ArticleStudies in health technology and informatics2017
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology.
Article in Studies in health technology and informatics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- A model of integrating convolution and BiGRU dual-channel mechanism for Chinese medical text classifications.PloS one · 2023Article
- Towards User-centered Corpus Development: Lessons Learnt from Designing and Developing MedTator.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2022Article
- Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.Epilepsia · 2021Article
- Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.Methods of information in medicine · 2020Article
- Article
- Detection of Surgical Site Infection Utilizing Automated Feature Generation in Clinical Notes.Journal of healthcare informatics research · 2019Article
- HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.Journal of biomedical informatics · 2019Article
- Rare disease knowledge enrichment through a data-driven approach.BMC medical informatics and decision making · 2019Article
- Clinical genome sequencing in an unbiased pediatric cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A clinical text classification paradigm using weak supervision and deep representation.BMC medical informatics and decision making · 2019Article
- Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches.JMIR medical informatics · 2018Article
- Incorporating Knowledge-Driven Insights into a Collaborative Filtering Model to Facilitate the Differential Diagnosis of Rare Diseases.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2018Article
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Authors and funding
3 authors.
Funding
Abstract
Phenotypes are defined as observable characteristics and clinical traits of diseases and organisms. As connectors between medical experimental findings and clinical practices, phenotypes play vital roles in translational medicine. To facilitate the translation between genotype and phenotype, Human Phenotype Ontology (HPO) was developed as a semantically computable vocabulary to capture phenotypic abnormalities found in human diseases discovered through biomedical research. The use of HPO in annotating phenotypic information in clinical practice remains unexplored. In this study, we investigated the use of HPO to annotate phenotypic information in clinical domain by leveraging a corpus of 12.8 million clinical notes created from 2010 to 2015 for 729 thousand patients at Mayo Clinic Rochester campus and assessed the distribution information of HPO terms in the corpus. We also analyzed the distributional difference of HPO terms among demographic groups. We further demonstrated the potential application of the annotated corpus to support knowledge discovery in precision medicine through Wilson's Disease.
Indexed as
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29295162PMC7466871What OpenQuestion holds
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.