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219 results about "Genomics" patented technology

Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.

Machine learning architecture for modeling local and global features

Deep learning tools such as convolutional neural networks (CNNs) and transformers have spurred great advancements in computational biology. However, existing methods are constrained architecturally in context length, computational complexity, and model size. This application introduces a sub-quadratic architecture for modeling, which combines projected gated convolutions and structured state spaces to achieve local and global context with, for example, single-nucleotide resolution. These models outperform CNN-, GPT-, BERT-, and long convolution-based models in many tested genomics tasks without pre-training and with 4×-781× fewer parameters. In the proteomics domain, these models similarly outperform pretrained attention-based models, including ESM-1B and TAPE-BERT, on remote homology prediction without pre-training and while using 3,308×-23,636× fewer parameters.
Owner:MASSACHUSETTS INST OF TECH +2

Integration of radiologic, pathologic, and genomic features for prediction of response to immunotherapy

Presented herein are systems, methods, and non-transient computer readable media for determining predicted response scores of subjects. A computing system may identify a first feature set for a first subject to be administered with immunotherapy to address a condition. The first feature set may include one or more of: (i) a first radiological feature identified in a tomogram of a section associated with the condition in the first subject, (ii) a first immunohistochemistry (IHC) feature derived from an image of a sample associated with the first subject, and (iii) a first genomic feature obtained from gene sequencing of the first subject for genes associated with the condition. The computing system may apply the first feature set to a model. The computing system may determine, from applying the first feature set to the model, a predicted score identifying a response to the immunotherapy to be administered to the first subject.
Owner:MEMORIAL SLOAN KETTERING CANCER CENT +2

Method and system for predicting venous thromboembolism risk of lung cancer patient

The invention relates to the field of medical information technology and medical data analysis, in particular to a VTE risk prediction method and system based on multi-modal data fusion and dynamic risk modeling, and the system comprises a first feature extraction module, a second feature extraction module, a two-stage risk assessment module and a final risk judgment module. According to the application, through integration of clinical diagnosis and treatment, iconography and genomics data, a deep learning algorithm, a dynamic weight adjustment mechanism and a graph neural network technology are utilized to realize accurate prediction of the VTE risk of the active-stage lung cancer patient. And meanwhile, the problem of cross-mechanism data distribution difference is solved by adopting transfer learning, and the generalization ability of the model is improved. The method can significantly improve the prediction accuracy, reduces the manual intervention demands, and optimizes the medical resource distribution efficiency.
Owner:CHINA JAPAN FRIENDSHIP HOSPITAL

System and method for predicting effective and safe drug therapy

PCT designated stageWO2025217460A1Medical data miningHealth-index calculationGenomicsDrug profile
Various methods and systems for efficiently providing pharmacogenetic guidelines is disclosed. A drug prescription and a patient genotype can be analyzed to provide a drug therapy recommendation. The analysis can include comparing the patient genotype and the drug name to a drug profile database, a molecular biomarker database, hospital drug reaction records and omics databases, and calculating the patient response to the drug.
Owner:PGXAI INC

Adapted multi-modal sequence generation neural networks for performing medical tasks

Methods, systems, and apparatus, including computer programs encoded on computer storage media, for using an adapted multi-modal sequence generation neural network, e.g., a multi-modal language model neural network, to perform medical tasks. For example, the image encoder neural network of the multi-modal sequence generation neural network can be fine-tuned to encode two-dimensional medical images to allow the neural network to perform medical tasks that require reasoning about two-dimensional medical images. As another example, the video encoder neural network of the multi-modal sequence generation neural network can be fine-tuned to encode volumetric medical images to allow the neural network to perform medical tasks that require reasoning about volumetric medical images. As another example, the image encoder neural network of the multi-modal sequence generation neural network can be fine-tuned to encode non-image medical data, e.g., genomics data, to allow the neural network to perform medical tasks that require reasoning about non-image medical data.
Owner:GOOGLE LLC

Methods, compositions and systems for identifying variant target molecules of interest

