TH19604C3 - A system for detecting genome-wide sequencing mutations and such methods. - Google Patents

Abstract

Summary of the invention which appears on the advert page ReadFile:------08/01/2564------(OCR) This invention is a development of a system for a universal sequencing mutation test. Developing processes for screening and interpreting snip location more accurately, aimed at creating an automated system to assist in the analysis of mutations in regions with low DNA content and quality. of lowcoverage data by processing the detection of mutations occurring, looking at the pedigree genetic probabilities against the parental generations of that sample sequence to This is traceable to increase the confidence that the low signal site found is the site of the actual mutation and affects the accuracy of genetic anomalies. Database of that population to improve accuracy by using allele frequencies occurring in the population to estimate the probability of mutation and also considering the importance of location. found by comparing it with the variable b database The mutation location indicates the severity and variation of amino acids on the protein chain. This fabrication process is interpreted in an easy-to-understand graph that shows all The quality of the detected DNA signal and the significance of the mutation base location affecting genetic disease were determined and summarized as a score for further analysis. Easier--------------Page 1 of Page 1 Summary This invention is a development of a system for detecting wholegenomesequencing mutations from a genome. A more accurate screening and interpreting process for snip locations to focus on creating an automated system to assist in the analysis of mutations in regions with low DNA content and lowcoverage quality. Processing of mutation location detections, looking at pedigree genetic probabilities against parental generations of a sample's sequence for traceability to increase belief. We assumed that the low signal location was the site of the mutation. It can also be compared with population databases to increase accuracy by using allele frequency data. In the population to assess the probability of mutation and, in addition, considering the significance of the found location, it was compared with the mutant location variation database to indicate severity and variation. The results of this fabrication process are interpreted in an easy-to-understand graph that shows both the quality of the detected DNA signal and the importance of the base location. The number of mutations that affect genetic diseases are summarized and summarized into scores for easier use in further analysis.

Claims (9)

