Comparative study using inverse ontology cogency and alternatives for concept recognition in the annotated National Library of Medicine database.

This paper introduces inverse ontology cogency, a concept recognition process and distance function that is biologically-inspired and competitive with alternative methods. The paper introduces inverse ontology cogency as a new alternative method. It is a novel distance measure used in selecting the optimum mapping between ontology-specified concepts and phrases in free-form text. We also apply a multi-layer perceptron and text processing method for named entity recognition as an alternative to recurrent neural network methods. Automated named entity recognition, or concept recognition, is a common task in natural language processing. Similarities between confabulation theory and existing language models are discussed. This paper provides comparisons to MetaMap from the National Library of Medicine (NLM), a popular tool used in medicine to map free-form text to concepts in a medical ontology. The NLM provides a manually annotated database from the medical literature with concepts labeled, a unique, valuable source of ground truth, permitting comparison with MetaMap performance. Comparisons for different feature set combinations are made to demonstrate the effectiveness of inverse ontology cogency for entity recognition. Results indicate that using both inverse ontology cogency and corpora cogency improved concept recognition precision 20% over the best published MetaMap results. This demonstrates a new, effective approach for identifying medical concepts in text. This is the first time cogency has been explicitly invoked for reasoning with ontologies, and the first time it has been used on medical literature where high-quality ground truth is available for quality assessment.

Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.

PURPOSE: There is as yet no computer-processable resource to describe treatment end points in cancer, hindering our ability to systematically capture and share outcomes data to inform better patient care. To address these unmet needs, we have built an ontology, the Cancer Care Treatment Outcome Ontology (CCTOO), to organize high-level concepts of treatment end points with structured knowledge representation to facilitate standardized sharing of real-world data. METHODS: End points from oncology trials in ClinicalTrials.gov were extracted, queried using the keyword cancer, and followed by an expert appraisal. Synonyms and relevant terms were imported from the National Cancer Institute Thesaurus and Common Terminology Criteria for Adverse Events. Logical relationships among concepts were manually represented by production rules. The applicability of 1,847 rules was tested in an index case. RESULTS: After removing duplicated terms from 54,705 trial entries, an ontology holding 1,133 terms was built. CCTOO organized concepts into four domains (cancer treatment, health services, physical, and psychosocial health-related concepts), 13 subgroups (including efficacy, safety, and quality of life), and two (taxonomic and evaluative) concept hierarchies. This ontology has a comprehensive term coverage in the cancer trial literature: at least one term was mentioned in 98% of MEDLINE abstracts of phase I to III trials, whereas concepts about efficacy were mentioned in 7,208 (79%) phase I, 15,051 (92%) phase II, and 3,884 (86%) phase III trials. The event sequence of the index case was readily convertible to a comprehensive profile incorporating response, treatment toxicity, and survival by applying the set of production rules curated in the CCTOO. CONCLUSION: CCTOO categorizes high-level treatment end points used in oncology and provides a mechanism for profiling individual patient data by outcomes to facilitate translational analysis.

A histological ontology of the human cardiovascular system.

BACKGROUND: In this paper, we describe a histological ontology of the human cardiovascular system developed in collaboration among histology experts and computer scientists. RESULTS: The histological ontology is developed following an existing methodology using Conceptual Models (CMs) and validated using OOPS!, expert evaluation with CMs, and how accurately the ontology can answer the Competency Questions (CQ). It is publicly available at http://bioportal.bioontology.org/ontologies/HO and https://w3id.org/def/System . CONCLUSIONS: The histological ontology is developed to support complex tasks, such as supporting teaching activities, medical practices, and bio-medical research or having natural language interactions.

Ontology-Based Approach to Social Data Sentiment Analysis: Detection of Adolescent Depression Signals.

BACKGROUND: Social networking services (SNSs) contain abundant information about the feelings, thoughts, interests, and patterns of behavior of adolescents that can be obtained by analyzing SNS postings. An ontology that expresses the shared concepts and their relationships in a specific field could be used as a semantic framework for social media data analytics. OBJECTIVE: The aim of this study was to refine an adolescent depression ontology and terminology as a framework for analyzing social media data and to evaluate description logics between classes and the applicability of this ontology to sentiment analysis. METHODS: The domain and scope of the ontology were defined using competency questions. The concepts constituting the ontology and terminology were collected from clinical practice guidelines, the literature, and social media postings on adolescent depression. Class concepts, their hierarchy, and the relationships among class concepts were defined. An internal structure of the ontology was designed using the entity-attribute-value (EAV) triplet data model, and superclasses of the ontology were aligned with the upper ontology. Description logics between classes were evaluated by mapping concepts extracted from the answers to frequently asked questions (FAQs) onto the ontology concepts derived from description logic queries. The applicability of the ontology was validated by examining the representability of 1358 sentiment phrases using the ontology EAV model and conducting sentiment analyses of social media data using ontology class concepts. RESULTS: We developed an adolescent depression ontology that comprised 443 classes and 60 relationships among the classes; the terminology comprised 1682 synonyms of the 443 classes. In the description logics test, no error in relationships between classes was found, and about 89% (55/62) of the concepts cited in the answers to FAQs mapped onto the ontology class. Regarding applicability, the EAV triplet models of the ontology class represented about 91.4% of the sentiment phrases included in the sentiment dictionary. In the sentiment analyses, "academic stresses" and "suicide" contributed negatively to the sentiment of adolescent depression. CONCLUSIONS: The ontology and terminology developed in this study provide a semantic foundation for analyzing social media data on adolescent depression. To be useful in social media data analysis, the ontology, especially the terminology, needs to be updated constantly to reflect rapidly changing terms used by adolescents in social media postings. In addition, more attributes and value sets reflecting depression-related sentiments should be added to the ontology.

