Shen Feichen, Wang Liwei, Liu Hongfang
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Stud Health Technol Inform. 2017;245:581-585.
Phenotypes are defined as observable characteristics and clinical traits of diseases and organisms. As connectors between medical experimental findings and clinical practices, phenotypes play vital roles in translational medicine. To facilitate the translation between genotype and phenotype, Human Phenotype Ontology (HPO) was developed as a semantically computable vocabulary to capture phenotypic abnormalities found in human diseases discovered through biomedical research. The use of HPO in annotating phenotypic information in clinical practice remains unexplored. 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 and assessed the distribution information of HPO terms in the corpus. We also analyzed the distributional difference of HPO terms among demographic groups. We further demonstrated the potential application of the annotated corpus to support knowledge discovery in precision medicine through Wilson's Disease.
表型被定义为疾病和生物体的可观察特征及临床性状。作为医学实验结果与临床实践之间的桥梁，表型在转化医学中发挥着至关重要的作用。为促进基因型与表型之间的转化，人类表型本体（HPO）作为一种语义可计算的词汇表被开发出来，用于捕捉通过生物医学研究发现的人类疾病中存在的表型异常。HPO在临床实践中注释表型信息的应用仍未得到探索。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HPO在临床领域注释表型信息的应用，并评估了语料库中HPO术语的分布信息。我们还分析了HPO术语在不同人口统计学群体中的分布差异。我们进一步通过威尔逊病证明了注释语料库在支持精准医学知识发现方面的潜在应用。
