Monogenic disease name recommendation method and system

Abstract

The invention discloses a monogenic disease name recommendation method and system. A monogenic disease name of a user can be accurately, efficiently and comprehensively recommended. The method comprises the following steps: marking nodes of clinical features in a feature set I input by a user on a standardized clinical feature phenotype tree; traversing the nth monogenic disease name in a feature relation database, and marking nodes of standard clinical features in a corresponding feature set A on the standardized clinical feature phenotype tree; on the basis of node marks on the standardized clinical feature phenotype tree, matching optimal standard clinical features in one-to-one correspondence with each clinical feature in the feature set I from the feature set A; calculating a discrete increment of each clinical feature and a corresponding optimal standard clinical feature link respectively, and accumulating to obtain a total discrete increment; and enabling n = n + 1 to re-traverse the nth monogenic disease name in the feature relation database until the traversal of monogenic disease names in the feature relation database is completed, summarizing and sorting the total discrete increments corresponding to the feature set I and each feature set A, and outputting the monogenic disease name corresponding to the minimum total discrete increment.

Description

technical field [0001] The invention relates to the field of digital medical technology, in particular to a method and system for recommending names of monogenic diseases. Background technique [0002] Birth defects, also known as congenital defects, refer to the general term for various structural deformities and functional abnormalities at birth caused by congenital, genetic and adverse environmental reasons. The national birth defect rate is as high as 5.6%. The annual birth population in my country is 16-20 million, and the number of new birth defects is about 900,000 cases every year. Among them, there are about 250,000 cases of birth defects that are clinically visible at birth. The incidence of some birth defects is as follows: rising trend. Birth defects can be divided into three categories according to etiology: one is caused by genetic factors, including chromosomal abnormalities and single-gene disease mutations; the other is caused by environmental factors, inclu...

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Problems solved by technology

[0004] Single-gene diseases have the following complex characteristics: 1. There are many types of single-gene diseases. At present, there are more than 8,000 kinds of single-gene diseases recorded in the OMIM database, and the total incidence rate is as high as 1% or more; 2. The phenotype of single-gene diseases is complex, and the same single gene The phenotype of the disease is highly heterogeneous, and there is a phenomenon of overlapping clinical features between different single-gene diseases; 3. The genetic patterns of single-gene diseases are diversified. Single gene disorders can also show the same pattern of inheritance

These complex factors will make it difficult for clinicians to fully understand the phenotypes of all monogenic diseases, which will bring great difficulties to the clinical diagnosis and treatment of monogenic diseases, easily cause misdiagnosis and missed diagnosis, and make patients with monogenic diseases have to Repeated visits to different hospitals have increased the financial burden and pressure on the families of patients with single gene diseases

[0005] The tertiary prevention strategy has played a greater role in the prevention and control of monogenic diseases. The primary prevention refers to preventing the occurrence of birth defects. The current measures include pre-marital examination, genetic counseling, pre-pregnancy health care, etc., but their specificity is insufficient. It cannot effectively prevent hereditary birth defects; secondary prevention refers to reducing the birth of defective children through early detection, early diagnosis and early intervention during pregnancy. Maternal health care services, prenatal screening and prenatal diagnosis are the current secondary prevention Main measures; tertiary prevention refers to timely and effective diagnosis, treatment and rehabilitation after the birth of children with birth defects to improve the quality of life of children, prevent or reduce disability due to illness, and promote health. The current main measures are congenital Screening for genetic metabolic diseases such as hypothyroidism and PKU and hearing impairment

However, the high-throughput detection of monogenic diseases currently on the market is generally a single or common hundreds of monogenic diseases, and the detection cost ranges from 500 for a single detection to 60,000 yuan for a high coverage rate. The detection cycle is: general experimental results 2-3 weeks, paper report 20 working days, expensive and long cycle

For example, services related to genetic testing launched by Huada Genomics, Boao Testing, Jinweizhi, Baimeike, Annoroad, Wankangyuan Gene, etc. focus on sequencing, which is the most basic basic data analysis, and the mining is relatively rough. At the same time, the coverage of single-gene diseases is also limited, and there is no in-depth combination of clinical disease phenotype and functional variation annotation information to confirm single-gene diseases and related variations, and there is no accurate and personalized genetic interpretation analysis

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