23 results about "Disease phenotype" patented technology

This invention discloses a method, medium, and device for identifying DRG over-compensation based on invoice reverse engineering and causal imprinting. The method includes: acquiring detailed medical billing data from the medical records to be audited; extracting features of treatment items and mapping them to a medical knowledge graph to obtain a set of feature atoms; inputting the feature atom set into a large language model, outputting real disease phenotypes as pseudo-labels, and performing semantic comparison with the reported primary diagnosis to identify over-compensation of the primary diagnosis; classifying the sensitivity of other reported diagnoses by score, screening high-value complication entities, and verifying their resource consumption matching degree through a clinical pathway constraint library to identify fictitious complications; extracting the main billing items and their low-value billing imprint rule library, and identifying falsely inflated primary intervention items through counterfactual causal comparison; finally, calculating a comprehensive anomaly index based on deviation, matching degree, and divergence, and outputting an audit report. This invention automatically identifies DRG over-compensation anomalies from multiple dimensions, improving the accuracy and comprehensiveness of audits.

A method for identifying cell subpopulations associated with disease phenotypes, belonging to the biomedical field. To identify cell subpopulations associated with disease phenotypes, this invention collects single-cell RNA sequencing data of the disease to obtain a single-cell expression matrix, collects the bulk expression matrix of the disease and corresponding phenotypic tags, and downloads human protein-protein interaction data to construct a protein-protein interaction network; extracts gene signature features of cells and samples and maps them to the protein-protein interaction network to form corresponding cell modules and sample modules; calculates the distance between each cell module and each sample module, and determines a set of multiple sample modules as the sample module set of the disease phenotype; calculates the distance between cell modules and the sample module set of the disease phenotype; creates a background distance distribution to evaluate the statistical significance of the distance between cell modules and the sample module set of the disease phenotype, and identifies cells whose distance to the sample module set of the disease phenotype is significantly smaller than the background distance distribution.

The invention belongs to the technical field of gene engineering, and particularly relates to a construction method of a ribosomal disease zebrafish model. The invention provides a construction method of a ribosomal disease zebrafish model, which comprises the following steps: directionally mutating a pno1 gene in a wild zebrafish embryo to obtain F0-generation zebrafish; mating the F0-generation zebrafish with wild type zebrafish, and screening out positive heterozygote F1-generation zebrafish from birth zebrafish as the ribosomal disease zebrafish model. The zebrafish mutant is constructed through the targeted ribosomal factor gene, multi-system phenotypes of hematopoietic system defects, skeletal insufficiency and digestive system dysplasia can be reproduced at the same time, the problem that in the prior art, disease phenotypes are incomplete is solved, and the zebrafish mutant can be widely applied to pathogenesis research and drug screening of ribosomal diseases and has a wide application prospect. An important platform is provided for developing a novel treatment means.

The present application relates to a kind of difficult culture pathogen resistance identification method and its application, belong to the field of agriculture and forestry science, step 1: the culture screening of toxic source plant, plant to be identified and indicator plant;Step 2: grafting transmission, the toxic source plant screened only with difficult culture pathogen, the plant to be identified without difficult culture pathogen and indicator plant are arranged in position, and transmission is carried out using grafting method;Step 3: observation and detection, according to the disease cycle of difficult culture pathogen, the disease phenotype of plant to be identified and indicator plant in step 2 is observed, and the colonization, propagation of difficult culture pathogen is detected by PCR method;Step 4: disease resistance and pathogen running speed evaluation.Effectively solve the problem that the identification result is inaccurate due to the low inoculation rate of difficult culture pathogen using transmission medium, the inconsistency of inoculation source pathogen and other reasons, the error is larger in resistance identification work, etc.

The invention discloses a construction method and application of a mouse model for testicular development disorder caused by Map3k1 gene mutation. The method comprises the following steps: designing and constructing sgRNA and a homologous recombinant vector capable of specifically recognizing a Map3k1 gene on the basis of a CRISPR / Cas9 system, injecting the sgRNA and the homologous recombinant vector into a mouse fertilized egg, screening out an F0-generation mouse with Map3k1 gene mutation from a mouse produced after the fertilized egg is transplanted, and hybridizing the F0-generation mouse with a wild type mouse to obtain a stably inherited Map3k1 gene mutation mouse model. The phenotype detection result of the mouse model shows that the fertility of the mouse model is remarkably reduced, and testis dysplasia conforms to the disease phenotype of testis dysplasia. The mouse model provides a convenient, reliable and economic means for researching the relationship between Map3k1 gene mutation and testicular dysplasia and the pathogenesis of the Map3k1 gene mutation and testicular dysplasia, and can be used for researching the pathogenesis of testicular dysplasia, a treatment method, drug screening and the like.

