| 面向智能健康的人脸表型-疾病-遗传知识库设计与构建 |
| 修订日期：2023-06-05 点此下载全文 |
| 引用本文：何孟桥,谢雯,张影波,等.面向智能健康的人脸表型-疾病-遗传知识库设计与构建[J].医学信息学杂志,2023,44(12):83-88 |
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| 基金项目:国家自然科学基金资助项目(项目编号:32270690)。 |
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| 中文摘要:目的/意义 明确人脸表型-疾病-基因的复杂关系,探索三者相互作用机制。方法/过程 以PubMed数据库中的科学文献为基础,综合利用自然语言处理工具和人工过滤方式对现有文献报道的人脸表型-疾病-基因概念及关系进行知识抽取,并构建知识库。结果/结论 完成面向智能健康的人脸表型-疾病-遗传知识库的框架设计与构建,为探索人脸表型-疾病-基因相互作用机制和人脸表型在疾病诊断中的应用奠定数据和理论基础。 |
| 中文关键词:人脸表型 基因 知识库 智能健康 |
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| Design and Construction of a Face Phenotype-Disease-Genotype Association Knowledge Base for Intelligent Health Application |
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| 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. |
| keywords:human face phenotype gene knowledge base intelligent health |
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