435 results about "Candidate Gene Association Study" patented technology

The invention relates to the technical field of biological information, and provides a thermodynamic parameter-based dsRNA / siRNA target sequence design method, which comprises the following steps of: standardizing coding sequences of candidate genes; presetting a reading frame, and segmenting the coding sequence of the candidate gene through translation of the reading frame to obtain a plurality of candidate dsRNA / siRNA target sequences; the candidate dsRNA / siRNA target sequences are read and analyzed, and base pairs of all the candidate dsRNA / siRNA target sequences are obtained; presetting thermodynamic parameters of all the base pairs, calculating the sum of the thermodynamic parameters of all the base pairs, and obtaining final thermodynamic parameters of the candidate target sequence in combination with the correction parameters; and calculating the score of each candidate dsRNA / siRNA target sequence according to the thermodynamic parameters, and determining the candidate dsRNA / siRNA target sequence with the highest score as the optimal dsRNA / siRNA target sequence.

A molecular marker related to body weight traits of Hu sheep and an application are provided. The whole genome sequencing of Hu sheep is carried out in the invention, the combination of QTL and GWAS is adopted, the candidate genes related to the weight traits are analyzed and the three molecular markers of MAP3K1, ABCB1, and MEF2C are selected as candidate genes for the weight traits of Hu sheep, and the two molecular markers of ANKRD55 and TRNAW-CCA-87 can be used as potential candidate genes for the weight traits of Hu sheep, these candidate genes can be used as molecular markers for application, the guidance of Hu sheep breeding will help to understand the genetic mechanism of weight traits of Hu sheep and further guide Hu sheep breeding.

The invention belongs to the technical field of pepper planting, and discloses a pepper multi-branch gene CaBr1 linked KASP molecular marker as well as a primer, a kit and application thereof, the KASP molecular marker takes pepper S8 (zhangshuang) as a reference genome, and the single nucleotide polymorphism at the 103175415th basic group on the No.8 chromosome is subjected to basic group G-to-A replacement. A chromosome region closely linked with multiple branches of the pepper is obtained by using a BSA (Bovine Serum Albumin) population positioning method, a molecular marker is developed in a candidate region to determine a candidate gene CaBr1, a KASP molecular marker is screened according to base mutation of the candidate gene, and the marker is used for carrying out genotype identification on 90 randomly sampled single plants of an F2 population, and the coincidence rate reaches 100%. The result not only contributes to pepper branch phenotype identification and assistant breeding, but also lays a foundation for map-based cloning of the branch gene and analysis of a molecular mechanism of pepper plant type regulation.

The invention provides an EGFR wild-type lung adenocarcinoma prognosis risk assessment method based on multi-omics and machine learning, and the method comprises the steps: obtaining multi-omics and clinical data of lung adenocarcinoma, obtaining a data set, and carrying out the multi-omics consensus clustering, and obtaining a molecular typing result; high-risk subtype specific candidate genes are identified, a candidate prognosis gene set is obtained, multi-algorithm machine learning comparison optimization is carried out, and a modeling strategy is obtained; performing feature screening and model training to obtain a multi-omics feature model so as to calculate an individual risk score of the to-be-tested sample; the individual risk score and the clinical staging information are utilized to obtain a clinical column diagram and a survival prediction result, then the flow of the multi-omics feature model, the individual risk score and the survival result is Web to obtain a clinical system, and a lung adenocarcinoma prognosis risk assessment result is output. The invention can realize an objective, accurate, generalizable and multifunctional prognosis evaluation and treatment guidance tool, and has important clinical application value and wide industrialization prospect.

The invention belongs to the technical field of plant genetic engineering molecular breeding, and particularly relates to application of wheat TabHLH93 protein or a coding gene thereof in regulation and control of plant grain development. According to the invention, a binary expression vector capable of realizing ectopic expression of the TabHLH93 gene is constructed and is genetically transformed into common wheat to obtain a progeny with high expression of the TabHLH93 gene, so that overexpression of the TabHLH93 gene is realized, and it is verified that the TabHLH93 has a function of regulating and controlling the size of wheat grains and also has an important regulation and control effect on agronomic characters such as wheat plant height, tiller number, spike length and thousand seed weight. A candidate gene with an important application prospect is provided for wheat high-yield genetic improvement, and the gene has important significance for guaranteeing grain safety.

