Design and Construction of a Face Phenotype-Disease-Genotype Association Knowledge Base for Intelligent Health Application
10.3969/j.issn.1673-6036.2023.12.014
- VernacularTitle:面向智能健康的人脸表型-疾病-遗传知识库设计与构建
- Author:
Mengqiao HE
1
;
Wen XIE
;
Yingbo ZHANG
;
Rongrong WU
;
Ke ZHANG
;
Chaoying ZHAN
;
Bairong SHEN
Author Information
1. 四川大学华西医院疾病系统遗传研究院 成都 610212
- Keywords:
human face phenotype;
gene;
knowledge base;
intelligent health
- From:
Journal of Medical Informatics
2023;44(12):83-88
- CountryChina
- Language:Chinese
-
Abstract:
Purpose/Significance To elucidate the complex relationship among face phenotype-disease-gene,and to explore the underlying mechanisms of their interactions.Method/Process Based on scientific literature from the PubMed database,natural language processing tools and manual filtering methods are used to extract the knowledge of the concept and relationship of face phenotype-disease-gene reported in the existing literature,and a knowledge base is constructed.Result/Conclusion The study completes the framework design and construction of the knowledge base of the face phenotype-disease-genotype for intelligent health application,which lays a foundation of both data and theory for exploring the interplay between face phenotype-disease-gene,as well as the potential application of face phenotype in disease diagnosis.
