Scoring processing method and device for missense mutation genes, and scoring optimization method and device

Abstract

The invention discloses a scoring processing method and device for missense mutation genes and a scoring optimization method and device. The method comprises the following steps: obtaining the missense mutation genes of a patient; determining that the phenotype of the patient is consistent with the phenotype of the missense mutation gene associated disease, and determining that a to-be-verified site in the missense mutation gene is a new site; configuring a weight factor corresponding to each evaluation item of the missense mutation gene; evaluating the missense mutation gene to obtain the score of each evaluation item; and according to the score of each evaluation item and the weight factor corresponding to each evaluation item, obtaining a weighted sum, wherein the weighted sum is the score of the missense mutation gene. According to the method and the system, the problem that a scoring method and a system for accurately, objectively and quickly evaluating the harmfulness of human gene missense variation to the gene function are lacked in the prior art to guide scholars to perform functional verification on the missense variation is solved, so that a relatively objective and accurate evaluation mode for the harmfulness of the human gene missense variation to the gene function is provided.

Description

technical field [0001] The present application relates to the field of genes, in particular, to a method for scoring and processing missense variant genes, an optimization scoring method and a device. Background technique [0002] With the maturity of next-generation sequencing technology and the wide application of whole exome sequencing technology in the field of genetic disease diagnosis, more and more missense variants have been reported. [0003] The inventors found that there is currently no systematic assessment method to assess whether missense variants lead to a decline in gene function, and whether they have the significance of functional verification. Therefore, the prior art lacks an accurate, objective, and rapid scoring method and system for evaluating the harmfulness of human gene missense variants to gene function to guide scholars to perform functional verification for missense variants. Contents of the invention [0004] The embodiment of the present app...

AI Technical Summary

Problems solved by technology

[0004] The embodiment of the present application provides a scoring processing method for missense variant genes, an optimization scoring method and a device to at least solve the lack of accurate, objective and rapid scoring of the harmfulness of human gene missense variants to gene function in the prior art Methods and systems to guide researchers in the functional validation of missense variants

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