Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung, Berlin 10117, Germany.
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin 13353, Germany.
Nucleic Acids Res. 2022 Jul 5;50(W1):W677-W681. doi: 10.1093/nar/gkac329.
Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO) uses clinical signs instead of diagnoses and has become the standard annotation for patients' phenotypes when describing single gene disorders. Use of the HPO beyond human genetics is however still limited. With SAMS (Symptom Annotation Made Simple), we want to bring sign-based phenotyping to routine clinical care, to hospital patients as well as to outpatients. Our web-based application provides access to three widely used annotation systems: HPO, OMIM, Orphanet. Whilst data can be stored in our database, phenotypes can also be imported and exported as Global Alliance for Genomics and Health (GA4GH) Phenopackets without using the database. The web interface can easily be integrated into local databases, e.g. clinical information systems. SAMS offers users to share their data with others, empowering patients to record their own signs and symptoms (or those of their children) and thus provide their doctors with additional information. We think that our approach will lead to better characterised patients which is not only helpful for finding disease mutations but also to better understand the pathophysiology of diseases and to recruit patients for studies and clinical trials. SAMS is freely available at https://www.genecascade.org/SAMS/.
精准医学需要精准的表型。人类表型本体（HPO）使用临床症状而非诊断，并已成为描述单基因疾病患者表型时的标准注释。然而，HPO 在人类遗传学以外的应用仍然有限。我们希望通过 SAMS（Symptom Annotation Made Simple）将基于症状的表型分析引入常规临床护理，包括住院患者和门诊患者。我们的基于网络的应用程序提供了对三种广泛使用的注释系统的访问：HPO、OMIM 和 Orphanet。虽然数据可以存储在我们的数据库中，但也可以作为 Global Alliance for Genomics and Health（GA4GH）Phenopackets 导入和导出，而无需使用数据库。网络界面可以轻松集成到本地数据库中，例如临床信息系统。SAMS 允许用户与他人共享数据，使患者能够记录自己的症状（或其子女的症状），从而为医生提供额外的信息。我们认为，我们的方法将导致患者特征得到更好的描述，这不仅有助于发现疾病突变，还有助于更好地了解疾病的病理生理学，并招募患者参加研究和临床试验。SAMS 可在 https://www.genecascade.org/SAMS/ 免费获取。
