IMGT/mAb-KG: the knowledge graph for therapeutic monoclonal antibodies.

Introduction: Therapeutic monoclonal antibodies (mAbs) have demonstrated promising outcomes in diverse clinical indications, including but not limited to graft rejection, cancer, and autoimmune diseases lately.Recognizing the crucial need for the scientific community to quickly and easily access dependable information on monoclonal antibodies (mAbs), IMGT®, the international ImMunoGeneTics information system®, provides a unique and invaluable resource: IMGT/mAb-DB, a comprehensive database of therapeutic mAbs, accessible via a user-friendly web interface. However, this approach restricts more sophisticated queries and segregates information from other databases. Methods: To connect IMGT/mAb-DB with the rest of the IMGT databases, we created IMGT/mAb-KG, a knowledge graph for therapeutic monoclonal antibodies connected to IMGT structures and genomics databases. IMGT/mAb-KG is developed using the most effective methodologies and standards of semantic web and acquires data from IMGT/mAb-DB. Concerning interoperability, IMGT/mAb-KG reuses terms from biomedical resources and is connected to related resources. Results and discussion: In February 2024, IMGT/mAb-KG, encompassing a total of 139,629 triplets, provides access to 1,489 mAbs, approximately 500 targets, and over 500 clinical indications. It offers detailed insights into the mechanisms of action of mAbs, their construction, and their various products and associated studies. Linked to other resources such as Thera-SAbDab (Therapeutic Structural Antibody Database), PharmGKB (a comprehensive resource curating knowledge on the impact of genetic variation on drug response), PubMed, and HGNC (HUGO Gene Nomenclature Committee), IMGT/mAb-KG is an essential resource for mAb development. A user-friendly web interface facilitates the exploration and analyse of the content of IMGT/mAb-KG.

An automated information extraction system from the knowledge graph based annual financial reports.

This article presents a semantic web-based solution for extracting the relevant information automatically from the annual financial reports of the banks/financial institutions and presenting this information in a queryable form through a knowledge graph. The information in these reports is significantly desired by various stakeholders for making key investment decisions. However, this information is available in an unstructured format making it much more complex and challenging to understand and query manually or even through digital systems. Another challenge that makes the understanding of information more complex is the variation of terminologies among financial reports of different banks or financial institutions. The solution presented in this article signifies an ontological approach to solving the standardization problems of the terminologies in this domain. It further addresses the issue of semantic differences to extract relevant data sharing common semantics. Such semantics are then incorporated by implementing their representation as a Knowledge Graph to make the information understandable and queryable. Our results highlight the usage of Knowledge Graph in search engines, recommender systems and question-answering (Q-A) systems. This financial knowledge graph can also be used to serve the task of financial storytelling. The proposed solution is implemented and tested on the datasets of various banks and the results are presented through answers to competency questions evaluated on precision and recall measures.

Ontological approach for competency-based curriculum analysis.

This article is dedicated to the development of a model for competencies within an educational program and its implementation through the use of semantic technologies. The model proposed by the authors is distinctive in that competencies are organized into a hierarchical data structure with arbitrary levels of nesting. Furthermore, the article presents an original solution for modelling the input requirements for studying a course, which is defined in the form of dependencies between the competencies generated by the course and the competencies of other courses. The outcome of this work is an ontological model of a competency-based curriculum, for which the authors have developed and implemented algorithms for data addition and retrieval, as well as for analyzing the consistency of the curriculum in terms of the input requirements for studying a discipline and the learning outcomes from previous periods. The findings presented in the article will prove to be valuable in the development of educational process management information systems and educational program constructors. They will also be instrumental in aligning diverse educational programs within the context of academic mobility.

Sharing Digital Health Educational Resources in a One-Stop Shop Portal: Tutorial on the Catalog and Index of Digital Health Teaching Resources (CIDHR) Semantic Search Engine.

