Phenotype-based pathogenic gene quantitative measurement and calculation method and equipment

Abstract

The invention relates to a phenotype-based pathogenic gene quantitative measurement and calculation method, which comprises the following steps: obtaining clinical symptoms and gene detection resultsof a patient, and obtaining correlation scores of pathogenic genes and clinical symptom phenotypes in the gene detection results based on a preset gene and clinical symptom phenotype correlation modelaccording to the clinical symptoms and the gene detection results of the patient. According to the invention, due to the fact that a gene cannot necessarily and completely cause certain clinical symptom phenotype, a quantitative index is required to describe the possibility, and according to clinical symptoms shown when a patient sees a doctor and gene detection results obtained through gene sequencing, correlation scores of all pathogenic genes in the gene detection results and clinical symptom phenotypes are calculated, and the higher the correlation scores of the pathogenic genes and a certain clinical symptom phenotype are, the more easily the clinical symptom phenotype is caused by the pathogenic genes, so that a genetic counselor can conveniently evaluate the pathogenic gene causingthe disease symptoms of the patient.

Description

technical field [0001] The present application relates to the field of biological information technology, in particular to a phenotype-based quantitative calculation method and equipment for disease-causing genes. Background technique [0002] In the process of molecular diagnosis of genetic diseases, it is necessary to combine the patient's clinical symptom phenotype and genetic test results to find the gene mutation that can explain the patient's phenotype. The existing next-generation sequencing technology can detect individual gene mutations on a large scale, but due to the huge number of mutations and the complex relationship between mutations and phenotypes, it is difficult to directly conduct clinical diagnosis of genetic diseases from sequencing results. Contents of the invention [0003] In order to overcome the problems existing in related technologies at least to a certain extent, the present application provides a phenotype-based quantitative calculation method...

AI Technical Summary

Problems solved by technology

The existing next-generation sequencing technology can detect individual gene mutations on a large scale, but due to the huge number of mutations and the complex relationship between mutations and phenotypes, it is difficult to directly conduct clinical diagnosis of genetic diseases from sequencing results

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