165 results about "Genetic marker" patented technology

System and methods for alerting a healthcare provider to prescribed treatments having reduced or no effectiveness due to genetic composition is provided. A database containing treatments known to have reduced or no efficacy in persons having particular genetic markers is queried to determine whether any treatments prescribed by, or likely to be prescribed by, a healthcare provider to the patient are known to have reduced or no efficacy in persons having the same certain genetic markers as the patient. An alert indicating such information is displayed at a healthcare provider system.

The invention discloses a 26 Multi-InDel genetic marker system for highly degraded sample typing, a detection primer and application of the 26 Multi-InDel genetic marker system, and belongs to the technical field of forensic medicine identification. According to the invention, through bioinformatics screening and experimental verification, a multi-InDel genetic marker system of which the lengths of 26 amplicons do not exceed 125 bp is constructed. The problem that degradation detection material detection and high system efficiency are difficult to consider at the same time is solved. The random matching probability of the system in Han population in Hunan reaches 2.25 * 10 <-17 >, the cumulative paternity exclusion rate is 0.999925, complete typing of highly degraded DNA can be achieved, triad paternity test can be completed, and a new technical scheme which is efficient and compatible with a capillary electrophoresis platform is provided for forensic practice.

The invention relates to the technical field of biology, and provides a genetic marker for children nephrotic syndrome genetic risk assessment. The invention relates to genetic detection and application of hormone sensitive nephrotic syndrome (pSSNS) of children. Nine risk sites, including new sites of 1q23.1, 1p36.13, 5p13.2, 10q21.3, 10q24.1 and the like, highly related to diseases are found by integrating whole genome association research (GWAS) data, combining Meta analysis and a conjugate false discovery rate (conjFDR) method and taking genetic information of IgA nephropathy as assistance. Research results show that genes near the loci have differential expression in pSSNS and IgAN patients, which prompts that the genes play an important role in the occurrence and development of diseases. The invention provides a molecular detection method based on the risk site, which can be used for risk assessment, auxiliary diagnosis and prognosis prediction of children's nephropathy. Meanwhile, the invention provides potential application values of the loci and related genes thereof in individualized medication and targeted therapy.

Provided in the present invention are the use of insertion / deletion polymorphism genetic markers in detecting the copy number of human chromosomal subtelomeric regions, a reagent panel for detecting the insertion / deletion polymorphisms genetic markers, and a method for detecting the copy number of human chromosomal subtelomeric regions.

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.

The invention discloses an SNP (Single Nucleotide Polymorphism) genetic marker associated with the number of live piglets born by sows and application thereof, and belongs to the technical field of pig genetic marker detection, the SNP genetic marker is located at a 213444403 bp nucleotide site of a first chromosome of a reference sequence of an international pig genome version 11.1, the basic group of the site is G or A, and the SNP genetic marker is located at the upstream 38945 bp position of a PTPRD gene. The invention also discloses an application of the SNP genetic marker in breeding of sows with high live piglet number. The SNP genetic marker can assist in increasing the number of live piglets born by the sow, provides a new marker resource for assisted selection of breeding sows, and can be used for genetic breeding of the breeding sows.

The application belongs to the technical field of biological information, and particularly relates to a method for locating ancestral haplotype genes for deep hybrid lines. In the application, the ancestral genotype of a sample to be analyzed is obtained, and then a genomic segment significantly associated with a phenotype is obtained. Then, whole genome analysis is performed. Compared with the prior art, the method for locating ancestral haplotype genes for deep hybrid lines can effectively reduce false positives, and can also be used for heterosis analysis, capture of dominant and epistatic effects between genetic markers and the like.

The present application belongs to the field of molecular biology technology and breeding of Muxuan black-bone chickens, and particularly relates to a PMEL17 gene for breast muscle blackness of Muxuan black-bone chickens and a genetic marker method thereof. The nucleotide sequence of the gene is shown as SEQ ID NO. 1. The marker method is to design a primer pair, take the genomic DNA of Muxuan black-bone chickens as a template, perform PCR amplification, obtain a sequence shown as SEQ ID NO. 4, identify whether the sequence has a mutation, and analyze the correlation between the mutation and the breast muscle blackness of Muxuan black-bone chickens. The screened gene is a gene related to the breast muscle blackness of Muxuan black-bone chickens, and further screening of a SNP related to the trait at a 553th site of the PMEL17 gene sequence can be used as a genetic marker for auxiliary selection of Muxuan black-bone chickens. Through the genetic marker, Muxuan black-bone chickens with more melanin deposition and darker color can be selected and bred, which has important significance and application value for the genetic breeding of Muxuan black-bone chickens.

