327 results about "Disease gene" patented technology

Disclosed are methods for detecting and/or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

The present invention provides methods, systems and equipment for the prognosis, diagnosis and selection of treatment of AML or other types of leukemia. Genes prognostic of clinical outcome of leukemia patients can be identified according to the present invention. Leukemia disease genes can also be identified according to the present invention. These genes are differentially expressed in PBMCs of AML patients relative to disease-free humans. These genes can be used for the diagnosis or monitoring the development, progression or treatment of AML.

The invention discloses a drug repositioning method based on multi-information fusion and a random walk model. According to the method, disease-target-drug heterogeneous network is constructed through integrating existing disease data, drug data, target data, disease-drug associated data, disease-gene associated data and drug-target associated data; the basic random walk model is extended to the constructed heterogeneous network; and candidate therapeutic drugs are recommended for diseases through effectively utilizing global network information. The method disclosed by the invention is simple and effective; and compared with other methods and proved by tests on a standard data set, the method has good prediction performance in the aspect of drug repositioning.

The invention relates to a disease risk predication method and system. The method comprises the following steps of: S1, receiving input gene sequencing result information; analyzing the input gene sequencing result information to obtain all mutant gene information; S2, looking up disease gene mutant information of corresponding gene sites from a precision medical knowledge base according to the gene sites corresponding to the mutant gene information, so as to obtain at least one piece of disease gene mutant information; S3, matching each piece of the disease gene mutant information with all the disease gene mutant information to obtain the similarity of each piece of the mutant gene information, and all the disease gene mutant information; and S4, obtaining a risk predication table aiming at the gene sequencing result information according to the similarity of each piece of the mutant gene information, and all the disease gene mutant information. By analyzing an association relation of susceptibility genes, mutation sites, mutation types and diseases, disease risk predication is carried out on healthy people and general disease risk grade predication is provided; disease risks in the future are reduced.

The invention provides a nervous system genetic disease gene united screening method, a kit and a preparation method thereof. The gene screening method includes: firstly constructing a whole-genome DNA library construction of a subject, then capturing a target gene sequence with the prepared nervous system genetic disease gene screening kit, then detecting the sample through a double-end 150bp sequencing mode of a high-throughput sequencing platform (Illumina HiSeq 3000), performing bioinformatic analysis of the data result, and finding out mutation information sites of genes related to nervous system genetic diseases so as to reach the genetic diagnosis purpose. The method provided by the invention can rapidly and accurately cover the exon regions of all nervous system genetic disease genes known at present.

The invention provides a variant human SLC20A2 gene and discloses that the variant human SLC20A2 gene is idiopathic basal ganglia calcification disease-causing gene. By utilizing the variant human SLC20A2 gene, diagnosis and risk evaluation can be carried out on idiopathic basal ganglia calcification disease. The invention also provides a protein coded by the variant human SLC20A2 gene, and the protein can be taken as a drug target for treating basal ganglia calcification. Besides, the invention also provides a kit used for diagnosing the idiopathic basal ganglia calcification disease and an application of the variant human SLC20A2 gene in preparation of a human idiopathic basal ganglia calcification disease gene diagnosis chip.

The invention provides a method for detecting the off-target effect of an adenine base editor system based on whole genome sequencing, and its application in gene editing, The adenine base editor system comprises a TadA:TadA*:Cas9 fusion gene and gRNA. The system can catalyze the efficient replacement of adenine (A) at a target site with guanine (G), and has a broad application prospect in human disease gene editing therapy and disease model construction. The first method for detecting the off-target effect of the ABE system in a whole genome range, called EndoV-seq method for short, is developed in the invention. The EndoV-seq method provided by the invention has a broad application prospect in the field of gene editing, especially gene editing therapy.

