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A method for predicting the functional impact of somatic mutations in cancer

A technology of somatic mutation and prediction method, applied in the field of prediction of the impact of somatic mutation of cancer, can solve the problem of general prediction effect, and achieve the effect of predicting the effect of mutation function

Active Publication Date: 2022-07-29
HARBIN INST OF TECH
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Problems solved by technology

Existing cancer somatic mutation function prediction algorithms are mostly based on mutation-related biological characteristics (for example, sequence conservation), and these algorithms are generally effective in predicting the functional impact of somatic mutations.

Method used

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  • A method for predicting the functional impact of somatic mutations in cancer
  • A method for predicting the functional impact of somatic mutations in cancer
  • A method for predicting the functional impact of somatic mutations in cancer

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specific Embodiment 1

[0035] according to Figure 1 to Figure 4 As shown, the specific optimized technical solution adopted by the present invention to solve the above-mentioned technical problems is: a method for predicting the impact of somatic mutation in cancer, comprising the following steps:

[0036] A method for predicting the functional impact of somatic mutations in cancer, comprising the following steps:

[0037] Step 1: Construct a comprehensive mutation signature set to integrate the mutation frequencies of different populations together;

[0038] The step 1 is specifically:

[0039] Mutations have different frequencies in different populations. When some mutations have a higher frequency in the population, they tend to be harmless mutations, and when some mutations occur at a low frequency, they tend to be harmful mutations; the mutation frequencies of different populations tend to be integrated together as a class of predictive features to predict the functional impact of mutations....

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Abstract

The present invention is a method for predicting the functional impact of cancer somatic mutation. The invention constructs a comprehensive mutation feature set, integrates the mutation frequencies of different populations together; performs conservative estimation based on the mutation sites of multiple species, and estimates the probability that these mutations are harmful mutations; and constructs mutation network features based on the interaction of gene products. , complete the construction of mutation network features; build a deep random forest prediction model based on multiple sampling and hierarchical structure, and make functional predictions for cancer somatic mutations.

Description

technical field [0001] The invention relates to the technical field of cancer somatic mutation function impact prediction, and is a method for predicting the impact of cancer somatic cell mutation function. Background technique [0002] Whether somatic mutations used in cancer research have deleterious effects on the development of molecules, tissues or individuals. With the development of high-throughput biochip technologies such as next-generation sequencing, a large amount of experimental data related to gene mutations has been generated. How to effectively and accurately perform functional annotation of these mutation data is a very meaningful and challenging research work. , by functional annotation of somatic mutations. Existing algorithms for predicting the function of somatic mutations in cancer are mostly based on the relevant biological features of mutations (eg, sequence conservation), and these algorithms are generally effective in predicting the functional impa...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/50G16B30/10G16B40/00G06K9/62
CPCG16B20/50G16B30/10G16B40/00G06F18/24323
Inventor 李杰王东王亚东
Owner HARBIN INST OF TECH
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