15 results about "DNA Methylation Site" patented technology

The application discloses a DNA methylation site marker for detecting hepatocellular carcinoma, a multiplex dPCR kit and a diagnostic model construction method. The DNA methylation site marker comprises cg02829688, cg13080379, cg03760839, cg10703826, cg12664119, cg16990168 and cg23371746 sites. The application designs a primer probe group for the above sites, constructs a multiplex dPCR kit of a double reaction system, realizes quantification of target DNA methylation sites, takes the methylation levels of the 7 sites as characteristic variables, adopts an XGBoost algorithm and / or an LR algorithm to construct a diagnostic model. Experimental verification shows that the model can effectively distinguish hepatocellular carcinoma patients from liver cirrhosis, chronic hepatitis B, metabolic dysfunction-related fatty liver disease patients and healthy individuals, especially shows good efficiency in auxiliary diagnosis of early hepatocellular carcinoma, and provides a new technical scheme for clinical diagnosis and screening of hepatocellular carcinoma.

The embodiments of the present specification provide a DNA methylation site combination as a bladder cancer marker, a detection reagent of the DNA methylation site combination, and a use of the DNA methylation site combination or the detection reagent thereof in the preparation of a kit for bladder cancer screening, bladder cancer risk prediction, evaluation of bladder cancer treatment effect, and / or screening of bladder cancer treatment drugs. The DNA methylation site combination described in the present specification has good sensitivity and specificity, shows significant differences in methylation levels between known bladder cancer patients and non-bladder cancer patients, and can be used as a marker for bladder screening, bladder cancer risk prediction, etc., and can also be used to design diagnostic reagents or kits. The embodiments of the present specification also provide devices and kits for bladder cancer screening or bladder cancer risk prediction.

This application relates to the field of gene detection technology, and in particular to the application, kit, and method of DNA methylation site in the diagnosis of type 2 diabetes. This application demonstrates through clinical testing that the methylation site cg06087988 shows significant differences between patients with type 2 diabetes and those without, and can be used for the diagnosis / prediction of type 2 diabetes.

The invention provides a gene composition for screening or diagnosing Parkinson's syndrome and application of the gene composition, and belongs to the technical field of biology. The invention provides a set of seven genes in brain tissue, a set of eight genes in cerebrospinal fluid, a set of ten genes in blood and a set of eight DNA methylation sites in blood, and at least one of the sets can be used as a marker for screening or diagnosing Parkinson's syndrome. Meanwhile, based on the genotype, expression level or methylation level data of the marker, a model for diagnosing the Parkinson's syndrome is constructed by combining a maximum logic intelligent classifier, and the subtype of the Parkinson's syndrome is determined. The method does not depend on a p value and multiple inspection correction, but establishes the model by searching the minimum and optimal gene combinations capable of perfectly distinguishing cases and contrasts, thereby fundamentally avoiding the problems of overfitting and insufficient statistical efficacy.

Provided are a DNA methylation site combination as a bladder cancer marker, a detection reagent for the DNA methylation site combination, and a use of the DNA methylation site combination or the detection reagent thereof in the preparation of a kit for bladder cancer screening, bladder cancer disease risk prediction, bladder cancer treatment effect evaluation and / or screening of bladder cancer treatment drugs. The DNA methylation site combination has good sensitivity and specificity, exhibits significant methylation level differences in known bladder cancer patients and non-bladder cancer patients, and can be used either as a marker for bladder screening, bladder cancer risk prediction, etc., or for designing a diagnostic reagent or kit. Further provided are a device and kit for bladder cancer screening or bladder cancer disease risk prediction.

The invention provides a DNA methylation site identification and detection system based on data enhancement and a Bert model, the system comprises a data cleaning module, a data enhancement module, a data dimension raising module, a coding module, a feature extraction module, a classification module and a test module, the system firstly combines data enhancement with embedding, the dimension of the data is raised into a large-scale matrix, and the large-scale matrix is subjected to coding; the receptive field of data is increased, the effectiveness of system feature detection is improved, and meanwhile, the interpretability of the detection system is improved; and extracting abundant features by using a multi-head attention mechanism and a feedforward full-connection network in a Bert model, and performing methylation species site identification in combination with cross entropy. According to the method, data enhancement and the Bert model are combined, so that the DNA methylation site recognition result of the system is better and is generalized to the field of RNA methylation site recognition, and the detection result is very good.

This invention provides a DNA methylation biomarker, kit, and device for detecting type 2 diabetes, relating to the field of disease diagnostic technology. The DNA methylation biomarker provided by this invention exhibits high sensitivity and specificity. It can be detected using the TaqMan probe method, and the detection is convenient, safe, and suitable for large-scale screening. The kit provided by this invention includes primers and probes for detecting the methylation level of the DNA methylation site cg27467803. By detecting the methylation degree of the DNA methylation site cg27467803, the risk of developing type 2 diabetes in a subject can be predicted, providing a basis for the early prediction and diagnosis of type 2 diabetes. The device provided by this invention has a simple structure and can accurately detect the risk of developing type 2 diabetes in a subject.

