28 results about "Genetic variation" patented technology

The application discloses a gene prdR for regulating myxobacteria predation and a protein coded by the gene, and belongs to the technical field of biotechnology. The mutant DK10 with significantly improved predation capacity is obtained by using the strategy of adaptive evolution; genetic variation sites of the mutant DK10 are analyzed by using the bacterial genome resequencing technology, and functions of the genetic variation sites are researched by using the gene knockout technology, and it is found that the gene deletion of MXAN_2902 (prdR, the nucleotide sequence is shown as SEQ ID NO. 1) significantly enhances the predation capacity of Myxococcus xanthus. The nucleic acid sequence and the amino acid sequence of the transcriptional activator PrdR for regulating the predation of Myxococcus xanthus are disclosed, and the functional strain of Myxococcus xanthus capable of efficiently predating Salmonella enteritidis can be developed by using the prdR gene, and a new strategy is provided for the prevention and control of drug-resistant HVPG pathogenic bacteria.

This invention belongs to the field of molecular breeding technology and provides a method based on... C12orf4 Molecular breeding methods and applications for genetic variations of the eQTL gene in eggshell strength and anti-aging resistance. This invention utilizes molecular marker combinations... C12orf4 Gene expression levels have a regulatory role; the molecular marker combination is located at Chr1:72995066, Chr1:73250348, and Chr1:73614612 loci in the chicken genome, respectively. This invention, through multidimensional association analysis integrating genomic, transcriptomic, and phenotypic data, identified and constructed a key gene that can prospectively and systematically reflect the process of tissue functional decline in laying hens. C12orf4 The molecular marker combinations provided by this invention offer a new technical means for the accurate assessment of aging-related traits in laying hens and for molecular breeding, and have significant application value and industrial significance.

The application belongs to the technical field of gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized multiplex polymerase chain reaction with high-throughput sequencing or gene chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening, genetic diagnosis of suspected patients, carrier screening and prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.

This invention relates to the field of path optimization technology, and proposes a method for optimizing robot inspection paths and rapid production changeover based on digital twins. The method includes: constructing a digital twin model of the physical inspection equipment; configuring the joint hierarchy and motion constraints of the visual inspection robot based on the robot's DH parameters; controlling the end effector of the visual inspection robot to move to the inspection point on the battery tray based on an inverse kinematics algorithm, generating a teaching point sequence and an initial inspection path; inputting the teaching point sequence into an improved ant colony algorithm, optimizing the initial inspection path by incorporating genetic mutation operations and a backtracking reset mechanism, obtaining the optimized path; driving the inspection equipment to execute the complete inspection process based on the optimized path, and verifying the feasibility of the flipping timing of the flipping positioner, the movement of the positioning fixture, and the coordination of the visual inspection robot's trajectory; and converting the optimized path into control commands and sending them to the inspection equipment.

This invention discloses a primer combination for maize genotyping suitable for nanopore sequencing platforms and its application. The primer combination includes at least one of 11 pairs of ONT primers, the sequences of which are shown in SEQ ID NO: 1-SEQ ID NO: 22. The primers of this invention can specifically amplify target regions rich in genetic variation in the maize genome. The amplified PCR products are mixed and then sequenced using nanopore sequencing. By analyzing the species attributes and genome alignment positions of the sequencing sequences, combining experimental data from the test samples to calculate the targeting rate of the amplified products, and associating them with known genomic information, the purity and identification accuracy of maize seeds can be determined. This primer combination combines maize material specificity with population compatibility, enabling economical and efficient genotyping of maize inbred lines and hybrid populations. It can also be applied to verify the authenticity of maize varieties, analyze the genetic background of breeding materials, and screen for genotyping.

This invention relates to the field of species breeding technology, specifically to a genomic selection prediction model based on graph pan-genomics and deep learning, and its application. The selection prediction model provided by this invention obtains multi-type genetic variation information such as SNPs, INDELs, and SVs based on graph pan-genomics, constructs a target marker set by combining public GWAS data and known functional loci, and utilizes a deep learning framework to achieve the collaborative construction of multi-type variation information. This model can improve the accuracy of predicting rice agronomic traits under multiple environmental conditions, providing technical support for rice molecular design breeding and precision selection. This selection prediction model can solve the problems of insufficient utilization of complex genetic variations and limited predictive ability of complex agronomic traits under multiple environmental conditions in existing genomic selection methods, thereby improving the efficiency of crop molecular breeding and reducing breeding costs.

This invention relates to the field of biotechnology, specifically disclosing a genetic fragment, molecular marker, and application for regulating the angle between ears of maize leaves. The genetic fragment is located on chromosome 2 of the maize B73 reference genome (RefGen_v4), between 201960860 and 201960877 bp, with a physical location interval of less than 20 bp, constituting a key genetic locus (named LA1) regulating the angle between ears of leaves. This locus contains the genetic variation sites rs_2_201960860 and rs_2_201960877. This invention significantly improves breeding selection efficiency, provides a powerful tool for breeding high-yielding and density-tolerant maize varieties, and has significant application value and promising prospects for achieving high and stable maize yields.

