Advancing translational research with the Semantic Web

<p>Abstract</p> <p>Background</p> <p>A fundamental goal of the U.S. National Institute of Health (NIH) "Roadmap" is to strengthen <it>Translational Research</it>, defined as the movement of discoveries in basic research to application at the clinical level. A significant barrier to translational research is the lack of uniformly structured data across related biomedical domains. The Semantic Web is an extension of the current Web that enables navigation and meaningful use of digital resources by automatic processes. It is based on common formats that support aggregation and integration of data drawn from diverse sources. A variety of technologies have been built on this foundation that, together, support identifying, representing, and reasoning across a wide range of biomedical data. The Semantic Web Health Care and Life Sciences Interest Group (HCLSIG), set up within the framework of the World Wide Web Consortium, was launched to explore the application of these technologies in a variety of areas. Subgroups focus on making biomedical data available in RDF, working with biomedical ontologies, prototyping clinical decision support systems, working on drug safety and efficacy communication, and supporting disease researchers navigating and annotating the large amount of potentially relevant literature.</p> <p>Results</p> <p>We present a scenario that shows the value of the information environment the Semantic Web can support for aiding neuroscience researchers. We then report on several projects by members of the HCLSIG, in the process illustrating the range of Semantic Web technologies that have applications in areas of biomedicine.</p> <p>Conclusion</p> <p>Semantic Web technologies present both promise and challenges. Current tools and standards are already adequate to implement components of the bench-to-bedside vision. On the other hand, these technologies are young. Gaps in standards and implementations still exist and adoption is limited by typical problems with early technology, such as the need for a critical mass of practitioners and installed base, and growing pains as the technology is scaled up. Still, the potential of interoperable knowledge sources for biomedicine, at the scale of the World Wide Web, merits continued work.</p

The role of ontologies in biological and biomedical research: a functional perspective.

Ontologies are widely used in biological and biomedical research. Their success lies in their combination of four main features present in almost all ontologies: provision of standard identifiers for classes and relations that represent the phenomena within a domain; provision of a vocabulary for a domain; provision of metadata that describes the intended meaning of the classes and relations in ontologies; and the provision of machine-readable axioms and definitions that enable computational access to some aspects of the meaning of classes and relations. While each of these features enables applications that facilitate data integration, data access and analysis, a great potential lies in the possibility of combining these four features to support integrative analysis and interpretation of multimodal data. Here, we provide a functional perspective on ontologies in biology and biomedicine, focusing on what ontologies can do and describing how they can be used in support of integrative research. We also outline perspectives for using ontologies in data-driven science, in particular their application in structured data mining and machine learning applications.This is the final version of the article. It first appeared from Oxford University Press via http://dx.doi.org/10.1093/bib/bbv01

A Simple Standard for Sharing Ontological Mappings (SSSOM).

Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Or are they associated in some other way? Such relationships between the mapped terms are often not documented, which leads to incorrect assumptions and makes them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Furthermore, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. We have developed the Simple Standard for Sharing Ontological Mappings (SSSOM) which addresses these problems by: (i) Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. (ii) Defining an easy-to-use simple table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data principles. (iii) Implementing open and community-driven collaborative workflows that are designed to evolve the standard continuously to address changing requirements and mapping practices. (iv) Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases in detail and survey some of the existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable and Reusable (FAIR). The SSSOM specification can be found at http://w3id.org/sssom/spec. Database URL: http://w3id.org/sssom/spec

Developing Metadata Categories as a Strategy to Mobilize Computable Biomedical Knowledge

A work by a group of volunteer members drawn from the Mobilizing Computable Biomedical Knowledge community's Standards Workgroup. See mobilizecbk.org for more information about this community and workgroup.Computable biomedical knowledge artifacts (CBKs) are digital objects or entities representing biomedical knowledge as machine-independent data structures that can be parsed and processed by different information systems. The breadth of content represented in CBKs spans all biomedical knowledge related to human health and so it includes knowledge about molecules, cells, organs, individual people, human populations, and the environment. CBKs vary in their scope, purpose, and audience. Some CBKs support biomedical research. Other CBKs help improve health outcomes by enabling clinical decision support, health education, health promotion, and population health analytics. In some instances, CBKs have multiple uses that span research, education, clinical care, or population health. As the number of CBKs grows large, producers must describe them with structured, searchable metadata so that consumers can find, deploy, and use them properly. This report delineates categories of metadata for describing CBKs sufficiently to enable CBKs to be mobilized for various purposes.https://deepblue.lib.umich.edu/bitstream/2027.42/155655/1/MCBK.Metadata.Paper.June2020.f.pdfDescription of MCBK.Metadata.Paper.June2020.f.pdf : MCBK 2020 Virtual Meeting version of Standards Workgroup's Working Paper on CBK Metadat

