13 results about "Risk gene" patented technology

The invention relates to the technical field of power communication network security, in particular to a power communication network risk assessment method based on risk genes and a space-time large model. According to the technical scheme, the power communication network risk assessment method based on the risk gene and the space-time large model comprises the following steps that equipment sensor data, meteorological grid data and service topology data of a power communication transmission network are obtained in real time through a multi-source data acquisition module, and space-time alignment and feature coding are executed; a risk gene map is constructed, the risk gene map comprises a three-layer map structure of an equipment vulnerability gene, an environment threat gene and a business dependence gene, and a cross-space-time risk propagation rule is defined; a multi-modal space-time large model is trained, and a framework combining Transform and a space-time diagram convolutional network is adopted. A biological gene concept is introduced into power communication network risk assessment, gene-level fault traceability is achieved, and risk factors have combinability and interpretability.

The application provides a non-coding mutation-induced risk gene expression up-regulation and down-regulation prediction method and system, comprising the following steps: step 1, obtaining a data set and performing pretreatment; step 2, information input standardization between non-coding mutations and gene transcription start points TSS; step 3, non-coding mutation information input standardization; step 4, sequence length alignment and representation learning framework; and step 5, embedded feature merging and prediction output. The application is matched with chromatin accessibility sequencing data to migrate to any tissue or cell type, make accurate and reliable prediction, and utilize an attention mechanism to endow the model with interpretability.

This invention relates to the field of gene polymorphism detection technology and discloses a venous thrombosis risk gene detection kit based on LAMP technology. The kit includes primers and probes for detecting polymorphic sites in venous thrombosis risk genes, detection reaction system components, reagent A and reagent B, positive control A, positive control B, and a negative control. Reagent A and reagent B respectively contain matched primers and probes and the detection reaction system components. Reagent A is a 4G, C, AAG, G, or T reaction tube, and reagent B is a corresponding 5G, T, del, A, or C reaction tube. This invention avoids interference between primers and probes by physically isolating reactions of different nucleic acid sequences in independent reagents A and B. Simultaneously, it utilizes polymerase and cresol red to convert changes in system components into color changes, achieving simultaneous visualization and accurate genotyping of multi-target amplification signals without instrument assistance.

The invention discloses a test case generation method and system, electronic equipment and a storage medium. The method comprises the steps that files of historical production problems are recognized through a natural language processing model, and labels of all target dimensions are extracted; wherein the target dimension at least comprises a trigger module, a trigger scene, root cause analysis, a test key point and a solution; constructing a problem evolution knowledge graph based on the risk genes by using the tags; wherein the risk gene is an essential feature set of historical production problems and is composed of technical gene defects and business logic genes; when a new project exists, semantic analysis is carried out on the demand file of the new project through a BERT model, and demand information of the new project is obtained; retrieving risk genes and solution information corresponding to the new project from the problem evolution knowledge graph based on the demand information of the new project; and generating a test case of the new project by using the retrieved risk gene and the solution information corresponding to the new project.

The invention provides a teenager myasthenia gravis eye muscle type-whole body type transformation risk prediction marker and application thereof. Through GWAS analysis and research, two risky gene regions related to the transformation of the adolescent pure eye muscle type myasthenia gravis to the whole body type are obtained, and single nucleotide polymorphism (SNP) sites with statistically significant association are successfully identified.

The invention discloses guideRNA (Ribonucleic Acid) of a targeted mouse Gba gene, the guideRNA is designed according to the eleventh exon of a mouse Gba-202 transcript, and the nucleotide sequence of the guideRNA is as shown in SEQ ID No. 1. The invention also discloses a construction method of the Parkinson's mouse model and application of the construction method in research on pathogenesis of primary Parkinson's disease. The invention provides an innovative and reliable construction method of the Parkinson's mouse model through the combined action of a PD risk gene Gba mutant mouse and a high milk diet dangerous environment, and the constructed Parkinson's mouse model can better simulate the occurrence and development process of PD, conforms to the pathological progress of PD progressive aggravation, can monitor the early change of PD, and has a good application prospect. And the model can dynamically quantify the dyskinesia and pathological progress of the PD, and can provide a research basis for different stages of PD.

The invention provides for the detection of a perturbed gene network, which includes highly expressed genes during fetal brain development, which is dysregulated in neuron models of autism spectrum disorder (ASD). High-confidence ASD risk genes are upstream regulators of the network modulating RAS / ERK, PI3K / AKT, and WNT / / β-catenin signaling pathways. The invention demonstrates how the heterogeneous genetics of ASD can dysregulate a core network to influence brain development at prenatal and very early postnatal ages and, thereby, the severity of later ASD symptoms. The invention provides a model for diagnosis, prognosis determination, and optionally treatment and monitoring, for any disease by comparing molecular marker patterns in non-affected tissues in a subject with healthy controls to determine a dysregulated network in the subject based on a co-expression pattern of interacting genes.

