Dynamic sub-ontology evolution for traditional Chinese medicine web ontology

As a form of important domain knowledge, large-scale ontologies play a critical role in building a large variety of knowledge-based systems. To overcome the problem of semantic heterogeneity and encode domain knowledge in reusable format, a large-scale and well-defined ontology is also required in the traditional Chinese medicine discipline. We argue that to meet the on-demand and scalability requirement ontology-based systems should go beyond the use of static ontology and be able to self-evolve and specialize for the domain knowledge they possess. In particular, we refer to the context-specific portions from large-scale ontologies like the traditional Chinese medicine ontology as sub-ontologies. Ontology-based systems are able to reuse sub-ontologies in local repository called ontology cache. In order to improve the overall performance of ontology cache, we propose to evolve sub-ontologies in ontology cache to optimize the knowledge structure of sub-ontologies. Moreover, we present the sub-ontology evolution approach based on a genetic algorithm for reusing large-scale ontologies. We evaluate the proposed evolution approach with the traditional Chinese medicine ontology and obtain promising results.     

Biomedical Ontologies to Guide AI Development in Radiology

The advent of deep learning has engendered renewed and rapidly growing interest in artificial intelligence (AI) in radiology to analyze images, manipulate textual reports, and plan interventions. Applications of deep learning and other AI approaches must be guided by sound medical knowledge to assure that they are developed successfully and that they address important problems in biomedical research or patient care. To date, AI has been applied to a limited number of real-world radiology applications. As AI systems become more pervasive and are applied more broadly, they will benefit from medical knowledge on a larger scale, such as that available through computer-based approaches. A key approach to represent computer-based knowledge in a particular domain is an ontology. As defined in informatics, an ontology defines a domain’s terms through their relationships with other terms in the ontology. Those relationships, then, define the terms’ semantics, or “meaning.” Biomedical ontologies commonly define the relationships between terms and more general terms, and can express causal, part-whole, and anatomic relationships. Ontologies express knowledge in a form that is both human-readable and machine-computable. Some ontologies, such as RSNA’s RadLex radiology lexicon, have been applied to applications in clinical practice and research, and may be familiar to many radiologists. This article describes how ontologies can support research and guide emerging applications of AI in radiology, including natural language processing, image–based machine learning, radiomics, and planning.

     

Desiderata for domain reference ontologies in biomedicine

Domain reference ontologies represent knowledge about a particular part of the world in a way that is independent from specific objectives, through a theory of the domain. An example of reference ontology in biomedical informatics is the Foundational Model of Anatomy (FMA), an ontology of anatomy that covers the entire range of macroscopic, microscopic, and subcellular anatomy. The purpose of this paper is to explore how two domain reference ontologies--the FMA and the Chemical Entities of Biological Interest (ChEBI) ontology, can be used (i) to align existing terminologies, (ii) to infer new knowledge in ontologies of more complex entities, and (iii) to manage and help reasoning about individual data. We analyze those kinds of usages of these two domain reference ontologies and suggest desiderata for reference ontologies in biomedicine. While a number of groups and communities have investigated general requirements for ontology design and desiderata for controlled medical vocabularies, we are focusing on application purposes. We suggest five desirable characteristics for reference ontologies: good lexical coverage, good coverage in terms of relations, compatibility with standards, modularity, and ability to represent variation in reality.     

Summarizing and visualizing structural changes during the evolution of biomedical ontologies using a Diff Abstraction Network

Biomedical ontologies are a critical component in biomedical research and practice. As an ontology evolves, its structure and content change in response to additions, deletions and updates. When editing a biomedical ontology, small local updates may affect large portions of the ontology, leading to unintended and potentially erroneous changes. Such unwanted side effects often go unnoticed since biomedical ontologies are large and complex knowledge structures. Abstraction networks, which provide compact summaries of an ontology’s content and structure, have been used to uncover structural irregularities, inconsistencies and errors in ontologies. In this paper, we introduce Diff Abstraction Networks (“Diff AbNs”), compact networks that summarize and visualize global structural changes due to ontology editing operations that result in a new ontology release. A Diff AbN can be used to support curators in identifying unintended and unwanted ontology changes. The derivation of two Diff AbNs, the Diff Area Taxonomy and the Diff Partial-area Taxonomy, is explained and Diff Partial-area Taxonomies are derived and analyzed for the Ontology of Clinical Research, Sleep Domain Ontology, and eagle-i Research Resource Ontology. Diff Taxonomy usage for identifying unintended erroneous consequences of quality assurance and ontology merging are demonstrated.     

