The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

Autor:	Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Adam MP; University of Washington School of Medicine, Seattle, WA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Chan LE; Oregon State University, Corvallis, OR, USA., Gomez-Andres D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Robinson Way, Cambridge CB2 0PY, UK., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico, Barcelona, Spain., Matentzoglu NA; Semanticly, Athens, Attiki, Greece., Munoz-Torres MC; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg, Saar, Germany., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94143, USA., Strauss T; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Swietlik EM; Department of Medicine, University of Cambridge, Heart and Lung Research Institute, Cambridge CB2 0BB, UK., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Electronic address: peter.robinson@jax.org.
Jazyk:	angličtina
Zdroj:	Med (New York, N.Y.) [Med] 2023 Dec 08; Vol. 4 (12), pp. 913-927.e3. Date of Electronic Publication: 2023 Nov 13.
DOI:	10.1016/j.medj.2023.10.003
Abstrakt:	Background: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical procedures, therapies, and interventions. Methods: MAxO incorporates logical structures that link MAxO terms to numerous other ontologies within the OBO Foundry. Term development involves a blend of manual and semi-automated processes. Additionally, we have generated annotations detailing diagnostic modalities for specific phenotypic abnormalities defined by the Human Phenotype Ontology (HPO). We introduce a web application, POET, that facilitates MAxO annotations for specific medical actions for diseases using the Mondo Disease Ontology. Findings: MAxO encompasses 1,757 terms spanning a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. These terms annotate phenotypic features associated with specific disease (using HPO and Mondo). Presently, there are over 16,000 MAxO diagnostic annotations that target HPO terms. Through POET, we have created 413 MAxO annotations specifying treatments for 189 rare diseases. Conclusions: MAxO offers a computational representation of treatments and other actions taken for the clinical management of patients. Its development is closely coupled to Mondo and HPO, broadening the scope of our computational modeling of diseases and phenotypic features. We invite the community to contribute disease annotations using POET (https://poet.jax.org/). MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO). Funding: NHGRI 1U24HG011449-01A1 and NHGRI 5RM1HG010860-04. Competing Interests: Declaration of interests The authors declare no competing interests. (Copyright © 2023. Published by Elsevier Inc.)
Databáze:	MEDLINE
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