The invention provides an immunotherapy reaction marker identification method and system based on a cooperative game theory, and relates to the technical field of intelligent medical treatment, and the method comprises the following steps: obtaining immunotherapy single cell sequencing data, and determining a candidate gene set through differential expression analysis; extracting regulation and control relation pairs of the candidate gene set to obtain a multi-level information gene regulation and control network; embedding the multilevel information gene regulation and control network by adopting a Node2vec algorithm to obtain a network module containing potential biological functions, calculating the contribution degree of each gene feature to model prediction based on a Myerson value, and obtaining a feature importance sequence; combining the optimal features of the modules into a global candidate set; and iteratively optimizing the global candidate set, and outputting a target immunotherapy reaction marker set. Through a Myerson value principle in a cooperative game, a biomarker set related to immunotherapy response is efficiently searched, deep analysis of a drug resistance mechanism is realized, the accuracy and robustness of marker screening are improved, and the method serves for cancer clinical scheme customization.

The invention relates to the technical field of molecular markers, in particular to an Indel molecular marker related to yellow leaves of a melon seedling growing point and application of the Indel molecular marker. The invention explores a key candidate gene MELO3C016136 for controlling the leaf color of the growth point of the muskmelon seedling, and develops an Indel molecular marker ygp2 for identifying the leaf color change of the growth point of the muskmelon seedling based on the key candidate gene MELO3C016136. The molecular marker ygp2 can be used for identifying the leaf color change character of the growth point of the muskmelon seedling, only one-time PCR amplification and polyacrylamide gel electrophoresis need to be carried out on the DNA of the plant to be detected, the identification result is reliable, the genotype of the target plant can be simply and conveniently identified, and the genotype identification result is completely consistent with the leaf color phenotype of the growth point of the seedling; important technical support is provided for creating new muskmelon germplasm with yellow seedling growing point leaves.

The invention relates to the technical field of cotton alkali-resistant gene mining, and particularly discloses a method for jointly screening key genes responding to upland cotton alkali stress based on transcriptome and metabolome, which comprises the following steps: carrying out alkali stress treatment on upland cotton to obtain tissue samples at different time points; performing transcriptome sequencing and metabolome sequencing on the tissue sample to respectively obtain gene expression data and metabolite data; performing difference analysis on the gene expression data and the metabolite data to obtain DEGs and DAMs; carrying out conjoint analysis on the DEGs and the DAMs, and screening to obtain a key gene and a regulatory pathway which respond to alkali stress; analyzing the key gene and the regulatory pathway through a gene expression verification technology to obtain an expression mode; according to the invention, 15 candidate genes related to the alkali resistance of the upland cotton are screened through WGCNA, a theoretical basis is provided for deeply knowing the molecular mechanism of the alkali resistance of the upland cotton, and a new gene resource is provided for subsequent research.

The invention belongs to the technical field of plant genetic engineering, and discloses application of an OsSRO1c gene in controlling high-temperature resistance of rice. The OsSRO1c gene capable of improving the drought tolerance of rice is obtained through separation, cloning and functional verification, the nucleotide sequence of the OsSRO1c gene is as shown in SEQ ID NO.1, and the sequence of protein coded by the gene is as shown in SEQ ID NO.2. The gene OsSRO1c for controlling rice high-temperature response is cloned, CRISPR mutant phenotype identification is carried out on candidate genes, high-temperature stress phenotype identification in a seedling stage and an adult-plant stage shows that when a gene segment is deleted, the high-temperature resistance of rice is reduced, and when the expression quantity of the gene is increased, the high-temperature resistance of rice is improved, and the function and the application way of the gene are proved.

The invention discloses an SNP (Single Nucleotide Polymorphism) marker-based rice disease resistance character whole genome association analysis method, which relates to the technical field of biology, and is characterized by comprising the following steps: selecting a representative genetic recombination population, carrying out high-density SNP genetic typing on the population, and combining recombination event positioning and linkage analysis to obtain the disease resistance character whole genome association analysis of rice. Obtaining genetic parameters reflecting recombination frequencies of different genome segments; on the basis of the obtained original genetic data, parent and offspring genotype information is further integrated, fine positioning and statistics are carried out on recombination breaking points, and a high-resolution genetic map is constructed. By constructing a high-resolution genetic map and combining feature engineering and machine learning, accurate identification and dynamic SNP encryption of a high-recombination region are realized, the marker coverage and associated signal capture capability of the region is enhanced, the functional site leak detection risk is reduced, and the detection efficiency is improved. The positioning accuracy and the molecular breeding application effect of the rice disease resistance character related candidate gene are improved.

