Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience.
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 elements (CDEs) and controlled biomedical vocabularies. In this study, the authors analyzed how a limited subset of phenotypic data is amenable to common definition and standardized collection, as well [...]
Author(s): Pathak, Jyotishman, Wang, Janey, Kashyap, Sudha, Basford, Melissa, Li, Rongling, Masys, Daniel R, Chute, Christopher G
DOI: 10.1136/amiajnl-2010-000061