328 results about "DNA methylation" patented technology

The invention provides an individualized management system and method for colorectal cancer risk prediction, and relates to the technical field of medical diagnosis and individualized medical treatment. The system comprises a multi-omics data processing module used for collecting a blood sample of a subject, extracting circulating free DNA, and sequencing cfDNA by adopting a simplified methylation sequencing technology to obtain final original data of DNA methylation characteristics; the risk prediction module is used for carrying out bioinformatics analysis on the original data of the final DNA methylation features by adopting a machine learning algorithm, extracting a methylation feature set, a tail end motif feature set and a breakpoint motif feature set, and carrying out risk prediction on the basis of the extracted feature sets; and predicting the colorectal cancer disease risk of the subject by using a pre-trained prediction model to obtain a prediction result. The problem that the risk prediction accuracy of the colorectal cancer is low is solved.

The application provides a novel DNA methylation marker TAGMe-3 for tumor identification and use thereof. The TAGMe-3 gene sequence region has significant methylation difference between cancer tissues and paracancer tissues. As long as abnormal high methylation state of the TAGMe-3 gene sequence region is detected, the subject is determined to belong to a tumor high-risk population. Moreover, the significant difference of the TAGMe-3 presented between tumor tissues and non-tumor tissues exists in different types of tumors (Pan-cancer) in a wide range.

The invention relates to the technical field of cancer risk prediction, in particular to a deep learning cancer risk prediction method and system based on a methylation sequence. The method comprises the following steps: acquiring DNA methylation sequencing data and reference genome annotation data in a blood sample of a cancer patient; performing functional region classification processing on the DNA methylation sequencing data according to the reference genome annotation data to obtain promoter subregion methylation data, enhancement subregion methylation data and transcription factor binding site methylation data; performing dynamic sequence similarity calculation processing on the methylation data of the promoter region to obtain a first feature vector containing importance weight of the promoter region of the cancer-related gene; the methylation sites are classified according to the functions of the methylation sites in the transcriptional regulation pathway, so that the biological interpretation of the characteristics is improved, and the synergistic effect among different functional regions can be captured.

The invention belongs to the technical field of biological diagnosis, and particularly relates to application of a reagent for detecting DNA methylation of an RPL10 promoter region in preparation of a sow pregnancy diagnosis product. Through methylation high-throughput sequencing of blood DNA of pregnant sows and non-pregnant sows, it is found that the methylation level of a gene promoter region of the ribosomal protein L10 in the early pregnancy stage of the sows is remarkably reduced. The methylation level of the pregnant sow RPL10 is analyzed by using MSP, BSP and qMSP methods, and meanwhile, the ROC curve analysis result also shows that the RPL10 has diagnostic value. The results show that the method for detecting the RPL10 gene in the pig blood sample can be an effective method for diagnosing the early pregnancy of pigs. According to the invention, a pregnancy diagnosis technology based on RPL10 promoter region DNA methylation is preliminarily established, pig pregnancy detection methods are enriched, and a reference is provided for further exploring the DNA methylation level and the regulation mechanism of the pig pregnancy early stage.

The invention relates to the technical field of tumor data processing, in particular to a methylation-based tumor data processing system. The system comprises the following modules: a methylated sample sequencing module, a sequencing difference site recognition module, a tumor gene sequence analysis module and a tumor subtype classification module, performing high-throughput sequencing on the to-be-detected clinical tumor DNA sample to obtain methylated tumor sequencing data; performing methylation level quantification on the methylated tumor sequencing data, and performing tumor difference site analysis to generate tumor difference site data; performing tumor generation key gene sequence identification according to the tumor difference site data to generate tumor methylation characteristic data; and performing tumor subtype tag identification according to the tumor methylation characteristic data to generate tumor type tag data. According to the method, accurate tumor typing is realized on the basis of tumor DNA methylation characteristic analysis, and the false negative rate of low-concentration sample detection is effectively reduced.

