The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Semanticly, Athens, Greece.
Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005.
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
人类表型本体 (HPO) 是一个广泛使用的资源,它全面组织和定义了人类疾病的表型特征,通过语义相似性和机器学习算法实现计算推理,并支持基因组和表型分析。HPO 在临床诊断和转化研究中具有广泛的应用,包括基因组诊断、基因疾病发现和队列分析。近年来,世界各地的团体已经将 HPO 从英文翻译成其他语言,并且 HPO 浏览器已经实现了国际化,允许用户在除英语之外的十种语言中查看 HPO 术语标签,在许多情况下还可以查看同义词和定义。自上次报告以来,共开发了 2239 个新的 HPO 术语和 49235 个新的 HPO 注释,其中许多是与精神病学、关节挛缩、免疫学和心脏病学等领域的外部团体合作开发的。医学操作本体 (MAxO) 是一种新的努力,旨在对临床管理中采取的治疗和其他措施进行建模。最后,HPO 联盟正在努力将 HPO 和 GA4GH Phenopacket 模式集成到电子健康记录 (EHR) 中,目标是使 EHR 中罕见病数据的集成更加标准化和可计算。