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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
Published on: October 13, 2023
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Querying semantic catalogues of biomedical databases.
Arnaldo Pereira1, João Rafael Almeida2, Rui Pedro Lopes3
1DETI/IEETA, LASI, University of Aveiro, Aveiro, Portugal.
Journal of Biomedical Informatics
|December 23, 2022
Summary
This study introduces a novel strategy for retrieving biomedical datasets using natural language queries. The method enhances data accessibility for observational studies by transforming health data into a semantic format, simplifying complex data retrieval.
Area of Science:
- Biomedical Informatics
- Health Data Science
- Observational Studies
Background:
- Secondary use of health data is crucial for medical and biomedical discoveries.
- Multi-center observational studies face challenges in identifying suitable datasets.
- A deep understanding of individual datasets is often required, hindering research progress.
Purpose of the Study:
- To develop a strategy for retrieving semantically annotated biomedical datasets.
- To enable complex data queries using natural language interfaces.
- To overcome the limitations of traditional data retrieval methods in multi-center studies.
Main Methods:
- Transforming natural language questions into formal language queries.
- Semantically annotating biomedical datasets using open biomedical ontologies.
- Developing a natural language interface for querying semantic data.
Main Results:
- Validated methodology using Alzheimer's disease datasets on a European data-sharing platform.
- Published data as a FAIR endpoint in a semantic information format.
- Demonstrated the ability to handle single-concept, exclusion criteria, and multi-concept questions.
Conclusions:
- The proposed strategy facilitates the use of biomedical data through semantic transformation and natural language querying.
- This approach enhances the accessibility and utility of health data for observational research.
- The method simplifies complex data retrieval without requiring users to master formal query languages.
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