Citations 2
The Human Phenotype Ontology in 2024: phenotypes around the world
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Nucleic Acids Research | October 19, 2023 | Volume: 52 | Issue: D1 | Pages: D1333-D1346
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
An informatics research agenda to support precision medicine: seven key areas
Tenenbaum, Jessica D. , Avillach, Paul , Benham‐Hutchins, Marge , Breitenstein, Matthew K. , Crowgey, Erin L. , Hoffman, Mark A. , Jiang, Xia , Madhavan, Subha , Mattison, John , Nagarajan, Radhakrishnan , Ray, Bisakha, Shin, Dmitriy , Visweswaran, Shyam , Freimuth, Robert R. , Zhao, Zhongming , Hoffman, Mark A , Freimuth, Robert R
Journal of the American Medical Informatics Association | April 24, 2016 | Volume: 23 | Issue: 4 | Pages: 791-795
AbstractThe recent announcement of the Precision Medicine Initiative by President Obama has brought precision medicine (PM) to the forefront for healthcare providers, researchers, regulators, innovators, and funders alike. As technologies continue to evolve and datasets grow in magnitude, a strong computational infrastructure will be essential to realize PM’s vision of improved healthcare derived from personal data. In addition, informatics research and innovation affords a tremendous opportunity to drive the science underlying PM. The informatics community must lead the development of technologies and methodologies that will increase the discovery and application of biomedical knowledge through close collaboration between researchers, clinicians, and patients. This perspective highlights seven key areas that are in need of further informatics research and innovation to support the realization of PM.