Intégration de ressources en recherche translationnelle : une approche unificatrice en support des systèmes de santé "apprenants"

Learning health systems (LHS) are gradually emerging and propose a complimentary approach to translational research challenges by implementing close coupling of health care delivery, research and knowledge translation. To support coherent knowledge sharing, the system needs to rely on an integrated and efficient data integration platform. The framework and its theoretical foundations presented here aim at addressing this challenge. Data integration approaches are analysed in light of the requirements derived from LHS activities and data mediation emerges as the one most adapted for a LHS. The semantics of clinical data found in biomedical sources can only be fully derived by taking into account, not only information from the structural models (field X of table Y), but also terminological information (e.g. International Classification of Disease 10th revision) used to encode facts. The unified framework proposed here takes this into account. The platform has been implemented and tested in context of the TRANSFoRm endeavour, a European project funded by the European commission. It aims at developing a LHS including clinical activities in primary care. The mediation model developed for the TRANSFoRm project, the Clinical Data Integration Model, is presented and discussed. Results from TRANSFoRm use-cases are presented. They illustrate how a unified data sharing platform can support and enhance prospective research activities in context of a LHS. In the end, the unified mediation framework presented here allows sufficient expressiveness for the TRANSFoRm needs. It is flexible, modular and the CDIM mediation model supports the requirements of a primary care LHS.Les systèmes de santé "apprenants" (SSA) présentent une approche complémentaire et émergente aux problèmes de la recherche translationnelle en couplant de près les soins de santé, la recherche et le transfert de connaissances. Afin de permettre un flot d’informations cohérent et optimisé, le système doit se doter d’une plateforme intégrée de partage de données. Le travail présenté ici vise à proposer une approche de partage de données unifiée pour les SSA. Les grandes approches d’intégration de données sont analysées en fonction du SSA. La sémantique des informations cliniques disponibles dans les sources biomédicales est la résultante des connaissances des modèles structurelles des sources mais aussi des connaissances des modèles terminologiques utilisés pour coder l’information. Les mécanismes de la plateforme unifiée qui prennent en compte cette interdépendance sont décrits. La plateforme a été implémentée et testée dans le cadre du projet TRANSFoRm, un projet européen qui vise à développer un SSA. L’instanciation du modèle de médiation pour le projet TRANSFoRm, le Clinical Data Integration Model est analysée. Sont aussi présentés ici les résultats d’un des cas d’utilisation de TRANSFoRm pour supporter la recherche afin de donner un aperçu concret de l’impact de la plateforme sur le fonctionnement du SSA. Au final, la plateforme unifiée d’intégration proposée ici permet un niveau d’expressivité suffisant pour les besoins de TRANSFoRm. Le système est flexible et modulaire et le modèle de médiation CDIM couvre les besoins exprimés pour le support des activités d’un SSA comme TRANSFoRm

Obo foundry food ontology interconnectivity

Since its creation in 2016, the FoodOn ontology has become an interconnected partner in various academic and government inter-agency ontology work spanning agricultural and public health domains. This paper examines existing and potential data interoperability capabilities arising from FoodOn and partner food-related ontologies belonging to the encyclopedic Open Biological and Biomedical Ontology Foundry (OBO) vocabulary platform, and how research organizations and industry might utilize them for their own operations or for data exchange. Projects are seeking standardized vocabulary across all direct food supply activities ranging from agricultural production, harvesting, preparation, food processing, marketing, distribution and consumption, as well as indirectly, within health, economic, food security and sustainability analysis and reporting tools. To satisfy this demand and provide data requires establishing domain specific ontologies whose curators coordinate closely to produce recommended patterns for food system vocabulary

Development and Evaluation of an Ontology-Based Quality Metrics Extraction System

