22 results about "Rare mutations" patented technology

The invention provides a recombinant oncolytic virus for treating solid tumors with rare and rare gene mutations, which is an OAV treatment platform subjected to triple virus structural protein gene modification and triple adenovirus serotype chimerism, and is named as NeoViron. NeoViron can directly deliver tumor neoantigens to a plurality of solid tumors, especially tumors with rare mutations, and a new general strategy is provided for treating a plurality of intractable tumors.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

The invention relates to a computer implemented method for detecting at least one mutation in the genome of a member of a population and to a method for detecting at least one mutation in the genome of a member of a population.

The present invention belongs to the technical field of sequencing in gene therapy. Provided is a detection method for a rare-mutation BRAF gene. The sequencing method comprises: during an amplification process of the BRAF gene of a target sample fragment, adding a blocking primer matched with a wild-type template in the target sample fragment, so as to bind the blocking primer to a denatured wild-type template; and performing sequencing to obtain a sequencing result corresponding to the target sample fragment. During the process of making a sequencing template, the present invention uses the blocking primer to inhibit the wild-type template of the BRAF gene during the amplification process, so as to relatively increase the proportion of a mutant product, thereby achieving the purpose of accurately detecting samples with a lower mutation rate. Therefore, the present method is of an important significance for detecting rare mutations by using a Sanger sequencing method.

The invention discloses a method for generating a hairpin ring for enriching mutation or allele information. According to the invention, a primer extension binding region containing more than 8 basic groups is arranged on a selector; when the selector extends by taking the target DNA as a template and is denatured and renatured, a 3 '-terminal suspended hairpin structure is formed by itself, a 3'-terminal suspended sequence is digested under the action of T4DNA polymerase, a sequence at a gap is supplemented, a hairpin structure intermediate product is formed, and the hairpin structure is used for synthesizing a DNA sequence by taking a genome as a template. And carrying out targeted enrichment on polymorphic site information (wild type and mutant type), and then carrying out information decoding through next-generation sequencing. The method is used for enriching information of rare mutation sites, only common dNTP is needed for single primer amplification, then T4DNA polymerase is added for digesting mismatched sequences in a stem region, completely paired sequences are reserved, and the purpose of enriching the rare mutation sites is achieved. And more than 1000 probes can be subjected to multiple analysis in one PCR tube by using standard laboratory equipment.

Bottleneck Sequencing System (BotSeqS) is a next-generation sequencing method that simultaneously quantifies rare somatic point mutations across the mitochondrial and nuclear genomes. BotSeqS combines molecular barcoding with a simple dilution step immediately prior to library amplification. BotSeqS can be used to show age and tissue-dependent accumulations of rare mutations and demonstrate that somatic mutational burden in normal tissues can vary by several orders of magnitude, depending on biologic and environmental factors. BotSeqS has been used to show major differences between the mutational patterns of the mitochondrial and nuclear genomes in normal tissues. Lastly, BotSeqS has shown that the mutation spectra of normal tissues were different from each other, but similar to those of the cancers that arose in them.

Bottleneck Sequencing System (BotSeqS) is a next-generation sequencing method that simultaneously quantifies rare somatic point mutations across the mitochondrial and nuclear genomes. BotSeqS combines molecular barcoding with a simple dilution step immediately prior to library amplification. BotSeqS can be used to show age and tissue-dependent accumulations of rare mutations and demonstrate that somatic mutational burden in normal tissues can vary by several orders of magnitude, depending on biologic and environmental factors. BotSeqS has been used to show major differences between the mutational patterns of the mitochondrial and nuclear genomes in normal tissues. Lastly, BotSeqS has shown that the mutation spectra of normal tissues were different from each other, but similar to those of the cancers that arose in them.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

To provide systems and methods to detect rare mutations and copy number variation.SOLUTION: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations in comparison to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.SELECTED DRAWING: None

Disclosed are compositions and methods related to detecting rare mutations (e.g., somatic mutations) or genome structure variants using rolling circle-based linear amplification and next generation sequencing.

