Single-gene disease name recommendation method and system based on clinical features and sequence variations

Abstract

The invention discloses a single-gene disease name recommendation method and system based on clinical features and sequence variations. The single-gene disease name recommendation method and system can accurately recommend single-gene disease names matched with the condition of a patient. The method comprises the following steps of acquiring case information of the patient; comparing a gene sequence with a human reference genome to obtain an influence score of each genetic variation; traversing a feature set A corresponding to each standard monogenic disease name in a feature relationship database, respectively calculating a set similarity value with each feature set A, outputting the similar standard monogenic disease names and corresponding gene descending order candidates, and constructing a standard monogenic disease name set P; obtaining a plurality of genes corresponding to the monogenic disease names from a preset gene list file, respectively calculating the pathogenicity scoreof each gene, outputting the corresponding standard monogenic disease name descending order candidates, and constructing a standard monogenic disease name set G; and outputting a recommendation resultof the standard monogenic disease names based on an intersection result of the set G and the set P.

Description

technical field [0001] The invention relates to the field of medical information technology, in particular to a method and system for recommending names of monogenic diseases based on clinical features and sequence variations. Background technique [0002] Single gene disease is a common disease, it is a disease caused by a pair of allele mutation, also known as Mendelian genetic disease, its characteristics are as follows: [0003] 1. There are many types of single-gene diseases, and more than 8,000 single-gene diseases have been discovered so far; [0004] 2. The phenotype of single gene disease is complex, the phenotype of the same single gene disease is highly heterogeneous, and there is a phenomenon of overlapping clinical features between different single gene diseases; [0005] 3. The inheritance patterns of single-gene diseases are diversified. Even the same single-gene disease may show different inheritance patterns, and different single-gene diseases may also show...

AI Technical Summary

Problems solved by technology

[0004] 2. The phenotype of single gene disease is complex, the phenotype of the same single gene disease is highly heterogeneous, and there is a phenomenon of overlapping clinical features between different single gene diseases;

[0006] 4. The incidence of most single gene diseases is very low and relatively rare

[0007] These complex factors make it difficult for clinicians to understand all the phenotypes of single gene diseases, which brings great difficulties to the clinical diagnosis and treatment of single gene diseases

Images