The present application relates to DNA methylation sites related to new acute coronary syndrome and application thereof, and belongs to the field of medical molecular biology. The DNA methylation sites in the present application are 26 new ACS-related DNA methylation sites such as cg00660626, cg24395386, cg01057742 and cg18157738, and the application prospect thereof in ACS pathogenesis, risk prediction and early warning is studied. The new ACS-related DNA methylation sites and corresponding target genes provided by the present application will: provide new pathogenesis and potential prevention and treatment targets of acute coronary syndrome; significantly improve the risk prediction efficiency of acute coronary syndrome, facilitate the identification of high-risk individuals; and serve as an early screening marker for acute coronary syndrome.

The invention discloses a site, a primer, a kit and a method for detecting cervical cancer DNA methylation, a DNA methylation site LRFN5 is obtained through library construction, hybrid capture, high-throughput sequencing and qMSP detection on a cervical cancer tissue sample through screening, and it is found that the LRFN5 site has differentiated expression in the early stage (1-2 stages) of CIN compared with cervical cancer samples in other stages, so that the DNA methylation site LRFN5 can be used for detecting cervical cancer DNA methylation. Therefore, the site can be used for early recognition of the cervical cancer, and early diagnosis and early treatment of the cervical cancer are facilitated.

The application provides a DNA methylation marker cg22131907, a kit and a device for detecting type 2 diabetes, and relates to the technical field of disease diagnosis.The DNA methylation marker provided by the application has high sensitivity and strong specificity, the marker can be detected by using a Taqman probe method, and the detection is convenient, safe and easy to mass screen.The kit provided by the application comprises primer probes for detecting the methylation level of the DNA methylation site cg22131907, the incidence risk of type 2 diabetes of a subject is predicted by detecting the methylation degree of the DNA methylation site cg22131907, and basis is provided for early prediction and diagnosis of type 2 diabetes.The device provided by the application has a simple structure and can accurately realize detection on the occurrence risk of type 2 diabetes of a subject.

The invention relates to the technical field of biology, in particular to a DNA methylation marker for evaluating the occurrence risk of cognitive impairment and application of the DNA methylation marker, and finds that 15 DNA methylation markers can be used for predicting the occurrence risk of cognitive impairment. From the perspective of reducing the occurrence risk of the cognitive impairment, DNA methylation sites influencing the cognitive impairment are positively searched in the elderly, and the DNA methylation score is constructed to evaluate the prediction efficacy on the cognitive impairment, so that early recognition of patients with the cognitive impairment is realized, and the cognitive impairment is prevented from suffering from the cognitive impairment. Potential possibilities are provided for early prevention and intervention of cognitive functions of patients and promotion of health of the patients.

The application discloses a kind of multi-modal omics feature fusion's cervical cancer risk prediction system, belong to biomedical engineering and artificial intelligence cross field.The system is composed of four core modules: multi-modal omics data preprocessing and coding module, ST-HGAT topological graph attention fusion module, based on optimal transmission's spatial microenvironment priori knowledge injection module and cross-modal meta-learning adaptive completion and risk prediction module.ST-HGAT module takes HPV integration breakpoint coordinate as the anchor point node of graph, takes DNA methylation site and gene expression node as other two kinds of nodes, constructs heterogeneous graph with physical distance attenuation edge and cis-regulation priori edge, realizes the multi-omics fusion of compliance with the specific biological causal logic of cervical cancer, and the application significantly improves the precision of cervical cancer prognosis risk stratification and clinical applicability.

The application provides a DNA methylation marker cg22131907, a kit and a device for detecting type 2 diabetes, and relates to the technical field of disease diagnosis.The DNA methylation marker provided by the application has high sensitivity and strong specificity, the marker can be detected by using a Taqman probe method, and the detection is convenient, safe and easy to mass screen.The kit provided by the application comprises primer probes for detecting the methylation level of the DNA methylation site cg22131907, the incidence risk of type 2 diabetes of a subject is predicted by detecting the methylation degree of the DNA methylation site cg22131907, and basis is provided for early prediction and diagnosis of type 2 diabetes.The device provided by the application has a simple structure and can accurately realize detection on the incidence risk of type 2 diabetes of a subject.

The invention discloses an application of a DNA methylation site marker in improvement of age prediction performance of a machine learning model, and provides a richer feature basis for learning of various methylation-age association modes by machine learning in combination with a newly discovered marker on the basis of known age-related methylation sites (ageCpGs). Therefore, the methylation prediction capability baseline of methods such as machine learning is improved, and the prediction accuracy can be effectively enhanced.

The application discloses a DNA methylation site recognition method based on images. The application comprises the following steps: firstly, current signal preprocessing is performed on an original Nanopore sequencing data set by using recognition windows of different sizes to obtain a preprocessed sequencing data set; then, data conversion is performed on the preprocessed sequencing data set by using a Gram angle field method to obtain a two-dimensional image data set; after a deep neural network model is trained, a DNA methylation site recognition model and corresponding recognition accuracy are obtained; then, the best recognition window and the DNA methylation site recognition model are determined according to the recognition accuracy, so that the Nanopore sequencing data to be recognized is recognized. The application converts one-dimensional current data into two-dimensional image data, and then recognizes and processes the image by means of the computer image recognition capability, so that whether methylation occurs or the methylation type is accurately recognized.