An empirical analysis of ontology reuse in BioPortal

Biomedical ontologies often reuse content (i.e., classes and properties) from other ontologies. Content reuse enables a consistent representation of a domain and reusing content can save an ontology author significant time and effort. Prior studies have investigated the existence of reused terms among the ontologies in the NCBO BioPortal, but as of yet there has not been a study investigating how the ontologies in BioPortal utilize reused content in the modeling of their own content. In this study we investigate how 355 ontologies hosted in the NCBO BioPortal reuse content from other ontologies for the purposes of creating new ontology content. We identified 197 ontologies that reuse content. Among these ontologies, 108 utilize reused classes in the modeling of their own classes and 116 utilize reused properties in class restrictions. Current utilization of reuse and quality issues related to reuse are discussed.     

COnto–Diff: generation of complex evolution mappings for life science ontologies

Life science ontologies evolve frequently to meet new requirements or to better reflect the current domain knowledge. The development and adaptation of large and complex ontologies is typically performed collaboratively by several curators. To effectively manage the evolution of ontologies it is essential to identify the difference (Diff) between ontology versions. Such a Diff supports the synchronization of changes in collaborative curation, the adaptation of dependent data such as annotations, and ontology version management. We propose a novel approach COnto–Diff to determine an expressive and invertible diff evolution mapping between given versions of an ontology. Our approach first matches the ontology versions and determines an initial evolution mapping consisting of basic change operations (insert/update/delete). To semantically enrich the evolution mapping we adopt a rule-based approach to transform the basic change operations into a smaller set of more complex change operations, such as merge, split, or changes of entire subgraphs. The proposed algorithm is customizable in different ways to meet the requirements of diverse ontologies and application scenarios. We evaluate the proposed approach for large life science ontologies including the Gene Ontology and the NCI Thesaurus and compare it with PromptDiff. We further show how the Diff results can be used for version management and annotation migration in collaborative curation.     

Text-mining approach to evaluate terms for ontology development

Developing ontologies to account for the complexity of biological systems requires the time intensive collaboration of many participants with expertise in various fields. While each participant may contribute to construct a list of terms for ontology development, no objective methods have been developed to evaluate how relevant each of these terms is to the intended domain. We have developed a computational method based on a hypergeometric enrichment test to evaluate the relevance of such terms to the intended domain. The proposed method uses the PubMed literature database to evaluate whether each potential term for ontology development is overrepresented in the abstracts that discuss the particular domain. This evaluation provides an objective approach to assess terms and prioritize them for ontology development.     

Semantic enrichment for medical ontologies

The Unified Medical Language System (UMLS) contains two separate but interconnected knowledge structures, the Semantic Network (upper level) and the Metathesaurus (lower level). In this paper, we have attempted to work out better how the use of such a two-level structure in the medical field has led to notable advances in terminologies and ontologies. However, most ontologies and terminologies do not have such a two-level structure. Therefore, we present a method, called semantic enrichment, which generates a two-level ontology from a given one-level terminology and an auxiliary two-level ontology. During semantic enrichment, concepts of the one-level terminology are assigned to semantic types, which are the building blocks of the upper level of the auxiliary two-level ontology. The result of this process is the desired new two-level ontology. We discuss semantic enrichment of two example terminologies and how we approach the implementation of semantic enrichment in the medical domain. This implementation performs a major part of the semantic enrichment process with the medical terminologies, with difficult cases left to a human expert.     

A multi-ontology approach to annotate scientific documents based on a modularization technique

Scientific text annotation has become an important task for biomedical scientists. Nowadays, there is an increasing need for the development of intelligent systems to support new scientific findings. Public databases available on the Web provide useful data, but much more useful information is only accessible in scientific texts. Text annotation may help as it relies on the use of ontologies to maintain annotations based on a uniform vocabulary. However, it is difficult to use an ontology, especially those that cover a large domain. In addition, since scientific texts explore multiple domains, which are covered by distinct ontologies, it becomes even more difficult to deal with such task. Moreover, there are dozens of ontologies in the biomedical area, and they are usually big in terms of the number of concepts. It is in this context that ontology modularization can be useful. This work presents an approach to annotate scientific documents using modules of different ontologies, which are built according to a module extraction technique. The main idea is to analyze a set of single-ontology annotations on a text to find out the user interests. Based on these annotations a set of modules are extracted from a set of distinct ontologies, and are made available for the user, for complementary annotation. The reduced size and focus of the extracted modules tend to facilitate the annotation task. An experiment was conducted to evaluate this approach, with the participation of a bioinformatician specialist of the Laboratory of Peptides and Proteins of the IOC/Fiocruz, who was interested in discovering new drug targets aiming at the combat of tropical diseases.     

