GEN-KnowRD: Reframing AI for Rare Disease Recognition.

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Bibliographic Details
Title: GEN-KnowRD: Reframing AI for Rare Disease Recognition.
Authors: Yan C; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Su WC; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Xin Y; Department of Computer Science, Vanderbilt University, Nashville, TN, USA., Grabowska ME; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Kerchberger VE; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Borza VA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Wang J; McWilliams School of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA., Wang L; McWilliams School of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA., Li R; McWilliams School of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA., Lynn J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Dickson AL; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Shyr C; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Feng Q; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Stein CM; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Wang K; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, PA, USA., Embi PJ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Malin BA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Computer Science, Vanderbilt University, Nashville, TN, USA.; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA., Liu H; McWilliams School of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA., Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Computer Science, Vanderbilt University, Nashville, TN, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 03. Date of Electronic Publication: 2026 Mar 03.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.64898/2026.03.02.26347469