Intelligent interpretation method and system for human genetic disease gene detection

Abstract

The invention provides an intelligent interpretation method and system for human genetic disease gene detection, and relates to the field of intelligent interpretation of gene detection.The method comprises the steps that 1, a gene sample file is collected, a docker container is called to conduct variation site annotation on the gene sample file, and an annotation result file is generated; 2, collecting a gene list file, and calling a docker container to carry out variation site annotation result quality control adjustment on the annotation result file to generate a quality control result file; 3, carrying out evidence grade division on annotation attributes of variation points in the quality control result file, and carrying out pathogenicity discrimination according to pathogenicity discrimination rules to generate an interpretation result file; and 4, collecting an Excel file, filling the content of the interpretation result file into the Excel file, and outputting a final report. Through a complete intelligent interpretation process, standardization, automation and modularization of human genetic disease knowledge interpretation are realized.

Description

technical field [0001] The invention relates to the field of intelligent interpretation of gene detection, in particular to an intelligent interpretation method and system for genetic detection of human genetic diseases. Background technique [0002] In 2011, the National Academy of Sciences, the National Academy of Engineering, the National Institutes of Health and the American Science Council jointly issued the "Towards Precision Medicine" initiative. The report "Towards Precision Medicine" drafted by the famous genomicist Dr. MaynardV.Olson was officially published. This report proposes to closely integrate genetic association research with clinical medicine to achieve precise treatment and effective early warning of human diseases. [0003] In 2015, Obama proposed the "Precision Medicine" plan in his State of the Union speech, calling on the United States to increase medical research funding, promote individualized genomics research, and formulate individual medical pla...

AI Technical Summary

Problems solved by technology

[0006] 1. Limitations of the knowledge base: manual collection is not only inefficient, but also cannot fully reflect the systematic and real-time nature of evidence

[0007] 2. Limitations of interpretation: Although there are ACMG guidelines, the rules are complex, and the interpretation rules need to be further adjusted for a certain genetic disease; moreover, the current genetic testing products for genetic diseases on the market are mainly completed through simple judgment or manual interpretation. The results are not comprehensive enough, not rigorous enough, there is no unified standard, and it depends on the knowledge level and experience level of the interpreters, which is easy to form subjective bias. The phenomenon of different interpretation results of the same data has appeared in SCI journal reports many times

[0008] 3. Limitations of batch reports: When faced with large-scale sequencing data, the interpretation, report writing and other links cannot provide effective and high-quality services for the subjects

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