评估RDF资源的可解决性,可解析性和一致性:在罕见疾病中的一个用例
Shuxin Zhang1,2, Nirupama Benis3,4, Ronald Cornet3,4
1Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. s.x.zhang@amsterdamumc.nl.
Journal of biomedical semantics
|December 5, 2023
概括
这项研究评估了罕见疾病相关数据资源的质量. 许多资源在可解决,可解析和一致的数据中存在错误,影响互操作性并需要改进指南.
科学领域:
- 生物医学信息学 生物医学信息学
- 数据科学数据科学数据科学
- 语义网络技术 语义网络技术
背景情况:
- 医疗保健数据对于改善患者健康至关重要.
- 基于资源描述框架 (RDF) 的链接数据增强了知识共享.
- 分散的罕见疾病资源的互操作性至关重要.
研究的目的:
- 评估RDF资源在罕见疾病领域的质量.
- 确定影响互操作性的特定质量问题.
- 为改善RDF资源质量提供建议.
主要方法:
- 选择了16个与罕见疾病相关的资源 (图表,元数据集,本体学).
- 在六个指标上测试了资源:可解决性,可解析性和一致性.
- 记录的错误及其比例,表示在RDF.中的结果.
主要成果:
- 在六个指标中的三个指标中发现了质量问题.
- 11个资源有不可解决的URI (0.1%至13.7%).
- 七个资源有未定义的URI;两个资源有错误的"owl:ObjectProperty"使用.
结论:
- 评估了RDF资源质量,并确定了影响罕见疾病领域互操作性的错误.
- 对错误的定性分析为避免提供了洞察力.
- 结果将为高质量的RDF资源开发提供指导方针,并加强生物医学数据的互操作性.
相关概念视频
Rous Sarcoma Virus (RSV) and Cancer
5.1K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
5.1K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Smooth Endoplasmic Reticulum
5.8K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.8K
Protein Folding Quality Check in the RER
3.7K
ER is the primary site for the maturation and folding of soluble and transmembrane secretory proteins. The calnexin cycle is a specific chaperone system that folds and assesses the confirmation of N-glycosylated proteins before they can exit the ER lumen. The primary players of this quality check pipeline are the lectins, ER-resident chaperones, and a glucosyl transferase enzyme. In case the calnexin system in the lumen fails to salvage a misfolded protein, it is transported to the cytoplasm...
3.7K


