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Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience

BACKGROUND: Systematic study of clinical phenotypes is important for a better understanding of the genetic basis of human diseases and more effective gene-based disease management. A key aspect in facilitating such studies requires standardized representation of the phenotype data using common data...

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Detalhes bibliográficos
Main Authors: Pathak, Jyotishman, Wang, Janey, Kashyap, Sudha, Basford, Melissa, Li, Rongling, Masys, Daniel R, Chute, Christopher G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3128396/
https://ncbi.nlm.nih.gov/pubmed/21597104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/amiajnl-2010-000061
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