Shen Feichen, Wang Liwei, Liu Hongfang
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Stud Health Technol Inform. 2017;245:1285.
Phenotypes are defined as observable characteristics of organisms. To facilitate the translation between genotype and phenotype, Human Phenotype Ontology (HPO) was developed as a semantically computable standardized vocabulary to capture phenotypic abnormalities found in human. In this study, we investigated the use of HPO to annotate phenotypic information in clinical domain by leveraging a corpus of 12.8 million clinical notes created from 2010 to 2015 for 729 thousand patients at Mayo Clinic Rochester campus.
表型被定义为生物体可观察到的特征。为了便于在基因型和表型之间进行转换，人类表型本体论（HPO）被开发为一种语义上可计算的标准化词汇表，用于捕捉人类中发现的表型异常。在本研究中，我们利用梅奥诊所罗切斯特校区2010年至2015年为72.9万名患者创建的1280万份临床记录语料库，研究了使用HPO对临床领域的表型信息进行注释的情况。
