243 results about "Genetic variation" patented technology

The invention provides a gene detection and phenotype verification health detection method and system, and the method comprises the following steps: collecting multi-source data of a user, locking genetic variation highly related to disease and individual specificity through gene sequencing, and building an individualized genetic risk scoring system; wherein the multi-source data comprises gene sequencing and proteomics data of a user; performing gene phenotype coupling analysis, integrating multi-dimensional data of genes, proteins or phenotypes of the user, and constructing a health assessment system with high confidence; the intervention decision generation is used for generating a decision to intervene the user; through gene-phenotype coupling analysis, the disease risk prediction specificity of healthy people is improved, compared with a conventional health monitoring technology, risks are found in advance, the health behavior compliance rate of a user is increased, seamless connection with mainstream wearable equipment and an electronic medical record system is supported, and the utilization rate of data is increased.

Disclosed herein are methods of increasing nitrogen fixation in a non-leguminous plant. The methods can comprise exposing the plant to a plurality of bacteria. Each member of the plurality comprises one or more genetic variations introduced into one or more genes or non-coding polynucleotides of the bacteria's nitrogen fixation or assimilation genetic regulatory network, such that the bacteria are capable of fixing atmospheric nitrogen in the presence of exogenous nitrogen. The bacteria are not intergeneric microorganisms. Additionally, the bacteria, in planta, produce 1% or more of the fixed nitrogen in the plant.

The invention provides a method for constructing a rice epigenetic recombinant inbred line, and belongs to the technical field of molecular biology and genetic breeding. According to the method for constructing the rice epigenetic recombination inbred line, a fertile rice DDM1 gene function weakening mutant is obtained through a CRISPR / Cas9 gene editing technology and hybridized with wild type rice with the same background to obtain F1, then the F1 and the wild type rice are subjected to backcrossing to obtain BC1F1, single-plant offspring selfing with the DDM1 genotype being the wild type is selected, selfing is conducted for multiple generations through a single-grain transmission method, and the rice epigenetic recombination inbred line is obtained. According to the present invention, the strain population with stable inheritance is constructed, such that the rice epigenetic recombinant inbred line is obtained, and has characteristics of rich phenotype, genetic and epigenetic variation so as to provide important population resources for batch identification and the like of important agronomic shape functional sites of rice.

The invention belongs to the technical field of molecular biology, and particularly discloses a cotton 10K functional site breeding chip and application thereof. The breeding chip is named as' Cotton Core No.1 ', and comprises a 10K functional site targeting capture probe group designed based on a reference genome of disease-resistant, high-quality and high-yield modern upland cotton No.8, the probe group comprises 11159 SNP (Single Nucleotide Polymorphism) loci, 3981 of the SNP loci are functional loci associated with 13 important agronomic characters, and 7178 of the SNP loci are background loci reflecting genetic diversity; the SNP site information is shown in the specification table 1. The invention discloses a cotton 10K functional site breeding chip and application thereof, the breeding chip contains functional sites with more index function genetic variation, has higher detection accuracy among different cotton varieties, is applied to cotton molecular marker-assisted selection breeding, whole genome selection breeding and whole genome correlation analysis, and has higher detection accuracy. The breeding efficiency can be obviously improved, and the practical application is wider.

The invention discloses a phytolacca americana seed EMS mutation library establishment method, and belongs to the technical field of mutation library construction.The phytolacca americana seed EMS mutation library establishment method comprises the steps that concentrated sulfuric acid is used for pretreating phytolacca americana seeds, then germination accelerating is conducted on the seeds, and the seeds are treated with an EMS solution when the seeds are white, so that the problems that phytolacca americana seed coats are thick, and the sensitivity to EMS is low are solved; according to the mutagenesis method disclosed by the invention, high-density series allele point mutation can be induced and generated, the mutagenesis frequency is relatively high, and meanwhile, chromosome distortion is less caused. In the mutagenesis process, abundant genetic variation can be more efficiently created, and more possibilities are provided for screening mutants with excellent characters. Besides, the method has a remarkable advantage in the aspect of cost, the required chemical reagent is cheap, the experimental operation process is simple, and complicated equipment and technology are not required like common irradiation. The breeding cost is reduced, the working efficiency is improved, and wide popularization and application are facilitated.

