Whole-genome tumor mutation load forecasting method and equipment as well as storage medium

Abstract

The invention provides a whole-genome tumor mutation load forecasting method and equipment as well as a storage medium. The whole-genome tumor mutation load forecasting method is characterized by comprising the following steps: storing a forecasting model used for forecasting whole-genome tumor mutation load; obtaining target tumor mutation load of a target area obtained based on the mutation loadobtaining process of a sample probe; forecasting whole-genome tumor mutation load of a to-be-tested sample, wherein by adopting the forecasting model, the whole-genome tumor mutation load of the to-be-tested sample is obtained by forecasting based on the input of the obtained target tumor mutation load; a formula of the forecasting model is y=ax+b, wherein y is the whole-genome tumor mutation load obtained by forecasting; x is the target tumor mutation load; a and b are model parameters; the range of the sequencing length used for calculating the target tumor mutation load of the target tumoris 1.0 to 2.6 MB.

Description

technical field [0001] The invention belongs to the field of biological information, and in particular relates to a whole-genome tumor mutation load prediction method, equipment and storage medium. Background technique [0002] In recent years, immunotherapy has been promoted in the field of lung cancer treatment and has received good feedback. However, immunotherapy is not suitable for everyone. How to further realize precise immunotherapy, select advantageous beneficiary groups, improve the economic efficacy of drugs, etc. Studies have shown that the tumor mutation burden of the whole genome (genome-wide tumor mutation burden) can be used as a potential bio-marker for immunotherapy. [0003] The total number of mutations in the whole genome is counted, divided by the length of the sequencing is the tumor mutation load of the whole genome. [0004] At the ASCO meeting in June 2017, researchers from the Lombardi Comprehensive Cancer Center Salem and others presented thei...

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Problems solved by technology

[0011] However, because the whole-genome tumor mutation load is to count the mutations of all genes in cancer tissues, it is necessary to perform whole-genome sequencing on cancer tissues, which is expensive, and the number of coverage layers of sequencing will be reduced, and many low-coverage mutations cannot be detected. , and, for the interpretation of the sequencing results of the entire genome, there are more special situations, and professionals with a comprehensive understanding of bioinformatics knowledge are required to perform the analysis, which consumes a lot of human resources

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