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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Detaylı Bibliyografya
Yayımlandı:NAR Genom Bioinform
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Methart
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7252576/
https://ncbi.nlm.nih.gov/pubmed/32500119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nargab/lqaa032
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