18 results about "Genome human" patented technology

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.

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.

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.

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.

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 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.

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 invention relates to the technical field of plasma free DNA methylation markers, and provides a plasma free DNA methylation marker and application thereof. The methylation marker is composed of 50 methylation regions on a human genome hg38, and the cancers comprise lung cancer, colorectal cancer, liver cancer, stomach cancer, breast cancer, esophageal cancer and pancreatic cancer. The universal DNA methylation biomarkers capable of being used for combined diagnosis of multiple cancer species are screened out, and the markers have high specificity and sensitivity to cancer samples of different clinical stages and are of great significance to early diagnosis of cancers.

The invention relates to the technical field of gynaecology and obstetrics, and discloses a model for predicting the PE risk of pregnancy in early and middle pregnancy, which comprises the following steps: collecting a sample from peripheral blood of a pregnant woman, and separating plasma; the method comprises the following steps: extracting free DNA from plasma by using a magnetic bead separation method, and performing purification and quantitative treatment; performing high-throughput sequencing on the extracted free DNA to obtain sequencing data; through bioinformatics analysis, sequencing data is compared to a human genome, and a gene sequence related to PE is identified; and on the basis of the identified biomarker, in combination with clinical data of the pregnant woman, constructing a model for predicting the PE risk. According to the method, the prediction model is constructed by combining the free DNA sequencing data and the clinical data, so that the accuracy and the stability of predicting the PE risk can be improved. And gene sequences and variations related to PE can be identified through bioinformatics analysis and genome data comparison, so that more reliable prediction information is provided.

The application discloses a single-cell mixed sample sequencing and sample splitting method based on HLA genes. The application first acquires HLA gene typing information of each sample to be mixed; secondly, single-cell mixed sample sequencing is performed on the mixed sample to obtain single-cell mixed sample sequencing results of the mixed sample; finally, based on the HLA gene typing information, the sample source of each cell is identified by calculating the expression characteristics of HLA genes in the single-cell mixed sample sequencing sequence, and sample splitting is completed. The application breaks through the technical obstacle that few-cell clinical samples cannot be subjected to single-cell sequencing, greatly improves the utilization rate of these precious samples, significantly reduces the calculation consumption of sample splitting through an efficient HLA gene sequence pseudo-alignment algorithm, improves the ability to obtain genetic information from low-coverage cells by focusing on the HLA region with the highest polymorphism in the human genome, and effectively reduces the sequencing cost of a single sample through mixed sample sequencing.

The invention provides a method for constructing simulated tumor standard sequencing data and application of the simulated tumor standard sequencing data. The method comprises the following steps: acquiring a first strain mutation site set from a first human genome standard; obtaining a second strain mutation site set from a second human genome standard; selecting a unique germline mutation site relative to the second germline mutation set in the first germline mutation set; obtaining sequencing data of the second human genome standard substance and the first human genome standard substance; and for a preset simulated somatic mutation site, replacing corresponding data in the sequencing data of the second human genome standard with the sequencing data of the first human genome standard according to a predetermined replacement ratio, and generating the sequencing data of the tumor standard containing simulated somatic mutation. Compared with a real tumor cell standard substance, the method has the advantages that the mutation number and frequency can be accurately controlled, positive and negative sites are defined, the cost is saved, and the research efficiency is improved; and meanwhile, a real sequencing result is reserved.

The application is a divisional application of application No. CN202011608940.0. The present application provides a tumor marker located on chromosome 10 and an application thereof, wherein the tumor marker is located on human genome chromosome 10 and comprises one or more CpG sites which can be subjected to methylation modification, and the tumor marker comprises a region located at chr10: 124902392-124902455 with human genome hg19 as a reference version. The present application provides a tumor marker related to DNA epigenetic modification, and the marker shows a significant hypermethylation state in tumor patients. The tumor marker can be used for clinical auxiliary screening, diagnosis and prognosis of tumors, or can be used for designing diagnostic reagents and kits.

Rapid, sensitive and cost-efficient detection and characterization method for in vitro double strand breaks produced by CRISPR-Cas9 nucleases from human genomic DNA samples.

The application discloses application of HHAT gene and TTLL7 gene in diagnosis and treatment of liver cancer, and relates to the technical field of biotechnology, and discloses new prospects of HHAT gene and TTLL7 gene in human genome for the first time, reveals that the occurrence and development of liver cancer are caused by changes in three-dimensional structure and changes in chromatin openness, and through targeting the gene, the gene can become a therapeutic target for diagnosis or treatment of liver cancer.

The invention provides a transcriptional activator-like effector nicking enzyme for editing a B2M gene locus and application thereof, the transcriptional activator-like effector nicking enzyme comprises a TALE protein, a target DNA recognition site of the TALE protein is located at the B2M gene locus, and the TALE protein comprises 18 repetitive modules; the B2M gene locus is a coordinate NC000015.10: 44711391-44721145 of a human genome of a human reference genome 38 edition (GRCh38 / hg38), and the B2M gene locus is a coordinate NC000015.10: 44711391-44721145 of The repeating module is selected from any one of NK, NI, HD and NG. The TALENickase gene editing tool suitable for double copy sites (B2M gene loci) is prepared by optimizing the length of a recognition module and combining amino acid mutation of a Fok I catalytic domain, and the optimized TALENickase has the highest site-specific integration efficiency and low toxicity.

The present invention relates to the medical field of single-gene disorders caused by functional loss or gain of an allele. The innovative approach developed being based on editing the human genome at the level of the Kozak sequence by means of CRISPR-Cas programmable nucleases. Particularly, the present invention relates to variant Kozak sequences and related in vitro or in vivo methods for obtaining such variant Kozak sequences for therapeutic applications in the treatment of single-gene diseases caused by monoallelic losses or gains. These in vitro and in vivo methods include CRISPR-Cas homology-directed repair, CRISPR-Cas prime editing, CRISPR-Cas base editing or genome editing with other programmable RNA-guided nucleases, and the introduction of specific nucleotide conversions in the Kozak sequence of genes causative of diseases. These nucleotide conversions enhance or inhibit the translation of the mRNA produced by the gene, compensating for the functional loss or gain of one allele in the diseases.