Annotating and indexing scientific articles with rare diseases
To our knowledge, this is the first systematic, scalable semantic framework for annotating and indexing rare disease literature at scale. By operationalizing OrphaNet in an automated, reproducible pipeline and addressing data scarcity and lexical variability, the work advances biomedical semantics for rare diseases and enables disease-centric monitoring, evaluation, and discovery across the research landscape.
Authors
- Hosein Azarbonyad (ORCID: https://orcid.org/0000-0003-0841-7516)
- Jiangtao Yu (ORCID: https://orcid.org/0000-0003-4883-7398)
- M. DuMoulin
- George Tsatsaronis (ORCID: https://orcid.org/0000-0003-2116-2933)
- Zubair Afzal
- Ilse Nederveen
- Rik Iping
Institutions
- RELX Group (Netherlands) (NL)
- Erasmus MC (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Biomedical Semantics
- Published
- 2026-01-06
- DOI
- https://doi.org/10.1186/s13326-025-00346-1
- Primary Topic
- Biomedical Text Mining and Ontologies
- Type
- article
- Field-Weighted Citation Impact
- 0.00