63 results about "Genome human" patented technology

Some aspects of this disclosure provide strategies, systems, reagents, methods, and kits that are useful for the targeted editing of nucleic acids, including editing a single site within the genome of a cell or subject, e.g., within the human genome. In some embodiments, fusion proteins of Cas9 and nucleic acid editing enzymes or enzyme domains, e.g., deaminase domains, are provided. In some embodiments, methods for targeted nucleic acid editing are provided. In some embodiments, reagents and kits for the generation of targeted nucleic acid editing proteins, e.g., fusion proteins of Cas9 and nucleic acid editing enzymes or domains, are provided.

Some aspects of this disclosure provide strategies, systems, reagents, methods, and kits that are useful for the targeted editing of nucleic acids, including editing a single site within the genome of a cell or subject, e.g., within the human genome. In some embodiments, fusion proteins of Cas9 and nucleic acid editing enzymes or enzyme domains, e.g., deaminase domains, are provided. In some embodiments, methods for targeted nucleic acid editing are provided. In some embodiments, reagents and kits for the generation of targeted nucleic acid editing proteins, e.g., fusion proteins of Cas9 and nucleic acid editing enzymes or domains, are provided.

A system is disclosed for discreetly assessing the compatibility of two or more human genomes across diverse elements, activities, and engagement platforms relevant to potential mating scenarios. The genomic data is subjected to encryption, with the option of employing homomorphic encryption to safeguard user privacy and security. Processing of the data is facilitated through a personal health database processing system, which may be cloud-based or edge-based. The application of homomorphic encryption ensures that the genomic information of individual users remains encrypted during processing, with the outcome limited to the display of progeny compatibility to the respective end users.

The invention discloses a haploid modeling method based on generic genome genetic information, relates to the technical field of genetic engineering, and aims to ensure existence of'essential genes' in human genomes as much as possible through a core sequence mechanism and a sliding window mechanism in order to solve the problem of low haploid modeling efficiency in the prior art. And the generic genome is divided into a plurality of core windows, so that a single window becomes parallel after being a relatively independent individual, modeling supporting high parallelization is realized, and the modeling efficiency is improved on the basis of ensuring real modeling.

Among other things, provided herein are systems that replace the natural random integration activity of a retrovirus with site-specific integration machinery. This approach allows for a more precise targeting of a gene of interest into a human genome, e.g., for therapeutic purposes. The system may include integration-deficient retrovirus (e.g., lentivirus) (IDLV), in which the natural integration activity has been reduced (e.g., by mutation to the viral integrase polypeptide). Instead, the system may comprise a site-specific recombinase (e.g., a serine recombinase, e.g., a serine integrase) capable of directing insertion of a template DNA, or portion thereof, into a desired site in the human genome.

Retron editors allow for the insertion of a segment of user-defined DNA in a host cell genome. To maximize the activity of retron editors, they were optimized by improved linkers, nuclear localization sequences, and RNA sequences. The resulting retron editor can programmably insert, delete, or change the genome of a host cell or organism, including human genomes.

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.

The invention discloses an SNP (Single Nucleotide Polymorphism) site related to the risk of liver injury caused by methotrexate and application of the SNP site. The SNP is located at 31, 356 and 966bp positions of a No.6 chromosome of a human GRCh38 genome, and the basic group of the SNP is C or G. According to the scheme, the SNP site related to the methotrexate liver injury is provided, the risk of the liver injury caused by methotrexate can be effectively predicted, and the SNP site serves as a marker for predicting the liver injury caused by methotrexate.

A genetic prime editing screening platform to identify functional variants related to human health and disease, is configured substantially to annotate genome with nucleotide resolution with actionable disease prediction and treatment for personalized medicine.

A gene-leader editing screening platform for identifying functional variations associated with human health and disease, substantially configured to annotate genomes with nucleotide resolutions, accompanied by operable disease prediction and treatment for personalized medical treatment.

Disclosed are methods of preparing a composition of non-naturally occurring DNA, comprising: (a) extracting DNA from a sample of a subject; (b) contacting the extracted DNA or its derivative with a panel of oligonucleotide probes designed to hybridize to a plurality of preselected genomic regions, thereby generating selected DNA, wherein at least 50% of the preselected genomic regions are CpG regions that each comprises at least 3 CpG sites and a CpG density of at least 0.02 CpG / bp, wherein the preselected genomic regions cover 10-500 Mb of sequence space in human genome, wherein the extracted DNA or its derivative or the selected DNA or its derivative is further treated with an agent or a combination of agents that discriminates between methylated and unmethylated cytosines; and (c) performing high-throughput sequencing on the selected DNA or its derivative and generating sequencing reads.

The present disclosure provides a genetic marker with good forensic application value in human genome, and particularly relates to a primer set, a detection kit, uses thereof, and a corresponding detection method.