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.
Owner:PLENO INC

Radiosensitivity and toxic and side effect detection system based on multiple omics

The invention discloses a radiotherapy sensitivity and toxic and side effect detection system based on multiple omics, and relates to the technical field of radiotherapy, and the system comprises the steps: obtaining genomics data, proteomics data and metabonomics data of a patient at different stages, and generating a patient multi-omics time series data set; based on the patient multi-omics time sequence data set, extracting patient multi-omics time sequence features, and constructing a patient radiotherapy sensitivity dynamic prediction model; combining clinical manifestation and treatment history in clinical data of the patient, generating an adversarial network by utilizing a cGAN condition, generating toxicity simulation data under different radiotherapy doses, and establishing a patient toxic and side effect risk prediction model; and according to the patient radiotherapy sensitivity dynamic prediction model and the toxic and side effect risk prediction model, obtaining an optimal radiotherapy dose interval of the patient, and generating a patient personalized radiotherapy digital twinning scheme. The method has the beneficial effects that the treatment safety and effect of patients are improved, and the method has higher clinical application value and personalized treatment potential.
Owner:GUANGXI PRECISION MEDICINE TECH CO LTD

Apostichopus japonicus whole genome liquid phase chip and application thereof

PendingCN121951081ABreeding targets a wide range of traitsMicrobiological testing/measurementBiotechnologyGenomics
The invention relates to the technical field of genomics, molecular biology, bioinformatics and whole-genome selective breeding, in particular to a whole-genome liquid chip for apostichopus japonicus and application of the whole-genome liquid chip. The liquid phase chip contains sequences of background SNP loci and functional SNP loci which are used for gene analysis and are positioned on an apostichopus japonicus reference genome; wherein the functional SNP sites are associated with important economic characters of the apostichopus japonicus. The invention also discloses application of the liquid chip in apostichopus japonicus genome selective breeding, important economic character gene positioning, genetic diversity analysis, germplasm resource improvement and protection.
Owner:INST OF OCEANOLOGY - CHINESE ACAD OF SCI

Methods for distinguishing lung cancer from non-cancer

Described herein are methods such as multi-omic methods for assessing a disease such as cancer. The multi-omic methods may integrate proteomic, transcriptomic, genomic, lipidomic, or metabolomic data. The method screening diseases or disease states. Also described herein are methods for screening for diseases or disease states from biological samples. The methods may include assessing whether a nodule, mass, or cyst is cancerous.
Owner:PROGNOMIQ INC

Systems, devices and methods for personalized medicine in pharmacogenomics

PendingUS20250349383A1BiostatisticsProteomicsGenomicsPharmacogenomics
Described herein are computer-implemented systems, methods, and devices for pharmacogenomic determination. The system includes a data processor configured to receive pharmacogenomic data representing at least one pharmacogenomic annotation in association with at least one gene; a database configuration engine configured to receive at least one genomic variation of the at least one gene and to search the pharmacogenomic data for at least one association with each genomic variation to return the associated data, the associated data being a haplotype or diplotype and a phenotype; a report generator configured to generate at least one report comprising the associated data with the genomic variation associated.
Owner:MYENGENE INC

Acute myelogenous leukemia prognosis prediction method and device based on multi-omics fusion

The invention discloses an acute myelogenous leukemia prognosis prediction method and device based on multi-omics fusion, and the method comprises the steps: collecting and preprocessing gene mutation data and gene expression data to construct a data set; constructing an acute myelogenous leukemia prognosis prediction model, and training by using the data set; inputting the preprocessed gene mutation data and gene expression data as genomics data and transcriptomics data into the trained prediction model to obtain a risk score of prognosis prediction; wherein the two shared encoders in the model share part of parameters, two modal features extracted by the two shared encoders are subjected to CLIP-based feature alignment, and features extracted by the private encoder and the shared encoder of each modal are subjected to feature decoupling. According to the method, complementarity and synergy of genomics and transcriptomics data are fully mined through a layered feature decoupling and dynamic fusion mechanism, and the prognosis prediction accuracy of the acute myelogenous leukemia patient is improved.
Owner:ZHEJIANG LAB

