequencing data, and gene variation sites are obtained through detection; analyzing to obtain a target gene expression map; carrying out weighted gene co-expression network analysis to obtain an analysis result; carrying out co-expression analysis, constructing a miRNA-gene molecule interaction network, carrying out topology analysis on the miRNA-gene molecule interaction network, and identifying key nodes; and finally, according to the gene variation site, the target gene expression map, the analysis result and the key node of the miRNA-gene molecular interaction network, combining with a machine learning algorithm to calculate the importance score of each candidate marker, and obtaining a specified number of candidate markers with top scores and the combination thereof as a target marker. Therefore, the potential efficiency of the marker can be comprehensively evaluated in multiple dimensions, and the specificity and sensitivity of the screened marker are further improved.

The invention relates to a genetic variation category prediction method and device based on convex hull geometric constraint, and relates to the fields of bioinformatics, artificial intelligence, applied mathematics and the like, and the method comprises the steps: obtaining multi-modal data corresponding to target genetic variation, including a target variation DNA sequence, a target reference DNA sequence and target semantic text information; performing feature extraction on the multi-modal data through the trained gene variation category prediction model, and predicting the category of target gene variation; wherein loss functions adopted in the model training process comprise a classification loss function used for indicating the difference between a prediction category and a real category, the convex hull geometric constraint loss function is used for indicating the concentration degree of the same type of gene variation corresponding to the distribution range of the feature space and the separation degree of different types of gene variation corresponding to the distribution range of the feature space. According to the invention, based on multi-modal feature fusion and convex hull geometric constraint, efficient and accurate prediction of the gene variation category is realized.

The invention relates to a multiplex fluorescent quantitative PCR (polymerase chain reaction) primer, a probe and a kit for detecting neurofibroma I type NF1 gene variation sites, and provides four NF1 gene mutation sites found for the first time, the four variation sites are NF1 gene c.21002105delinsAG, c.4561dup, c.6421del and c.6797dup variation sites respectively, and the mutation sites of the NF1 gene c.21002105delinsAG, the c.4561dup, the c.6421del and the c.6797dup can be used for detecting neurofibroma I type NF1 gene mutation sites. Meanwhile, the invention also provides a specific primer, a probe composition and a kit for detecting the NF1 gene variation site of the neurofibromatosis I type for screening or diagnosing the neurofibromatosis I type. The NF1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of the neurofibroma type I. The kit disclosed by the invention can comprehensively cover four new pathogenic variation sites of the NF1 gene related to the neurofibroma type I, is high in accuracy, and can specifically detect the pathogenic variation sites.

The invention discloses a multiple myeloma sequencing method based on a targeted capture three-generation sequencing technology, a kit and application, and relates to the technical field of gene detection, and the method comprises the steps of sample treatment, targeted probe group design and targeted enrichment capture, three-generation sequencing library preparation, bioinformatics analysis and the like to identify and analyze three types of variations. According to the method, the defects that an existing layered system lacks an accurate genomics basis, and FISH and NGS technologies and combination strategies are low in flux, incomplete in coverage, incapable of synchronously detecting various variations, high in cost and complex in process are overcome, comprehensive information of three key variation types of multiple myeloma SNV, SV and CNV can be obtained at the same time through a single experiment and one-time sequencing, and the method is suitable for popularization and application. The detection efficiency is improved, and sample consumption, operation time and cost are reduced; all hot spot areas and translocation breakpoint areas of the most important clinical related genes of the MM are covered, and a gene variation map which is more comprehensive than that of a standard FISH Panel is provided.

The disclosure relates to analysing genetic data. In one arrangement, a method operates on input data comprising strengths of association between one or more phenotypes including a target phenotype and a plurality of genetic variants. A fine-mapping algorithm is applied to all or a subset of the input data to identify one or more independent phenotype-variant associations. A set of one or more fine-mapped variants is identified for each association. A fine-mapping predictive model is calculated on the basis of the input data and the set of fine-mapped variants. The effect on the target phenotype of the set of fine-mapped variants is subtracted from the input data to obtain residual association data. A machine learning algorithm is applied to the residual association data to identify further predictive correlations between the target phenotype and the plurality of genetic variants.

Provided herein are computer-implemented methods for assigning maternal or fetal origin to one or more genetic variants in cell free DNA (cfDNA) from a sample from a pregnant mammal, preferably a pregnant human, using a probabilistic model for assigning maternal or fetal origin to genetic variants in DNA from a sample obtained from a pregnant mammal, wherein the model assigns maternal or fetal origin based on a combination of fetal fraction and DNA fragment size.

The invention relates to a method for detecting changes of nucleotide sequences by using an isothermal nucleic acid amplification technology, a primer set for detecting selected genetic variants and components of a reaction mixture.

The present invention relates to a vascular endothelial growth factor (VEGF) inhibitor for use in the treatment of wet macular degeneration, wherein the VEGF inhibitor is adapted to be administered intravitreally to a patient, wherein the patient has previously been treated intravitreally with the VEGF inhibitor for approximately one year, and has one or more genetic variants that are single nucleotide polymorphisms selected from rs2106124, rs1879796, rs12148845, rs12148100, rs17482885, and rs17629019.

