The Requirements for Ontologies in Medical Data Integration: A Case Study

Evidence-based medicine is critically dependent on three sources of information: a medical knowledge base, the patients medical record and knowledge of available resources, including where appropriate, clinical protocols. Patient data is often scattered in a variety of databases and may, in a distributed model, be held across several disparate repositories. Consequently addressing the needs of an evidence-based medicine community presents issues of biomedical data integration, clinical interpretation and knowledge management. This paper outlines how the Health-e-Child project has approached the challenge of requirements specification for (bio-) medical data integration, from the level of cellular data, through disease to that of patient and population. The approach is illuminated through the requirements elicitation and analysis of Juvenile Idiopathic Arthritis (JIA), one of three diseases being studied in the EC-funded Health-e-Child project.Comment: 6 pages, 1 figure. Presented at the 11th International Database Engineering & Applications Symposium (Ideas2007). Banff, Canada September 200

Biomedical ontology alignment: An approach based on representation learning

While representation learning techniques have shown great promise in application to a number of different NLP tasks, they have had little impact on the problem of ontology matching. Unlike past work that has focused on feature engineering, we present a novel representation learning approach that is tailored to the ontology matching task. Our approach is based on embedding ontological terms in a high-dimensional Euclidean space. This embedding is derived on the basis of a novel phrase retrofitting strategy through which semantic similarity information becomes inscribed onto fields of pre-trained word vectors. The resulting framework also incorporates a novel outlier detection mechanism based on a denoising autoencoder that is shown to improve performance. An ontology matching system derived using the proposed framework achieved an F-score of 94% on an alignment scenario involving the Adult Mouse Anatomical Dictionary and the Foundational Model of Anatomy ontology (FMA) as targets. This compares favorably with the best performing systems on the Ontology Alignment Evaluation Initiative anatomy challenge. We performed additional experiments on aligning FMA to NCI Thesaurus and to SNOMED CT based on a reference alignment extracted from the UMLS Metathesaurus. Our system obtained overall F-scores of 93.2% and 89.2% for these experiments, thus achieving state-of-the-art results

Results of the ontology alignment evaluation initiative 2019

The Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity (from simple thesauri to expressive OWL ontologies) and use different evaluation modalities (e.g., blind evaluation, open evaluation, or consensus). The OAEI 2019 campaign offered 11 tracks with 29 test cases, and was attended by 20 participants. This paper is an overall presentation of that campaign

Ontology (Science)

Increasingly, in data-intensive areas of the life sciences, experimental results are being described in algorithmically useful ways with the help of ontologies. Such ontologies are authored and maintained by scientists to support the retrieval, integration and analysis of their data. The proposition to be defended here is that ontologies of this type – the Gene Ontology (GO) being the most conspicuous example – are a _part of science_. Initial evidence for the truth of this proposition (which some will find self-evident) is the increasing recognition of the importance of empirically-based methods of evaluation to the ontology develop¬ment work being undertaken in support of scientific research. Ontologies created by scientists must, of course, be associated with implementations satisfying the requirements of software engineering. But the ontologies are not themselves engineering artifacts, and to conceive them as such brings grievous consequences. Rather, ontologies such as the GO are in different respects comparable to scientific theories, to scientific databases, and to scientific journal publications. Such a view implies a new conception of what is involved in the author¬ing, maintenance and application of ontologies in scientific contexts, and therewith also a new approach to the evaluation of ontologies and to the training of ontologists

The OBO Foundry: Coordinated Evolution of Ontologies to Support Biomedical Data Integration

The value of any kind of data is greatly enhanced when it exists in a form that allows it to be integrated with other data. One approach to integration is through the annotation of multiple bodies of data using common controlled vocabularies or ‘ontologies’. Unfortunately, the very success of this approach has led to a proliferation of ontologies, which itself creates obstacles to integration. The Open Biomedical Ontologies (OBO) consortium has set in train a strategy to overcome this problem. Existing OBO ontologies, including the Gene Ontology, are undergoing a process of coordinated reform, and new ontologies being created, on the basis of an evolving set of shared principles governing ontology development. The result is an expanding family of ontologies designed to be interoperable, logically well-formed, and to incorporate accurate representations of biological reality. We describe the OBO Foundry initiative, and provide guidelines for those who might wish to become involved in the future

Building an effective and efficient background knowledge resource to enhance ontology matching

International audienceOntology matching is critical for data integration and interoperability. Original ontology matching approaches relied solely on the content of the ontologies to align. However, these approaches are less effective when equivalent concepts have dissimilar labels and are structured with different modeling views. To overcome this semantic heterogeneity, the community has turned to the use of external background knowledge resources. Several methods have been proposed to select ontologies, other than the ones to align, as background knowledge to enhance a given ontology-matching task. However, these methods return a set of complete ontologies, while, in most cases, only fragments of the returned ontologies are effective for discovering new mappings. In this article, we propose an approach to select and build a background knowledge resource with just the right concepts chosen from a set of ontologies, which improves efficiency without loss of effectiveness. The use of background knowledge in ontology matching is a double-edged sword: while it may increase recall (i.e., retrieve more correct mappings), it may lower precision (i.e., produce more incorrect mappings). Therefore, we propose two methods to select the most relevant mappings from the candidate ones: (1)~a selection based on a set of rules and (2)~a selection based on supervised machine learning. Our experiments, conducted on two Ontology Alignment Evaluation Initiative (OAEI) datasets, confirm the effectiveness and efficiency of our approach. Moreover, the F-measure values obtained with our approach are very competitive to those of the state-of-the-art matchers exploiting background knowledge resources

OHMI: The Ontology of Host-Microbiome Interactions

Host-microbiome interactions (HMIs) are critical for the modulation of biological processes and are associated with several diseases, and extensive HMI studies have generated large amounts of data. We propose that the logical representation of the knowledge derived from these data and the standardized representation of experimental variables and processes can foster integration of data and reproducibility of experiments and thereby further HMI knowledge discovery. A community-based Ontology of Host-Microbiome Interactions (OHMI) was developed following the OBO Foundry principles. OHMI leverages established ontologies to create logically structured representations of microbiomes, microbial taxonomy, host species, host anatomical entities, and HMIs under different conditions and associated study protocols and types of data analysis and experimental results