The present invention discloses a cell-labeling microbead, a preparation method and an application thereof, relating to the field of biological detection. The cell-labeling microbead includes a microbead, a universal primer sequence, a cell label and a linking sequence that are sequentially coupled to the microbead; wherein, the universal primer sequence is used to bind to a primer compatible with a sequencer, and dC in the universal primer sequence is 5-Methyl dC; the cell label is used to trace and identify target cells, and the bases in the cell label include A base, T base, G base; the linking sequence is used to link the cell label to the target cells. The technical solution of the present invention avoids base conversion by removing unmethylated C bases in the universal primer sequence and the cell label sequence, and realizes the construction of a high-throughput single-cell DNA methylation library; by labeling multiple sequences on the microbead, the number of primer syntheses and costs are significantly reduced, which helps to promote the development and application of high-throughput sequencing technology for single-cell DNA methylomes.

The present disclosure includes, among other things, methods, kits, and systems for determining the status of lung cancer. In various embodiments, the present disclosure relates to the use of one or more histone modifications, chromatin accessibility, binding of one or more transcription factors, and / or DNA methylation that that are characteristic of the status of lung cancer. In some embodiments, differential modifications and / or differential accessibility are detected and quantified at one or more genomic loci of a biological sample, e.g., in cell-free DNA (cfDNA) from a liquid biopsy sample obtained or derived from a subject with lung cancer. In various embodiments a determined status is useful, e.g., in selecting treatment for and / or treating a lung cancer.

The present disclosure includes, among other things, methods, kits, and systems for determining HER2 status of cancer, e.g., a breast, gastric / gastroesophageal, colorectal, or lung cancer. In various embodiments, the present disclosure relates to the use of one or more histone modifications, chromatin accessibility, binding of one or more transcription factors, and / or DNA methylation that that are characteristic of HER2 status of cancer. In some embodiments, differential modifications and / or differential accessibility are detected and quantified at one or more genomic loci of a biological sample, e.g., in cell-free DNA (cfDNA) from a liquid biopsy sample obtained or derived from a subject with cancer. In various embodiments a determined HER2 status is useful, e.g., in selecting treatment for and / or treating a cancer, e.g., a breast, gastric / gastroesophageal, colorectal, or lung cancer.

The present disclosure includes, among other things, methods, kits, and systems for determining ER status of cancer, e.g., a breast cancer. In various embodiments, the present disclosure relates to the use of one or more histone modifications, chromatin accessibility, binding of one or more transcription factors, and / or DNA methylation that that are characteristic of ER status of cancer. In some embodiments, differential modifications and / or differential accessibility are detected and quantified at one or more genomic loci of a biological sample, e.g., in cell-free DNA (cfDNA) from a liquid biopsy sample obtained or derived from a subject with cancer. In various embodiments a determined ER status is useful, e.g., in selecting treatment for and / or treating a cancer, e.g., a breast cancer.

System, methods, and non-transitory computer readable medium (CRM) are provided that are directed to a biological age model utilizing metabolomic and proteomic data. Additional clinical variables and DNA methylation data may also be delivered to the methods, systems, and CRM. The biological age model determines a morbidity parameter based on a comparison between a patient's determined biological age and their chronological age to determine a time until death and possible treatment strategies.

The present invention discloses an in vitro method for obtaining DNA methylation biomarkers as exquisite DNA methylation positions in the human genome (i.e., CGIDs) that predict cervical cancer especially at as yet inaccessible early stages by examining progression of “categorical” DNA methylation alterations in three stages of premalignant lesions (cervical intraepithelial neoplasia (CIN)), progressing from CIN1 to CIN3. The present invention discloses combinations of CGIDs for detecting with high specificity and sensitivity cervical cancer by measuring their DNA methylation status and deriving a “methylation score”, which is useful as a biomarker for cervical cancer. Also disclosed are kits for predicting cervical cancer using such CGIDs using multiplexed next generation sequencing methylation assays, pyrosequencing assays and methylation specific PCR. The DNA methylation markers (CGIDs) described in the present invention are useful for cervical screening and early detection of cervical cancer by any person skilled in the art to detect cervical cancer.

