14 results about "Polygene" patented technology

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an oocyte occurrence and maturation disorder detection panel, a detection kit and application thereof, and the detection panel comprises mutation genes related to the oocyte occurrence and maturation disorder for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, by detecting high-risk genes and mutation sites, the risk of occurrence and maturation disorder of the oocytes is predicted in combination with clinic, the development potential of the oocytes is evaluated, the in-vitro maturation strategy is optimized, and the clinical outcome of assisted reproduction is improved. The detection panel can be used for efficiently detecting gene mutation which has clinical diagnosis and treatment significance on oocyte occurrence and maturation disorders; the method has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention measures of patients suffering from recurrent oocyte occurrence disorder, oocyte maturation disorder and low oocyte maturation rate and patients to be subjected to assisted reproduction technology treatment.

The invention relates to the technical field of bioinformatics and medical data processing, and discloses a polygene molecular diagnosis model and a construction method and application thereof.The construction method comprises the steps that a data acquisition module constructs a genome, clinical phenotype and environmental exposure data matrix, a preprocessing module executes regression filling and standardizes continuous variables, and a data processing module performs data processing; the feature screening module executes double-layer screening by using LASSO and a random forest model to output a core feature subset, the model building module builds a logic regression architecture to calculate a baseline logarithm probability, and the dynamic updating module outputs a real-time risk probability in combination with follow-up visit environment data, a time adjustment coefficient and the baseline logarithm probability. And the interactive output module outputs a risk layering label and a feature contribution degree. According to the method, redundancy is eliminated through double-layer screening, the time dimension is introduced to adjust the real-time correction probability, visual attribution is realized in combination with the SHAP algorithm, and the dynamic monitoring capability and interpretability are improved.

This invention discloses a method for multi-gene aggregation breeding of larch and its application in cultivating new larch germplasm, lines, and varieties with excellent performance in terms of biomass, timber properties, and stress resistance. It includes the following steps: construction of a multi-gene aggregation expression backbone vector suitable for larch genetic transformation; cloning of genes regulating target traits such as biomass, timber properties, and stress resistance; construction of the multi-gene aggregation expression vector; larch genetic transformation, screening, and identification; and phenotypic observation and evaluation of the multi-gene-transferred larch materials. Results show that this method can introduce multiple target genes into larch recipient materials through a single genetic transformation, significantly improving the breeding efficiency of obtaining transgenic larch materials with excellent comprehensive traits. This method is of great value in overcoming the breeding bottlenecks of long larch growth cycles and a lack of precise techniques for synergistic improvement of multiple traits, and in the targeted and efficient cultivation of larch materials with excellent comprehensive traits.

The invention relates to a high-sensitivity multi-gene joint detection kit. The kit is used for detecting mutation conditions of human BRAF, KRAS, NRAS, HRAS, RET, TERT, TP53 and PIK3CA genes. The primer probe and the amplification system are unique, the 37 mutation types of the 8 genes can be specifically and highly sensitively detected only through 5 ng DNA, and the detection sensitivity is as low as 1%-5%. Compared with the defects that the traditional Sanger sequencing detection sensitivity is low, the number of detection sites of a PCR method is small, NGS operation is complex, and the price is high, the method has obvious advantages in clinical application.

The invention discloses a polygene SNP (Single Nucleotide Polymorphism) molecular marker combination for predicting the first laying age of chickens and application of the polygene SNP molecular marker combination, and belongs to the fields of molecular genetics and agricultural animal breeding. The marker combination comprises SNP (Single Nucleotide Polymorphism) of four genes which influence gonad development and play a key expression regulation role in a reproduction endocrine network, and the SNP is specifically positioned on 273282348, 1169302032, 273273533 and 1169302490 of a reference genome GRCg7b. The invention proves that the specific genotype combination of the four SNP loci is obviously related to the early laying day age of the chicken. By simultaneously detecting the four SNP loci of an individual to be detected, the premature genetic potential of the individual can be calculated and evaluated. The multi-gene combined prediction system constructed by the invention overcomes the defect of insufficient prediction effectiveness of a single marker, and provides a reliable molecular tool for efficient and accurate breeding of precocious strains of laying hens.