The present application relates to a kind of molecular marker set for egg duck breeding, the molecular marker set includes multiple single nucleotide polymorphism (SNP) sites, the multiple SNP sites are determined based on the physical location of egg duck reference genome ZJU1.0, and the multiple SNP sites include functional SNP site and background SNP site;Wherein, the functional SNP site is significantly related to the reproductive trait phenotype of egg duck, the background SNP site is screened based on the principle of uniform distribution of genome.The set of the present application is directly associated with important breeding target traits, improves the accuracy of genomic selection, ensures that the genetic information in the whole genome range is evenly captured, enhances the robustness of breeding value estimation and the coverage of whole genome genetic variation.

The embodiment of the present application provides a kind of variation interpretation acquisition method and device, suitable for obtaining the variation interpretation of the detected genetic variation to the case of being detected, comprising: obtaining the detected genetic variation of the case of being detected;Based on the detected genetic variation, obtain the variation combination corresponding to the detected genetic variation including the detected genetic variation, the gene corresponding to the detected genetic variation, the disease corresponding to the gene and the genetic mode corresponding to the disease;According to the detected genetic variation in the variation combination, the gene, the disease and the genetic mode, at least two of variation pathogenicity, disease similarity and mendelian inheritance consistency are acquired;According to the variation pathogenicity, the disease similarity and the mendelian inheritance consistency three at least two acquired, the variation interpretation of the variation combination is acquired.This application embodiment provides the variation interpretation acquisition method can improve variation sequencing result accuracy and the efficiency of etiological variation analysis.

Provided herein are methods, compositions, and kits to spatially detect genetic variants in a target nucleic acid via templated-ligation and reversible terminator nucleotides.

The application relates to a method for detecting and / or evaluating milk quality traits of Chinese Holstein cows, and the present application takes IFI47 as a research object, detects genetic variations in a Chinese Holstein cow population, finds that the IFI47 gene exists a SNPs, namely g.40461076 C>G, and exists three genotypes of GG, CG and CC, wherein the dry matter content of the individual with the GG genotype is significantly lower than that of the individuals with the CG and CC genotypes. A solid foundation is laid for subsequent breeding of high-quality cow new strains based on the gene marker assisted selection technology.

This invention provides a SNP site, identification kit, identification method, and application for the Jk(a+w) blood type, which triggers immune hemolytic transfusion reactions. The SNP site is the c.613C>T mutation at position 613, starting from the start codon of the SLC14A1 gene coding region. In the proband, the c.613C>T mutation was detected in one allele, while the other allele carried other known inactivating mutations. The allele carrying the c.613C>T mutation resulted in reduced expression of the Kidd protein in the proband's erythrocytes; the other allele, carrying other inactivating mutations, did not express the Kidd protein. The combined effect of these two mutated alleles resulted in the Jk(a+w) phenotype. This provides a genetic variation basis for the establishment of rare blood type banks and the assurance of transfusion compatibility.

This application discloses a flow cytometry blood sample preprocessing method and system based on a robotic arm, relating to the field of flow cytometry technology. The method includes: acquiring operational and layout information of the sample to be processed, and encoding this information to obtain sample features; generating an initial chromosome population based on the sample features; performing genetic mutation processing on the initial chromosome population to obtain a target optimized population, and selecting target chromosomes that meet preset fitness conditions from the target optimized population; determining the trajectory planning scheme corresponding to the target chromosome as the target trajectory scheme, and controlling the robotic arm to perform sample preprocessing operations according to the target trajectory scheme. This application acquires sample information and performs feature encoding, thereby optimizing the trajectory using a genetic evolution algorithm based on the sample features. This allows the robotic arm's trajectory scheme to fully consider the characteristics and layout of the sample, improving the synchronization and overall efficiency of sample processing.

The application discloses a melon mutant and variety breeding technology with a leaf stalk and a main stem included at an angle less than 45 degrees, relates to the technical field of melon variety breeding, and comprises the following steps: S1, screening excellent melon germplasm resources with inherent genetic traits of small leaf blades and upright leaf stalks as basic breeding parents, and simultaneously considering comprehensive agronomic traits, disease resistance traits and fruit quality traits of the parents; S2, separating offspring populations by means of artificial hybridization or continuous selfing of the screened breeding parents, and constructing a genetic variation basic population; and S3, under the condition of high-density standardized planting of facilities. The application breeds a new melon variety suitable for high-density cultivation, improves land utilization efficiency, group photosynthetic efficiency and unit area yield, simultaneously improves field ventilation and light penetration conditions, and reduces the risk of disease occurrence. Moreover, due to the fact that the outward expansion degree of the whole plant is obviously reduced, the row width is increased, which is beneficial to mechanical spraying, fertilization and weeding operations, and a large number of labor is reduced.

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.