The invention provides an AbAIL5 gene and application of the AbAIL5 gene in improvement of genetic transformation efficiency of amorphophallus bulbifer, and belongs to the technical field of biology. The invention provides an AbAIL5 gene. The nucleotide sequence of the AbAIL5 gene is shown as SEQ ID NO: 1. Genetic transformation is performed on the amorphophallus bulbifer somatic embryo by constructing an overexpression vector of the AbAIL5 gene, so that the genetic transformation efficiency of the amorphophallus bulbifer callus can be improved, and candidate genes are provided for application of a large-scale breeding technology and a genetic transformation technology of the amorphophallus bulbifer callus in good varieties.

The present disclosure relates to a multi-phase method for determining a set of candidate genes. During a first phase, the method includes prompting a naïve language model with a plurality of prompts corresponding to a plurality of candidate genes to generate a set of initial scores indicative of each corresponding candidate gene's potential as a biomarker or therapeutic target. During a second phase, the method includes determining, for each candidate gene, a set of relevant documents from a curated document library. The method also includes prompting a further language model using the relevant documents to generate secondary scores. During a third phase, the method includes determining, for each candidate gene, at least one of: a decision classification, a recalibrated score, and a detailed scientific explanation. The method includes determining a final candidate set and conducting a multi-dimensional optimization analysis on each candidate gene of the final candidate set.

The invention discloses dsRNA / fused dsRNA for RNAi targeting multiple aphids and application of the dsRNA / fused dsRNA, and the dsRNA targets an aphid Actin gene and / or an ELAV-like protein gene and is obtained by transcription by taking the aphid Actin gene and / or the ELAV-like protein gene as a template. Compared with the traditional design thought that dsRNA of pests mostly aims at one pest and is targeted to a single gene at present, the strategy is changed, starting from the thought that one dsRNA can prevent and treat various aphids, highly conservative genes of various aphids are found, the dsRNA is designed for the highly conservative genes, and it is found that in a plurality of candidate genes, various aphids can be effectively prevented and treated. The dsRNA aiming at the actin Actin gene and the ELAV-like protein gene has a remarkable fatality rate on various aphids and has a very good application prospect, the effect of simultaneously targeting the fused dsRNA of the two genes is further improved, and the dsRNA has a remarkable insecticidal effect on various aphids.

The invention provides an MsLEA3 gene and application thereof, and belongs to the technical field of plant genetic engineering. According to the invention, the alfalfa MsLEA3 gene is subjected to overexpression or gene editing is carried out on the MsLEA3 gene in alfalfa through a CRISPR / Cas9 system, so that an overexpression transgenic line of the alfalfa MsLEA3 gene or a gene editing transgenic line aiming at the alfalfa MsLEA3 gene is obtained. The salt tolerance of an overexpressed or gene-edited medicago sativa transgenic line of the MsLEA3 gene is remarkably improved, the MsLEA3 gene can be used for cultivating medicago sativa varieties with high salt resistance, a new theoretical basis and candidate genes are provided for cultivating new varieties of high-resistance leguminous forage, and the application of medicago sativa in production is greatly promoted.

The invention discloses a construction method of a non-small cell lung cancer classification prediction model. The construction method comprises the following steps: S1, acquiring data of a training set sample and clinical feature data corresponding to the sample; s2, acquiring immune related gene data; s3, extracting prognosis genes related to non-small cell lung cancer metastasis traits and expression conditions of the prognosis genes from the data of the training set samples in the step S1, and intersecting the prognosis genes and the expression conditions of the prognosis genes with the immune related gene data in the step S2 to obtain intersection genes as candidate genes; s4, screening the candidate genes in the step S3 to obtain immune characteristic genes and expression conditions thereof; and S5, constructing a model based on the immune characteristic gene in the step S4 to obtain a classification prediction model. The method comprises the following steps: screening out key immune characteristic genes and expression conditions thereof by combining immune-related gene data, and constructing a classification prediction model according to the key immune characteristic genes; and inputting gene expression data of a to-be-detected sample into the classification prediction model to classify the to-be-detected sample to be high-risk or low-risk.