The invention relates to the technical field of pneumoconiosis diagnosis, in particular to a pneumoconiosis polygene genetic risk prediction system. According to the method, genetic variation related to occupational pneumoconiosis susceptibility is deeply studied, a plurality of genetic variation sites highly related to pneumoconiosis onset risks are screened out, and a multi-gene genetic risk scoring model is established in combination with macroscopic factors. The model not only considers the influence of the genetic background on the disease, but also integrates the effects of external environmental factors, thereby providing more comprehensive risk assessment. The system solves the technical problem of lack of a system for accurately predicting the incidence probability of pneumoconiosis in the prior art, and fills the blank in related fields. By inputting personal genetic information and macroscopic factor data, the system can generate personalized risk scores, help doctors and patients to better understand potential health risks and take corresponding prevention measures, and has important public health significance and practical application value.

The invention discloses a drinking health risk assessment method based on acetaldehyde metabolism load, and relates to the technical field of health risk assessment. Comprising the following steps: selecting a key gene in an alcohol metabolic pathway, and screening known functional single nucleotide polymorphism (SNP) sites in the key gene; performing binary assignment on each selected SNP site according to the influence of the genotype of the SNP site on the acetaldehyde metabolism load; respectively calculating a liver acetaldehyde load index and a digestive tract acetaldehyde load index, and summing to obtain a total acetaldehyde load index; performing risk grading on the drinking health risk according to the total acetaldehyde load index; and analyzing the association between the alcohol intake and the disease risk by using a multivariable Cox proportional risk regression model, verifying the effect modification effect of the acetaldehyde load index, and carrying out risk stratification assessment. According to the method, the individual drinking health risk can be accurately evaluated by integrating alcohol metabolism related polygene genetic characteristics.

The invention discloses a polygene editing method for improving low-nitrogen tillering capability and nitrogen utilization efficiency of rice and application of the polygene editing method. The multi-gene editing method comprises the following steps: firstly, constructing a gene editing system capable of knocking out the gene CAMTA1, the gene CAMTA2 and the gene CAMTA3 at the same time, then transforming the gene editing system to rice callus, and carrying out screening and plant regeneration of resistant callus to obtain rice with the gene CAMTA1, the gene CAMTA2 and the gene CAMTA3 being knocked out at the same time. The invention overcomes the limitations of gene redundancy, negative effect linkage, energy metabolism imbalance and the like existing in improvement of crop traits through overexpression of a single gene in the prior art, provides a brand-new method for synergistically knocking out a plurality of specific genes, and can create a transgenic plant with synergistically improved nitrogen utilization efficiency and tillering ability.

Relates to multi-gene risk scores for in vitro fertilization. Provided is a method for determining the risk of a disease associated with an embryo, comprising constructing a genome of the embryo based on (i) one or more genetic variants in the embryo, (ii) a paternal haplotype, (iii) a maternal haplotype, (iv) a probability of transmission of the paternal haplotype, and (v) a probability of transmission of the maternal haplotype; assigning a polygene risk score for the embryo based on the constructed genome of the embryo; determining a disease risk associated with the embryo based on the polygene risk score; and determining delivery of the genetic variants causing the disease and / or haplotypes from the paternal and / or maternal genomes to the embryo. Also provided are methods of determining a range of disease risks for a mother and a potential child of a potential sperm donor. Also provided are methods of determining the risk of disease in an individual.

The application discloses cloning and application of a wheat broad-spectrum polygene WAI-A1 and belongs to the technical field of genetic engineering breeding. The technical problem to be solved by the application is how to improve the stress resistance of plants, for example, how to improve the disease resistance of wheat. In order to solve the above technical problem, in the first aspect, the application provides application of a protein or a substance for regulating gene expression or a substance for regulating the activity or content of the protein in the regulation of the stress resistance of plants, wherein the gene codes the protein, and the protein is WAI-A1 protein. The application provides a gene positioning, map-based cloning and biological function identification method of the wheat stress resistance gene WAI-A1. The wheat stress resistance gene WAI-A1 can be widely applied to the fields of wheat disease resistance genetic breeding, germplasm resource improvement, transgenic and genome editing breeding and the like, and has an important role in improving and improving the germplasm resources of crops such as wheat.