The application discloses a genetic marker linked with a wheat kernel nickel ion accumulation QTL qNi.hnaas-6BS, adopts a Wheat Breeders 660K microarray chip to identify genotype data of a natural population, combines phenotype data of kernel nickel ion content of the wheat natural population, carries out whole genome association analysis (GWAS), identifies that a quantitative trait locus (QTL) qNi.hnaas-6BS for controlling wheat kernel nickel ion accumulation exists on a short arm of a 6B chromosome of the wheat, the QTL is closely linked with SNP6872, is located at the 125,482,475th nucleotide of the 6B chromosome, and the SNP6872 has C / T polymorphism. Haplotype analysis results on a population level show that when the nucleotide of the site is CC, the wheat kernel has lower nickel ion content, and is a favorable allelic genotype for limiting the accumulation of the wheat kernel nickel ion.

The present application belongs to the technical field of sample pollution evaluation, and discloses a sample cross-contamination evaluation method, device, equipment and medium, comprising: performing quality control on batch sequencing data, and performing mutation site detection and genetic marker typing according to a human reference genome sequence and a site interval file; according to the genetic marker typing result and the site interval file, the number of heterozygous genotype sites is counted and the sample heterozygosity is calculated, according to the sample heterozygosity and a preset threshold, the sample contamination state is determined; according to the copy number estimation of the sample, the allele frequency is diploid standardized correction; based on the allele frequency in the genetic marker typing result and the mutation site detection result, the cross-contamination relationship between each two samples is analyzed by using identification rules to determine the pollution source; the site for calculating the pollution proportion is selected, and the weighted average algorithm is used to calculate the pollution proportion. The sample pollution degree can be accurately estimated and the pollution source sample can be identified.

The application provides a genetic marker associated with chicken intestinal length in a KCNIP4 gene and an application thereof, and belongs to the fields of animal genetics and breeding and biotechnology.The genetic marker comprises IL_tag1 or IL_tag2; the Ensembl number of the IL_tag1 is rs316532738, corresponds to the sequence of a positive strand of a chromosome No.4 of a chicken reference genome bGalGal1.mat.broiler.GRCg7b published by NCBI, is located in the 1st intron of a gene KCNIP4, and the base at the position is T or C; the Ensembl number of the IL_tag2 is rs316953671.The genetic marker is helpful to genetically improve the intestinal length of a laying hen, is applied to the genetic breeding of a chicken, and is favorable to improving intestinal traits and obtaining a laying hen variety with better nutrient absorption.

This invention discloses the application of SNP molecular markers based on the STPG1 gene promoter in assessing bull semen quality. The SNP molecular markers include SNP2: g.-1220 T>C, where bulls with the CT genotype have significantly higher sperm motility and a significantly lower sperm abnormality rate than those with the CC genotype. In addition to SNP2, the invention also includes SNP1: g.-1234 G>A and SNP3: g.-1211 C>T. There are six haplotypes among SNPs 1-3. Compared to other haplotype combinations, bulls with H5H2 exhibit the highest sperm motility, while bulls with H3H2 exhibit the lowest sperm abnormality rate. These SNP molecular markers can serve as potential genetic markers for early identification of bull semen quality, which can not only improve breeding efficiency and reduce costs but also significantly enhance the overall reproductive performance of the herd.

This invention relates to the field of intelligent brain disease diagnosis technology, specifically providing an auxiliary diagnostic method and system based on multimodal decoupled dynamic graph learning. The method includes: acquiring and preprocessing multimodal data (such as neuroimaging, genetic markers, etc.) of the subject; extracting common pathological information and modality-specific features through a shared encoder and modality-specific encoders respectively, and optimizing the separation process using a decoupling loss function; furthermore, fusing all modality embeddings using a multi-head self-attention mechanism with a masked matrix to generate initial node representations, where the mask is used to suppress modality self-attention; subsequently, performing hierarchical dynamic graph convolution based on the node representations: in each layer, dynamically updating the graph adjacency matrix by combining the current node representation with the original features, and iteratively optimizing the node representations through message passing; finally, inputting the optimized representations into a classifier to obtain disease prediction results. This invention improves the automation performance and reliability of diagnosis.