The application is suitable for the technical field of tumor identification, and provides a tumor heterogeneity identification method, device, electronic equipment and storage medium. The application firstly locates tumor risk genes with consistency change, then identifies subclone specific genes related to tumor risk gene expression, determines subclone specific genes related to survival of a patient to a specified correlation degree, performs consistency clustering analysis on sample patients to obtain a classification label, constructs an optimal tumor prognosis model and screens an optimal image genome feature according to the tumor MRI image and the classification label of the sample patient, and finally analyzes an external tumor MRI image through the optimal tumor prognosis model and the optimal image genome feature, so that tumor heterogeneity quantitative analysis is realized on the premise that the patient is not caused trauma, the survival time of a tumor patient is predicted only through the tumor MRI image, and important theoretical basis and application value are provided for tumor precision medicine.

The invention provides a human venous thrombosis risk gene polymorphism detection primer probe composition as well as preparation and application thereof, and belongs to the technical field of nucleic acid detection methods. The primer probe composition comprises the following sequences: a primer pair PAI-1-F and PAI-1-R which are used for detecting the PAI-14G / 5G site and are respectively shown as SEQ ID NO: 1 and SEQ ID NO: 2, and a probe PAI-1-P of which the sequence is shown as SEQ ID NO: 3; the probe is used for detecting PROCc.565Cgt; the primer pair of the T site PROC (565 Cgt; t)-F and PROC (565 Cgt; the invention relates to a kit for detecting the content of procyanidine, in particular to a kit for detecting the content of procyanidine, which comprises a probe PROC (565Cgt, T)-R and a probe PROC (565Cgt; t)-P, the sequence of which is as shown in SEQ ID NO: 6; the detection kit is used for detecting MTHFRc.677Cgt; the sequences of the primer pair MTHFR-F and MTHFR-R of the T site are respectively shown as SEQIDNO: 7 and SEQIDNO: 8, and the sequence of the probe MTHFR-P is shown as SEQIDNO: 9; wherein the 5'end of the probe is marked with a fluorophore, the 3 'end of the probe is marked with a quenching group, and the first three basic groups are modified by phosphoric acid. The kit is high in detection sensitivity.

This invention provides a probe library and kit for detecting genetic risk gene mutations in viral infections, belonging to the field of gene detection technology. The probe library and kit designed in this invention achieve, for the first time, the simultaneous detection of all mutations in the following 51 genetic risk genes for viral infections: CARMIL2, CCL2, CD27, CD70, CIB1, CTPS1, CXCR4, CYBC1(C17orf62), DBR1, FCGR3A, FCHO1, ICAM1, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IL10, IL10RA, IL10RB, IL... The probe library and kit of this invention contain 18BP, IRF3, IRF7, IRF9, MAGT1, LIG1, MCM2, NOS2, OAS1, POLR3A, POLR3C, POLR3F, PRKCD, RASGRP1, SH2D1A, STAT1, STAT2, TBK1, TICAM1, TLR3, TLR7, TLR8, TMC6, TMC8, TNFRSF9, TRAF1, TRAF2, TRAF3, TYK2, UNC93B1, and XIAP. This invention's probe library and kit can be used for detecting genetic variations in the risk of viral infection in clinical settings, assessing an individual's genetic risk of viral infection, and has broad application prospects.

The present application relates to a gene detection primer and evaluation model for recurrent miscarriage risk caused by thrombosis, and belongs to the field of molecular biology and bioinformatics, in particular: based on multiple PCR amplification and capillary electrophoresis detection of multiple SNPs, and through the construction of a regression prediction model, different weights are given to the included SNP sites, scoring, and finally classifying and evaluating the thrombosis risk of the sample to be tested. The present application discloses a gene for recurrent miscarriage risk caused by thrombosis, including 11 gene names and 12 corresponding sites set, and primers corresponding to the 12 sites. The present application also discloses an evaluation model for recurrent miscarriage risk caused by thrombosis and a corresponding evaluation model.

The present application relates to the fields of biological medicine and data analysis, and particularly relates to a screening method and system of Alzheimer's disease diagnostic markers. The present application provides a screening method and system of Alzheimer's disease diagnostic markers, based on Mendelian randomization (SMR) analysis of aggregated data, combined with multi-omics (risk gene methylation, expression and protein abundance information) research methods, to find key genes in AD pathology, and to reveal their regulatory mechanisms in AD pathogenesis. The method and system provided by the present application further refine the AD diagnostic markers and therapeutic targets, deepen the understanding of the molecular mechanisms in AD disease, find new therapeutic targets, provide innovative strategies and tools for individualized treatment, and ultimately improve the quality of life of patients.

The application discloses a gene-phenotype correlation analysis model and a method and application thereof, and belongs to the technical field of biological medicine. The model establishment method comprises the following steps: S1, collecting known trait-gene data to form a gene-trait pair; S2, calculating the rare mutation type score of each gene by using a formula; S3, analyzing the correlation between the mutation score and the trait by linear regression, calculating the weight of each mutation type, and optimizing the weight combination, so that the correlation R 2 is taken as the evaluation standard; S4, calculating the rare mutation load score of a sample gene according to the scoring formula and the optimized weight; S5, analyzing the correlation between the mutation load score and the phenotype by a regression method, and constructing a gene-phenotype correlation analysis model. Compared with a traditional gene-base collapsing method, the model has good reproducibility and complementarity, and can be used for discovering candidate risk genes of new traits or unknown diseases.