The invention discloses an Euphorbiaceae GWAS site gene data analysis platform, and relates to the technical field of gene data analysis, the platform is based on Euphorbiaceae GWAS conservative analysis, GWAS data is utilized to obtain genetic information of other Euphorbiaceae species, data are shared among the Euphorbiaceae species through data migration, more data are integrated, and the genetic information of other species is obtained. The Euphorbiaceae species omics data analysis and other Euphorbiaceae database data analysis are presented through a data analysis platform; and the database platform comprises a Plants module, an Express module, a Syntenic module, an Interaction module, a Tools module and a Search module. The database platform comprises a Plants module, an Express module, a Syntenic module, an Interaction module, a Tools module and a Search module. According to the invention, multi-angle conservative analysis is carried out by using GWAS loci of different species in a family, the conservative relationship and level among different species are judged, and candidate genes are searched based on a region with a relatively conservative character; new species omics data, new data types and tools of the Euphorbiaceae data platform are added, and convenience is better provided for researchers.

The invention discloses a rape grain weight regulation gene NGAL3 based on whole genome screening and a breeding application thereof, based on the seed size and grain weight phenotypic value of a cabbage type rape germplasm resource, a candidate gene interval is positioned by using GWAS; the method comprises the following steps: selecting large-grain-weight and small-grain-weight extreme phenotypic materials, performing transcriptome sequencing in a critical period of seed development, and screening differential expression genes; and performing cross comparison on the GWAS candidate gene and the differential expression gene to obtain a key gene for jointly regulating and controlling the size and the grain weight of the seed, and performing functional verification on the key gene. The thousand seed weights of the created homozygous three mutant strains L1-sg1-1-4-5 and L2-sg1-4-8-16 are obviously increased by 46% and 29% compared with those of the wild type strains. The invention provides a new target for high-yield rape breeding, and non-transgenic high-grain-weight germplasm can be created through gene editing or beneficial allelic variation of NGAL3 is selected and enriched under the assistance of molecular markers.

The invention belongs to the technical field of agricultural biology, and provides a soybean drought stress tolerance gene and application thereof, and the nucleotide sequence of the gene comprises a CDS sequence as shown in SEQ ID NO: 1; the nucleotide sequence has at least 90% of homology with the sequence shown in SEQ ID NO: 1 and is used for coding a protein with a drought stress response function; one or more nucleotides are substituted, deleted or inserted in the sequence as shown in SEQ ID NO: 1, and a nucleotide sequence of a protein with a drought stress response function is coded; according to the application disclosed by the invention, the direct association between the soybean gene Gm12g076200 and the drought stress tolerance is clarified, and the deletion of the soybean gene Gm12g076200 causes a soybean drought sensitive phenotype, so that the research blank of the gene on the stress response function is filled; the deletion of the gene can significantly reduce the tolerance of the soybean to drought stress, and the expression quantity is significantly increased under the drought stress, so that a key candidate gene is provided for research of a soybean drought-resistant molecular mechanism.

The invention belongs to the field of biology, and particularly relates to a rhododendron molle heat shock protein RmHSP20-4 gene and application thereof. The RmHSP20-4 participates in response of rhododendron molle to high-temperature stress, and can be used for screening high-temperature tolerance germplasm of rhododendron molle and evaluating high-temperature tolerance of sheep. The gene is transferred into a prokaryotic expression strain, the growth of the transgenic strain under the stress of CdCl2 and high temperature is obviously improved, and the RmHSP20-4 gene and a protein coded by the RmHSP20-4 gene provide candidate genes for the cultivation of Rhododendron molle heavy metal resistance, high temperature stress resistance and other related varieties. A new candidate gene resource is provided for cultivating transgenic plants or microorganisms with excellent shapes such as heavy metal resistance and high temperature stress resistance, and an important reference is also provided for mining heat-resistant genes of azaleaceae plants.

The invention discloses a gene PtoXTH30 capable of improving drought resistance and salt resistance of poplar and application of the gene PtoXTH30, the nucleotide sequence of the gene is shown as SEQ ID NO.2, the gene can accurately regulate and control the drought resistance and salt resistance of the poplar, and a key candidate gene is provided for stress-resistant molecular breeding of the poplar. The invention further discloses application of the PtoXTH30 gene for improving drought resistance and salt resistance of the poplar, and the drought resistance and salt resistance of the poplar can be remarkably enhanced. The invention further discloses a method for regulating and controlling drought resistance and salt resistance of the poplar, the drought resistance and salt resistance of the poplar can be accurately regulated and controlled according to needs, the breeding period is effectively shortened, and breeding of new drought-resistant and salt-resistant transgenic varieties is facilitated.

