Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic settings to aid in the characterization of patient phenotypes. The HPO annotation database is updated frequently and can provide detailed phenotype knowledge on various human diseases, and many HPO terms are now mapped to candi...

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Detalles Bibliográficos
Autores principales: Zhao, Mengge, Havrilla, James M, Fang, Li, Chen, Ying, Peng, Jacqueline, Liu, Cong, Wu, Chao, Sarmady, Mahdi, Botas, Pablo, Isla, Julián, Lyon, Gholson J, Weng, Chunhua, Wang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Methart
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252576/
https://www.ncbi.nlm.nih.gov/pubmed/32500119
http://dx.doi.org/10.1093/nargab/lqaa032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252576/
https://www.ncbi.nlm.nih.gov/pubmed/32500119
http://dx.doi.org/10.1093/nargab/lqaa032

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