The application relates to a primer of a MEP1B gene molecular marker related to a pig average daily weight gain trait and application thereof, and belongs to the technical field of biology. The MEP1B gene molecular marker of the application is located at the 116042900th base of chromosome No. 6 of a pig reference genome Sscrofa11.1 version 6, and has C / T polymorphism; the average daily weight gain of a pig with a TT genotype at the site is significantly higher than that of a pig with a CC genotype. The application uses forward and reverse primers to amplify a segment containing the above-mentioned molecular marker site, and Sanger sequencing is performed on the amplification product, so that the genotype of an individual can be quickly and accurately identified; the molecular marker can be used as a genetic marker for pig breeding, and pigs of a proper weight can be selected and bred; the pig average daily weight gain trait can be efficiently and accurately detected, and the pig average daily weight gain trait has important value for pig breeding and production.

The invention discloses a carbapenem drug resistance marker screening method and system based on a cross-species compressed Debrueine diagram and a medium. The method comprises the following steps: starting from whole genome sequencing data of gram-negative bacteria belonging to different species and carbapenem drug phenotypes of the gram-negative bacteria, constructing a compressed Debrueine graph based on cross-species joint data, and taking existence / deletion of nodes in the graph as unified genetic variation characteristics. Performing correlation analysis on the nodes and the drug resistance phenotypes by using a linear hybrid model to obtain a candidate node set related to the phenotypes; k-mer is extracted based on the candidate node sequence, and secondary statistical screening is completed in combination with chi-square test and mutual information; and finally determining a group of carbapenem drug-resistant genetic markers which can be applicable across species through a hierarchical feature selection strategy of random forest and XGBoost. Efficient dimension reduction of large-scale cross-species genome data, cross-species consistent variation representation and high-interpretability marker screening are achieved.

The invention discloses haplotypes related to cotton fiber strength and functional KASP molecular markers and detection application thereof, and relates to the technical field of plant molecular breeding and genetic markers. The haplotype is located in 5, 980, 849-5, 982 and 917 bp segments of a cotton reference genome D08 chromosome, is composed of seven SNP sites and can be divided into two types of Hap1 and Hap2, the KASP molecular marker is located at 5, 982 and 917 bp positions of the cotton reference genome D08 chromosome, and the basic group is A / T. The haplotype represented by the molecular marker is significantly related to the cotton fiber strength character, and a KASP detection primer developed based on the molecular marker has the advantages of accurate detection, simple operation, high flux, low cost and the like, can be used for screening early materials in cotton breeding, significantly improves the selection efficiency of the fiber strength character, and accelerates the breeding process of a new variety of high-quality cotton.

In particular, the present invention relates to a method for determining whether an animal and / or a progeny thereof is likely to have an increased heat resistance, an increased resistance to a wall lice, and / or a desired fur texture. It also provides methods for selecting or excluding an animal, one or more cells or embryos; estimating the value of the animal; producing an animal having a desired genotype / phenotype; cloning and breeding animals; and a method of forming a population.

The present invention relates to a hybrid Solanum lycopersicum plant comprising in its genome at least one copy of the Rug-1 resistance gene, wherein said Rug-1 resistance gene is capable of conferring a Tomato Brown Rugose Fruit Virus (ToBRFV) tolerance / resistance phenotype. The present invention further relates to a seed produced by the plant according to the present invention, a seed from which a plant according to present invention can be grown, a fruit produced by a plant according to the present invention and a part of a plant according to the present invention. The present invention further relates to a method of identifying and / or selecting a plant or plant part according to the present invention. The present invention further relates to a method for producing a Solanum lycopersicum plant having a ToBRFV tolerance / resistance phenotype according to the present invention. The present invention further relates to a method for enhancing the ToBRFV tolerance / resistance phenotype of a Solanum lycopersicum plant, the use of the Rug-1 resistance gene according to the present invention for enhancing the ToBRFV tolerance / resistance phenotype in a Solanum lycopersicum plant and the use of a genetic marker specific of the Rug-1 resistance gene according to the present invention for selecting a Solanum lycopersicum plant having an enhanced ToBRFV tolerance / resistance phenotype.

The present invention relates generally to genomics. In particular, the specification teaches a method of predicting subjects at risk of rheumatoid arthritis and the responsiveness of a subject towards methotrexate (MTX) treatment.

