Golec Marcin, Kamdar Maulik, Barteit Sandra
Heidelberg Institute of Global Health, Faculty of Medicine and University Hospital, Heidelberg University, Heidelberg, Germany.
Center for Advanced Clinical Solutions, Optum Health, Eden Prairie, MN, United States.
JMIR Res Protoc. 2023 Aug 11;12:e48645. doi: 10.2196/48645.
Fibroproliferative or fibrotic diseases (FDs), which represent a significant proportion of age-related pathologies and account for over 40% of mortality in developed nations, are often underrepresented in focused research. Typically, these conditions are studied individually, such as chronic obstructive pulmonary disease or idiopathic pulmonary fibrosis (IPF), rather than as a collective entity, thereby limiting the holistic understanding and development of effective treatments. To address this, we propose creating and publicizing a comprehensive fibroproliferative disease ontology (FDO) to unify the understanding of FDs.
This paper aims to delineate the study protocol for the creation of the FDO, foster transparency and high quality standards during its development, and subsequently promote its use once it becomes publicly available.
We aim to establish an ontology encapsulating the broad spectrum of FDs, constructed in the Web Ontology Language format using the Protégé ontology editor, adhering to ontology development life cycle principles. The modeling process will leverage Protégé in accordance with a methodologically defined process, involving targeted scoping reviews of MEDLINE and PubMed information, expert knowledge, and an ontology development process. A hybrid top-down and bottom-up strategy will guide the identification of core concepts and relations, conducted by a team of domain experts based on systematic iterations of scientific literature reviews.
The result will be an exhaustive FDO accommodating a wide variety of crucial biomedical concepts, augmented with synonyms, definitions, and references. The FDO aims to encapsulate diverse perspectives on the FD domain, including those of clinicians, health informaticians, medical researchers, and public health experts.
The FDO is expected to stimulate broader and more in-depth FD research by enabling reasoning, inference, and the identification of relationships between concepts for application in multiple contexts, such as developing specialized software, fostering research communities, and enhancing domain comprehension. A common vocabulary and understanding of relationships among medical professionals could potentially expedite scientific progress and the discovery of innovative solutions. The publicly available FDO will form the foundation for future research, technological advancements, and public health initiatives.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/48645.
纤维增生性或纤维化疾病（FDs）在与年龄相关的病理状况中占很大比例，在发达国家占死亡率的40%以上，但在重点研究中往往未得到充分体现。通常，这些疾病是单独进行研究的，如慢性阻塞性肺疾病或特发性肺纤维化（IPF），而不是作为一个整体来研究，从而限制了对其全面的理解和有效治疗方法的开发。为了解决这个问题，我们提议创建并公布一个全面的纤维增生性疾病本体（FDO），以统一对FDs的认识。
本文旨在阐述创建FDO的研究方案，在其开发过程中促进透明度和高质量标准，并在其公开可用后促进其使用。
我们旨在建立一个涵盖广泛FDs的本体，使用Protégé本体编辑器以网络本体语言格式构建，遵循本体开发生命周期原则。建模过程将根据方法定义的过程利用Protégé，包括对MEDLINE和PubMed信息的针对性范围审查、专家知识以及本体开发过程。一种混合的自上而下和自下而上的策略将指导核心概念和关系的识别，由一组领域专家基于科学文献审查的系统迭代来进行。
结果将是一个详尽的FDO，包含各种关键的生物医学概念，并附有同义词、定义和参考文献。FDO旨在涵盖FD领域的不同观点，包括临床医生、健康信息学家、医学研究人员和公共卫生专家的观点。
预计FDO将通过支持推理、推断以及识别概念之间的关系以应用于多种情境，如开发专业软件、促进研究社区发展和增强领域理解，来刺激更广泛和深入的FD研究。医学专业人员之间通用的词汇和对关系的理解可能会加速科学进步和创新解决方案的发现。公开可用的FDO将为未来的研究、技术进步和公共卫生倡议奠定基础。
国际注册报告识别号（IRRID）：PRR1-10.2196/48645。
