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

A disease-causing gene and gene detection technology, applied in the field of bioinformatics, can solve problems such as complex relationships and huge number of mutations, and achieve the effect of convenient evaluation

Active Publication Date: 2020-09-25
CHILDRENS HOSPITAL OF FUDAN UNIV
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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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  • Phenotype-based pathogenic gene quantitative measurement and calculation method and equipment
  • Phenotype-based pathogenic gene quantitative measurement and calculation method and equipment
  • Phenotype-based pathogenic gene quantitative measurement and calculation method and equipment

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Embodiment Construction

[0051] Reference will now be made in detail to the exemplary embodiments, examples of which are illustrated in the accompanying drawings. When the following description refers to the accompanying drawings, the same numerals in different drawings refer to the same or similar elements unless otherwise indicated. The implementations described in the following exemplary embodiments do not represent all implementations consistent with this application. Rather, they are merely examples of apparatuses and methods consistent with aspects of the present application as recited in the appended claims.

[0052] figure 1 It is a schematic flow chart of a phenotype-based quantitative calculation method for pathogenic genes provided by an embodiment of the present application. Refer to figure 1 , a phenotype-based quantitative calculation method for disease-causing genes, including:

[0053] S11: Obtain the patient's clinical symptoms and genetic test results;

[0054] S12: According to th...

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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...

Claims

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Application Information

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IPC IPC(8): G16H50/70G16B20/20G16B20/30
CPCG16H50/70G16B20/20G16B20/30Y02A90/10
Inventor 董欣然卢宇蓝周文浩吴冰冰王慧君
Owner CHILDRENS HOSPITAL OF FUDAN UNIV
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