The application provides a method and system for optimizing SNP interaction selection precision based on an ant colony algorithm, and the method comprises the following steps: each artificial ant selects an SNP interaction in a search space, all artificial ants are divided into several populations, and an adaptive function is allocated to each population, and the adaptive function is used to evaluate the correlation between the SNP interaction and a disease phenotype; an information matrix is updated by using any pheromone updating strategy; in each iteration process of the ant colony algorithm, a self-learning mechanism is set by taking the maximum cumulative reward of the ants as a target, and the pheromone updating strategy is changed through the self-learning mechanism. Based on the method, a system for optimizing SNP interaction selection precision based on the ant colony algorithm is also provided. The application is used for accurately selecting SNP interactions related to a disease phenotype, several different path selection strategies are designed, and the path selection strategy which can bring the maximum selection ability to the algorithm is adaptively selected in the search process of the algorithm based on reinforcement learning.

The application discloses application of forskolin and / or isoforskolin in preparation of a medicine for preventing and / or treating colitis, and belongs to the technical field of medicines.The medicine can significantly improve the disease phenotype of colitis, including relieving weight loss, reducing disease activity index score, improving colon length shortening and histopathological damage.The mechanism of action involves multiple targets: repairing intestinal mucosal barrier function, reducing local inflammation of the colon, and regulating intestinal flora balance, restoring the abundance of beneficial bacteria and inhibiting the proliferation of pathogenic bacteria.The application provides a candidate drug with anti-inflammatory, barrier repair and flora regulation functions for the treatment of colitis, and expands the medical use of forskolin or isoforskolin.

The invention relates to the technical field of animal models, and particularly discloses a construction method and application of a mouse model with fat dystrophy complicated with atherosclerosis, and the construction method comprises the following steps: mating MED1flox / flox mice with Adipoq-CreERT2 mice to obtain F1-generation mice; the F1-generation mice and MED1flox / flox mice are subjected to backcross, the mice with the genotype being MED1fl / flAdipoq-Cre < + / -> are screened, tamoxifen is injected to induce fat cell specific Cre recombinase expression, and fat cell specific MED1 gene knockout mice are obtained; and performing caudal vein injection of AAV8-PCSK9 virus and feeding with a high-cholesterol and high-fat feed to obtain the fat dystrophy complicated with atherosclerosis mouse model. According to the method provided by the invention, the mouse model with fat dystrophy complicated with atherosclerosis is successfully constructed and obtained, and collaborative simulation and regulation of phenotypes of two diseases are realized.

The present invention provides a method for targeting a maternal UBE3A allele to establish an animal model of Angelman syndrome and use thereof. By means of extensive and in-depth research and screening of the sequences of primate genome UBE3A genes, a target suitable for genetic engineering is obtained: an intron upstream of and / or an intron downstream of exon 5 of a maternal UBE3A gene. An animal model of Angelman syndrome can be obtained by performing downregulation targeting the target. The animal model has a stable and controllable state and a typical disease phenotype, which is conducive to observation.

The present invention provides methods of profiling gene and protein expression of a plurality of nuclei from a single cell type and comparing the profiles to determine variability among cell populations, samples from different subjects, and cells expressing a disease phenotype.

The invention provides an application of a liver Sdhaf4 gene in preparation of a retinopathy model. The inventor is devoted to research on retinopathy for a long time, through deep research tests, a brand-new retinopathy-causing gene target of peripheral tissues related to retinopathy, namely the Sdhaf4 gene is disclosed, and through reasonable design, the Sdhaf4 gene can be used for preparing a new retinopathy-causing gene target. The retinopathy animal model under the condition of good blood glucose control can be obtained by targeting the target and implementing down-regulation. The animal model is stable and controllable in state, typical in disease phenotype and easy to observe.

The application of a natural small molecule compound in the preparation of a drug for treating a disease related to CSF1R function loss belongs to the technical field of medicine. The natural small molecule compound Diosmetin-7-O-beta-D-glucopyranoside (DDG) can effectively improve the disease phenotype of a CSF1R function loss model mouse by up-regulating the transcription and protein expression of CSF1R in microglia through enhancing the activity of a super-enhancer FIRE in the second intron of the CSF1R gene. The drug can be prepared into injection preparations, oral preparations, spray preparations, ointment preparations or patches, and provides a natural small molecule treatment scheme for diseases related to the weakening / loss of CSF1R content or function, and has a wide clinical application prospect.