Claims (all) that will not appear on the advertised page:------08/01/2021------(OCR) 1. The system for genome-wide mutation testing consists of an NGS(1) sequencing unit that reads the DNA sequence data of the sample DNA to be tested for genome-wide sequencing. Genome-wide mutation detection unit(2) performs genome-wide mutation detection from sample DNA sequencing data obtained from NG readout units. The splicing node serves as a link between the NGS sequencing read(1) and the genome-wide sequencing(2) sequencing data. derived from the NGS(1) sequencing unit to transmit and receive the sequence data of the sample DNA to be analyzed, with a particular characteristic being the genome-wide sequencing sequencing unit. (2) It works according to the following steps: The mutation search process compares the gene strand with the human genome reference strand to locate the mutation location, which compares each loci across G. The data will not be separated if the quality of the data is insufficient, but will be separated into another group for analysis by comparing the strand with the reference strand of the human genome to find the location. mutations, which compare each location across the genome, the process of comparing mutation locations to find locations associated with rare pathogenesis by using genealogy information to assist in the use of paternal information The mutation site screening process was used to screen for potential mutation sites. A clearly transmitted disease 2. A system for genome-wide sequencing assays under claim 1 where such genome-wide sequencing units(2) contain a central processing unit or memory. memory or hard disk or input port or display unit (3) one or more combinations 3. A system for genome-wide sequencing based on claims 1 or 2 where more than one such central processing unit can be used to accelerate processing efficiency. 4. A system for genome-wide mutation testing in accordance with any of the 1 to 3 claims in which the screening process for mutation loci in the genome-wide mutation testing unit M(2) consists of the following steps: i. Adding information on mutation loci to determine how severe the effect of variation is in each loci i. i. Mutation site screening. It uses screener selection based on the impact of the mutation, whether the found mutation site is severity and associated with the occurrence of genetic disease by predicting the severity of the site. mutations and compared to previously reported mutation databases. 5. A system for the detection of genome-wide sequencing pursuant to any one of Claims 1 to 4 in which such display(3) is displayed or reported in the form of a two-dimensional graph. 6. A system for genome-wide mutation detection according to the claim5 where such two-dimensional graphs are constructed between the quality of the data and the severity of the effects caused by the mutation loci. This makes it possible to choose which mutations should be considered to be used as genetic markers in the future. 7. The genome-wide mutation detection method consists of the process of locating mutations by comparing the genome-wide sequence with the human genome reference strand to find the location of the mutation by comparing each loci across the genome. Genetic genomics is used to locate mutations associated with rare pathogenesis using genealogy data, which uses paternal data to help confirm variations in offspring. Screening mutation loci to screen for potential loci for mutation. The mutation loci screening process selects loci that are distinct and clearly correlate with the expression of inherited disease. Specifically, the mutation locator procedure compares the gene with the human genome reference gene without isolating the data with insufficient data quality, but isolating it into another group for analysis. They were compared to human genome reference strands to find mutation sites that compared each location across the genome. 8. A genome-wide sequencing method according to Claim 7 where the screening process for such mutation loci consists of the following steps: i. Adding information on mutation loci to determine how severe the effect of variation is in each loci i. i. Mutation site screening. It uses screener selection based on the impact of the mutation, whether the found mutation site is severity and associated with the occurrence of genetic disease by predicting the severity of the site. mutations and compared to previously reported mutation databases. 9. A genome-wide sequencing method according to Claim 7 or 8 where the selection process for such mutation loci is displayed or reported in the form of a two-dimensional graph1. 0. A genome-wide sequencing method based on claim9, in which such a two-dimensional graph is constructed between the quality of the data and the severity of the effect caused by the mutation loci, makes able to choose which mutations should be selected to be used as genetic markers --Page 1 of the number 3 claims page 1. The system for genome-wide mutation testing consists of an NGS(1) sequencing unit that reads the DNA sequence data of the sample DNA to be tested for genome-wide sequencing. Genome-wide mutation detection unit(2) performs genome-wide mutation detection from sample DNA sequencing data obtained from NG readout units. The splicing node serves as a link between the NGS sequencing read(1) and the genome-wide sequencing(2) sequencing data. derived from the NGS(1) sequencing unit to transmit and receive the sequence data of the sample DNA to be analyzed, with a particular characteristic being the genome-wide sequencing sequencing unit. (2) It works according to the following steps: The mutation search process compares the gene strand with the human genome reference strand to locate the mutation location, which compares each loci across G. The data will not be separated if the quality of the data is insufficient, but will be separated into another group for analysis by comparing the strand with the reference strand of the human genome to find the location. mutations, which compare each location across the genome, the process of comparing mutation locations to find locations associated with rare pathogenesis by using genealogy information to assist in the use of paternal information The mutation site screening process was used to screen for potential mutation sites. A clearly transmitted disease 2. A system for genome-wide sequencing assays under claim 1 where such genome-wide sequencing units(2) contain a central processing unit or memory. memory or hard disk or input port or display unit (3) one or more combinations 3. A system for genome-wide sequencing based on claims 1 or 2, where more than one such central processor can be used to accelerate the processing of page 2 of the three pages. 4. A system for genome-wide mutation testing in accordance with any of the 1 to 3 claims in which the screening process for mutation loci in the genome-wide mutation testing unit M(2) consists of the following steps: i. Adding information on mutation loci to determine how severe the effect of variation is in each loci i. i. Mutation site screening. It uses screener selection based on the impact of the mutation, whether the found mutation site is severity and associated with the occurrence of genetic disease by predicting the severity of the site. mutations and compared to previously reported mutation databases. 5. A system for the detection of genome-wide sequencing pursuant to any one of Claims 1 to 4 in which such display(3) is displayed or reported in the form of a two-dimensional graph. 6. A system for genome-wide mutation detection according to the claim5 where such two-dimensional graphs are constructed between the quality of the data and the severity of the effects caused by the mutation loci. This makes it possible to choose which mutations should be considered to be used as genetic markers in the future. 7. The genome-wide mutation sequencing method consists of the process of locating mutations by comparing the strands with the human genome reference strands to find the loci of the mutation by comparing each loci. A genome-wide method of comparing mutational loci to find loci associated with rare disease pathogenesis using genealogy data is used by paternal data to help confirm the mutation in offspring. Screening process Mutation loci to screen for potential loci for mutation. The mutation loci selection process selects loci that are distinct and clearly correlate with the expression of inherited disease. The mutation search process compares the gene strands with the human genome reference strands without isolating the data with insufficient data quality, but isolating them into another group for analysis. The analysis was performed by comparing the human genome reference strands to find the loci of the mutation which compared each loci throughout the genome on page 3 of the 3 pages. 8. A genome-wide sequencing method according to Claim 7 where the screening process for such mutation loci consists of the following steps: i. Adding information on mutation loci to determine how severe the effect of variation is in each loci i. i. Mutation site screening. It uses screener selection based on the impact of the mutation, whether the found mutation site is severity and associated with the occurrence of genetic disease by predicting the severity of the site. mutations and comparisons with previously reported mutation databases. 9. A genome-wide sequencing method according to Claim 7 or 8 where the selection process for such mutation loci is displayed or reported in the form of a two-dimensional graph1. 0. A genome-wide sequencing method based on claim9 in which such a two-dimensional graph is constructed between the quality of the data and the severity of the effect caused by the mutation loci. can choose which mutations should be considered for selection to be used as genetic markers in the future