The application discloses a molecular genetic marker affecting pig sexual maturity and application thereof. The application takes RBP1 as a research object, and adopts molecular and cell biology methods to study the correlation between RBP1 and the initial estrus period. It is found that six SNP sites in the RBP1 promoter region are related to the initial estrus period. Further research shows that the promoter activity of the CC genotype of the g.80408109T>C site is significantly higher than that of the TT genotype, the promoter activity of the AA genotype of the g.80409632A>G site is significantly higher than that of the GG genotype, and it is confirmed that RBP1 can inhibit the ferroptosis of granulosa cells. It can be seen that the mutation in the RBP1 promoter region can affect the expression of RBP1, and RBP1 can accelerate the initial estrus start by inhibiting the ferroptosis of pig ovarian granulosa cells. The application has good application value for the research on ovarian follicle development and initial estrus start.

This invention provides a chromosome copy number counting method based on the relative fluorescence intensity between chromosome monosoms. This method leverages the built-in genetic markers of different chromosomes in multiplex STR typing systems. By introducing a control sample with known ploidy, and considering that the relative fluorescence intensity between two chromosome monosoms is a constant value, the ploidy of chromosomes with unknown ploidy in the test sample is calculated. This method yields accurate results that can be cross-validated with ploidy determinations based on genetic marker typing, eliminating the need for further screening of other polymorphic genetic markers or additional experimental studies to determine the ploidy of the chromosome. Furthermore, it can serve as a basis for developing corresponding software for multiplex STR typing systems. Developing corresponding analytical software based on this calculation scheme can significantly reduce manual intervention in data analysis, improve the accuracy of analytical results, and significantly reduce experimental workload.

This application discloses a method for association analysis based on high-throughput dynamic phenotypes and genetic effects, relating to the field of agricultural bioinformatics. By fitting growth curves to high-throughput dynamic phenotype data from multiple time points, the dynamic changes in the growth cycle of a biological population are obtained. A joint likelihood function algorithm is then constructed to associate this dynamic vector with genetic effects, revealing genetic markers related to growth and development trends and processes. Compared to existing GWAS methods, which can only analyze static, single-time-point phenotype data and cannot uncover genetic loci regulating biological growth and development, this application, by performing association analysis on data collected from multiple consecutive time points, can more comprehensively reveal the evolutionary patterns of phenotypes over time, thereby achieving accurate analysis of genetic markers.

This invention belongs to the field of bio-aquaculture technology, specifically relating to SNP loci related to the body color of the leopard-gill spiny perch and their applications. This invention provides SNP loci (16_797851, 13_24322516, and 9_17302939) associated with the body color of the leopard-gill spiny perch. Furthermore, this invention provides a method for mining SNP loci and a method for enhancing the red color of the leopard-gill spiny perch's skin. By employing the HSV color model, the red body color is transformed from a direct sensory representation into a continuous quantitative variable, providing a data foundation for the genetic analysis of body color traits. Based on genome-wide molecular marker screening, genetic markers significantly associated with body color traits are obtained. Combined with the administration of agonists to individuals with genetic advantages, a significant enhancement of the red color of the leopard-gill spiny perch's body surface can be achieved. Therefore, the technical solution of this invention can not only directionally improve the body color trait of the leopard-gill spiny perch and cultivate high-quality new strains with stable body color inheritance, but also promote the development of marine aquaculture and the seed industry.

An apparatus for generating personalized risk assessments for neurodegenerative diseases includes a computing device that receives user data containing genetic and medical information. It processes the data to create genotype identification and gene detection modules, identifying user genotypes and relevant genetic markers. The user's mitochondrial haplogroup is examined to refine the assessment. A risk calculation module employs machine learning to weigh genetic variants against population-based data, calculating a polygenic risk score (PRS). The PRS forms a personalized risk profile, displayed through a visual interface. The disclosed systems offer a comprehensive approach to accurate risk assessment, enabling targeted interventions and informed decision-making in neurodegenerative disease management.

A piezoelectric plate sensor comprising a piezoelectric layer; two electrodes; and an insulation layer. The insulation layer is produced by soaking the piezoelectric layer and two electrodes in a mercaptopropyltrimethoxysilane solution with an amount of water from 0.1 v / v. % to about 1 v / v % and at pH from about 8 to about 150 for a period from about 8 to about 15 hours, and the mercaptopropyltrimethoxysilane solution has a concentration of mercaptopropyltrimethoxysilane from about 0.01 v / v % to about 0.5 v / v %. A method of detecting a biomolecule in a sample using the piezoelectric plate sensor in particular, that of detecting a genetic marker with PCR sensitivity and specificity without the need of DNA isolation or amplification is also provided. The piezoelectric plate sensor may be used to diagnose various diseases including breast cancer, myocardial infarction, diarrhea, Clostridium difficile infection, and hepatitis B infection.

