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PheneBank: a literature-based database of phenotypes.


ABSTRACT: 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. 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. 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 data is available at Bioinformatics online.

SUBMITTER: Pilehvar MT 

PROVIDER: S-EPMC8796364 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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PheneBank: a literature-based database of phenotypes.

Pilehvar Mohammad Taher MT   Bernard Adam A   Smedley Damian D   Collier Nigel N  

Bioinformatics (Oxford, England) 20220101 4


<h4>Motivation</h4>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.<h4>Results</h4>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 le  ...[more]

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