The present invention belongs to the field of biotechnology, and relates to a composite amplification system and a kit of 23 short tandem repeat sequences, which are used to detect genetic marker genes with polymorphism in the human genome, and belongs to the field of biotechnology. The present invention relates to amplifying multiple short tandem repeat sequences simultaneously in a PCR system, and the specific loci are 22 short tandem repeat sequences with high genetic polymorphism and 1 sex determination site, and primers are designed and labeled with fluorescent groups respectively. The system has extremely high individual recognition rate and non-paternal exclusion rate, large amount of information, and good compatibility. The present invention can be used for forensic individual identification, paternity testing, and population genetics analysis, with higher accuracy and good sensitivity.

A method for detecting fetal CNVs through non-invasive prenatal testing, comprising steps: (a) collecting blood samples from pregnant women; (b) extracting cfDNA fragments from the blood samples, performing whole genome sequencing on extracted cfDNA fragments to obtain cfDNA sequencing data, and preprocessing cfDNA sequencing data by removing adapters, aligning and mapping reads to a referenced human genome; (c) performing quality control on obtained cfDNA sequencing data for being accepted for the prediction; (d) dividing referenced genome into a plurality of non-overlapping bins and filtering the bins based on a predetermined GC-content threshold for bins; (e) defining a CNV detection window, a bin size, a set of features for machine learning / deep learning models and fine-tune model for detecting fetal CNV for selecting a final model; and (f) applying the final model to predict fetal CNVs, including microdeletion syndromes, or microduplications, or aneuploidies, or the number of sex chromosomes.

A genomic data analyzer may be configured to detect and characterize, with a variant calling module, genomic variants from next generation sequencing reads out of a pool of enriched genomic patient samples without suffering from next generation sequencing workflow biases such as those introduced by sequencing errors in particular in repeat patterns regions of the human genome such as homopolymers or heteropolymers. The variant calling module may estimate the probability distribution of the length of the repeat pattern for each patient sample and cross-analyze it against other samples in a single experimental pool to identify best-fit variant models for each pair of samples. The variant calling module may further group samples according to their matching best-fit variant models and identify which group of patient samples carries the wild type reference without the need for control data in the pool. The variant calling module may subsequently characterize the homozygous or heterozygous repeat patterns variants for each patient sample with improved specificity and accuracy even in the presence of next generation sequencing biases.

The invention relates to the technical field of single-cell multi-omics sequencing, and discloses a method for analyzing CIN epigenetic characteristics of tumor cells, which comprises the following steps: preparing a single-cell RNA library and a DNA library, and sequencing; the method comprises the following steps: respectively preprocessing DNA and RNA sequencing data, comparing to obtain a human genome reference sequence, identifying a differential methylation region, carrying out cell karyotype analysis, dividing tumor cells into different subgroups, and quantifying a gene expression level; and analyzing the correlation among DNA methylation difference, gene expression difference and karyotype heterogeneity among different subgroups. According to the method, DNA methylation, gene expression and karyotype of a single cell can be measured at the same time, the correlation among DNA methylation, gene expression and karyotype heterogeneity of tumor cells is analyzed on the basis, and the mechanism of tumor generation and evolution can be understood more deeply.

1. The name of the product of this design: Graphical user interface of human genome sequencing interactive analysis system for electronic devices. 2. Purpose of the product of this design: an electronic device. 3. The key design point of this design product lies in the content displayed in the graphical user interface. 4. The picture or photo that best illustrates the design points: Interface change state diagram 5. 5. The design for which protection is sought includes color. 6. Since the hardware part of the electronic device is of conventional design, the rear view, left view, right view, top view and bottom view are omitted. 7. Purpose of the graphical user interface: used to display the graphical user interface of the human genome sequencing interactive analysis system. 8. Human-computer interaction mode of the graphical user interface: the main view is the login interface of the graphical user interface; interface change state diagram 1 is the interface displayed after clicking the "Sample Report" interactive button in the upper right corner of the main view; interface change state diagram 2 is the interface displayed after clicking a "Project Card" in interface change state diagram 1; interface change state diagram 3 is the interface displayed after clicking the "Enter Report" interactive button in the upper right corner of interface change state diagram 2; interface change state diagram 4 is the interface displayed after clicking "Interactive Analysis" in the left column of interface change state diagram 3; interface change state diagram 5 is the interface displayed after clicking and selecting the label in the "Sample" column in the left parameter area in interface change state diagram 4, in which the selected "Sample" label changes from black to blue.

