Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes

Enabling discovery across the spectrum of rare and common diseases requires the integration of biological knowledge with clinical data; however, differences in terminologies present a major barrier. For example, the Human Phenotype Ontology (HPO) is the primary vocabulary for describing features of...

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Detalles Bibliográficos
Autores principales: McArthur, Evonne, Bastarache, Lisa, Capra, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976874/
https://www.ncbi.nlm.nih.gov/pubmed/36875690
http://dx.doi.org/10.1093/jamiaopen/ooad007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976874/
https://www.ncbi.nlm.nih.gov/pubmed/36875690
http://dx.doi.org/10.1093/jamiaopen/ooad007

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