PheneBank: a literature-based database of phenotypes.
Bioinformatics
; 38(4): 1179-1180, 2022 01 27.
Article
en En
| MEDLINE
| ID: mdl-34788791
ABSTRACT
MOTIVATION Significant effort has been spent by curators to create coding systems for phenotypes such as the Human Phenotype Ontology, 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 utilizing 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 AND IMPLEMENTATION 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 are available at Bioinformatics online.
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Bases de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Enfermedades Raras
Límite:
Humans
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Reino Unido