Medical gene analysis method and system

Abstract

The invention relates to a medical gene analysis method. The method comprises the steps of obtaining individual variation gene information, wherein the individual variation gene information comprisesmulti-site information; selecting a phenotype and inputting the multi-site information and a correction parameter; querying a genotype and phenotype correlation database to obtain a first relationshipvalue of the phenotype correspondingly selected by the multi-site information, and according to the first relationship value and a preset rule, calculating a second relationship value of the individual variation gene information and the corresponding phenotype; querying multiple third relationship values of multi-reference individual variation gene information limited by the correction parameterand the corresponding phenotype in a genotype and phenotype user database, and calculating an average value; and according to a comparison result of the second relationship value and the average valueof the third relationship values, outputting a phenotype assessment result corresponding to the individual variation gene information. The invention furthermore provides a medical gene analysis system. The medical gene analysis method and system can meet the prediction demand of a user on own gene and phenotype relationships.

Description

technical field [0001] The invention relates to the field of gene sequencing, and more specifically, the invention relates to a medical gene analysis method and system. Background technique [0002] Modern medical experiments have proved that many major diseases are related to human gene mutations or variations. For example, 30% of colorectal cancer patients are caused by genetic variation factors. If an individual has a first-degree relative with colorectal cancer, the individual's own risk of colorectal cancer is twice the average risk of the general population. [0003] With the rapid development of high-throughput sequencing technology and the sharp drop in sequencing costs, gene sequencing has become popular for ordinary users. Therefore, ordinary users have an increasing demand for predicting the relationship between their own genes and major diseases. However, existing technologies do not There is no relatively complete medical gene analysis system or method that can...

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Problems solved by technology

[0003] With the rapid development of high-throughput sequencing technology and the sharp drop in sequencing costs, gene sequencing has become popular for ordinary users. Therefore, ordinary users have an increasing demand for predicting the relationship between their own genes and major diseases. However, existing technologies do not There is no relatively complete medical gene analysis system or method to meet the needs of users

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