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Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface

BACKGROUND: Efforts are underway to semantically integrate large biomedical knowledge graphs using common upper-level ontologies to federate graph-oriented application programming interfaces (APIs) to the data. However, federation poses several challenges, including query routing to appropriate know...

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Detalles Bibliográficos
Autores principales: Cox, Steven, Ahalt, Stanley C, Balhoff, James, Bizon, Chris, Fecho, Karamarie, Kebede, Yaphet, Morton, Kenneth, Tropsha, Alexander, Wang, Patrick, Xu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721550/
https://www.ncbi.nlm.nih.gov/pubmed/33226347
http://dx.doi.org/10.2196/17964
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author Cox, Steven
Ahalt, Stanley C
Balhoff, James
Bizon, Chris
Fecho, Karamarie
Kebede, Yaphet
Morton, Kenneth
Tropsha, Alexander
Wang, Patrick
Xu, Hao
author_facet Cox, Steven
Ahalt, Stanley C
Balhoff, James
Bizon, Chris
Fecho, Karamarie
Kebede, Yaphet
Morton, Kenneth
Tropsha, Alexander
Wang, Patrick
Xu, Hao
author_sort Cox, Steven
collection PubMed
description BACKGROUND: Efforts are underway to semantically integrate large biomedical knowledge graphs using common upper-level ontologies to federate graph-oriented application programming interfaces (APIs) to the data. However, federation poses several challenges, including query routing to appropriate knowledge sources, generation and evaluation of answer subsets, semantic merger of those answer subsets, and visualization and exploration of results. OBJECTIVE: We aimed to develop an interactive environment for query, visualization, and deep exploration of federated knowledge graphs. METHODS: We developed a biomedical query language and web application interphase—termed as Translator Query Language (TranQL)—to query semantically federated knowledge graphs and explore query results. TranQL uses the Biolink data model as an upper-level biomedical ontology and an API standard that has been adopted by the Biomedical Data Translator Consortium to specify a protocol for expressing a query as a graph of Biolink data elements compiled from statements in the TranQL query language. Queries are mapped to federated knowledge sources, and answers are merged into a knowledge graph, with mappings between the knowledge graph and specific elements of the query. The TranQL interactive web application includes a user interface to support user exploration of the federated knowledge graph. RESULTS: We developed 2 real-world use cases to validate TranQL and address biomedical questions of relevance to translational science. The use cases posed questions that traversed 2 federated Translator API endpoints: Integrated Clinical and Environmental Exposures Service (ICEES) and Reasoning Over Biomedical Objects linked in Knowledge Oriented Pathways (ROBOKOP). ICEES provides open access to observational clinical and environmental data, and ROBOKOP provides access to linked biomedical entities, such as “gene,” “chemical substance,” and “disease,” that are derived largely from curated public data sources. We successfully posed queries to TranQL that traversed these endpoints and retrieved answers that we visualized and evaluated. CONCLUSIONS: TranQL can be used to ask questions of relevance to translational science, rapidly obtain answers that require assertions from a federation of knowledge sources, and provide valuable insights for translational research and clinical practice.
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spelling pubmed-77215502020-12-11 Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface Cox, Steven Ahalt, Stanley C Balhoff, James Bizon, Chris Fecho, Karamarie Kebede, Yaphet Morton, Kenneth Tropsha, Alexander Wang, Patrick Xu, Hao JMIR Med Inform Original Paper BACKGROUND: Efforts are underway to semantically integrate large biomedical knowledge graphs using common upper-level ontologies to federate graph-oriented application programming interfaces (APIs) to the data. However, federation poses several challenges, including query routing to appropriate knowledge sources, generation and evaluation of answer subsets, semantic merger of those answer subsets, and visualization and exploration of results. OBJECTIVE: We aimed to develop an interactive environment for query, visualization, and deep exploration of federated knowledge graphs. METHODS: We developed a biomedical query language and web application interphase—termed as Translator Query Language (TranQL)—to query semantically federated knowledge graphs and explore query results. TranQL uses the Biolink data model as an upper-level biomedical ontology and an API standard that has been adopted by the Biomedical Data Translator Consortium to specify a protocol for expressing a query as a graph of Biolink data elements compiled from statements in the TranQL query language. Queries are mapped to federated knowledge sources, and answers are merged into a knowledge graph, with mappings between the knowledge graph and specific elements of the query. The TranQL interactive web application includes a user interface to support user exploration of the federated knowledge graph. RESULTS: We developed 2 real-world use cases to validate TranQL and address biomedical questions of relevance to translational science. The use cases posed questions that traversed 2 federated Translator API endpoints: Integrated Clinical and Environmental Exposures Service (ICEES) and Reasoning Over Biomedical Objects linked in Knowledge Oriented Pathways (ROBOKOP). ICEES provides open access to observational clinical and environmental data, and ROBOKOP provides access to linked biomedical entities, such as “gene,” “chemical substance,” and “disease,” that are derived largely from curated public data sources. We successfully posed queries to TranQL that traversed these endpoints and retrieved answers that we visualized and evaluated. CONCLUSIONS: TranQL can be used to ask questions of relevance to translational science, rapidly obtain answers that require assertions from a federation of knowledge sources, and provide valuable insights for translational research and clinical practice. JMIR Publications 2020-11-23 /pmc/articles/PMC7721550/ /pubmed/33226347 http://dx.doi.org/10.2196/17964 Text en ©Steven Cox, Stanley C Ahalt, James Balhoff, Chris Bizon, Karamarie Fecho, Yaphet Kebede, Kenneth Morton, Alexander Tropsha, Patrick Wang, Hao Xu. Originally published in JMIR Medical Informatics (http://medinform.jmir.org), 23.11.2020. https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIR Medical Informatics, is properly cited. The complete bibliographic information, a link to the original publication on http://medinform.jmir.org/, as well as this copyright and license information must be included.
spellingShingle Original Paper
Cox, Steven
Ahalt, Stanley C
Balhoff, James
Bizon, Chris
Fecho, Karamarie
Kebede, Yaphet
Morton, Kenneth
Tropsha, Alexander
Wang, Patrick
Xu, Hao
Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title_full Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title_fullStr Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title_full_unstemmed Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title_short Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface
title_sort visualization environment for federated knowledge graphs: development of an interactive biomedical query language and web application interface
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721550/
https://www.ncbi.nlm.nih.gov/pubmed/33226347
http://dx.doi.org/10.2196/17964
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