BACKGROUND: Access to reliable and accurate digital health web-based resources is crucial. However, the lack of dedicated search engines for non-English languages, such as French, is a significant obstacle in this field. Thus, we developed and implemented a multilingual, multiterminology semantic search engine called Catalog and Index of Digital Health Teaching Resources (CIDHR). CIDHR is freely accessible to everyone, with a focus on French-speaking resources. CIDHR has been initiated to provide validated, high-quality content tailored to the specific needs of each user profile, be it students or professionals. OBJECTIVE: This study's primary aim in developing and implementing the CIDHR is to improve knowledge sharing and spreading in digital health and health informatics and expand the health-related educational community, primarily French speaking but also in other languages. We intend to support the continuous development of initial (ie, bachelor level), advanced (ie, master and doctoral levels), and continuing training (ie, professionals and postgraduate levels) in digital health for health and social work fields. The main objective is to describe the development and implementation of CIDHR. The hypothesis guiding this research is that controlled vocabularies dedicated to medical informatics and digital health, such as the Medical Informatics Multilingual Ontology (MIMO) and the concepts structuring the French National Referential on Digital Health (FNRDH), to index digital health teaching and learning resources, are effectively increasing the availability and accessibility of these resources to medical students and other health care professionals. METHODS: First, resource identification is processed by medical librarians from websites and scientific sources preselected and validated by domain experts and surveyed every week. Then, based on MIMO and FNRDH, the educational resources are indexed for each related knowledge domain. The same resources are also tagged with relevant academic and professional experience levels. Afterward, the indexed resources are shared with the digital health teaching and learning community. The last step consists of assessing CIDHR by obtaining informal feedback from users. RESULTS: Resource identification and evaluation processes were executed by a dedicated team of medical librarians, aiming to collect and curate an extensive collection of digital health teaching and learning resources. The resources that successfully passed the evaluation process were promptly included in CIDHR. These resources were diligently indexed (with MIMO and FNRDH) and tagged for the study field and degree level. By October 2023, a total of 371 indexed resources were available on a dedicated portal. CONCLUSIONS: CIDHR is a multilingual digital health education semantic search engine and platform that aims to increase the accessibility of educational resources to the broader health care-related community. It focuses on making resources "findable," "accessible," "interoperable," and "reusable" by using a one-stop shop portal approach. CIDHR has and will have an essential role in increasing digital health literacy.

Advanced Data Processing of Pancreatic Cancer Data Integrating Ontologies and Machine Learning Techniques to Create Holistic Health Records.

The modern healthcare landscape is overwhelmed by data derived from heterogeneous IoT data sources and Electronic Health Record (EHR) systems. Based on the advancements in data science and Machine Learning (ML), an improved ability to integrate and process the so-called primary and secondary data fosters the provision of real-time and personalized decisions. In that direction, an innovative mechanism for processing and integrating health-related data is introduced in this article. It describes the details of the mechanism and its internal subcomponents and workflows, together with the results from its utilization, validation, and evaluation in a real-world scenario. It also highlights the potential derived from the integration of primary and secondary data into Holistic Health Records (HHRs) and from the utilization of advanced ML-based and Semantic Web techniques to improve the quality, reliability, and interoperability of the examined data. The viability of this approach is evaluated through heterogeneous healthcare datasets pertaining to personalized risk identification and monitoring related to pancreatic cancer. The key outcomes and innovations of this mechanism are the introduction of the HHRs, which facilitate the capturing of all health determinants in a harmonized way, and a holistic data ingestion mechanism for advanced data processing and analysis.

Ontologies4Cat: investigating the landscape of ontologies for catalysis research data management.

As scientific digitization advances it is imperative ensuring data is Findable, Accessible, Interoperable, and Reusable (FAIR) for machine-processable data. Ontologies play a vital role in enhancing data FAIRness by explicitly representing knowledge in a machine-understandable format. Research data in catalysis research often exhibits complexity and diversity, necessitating a respectively broad collection of ontologies. While ontology portals such as EBI OLS and BioPortal aid in ontology discovery, they lack deep classification, while quality metrics for ontology reusability and domains are absent for the domain of catalysis research. Thus, this work provides an approach for systematic collection of ontology metadata with focus on the catalysis research data value chain. By classifying ontologies by subdomains of catalysis research, the approach is offering efficient comparison across ontologies. Furthermore, a workflow and codebase is presented, facilitating representation of the metadata on GitHub. Finally, a method is presented to automatically map the classes contained in the ontologies of the metadata collection against each other, providing further insights on relatedness of the ontologies listed. The presented methodology is designed for its reusability, enabling its adaptation to other ontology collections or domains of knowledge. The ontology metadata taken up for this work and the code developed and described in this work are available in a GitHub repository at: https://github.com/nfdi4cat/Ontology-Overview-of-NFDI4Cat .

A Semantic Framework to Detect Problems in Activities of Daily Living Monitored through Smart Home Sensors.

