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

Inactive Publication Date: 2018-07-24
WANKANGYUAN TIANJIN GENE TECH CO LTD
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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

Method used

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  • A DNA and protein level mutation analysis method
  • A DNA and protein level mutation analysis method
  • A DNA and protein level mutation analysis method

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Embodiment Construction

[0035] It should be noted that, in the case of no conflict, the embodiments of the present invention and the features in the embodiments can be combined with each other.

[0036] The present invention will be described in detail below with reference to the accompanying drawings and examples.

[0037] Principle explanation of the present invention:

[0038] The mapping of different levels of mutations is actually the position positioning and calculation of mutation results at different levels. For different levels of mutations, different mapping methods and steps are required. The present invention mainly aims at the situation that the mutation naming at different levels cannot be directly applied in a unified manner, and maps the relationship of the mutation results at all levels to facilitate the further use of the mutation results.

[0039] like figure 1 As shown, the specific steps are as follows:

[0040] First, an index of gene transcript structure and sequence as well...

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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.

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...

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 薛成海龚永辉王晓君
Owner WANKANGYUAN TIANJIN GENE TECH CO LTD
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