Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

BACKGROUND: Although many efforts have been made to develop comprehensive disease resources that capture rare disease information for the purpose of clinical decision making and education, there is no standardized protocol for defining and harmonizing rare diseases across multiple resources. This in...

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Detalles Bibliográficos
Autores principales: Zhu, Qian, Nguyen, Dac-Trung, Alyea, Gioconda, Hanson, Karen, Sid, Eric, Pariser, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2020
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568218/
https://www.ncbi.nlm.nih.gov/pubmed/33006565
http://dx.doi.org/10.2196/18395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568218/
https://www.ncbi.nlm.nih.gov/pubmed/33006565
http://dx.doi.org/10.2196/18395

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