The Institute of Medicine reports a growing demand in recent years for quality improvement within the healthcare industry. In response, numerous organizations have been involved in the development and reporting of quality measurement metrics. However, disparate data models from such organizations shift the burden of accurate and reliable metrics extraction and reporting to healthcare providers. Furthermore, manual abstraction of quality metrics and diverse implementation of Electronic Health Record (EHR) systems deepens the complexity of consistent, valid, explicit, and comparable quality measurement reporting within healthcare provider organizations. The main objective of this research is to evaluate an ontology-based information extraction framework to utilize unstructured clinical text for defining and reporting quality of care metrics that are interpretable and comparable across different healthcare institutions. All clinical transcribed notes (48,835) from 2,085 patients who had undergone surgery in 2011 at MD Anderson Cancer Center were extracted from their EMR system and pre- processed for identification of section headers. Subsequently, all notes were analyzed by MetaMap v2012 and one XML file was generated per each note. XML outputs were converted into Resource Description Framework (RDF) format. We also developed three ontologies: section header ontology from extracted section headers using RDF standard, concept ontology comprising entities representing five quality metrics from SNOMED (Diabetes, Hypertension, Cardiac Surgery, Transient Ischemic Attack, CNS tumor), and a clinical note ontology that represented clinical note elements and their relationships. All ontologies (Web Ontology Language format) and patient notes (RDFs) were imported into a triple store (AllegroGraph?) as classes and instances respectively. SPARQL information retrieval protocol was used for reporting extracted concepts under four settings: base Natural Language Processing (NLP) output, inclusion of concept ontology, exclusion of negated concepts, and inclusion of section header ontology. Existing manual abstraction data from surgical clinical reviewers, on the same set of patients and documents, was considered as the gold standard. Micro-average results of statistical agreement tests on the base NLP output showed an increase from 59%, 81%, and 68% to 74%, 91%, and 82% (Precision, Recall, F-Measure) respectively after incremental addition of ontology layers. Our study introduced a framework that may contribute to advances in “complementary” components for the existing information extraction systems. The application of an ontology-based approach for natural language processing in our study has provided mechanisms for increasing the performance of such tools. The pivot point for extracting more meaningful quality metrics from clinical narratives is the abstraction of contextual semantics hidden in the notes. We have defined some of these semantics and quantified them in multiple complementary layers in order to demonstrate the importance and applicability of an ontology-based approach in quality metric extraction. The application of such ontology layers introduces powerful new ways of querying context dependent entities from clinical texts. Rigorous evaluation is still necessary to ensure the quality of these “complementary” NLP systems. Moreover, research is needed for creating and updating evaluation guidelines and criteria for assessment of performance and efficiency of ontology-based information extraction in healthcare and to provide a consistent baseline for the purpose of comparing alternative approaches

Improving the Quality and Utility of Electronic Health Record Data through Ontologies

The translational research community, in general, and the Clinical and Translational Science Awards (CTSA) community, in particular, share the vision of repurposing EHRs for research that will improve the quality of clinical practice. Many members of these communities are also aware that electronic health records (EHRs) suffer limitations of data becoming poorly structured, biased, and unusable out of original context. This creates obstacles to the continuity of care, utility, quality improvement, and translational research. Analogous limitations to sharing objective data in other areas of the natural sciences have been successfully overcome by developing and using common ontologies. This White Paper presents the authors’ rationale for the use of ontologies with computable semantics for the improvement of clinical data quality and EHR usability formulated for researchers with a stake in clinical and translational science and who are advocates for the use of information technology in medicine but at the same time are concerned by current major shortfalls. This White Paper outlines pitfalls, opportunities, and solutions and recommends increased investment in research and development of ontologies with computable semantics for a new generation of EHRs

A Simple Standard for Sharing Ontological Mappings (SSSOM)

Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Or are they associated in some other way? Such relationships between the mapped terms are often not documented, which leads to incorrect assumptions and makes them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Furthermore, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. We have developed the Simple Standard for Sharing Ontological Mappings (SSSOM) which addresses these problems by: (i) Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. (ii) Defining an easy-to-use simple table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data principles. (iii) Implementing open and community-driven collaborative workflows that are designed to evolve the standard continuously to address changing requirements and mapping practices. (iv) Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases in detail and survey some of the existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable and Reusable (FAIR). The SSSOM specification can be found at http://w3id.org/sssom/spec

The Rationale of PROV

The PROV family of documents are the final output of the World Wide Web Consortium Provenance Working Group, chartered to specify a representation of provenance to facilitate its exchange over the Web. This article reflects upon the key requirements, guiding principles, and design decisions that influenced the PROV family of documents. A broad range of requirements were found, relating to the key concepts necessary for describing provenance, such as resources, activities, agents and events, and to balancing prov’s ease of use with the facility to check its validity. By this retrospective requirement analysis, the article aims to provide some insights into how prov turned out as it did and why. Benefits of this insight include better inter-operability, a roadmap for alternate investigations and improvements, and solid foundations for future standardization activities