This application relates to the fields of chili pepper molecular breeding and biotechnology, and provides a KASP molecular marker, primer set, kit, and application related to chili pepper fruit width. The KASP molecular marker is shown in SEQ ID NO:1, the primer set is shown in SEQ ID NO:2, SEQ ID NO:3, and SEQ ID NO:4, and the kit includes the aforementioned primer set. This invention also discloses the application of the primer set or the kit in identifying chili pepper fruit width types or in molecular-assisted breeding for chili pepper fruit width. The molecular marker of this invention originates from genetic variations generated during natural evolution, exhibiting higher polymorphism and wider applicability in conventional breeding populations, local varieties, and commercial varieties with rich genetic diversity, effectively avoiding marker failure problems caused by differences in genetic background.

This invention discloses a method, device, and medium for intelligent interpretation of genetic variations in single-gene diseases, relating to the field of bioinformatics. The method includes: generating an enhanced similarity matrix based on standardized phenotypic feature vectors using disease-specific phenotypic templates and a cosine similarity algorithm; obtaining a dynamic weight vector through a dynamic adjustment function; integrating the dynamic weight vector into a normalized multi-omics data matrix; calculating a preliminary perturbation score using a path integral formal algorithm; obtaining a pathway perturbation score; fusing the pathway perturbation score and the dynamic weight vector; calculating a pathogenicity score using a quantum field theory-inspired multi-level evidence fusion algorithm; and generating a comprehensive report of variant pathogenicity grading and clinical recommendations based on a thermodynamic partition function model. This invention achieves nonlinear, high-dimensional collaborative modeling and thermodynamic stability optimization of heterogeneous biological evidence, and also improves the interpretability of pathogenicity judgment in complex genetic contexts.

The present invention relates to a DNA polymerase variant belonging to Family A and its use, and to a DNA polymerase variant that smoothly polymerizes when the base at the 3' end of a primer is complementary to a template, and polymerization is inhibited when the base at the 3' end of a primer is not complementary to a template, thereby easily discriminating between the two cases, and to a PCR method using the variant and a PCR kit containing the variant. The present invention is useful for single nucleotide polymorphism analysis (SNP genotyping) and somatic mutation detection, etc.

The invention relates to a microfluidic device and system for detecting and / or measuring at least one nucleotide sequence. The invention also relates to a method of detecting a nucleotide sequence by microfluidic impedance cytometry, and detecting genetic variation in individuals by allele-specific amplification by PCR and microfluidic impedance cytometry.

Analysis devices, storage media, and methods relating to prediction of phenotypic traits from proteomic data and correlation of the phenotypic traits to genomic data. The proteomic data includes information regarding protein abundance for a plurality of distinct proteins for a plurality of individuals. The genomic data includes information regarding presence of a plurality of distinct genetic variants for each individual. The methods include applying a predictive model to the proteomic data to predict at least one predicted phenotypic trait that is correlated to the proteomic data for at least one individual. The applying includes correlating the protein abundance of at least two proteins to the predicted phenotypic trait for the at least one individual. The methods also include identifying, from the genomic data for the at least one individual, at least one genetic variant that is correlated to the at least one predicted phenotypic trait.

This invention discloses a comprehensive identification method for *Peronobacter spp.* strain QH, belonging to the field of plant pathogen identification technology. The method includes the following steps: obtaining a sample of the *Peronobacter spp.* strain to be identified; extracting morphological characteristics of hyphae, sporangia, and conidiophores; extracting key morphological parameters and generating a morphological feature vector; amplifying its housekeeping gene fragment using polymerase chain reaction and sequencing to obtain the nucleotide sequence; calculating sequence similarity and generating a molecular feature vector; performing comprehensive matching and judgment, and outputting the identification result; generating an identification report, and combining it with strain information in a database for source tracing analysis and risk warning. This invention solves the problems of traditional identification methods relying on single indicators, strong subjectivity, and difficulty in distinguishing intraspecific genetic variations by multimodal fusion of morphological quantitative characteristics and molecular biological marker characteristics. It achieves accurate, objective, and automated identification of *QH* strains, providing data support for disease source tracing and control decisions.

This invention provides a SNP site for Co(a-b-) blood type that triggers immune hemolytic transfusion reactions, a blood typing kit, a method for identification, and its application, relating to the field of biotechnology. The SNP site includes a c.168delC deletion mutation at position 168, starting from the start codon in the AQP1 gene coding region. This mutation is a pathogenic SNP site for Co(a-b-) blood type, and the alleles it forms prevent the normal expression of Aquaporin-1 protein on the erythrocyte membrane, resulting in the absence of Co... a Antigen, and no Co b The antigen was identified as the Co(a-b-) phenotype. This provides a genetic variation basis for the establishment of rare blood type banks and the assurance of transfusion compatibility, and can be used for Co(a-b-) blood type identification. The identification of the new allele also provides a new research target for exploring the association mechanism between Colton blood type and certain diseases, contributing to the optimization of personalized medicine strategies.