Disclosed herein are methods, compositions, and devices for use in diagnosis and treatment of cancer. The methods include sequencing a panel of regions in cell-free nucleic acid molecules and detecting one or more biomarkers that are indicative of a cancer and capability for cancer subtyping.

The invention discloses a method for simultaneously determining gene point mutation and DNA methylation based on a CRISPR / Cas12a system. The method is characterized by comprising four steps of enzyme digestion, recognition, conversion and detection, wherein in the enzyme digestion step, methylation-sensitive restriction endonuclease (MSRE) is selected according to a target site sequence, unmethylated DNA is not hydrolyzed by MSRE and is kept complete, methylated DNA is hydrolyzed and broken under the action of MSRE, and the broken 3'end can be used as a primer P1 to trigger SDA1 amplification; wherein in the recognition step, a Flap primer and an Invading primer are designed according to a point mutation sequence, and an enzyme digestion product generated under the action of FEN1 enzyme can be used as a primer P2 to trigger SDA2 amplification; wherein in the conversion step, two different SDA amplification templates are designed according to sequences of P1 and P2, and amplification of SDA1 and SDA2 is triggered by enzyme digestion products P1 and P2 respectively, so that DNA methylation and gene mutation information are quickly converted into two different amplification products T1 and T2; wherein in the detection step, crRNA1 and crRNA2 are respectively designed as guide chains of a CRISPR / Cas12a reaction system according to sequences of T1 and T2, and synchronous detection of gene point mutation and DNA methylation is realized through'strong 'and'weak' of fluorescence signals. Based on a CRISPR / Cas12a system, the method solves the problem that a traditional detection method cannot realize simultaneous detection of gene point mutation and DNA methylation, can be used for scientific research analysis and clinical detection, and has a wide market prospect.

The invention belongs to the technical field of biology, and provides a medium-flux single cell four recombinant library construction and sequencing technology mtCOOL-seq (mid-throughput single cell multi-gene sequencing), and the four recombinant library construction and sequencing technology comprises a transcriptome, a DNA (deoxyribonucleic acid) methylation group, copy number variation and chromatin openness. The combination of the omics can comprehensively reveal a gene expression regulation mechanism and a functional state of a single cell. The mtCOOL-seq technology overcomes the defects of scRRBS, iscCOOL-seq and the like in the prior art, integrates the advantages of the scRRBS, the iscCOOL-seq and the like, and provides a more powerful and practical tool for single-cell multi-omics research.

The present invention relates to the field of gene detection, and particularly to a primer-probe combination, a kit and their applications for detecting the benign and malignant nature of pulmonary nodules. The primer-probe combination includes primer pairs and probes for detecting gene mutation sites and methylation sites, and can achieve simultaneous detection covering the EGFR L858R mutation site, the EGFR 19Del mutation site, and the methylation sites of the HOXA7, CCNA1, and ZNF808 genes at one time. Thus, the present invention is a simple, rapid and accurate combined detection scheme for DNA methylation and gene mutation to assist in differentiating the benign and malignant nature of pulmonary nodules; at the same time, the primer-probe combination can achieve rapid pre-cancer screening, and also has application values such as accurate medication guidance and prognosis and metastasis risk prediction.

