10 results about "Rare mutations" patented technology

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.

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 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 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.