The present disclosure provides a systems and methods for processing genetic variations and phenotypic data. The systems and methods may be used to generate one or more databases comprising genetic variations and associations with phenotypes. The system and methods may be used to determine a pathogenicity of a genetic variation. The systems and methods may comprise human interpretation using pre-determined criteria.

The invention discloses a genetic typing chip for synergistically breeding fast-growing and high-temperature-resistant characters of procambarus clarkii and an application method of the genetic typing chip. Aiming at the technical bottlenecks that the traditional procambarus clarkia breeding period is long, the character selection efficiency is low and multi-character collaborative breeding is difficult to realize, a 50K cGPS liquid-phase breeding chip, namely 'Hailongcore No.1', is constructed by taking procambarus clarkia populations of different geographical populations as genetic variation sources; single nucleotide polymorphism molecular markers obviously associated with fast-growing and high-temperature-resistant characters of the procambarus clarkii are screened through whole genome association analysis, and a breeding model is constructed according to the single nucleotide polymorphism molecular markers and is applied to improvement of economic characters of the procambarus clarkii. According to the method, rapid typing of procambarus clarkii individuals can be achieved, the problems that traditional selective breeding is long in period, poor in accuracy, low in efficiency and free of theoretical basis are solved, an efficient molecular tool is provided for improved variety breeding of procambarus clarkii, the breeding efficiency of stress-resistant high-yield new varieties is remarkably improved, and the method has important industrial application value.

The present disclosure relates to genetic copy number variation (CNV) detection. Particularly, aspects are directed to sequencing nucleic acid obtained from a biological sample obtained from a subject to generate sequencing data. The sequence reads are ordered by mapping the sequence reads to a reference genome and stored in an ordered format, A global segmentation of the target region is performed based on the stored sequence reads and a set of segments of the target region is identified and used to determine a copy number variation (CNV) metric. A first status of a genetic condition for the subject is determined based on the CNV metric, and a report of the corresponding genetic condition screening test is determined based on the CNV metric and the status.

The invention discloses a monogenic disease genetic variation intelligent interpretation method and device and a medium, and relates to the technical field of bioinformatics, and the method comprises the steps: generating an enhanced similarity matrix through a disease-specific phenotype template and a cosine similarity algorithm based on a standardized phenotype feature vector, and 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 disturbance score through a path integral formalization algorithm, and obtaining a path disturbance score; and fusing the pathway disturbance score and the dynamic weight vector, calculating a pathogenicity score through a multi-level evidence fusion algorithm inspired by a quantum field theory, and generating a comprehensive report of variation pathogenicity grading and clinical suggestions according to a thermodynamic partition function model. According to the method, nonlinear and high-dimensional collaborative modeling and thermodynamic stability optimization of heterogeneous biological evidence are realized, and the interpretability of pathogenicity judgment under a complex genetic background is also improved.

Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of nucleic acid fragments from circulating cell free nucleic acid. Also provided herein are methods for partitioning one or more genomic regions of a reference genome into a plurality of portions according to one or more features.

The invention relates to a disease-specific quantitative trait locus identification method based on multi-omics integration. The method comprises the following steps: acquiring variation sites of whole genome sequencing data of a target object, and molecular phenotypes and molecular abundance of molecular phenotype data; determining an association significance probability value of an association pair formed by the variation point and the molecular phenotype based on the variation point and the molecular abundance, and screening a first association pair from the association pair based on the association significance probability value and condition analysis; determining a consistent second association pair in the normal association pair and the disease association pair, and determining a third association pair with a disease interaction effect in the second association pair; calculating a first effect estimation value and a second effect estimation value of each third association pair; and based on the first effect estimation value and the second effect estimation value of the third correlation pair, determining a target correlation pair related to the Parkinson's disease, and taking the target correlation pair as the identified quantitative trait site. By adopting the method, the Parkinson's specific pathogenic heritable variation can be accurately identified.

Organs-on-chips are microfluidic devices for culturing living cells in micrometer sized chambers in order to model physiological functions of tissues and organs. Engineered patterning and continuous fluid flow in these devices has allowed culturing of intestinal cells bearing physiologically relevant features and sustained exposure to bacteria while maintaining cellular viability, thereby allowing study of inflammatory bowl diseases. However, existing intestinal cells do not possess all physiologically relevant subtypes, do not possess the repertoire of genetic variations, or allow for study of other important cellular actors such as immune cells. Use of iPSC-derived epithelium, including IBD patient-specific cells, allows for superior disease modeling by capturing the multi-faceted nature of the disease.