Behavior change interventions: the potential of ontologies for advancing science and practice

A central goal of behavioral medicine is the creation of evidence-based interventions for promoting behavior change. Scientific knowledge about behavior change could be more effectively accumulated using “ontologies.” In information science, an ontology is a systematic method for articulating a “controlled vocabulary” of agreed-upon terms and their inter-relationships. It involves three core elements: (1) a controlled vocabulary specifying and defining existing classes; (2) specification of the inter-relationships between classes; and (3) codification in a computer-readable format to enable knowledge generation, organization, reuse, integration, and analysis. This paper introduces ontologies, provides a review of current efforts to create ontologies related to behavior change interventions and suggests future work. This paper was written by behavioral medicine and information science experts and was developed in partnership between the Society of Behavioral Medicine’s Technology Special Interest Group (SIG) and the Theories and Techniques of Behavior Change Interventions SIG. In recent years significant progress has been made in the foundational work needed to develop ontologies of behavior change. Ontologies of behavior change could facilitate a transformation of behavioral science from a field in which data from different experiments are siloed into one in which data across experiments could be compared and/or integrated. This could facilitate new approaches to hypothesis generation and knowledge discovery in behavioral science.     

A network-theoretic approach for decompositional translation across Open Biological Ontologies

Biological ontologies are now being widely used for annotation, sharing and retrieval of the biological data. Many of these ontologies are hosted under the umbrella of the Open Biological Ontologies Foundry. In order to support interterminology mapping, composite terms in these ontologies need to be translated into atomic or primitive terms in other, orthogonal ontologies, for example, gluconeogenesis (biological process term) to glucose (chemical ontology term). Identifying such decompositional ontology translations is a challenging problem. In this paper, we propose a network-theoretic approach based on the structure of the integrated OBO relationship graph. We use a network-theoretic measure, called the clustering coefficient, to find relevant atomic terms in the neighborhood of a composite term. By eliminating the existing GO to ChEBI Ontology mappings from OBO, we evaluate whether the proposed approach can re-identify the corresponding relationships. The results indicate that the network structure provides strong cues for decompositional ontology translation and the existing relationships can be used to identify new translations.     

A novel approach for connecting temporal-ontologies with blood flow simulations

In this paper an approach for developing a temporal domain ontology for biomedical simulations is introduced. The ideas are presented in the context of simulations of blood flow in aneurysms using the Lattice Boltzmann Method. The advantages in using ontologies are manyfold: On the one hand, ontologies having been proven to be able to provide medical special knowledge e.g., key parameters for simulations. On the other hand, based on a set of rules and the usage of a reasoner, a system for checking the plausibility as well as tracking the outcome of medical simulations can be constructed. Likewise, results of simulations including data derived from them can be stored and communicated in a way that can be understood by computers. Later on, this set of results can be analyzed. At the same time, the ontologies provide a way to exchange knowledge between researchers. Lastly, this approach can be seen as a black-box abstraction of the internals of the simulation for the biomedical researcher as well. This approach is able to provide the complete parameter sets for simulations, part of the corresponding results and part of their analysis as well as e.g., geometry and boundary conditions. These inputs can be transferred to different simulation methods for comparison. Variations on the provided parameters can be automatically used to drive these simulations. Using a rule base, unphysical inputs or outputs of the simulation can be detected and communicated to the physician in a suitable and familiar way. An example for an instantiation of the blood flow simulation ontology and exemplary rules for plausibility checking are given.     

ONTOFUSION: ontology-based integration of genomic and clinical databases

ONTOFUSION is an ontology-based system designed for biomedical database integration. It is based on two processes: mapping and unification. Mapping is a semi-automated process that uses ontologies to link a database schema with a conceptual framework-named virtual schema. There are three methodologies for creating virtual schemas, according to the origin of the domain ontology used: (1) top-down--e.g. using an existing ontology, such as the UMLS or Gene Ontology--, (2) bottom-up--building a new domain ontology-- and (3) a hybrid combination. Unification is an automated process for integrating ontologies and hence the database to which they are linked. Using these methods, we employed ONTOFUSION to integrate a large number of public genomic and clinical databases, as well as biomedical ontologies.     