The invention discloses a cancer profiling classification and prognosis prediction method based on generic cancer multi-omics data, and relates to a cancer profiling classification and prognosis prediction method. The invention aims to solve the problems of cancer subtype classification and prognosis prediction in generic cancer multi-omics. The method comprises the following steps: step 1, acquiring a multi-omics generic cancer data set, wherein the multi-omics generic cancer data set comprises a data set consisting of mRNA (messenger ribonucleic acid), DNA (deoxyribonucleic acid) methylation, miRNA (micro Ribonucleic Acid) and clinical prognosis data; 2, preprocessing the multi-omics cancer data set in the step 1; step 3, constructing a deep neural network model; 4, training the deep neural network model constructed in the step 3 based on the multi-omics generic cancer data set preprocessed in the step 2; and 5, carrying out cancer subtype classification and prognosis prediction on to-be-detected data based on the deep neural network model trained in the step 4. The invention belongs to the technical field of bioinformatics.

The invention discloses an application of leukocyte DNA methylation markers in colorectal tumor risk prediction, a series of leukocyte DNA methylation biomarkers related to colorectal tumors are researched, screened and verified, finally five methylation areas are obtained, a novel risk prediction model is constructed based on the five methylation areas, and the leukocyte DNA methylation markers have high clinical transformation potential and can be used for predicting the risk of colorectal tumors. And a novel risk stratification tool is provided for prevention and early screening of colorectal cancer.

The invention relates to sgRNAs for demethylation editing of an fgf2 gene of oryzias melastigma, an editing system and application, and belongs to the technical field of gene editing, and the sgRNAs are sgRNA1 + sgRNA2 + sgRNA3 or sgRNA2 + sgRNA3 + sgRNA4 + sgRNA5; the system comprises a Fuw-UbC-dCas9-tet1 plasmid and a pGL3-U6-sgRNAs plasmid, and the sequence of a conserved structural domain of a tet1 gene is as shown in SEQ ID NO. 1 (sequence identifier number 1). Through co-transfection of Mix1 or Mix2, the DNA methylation level of the fgf2 gene promoter can be effectively reduced by about 20.41% at most, the off-target efficiency is extremely low, the cell growth speed is remarkably increased, and stable inheritance is achieved.

The invention belongs to the technical field of gene detection, and particularly relates to a DNA methylation label-free fluorescence detection method, a reagent composition and application. The method comprises the following steps: cracking target DNA (Deoxyribose Nucleic Acid) by adopting GLaI endonuclease, and carrying out GLaI endonuclease reaction to obtain a digestion product; carrying out a double-cascade chain displacement amplification reaction on the obtained digestion product to obtain a double-cascade chain displacement amplification reaction product; carrying out CRISPR / Cas12a reaction on the obtained double-cascade chain displacement amplification reaction product, so as to obtain a CRISPR / Cas12a reaction product; in the CRISPR / Cas12a reaction, a G triplex is used as a signal source; and adding a fluorescent reaction reagent into the CRISPR / Cas12a reaction product, and measuring the fluorescence intensity of the CRISPR / Cas12a reaction product to obtain a methylation detection result of the target DNA. The detection method has the characteristics of low cost, universality, high sensitivity, high accuracy, good selectivity and the like.

The invention discloses a reagent combination for protecting fragment integrity in DNA methylation detection, the reagent combination is used for protecting fragment integrity in DNA methylation detection sample transformation, and the reagent combination comprises tetrahydrofurfuryl alcohol, L-ascorbyl palmitate and ethylenediamine tetraacetic acid; wherein the volume concentration of the tetrahydrofurfuryl alcohol is 10%-80%; the molar concentration of the L-ascorbyl palmitate is 10 mM to 100 mM; the molar concentration of the ethylenediamine tetraacetic acid is 1 mM to 10 mM. The invention also provides a kit and a method for DNA conversion by using the kit. According to the reagent combination, damage of sulfite to DNA in the transformation process can be reduced, DNA degradation is prevented, a transformed fragment is longer than that of a traditional transformation method, the DNA recovery concentration and the library concentration are higher, follow-up detection is facilitated, and the sensitivity of a follow-up detection method is improved.