The invention relates to the technical field of biological medicine, in particular to a molecular marker of alveolar rhabdomyosarcoma and application of the molecular marker, the molecular marker is a circPAX3R-loop site, and a DNA-RNA hybridization region of the molecular marker is located on chr2: 2230 94913-2230 95853 of a human genome. According to the application disclosed by the invention, a large number of R-loop structures exist in an alveolar rhabdomyosarcoma cell through DRIP-seq, a plurality of circRNAs exist in a cell nucleus of the alveolar rhabdomyosarcoma through circRNA sequencing, the existence of circPAX3R-loop is proved through qPCR after a DRIP product is subjected to RNase R and RNase H treatment, and the result shows that circPAX3R-loop exists in the cell nucleus of the alveolar rhabdomyosarcoma in the cell nucleus of the alveolar rhabdomyosarcoma in the cell nucleus of the alveolar rhabdomyosarcoma. The important clinical application value is realized on developing a reagent or a kit for diagnosing the alveolar rhabdomyosarcoma, a medicine for preventing and / or treating the alveolar rhabdomyosarcoma or a gene treatment strategy aiming at the target spot.

The invention provides a screening method and application of a human low-recombination-rate region micro-haplotype genetic marker. The screening method comprises the following steps: dividing a human genome into a low-recombination-rate region and a high-recombination-rate region; identifying a haplotype which is less than 200bp in length and contains 2-5 SNPs from a low recombination rate region, and taking the haplotype as a micro haplotype; calculating forensic medicine parameters of each micro haplotype; the forensic parameters comprise individual identification capability, non-father exclusion rate and effective allele number; screening out micro haplotypes with forensic parameters within a preset range; and evaluating the paternity identification efficiency of the screened micro-haplotypes by using the contribution degree of the product, and sequencing. According to the invention, the genetic marker is screened from a low recombination region, so that the interference of exchange recombination between homologous chromosomes in a cell meiosis (passage) process on a paternity identification result can be effectively avoided; meanwhile, the paternity identification efficiency of the genetic marker is evaluated through the product contribution degree, the individual identification ability and the paternity exclusion rate can be comprehensively considered, and a favorable basis is provided for selection of the genetic marker.

The invention provides a urine simulation sample for urothelial carcinoma, a reference substance and a preparation method and application of the urine simulation sample and the reference substance. A preparation method of a urine simulation sample for urinary tract epithelium cancer comprises the following steps: S1, preparing a urinary tract epithelium cancer cell culture: digesting T24 cells with 0.15%-0.35% v / v trypsin, and culturing to obtain a T24 cell suspension; s2, preparing free DNA of urothelial carcinoma: breaking a human genome DNA standard product NA12878 with a methylation level of 100% into free DNA with a length of 150 bp to 300 bp; s3, mixing the urinary tract epithelium cancer cell culture in the step S1, the free DNA of the urinary tract epithelium cancer in the step S2 and a urine sample of a healthy person to obtain the urine simulation sample of the urinary tract epithelium cancer. The invention provides a urine simulation sample and reference which are clear in background, capable of simulating clinical samples, low in cost, renewable and universal.

This invention relates to the field of biomedical technology and discloses a broad-spectrum antimicrobial peptide and its applications. The invention obtains a broad-spectrum antimicrobial peptide H by mining non-classical open reading frames (ncORFs) in the human genome. Experimental verification shows that the broad-spectrum antimicrobial peptide H has significant inhibitory effects on both Gram-positive bacteria (Staphylococcus aureus ATCC 29213) and Gram-negative bacteria (Escherichia coli K88). Furthermore, the broad-spectrum antimicrobial peptide H can form an α-helix. The α-helix structure projection diagram shows that one side is rich in positively charged hydrophilic amino acid residues, and the other side is rich in hydrophobic amino acid residues, exhibiting good amphiphilicity. In addition, the broad-spectrum antimicrobial peptide H provided by this invention has low hemolytic activity and no cytotoxicity, ensuring in vivo safety while achieving highly efficient bactericidal activity. It also features a short synthetic sequence, small molecular weight, and is easy to chemically synthesize.

The present application relates to the technical field of biological medicine, and in particular to a molecular marker of alveolar rhabdomyosarcoma and application thereof, wherein the molecular marker is circFOXO1R-loop site, and a DNA-RNA hybridization region thereof is located at chr13:41133915-41134263 of a human genome. In the present application, the circFOXO1R-loop site is verified by CUT&Tag-qPCR and DRIP-qPCR, and it is found that the circFOXO1R-loop can promote the combination of FOXO1 gene and RNAPol II and DNA damage, and it has important clinical application value for developing a reagent or kit for diagnosing alveolar rhabdomyosarcoma, a drug or a gene therapy strategy for preventing and / or treating alveolar rhabdomyosarcoma aiming at the target.

