Defining a comprehensive verotype using electronic health records for personalized medicine

被引：50
作者：
Boland, Mary Regina [1 ]
Hripcsak, George [1 ]
Shen, Yufeng [1 ,2 ]
Chung, Wendy K. [3 ,4 ,5 ]
Weng, Chunhua [1 ,5 ]
机构：
[1] Columbia Univ, Dept Biomed Informat, New York, NY 10032 USA
[2] Columbia Univ, Dept Syst Biol, New York, NY 10032 USA
[3] Columbia Univ, Dept Pediat, New York, NY 10032 USA
[4] Columbia Univ, Dept Med, New York, NY 10032 USA
[5] Columbia Univ, Irving Inst Clin & Translat Res, New York, NY 10032 USA
来源：
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION | 2013年 / 20卷 / E2期
关键词：
AMYOTROPHIC-LATERAL-SCLEROSIS; GENE-EXPRESSION SIGNATURES; PARKINSONS-DISEASE; NETWORK MEDICINE; BREAST-CANCER; EYE COLOR; SMOKING STATUS; SUBTYPES; ENDOPHENOTYPES; IDENTIFICATION;
D O I：
10.1136/amiajnl-2013-001932
中图分类号：
TP [自动化技术、计算机技术];
学科分类号：
0812 ;
摘要：
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.
引用
收藏
页码：E232 / E238
页数：7
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