The invention discloses a polyamine transporter encoding gene HvPUT5 derived from highland barley and application of the polyamine transporter encoding gene HvPUT5 in improvement of cell osmotic stress tolerance, and relates to the technical field of plant stress resistance molecular breeding and functional gene mining. The HvPUT5 is positioned in cytoplasm, and the over-expression of the gene in a yeast system can obviously improve the survival rate of the yeast under the condition of high osmotic pressure, which indicates that the gene has a positive effect on enhancing the osmotic stress tolerance. The HvPUT5 has a good application prospect, can be used as a candidate gene resource and a molecular marker for drought-resistant breeding, and is applied to genetic improvement and molecular breeding research of crop stress resistance characters.

The invention discloses a QTL (Quantitative Trait Loci) influencing wheat plant height as well as a candidate gene TaMYB-A1 and application thereof. The QTL is QPh-7A-1534 and is located on a 7A chromosome, and the genetic interval of the QTL is 1528.3 cM to 1542.6 cM. A candidate gene exists on the QTL-QPh-7A-1534, specifically, the candidate gene is TaMYB-A1, and the nucleotide sequence of the candidate gene is as shown in SEQ ID No. 1. The candidate gene TaMYB-A1 is subjected to gene editing, and experiments prove that the TaMYB-A1 gene can influence the plant height of wheat, so that the genetic improvement and molecular breeding of the plant height character of wheat are facilitated, and the screening of wheat varieties can be accelerated to obtain dwarf wheat varieties.

The invention discloses a KASP molecular marker for identifying pepper floral leaf generation and application of the KASP molecular marker. According to the invention, the strongest candidate gene for controlling the character of the pepper flower leaf is determined through construction of a genetic map linked with the character of the pepper flower leaf and development of a molecular marker, and a KASP marker and a primer capable of identifying the generation of the pepper flower leaf are obtained through research and can be used for detecting or screening different pepper leaf types, identifying the pepper flower leaf and performing pepper leaf type typing; meanwhile, the invention provides a method for pepper mosaic typing or pepper normal leaf plant breeding, a large amount of genotype sequencing analysis is not needed, plants with different leaf types can be identified and distinguished through conventional detection amplification in a laboratory, the method is convenient and easy to operate, pepper mosaic screening and identification can be carried out in advance, the breeding screening time is shortened, and the breeding efficiency is improved. Meanwhile, more excellent pepper germplasm resources are provided, and technical support is provided for pepper germplasm identification and strain breeding.

The invention provides application of an MsMYBS3 gene or a biological material thereof in regulation and control of plant cold resistance, and belongs to the technical field of plant genetic engineering. The amino acid sequence coded by the MsMYBS3 gene disclosed by the invention is as shown in SEQ ID NO. 4. The invention provides an application of a medicago sativa MYB transcription factor gene MsMYBS3 in the aspect of regulating and controlling the cold resistance of medicago sativa. A gene editing technology is adopted to directionally change the development and the cold resistance of the medicago sativa. The cold resistance of an MsMYBS3 gene editing strain constructed by the invention is reduced, and the MsMYBS3 gene has the effect of regulating and controlling the cold resistance of alfalfa, so that a theoretical basis and a candidate gene are provided for cultivating new varieties of high-resistance leguminous forage, and the application of alfalfa in production is promoted.

The invention relates to the technical field of agricultural biology, in particular to a verticillium dahliae heat shock protein 90 ATP enzyme activating factor VdAHA1 as well as a coding gene and application of the verticillium dahliae heat shock protein 90 ATP enzyme activating factor VdAHA1. The invention provides a verticillium dahliae heat shock protein 90 ATP enzyme activating factor VdAHA1 related to high temperature resistance, drug resistance, environmental adaptability, ergosterol synthesis capability and pathogenicity of verticillium dahliae and a coding gene of the VdAHA1, and the VdAHA1 gene positively regulates the pathogenicity of verticillium dahliae and can be used as an important candidate gene for pathogenesis research of verticillium dahliae. The invention provides a theoretical basis for further understanding the pathogenic mechanism of pathogenic bacteria, also provides a new gene resource for verticillium dahliae pathogenic related genes, also provides a new idea for prevention and control of cotton verticillium wilt, and has a wide application prospect.