The invention relates to the field of gene detection, and particularly discloses a gene detection device and method applying Beidou satellite positioning, and the device comprises a sample collection and preprocessing module which is used for obtaining a body fluid or tissue biological sample of a user, and carrying out cell lysis, DNA / RNA extraction and purification operation on the sample; the gene sequencing analysis module is connected with the sample collecting and preprocessing module and is used for performing gene sequencing on the purified nucleic acid sample and identifying gene variation information related to tumors; the high-precision positioning capability of the Beidou system is utilized to obtain the environmental parameters of the geographic position of the user in real time, then the genetic variation data and the regional environmental carcinogenic factors are subjected to weighted fusion analysis through the risk assessment algorithm, and finally a highly personalized detection report is generated. In this way, the detection result can truly reflect the specific influence of the external environment on the individual health, and the accuracy and practicability of the report are remarkably improved.

Methods for detecting a short genetic variant in a test sample are described herein. In some exemplary methods, the short genetic variant is called using one or match scores, which are determined using one or more sequencing data sets obtained from a test nucleic acid molecule, wherein the test sequencing data sets are determined by sequencing the test nucleic acid molecule using non-terminating nucleotides provided in separate nucleotide flows according to a flow-cycle order. Also described herein are methods of sequencing a test nucleic acid molecule using two or more different flow-cycle orders and / or extended flow cycle orders having five or more nucleotide flows per flow cycle.

Provided herein are computer-implemented methods for assigning maternal or fetal origin to one or more genetic variations in cell-free DNA (cfDNA) of a sample from a pregnant mammal, preferably a pregnant human, it uses a probabilistic model for assigning maternal or fetal origin to genetic variations in DNA from a sample obtained from a pregnant mammal, where the model assigns maternal or fetal origin based on a combination of fetal fraction and DNA fragment size.

The invention discloses a comprehensive energy scheduling method and system based on genetic variation optimization, and the method comprises the steps: firstly issuing a price strategy through an energy manager based on a Stackelberg game theory, and then responding to a price signal and optimizing the own energy consumption behavior or equipment scheduling through a user aggregator, an energy supplier and an energy storage operator, therefore, a double-layer game feedback cycle taking the price as the core is formed. According to the method, a price initialization strategy inspired by improved load characteristics is designed to perform population initialization, and a more representative initial solution set is constructed, so that the convergence efficiency of the algorithm is expected to be improved from the source; meanwhile, a self-adaptive variation mechanism based on the load change rate is introduced, variation intensity is dynamically adjusted to balance exploration and utilization, and therefore the solving quality and the convergence efficiency of the algorithm are effectively improved, and the method adapts to the complex dynamic characteristics of the multi-main-body energy system.

To provide a method, process, and apparatus for non-invasive assessment of genetic variation.SOLUTION: Provided is a method for partitioning one or more genomic regions of a reference genome into a plurality of portion. The method comprises: (a) determining sequencing coverage variability across the reference genome; (b) selecting an initial portion length; (c) partitioning at least two genomic regions according to the initial portion length in (b); (d) comparing the sequencing coverage variability determined in (a) for each of the at least two genomic regions, thereby generating a comparison; (e) recalculating the number of portions for at least one of the genomic regions according to the comparison in (d), thereby determining an optimized portion length; and (f) re-partitioning at least one of the genomic regions into a plurality of portions according to the optimized portion length in (e).SELECTED DRAWING: None

The invention relates to the technical field of forest tree hybridization, and discloses a forest tree hybridization parent precise matching method based on multi-omics analysis, which comprises the following steps: S1, obtaining multi-omics data: performing genome sequencing, transcriptome analysis, proteomics analysis and metabonomics analysis on forest tree population individuals; a plurality of omics data such as genetic variation sites, gene expression quantity, protein expression abundance and metabolite spectrums are obtained. According to the forest tree cross parent accurate matching method based on multi-omics analysis, forest tree genetic characteristics are analyzed comprehensively through multi-omics data, genomics, transcriptomics, proteomics and metabonomics data are deeply fused, genetic factors closely associated with target traits are accurately identified, and the accuracy of forest tree cross parent matching is improved. According to the method, the scientificity of parent matching in forest tree cross breeding on the molecular level is remarkably improved, the fuzziness and uncertainty of traditional judgment only according to phenotype and experience are abandoned from the source, the parent matching accuracy is greatly improved, and the breeding work is more targeted and efficient.