PopHR: a knowledge-based platform to support integration, analysis, and visualization of population health data.

Population health decision makers must consider complex relationships between multiple concepts measured with differential accuracy from heterogeneous data sources. Population health information systems are currently limited in their ability to integrate data and present a coherent portrait of population health. Consequentially, these systems can provide only basic support for decision makers. The Population Health Record (PopHR) is a semantic web application that automates the integration and extraction of massive amounts of heterogeneous data from multiple distributed sources (e.g., administrative data, clinical records, and survey responses) to support the measurement and monitoring of population health and health system performance for a defined population. The design of the PopHR draws on the theories of the determinants of health and evidence-based public health to harmonize and explicitly link information about a population with evidence about the epidemiology and control of chronic diseases. Organizing information in this manner and linking it explicitly to evidence is expected to improve decision making related to the planning, implementation, and evaluation of population health and health system interventions. In this paper, we describe the PopHR platform and discuss the architecture, design, key modules, and its implementation and use.

The Ontology for Biomedical Investigations.

The Ontology for Biomedical Investigations (OBI) is an ontology that provides terms with precisely defined meanings to describe all aspects of how investigations in the biological and medical domains are conducted. OBI re-uses ontologies that provide a representation of biomedical knowledge from the Open Biological and Biomedical Ontologies (OBO) project and adds the ability to describe how this knowledge was derived. We here describe the state of OBI and several applications that are using it, such as adding semantic expressivity to existing databases, building data entry forms, and enabling interoperability between knowledge resources. OBI covers all phases of the investigation process, such as planning, execution and reporting. It represents information and material entities that participate in these processes, as well as roles and functions. Prior to OBI, it was not possible to use a single internally consistent resource that could be applied to multiple types of experiments for these applications. OBI has made this possible by creating terms for entities involved in biological and medical investigations and by importing parts of other biomedical ontologies such as GO, Chemical Entities of Biological Interest (ChEBI) and Phenotype Attribute and Trait Ontology (PATO) without altering their meaning. OBI is being used in a wide range of projects covering genomics, multi-omics, immunology, and catalogs of services. OBI has also spawned other ontologies (Information Artifact Ontology) and methods for importing parts of ontologies (Minimum information to reference an external ontology term (MIREOT)). The OBI project is an open cross-disciplinary collaborative effort, encompassing multiple research communities from around the globe. To date, OBI has created 2366 classes and 40 relations along with textual and formal definitions. The OBI Consortium maintains a web resource (http://obi-ontology.org) providing details on the people, policies, and issues being addressed in association with OBI. The current release of OBI is available at http://purl.obolibrary.org/obo/obi.owl.

Medical concept representation: the years beyond 2000.

This work aims at understanding the state of the art in the broad contextual research area of "medical concept representation". Our data support the general understanding that the focus of research has moved toward medical ontologies, which we interpret as a paradigm shift. Both the opinion of socially active groups of researchers and changes in bibliometric data since 1988 support this opinion. Socially active researchers mention the OBO foundry, SNOMED CT, and the UMLS as anchor activities.

Medical ontology for treatment of clinical data from children and youth

The use of information technologies in the field of biomedical data management has grown considerably and is today one of the main fields of use of these technologies. There are several advantages arising either to an individual’s health or to public health, particularly because access to clinical data become available anywhere access via the Internet or individual health card. This card will contain personal data accessible from a terminal card reader, identical to the citizen card. This work focuses on the development of an ontology of universal data structure so that the information is accessible and organized in the same way, regardless of the system that use them. In this context there is the need to incorporate security mechanisms, the respect of ethical principles underlying the management and maintenance of clinical data, ensuring maximum confidentiality. To develop the proposed ontology, for the treatment of clinical data of children and youth is used as reference bulletin health in Portugal. Using this structure, it follows the clear and unambiguous identification of the fields required for registration of clinical information, standardized in a relational model. To ensure the confidentiality of data, identification of the individual is only the number of national health system and are not recorded on the card personal data such as name, address or contact forms (AU)

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Towards Web 3.0: taxonomies and ontologies for medical education -- a systematic review.

INTRODUCTION: Both for curricular development and mapping, as well as for orientation within the mounting supply of learning resources in medical education, the Semantic Web ("Web 3.0") poses a low-threshold, effective tool that enables identification of content related items across system boundaries. Replacement of the currently required manual with an automatically generated link, which is based on content and semantics, requires the use of a suitably structured vocabulary for a machine-readable description of object content. Aim of this study is to compile the existing taxonomies and ontologies used for the annotation of medical content and learning resources, to compare those using selected criteria, and to verify their suitability in the context described above. METHODS: Based on a systematic literature search, existing taxonomies and ontologies for the description of medical learning resources were identified. Through web searches and/or direct contact with the respective editors, each of the structured vocabularies thus identified were examined in regards to topic, structure, language, scope, maintenance, and technology of the taxonomy/ontology. In addition, suitability for use in the Semantic Web was verified. RESULTS: Among 20 identified publications, 14 structured vocabularies were identified, which differed rather strongly in regards to language, scope, currency, and maintenance. None of the identified vocabularies fulfilled the necessary criteria for content description of medical curricula and learning resources in the German-speaking world. DISCUSSION: While moving towards Web 3.0, a significant problem lies in the selection and use of an appropriate German vocabulary for the machine-readable description of object content. Possible solutions include development, translation and/or combination of existing vocabularies, possibly including partial translations of English vocabularies.