The invention relates to the technical field of intelligent brain disease diagnosis, and particularly provides an auxiliary diagnosis method and system based on multi-modal decoupling dynamic graph learning, and the method comprises the steps: obtaining and preprocessing the multi-modal data (such as nerve images and genetic markers) of a subject; common pathological information and modal unique features are extracted through a shared encoder and modal specific encoders respectively, and a decoupling loss function is utilized to optimize a separation process. Furthermore, a multi-head self-attention mechanism with a mask matrix is adopted to fuse all modal embedding, a node initial representation is generated, and the mask is used for inhibiting modal self-attention. Then, hierarchical dynamic graph convolution is carried out based on node characterization, in each layer, a graph adjacency matrix is dynamically updated in combination with current node characterization and original features, and the node characterization is iteratively optimized through message passing; and finally, inputting the optimized representation into a classifier to obtain a disease prediction result. According to the invention, the automation performance and reliability of diagnosis are improved.

The present application relates to a POMT1 gene molecular marker related to chicken abnormal egg trait and application thereof, and belongs to the technical field of biology.The POMT1 gene molecular marker of the present application is located at the 6831149th base of chromosome 17 of chicken reference genome GRCg7b version 17, and the base mutation is G or T, and the genotype is G / G, G / T and T / T.The abnormal egg rate of the chicken with G / G genotype is lower than that of the individuals with G / T and T / T genotypes, and the abnormal egg rate of the chicken with G / T genotype is lower than that of the individual with T / T genotype.The present application amplifies the fragment containing the above-mentioned molecular marker site by using forward and reverse primers, and performs Sanger sequencing on the amplification product, so that the genotype of the individual can be quickly and accurately identified.The molecular marker can be used as a genetic marker for chicken breeding, and the chicken with low abnormal egg rate can be selected and bred, the chicken abnormal egg trait can be efficiently and accurately detected, the population abnormal egg rate is reduced, and the chicken breeding and production have important value.

The present invention relates to a Capsicum annuum plant comprising an introgression fragment on chromosome 8 comprising Quantitative Trait Locus QTL8, wherein said QTL8 confers an improved resistance to Frankliniella occidentalis. The present invention further relates to a seed produced by the plant according to the present invention, a seed from which a plant according to present invention can be grown, a fruit produced by a plant according to the present invention and a part of a plant according to the present invention. The present invention further relates to a method of identifying and / or selecting a plant or plant part according to the present invention. The present invention further relates to a method for producing a Capsicum annuum plant having the improved resistance to Frankliniella occidentalis according to the present invention. The present invention further relates to a method for improving the resistance of a Capsicum annuum plant to Frankliniella occidentalis, the use of QTL8 according to the present invention for improving the resistance of a Capsicum annuum plant to Frankliniella occidentalis. The present invention further relates to genetic markers specific for QTL8 according to the present invention and the use thereof for selecting a Capsicum annuum plant having an improved resistance to Frankliniella occidentalis.

The invention provides an application of a gene marker, an auxiliary reproductive outcome prediction method and an electronic device. The gene marker comprises any one or more of the following components: AJUBA, AMER3, RAD51AP1, FOXD2, LSM6, MATK, SLC7A13, CTNS, CD40LG, LAMA2, OAF, ZDHHC19, BEAN1, FASN and GON4L. The method can solve the problem that in the prior art, the assisted reproduction embryonic development outcome and the assisted reproduction outcome are effectively predicted before treatment, and is suitable for the technical field of assisted reproduction outcome prediction.

The application discloses a kind of gene markers in esophagus, stomach, intestine multiple cancer early screening application, early screening model construction method and detection device, belong to the early non-invasive detection technical field of digestive tract tumor.It establishes a new type of multiple cancer screening system by analyzing the whole genome characteristics of circulating free DNA in peripheral blood.Based on low-depth whole genome sequencing data, three dimensions of molecular markers are detected: genome copy number variation pattern, DNA fragment distribution characteristics of specific length and epigenetic signals of transcription initiation region.Advanced converter neural network architecture is used, and the model can efficiently capture the complex feature correlation in the whole genome range through its unique self-attention mechanism.The model design specially considers the particularity of genomic data, and introduces an adaptive position coding system to accurately reflect the spatial distribution relationship of DNA fragments on the chromosome.The system can still maintain excellent detection performance at very low sequencing depth.