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J Am Med Inform Assoc. 2013 Dec;20(e2):e232-8. doi: 10.1136/amiajnl-2013-001932. Epub 2013 Sep 3.

Defining a comprehensive verotype using electronic health records for personalized medicine.

Author information

1
Department of Biomedical Informatics, Columbia University, New York, New York, USA.

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.

KEYWORDS:

Electronic Health Records; Genetics; Genotype; Phenotype

PMID:
24001516
PMCID:
PMC3861934
DOI:
10.1136/amiajnl-2013-001932
[Indexed for MEDLINE]
Free PMC Article

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