The present invention discloses the application of a dual liver cancer molecular marker in the preparation of liver cancer detection reagent products, belonging to the technical field of detection kits. The dual liver cancer molecular marker is a composition of DNA methylation dual liver cancer molecular markers screened by the inventor from human genome regions covering more than 10 times the 450K chip range through two rounds of targeted methylation sequencing and suitable for early liver cancer detection. In the sample dataset used in the present invention, the detected performance of the screened markers and composition is optimal, which can further improve the detection accuracy on the basis of a single methylation marker and avoid the problems of false detection and missed detection. Compared with the commonly used liver cancer screening methods, the dual liver cancer molecular marker has significantly improved stability, sensitivity and accuracy, and can be used for the detection of in vitro blood samples, which is very beneficial to the popularization and promotion of early screening and early diagnosis of liver cancer.

The invention provides methods for ultra-deep whole-genome sequencing of human DNA. The methods determine the methylation status of millions of sites in the human genome, wherein said methods use few (if any) DNA amplification cycles.

The invention relates to the technical field of biology, and discloses a 2019-nCov case classification and clinical result prediction method based on machine learning, which comprises the following steps: S1, obtaining 194 parts of RNA-seq data of PBMCs (peripheral blood mononuclear cells) of 2019-nCov restorers, acute patients and healthy persons, cleaning RNA-seq original data by using Fastp, and then mapping the RNA-seq original data to human genomes (GRCh38) by using HISAT38; and S2, a FeatureCounts tool of a Subread packet is used for calculating the reading frequency of alignment with the gene, and the reading frequency of alignment with the gene is calculated by using the FeatureCounts tool of the Subread packet. According to the invention, immune repertoire characteristics and RNA-seq are innovatively combined, a group of biomarkers are screened by using a machine learning method, and the markers can be used for predicting 2019-nCov infected people and distinguishing acute-stage patients, recovery-stage patients and unexposed healthy people. The method has high accuracy, in the model, the AUC values of the acute stage, the restorer and the healthy people all reach 0.99, and the 2019-nCov infected people can be accurately distinguished.

The invention belongs to the technical field of bioinformatics, and discloses a common value evaluation method and device for tumor neoantigens, equipment and a storage medium, missense mutation analysis is performed by acquiring mutation data of a pan cancer sample, a plurality of missense mutation sites are obtained and compared with a human genome to obtain candidate mutation sites, and the candidate mutation sites are used for evaluating the common value of the tumor neoantigens. Extracting the newborn peptide fragment corresponding to each candidate mutation site, inputting the newborn peptide fragment into the prediction model, predicting the binding score of the newborn peptide fragment and the human leukocyte antigen, and calculating the common value score of each newborn peptide fragment according to the number of the newborn peptide fragments generated at the candidate mutation sites and the corresponding binding score of the newborn peptide fragment and the human leukocyte antigen; according to the method, the new peptide fragments are sorted according to the descending order of the scores, and the new antigen sequence is screened out from the sorting result, so that the new antigen value can be effectively evaluated based on the number of the new peptide fragments generated by the site and the binding scores of the corresponding new peptide fragments and the human leukocyte antigen, and the new antigen with higher adaptability is screened out.

The present invention relates to the medical field of monogenic diseases caused by loss or acquisition of allele function. The innovative method is developed on the basis of editing the human genome at the Kozak sequence level by means of CRISPR-Cas programmable nuclease. In particular, the present invention relates to variant Kozak sequences and related in vitro or in vivo methods of obtaining the variant Kozak sequences for the treatment of monogenic diseases caused by loss or acquisition of monoalleles. These in vitro and in vivo methods include CRISPR-Cas homologous mediated repair, CRISPR-Cas pilot editing, CRISPR-Cas base editing or genome editing with the use of other programmable RNA-directed nuclease, and the introduction of specific nucleotide transformations in the Kozak sequence of the disease virulence gene. These nucleotide transformations enhance or inhibit the translation of the gene produced mRNA, compensating for the loss of function or acquisition of an allele in the disease.

A computer implementable system manages genetic information associated with a human genome of a target subject and displayed via a graphical user interface (GUI). The target subject genetic information is encrypted. The system compares the clinical data of the target subject with clinical data in its database to provide a first ranking of possible genetic diseases. Then the genetic information of the target subject is compared to the genetic information in the database to re-rank via a weight score evaluation based on predetermined criteria thereby providing a second ranking of possible genetic diseases. Allowing a user to decrypt a portion or portions of the encrypted target subject genome that are related to the possible genetic diseases and blocking decryption of the rest of the genome. Providing access to the decrypted portions of the target subject genome via the GUI.

A genetic prime editing screening platform to identify functional variants related to human health and disease, is configured substantially to annotate genome with nucleotide resolution with actionable disease prediction and treatment for personalized medicine.

The present invention relates to engineered Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) systems and corresponding guide RNAs that target specific nucleotide sequences at certain gene loci in the human genome. Also provided are methods of targeting, editing, and / or modifying of the human genes using the engineered CRISPR systems, and compositions and cells comprising the engineered CRISPR systems.