Design and Construction of a Face Phenotype-Disease-Genotype Association Knowledge Base for Intelligent Health Application / 医学信息学杂志

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.