PheneBank: a literature-based database of phenotypes.
Ontology highlight
ABSTRACT: Motivation
Significant effort has been spent by curators to create coding systems for phenotypes such as the Human Phenotype Ontology (HPO), as well as disease-phenotype annotations. We aim to support the discovery of literature-based phenotypes and integrate them into the knowledge discovery process.Results
PheneBank is a Web-portal for retrieving human phenotype-disease associations that have been text-mined from the whole of Medline. Our approach exploits state-of-the-art machine learning for concept identification by utilising an expert annotated rare disease corpus from the PMC Text Mining subset. Evaluation of the system for entities is conducted on a gold-standard corpus of rare disease sentences and for associations against the Monarch initiative data.Availability
The PheneBank Web-portal freely available at http://www.phenebank.org. Annotated Medline data is available from Zenodo at DOI: 10.5281/zenodo.1408800. Semantic annotation software is freely available for non-commercial use at GitHub: https://github.com/pilehvar/phenebank.Supplementary information
Supplementary data is available at Bioinformatics online.
SUBMITTER: Pilehvar MT
PROVIDER: S-EPMC8796364 | biostudies-literature |
REPOSITORIES: biostudies-literature
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