Automatic gene physical examination report generation method and system

Abstract

The invention relates to the technical field of gene physical examination, and discloses an automatic gene physical examination report generation method and system. The system comprises a gene data acquisition module, a gene data analysis processing module, a gene data storage module, a gene typing information and phenotype database module, a phenotype description and guidance suggestion databasemodule, a gene physical examination report content customizing module and a report generation module. According to the method, various phenotypes and health conditions of individuals are analyzed fromthe gene level, the phenotypes cover disease risks, individual genetic characteristics, accurate medication guidance and the like, and the issued report is suitable for various scenes and high in applicability; the population distribution specificity of the genetic typing information, the phenotypic database and the SNP typing frequency using background data is obvious, so that the method is morereasonable and accurate, and the technicality is ensured; the report content supports self-definition and can be selected and adjusted according to requirements, so that the actual application scenecan be better met; meanwhile, the method provided by the invention is automatically controlled by a computer, the report generation link is simplified, the labor cost is reduced, and the report generation efficiency is improved.

Description

technical field [0001] The invention relates to the technical field of genetic medical examination, in particular to a method and system for automatically generating a genetic medical examination report. Background technique [0002] With the completion of the Human Genome Project at the beginning of this century, the genome and health-related industries have developed rapidly, a large number of research results have emerged, and more and more genes and loci related to diseases have been identified, such as certain mutations in BRCA1 or BRCA2. Increased individual risk of breast and ovarian cancer. The detection of these susceptibility genes also makes it possible to prevent, intervene and assess the risk of diseases. For most diseases, the etiology can be found in genes, so genetic analysis and interpretation have also become an important part of disease-related analysis. The first link is to assess the risk of disease occurrence and provide professional genetic counseling...

AI Technical Summary

Problems solved by technology

The advantage of this method is that it can automatically generate a cancer gene detection report. The disadvantage is that the applicable scenario is single, and the screening and filtering steps are cumbersome. It is necessary to query the biomedical database according to the screening results first, and then annotate the mutation file.

[0005] At present, there is still a lack of a comprehensive, reasonable and highly automated genetic medical examination report generation system in China. Therefore, an automatic genetic medical examination report generation method and system is designed, which is suitable for genetic medical examination in various scenarios and improves the efficiency of generating reports. Degree of automation, diverse functions, strong applicability, practical significance and good application prospects

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