The invention provides a screening method of all inherited metabolic disorder genes for genetic diagnosis within an exon area, which is fast and accurate and can cover the newest inherited metabolic disorder genes. The method provided by the invention comprises the following steps of: drawing 3-5ml of blood from an individual, extracting 3-5 microgrammes of DNA (Deoxyribonucleic Acid) from the blood, interrupting and amplifying the DNA to construct a whole genome library for the patient, capturing the virulence genes by using an inherited metabolic disorder gene scanning kit provided by the invention, carrying out high-throughput sequencing by using a sequencing machine, and analyzing and finding mutation information relevant to the genes so as to obtain the mutation conditions of the inherited metabolic disorder genes of the individual to reach the purpose of accurate genetic diagnosis. Dozens of to thousands of genes and millions of loci can be captured and detected once by taking advantage of the high-throughput sequencing, and the screening method covers known 700 inherited metabolic disorders.

The invention relates to the technical field of image detection and processing, simultaneously relates to the field of bioinformatics, and in particular relates to a method for comprehensively analyzing gene sub-graph similarity probability current by use of multiple image detection technologies. The method comprises the following steps: A, data preparation of a human body gene sequence total graph and a target gene sub-graph; B, detecting the gene sub-graph similarity probability current by use of a CNN (Convolutional Neural Network); C, detecting the gene sub-graph similarity probability current by use of HOG+SVM classification; D, detecting the gene sub-graph similarity probability current by use of Adaboost+LBP feature algorithm; E, detecting the gene sub-graph similarity probability current by use of a standard correlation coefficient template matching method; F, comprehensively analyzing the probability current respectively obtained in the step B, step C, step D and step E by use of a BP neural network classifier to obtain the final probability current after the weighted summation. The method disclosed by the invention can be applied to disease gene detection and capable of fast and accurately detecting whether the human body gene sequence contains the disease susceptibility gene and predicting the disease risk of the body.

The invention discloses a targeting-based new generation sequencing deafness gene detection set and kit, and a detection method. The deafness gene detection set comprises 258 genes, 81 non CDS regions and a whole mitochondrial group. The detection method comprises the steps: designing primers for a part of or all of deafness disease genes and loci; with a to-be-tested sample DNA as a template, carrying out PCR amplification with the primers, and constructing a deafness detection gene library based on the amplified product; and according to the deafness detection gene library, establishing a sequencing template, carrying out high-throughput sequencing, and analyzing sequencing data information. The invention also discloses the related kit. Not only can conventional known mutations be detected out, but also new mutation types also can be detected out; in addition, sequencing and analysis of a large number of objective regions also can be completed within a short period of time, and positions, possible to generate pathogenic mutation, of all exons and regulatory regions of the hundreds of genes associated with deafness are subjected to related sequencing and analyzing.

Methods, systems and equipment for diagnosing or monitoring the progression or treatment of AML or MDS. This invention identifies a plurality of AML or MDS disease genes which are differentially expressed in bone marrow cells of AML or MDS patients as compared to disease-free humans. These AML or MDS disease genes can be used as molecular markers for detecting the presence or absence of AML or MDS. These genes can also be used for the early identification of MDS patients who eventually progress to AML.

The invention relates to an identification method for a genetic disease-related gene, comprising the following steps: 1) obtaining a sample of DNA in genetic disease gene family; 2) carrying out preliminary positioning of chromosomes of related genes; 3) optionally, further carrying out accurate positioning and haplotype analysis of the chromosomes of the related genes; 4) according to chromosomal localization results, taking a certain amount of DNA samples and identifying the related genes with the technology of human genome exome sequencing. The invention also relates to an identification method for related genes of hereditary spinocerebellar ataxia and a kit for the analysis of the related genes of hereditary spinocerebellar ataxia.

Disclosed is a method for determining the drug combination synergistic effect of two drugs related to a disease according to gene network and drug effective gene; the method includes that: the synergistic factors (ST1, 2) of the two drugs are determined; the drug similarity factors (AS1, 2) of the two drugs are determined; the drug combination synergistic effect of the two drugs is determined according to the product of the synergistic factors and the similarity factors. The invention can construct the disease gene network according to specific disease under research, and maps the gene of each drug effect or gene product to the network for quantitatively measuring the synergy degree of the drugs, and has the advantages of high speed, low cost and accurate results.