The invention discloses a combined predictive gene composition for evaluating the prognosis of urothelial carcinoma and predicting the immunotherapy effect. The combined predictive gene composition comprises 12 genes, namely NRP2, SOD2, NCBP1, FKBP5, DEGS1, ME2, LAP3, CCDC88A, SLC16A1, ANXA5, ASAP1 and HSPA13. The invention discloses a comprehensive construction method and system of a combined predictive gene composition based on machine learning. The method comprises the following steps: analyzing depletion CD8 + T immune infiltration related genes based on a specific BLCA data set; carrying out cross analysis on the exhaustion CD8 + T immune infiltration related gene and an SLC16A1 expression related pathway gene to obtain M genes; through single-variable Cox analysis, identifying N prognosis genes from the M genes; a CD8 immune-related prognostic spectrum based on the SLC16A1 is determined based on a machine learning ensemble learning algorithm, and a combined predictive gene composition is determined based on the CD8 immune-related prognostic spectrum based on the SLC16A1. The invention discloses a combined predictive gene composition detection kit based on SLC16A1 related exhaustive CD8 + T cell polygene characteristics and application of the detection kit in predicting the lifetime of a patient with urothelial carcinoma and predicting the immunotherapy effect of the patient with urothelial carcinoma.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses a non-obstructive azoospermia detection panel, a non-obstructive azoospermia detection kit and application of the non-obstructive azoospermia detection panel. The detection panel comprises mutant genes related to non-obstructive azoospermia, supportive cell syndrome and testis spermatogenesis arrest for detection, genes with copy number variation and genes with rearrangement events and deletion. By adopting the detection panel or the detection kit provided by the invention, accurate sequencing can be realized. The abnormal condition of the gene contained in the application is detected as a reference for clinical diagnosis of non-obstructive azoospermia (NOA), so that a doctor is helped to optimize NOA treatment measures and testis sperm extraction operation schemes and synchronously design an auxiliary treatment ovum extraction period; the method has important guiding significance for clinical diagnosis and treatment of NOA patients and male patients to be subjected to assisted reproductive technology treatment, evaluation of sperm obtaining success rate of the NOA patients before testis sperm extraction operation, precise treatment and potential personalized intervention measures.

The invention relates to a multi-gene pyramiding breeding method suitable for animal populations, the method adopts a minimum rotation maximum complementation (mRMC) gene pyramiding method, compared with the prior art, all individuals in the population can stably carry n target genes (ideal populations) at the same time by needing fewer generations, the number of generations is reduced, the number of generations is reduced, the number of generations is reduced, and the number of generations is reduced. And it is ensured that the group still contains n families. According to the method, the gene polymerization efficiency is effectively improved, and the method shows superiority in the aspects of controlling the population inbreeding level, maintaining the population genetic diversity, maintaining the background character genetic progress and the like. The method. The method can be combined with breeding technologies such as genome selection, marker-assisted selection, comprehensive selection indexes and the like, provides an efficient, controllable and programmable general technical framework for polygene pyramiding breeding of livestock and poultry such as pigs, cattle, sheep, chickens and the like, and has important application value for accelerating the molecular design breeding process and breeding new varieties with high resistance and high yield.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses a fertilization failure detection panel, a detection kit and application thereof, and the detection panel comprises fertilization failure related mutant genes for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, 41 genes having clear clinical correlation with fertilization failure and pathogenic mutation sites thereof, including mutation sites of important exon regions and partial intron regions of mutant genes, are utilized, and high-risk genes and mutation sites are specifically detected by a high-throughput sequencing technology or by adopting a probe; the risk of abnormal sperm-egg combination and fertilization failure is predicted and avoided in combination with clinic. The detection panel can efficiently detect gene mutation with clinical diagnosis and treatment significance on fertilization failure, and has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention strategies of patients to be subjected to assisted reproduction technology treatment and patients with fertilization failure history.