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An algorithm to identify patients aged 0–3 with rare genetic disorders

Abstract Background With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosis coding, as well as heterogeneity in clinical sym...

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Autors principals: Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li
Format: Artigo
Idioma:Inglês
Publicat: BMC 2024-05-01
Col·lecció:Orphanet Journal of Rare Diseases
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Accés en línia:https://doi.org/10.1186/s13023-024-03188-9
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