The invention discloses a microbial-disease relation prediction method based on the similarity and the double random walk. According to the method, firstly, the disease function similarity is constructed by utilizing the disease gene relation and the gene function similarity information. Secondly, the disease Gaussian kernel similarity is constructed according to the known microbial disease relation. On the basis of the disease function similarity and the Gaussian kernel similarity, a final similarity of diseases is integrated. The similarity of microorganisms is derived from the Gaussian kernel similarity of the known microbial disease relation. The microorganism similarity information, the disease similarity information and the known microbial disease relation information are integratedinto a double-layer heterogeneous network. In this way, the microbial disease relation prediction is carried out in the heterogeneous network by utilizing the double-random walk method. According to the method, the relation between microbial diseases can be predicted. The method provides a foundation basis for biological experiments. By adopting the method, the manpower and the material cost are saved.

The invention discloses a data analysis method for genetic disease gene testing, a system thereof and a storage medium. The method comprises the steps of inputting sample information and sequencing information of a testee; performing bioinformatics analysis on the sequencing data and obtaining an annotation result and a statistics result; performing quality control auditing on a quality index in astatistics result; performing interpretation personnel and flow distribution on a result which passes quality control auditing; determining a variation condition factor pool and performing variationevidence scoring, wherein the variation evidence scoring is used for assisted analysis for a genetic disease variation factor of the testee. The method and the system thereof perform bioinformatics analysis and quality control auditing based on the sequencing data, and performs interpretation personnel and flow distribution based on clinical phenotype information. Furthermore through variation evidence scoring, semi-automatic interpolation is realized and working efficiency is improved. Furthermore, a one-generation verifying primer database can be introduced, thereby greatly saving a primer designing process and reducing resource consumption. The data analysis method, the system thereof and the storage medium can be widely used for genetic disease gene sequencing data analysis and interpretation.

The invention discloses a method for cultivating a breeding material with broad spectrum and lasting spike blast resistance, belonging to the technical field of rice molecular breeding. The method is characterized in that with a parent of conventional rice or hybrid rice with large production extension area and excellent comprehensive characters as a recurrent parent, broad-spectrum anti-disease genes, Pigm and Pi54, are polymerized in the breeding material through continuous backcross and convergent cross and with combination of marker-assisted selection; meanwhile, representative strains are selected for performing artificial inoculation identification of spike blast, natural inducedidentification in rice blast serious areas and basic agronomic character evaluation during a total growth period, and an advanced line with excellent spike blast resistance is obtained. The agronomic characters of the advanced line bred through the method are similar to or consistent with those of the recurrent parent, and the broad spectrum and lasting resistance to spike blast is enhanced obviously.

Network-based relative proximity measures according to the present invention quantify the closeness between any two sets of nodes (e.g., drug targets and disease genes in a biological network, or groups of people in a social network). The proximity takes into account the scale-free nature of real-world networks and corrects for degree-bias (i.e., due to incompleteness or study biases) by incorporating various distance definitions between the two sets of nodes and comparison of these distances to those of randomly selected nodes in the network (i.e., the distance relative to random expectation), therefore improving processing of the network data. In brief, the proximity offers a formal framework to characterize the distance between two sets of nodes in the network with key applications in various domains from network pharmacology (e.g., discovering novel uses for existing drugs) to social sciences (e.g., defining similarity between groups of individuals).