Using ontology-based semantic similarity to facilitate the article screening process for systematic reviews

ObjectiveSystematic Reviews (SRs) are utilized to summarize evidence from high quality studies and are considered the preferred source of evidence-based practice (EBP). However, conducting SRs can be time and labor intensive due to the high cost of article screening. In previous studies, we demonstrated utilizing established (lexical) article relationships to facilitate the identification of relevant articles in an efficient and effective manner. Here we propose to enhance article relationships with background semantic knowledge derived from Unified Medical Language System (UMLS) concepts and ontologies.MethodsWe developed a pipelined semantic concepts representation process to represent articles from an SR into an optimized and enriched semantic space of UMLS concepts. Throughout the process, we leveraged concepts and concept relations encoded in biomedical ontologies (SNOMED-CT and MeSH) within the UMLS framework to prompt concept features of each article. Article relationships (similarities) were established and represented as a semantic article network, which was readily applied to assist with the article screening process. We incorporated the concept of active learning to simulate an interactive article recommendation process, and evaluated the performance on 15 completed SRs. We used work saved over sampling at 95% recall (WSS95) as the performance measure.ResultsWe compared the WSS95 performance of our ontology-based semantic approach to existing lexical feature approaches and corpus-based semantic approaches, and found that we had better WSS95 in most SRs. We also had the highest average WSS95 of 43.81% and the highest total WSS95 of 657.18%.ConclusionWe demonstrated using ontology-based semantics to facilitate the identification of relevant articles for SRs. Effective concepts and concept relations derived from UMLS ontologies can be utilized to establish article semantic relationships. Our approach provided a promising performance and can easily apply to any SR topics in the biomedical domain with generalizability.     

A Scientific Software Product Line for the Bioinformatics domain

ContextMost specialized users (scientists) that use bioinformatics applications do not have suitable training on software development. Software Product Line (SPL) employs the concept of reuse considering that it is defined as a set of systems that are developed from a common set of base artifacts. In some contexts, such as in bioinformatics applications, it is advantageous to develop a collection of related software products, using SPL approach. If software products are similar enough, there is the possibility of predicting their commonalities, differences and then reuse these common features to support the development of new applications in the bioinformatics area.ObjectivesThis paper presents the PL-Science approach which considers the context of SPL and ontology in order to assist scientists to define a scientific experiment, and to specify a workflow that encompasses bioinformatics applications of a given experiment. This paper also focuses on the use of ontologies to enable the use of Software Product Line in biological domains.MethodIn the context of this paper, Scientific Software Product Line (SSPL) differs from the Software Product Line due to the fact that SSPL uses an abstract scientific workflow model. This workflow is defined according to a scientific domain and using this abstract workflow model the products (scientific applications/algorithms) are instantiated.ResultsThrough the use of ontology as a knowledge representation model, we can provide domain restrictions as well as add semantic aspects in order to facilitate the selection and organization of bioinformatics workflows in a Scientific Software Product Line. The use of ontologies enables not only the expression of formal restrictions but also the inferences on these restrictions, considering that a scientific domain needs a formal specification.ConclusionsThis paper presents the development of the PL-Science approach, encompassing a methodology and an infrastructure, and also presents an approach evaluation. This evaluation presents case studies in bioinformatics, which were conducted in two renowned research institutions in Brazil.     

A reference ontology for biomedical informatics: the Foundational Model of Anatomy

The Foundational Model of Anatomy (FMA), initially developed as an enhancement of the anatomical content of UMLS, is a domain ontology of the concepts and relationships that pertain to the structural organization of the human body. It encompasses the material objects from the molecular to the macroscopic levels that constitute the body and associates with them non-material entities (spaces, surfaces, lines, and points) required for describing structural relationships. The disciplined modeling approach employed for the development of the FMA relies on a set of declared principles, high level schemes, Aristotelian definitions and a frame-based authoring environment. We propose the FMA as a reference ontology in biomedical informatics for correlating different views of anatomy, aligning existing and emerging ontologies in bioinformatics ontologies and providing a structure-based template for representing biological functions.     

Building an ontology of pulmonary diseases with natural language processing tools using textual corpora

Pathologies and acts are classified in thesauri to help physicians to code their activity. In practice, the use of thesauri is not sufficient to reduce variability in coding and thesauri are not suitable for computer processing. We think the automation of the coding task requires a conceptual modeling of medical items: an ontology. Our task is to help lung specialists code acts and diagnoses with software that represents medical knowledge of this concerned specialty by an ontology. The objective of the reported work was to build an ontology of pulmonary diseases dedicated to the coding process. To carry out this objective, we develop a precise methodological process for the knowledge engineer in order to build various types of medical ontologies. This process is based on the need to express precisely in natural language the meaning of each concept using differential semantics principles. A differential ontology is a hierarchy of concepts and relationships organized according to their similarities and differences. Our main research hypothesis is to apply natural language processing tools to corpora to develop the resources needed to build the ontology. We consider two corpora, one composed of patient discharge summaries and the other being a teaching book. We propose to combine two approaches to enrich the ontology building: (i) a method which consists of building terminological resources through distributional analysis and (ii) a method based on the observation of corpus sequences in order to reveal semantic relationships. Our ontology currently includes 1550 concepts and the software implementing the coding process is still under development. Results show that the proposed approach is operational and indicates that the combination of these methods and the comparison of the resulting terminological structures give interesting clues to a knowledge engineer for the building of an ontology.     

