Bioinformatics analysis method and system for next-generation sequencing DNA mutation detection

Abstract

The invention provides a bioinformatics analysis method and system for next-generation sequencing DNA mutation detection. The system comprises a bio-information analysis module used for providing basic component units of a biological analysis process and finishing basic functions of bio-information analysis, an intermediate data conversion module used for performing format conversion on data generated by the bio-information analysis module and providing biological analysis data sources and results meeting the requirements, and a running environment configuration module used for configuring relative paths or absolute paths of all input files, output files, configuration files, data files, temporary files, log records, scripts and applications during running of different biological analysis processes and running related environment variables. According to the method and the system, the design is performed only for the DNA mutation detection, namely, a specific bio-information analysis process, so that unnecessary functions are prevented from being introduced, the maintainability and stability of the system are improved, and the flexibility maximization of process establishment is ensured.

Description

technical field [0001] The invention relates to the technical field of bioinformatics, in particular to a method and system for bioinformatics analysis of DNA mutation detection by next-generation sequencing. Background technique [0002] Bioinformatics analysis, used for mutation detection of next-generation sequencing data, is to detect certain biological phenotypes ( Genetic diseases, tumors, drug metabolism, etc.) related mutations. The main method is to use computer software and hardware technology to analyze and process the biological information of a large number of DNA base sequences obtained from the sequencing of samples, so as to obtain the sites that are inconsistent with the reference genome and the relevant information of these sites. [0003] In the process of bioinformatics from scientific research to production application, bioinformatics analysis process scripts and software need to be engineered to improve its reliability, maintainability, and product qua...

AI Technical Summary

Problems solved by technology

Its characteristic is that the process is divided into different modules according to the order of analysis. Each module is highly configurable, but the stability and maintainability of the entire system are very low.

It is not suitable for the clinical production application of genomic DNA mutation detection, which has a relatively fixed type of analysis but requires extremely high stability and moderate maintainability requirements.

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