Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.

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Title: Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.
Authors: Kaster L; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Hillis E; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Oh IY; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Cordell EC; Department of Neurology, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Foraker RE; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Lai AM; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Morris SM; Center for Autism Services, Science, and Innovation (CASSI), Kennedy Krieger Institute, Baltimore, MD 21211, United States., Gutmann DH; Department of Neurology, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Payne PRO; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States., Gupta A; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.
Source: Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2025 Nov 01; Vol. 32 (11), pp. 1663-1673.
Publication Type: Journal Article; Comparative Study
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN: 1527-974X (Electronic) Linking ISSN: 10675027 NLM ISO Abbreviation: J Am Med Inform Assoc Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.
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  Data: <searchLink fieldCode="AU" term="%22Kaster+L%22">Kaster L</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Hillis+E%22">Hillis E</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Oh+IY%22">Oh IY</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Cordell+EC%22">Cordell EC</searchLink>; Department of Neurology, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Foraker+RE%22">Foraker RE</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Lai+AM%22">Lai AM</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Morris+SM%22">Morris SM</searchLink>; Center for Autism Services, Science, and Innovation (CASSI), Kennedy Krieger Institute, Baltimore, MD 21211, United States.<br /><searchLink fieldCode="AU" term="%22Gutmann+DH%22">Gutmann DH</searchLink>; Department of Neurology, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Payne+PRO%22">Payne PRO</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Gupta+A%22">Gupta A</searchLink>; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St Louis, St Louis, MO 63110, United States.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9430800 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1527-974X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210675027%22">10675027 </searchLink><i>NLM ISO Abbreviation: </i>J Am Med Inform Assoc <i>Subsets: </i>MEDLINE
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        Value: 10.1093/jamia/ocaf155
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      – Code: eng
        Text: English
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      – TitleFull: Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.
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              Text: 2025 Nov 01
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