Cross-domain targeted ontology subsets for annotation: The case of SNOMED CORE and RxNorm

The benefits of using ontology subsets versus full ontologies are well-documented for many applications. In this study, we propose an efficient subset extraction approach for a domain using a biomedical ontology repository with mappings, a cross-ontology, and a source subset from a related domain. As a case study, we extracted a subset of drugs from RxNorm using the UMLS Metathesaurus, the NDF-RT cross-ontology, and the CORE problem list subset of SNOMED CT. The extracted subset, which we termed RxNorm/CORE, was 4% the size of the full RxNorm (0.4% when considering ingredients only). For evaluation, we used CORE and RxNorm/CORE as thesauri for the annotation of clinical documents and compared their performance to that of their respective full ontologies (i.e., SNOMED CT and RxNorm). The wide range in recall of both CORE (29–69%) and RxNorm/CORE (21–35%) suggests that more quantitative research is needed to assess the benefits of using ontology subsets as thesauri in annotation applications. Our approach to subset extraction, however, opens a door to help create other types of clinically useful domain specific subsets and acts as an alternative in scenarios where well-established subset extraction techniques might suffer from difficulties or cannot be applied.     

An ontological model of the practice transformation process

Patient-centered medical home is defined as an approach for providing comprehensive primary care that facilitates partnerships between individual patients and their personal providers. The current state of the practice transformation process is ad hoc and no methodological basis exists for transforming a practice into a patient-centered medical home. Practices and hospitals somehow accomplish the transformation and send the transformation information to a certification agency, such as the National Committee for Quality Assurance, completely ignoring the development and maintenance of the processes that keep the medical home concept alive. Many recent studies point out that such a transformation is hard as it requires an ambitious whole-practice reengineering and redesign. As a result, the practices suffer change fatigue in getting the transformation done. In this paper, we focus on the complexities of the practice transformation process and present a robust ontological model for practice transformation. The objective of the model is to create an understanding of the practice transformation process in terms of key process areas and their activities. We describe how our ontology captures the knowledge of the practice transformation process, elicited from domain experts, and also discuss how, in the future, that knowledge could be diffused across stakeholders in a healthcare organization. Our research is the first effort in practice transformation process modeling. To build an ontological model for practice transformation, we adopt the Methontology approach. Based on the literature, we first identify the key process areas essential for a practice transformation process to achieve certification status. Next, we develop the practice transformation ontology by creating key activities and precedence relationships among the key process areas using process maturity concepts. At each step, we employ a panel of domain experts to verify the intermediate representations of the ontology. Finally, we implement a prototype of the practice transformation ontology using Protégé.     

Integrating reasoning and clinical archetypes using OWL ontologies and SWRL rules

Semantic interoperability is essential to facilitate the computerized support for alerts, workflow management and evidence-based healthcare across heterogeneous electronic health record (EHR) systems. Clinical archetypes, which are formal definitions of specific clinical concepts defined as specializations of a generic reference (information) model, provide a mechanism to express data structures in a shared and interoperable way. However, currently available archetype languages do not provide direct support for mapping to formal ontologies and then exploiting reasoning on clinical knowledge, which are key ingredients of full semantic interoperability, as stated in the SemanticHEALTH report [1]. This paper reports on an approach to translate definitions expressed in the openEHR Archetype Definition Language (ADL) to a formal representation expressed using the Ontology Web Language (OWL). The formal representations are then integrated with rules expressed with Semantic Web Rule Language (SWRL) expressions, providing an approach to apply the SWRL rules to concrete instances of clinical data. Sharing the knowledge expressed in the form of rules is consistent with the philosophy of open sharing, encouraged by archetypes. Our approach also allows the reuse of formal knowledge, expressed through ontologies, and extends reuse to propositions of declarative knowledge, such as those encoded in clinical guidelines. This paper describes the ADL-to-OWL translation approach, describes the techniques to map archetypes to formal ontologies, and demonstrates how rules can be applied to the resulting representation. We provide examples taken from a patient safety alerting system to illustrate our approach.