A DNA and protein level mutation analysis method

An analysis method and protein technology, applied in the field of DNA and protein level mutation analysis, can solve the problems of annotation and interpretation of results that are difficult to analyze
CN106021983BInactive Publication Date: 2018-07-24WANKANGYUAN TIANJIN GENE TECH CO LTD
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Patent Information

Authority / Receiving Office
CN Β· China
Patent Type
Patents(China)
Current Assignee / Owner
WANKANGYUAN TIANJIN GENE TECH CO LTD
Publication Date
2018-07-24
Estimated Expiration
Not applicable Β· inactive patent

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Abstract

The invention discloses a DNA and protein level mutation analysis method. The method comprises the steps of 1, reading a gene mutation file, and formatting the file into a standard name; 2, indexing a transcript sequence, gene information and gene transcript annotation information, thereby forming an amino acid codon corresponding relationship table; judging a mutation level and a mutation mode, and judging whether a mutation name is protein level mutation, genome DNA level mutation or CDS code area mutation; and 4, entering different level mutation mapping processes according to a judging result of the step 3, thereby obtaining mapping relationships of three mutation names. According to the method, the mapping relationships of various mutation names are output by carrying on phenotypic correlation gene mutation and polymorphic sites mined from literatures, thereby finishing annotating correspondence between pathogenic variation mined from the literatures, and gene mutation and polymorphic sites identified by sequencing.
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Description

technical field

[0001] The invention belongs to the field of genetic information data processing, in particular to a DNA and protein level mutation analysis method. 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 tumo...

Claims

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