Rare disease auxiliary reasoning method and system based on phenotype visualization

Abstract

The invention discloses a rare disease auxiliary reasoning method and system based on phenotype visualization. The method comprises the following steps: constructing a phenotype semantic hierarchy network and a rare disease phenotype feature network; calculating a phenotype co-occurrence relation and phenotype specificity of a disease; visualizing the phenotype semantic hierarchy network, the phenotype co-occurrence relationship and the rare disease phenotype feature network into a network graph; according to the phenotype semantic hierarchy network, the phenotype co-occurrence relation of the rare disease and the phenotype feature network of the rare disease, conducting similarity calculation on the collected phenotype features of the patient, and obtaining candidate diseases; optimizing the phenotype information of the patient based on the phenotype semantic hierarchy network, the phenotype co-occurrence relation of the rare diseases and the candidate diseases, and obtaining an optimized phenotype set; and comparing and displaying the candidate diseases and the optimized phenotype set by using a visual rare disease phenotype feature network, and assisting a doctor to identify and diagnose the rare disease. The method and the system can assist doctors in improving the diagnosis efficiency of rare diseases.

Description

technical field [0001] The present invention relates to rare disease auxiliary reasoning, in particular to a method and system for rare disease auxiliary reasoning based on phenotype visualization. Background technique [0002] Rare diseases, also known as orphan diseases, are those diseases with extremely low incidence, usually genetic diseases. The World Health Organization (WHO) combines the recognition of rare diseases in different regions, and defines rare diseases as diseases with a prevalence rate of 6.5 to 10 per 10,000 people. [0003] Although the prevalence and prevalence of rare diseases are very low, given the huge population base in China, the scale of rare disease patients should not be underestimated. The number of rare disease patients in my country exceeds 20 million. There are nearly 7,000 rare diseases recognized internationally, accounting for about 10% of human diseases; about 80% of rare diseases are caused by genetic causes, and other causes include ...

AI Technical Summary

Problems solved by technology

[0007] The present invention aims at the problem of inaccurate and incomplete collection of patient phenotypes during the diagnosis process of rare diseases and the collection of phenotypes unrelated to the target disease, which leads to poor results in the diagnosis of rare disease phenotypes, and provides a visual phenotype-based rare Disease-assisted reasoning method and system, combined with the semantic similarity calculation of disease phenotype features, to achieve fast and effective rare disease-assisted reasoning, and assist doctors to improve the efficiency of rare disease diagnosis

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