8 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 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 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.