Marker screening and model building method for precise evaluation of parent genome breeding value

The invention discloses a marker screening and model building method for precise evaluation of parent genome breeding values, and belongs to the technical field of molecular breeding and genomics. The method comprises the following steps: acquiring genetic typing data and target character phenotype data of a reference group, and performing digital coding; calculating a secondary allele frequency (MAF) and a linkage imbalance score (LD score) of each marker site; based on the joint screening rule of the MAF and the LD score, screening to obtain a core marker subset with relatively high genetic stability and linkage structure representativeness; and constructing a differentially weighted genome prediction model based on the core marker subset to estimate the genome breeding value of the parent individual. According to the method, allele frequency information and linkage imbalance structure information are jointly utilized, interference of low-frequency or weak linkage sites on the prediction model is reduced, the prediction accuracy of parent breeding values in cross-generation predictor representative types is improved, and the method is suitable for genome prediction and molecular breeding of complex characters.
Owner:OCEAN UNIV OF CHINA

A whole genome 20k liquid breeding chip for apostichopus japonicus and application thereof

PendingCN122279058ABiotechnologyGenomics
This invention relates to the fields of genomics, molecular biology, bioinformatics, and genome-wide selection breeding, specifically a 20k liquid-phase breeding chip for the whole genome of *S. esculenta* and its applications. The liquid-phase chip contains background SNPs and functional SNPs located on the *S. esculenta* reference genome; wherein the background SNPs are uniformly distributed within the genome; and the functional SNPs are associated with important economic traits of *S. esculenta*; these important economic traits include one or more of the following: saponin content, polysaccharide content, and heat tolerance. The chip can be applied to the assessment of genetic diversity in *S. esculenta*, identification of germplasm resources and phylogenetic relationships, genome-wide association analysis of important economic traits, and genome-wide selection breeding. This chip has advantages such as high throughput, high region coverage, high locus detection rate, and high flexibility, providing powerful tool support for molecular breeding of *S. esculenta*.
Owner:INST OF OCEANOLOGY - CHINESE ACAD OF SCI

Compositions and methods for rapid targeted amplification of genomic regions, sequencing thereof, and analysis

PendingCN122319249AGenomicsRetinitis pigmentosa syndrome
Compositions and methods for detecting structural variations (SVs) in target genes or for genetic mapping of movable transposable elements are disclosed, the target genes relating to disease pathologies commonly found in large Mendelian genomics projects, and the movable transposable elements relating to genetic diseases, cancer, and aging. The method comprises: (i) contacting a sample containing genomic DNA with a DNA endonuclease for an effective amount of time to cleave the genomic DNA into fragments, the genomic DNA being uncrosslinked; (ii) subjecting the fragments obtained from step (b) to a DNA ligase to obtain circularized DNA; (iii) subjecting the circularized DNA to reverse PCR amplification containing a reverse primer, wherein the reverse primer is designed to match a expected wild-type sequence near a suspected mutant locus in the gene; and (iv) sequencing the amplified products. Exemplary conditions include Bardet-Biedel syndrome; severe upper and lower limb defects; retinitis pigmentosa; syndromic microcephaly; spastic paraplegia; and atypical hemolytic uremic syndrome.
Owner:KING ABDULLAH UNIV OF SCI & TECH

Network propagation-based personalized cancer driver gene identification method

The application provides a personalized cancer driver gene identification method based on network propagation, and the implementation steps are as follows: obtaining related data of cancer driver gene identification; performing data fusion on abnormal genomics data; constructing a cancer gene regulation network of a group; constructing a personalized cancer gene regulation network; calculating influence score of a node pair; and obtaining a personalized cancer driver gene identification result through a network propagation process. In the process of constructing the personalized cancer gene regulation network, statistical analysis is performed on the interaction between each pair of genes of each patient, so that the deviation of the network model caused by abnormal expression of a single gene in the prior art is avoided; and in the process of network propagation, various genomics data and topological information in the network are integrated, the information abundance in the network model is improved, and the accuracy of identifying personalized driver genes is effectively improved.
Owner:XIDIAN UNIV

Discovery, functional analysis, and diagnosis of colorectal adenoma and cancer biomarkers.