Activities of daily living (ADLs) are fundamental routine tasks that the majority of physically and mentally healthy people can independently execute. In this paper, we present a semantic framework for detecting problems in ADLs execution, monitored through smart home sensors. In the context of this work, we conducted a pilot study, gathering raw data from various sensors and devices installed in a smart home environment. The proposed framework combines multiple Semantic Web technologies (i.e., ontology, RDF, triplestore) to handle and transform these raw data into meaningful representations, forming a knowledge graph. Subsequently, SPARQL queries are used to define and construct explicit rules to detect problematic behaviors in ADL execution, a procedure that leads to generating new implicit knowledge. Finally, all available results are visualized in a clinician dashboard. The proposed framework can monitor the deterioration of ADLs performance for people across the dementia spectrum by offering a comprehensive way for clinicians to describe problematic behaviors in the everyday life of an individual.

Case-Reported Data Management Methodology Using an RDF Data Model for Building a Multicenter Clinical Registry.

In multicenter clinical research, case-reported clinical data are managed for each research project. Participating institutions manage the mapping between standardized codes and in-house codes. To use the data extracted from electronic medical records in case report forms, it is necessary to pay attention to the gap in the semantic hierarchy. Managing mapping information between in-house and standardized codes is centralized in Resource Description Framework (RDF) stores. The relationship between standardized and in-house codes is described in RDF and stored in RDF stores. RESTful APIs for accessing RDF stores in SPARQL was developed and verified. The relationship between standardized codes and in-house codes of pharmaceuticals was expressed in RDF triples. As a +result of the operational verification of the implemented APIs, it was confirmed that data management with knowledge bases expressed in RDF graphs is possible. The ability to dynamically modify mapping definitions enables flexible data management and ease of operational restrictions.

Shape Expressions (ShEx) schemas for the FHIR R5 specification.

This work continues along a visionary path of using Semantic Web standards such as RDF and ShEx to make healthcare data easier to integrate for research and leading-edge patient care. The work extends the ability to use ShEx schemas to validate FHIR RDF data, thereby enhancing the semantic web ecosystem for working with FHIR and non-FHIR data using the same ShEx validation framework. It updates FHIR's ShEx schemas to fix outstanding issues and reflect changes in the definition of FHIR RDF. In addition, it experiments with expressing FHIRPath constraints (which are not captured in the XML or JSON schemas) in ShEx schemas. These extended ShEx schemas were incorporated into the FHIR R5 specification and used to successfully validate FHIR R5 examples that are included with the FHIR specification, revealing several errors in the examples.

AIMS: An Automatic Semantic Machine Learning Microservice Framework to Support Biomedical and Bioengineering Research.

The fusion of machine learning and biomedical research offers novel ways to understand, diagnose, and treat various health conditions. However, the complexities of biomedical data, coupled with the intricate process of developing and deploying machine learning solutions, often pose significant challenges to researchers in these fields. Our pivotal achievement in this research is the introduction of the Automatic Semantic Machine Learning Microservice (AIMS) framework. AIMS addresses these challenges by automating various stages of the machine learning pipeline, with a particular emphasis on the ontology of machine learning services tailored to the biomedical domain. This ontology encompasses everything from task representation, service modeling, and knowledge acquisition to knowledge reasoning and the establishment of a self-supervised learning policy. Our framework has been crafted to prioritize model interpretability, integrate domain knowledge effortlessly, and handle biomedical data with efficiency. Additionally, AIMS boasts a distinctive feature: it leverages self-supervised knowledge learning through reinforcement learning techniques, paired with an ontology-based policy recording schema. This enables it to autonomously generate, fine-tune, and continually adapt to machine learning models, especially when faced with new tasks and data. Our work has two standout contributions demonstrating that machine learning processes in the biomedical domain can be automated, while integrating a rich domain knowledge base and providing a way for machines to have self-learning ability, ensuring they handle new tasks effectively. To showcase AIMS in action, we have highlighted its prowess in three case studies of biomedical tasks. These examples emphasize how our framework can simplify research routines, uplift the caliber of scientific exploration, and set the stage for notable advances.

Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective.

The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.

Infrastructure tools to support an effective Radiation Oncology Learning Health System.

