ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2022
Automated Identification of Missing IS-A Relations in the Human Phenotype Ontology.
Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- An Automated Approach for Identifying Erroneous IS-A Relations in SNOMED CT.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2024Article
- Identifying Missing IS-A Relations in SNOMED CT with Fine-Tuned Pre-trained Language Models and Non-lattice Subgraphs.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
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Authors and funding
6 authors.
Funding
Abstract
Auditing the Human Phenotype Ontology (HPO) is necessary to provide accurate terminology for its use in clinical research. We investigate an approach leveraging the lexical features of concepts in HPO to identify missing IS-A relations among HPO concepts. We first model the names of HPO concepts as sets of words in lower case. Then, we generate two types of concept-pairs which have at least a single common word: (1) Linked concept-pairs generated from concept-pairs having an IS-A relation; (2) Unlinked concept-pairs generated from concept-pairs without an IS- A relation. Concept-pairs generate Derived Term Pairs (DTPs) emphasizing unique lexical information of each concept. If a linked concept-pair and an unlinked concept-pair generate the same DTP, then we suggest a potential missing IS-A relation among the unlinked concept-pair. Applying our approach to the 2022-02-14 release of HPO, we uncovered 2,516 potential missing IS-A relations in HPO. We validated 59 missing IS-A relations leveraging the Unified Medical Language System (UMLS) by mapping the concept-pair to UMLS concepts and verifying whether UMLS records an IS-A relation between the pair of concepts.
Indexed as
Identifiers
37128366PMC10148310What 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.