Publications by authors named "Ernest van Ophuizen"
Article Synopsis
- The paper evaluates three semantic knowledge sources (UMLS, FMA-OBO, WordNet) for predicting synonymous anatomical terms between mice and zebrafish.
- Using these specialized knowledge sources leads to highly accurate predictions, which were confirmed through manual curation.
- The authors suggest that combining these sources improves results and can enable reliable ontology mappings with little human oversight.
Unambiguous and correct sequence variant descriptions are of utmost importance, not in the least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We developed the Mutation Analyzer (Mutalyzer) sequence variation nomenclature checker (www.lovd.
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