Analysis detection system for screening single gene hereditary disease pathogenic gene based on patient clinical symptom data and whole exome sequencing data

Abstract

The invention relates to an automated analysis system for automatically screening the single gene disease and hereditary disease pathogenic gene based on patient clinical phenotype information and whole exome sequencing data. The system comprises four automatic analysis modules: (1) an automatic transferring subsystem for automatic transferring from patient clinical report to standardized phenotype term (HPO, human phenotype ontology); (2) an automatic analysis system for screening disease pathogenic gene based on patient standardized phenotype; (3) an automatic analysis system for screening disease pathogenic gene based on patient whole exome sequencing data; and (4) a p value integration system. The system adopts a possibility model to calculate the possibility of developing a certain single gene hereditary disease under the situation that a certain standard phenotype of the patient is provided, and utilizes a computer statistic check method to systematically evaluate the significance level of developing a certain single gene hereditary disease after all standard phenotype of the patient are provided, so as to accordingly achieve the purpose of screening candidate disease pathogenic gene based on clinical standard phenotype.

Description

technical field [0001] The invention relates to the field of computer data processing, in particular to the fields of electronic data query and data processing and processing. More specifically, it involves the application in clinical diagnosis practice based on the integration of patient clinical phenotype information and whole exome sequencing data to automatically screen single-gene disease genetic disease-causing genes. Computer programs and their typical applications in clinical medical research and practice. Background technique [0002] With the rapid development of molecular biology and the implementation of the Human Genome Project, people's understanding of genetic diseases has reached an unprecedented height. More and more diseases have been confirmed to be related to genetics, including many common diseases that endanger human health, such as cardiovascular and cerebrovascular diseases, high blood pressure, cancer, etc. Clinical medicine and molecular genetics ...

AI Technical Summary

Problems solved by technology

Thus, methods utilizing MICA may lead to the discovery of high similarities between two pathologically distinct but anatomically similar features, leading to false positive diagnostic results.

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