In various aspects and embodiments, the Disclosure provides methods for evaluating subjects for the presence or absence of colorectal neoplasms, such as colorectal cancer (CRC), colorectal adenoma (CRA), and progressive colorectal adenoma (CRAA), by metagenomic and multi-omics analysis of feces or other biological samples. In other aspects, the Disclosure provides methods for generating machine learning models or “signatures” based on metagenomic and multi-omics analysis of feces or other biological samples to evaluate subjects for the presence or absence of colorectal diseases, including but not limited to CRC, CRA, and CRAA.
Owner:PRESCIENT METABIOMICS JV LLC

Optical systems for nucleic acid sequencing and methods thereof

Fluorescence imaging system designs are described that provide larger fields-of-view, increased spatial resolution, improved modulation transfer and image quality, higher spatial sampling frequency, faster transitions between image capture when repositioning the fields-of-view, improved imaging system duty cycle and a more compact system, and thus enable higher throughput image acquisition and analysis for genomics and other imaging applications at a lower cost.
Owner:ELEMENT BIOSCIENCES INC

Primer group and kit for detecting genetic markers of 365 Y chromosomes and application of primer group and kit

The invention relates to the technical field of forensic genomics, in particular to a primer group and a kit for detecting genetic markers of 365 Y chromosomes and application of the primer group and the kit. According to the invention, an amplification primer group for specific 57 Y-STRs and 308 Y-SNPs of Chinese population is optimally designed, and a joint detection method with high sensitivity and high resolution is constructed. Y-STR haplotype analysis and Y-SNP haplogroup accurate typing can be synchronously realized, and the problems of high family checking false positive rate, insufficient geographic ancestor inference resolution and the like caused by single site type detection in the traditional technology are solved. The method is suitable for diversified biological samples such as blood, seminal stains and saliva, and provides a novel technical scheme of high-throughput, low-cost and multi-dimensional paternal genetic information analysis for forensic practice. Comprising construction of a Y-STR and Y-SNP composite amplification system based on next-generation sequencing and application of the Y-STR and Y-SNP composite amplification system in forensic medicine individual recognition, family investigation and biogeography ancestor inference.
Owner:SHANDONG FIRST MEDICAL UNIV & SHANDONG ACADEMY OF MEDICAL SCI

Three-dimensional visual functional gene browser and system based on z-closed loop encoding

The application belongs to the field of biological information visualization, and discloses a three-dimensional visualization functional gene browser and system based on Z series closed loop coding, which solves the problems of track disorder, arc winding, dependence on scaling and incomplete coding of existing tools. The application constructs Z series closed loop coding, packs genes and non-gene regions into Z0~ZN units, and adapts repeat sequences and ring chromosomes. L-X-Y three-dimensional coordinates are established, 65 standardized character libraries are constructed, and amino acids are labeled in a six-color degenerate system. Modular labeling is adopted, continuous functional elements are integrated into M modules, three types of background colors are used to classify levels, the trunk area and the independent labeling area are displayed separately, and tracks and arcs are abandoned. The system supports Z unit addressing, three-level interaction, module linkage, variation marking, Hi-C double-end alignment and reverse complementary strand switching, realizes full-link visualization from whole genome to single base, and is suitable for genomics and clinical variation analysis.
Owner:江典秋

Forest tree cross parent accurate matching method based on multi-omics analysis

The invention relates to the technical field of forest tree hybridization, and discloses a forest tree hybridization parent precise matching method based on multi-omics analysis, which comprises the following steps: S1, obtaining multi-omics data: performing genome sequencing, transcriptome analysis, proteomics analysis and metabonomics analysis on forest tree population individuals; a plurality of omics data such as genetic variation sites, gene expression quantity, protein expression abundance and metabolite spectrums are obtained. According to the forest tree cross parent accurate matching method based on multi-omics analysis, forest tree genetic characteristics are analyzed comprehensively through multi-omics data, genomics, transcriptomics, proteomics and metabonomics data are deeply fused, genetic factors closely associated with target traits are accurately identified, and the accuracy of forest tree cross parent matching is improved. According to the method, the scientificity of parent matching in forest tree cross breeding on the molecular level is remarkably improved, the fuzziness and uncertainty of traditional judgment only according to phenotype and experience are abandoned from the source, the parent matching accuracy is greatly improved, and the breeding work is more targeted and efficient.
Owner:INST OF FORESTRY CHINESE ACAD OF FORESTRY

