DNA (Deoxyribose Nucleic Acid) and protein level mutation analysis system

Abstract

The invention provides a DNA (Deoxyribose Nucleic Acid) and protein level mutation analysis system, which comprises a reading and indexing judgment module and a mapping module, wherein the reading and indexing judgment module is used for readubg a gene mutation file, carrying out formatting processing on the gene mutation file to obtain a standard name, indexing a transcript sequence, gene information and gene transcript annotation information, constructing an amino acid codon corresponding correlation chart, and judging a mutation generation level and mutation mode, and judging whether mutation naming is protein level mutation or genome DNA level mutation or CDS (Coding Sequence) coding region mutation; and the mapping module is used for independently entering different level mutation mapping flows according to the judgment result of the reading and indexing judgment module to obtain the mapping relationship of three types of mutation naming. The system undertakes the phenotype relevant gene mutation and the polymorphic site of literature mining, and outputs the mapping relationship of various types of mutation naming so as to achieve a purpose of finishing the correspondence and the like of the gene mutation and the polymorphic sites of the pathopoiesia variation and the sequencing identification of the literature mining.

Description

technical field [0001] The invention belongs to the field of gene information data processing, in particular to a DNA and protein level mutation analysis system. Background technique [0002] In the more than 50 years since Watson and Crick discovered the double helix structure of DNA, the exploration of genetic variation has played an important role in the study of the occurrence, development, prevention and treatment of human diseases. Opened up a wide space. In recent years, from microarray chips, Sanger sequencing to the current high-throughput sequencing, with the advancement of technology, more and more gene variations and polymorphic sites have been detected. They reveal the mechanisms of diseases and many phenotypes at the molecular level, bringing new hope to unravel the mysteries of life and conquer diseases. [0003] However, the gene mutations and polymorphic sites identified by different researchers lack a unified expression in naming. For example, the tumor s...

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Problems solved by technology

Since there is no unified standard for the naming of gene mutations in a large number of previous studies, it is difficult to further annotate and interpret the results of the analysis

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