PURPOSE: Radiation Oncology Learning Health System (RO-LHS) is a promising approach to improve the quality of care by integrating clinical, dosimetry, treatment delivery, research data in real-time. This paper describes a novel set of tools to support the development of a RO-LHS and the current challenges they can address. METHODS: We present a knowledge graph-based approach to map radiotherapy data from clinical databases to an ontology-based data repository using FAIR concepts. This strategy ensures that the data are easily discoverable, accessible, and can be used by other clinical decision support systems. It allows for visualization, presentation, and data analyses of valuable information to identify trends and patterns in patient outcomes. We designed a search engine that utilizes ontology-based keyword searching, synonym-based term matching that leverages the hierarchical nature of ontologies to retrieve patient records based on parent and children classes, connects to the Bioportal database for relevant clinical attributes retrieval. To identify similar patients, a method involving text corpus creation and vector embedding models (Word2Vec, Doc2Vec, GloVe, and FastText) are employed, using cosine similarity and distance metrics. RESULTS: The data pipeline and tool were tested with 1660 patient clinical and dosimetry records resulting in 504 180 RDF (Resource Description Framework) tuples and visualized data relationships using graph-based representations. Patient similarity analysis using embedding models showed that the Word2Vec model had the highest mean cosine similarity, while the GloVe model exhibited more compact embeddings with lower Euclidean and Manhattan distances. CONCLUSIONS: The framework and tools described support the development of a RO-LHS. By integrating diverse data sources and facilitating data discovery and analysis, they contribute to continuous learning and improvement in patient care. The tools enhance the quality of care by enabling the identification of cohorts, clinical decision support, and the development of clinical studies and machine learning programs in radiation oncology.

Cultural gems linked open data: Mapping culture and intangible heritage in European cities.

The recovery and resilience of the cultural and creative sectors after the COVID-19 pandemic is a current topic with priority for the European Commission. Cultural gems is a crowdsourced web platform managed by the Joint Research Centre of the European Commission aimed at creating community-led maps as well as a common repository for cultural and creative places across European cities and towns. More than 130,000 physical locations and online cultural activities in more than 300 European cities and towns are currently tracked by the application. The main objective of Cultural gems consists in raising a holistic vision of European culture, reinforcing a sense of belonging to a common European cultural space. This data article describes the ontology developed for Cultural gems, adopted to represent the domain of knowledge of the application by means of FAIR (Findable, Accessible, Interoperable, Reusable) principles and following the paradigms of Linked Open Data (LOD). We provide an overview of this dataset, and describe the ontology model, along with the services used to access and consume the data.

Investigating the potential of the semantic web for education: Exploring Wikidata as a learning platform.

Wikidata is a free, multilingual, open knowledge-base that stores structured, linked data. It has grown rapidly and as of December 2022 contains over 100 million items and millions of statements, making it the largest semantic knowledge-base in existence. Changing the interaction between people and knowledge, Wikidata offers various learning opportunities, leading to new applications in sciences, technology and cultures. These learning opportunities stem in part from the ability to query this data and ask questions that were difficult to answer in the past. They also stem from the ability to visualize query results, for example on a timeline or a map, which, in turn, helps users make sense of the data and draw additional insights from it. Research on the semantic web as learning platform and on Wikidata in the context of education is almost non-existent, and we are just beginning to understand how to utilize it for educational purposes. This research investigates the Semantic Web as a learning platform, focusing on Wikidata as a prime example. To that end, a methodology of multiple case studies was adopted, demonstrating Wikidata uses by early adopters. Seven semi-structured, in-depth interviews were conducted, out of which 10 distinct projects were extracted. A thematic analysis approach was deployed, revealing eight main uses, as well as benefits and challenges to engaging with the platform. The results shed light on Wikidata's potential as a lifelong learning process, enabling opportunities for improved Data Literacy and a worldwide social impact.

Usability Testing of a Multi-Level Modeling Framework for Just-in-Time Adaptive Interventions (JITAIs) in Mobile Health.

The JITAI is an intervention design to support health behavior change. We designed a multi-level modeling framework for JITAIs and developed a proof-of-concept prototype (POC). This study aimed at investigating the usability of the POC by conducting two usability tests with students. We assessed the usability and the students' workload and success in completing tasks. In the second usability test, however, they faced difficulties in completing the tasks. We will work on hiding the complexity of the framework as well as improving the frontend and the instructions.

Integrating collective know-how for multicriteria decision support in agrifood chains-application to cheesemaking.

Agrifood chain processes are based on a multitude of knowledge, know-how and experiences forged over time. This collective expertise must be shared to improve food quality. Here we test the hypothesis that it is possible to design and implement a comprehensive methodology to create a knowledge base integrating collective expertise, while also using it to recommend technical actions required to improve food quality. The method used to test this hypothesis consists firstly in listing the functional specifications that were defined in collaboration with several partners (technical centers, vocational training schools, producers) over the course of several projects carried out in recent years. Secondly, we propose an innovative core ontology that utilizes the international languages of the Semantic Web to effectively represent knowledge in the form of decision trees. These decision trees will depict potential causal relationships between situations of interest and provide recommendations for managing them through technological actions, as well as a collective assessment of the efficiency of those actions. We show how mind map files created using mind-mapping tools are automatically translated into an RDF knowledge base using the core ontological model. Thirdly, a model to aggregate individual assessments provided by technicians and associated with technical action recommendations is proposed and evaluated. Finally, a multicriteria decision-support system (MCDSS) using the knowledge base is presented. It consists of an explanatory view allowing navigation in a decision tree and an action view for multicriteria filtering and possible side effect identification. The different types of MCDSS-delivered answers to a query expressed in the action view are explained. The MCDSS graphical user interface is presented through a real-use case. Experimental assessments have been performed and confirm that tested hypothesis is relevant.

