Introduction: Healthcare data and the knowledge gleaned from it play a key role in improving the health of current and future patients. These knowledge sources are regularly represented as 'linked' resources based on the Resource Description Framework (RDF). Making resources 'linkable' to facilitate their interoperability is especially important in the rare-disease domain, where health resources are scattered and scarce. However, to benefit from using RDF, resources need to be of good quality. Based on existing metrics, we aim to assess the quality of RDF resources related to rare diseases and provide recommendations for their improvement.
Methods: Sixteen resources of relevance for the rare-disease domain were selected: two schemas, three metadatasets, and eleven ontologies. These resources were tested on six objective metrics regarding resolvability, parsability, and consistency. Any URI that failed the test based on any of the six metrics was recorded as an error. The error count and percentage of each tested resource were recorded. The assessment results were represented in RDF, using the Data Quality Vocabulary schema.
Results: For three out of the six metrics, the assessment revealed quality issues. Eleven resources have non-resolvable URIs with proportion to all URIs ranging from 0.1% (6/6,712) in the Anatomical Therapeutic Chemical Classification to 13.7% (17/124) in the WikiPathways Ontology; seven resources have undefined URIs; and two resources have incorrectly used properties of the 'owl:ObjectProperty' type. Individual errors were examined to generate suggestions for the development of high-quality RDF resources, including the tested resources.
Conclusion: We assessed the resolvability, parsability, and consistency of RDF resources in the rare-disease domain, and determined the extent of these types of errors that potentially affect interoperability. The qualitative investigation on these errors reveals how they can be avoided. All findings serve as valuable input for the development of a guideline for creating high-quality RDF resources, thereby enhancing the interoperability of biomedical resources.
Multiple studies have investigated bibliometric features and uncategorized scholarly documents for the influential scholarly document prediction task. In this paper, we describe our work that attempts to go beyond bibliometric metadata to predict influential scholarly documents. Furthermore, this work also examines the influential scholarly document prediction task over categorized scholarly documents. We also introduce a new approach to enhance the document representation method with a domain-independent knowledge graph to find the influential scholarly document using categorized scholarly content. As the input collection, we use the WHO corpus with scholarly documents on the theme of COVID-19. This study examines different document representation methods for machine learning, including TF-IDF, BOW, and embedding-based language models (BERT). The TF-IDF document representation method works better than others. From various machine learning methods tested, logistic regression outperformed the other for scholarly document category classification, and the random forest algorithm obtained the best results for influential scholarly document prediction, with the help of a domain-independent knowledge graph, specifically DBpedia, to enhance the document representation method for predicting influential scholarly documents with categorical scholarly content. In this case, our study combines state-of-the-art machine learning methods with the BOW document representation method. We also enhance the BOW document representation with the direct type (RDF type) and unqualified relation from DBpedia. From this experiment, we did not find any impact of the enhanced document representation for the scholarly document category classification. We found an effect in the influential scholarly document prediction with categorical data.
Background: Open Science Graphs (OSGs) are scientific knowledge graphs representing different entities of the research lifecycle (e.g. projects, people, research outcomes, institutions) and the relationships among them. They present a contextualized view of current research that supports discovery, re-use, reproducibility, monitoring, transparency and omni-comprehensive assessment. A Data Management Plan (DMP) contains information concerning both the research processes and the data collected, generated and/or re-used during a project's lifetime. Automated solutions and workflows that connect DMPs with the actual data and other contextual information (e.g., publications, fundings) are missing from the landscape. DMPs being submitted as deliverables also limit their findability. In an open and FAIR-enabling research ecosystem information linking between research processes and research outputs is essential. ARGOS tool for FAIR data management contributes to the OpenAIRE Research Graph (RG) and utilises its underlying services and trusted sources to progressively automate validation and automations of Research Data Management (RDM) practices.