Method for increasing chromatin DNA accessibility in cells and uses thereof

The application discloses a method for improving chromatin DNA accessibility in cells and application thereof, relates to the technical field of gene sequencing and tissue cell sample analysis, and comprises the following steps: providing a sample to be detected; mixing the sample to be detected with an alcohol reagent to permeabilize cells and expose heterochromatin regions of the sample to be detected, so as to obtain a pretreated sample; performing fragmentation treatment on DNA of the pretreated sample, performing reverse transcription reaction on RNA in the pretreated sample, performing labeling on the fragmented DNA and the cDNA after the reverse transcription reaction, and separating labeled genomic DNA and cDNA; and performing library construction and sequencing on the fragments of the labeled genomic DNA and the cDNA product respectively, so as to obtain single-cell genomic information and transcriptome information of the sample to be detected. The alcohol reagent can open the heterochromatin without bias to obtain more nucleic acid fragments, improve the sensitivity of single-cell genome detection, does not affect RNA detection, and realizes high-throughput double-omics analysis of single-cell whole-genome DNA and RNA.
Owner:BEIJING SEEKGENE BIOSCIENCES CO LTD

Facial prediction model construction method, facial prediction method and related device

The application relates to the technical field of face prediction, and is a face prediction model construction method, a face prediction method and related devices.The method comprises the following steps: acquiring a training set, a test set and a verification set; each sample in the training set, the test set and the verification set comprises genomics features and real facial morphology features; a training number is set; a preset artificial neural network model is trained multiple times according to the training number and the training set; a plurality of face prediction standby models corresponding to the training are obtained; the verification set is predicted by using the obtained plurality of face prediction standby models; the optimal parameters are selected; and a face prediction model is output. Compared with the prior art, the application is cleaner in sample extraction, the sample quantity is improved, the model prediction obtained through training is more accurate, and furthermore, the application adopts neural network modeling, and the test set and the verification set are used for evaluating and analyzing the face prediction model, so that the prediction accuracy and precision of the model are improved.
Owner:SHANGHAI FEIBAO INTELLIGENT TECH CO LTD

Imaging systems and methods for particle-driven, knowledge-based, and predictive cancer radiogenomics

Described herein are particle-driven radiogenomics systems and methods that can be used to identify imaging features for prediction of intratumoral and interstitial nanoparticle distributions in cancers (e.g., in low grade and / or high-grade brain cancers (e.g., gliomas, e.g., primary gliomas)). In certain embodiments, the systems and methods described herein extract and combine quantitative multi-dimensional data generated from structural, functional, and / or metabolic imaging. In certain embodiments, the combined multidimensional data is linked to intratumoral and interstitial nanoparticle distributions. For example, this linked data can be used to determine quantitative functional-metabolic multimodality particle-based imaging features and to predict treatment efficacy. These techniques provide an improved quantitative ability to measure treatment response and determine tumor progressions compared to traditional size-based imaging methods.
Owner:MEMORIAL SLOAN KETTERING CANCER CENT +1

SNP phenotype prediction method based on deep learning

The invention discloses an SNP phenotype prediction method based on deep learning, and relates to the technical field of data processing, and the method comprises the following steps: S1, obtaining SNP genotype data of a VCF file, and generating a double-character coding sequence; s2, constructing an SNP (Single Nucleotide Polymorphism) basic model; s3, based on the double-character coding sequence, training the SNP basic model; and S4, performing phenotype prediction by using the trained SNP basic model. According to the method, the pre-training thought of deep learning is utilized to directly perform SNP phenotype prediction, starting from genomic sequence features, the BERT architecture is further extended to the field of genomics, and a more direct and efficient calculation method is provided for phenotype prediction.
Owner:CHINA AGRI UNIV