The invention discloses a KASP molecular marker related to the oil content of peanuts and application, and belongs to the field of molecular genetic breeding, an SNP site is positioned in a peanut A03 chromosome and named as qOCA03.1, the size of a positioning interval is in a 102kb range between A03: 8591523-8693979, the SNP site is positioned at 8641246bp of the A03 chromosome, and the polymorphism is T / C. The primer sequences of the molecular marker are respectively as follows: a universal forward primer F, the nucleotide sequence of which is as shown in SEQ ID NO.1: 5 '-TTGAGCGAATACCCCATCCG-3', a universal reverse primer F, the nucleotide sequence of which is as shown in SEQ ID NO.2, a universal reverse primer F, the nucleotide sequence of which is as The nucleotide sequence of the reverse primer R1 is as shown in SEQ ID NO.2: 5 '-CGTTGCCCTTTCGAGATAATTGTT-3'; the nucleotide sequence of the reverse primer R1 is as shown in SEQ ID NO.2; and the nucleotide sequence of the reverse primer R2 is as shown in SEQ ID NO.3: 5 '-CGTTGCCCTTTCGAGATAATTGTC-3'. The invention also discloses a kit for detecting the disease resistance of the human body, and a kit for detecting the disease resistance of the human body. According to the invention, through whole genome association analysis of oil content traits, significant SNP loci related to peanut oil content are identified, and KASP primers are designed and KASP markers are developed according to genetic variation information of positioned candidate intervals and candidate genes. Based on the KASP typing technology, the genotype of the peanut sample to be detected is rapidly and accurately identified, and the breeding efficiency of the peanut variety is improved.

The invention provides an SNP (Single Nucleotide Polymorphism) molecular marker combination related to a corn plant height character, a gene chip and application of the SNP molecular marker combination and the gene chip, and relates to the technical field of plant molecular breeding, the SNP molecular marker combination comprises 21 SNP molecular markers, and the 21 SNP molecular markers are shown as SNP1-SNP21. The developed SNP molecular marker combination can be used for accurately identifying the plant height genotype of corn germplasm resources, and a novel tool is provided for molecular marker-assisted selective breeding. The molecular marker is used for identifying the genotype of the corn dwarf related site to judge the phenotype of the corn plant height, which is more efficient and more direct. Meanwhile, the screened haplotype marker of the plant height phenotype can be used for further development of a corn plant height function related site chip.

The invention discloses a porcine epidemic diarrhea virus G2c genotype strain as well as a separation method and application thereof. Aiming at the current epidemic PEDV variant strain, the genetic variation rule of the epidemic strain is clarified by carrying out virus separation, identification and pathogenicity analysis, and the method has important significance on epidemiology, vaccine development and the like of the PEDV. Specifically, an applicant successfully separates a PEDV strain capable of realizing stable passage propagation in Vero-CCL81 cells from intestinal contents of diarrhea piglets collected from a pig farm of Jiangpermanent Province in Hunan, the PEDV strain is identified and determined as a porcine epidemic diarrhea virus G2c subtype, the PEDV strain is named PEDV CH / HNJY / 2025, the PEDV strain is preserved in China General Microbiological Culture Collection Center on December 11, 2025, and the preservation number of the PEDV strain is CGMCC NO. The preservation number is CGMCC (China General Microbiological Culture Collection Center)

The invention discloses a method for determining an equipment operation strategy. Relates to the field of artificial intelligence, and the method comprises the steps: obtaining an initial operation parameter group set, determining fitness evaluation information matched with each initial operation parameter group in the initial operation parameter group set, and enabling parameters in the initial operation parameter groups to be used for indicating configuration information of equipment; determining a target operation parameter group set from the initial operation parameter group set according to the fitness evaluation information; performing genetic variation operation on the target operation parameter group set to obtain a variation result matched with the target operation parameter group set; and under the condition of determining that the fitness evaluation information matched with the variation result meets the target expected condition, determining an operation strategy matched with the equipment according to the variation result. Through the method and the device, the problem of inaccurate determination of the equipment operation strategy in related technologies is solved.

