| Literature DB >> 24001516 |
Mary Regina Boland1, George Hripcsak, Yufeng Shen, Wendy K Chung, Chunhua Weng.
Abstract
The burgeoning adoption of electronic health records (EHR) introduces a golden opportunity for studying individual manifestations of myriad diseases, which is called 'EHR phenotyping'. In this paper, we break down this concept by: relating it to phenotype definitions from Johannsen; comparing it to cohort identification and disease subtyping; introducing a new concept called 'verotype' (Latin: vere = true, actually) to represent the 'true' population of similar patients for treatment purposes through the integration of genotype, phenotype, and disease subtype (eg, specific glucose value pattern in patients with diabetes) information; analyzing the value of the 'verotype' concept for personalized medicine; and outlining the potential for using network-based approaches to reverse engineer clinical disease subtypes.Entities:
Keywords: Electronic Health Records; Genetics; Genotype; Phenotype
Mesh:
Substances:
Year: 2013 PMID: 24001516 PMCID: PMC3861934 DOI: 10.1136/amiajnl-2013-001932
Source DB: PubMed Journal: J Am Med Inform Assoc ISSN: 1067-5027 Impact factor: 4.497