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Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study

BACKGROUND: Up to 8% of the general population have a rare disease, however, for lack of ICD-10 codes for many rare diseases, this population cannot be generically identified in large medical datasets. We aimed to explore frequency-based rare diagnoses (FB-RDx) as a novel method exploring rare disea...

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Detalles Bibliográficos
Autores principales: Tröster, Thomas S., von Wyl, Viktor, Beeler, Patrick E., Dressel, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276905/
https://www.ncbi.nlm.nih.gov/pubmed/37330464
http://dx.doi.org/10.1186/s12874-023-01972-y