Results: A comparative analysis was conducted between the data models of ARGOS and OpenAIRE Research Graph against the DMP Common Standard. Following this, we extended ARGOS with export format converters and semantic tagging, and the OpenAIRE RG with a DMP entity and semantics between existing entities and relationships. This enabled the integration of ARGOS machine actionable DMPs (ma-DMPs) to the OpenAIRE OSG, enriching and exposing DMPs as FAIR outputs.
Conclusions: This paper, to our knowledge, is the first to introduce exposing ma-DMPs in OSGs and making the link between OSGs and DMPs, introducing the latter as entities in the research lifecycle. Further, it provides insight to ARGOS DMP service interoperability practices and integrations to populate the OpenAIRE Research Graph with DMP entities and relationships and strengthen both FAIRness of outputs as well as information exchange in a standard way.
Background: Biomedical computational systems benefit from ontologies and their associated mappings. Indeed, aligned ontologies in life sciences play a central role in several semantic-enabled tasks, especially in data exchange. It is crucial to maintain up-to-date alignments according to new knowledge inserted in novel ontology releases. Refining ontology mappings in place, based on adding concepts, demands further research.
Results: This article studies the mapping refinement phenomenon by proposing techniques to refine a set of established mappings based on the evolution of biomedical ontologies. In our first analysis, we investigate ways of suggesting correspondences with the new ontology version without applying a matching operation to the whole set of ontology entities. In the second analysis, the refinement technique enables deriving new mappings and updating the semantic type of the mapping beyond equivalence. Our study explores the neighborhood of concepts in the alignment process to refine mapping sets.
Conclusion: Experimental evaluations with several versions of aligned biomedical ontologies were conducted. Those experiments demonstrated the usefulness of ontology evolution changes to support the process of mapping refinement. Furthermore, using context in ontological concepts was effective in our techniques.
Background: Ontologies play a key role in the management of medical knowledge because they have the properties to support a wide range of knowledge-intensive tasks. The dynamic nature of knowledge requires frequent changes to the ontologies to keep them up-to-date. The challenge is to understand and manage these changes and their impact on depending systems well in order to handle the growing volume of data annotated with ontologies and the limited documentation describing the changes.
Methods: We present a method to detect and characterize the changes occurring between different versions of an ontology together with an ontology of changes entitled DynDiffOnto, designed according to Semantic Web best practices and FAIR principles. We further describe the implementation of the method and the evaluation of the tool with different ontologies from the biomedical domain (i.e. ICD9-CM, MeSH, NCIt, SNOMEDCT, GO, IOBC and CIDO), showing its performance in terms of time execution and capacity to classify ontological changes, compared with other state-of-the-art approaches.
Results: The experiments show a top-level performance of DynDiff for large ontologies and a good performance for smaller ones, with respect to execution time and capability to identify complex changes. In this paper, we further highlight the impact of ontology matchers on the diff computation and the possibility to parameterize the matcher in DynDiff, enabling the possibility of benefits from state-of-the-art matchers.
Conclusion: DynDiff is an efficient tool to compute differences between ontology versions and classify these differences according to DynDiffOnto concepts. This work also contributes to a better understanding of ontological changes through DynDiffOnto, which was designed to express the semantics of the changes between versions of an ontology and can be used to document the evolution of an ontology.
Background: Clinical early warning scoring systems, have improved patient outcomes in a range of specializations and global contexts. These systems are used to predict patient deterioration. A multitude of patient-level physiological decompensation data has been made available through the widespread integration of early warning scoring systems within EHRs across national and international health care organizations. These data can be used to promote secondary research. The diversity of early warning scoring systems and various EHR systems is one barrier to secondary analysis of early warning score data. Given that early warning score parameters are varied, this makes it difficult to query across providers and EHR systems. Moreover, mapping and merging the parameters is challenging. We develop and validate the Early Warning System Scores Ontology (EWSSO), representing three commonly used early warning scores: the National Early Warning Score (NEWS), the six-item modified Early Warning Score (MEWS), and the quick Sequential Organ Failure Assessment (qSOFA) to overcome these problems.