The invention provides a method for detecting genes related to early growth traits of Inner Mongolia down producing goats based on copy number variation (CNV). The method comprises the following steps: acquiring whole genome re-sequencing data of 461 Inner Mongolia down producing goats; the method comprises the following steps: detecting autosomal CNV by using CNV native software, and screening out 26,003 non-redundant CNV which covers 1, 015.4 Mb (38.97%) of an autosomal genome; gWAS analysis is carried out on the basis of CNV, 11 CNVs obviously related to early growth traits (birth weight CSZ, weaning weight DRZ, daily gain ADG before weaning and 12-month-old weight ZWT) are identified, and two CNVs influence ADG and DRZ at the same time; seven key candidate genes (ZN845, SOX15, FGF11, GPS2, DVL2, SPRY4 and STAT2) are analyzed and identified through bioinformatics, and GO and KEGG function enrichment analysis is utilized to find that the genes participate in biological pathways such as cell proliferation, differentiation and protein phosphorylation. The invention provides a theoretical basis for molecular marker-assisted breeding of Inner Mongolia down producing goats, and has important scientific value and application prospect.

The invention provides an application of a rape RPM1 interaction protein BnaRIN4 in regulating and controlling the oil content of rape seeds. On the basis of whole genome association analysis and whole transcriptome association analysis, a candidate gene BnaRIN4 for regulating and controlling the oil content is predicted, a homozygous mutant material with deletion of the gene BnaRIN4 function is further created through a transgenic technology, and the gene plays an important role in negative regulation and control of the oil content of the rape seeds, so that the application of the gene in negative regulation and control of the oil content of the rape seeds is realized. By specifically knocking out or mutating the gene, a novel rape germplasm of which the oil content of the seeds is remarkably improved can be obtained. The invention discloses the biological function of the gene in regulating and controlling the oil content of rape seeds for the first time, and provides theoretical basis and technical support for molecular breeding of high-oil-content rape varieties.

The invention discloses a method, a device and equipment for identifying a communication relationship between cells, and a storage medium, and relates to the technical field of bioinformatics, direct causal contribution between the cells is quantified by using a causal association relationship of a source cell gene to a target cell gene, the communication relationship between the cells can have explanatory force at a causal level, and the identification accuracy of the communication relationship between the cells is improved. Further, the overall regulation effect among the cell populations is accurately evaluated. The method comprises the following steps: acquiring gene expression data of different cell types, wherein the different cell types at least comprise source cells and target cells; aiming at the candidate genes of the target cell, constructing different hypothesis models by using the covariable gene set, and determining a causal association relationship between the source cell gene and the target cell gene through the different hypothesis models; and calculating the communication intensity of the source cell to the target cell according to the causal association relationship of the source cell gene to the target cell gene, so as to identify the causal regulation relationship between the cells through the communication intensity.

Provided is a PagHB7a gene related to the salt tolerance and drought tolerance of poplar. The gene is used to create new germplasms of salt-tolerant and drought-tolerant 84K poplar (Populus alba×Populus glandulosa). Being a candidate gene related to the salt tolerance and drought resistance of poplar, the PagHB7a gene provides an important gene resource for breeding new varieties of salt-tolerant and drought-resistant poplar, and can be directly used for molecular-assisted breeding of stress-resistant poplar. In addition, a primer pair for amplifying the candidate gene and a transgenic modification method for poplar are provided, which can evaluate the stress resistance of poplar on the molecular level; on this basis, varieties with remarkable stress resistance can be accurately and efficiently screened, thus effectively shortening the breeding period of poplar.

The invention discloses a method and a system for assisting in inputting clinical information of rare diseases and analyzing gene mutation based on phenotypes. The method comprises the following steps: firstly, acquiring clinical information in voice, text and image forms of a patient through a multi-source data acquisition module, converting the clinical information into characters, and performing entity recognition and standardization processing to generate structured medical record data; secondly, extracting clinical phenotypes from the structured data; furthermore, a candidate gene list is obtained according to the gene-disease relationship, comprehensive scoring and sorting are carried out, and a concerned gene list is output. According to the method, efficient structured input and standardization of clinical information are realized, the accuracy and automation level of phenotype-gene matching are remarkably improved, the gene variation interpretation period is effectively shortened, and intelligent support is provided for precise diagnosis of genetic diseases.