The application belongs to the field of plant genetic engineering, and discloses a pepper cucumber mosaic virus disease resistance related gene and application thereof. The application constructs overexpression plants of pepper gene Capana00g000026 and silencing plants of the pepper gene Capana00g000026, identifies characteristics of the plants after inoculation of the cucumber mosaic virus, and analyzes the role of the pepper gene Capana00g000026 in the defense of the pepper infected with the cucumber mosaic virus; the genes related to the defense are screened; it is proved that increasing the content of the gene can significantly reduce the accumulation amount of the virus in the pepper leaves, and the disease phenotype of the plant is weakened, so the gene can be applied to pepper virus resistance engineering. The gene can be applied to the pepper, and the breeding material with CMV resistance can be cultivated by transformation of the pepper material.

The invention provides a method for establishing an angel syndrome animal model by targeting a UBE3A maternal allele and application. On the basis of extensive and in-depth research and screening of sequences of primate genome UBE3A genes, a target suitable for gene modification is obtained: an upstream intron and / or a downstream intron of maternal UBE3A gene exon5, and an angel syndrome animal model can be obtained by targeting the target to implement down regulation. The animal model is stable and controllable in state, typical in disease phenotype and easy to observe.

The invention discloses a method for phenotypic analysis and severity quantification of potato tuber diseases by using a double-ended CNN-Transform network, and belongs to the technical field of potato disease detection. The invention aims to realize accurate classification of potato tuber diseases. The method comprises the steps that a potato disease data set is constructed, and an Anylaging tool is used for labeling; performing data enhancement to obtain a potato disease data set after data enhancement, and dividing the potato disease data set into a training set and a test set; the method comprises the following steps: constructing a double-end hybrid CNN-Transform architecture, a CNN encoder for local feature extraction, a Transform bottleneck layer for global context modeling and a double-end output structure coupled through a novel SAP mechanism, wherein the CNN encoder, the Transform bottleneck layer and the double-end output structure are connected in sequence; and constructing a composite multi-task loss function to train the double-headed mixed CNN-Transform architecture, and carrying out automatic diagnosis and detection on the potato diseases by adopting a test set.

The invention discloses a method for improving black spot resistance of crops by raffinose, which comprises the following steps: selecting healthy and consistent seedling-stage plants of the crops, and culturing; raffinose solution preparation: preparing raffinose solutions with different concentrations, respectively spraying the raffinose solutions on the plants in the step 1, spraying the raffinose solutions once every 24 hours in a laboratory scene, spraying the raffinose solutions twice in total, spraying the raffinose solutions once every 5 days in a field scene, spraying the raffinose solutions three times in total, and spraying clear water in a contrast manner; after spraying in the step 2 is finished for 24 hours, inoculating alternaria alternata to the control plants and the treated plants, comparing disease phenotypes under different raffinose concentrations, and screening the concentration with the optimal effect; 3, according to the result of the step 3, determining that the spraying effect of the raffinose solution with the concentration of 2.4% is optimal, selecting the raffinose solution with the concentration to be sprayed on the plants, the spraying method is the same as that of the step 2, performing artificial inoculation 24 hours after the last time of spraying is finished, observing the disease phenotype, and counting the disease state. After being treated by the 2.4% raffinose solution, the disease spot areas of the tea chrysanthemum, the apples and the tomatoes are obviously reduced.

The invention provides a gene detection kit for molecular diagnosis of hemangioma and vascular malformation and application. Specifically, the invention provides a gene combination for determining molecular diagnosis of hemangioma and vascular malformation, and based on NGS panel + RNAseq gene sequencing, the gene combination for molecular diagnosis of hemangioma and vascular malformation provided by the invention can be applied to all molecular diagnosis and liquid biopsy related to hemangioma and vascular malformation. The correlation between mutation sites and abundance and disease phenotypes is disclosed, so that the method has a relatively great clinical popularization and application prospect.

The invention provides a digital PCR (Polymerase Chain Reaction) primer probe combination for PIK3CA (Polymerase Chain Reaction) related overgrowth spectrum molecular diagnosis and application of the digital PCR primer probe combination. Specifically, the invention provides a digital PCR (Polymerase Chain Reaction) primer combination for molecular diagnosis of PIK3CA-related overgrowth spectroscopy (PROS). Through acquisition and treatment of pathological specimens, establishment of reaction internal reference, design of digital PCR primers and probes for PIK3CA-related excessive growth spectrum (PROS) molecular diagnosis and automatic analysis and treatment of digital PCR results, the digital PCR detection and automatic analysis system provided by the invention can be used for carrying out PROS-related molecular diagnosis and liquid biopsy in a disease range of application; the correlation between mutation sites and abundance and disease phenotypes is disclosed, so that the method has a relatively great clinical popularization and application prospect.