The invention discloses an evaluation method, system and device for cell specific genetic variation disturbance and a storage medium. An integrated single cell data set is used for training a variational auto-encoder, and a high-dimensional gene expression profile is mapped into a cell state vector in a low-dimensional hidden space through an encoder of the variational auto-encoder; freezing parameters of the encoder, training a conditional disturbance module by using training data with a mononucleotide variation tag, and generating conditional variation embedding; performing anti-fact prediction for target cell and target mononucleotide variation, and generating a reference prediction expression profile and a disturbance prediction expression profile through a conditional disturbance module and a decoder of a variational auto-encoder based on the original genotype and the overturned genotype of the target cell; and calculating the difference between the two to obtain the disturbance effect score of the single nucleotide variation in the target cell, and quantitatively describing and predicting the specific disturbance mode of the SNV in different cell states.

The application discloses a molecular marker for identifying salvia miltiorrhiza cultivars and application thereof, and belongs to the technical field of plant molecular identification. The molecular marker comprises SM-M1, SM-M2, SM-M3, SM-M4, SM-M5 and SM-M6. The molecular marker can be used for effectively identifying two subgroups of salvia miltiorrhiza cultivars, and is beneficial to the research on genetic variation in salvia miltiorrhiza and evolution of cultivars.

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 relates to a screening method of anti-breast cancer key targets of a traditional Chinese medicine composition for treating triple-negative breast cancer pulmonary metastasis, which sequentially comprises the following steps: component-target preliminary screening, two sample Mendel randomization, SMR and co-localization, full phenotype association and side effect evaluation, pathway enrichment, clinical expression verification, molecular docking verification and the like. After Mendel randomization (MR) and SMR are placed in network pharmacology, population genetic variation is used as a natural randomization tool, evidence of causal relationship between exposure (target level) and outcome (breast cancer risk) is provided on a public GWAS level, traditional association analysis mixing and reverse causal risk are reduced, and the false positive rate of network pharmacology prediction is greatly reduced; pheWAS-MR is introduced to perform system identification on phenotypes of various diseases, so that a potential off-target effect can be identified in advance, the multiple effects and possible adverse reactions of potential treatment targets in traditional Chinese medicine compound targets can be evaluated, powerful data support is provided for subsequent clinical test design and drug alert strategies, and the risk of later failure of research and development is effectively reduced.

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.

Disclosed are methods, systems and computer-program products for the determination of complex genetic variants. The disclosed methods, systems and computer-program products may include obtaining a mutant scaffold nucleotide sequence that comprises a sequence that includes mutations characteristic of the complex genetic variant; obtaining a wild-type scaffold nucleotide sequence having a wild-type sequence; generating an alignment of at least one sequence from the sample to the mutant scaffold and to the wild-type scaffold; and determining that the sample contains a mutation characteristic of the complex genetic variant based on alignment to the mutant scaffold and not the wild-type scaffold.

The invention provides a method and system for gene expression quantitative trait locus analysis, and relates to the technical field of genomics, the method comprises the following steps: carrying out sample and locus level quality control on input genotype data, and generating a standardized genotype matrix; performing standardization processing and low expression gene filtering on the input gene expression data to generate a standardized expression quantity matrix; performing principal component analysis according to the standardized genotype matrix to obtain a group structure covariable; carrying out implicit factor analysis on the basis of the standardized expression quantity matrix to obtain a technical batch effect covariable; quantitative character site correlation analysis is carried out through a standardized genotype matrix, a standardized expression quantity matrix, a population structure covariable and a technical batch effect covariable. The method is suitable for functional genomics research, complex disease genetic mechanism analysis and precision medical related functional genetic variation mining scenes.

The types of genetic variants detected by NGS are very wide and not all genetic variants always lead to diseases, and thus it is difficult to quickly and accurately interpret the meaning of disease relevance for detected genetic variants. The present invention relates to a method of interpreting genetic variants based on nucleic acid sequencing. The method of interpreting genetic variants according to the present invention provides a logic tree for interpreting NGS variant data, which can classify the pathogenicity of genetic variants based on the ACMG guidelines and determine the level of pathogenicity of the genetic variants, and thus it is expected to be widely used in the life sciences and medical health fields.