The present invention discloses a nucleic acid composition, a kit and a detection method for detecting methylation of liver cancer-related genes. The nucleic acid composition is a first nucleic acid composition, a second nucleic acid composition or a combination of the first nucleic acid composition and the second nucleic acid composition. The first nucleic acid composition comprises: a methylation-specific primer and a probe for a target site of the EMX1 gene, a methylation-specific primer and a probe for a target site of the OTX2 gene, and a methylation-specific primer and probe for a target site of the DAB2IP gene. The second nucleic acid composition comprises: a methylation-specific primer and a probe for a target site of the Septin9 gene, a methylation-specific primer and a probe for a target site of the CDKL2 gene, and a methylation-specific primer and probe for a target site of the GSTP1 gene. The kit configured with the nucleic acid composition discovered in the present invention determines whether a test sample has become cancerous based on the degree of DNA methylation of the test sample, thereby providing a clinically simple and accurate liver cancer screening method, which has a very positive significance for the detection of liver cancer.

The utility model relates to a DNA (deoxyribonucleic acid) extraction and DNA methylation conversion and purification device adopting a paramagnetic particle method. Comprising a machine body, an extraction box body which is fixedly arranged on the machine body and is internally provided with at least one extraction bin group, a conversion box body which is fixedly arranged on the machine body and is internally provided with at least one conversion bin group, a magnetic attraction assembly which adsorbs DNA through magnetic beads, and a driving assembly which is fixedly arranged on the machine body and is connected with the magnetic attraction assembly, the plurality of temperature assemblies are connected with the extraction box body and the conversion box body in a one-to-one correspondence manner, and the extraction bin group comprises a cracking bin chamber, a washing bin chamber, a magnetic bead bin chamber and an elution bin chamber which are sequentially arranged in the extraction box body; the transformation bin group comprises a transformation bin chamber, a desulfurization bin chamber, a washing bin chamber, a magnetic bead bin chamber and an elution bin chamber which are sequentially arranged in the transformation box body, the integrated operation of DNA extraction, DNA methylation transformation and purification can be automatically completed, purified DNA can be conveniently obtained, and instability and pollution in the manual operation process are reduced.

The invention provides an application technology for screening lung cancer high-risk groups, early auxiliary diagnosis and postoperative treatment effect monitoring of lung cancer patients through model and computing power, and belongs to the fields of molecular biotechnology, medical diagnosis and treatment and massive health. The method comprises the following steps: collecting samples of human body liquid, exosomes and the like, detecting the DNA methylation level, miRNA expression quantity, protein level and the quantity of molecular markers such as autoantibodies, exosomes, kits and the like related to the lung cancer by virtue of a modern detection technology, and obtaining individual precision medical treatment and clinical application by virtue of a model and computing power (including a software algorithm, a DeepSeek large model, intelligent agent application and an artificial intelligence method). The problems of lung cancer high-risk group screening, early auxiliary diagnosis, pathological typing, clinical staging, metastatic state, postoperative curative effect evaluation and poor accuracy of national approved kits are solved. The non-destructive detection technology can prevent and treat lung cancer in time, is precise in medical treatment and good in health prevention, and has wide social benefits and popularization and use values. The traditional Chinese medicine composition also has a popularization effect on other non-lung cancers.

This DNA methylation promoter contains a compound represented by formula (I), a racemate thereof, or a salt thereof. [In formula (I), X represents a carbon atom or an oxygen atom, R1 represents a saturated aliphatic hydrocarbon group optionally including a ring structure, R2 represents a saturated or unsaturated aliphatic hydrocarbon group that has 10-30 carbon atoms and that optionally has a substituent group which is an alkyl group having 1-4 carbon atoms or an alkoxy group having 1-4 carbon atoms, a carbon atom of a glycerol skeleton optionally has a substituent group, * represents an oxygen atom bound to R3, and R3 represents an AA optionally having a substituent group.]

