ArticleJournal of biomedical informatics2022
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.
Article in Journal of biomedical informatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Computable longitudinal patient journeys from structured and unstructured EHR data.Nature medicine · 2026Article
- Review
- Automated phenotyping of ophthalmologic diseases from routine medical records using small language models and the human phenotype ontology (HPO).Scientific reports · 2026Article
- Generative Models and Sentence Transformers for the Recognition and Normalization of Continuous and Discontinuous Phenotype Mentions: Model Development and Evaluation.JMIR medical informatics · 2025Article
- Cancer-Alterome: a literature-mined resource for regulatory events caused by genetic alterations in cancer.Scientific data · 2024Article
- PubMed and beyond: biomedical literature search in the age of artificial intelligence.EBioMedicine · 2024Review
- Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT.Patterns (New York, N.Y.) · 2024Article
- Enhancing Phenotype Recognition in Clinical Notes Using Large Language Models: PhenoBCBERT and PhenoGPT.ArXiv · 2023Article
- Knowledge Representation and Management 2022: Findings in Ontology Development and Applications.Yearbook of medical informatics · 2023Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
The study aims at developing a neural network model to improve the performance of Human Phenotype Ontology (HPO) concept recognition tools. We used the terms, definitions, and comments about the phenotypic concepts in the HPO database to train our model. The document to be analyzed is first split into sentences and annotated with a base method to generate candidate concepts. The sentences, along with the candidate concepts, are then fed into the pre-trained model for re-ranking. Our model comprises the pre-trained BlueBERT and a feature selection module, followed by a contrastive loss. We re-ranked the results generated by three robust HPO annotation tools and compared the performance against most of the existing approaches. The experimental results show that our model can improve the performance of the existing methods. Significantly, it boosted 3.0% and 5.6% in F1 score on the two evaluated datasets compared with the base methods. It removed more than 80% of the false positives predicted by the base methods, resulting in up to 18% improvement in precision. Our model utilizes the descriptive data in the ontology and the contextual information in the sentences for re-ranking. The results indicate that the additional information and the re-ranking model can significantly enhance the precision of HPO concept recognition compared with the base method.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.