Method for calculating error and error rate of gene mutation detection analysis process

Abstract

The invention discloses a method for calculating an error and an error rate of a gene mutation detection analysis process. The method comprises the steps of preprocessing gene original data of a family member to obtain gene sample data; by utilizing gene mutation detection software, analyzing the gene sample data to obtain a gene site mutation data file in a VCF format; and scanning the mutation data file to detect whether mutation site information of a child mutation file in a family meets a Mendelian inheritance law or not. The actual reproductive genetic mutation rate is extremely low, so that sites not meeting the Mendelian inheritance law are mainly caused by the error of the analysis process. A quantity and a ratio of the sites not meeting the Mendelian inheritance law are namely theerror and the error rate of the gene mutation detection analysis process, and provide a basis for subsequent algorithm optimization and software design.

Description

technical field [0001] The invention relates to the field of biological gene mutation analysis, in particular to a gene mutation detection and analysis process error and error rate calculation method. Background technique [0002] Genome sequencing is the process of using high-throughput sequencing technology to sequence the human genome at a high rate and comparing it with the standard human genome to obtain the genome sequence. In recent years, through large-scale epidemiological surveys, scientists have discovered that a large number of gene variations are closely related to human diseases. But how to analyze and process such a huge sequencing sequence is the most difficult problem now. Therefore, a large number of genetic data analysis software also came into being. [0003] The genome data analysis process mainly includes quality control, sequence alignment, mutation detection, and mutation annotation. At present, the most commonly used bioinformatics analysis softwa...

AI Technical Summary

Problems solved by technology

The direct Mendelian inconsistency between parents and children is mostly caused by false positives caused by sequencing errors, which can greatly help improve the accuracy of mutation detection methods: According to scientific research, when carrying out reproductive inheritance, it is about 1000 One mutation will be generated in 10,000 to 30 million nucleotides, but the current genetic testing and analysis process produces 1 or several detection errors in 100 nucleotides

Images