Methods and systems are provided for determining sarcomatoid differentiation of renal cell carcinoma (RCC). In various embodiments, the present disclosure relates to the use of one or more histone modifications, DNA methylation, and / or expression of one or more transcription factors that are characteristic of RCC with sarcomatoid features (sRCC). In some embodiments, differential modifications are detected and quantified at one or more genomic loci. In various embodiments, a determination of sarcomatoid subtype is useful, e.g., for identifying, selecting treatment for, and / or treating a subject having sRCC.

This invention discloses a method for constructing a gene methylation diagnostic model for differentiated thyroid cancer (PTC). The method includes the following steps: S1, obtaining a test sample; S2, extracting and storing DNA from the test sample; S3, performing methylation analysis; S4, establishing a diagnostic model based on DNA methylation, where the model shows that patients with cg03596178, cg06033721, cg06688989, cg07209244, cg07485775, cg14484681, cg19979108, and cg20943461 are more likely to experience disease progression and are considered risk factors; S5, cross-validating and evaluating the performance to obtain the gene methylation diagnostic model. This model, by detecting and statistically analyzing specific methylation sites, can differentiate patients with recurrent or metastatic characteristics in differentiated thyroid cancer. The relevant model can assist in the clinical diagnosis and follow-up of thyroid patients.

The invention discloses the use of tributyrin as an additive for embryo in vitro development culture medium, and belongs to the technical field of animal reproductive biology. The invention applies tributyrin as an additive to mouse embryo in vitro development culture medium for the first time, and the tributyrin can significantly improve the blastocyst rate, reduce the ROS content in the embryo, improve the mitochondrial membrane potential in the embryo, improve the ATP level in the embryo and the expression of antioxidant genes, improve the DNA methylation and histone modification level in the embryo, and promote the embryo in vitro development; and tributyrin, as a natural antioxidant and epidrug, is safe and has no toxic side effects, is cheap and easy to obtain, does not need to replace the culture medium during the entire development and culture process, and is simple to operate; the tributyrin provides strong support for in vitro embryo engineering technologies such as the efficient development of embryos in human assisted reproductive technology, mammalian fertilized embryos, parthenogenetic embryos and somatic cell cloned embryos, and has good application prospects.

The invention discloses a gene marker for diagnosing latent tuberculosis infection and application of the gene marker, and belongs to the technical field of biological medicine. According to the present invention, the latent tuberculosis infection early diagnosis marker is screened based on the peripheral blood whole genome DNA methylation map, the new target is provided for the diagnosis of latent tuberculosis infection, the diagnosis efficiency of the marker is evaluated through pyrosequencing, the corresponding detection kit and the use method are developed, and the rapid and accurate diagnosis of latent tuberculosis infection is achieved.

The present disclosure generally relates to methods and compositions for interrogating and / or analyzing DNA methylation in a biological sample. In some aspects, the present disclosure relates to methods for determining the methylation status of a region of interest of genomic DNA. In some aspects, the methylation status is analyzed by interrogating converted DNA in which the sequence of the converted DNA is indicative of the methylation state of the DNA. In some aspects, the methods comprise generating a collective signal that is based on the methylation states of a plurality of sequences or residues in the DNA, and that is representative of the methylation status of the region of interest as a whole.

The present invention discloses a method for screening non-small cell lung cancer markers based on enhancer methylation differences, as well as the markers and applications thereof. Abnormal DNA methylation in the enhancer regions of the human genome can lead to abnormal gene expression regulation in non-small cell lung cancer. The method for screening non-small cell lung cancer markers described in the present invention is based on this principle and further combines paired-end tag sequencing analysis of chromatin interaction technology (ChIA-PET) to screen out DNA methylation markers in the genomic enhancer regions that cause abnormal gene expression regulation in non-small cell lung cancer. This screening method has the advantages of accuracy, rapidity, and high throughput. The DNA methylation markers described in the present invention are cg00787780, cg16434331, cg21862081, and cg24327132. The markers have good diagnostic efficacy for non-small cell lung cancer, showing high accuracy, high sensitivity, and strong specificity, and can better help improve the detection rate of non-small cell lung cancer.