A method and system for determining the chromosome base number of macrobrachium rosenbergii based on multi-omics joint analysis

The present application belongs to the field of biotechnology and genomics, and particularly relates to a method and system for determining the chromosome base number of Macrobrachium rosenbergii based on multi-omics joint analysis. The method obtains de novo assembly sequencing data and Hi-C sequencing data, generates a chromosome-level candidate assembly without presetting the number of chromosomes by using Hi-C interaction signals after primary assembly, and performs whole-genome collinearity alignment with no less than two published reference genomes; in combination with quality constraints such as collinearity continuity, Hi-C boundary characteristics and BUSCO / LAI, the candidate chromosome boundary is comprehensively judged and iteratively converged, and finally the chromosome base number and reviewable evidence chain are output. The embodiments show that the present application can identify and correct the number redundancy caused by over-splitting of the reference genome, determine the base number of Macrobrachium rosenbergii as n=57 (2n=114), and improve the objectivity and reliability of base number determination.
Owner:ZHEJIANG DANSHUI FISHERY RESEARCH INSTITUTE (ZHEJIANG DANSHUI FISHERY ENVIRONMENTAL MONITORING STATION)

Ackermania muciniphila strain and application thereof

The invention belongs to the field of microorganisms and medicine health care, and relates to an ackermania muciniphila strain and application thereof, the preservation number of the ackermania muciniphila strain is CGMCC (China General Microbiological Culture Collection Center) No.34370, and a 16SrDNA (Deoxyribose Nucleic Acid) sequence of the ackermania muciniphila strain has 93% similarity with a sequence shown as SEQ ID NO: 1. The new ackermania muciniphila strain (AKKBC300) is separated from a healthy human body and has good safety; good tolerance to low pH value and bile salt is shown in vitro, and it is indicated that the compound can reach the intestinal tract through the upper digestive tract and play a role; according to the present invention, genomics analysis results prove that the bacterial strain contains the gene Akkermansia BC00573 with high homology with the known probiotic functional protein Amuc1100, such that the molecular basis is provided;
Owner:SHENZHEN BEICHEN BIOTECH CO LTD

Trait prediction coordination for genomic application environment

Systems and methods are provided for trait prediction coordination. One embodiment is a method that includes launching a genomics application at a user device, receiving a command to present a partner application within the genomics application, selecting characteristics to predict for an individual, based on an identifier that distinguishes the partner application from other partner applications, operating polygenic models that generate predictions for the characteristics based on genetic records for the individual, acquiring media for the partner application, based on the predictions, and operating the partner application to update a display at the user device with the media, thereby providing the predictions in a format specific to the partner application.
Owner:HELIX INC

Integration of evolutionary, molecular and clinical data for prognostic modelling of clinical outcomes in neoplastic diseases

The present invention provides a computer implemented method for the prediction of clinical outcomes in patients with cancer or pre-neoplastic conditions through the integration of genomic evolutionary, genomic and clinical. More specifically, the invention provides systems and algorithms that generate prognostic and predictive models based on the combined analysis of molecular features, inferred evolutionary routes, and clinical parameters, enabling patient risk stratification and individualized outcome estimation.
Owner:UNIV DEGLI STUDI DI MILANO BICOCCA +2

Methods for detecting cpg methylation of tumor-derived DNA in blood samples

PendingUS20250333796A1Microbiological testing/measurementGenomicsPharmacogenomics
The present invention relates to the field of pharmacogenomics and in particular to detecting the presence or absence of methylated ANKRD13B and / or FOXF2 DNA derived from a tumor in blood or blood-derived samples or in other body fluids that contain DNA released from a tumor. This detection is useful for a minimally invasive diagnosis of cancers and the invention provides methods and oligonucleotides suitable for this purpose.
Owner:NEW DAY DIAGNOSTICS LLC