Disease prediction method and system, computer equipment and medium

Abstract

The invention provides a disease prediction method and system, computer equipment and a medium. The method comprises the following steps: acquiring mutation site information of chromosomes; extracting data features from a chromosome database according to the mutation site information, and carrying out binarization processing on the feature data to obtain pathogenicity prediction features; inputting the pathogenicity prediction features into a pre-generated disease prediction model, and outputting obtained pathogenicity data; and obtaining a pathogenicity prediction result according to the pathogenicity data. According to the scheme, biological knowledge and statistical knowledge are fused, the relationship between mutation point information and a target disease is mined to a great extent, the accuracy of disease prediction is improved, the applicability is higher, the expansibility is higher, accurate reference for judging the pathogenicity of a certain mutation site can be provided for doctors and patients, and the method can be widely applied to the technical field of biological information.

Description

technical field [0001] The invention belongs to the technical field of biological information, in particular to a disease prediction method, system, computer equipment and storage medium. Background technique [0002] With the update and iteration of genome sequencing technology, the cost of sequencing is getting lower and lower, enabling the commercialization of whole genome sequencing services. This means that in the future, everyone can master their own unique genetic code through commercial gene sequencing technology. However, the popularity of this sequencing technology has brought great challenges to downstream data analysis and interpretation. Because the value that simple sequencing can bring is limited, each patient or individual hopes to know their own physical condition and even the diagnosis and treatment plan of the disease through sequencing technology. Therefore, the interpretation of genome information is very important. [0003] Although there are some ge...

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Problems solved by technology

[0003] Although there are some genome sequencing-based solutions or methods in the prior art, the existing technical solutions for genome-based disease prediction usually have shortcomings and problems such as low accuracy, poor applicability, and poor scalability.

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