Academic Journal
PheneBank: a literature-based database of phenotypes.
| العنوان: | PheneBank: a literature-based database of phenotypes. |
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| المؤلفون: | Pilehvar, MT, Bernard, A, Smedley, D, Collier, N |
| سنة النشر: | 2022 |
| المجموعة: | Queen Mary University of London: Queen Mary Research Online (QMRO) |
| مصطلحات موضوعية: | Humans, Rare Diseases, Software, Algorithms, Data Mining, Phenotype |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 1179 - 1180 |
| اللغة: | English |
| Relation: | Bioinformatics; https://qmro.qmul.ac.uk/xmlui/handle/123456789/84822 |
| DOI: | 10.1093/bioinformatics/btab740 |
| الاتاحة: | https://qmro.qmul.ac.uk/xmlui/handle/123456789/84822 https://doi.org/10.1093/bioinformatics/btab740 |
| Rights: | Attribution 3.0 United States ; http://creativecommons.org/licenses/by/3.0/us/ |
| رقم الانضمام: | edsbas.D8E2072F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/bioinformatics/btab740 |
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