32 research outputs found
NCBO Ontology Recommender 2.0: An Enhanced Approach for Biomedical Ontology Recommendation
Biomedical researchers use ontologies to annotate their data with ontology
terms, enabling better data integration and interoperability. However, the
number, variety and complexity of current biomedical ontologies make it
cumbersome for researchers to determine which ones to reuse for their specific
needs. To overcome this problem, in 2010 the National Center for Biomedical
Ontology (NCBO) released the Ontology Recommender, which is a service that
receives a biomedical text corpus or a list of keywords and suggests ontologies
appropriate for referencing the indicated terms. We developed a new version of
the NCBO Ontology Recommender. Called Ontology Recommender 2.0, it uses a new
recommendation approach that evaluates the relevance of an ontology to
biomedical text data according to four criteria: (1) the extent to which the
ontology covers the input data; (2) the acceptance of the ontology in the
biomedical community; (3) the level of detail of the ontology classes that
cover the input data; and (4) the specialization of the ontology to the domain
of the input data. Our evaluation shows that the enhanced recommender provides
higher quality suggestions than the original approach, providing better
coverage of the input data, more detailed information about their concepts,
increased specialization for the domain of the input data, and greater
acceptance and use in the community. In addition, it provides users with more
explanatory information, along with suggestions of not only individual
ontologies but also groups of ontologies. It also can be customized to fit the
needs of different scenarios. Ontology Recommender 2.0 combines the strengths
of its predecessor with a range of adjustments and new features that improve
its reliability and usefulness. Ontology Recommender 2.0 recommends over 500
biomedical ontologies from the NCBO BioPortal platform, where it is openly
available.Comment: 29 pages, 8 figures, 11 table
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An Informatics Roadmap Toward a FAIR Understanding of Mitochondrial Biology and Rare Mitochondrial Disease
Mitochondrial biology is integral to our fundamental understanding of human health and many diseases. They exist in every human cell type except for red blood cells and have critical functions in metabolism, oxidative phosphorylation, oxidation-reduction, and as signaling hubs responsible for mediating protective mechanisms. Rare mitochondrial diseases (RMDs) are devastating and complex, affect multiple organ systems, and disproportionately impact young children. Despite copious existing knowledge and increased public interest, the knowledge is fragmented and difficult to access. Clinical case reports (CCRs) on RMDs contain valuable clinical insights, but they are scarce and lack the metadata necessary to facilitate their discovery among the two million CCRs on PubMed. The unstructured text data of CCRs is also ill-suited to computational approaches, limiting our ability to derive the knowledge contained within.To address these issues, I assembled all available informatics tools and resources with mitochondrial components and used them to contribute to Gene Wiki pages that enable easy access to mitochondrial knowledge for researchers, students, clinicians, and patients. Through these efforts, I made mitochondrial gene, protein, and disease knowledge widely accessible with contributions of over 4MB of content across 541 Gene Wiki pages. Concurrently, I used Gene Wiki as an educational platform to train over 50 students in the biosciences and pre-medical studies in mitochondrial biology and disease, as well as instilling effective research and writing methods in biomedicine.To impose structure on CCRs and render them FAIR (Findable, Accessible, Interoperable, Reusable), I developed and applied a standardized metadata template to RMD CCRs and codified patient symptomology with the International Statistical Classification of Disease and Related Health Problems (ICD) system. I created the open-source, cloud-based MitoCases RMD Knowledge Platform (http://mitocases.org/) to house data on 384 RMD CCRs, including 4,561 instances of 952 unique ICD codes. Supplementing CCRs with structured metadata amplifies machine-readable information content and provides a distinct improvement in searching for CCRs as compared to indexing by title and abstract. Finally, I employed these resources to conduct a thorough review of Barth syndrome and characterized the diversity of presentations, range of genetic etiologies, and treatment paradigms