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JAMIA
2011

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

7 years 11 months ago
Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network
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 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 as how their adoption in large-scale epidemiological and genome-wide studies can significantly facilitate cross-study analysis. Methods The authors mapped phenotype data dictionaries from five different eMERGE (Electronic Medical Records and Genomics) Network sites studying multiple diseases such as peripheral arterial disease and type 2 diabetes. For mapping, standardized terminological and metadata repository resources, such as the caDSR (Cancer Data Standards Registry and Repository) and...
Jyotishman Pathak, Janey Wang, Sudha Kashyap, Meli
Added 15 Sep 2011
Updated 15 Sep 2011
Type Journal
Year 2011
Where JAMIA
Authors Jyotishman Pathak, Janey Wang, Sudha Kashyap, Melissa A. Basford, Rongling Li, Daniel R. Masys, Christopher G. Chute
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