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

页码：E232 / E238

页数：7

共 91 条

[51] Marked genomic differences characterize primary and secondary glioblastoma subtypes and identify two distinct molecular and clinical secondary glioblastoma entities [J].

Maher, Elizabeth A. ;

Brennan, Cameron ;

Wen, Patrick Y. ;

Durso, Laura ;

Ligon, Keith L. ;

Richardson, Aaron ;

Khatry, Deepak ;

Feng, Bin ;

Sinha, Raktim ;

Louis, David N. ;

Quackenbush, John ;

Black, Peter McL. ;

Chin, Lynda ;

DePinho, Ronald A. .

CANCER RESEARCH, 2006, 66 (23) :11502-11513

[52] Parkinson's disease subtypes: lost in translation? [J].

Marras, Connie ;

Lang, Anthony .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2013, 84 (04) :409-415

[53]

McCormick RK, 2007, ALTERN MED REV, V12, P113

[54]

Mendel G., 1822, Versuche uber Pflanzen-Hybriden, DOI [DOI 10.5962/BHL.TITLE.61004, 10.5962/bhl.title.61004]

[55]

Mendel G., 1996, EXPT PLANT HYBRIDIZA

[56] Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis [J].

Murphy, Jennifer ;

Henry, Roland ;

Lomen-Hoerth, Catherine .

ARCHIVES OF NEUROLOGY, 2007, 64 (03) :330-334

[57]

National Research Council (US) Committee on A Framework for Developing a New Taxonomy of Disease, 2011, PREC MED BUILD KNOWL

[58] Development and Validation of an Electronic Health Record-Based Chronic Kidney Disease Registry [J].

Navaneethan, Sankar D. ;

Jolly, Stacey E. ;

Schold, Jesse D. ;

Arrigain, Susana ;

Saupe, Well ;

Sharp, John ;

Lyons, Jennifer ;

Simon, James F. ;

Schreiber, Martin J., Jr. ;

Jain, Anil ;

Nally, Joseph V., Jr. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 6 (01) :40-49

[59] Towards integrated clinico-genomic models for personalized medicine: combining gene expression signatures and clinical factors in breast cancer outcomes prediction [J].

Nevins, JR ;

Huang, ES ;

Dressman, H ;

Pittman, J ;

Huang, AT ;

West, M .

HUMAN MOLECULAR GENETICS, 2003, 12 :R153-R157

[60] Genetic determinants of cancer metastasis [J].

Nguyen, Don X. ;

Massague, Joan .

NATURE REVIEWS GENETICS, 2007, 8 (05) :341-352

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