The invention belongs to the technical field of molecular biology, and particularly relates to a method, electronic equipment and a system for detecting rare cell mutation based on single cell sequencing. The method comprises the following steps: acquiring first single cell sequencing data of a to-be-detected sample and second single cell sequencing data of a target region in the to-be-detected sample; acquiring a map of rare cells in the to-be-detected sample according to the first single cell sequencing data; acquiring mutation site information in the to-be-detected sample according to the second single cell sequencing data; and screening the mutation site information of the rare cells from the mutation site information of the to-be-detected sample according to the spectrum of the rare cells. The method supports cell bar code analysis; mutation detection is performed based on a single cell level, and rare mutation is reserved to the maximum extent; and a prior mutation site is not needed as a reference.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

The invention relates to a computer implemented method for detecting at least one mutation in the genome of a member of a population and to a method for detecting at least one mutation in the genome of a member of a population.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

The invention discloses a gene-phenotype correlation analysis model as well as an establishment method and application thereof, and belongs to the technical field of biological medicines. The model establishment method comprises the following steps: S1, collecting known associated character-gene data to form a gene-character pair; s2, calculating the score of the rare mutation type of each gene by using a formula; s3, analyzing the correlation between the mutation score and the character through linear regression, calculating the weight of each mutation type, optimizing the weight combination, and taking the correlation R2 as an evaluation standard; s4, calculating a rare mutation load score of the sample gene according to a scoring formula and the optimized weight; and S5, analyzing the relevance between the mutation load fraction and the phenotype through a regression method, and constructing a gene-phenotype relevance analysis model. Compared with a traditional gene-base colouring method, the model has better reproducibility and complementarity, and can be used for discovering candidate risk genes of new characters or unknown diseases.

The application discloses a gene-phenotype correlation analysis model and a method and application thereof, and belongs to the technical field of biological medicine. The model establishment method comprises the following steps: S1, collecting known trait-gene data to form a gene-trait pair; S2, calculating the rare mutation type score of each gene by using a formula; S3, analyzing the correlation between the mutation score and the trait by linear regression, calculating the weight of each mutation type, and optimizing the weight combination, so that the correlation R 2 is taken as the evaluation standard; S4, calculating the rare mutation load score of a sample gene according to the scoring formula and the optimized weight; S5, analyzing the correlation between the mutation load score and the phenotype by a regression method, and constructing a gene-phenotype correlation analysis model. Compared with a traditional gene-base collapsing method, the model has good reproducibility and complementarity, and can be used for discovering candidate risk genes of new traits or unknown diseases.

The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

This invention relates to a PAP-liquid phase chip and a high-throughput, high-specificity detection method for gene mutations. The chip contains primers and probes. The primers include forward and reverse primers. The 5' end of the forward primer is biotin-labeled or fluorescently labeled, and the 3' ends of both the forward and reverse primers are mutation-specific nucleotides, with the last nucleotide being a dideoxynucleotide. The 5' end of the probe has an amino group, followed by an 18-25 bp spacer arm, and then a 15-30 bp specific probe containing the mutation site. The probe is covalently linked to a magnetic sheet. The chip combines PAP technology with digital liquid phase chip technology, enabling the detection of rare mutations at a single point in a single tube, as well as the detection of multiple mutation sites in a single tube. This reduces reagent usage and significantly lowers detection costs. It is suitable for both single-sample detection and large-scale sample screening, while offering high sensitivity, high specificity, and high throughput.

The invention relates to the field of gene detection, in particular to a kit and method for detecting thalassemia gene mutation.The kit comprises a connector element, a primer pool and a PCR reagent, the primer pool is composed of primers for detecting HBA gene and HBB gene mutagenesis and primers for detecting reference genes, and the primer pool is composed of primers for detecting HBA gene and HBB gene mutagenesis and primers for detecting HBA gene and HBB gene mutagenesis and primers for detecting HBA gene and HBB gene mutagenesis; the primer for detecting the HBA gene comprises primers for detecting an X specific section, a Y specific section and a Z specific section on an HBA gene cluster. According to the invention, simultaneous detection of deletion type and non-deletion type of thalassemia genes HBA1, HBA2 and HBB can be realized, and the possibility of missing detection of deletion type mutation is greatly reduced. Compared with a traditional detection method, the method has the advantages that the flux is higher, the detection range is wider, rare mutation can be detected more easily, and alpha-thalassemia and beta-thalassemia gene detection is realized at the same time. And one sample only needs one tube reaction, so that the automation of the detection process is easier to realize.

The present disclosure provides a method for monitoring residual disease in a subject. Generally, the method comprises determining a frequency of cancer mutations from a first sample obtained from a tumor biopsy from the subject; determining a frequency of the cancer mutations discovered in the first sample from a second sample comprising cell-free deoxyribonucleic acid (cfDNA) molecules that is obtained from the subject after the subject has undergone a course of treatment for cancer; and determining a presence or absence of cancer in the subject based on an analysis of the frequency of the cancer mutations from sequence data from the second sample, wherein adapters are ligated to at least 20% of the cfDNA molecules using more than a 10× molar excess of adapters relative to the cfDNA molecules in the population of cfDNA molecules.