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations.

BACKGROUND: Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions. IMDs often present with non-specific symptoms, a lack of a clear genotype-phenotype correlation, and de novo mutations, complicating diagnosis. Furthermore, products of one metabolic conversion can be the substrate of another pathway obscuring biomarker identification and causing overlapping biomarkers for different disorders. Visualization of the connections between metabolic biomarkers and the enzymes involved might aid in the diagnostic process. The goal of this study was to provide a proof-of-concept framework for integrating knowledge of metabolic interactions with real-life patient data before scaling up this approach. This framework was tested on two groups of well-studied and related metabolic pathways (the urea cycle and pyrimidine de-novo synthesis). The lessons learned from our approach will help to scale up the framework and support the diagnosis of other less-understood IMDs. METHODS: Our framework integrates literature and expert knowledge into machine-readable pathway models, including relevant urine biomarkers and their interactions. The clinical data of 16 previously diagnosed patients with various pyrimidine and urea cycle disorders were visualized on the top 3 relevant pathways. Two expert laboratory scientists evaluated the resulting visualizations to derive a diagnosis. RESULTS: The proof-of-concept platform resulted in varying numbers of relevant biomarkers (five to 48), pathways, and pathway interactions for each patient. The two experts reached the same conclusions for all samples with our proposed framework as with the current metabolic diagnostic pipeline. For nine patient samples, the diagnosis was made without knowledge about clinical symptoms or sex. For the remaining seven cases, four interpretations pointed in the direction of a subset of disorders, while three cases were found to be undiagnosable with the available data. Diagnosing these patients would require additional testing besides biochemical analysis. CONCLUSION: The presented framework shows how metabolic interaction knowledge can be integrated with clinical data in one visualization, which can be relevant for future analysis of difficult patient cases and untargeted metabolomics data. Several challenges were identified during the development of this framework, which should be resolved before this approach can be scaled up and implemented to support the diagnosis of other (less understood) IMDs. The framework could be extended with other OMICS data (e.g. genomics, transcriptomics), and phenotypic data, as well as linked to other knowledge captured as Linked Open Data.

SALON ontology for the formal description of sequence alignments.

BACKGROUND: Information provided by high-throughput sequencing platforms allows the collection of content-rich data about biological sequences and their context. Sequence alignment is a bioinformatics approach to identifying regions of similarity in DNA, RNA, or protein sequences. However, there is no consensus about the specific common terminology and representation for sequence alignments. Thus, automatically linking the wide existing knowledge about the sequences with the alignments is challenging. RESULTS: The Sequence Alignment Ontology (SALON) defines a helpful vocabulary for representing and semantically annotating pairwise and multiple sequence alignments. SALON is an OWL 2 ontology that supports automated reasoning for alignments validation and retrieving complementary information from public databases under the Open Linked Data approach. This will reduce the effort needed by scientists to interpret the sequence alignment results. CONCLUSIONS: SALON defines a full range of controlled terminology in the domain of sequence alignments. It can be used as a mediated schema to integrate data from different sources and validate acquired knowledge.

Information extraction pipelines for knowledge graphs.

In the last decade, a large number of knowledge graph (KG) completion approaches were proposed. Albeit effective, these efforts are disjoint, and their collective strengths and weaknesses in effective KG completion have not been studied in the literature. We extend Plumber, a framework that brings together the research community's disjoint efforts on KG completion. We include more components into the architecture of Plumber  to comprise 40 reusable components for various KG completion subtasks, such as coreference resolution, entity linking, and relation extraction. Using these components, Plumber dynamically generates suitable knowledge extraction pipelines and offers overall 432 distinct pipelines. We study the optimization problem of choosing optimal pipelines based on input sentences. To do so, we train a transformer-based classification model that extracts contextual embeddings from the input and finds an appropriate pipeline. We study the efficacy of Plumber for extracting the KG triples using standard datasets over three KGs: DBpedia, Wikidata, and Open Research Knowledge Graph. Our results demonstrate the effectiveness of Plumber in dynamically generating KG completion pipelines, outperforming all baselines agnostic of the underlying KG. Furthermore, we provide an analysis of collective failure cases, study the similarities and synergies among integrated components and discuss their limitations.