A method of direct DNA sequencing for screening a hepatolenticular degeneration disease gene mutation site through PCR amplification. The invention relates to a method of direct DNA sequencing after the PCR amplification for screening a disease mutation site of ATP7B gene, thereby providing the basis for accurately diagnosis and prenatal diagnosis of the hepatolenticular degeneration disease. The method includes the processes of primer design, genome DNA extraction, PCR amplification, PCR product purification, PCR product sequencing and sequence comparative analysis and the like, wherein the key to decide effectiveness of the method is specificity and sensitivity of the primer. The primer in the invention is strong in specificity and high in sensitivity and is wide in coverage. The method can detect the all 21 exon regions, promoter regions and partial intron regions of the ATP7B gene, and can provide firm foundation of clinical diagnosis application of the hepatolenticular degeneration through genetic detection.

The invention provides an InDel molecular marker co-separated with cucumber powdery mildew resistance main effect gene, which is named as InDel-MLO1, and is composed of a nucleotide sequence fragment shown in a SEQ ID NO.1 and a nucleotide sequence fragment shown in a SEQ ID NO.2; wherein the nucleotide sequence fragment shown in the SEQ ID NO.1 is co-separated with the anti-disease gene, and the nucleotide sequence fragment shown in the SEQ ID NO.2 is co-separated with the anti-disease gene and susceptible gene. The InDel molecular marker has high stability, can be used for auxiliary screening of powdery mildew resistance individual plant at a cucumber seedling stage in a simple, rapid and high flux mode; According to the SEQ ID NO.5 and the SEQ ID NO.6, difference of resistance candidate gene DNA length is generated due to insertion/deletion mutation, and several pairs of codominance InDel markers can be designed as the powdery mildew resistance screened molecular marker. The InDel molecular marker establishes a base for auxiliary breeding of molecular marker of powdery mildew resistance, and can greatly accelerates the process of cucumber powdery mildew resistance molecule breeding.

The invention relates to the field of genetic diagnosis, and particularly relates to a hybrid network gene screening method based on gene expression data. According to the scheme, by introducing the gene expression data, a hybrid network gene screening method model based on the gene expression data is designed, and specific steps how to construct different networks by the gene expression data are given out; and the gene expression data is utilized to carry out more detailed and deep quantization on diseases and genes and a mutual relationship network between the genes so as to reinforce comprehensive capacity of the entire hybrid model on the aspect of disease gene screening.

Present invention relates to the Biomarkers for detecting high altitude adaptation and hypoxia responsiveness and the method thereof. The invention specifically relates to the Gene variants SNPIDs rs479200 and rs480902 in the first intron of EGLN1 (Prolyl Hydroxylase 2) gene as biomarkers for adaptation to high altitude and predisposition for high altitude pulmonary edema and hypoxia responsiveness using a novel integrative approach of phenotyping concepts of Ayurveda with population genetics, and disease genomics. More specifically, the C allele of SNP ID rs480902 and T allele of rs479200 of EGLN1 gene is more frequent in patients of HAPE and nearly absent in native highlanders. The present invention also provides primers and methods suitable for the detection of these allelic variants for the prediction of individual's adaptability to high altitude and hypoxia and/or the genetic analysis of the EGLN1 gene in a population.

The invention mainly relates to a calabash gourd anti-plague gene segment or gene marker and application. Three calabash gourd anti-plague gene segments or gene markers are rapidly separated by adopting an anti-disease gene homologous sequence method, and by sequencing, the nucleotide lengths of the gene segments or gene markers are 510bp, 498bp and 501bp. According to the calabash gourd anti-plague gene segment or gene marker and application provided by the invention, the excavation period of the calabash gourd anti-plague gene is effectively shortened, and the rapid identification of plague gene is facilitated; the identified plague gene can be used for developing corresponding coseparation functional markers (SNP (single nucleotide polymorphism), SCAR (sequence-characterized amplified region) and the like), and can also be rapidly used for assisted selection of a molecule marker of the anti-plague gene, and the accuracy is high; development of multi-resistance breeding materials can be carried out by combining with other anti-disease gene molecule markers, the breeding time is shortened and the breeding efficiency is improved; and foundation is established for expounding the molecular mechanism of the anti-plague gene.