期刊
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
卷 20, 期 E2, 页码 E232-E238出版社
OXFORD UNIV PRESS
DOI: 10.1136/amiajnl-2013-001932
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资金
- National Library of Medicine [R01LM009886]
- Human Genome Research Institute [U01 HG006380]
- National Center for Advancing Translational Sciences [UL1 TR000040]
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.
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