Systems and methods for generating a graph describing cross-species relationships between gene variants associated with two or more species are provided herein. The techniques include obtaining data generated by first genomic studies of a first species and second genomic studies of a second species, the data including a plurality of datasets including two or more data formats. A subset of the data is stored in a cache and then transformed into a database having a uniform data format, the database describing graph objects and connections between the graph objects. The database is built by iteratively caching and transforming subsets of the data, each transformed subset being stored in non-transient computer-readable memory. The graph is then generated using the database.

Bag3 is a multifunctional protein expressed predominantly in the heart, the skeletal muscle, the central nervous system and in many cancers. Although BAG3 was cloned only a decade ago, studies have shown that genetic variants, particularly those that result in haplo-insufficiency, can lead to severe left ventricular dysfunction; however, the full mechanisms responsible have remained obscure. To obviate the influence of heart failure itself on the biology of Bag3, transgenic mice harboring a single allele knock-out were studied between 8 and 10 weeks of age before any obvious signs of heart failure were evident. The results were surprising and informative. First, it was found that despite a normal phenotype, young Bag3+ / − had marked changes in the proteome that were characterized by changes in proteins associated with metabolism and apoptosis. Consistent with this finding, a decrease in the levels of critical proteins charged with maintaining the mitochondrial membrane potential was observed. It was also found that young mice shifted from a balance between the extrinsic and intrinsic pathways of apoptosis. However, in the presence of stress and the absence of Bag3 there was a shift from a balanced to an extrinsic dominant system (cleaved caspase 8). The diverse array of critical pathways regulated by Bag3 suggests a more important role especially during stress and that this role might include serving as an intracellular glue that holds proteins where they can be most effective rather than having them meet accidentally.

The invention provides a multiplex PCR (polymerase chain reaction) primer combination and a sequencing analysis method for identifying a species of Schizothorax mali, and belongs to the technical field of molecular detection. According to the multiple PCR primer combination disclosed by the invention, a plurality of primer pairs are designed according to multiple key gene SNP locus areas of mitochondrial genomes (imagoes, larvae and pupae) of different forms and different populations and sibling species of the mitochondrial genomes, so that a plurality of target fragments can be synchronously amplified by single PCR reaction; the misjudgment caused by single gene variation or sequencing errors is effectively avoided, and the sibling species and the cryptic species with highly similar forms can be accurately distinguished. The invention further provides a multiple PCR and sequencing analysis method for identifying the species of the malodinia mali, targeted high-throughput sequencing is conducted on multiple PCR amplification products, sequence information of all key sites is obtained, the similarity of the sites to be detected can be obtained through comparison, and decisive data support is provided for high-throughput accurate identification of the species level of the malodinia mali.

The present application relates to a gene variation function influence prediction method based on multi-scale deep learning fusion, comprising: data preprocessing of gene sequence data, constructing a data set; inputting the data in the data set into a preset deep learning model, training the model, and obtaining a prediction model; inputting the preprocessed gene sequence data to be detected into the prediction model for gene variation function prediction. The present application combines the feature extraction advantages of convolutional neural network and bidirectional long short-term memory network, realizes accurate prediction of gene variation function through multi-scale feature fusion and dynamic optimization strategy, and is suitable for sequence analysis and genome function research in bioinformatics research.

Methods for detecting a short genetic variant in a test sample are described herein. In some exemplary methods, the short genetic variant is called using one or match scores, which are determined using one or more sequencing data sets obtained from a test nucleic acid molecule, wherein the test sequencing data sets are determined by sequencing the test nucleic acid molecule using non-terminating nucleotides provided in separate nucleotide flows according to a flow-cycle order. Also described herein are methods of sequencing a test nucleic acid molecule using two or more different flow-cycle orders and / or extended flow cycle orders having five or more nucleotide flows per flow cycle.

This invention discloses a method and system for selecting functional gene variant sites, relating to the field of gene site selection. The method includes: acquiring chromatin accessibility distribution information across the entire genome; performing convolutional block transformation based on the accessibility distribution information to obtain accessibility feature values; determining genomic information across the entire genome based on regulatory maps; determining an initial weight value set based on the accessibility feature values ​​and genomic information; the initial weight value set is a set of initial weight values ​​corresponding to each of the accessibility feature values ​​and genomic information; inputting the accessibility feature values, genomic information, and the initial weight value set into a site selection model, and outputting selected functional gene variant site information and regulated susceptibility gene information; the selected functional gene variant site information includes: site variant bases that meet set threshold conditions and their corresponding site coordinates; this invention can improve the selection efficiency of functional gene variant sites.

The present invention relates to a method for detecting a first nucleic acid sequence in a biological sample, wherein the biological sample contains a second nucleic acid sequence that competes for detection of said first sequence.