This invention relates to the field of artificial intelligence technology, specifically to a method for predicting microbial diseases based on the cross-fusion of phylogenetic and abundance data. First, it collects raw metagenomic sequencing data and corresponding species abundance information to construct an initial dataset, builds a model-specific microbial lexicon, and transforms biological entities into symbolic representations that can be processed by deep learning models. Then, it vectorizes the microbial data. Next, a Cross-Attention module is used to achieve cross-modal interaction and fusion between sequence features and abundance features, providing a powerful model for disease phenotype prediction tasks, which is then trained and optimized. Finally, through transfer learning, the discriminative knowledge learned by the model in classification tasks is transformed into topological connections in the network. This allows network centrality analysis to quantify the pivotal importance of each microorganism from the "model decision-making perspective," thereby identifying key biomarkers that are both strongly correlated with disease and located at the ecological core, achieving a transformation from prediction to discovery.

The invention discloses siRNA for treating UMOD gene mutant autosomal dominant hereditary renal tubular interstitial nephropathy, and belongs to the field of biomedicine. The siRNA comprises a positive-sense strand and an antisense strand, and the nucleotide sequences of the positive-sense strand and the antisense strand are SEQ ID NO.1 and SEQ ID NO.2 respectively. Compared with the prior art, the UMOD point mutation mouse model is successfully constructed, and the model completely simulates typical disease phenotypes of ADTKD-UMOD patients. In-vivo and in-vitro functional verification shows that Umod mutated mice and cell models can activate unfolded protein reaction and cell ferroptosis and apoptosis for the first time. The invention further adopts targeted UMOD mRNA for intervention by using siUMOD, and the result shows that siRNA can inhibit Umod mutant cell ferroptosis and cell apoptosis, relieve endoplasmic reticulum stress caused by mutation, improve mouse renal function and delay disease progression at the same time. According to the application, an innovative and feasible method is provided for treatment of ADTKD-UMOD, and a universal platform technology is provided for single-gene hereditary nephropathy.

The application discloses a method for establishing a concurrent cataract mouse model, and the mouse model is obtained by retinal-specific knockout of a Phb2 gene. flox / flox The Six3-Cre mouse appears a degenerative retinal disease phenotype at the age of 6-8 weeks, fundus examination shows that the retina is atrophic and thin, the structure of each layer is disordered, the distribution of retinal pigment is disordered, and electrophysiological examination shows that the mouse has abnormal vision function. The mouse appears lens opacity at the age of 8-10 months, and shows a concurrent cataract phenotype. Therefore, the model mouse can better simulate the phenotype of concurrent cataract in clinic, and can be used as an animal model for concurrent cataract related research.

The application discloses a traditional Chinese medicine scoring recommendation method based on Mendelian randomization, generates a traditional Chinese medicine target dataset according to a drug target gene of traditional Chinese medicine, determines a tool variable dataset and a result dataset, performs MR analysis, obtains potential causal correlation between exposure factors and outcome factors, generates a preliminary potential traditional Chinese medicine target dataset for treating a disease phenotype, determines genes existing in the preliminary potential traditional Chinese medicine target dataset for treating the disease phenotype, and generates a traditional Chinese medicine target gene dataset; a basic PPI protein interaction network is constructed, protein node scores corresponding to coding proteins of each traditional Chinese medicine target gene in traditional Chinese medicine are added, a traditional Chinese medicine score is obtained, and then a traditional Chinese medicine scoring ranking is obtained. The application can complete automatic screening of potential disease treatment targets, provide support information of causal correlation identified by Mendelian randomization, and further performs recommendation of potential available traditional Chinese medicine on the basis.

The embodiment of the application provides a SNP-SNP interaction detection method, system, device and medium, relates to the particle swarm optimization technical field, and is used to solve the technical problems that the existing SNP-SNP interaction detection has high time complexity and low optimization efficiency. Including: taking mutual information as a target function, and storing one SNP in each component of all particles; the mutual information is used to represent the correlation between SNP interaction and disease phenotype; all particles are sequentially filled into a plurality of sub-populations from top to bottom in descending order; wherein, the number of particles stored in each sub-population is consistent; the plurality of sub-populations are globally and locally searched to complete algorithm iteration; after the algorithm iteration is terminated, the position of the particle with the highest target function value is obtained, and the correlation between the SNP-SNP interaction corresponding to the particle and the disease phenotype is the strongest.