Methods: We apply the Software Development Lifecycle Framework-conceived by Winston Boyce in 1970-to model the activities involved in organizing, producing, and evaluating the EWSSO. We also follow OBO Foundry Principles and the principles of best practice for domain ontology design, terms, definitions, and classifications to meet BFO requirements for ontology building.
Results: We developed twenty-nine new classes, reused four classes and four object properties to create the EWSSO. When we queried the data our ontology-based process could differentiate between necessary and unnecessary features for score calculation 100% of the time. Further, our process applied the proper temperature conversions for the early warning score calculator 100% of the time.
Conclusions: Using synthetic datasets, we demonstrate the EWSSO can be used to generate and query health system data on vital signs and provide input to calculate the NEWS, six-item MEWS, and qSOFA. Future work includes extending the EWSSO by introducing additional early warning scores for adult and pediatric patient populations and creating patient profiles that contain clinical, demographic, and outcomes data regarding the patient.
Current animal protection laws require replacement of animal experiments with alternative methods, whenever such methods are suitable to reach the intended scientific objective. However, searching for alternative methods in the scientific literature is a time-consuming task that requires careful screening of an enormously large number of experimental biomedical publications. The identification of potentially relevant methods, e.g. organ or cell culture models, or computer simulations, can be supported with text mining tools specifically built for this purpose. Such tools are trained (or fine tuned) on relevant data sets labeled by human experts. We developed the GoldHamster corpus, composed of 1,600 PubMed (Medline) articles (titles and abstracts), in which we manually identified the used experimental model according to a set of eight labels, namely: "in vivo", "organs", "primary cells", "immortal cell lines", "invertebrates", "humans", "in silico" and "other" (models). We recruited 13 annotators with expertise in the biomedical domain and assigned each article to two individuals. Four additional rounds of annotation aimed at improving the quality of the annotations with disagreements in the first round. Furthermore, we conducted various machine learning experiments based on supervised learning to evaluate the corpus for our classification task. We obtained more than 7,000 document-level annotations for the above labels. After the first round of annotation, the inter-annotator agreement (kappa coefficient) varied among labels, and ranged from 0.42 (for "others") to 0.82 (for "invertebrates"), with an overall score of 0.62. All disagreements were resolved in the subsequent rounds of annotation. The best-performing machine learning experiment used the PubMedBERT pre-trained model with fine-tuning to our corpus, which gained an overall f-score of 0.83. We obtained a corpus with high agreement for all labels, and our evaluation demonstrated that our corpus is suitable for training reliable predictive models for automatic classification of biomedical literature according to the used experimental models. Our SMAFIRA - "Smart feature-based interactive" - search tool ( https://smafira.bf3r.de ) will employ this classifier for supporting the retrieval of alternative methods to animal experiments. The corpus is available for download ( https://doi.org/10.5281/zenodo.7152295 ), as well as the source code ( https://github.com/mariananeves/goldhamster ) and the model ( https://huggingface.co/SMAFIRA/goldhamster ).
Background: Predicting gene-disease associations typically requires exploring diverse sources of information as well as sophisticated computational approaches. Knowledge graph embeddings can help tackle these challenges by creating representations of genes and diseases based on the scientific knowledge described in ontologies, which can then be explored by machine learning algorithms. However, state-of-the-art knowledge graph embeddings are produced over a single ontology or multiple but disconnected ones, ignoring the impact that considering multiple interconnected domains can have on complex tasks such as gene-disease association prediction.
Results: We propose a novel approach to predict gene-disease associations using rich semantic representations based on knowledge graph embeddings over multiple ontologies linked by logical definitions and compound ontology mappings. The experiments showed that considering richer knowledge graphs significantly improves gene-disease prediction and that different knowledge graph embeddings methods benefit more from distinct types of semantic richness.
Conclusions: This work demonstrated the potential for knowledge graph embeddings across multiple and interconnected biomedical ontologies to support gene-disease prediction. It also paved the way for considering other ontologies or tackling other tasks where multiple perspectives over the data can be beneficial. All software and data are freely available.
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