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Rare disease knowledge enrichment through a data-driven approach

BACKGROUND: Existing resources to assist the diagnosis of rare diseases are usually curated from the literature that can be limited for clinical use. It often takes substantial effort before the suspicion of a rare disease is even raised to utilize those resources. The primary goal of this study was...

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Detalles Bibliográficos
Autores principales: Shen, Feichen, Zhao, Yiqing, Wang, Liwei, Mojarad, Majid Rastegar, Wang, Yanshan, Liu, Sijia, Liu, Hongfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376651/
https://www.ncbi.nlm.nih.gov/pubmed/30764825
http://dx.doi.org/10.1186/s12911-019-0752-9