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
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
相关论文
共 91 条
  • [1] Population Physiology: Leveraging Electronic Health Record Data to Understand Human Endocrine Dynamics
    Albers, D. J.
    Hripcsak, George
    Schmidt, Michael
    [J]. PLOS ONE, 2012, 7 (12):
  • [2] Almasy L, 2001, AM J MED GENET, V105, P42, DOI 10.1002/1096-8628(20010108)105:1<42::AID-AJMG1055>3.0.CO
  • [3] 2-9
  • [4] Genetic Mapping in Human Disease
    Altshuler, David
    Daly, Mark J.
    Lander, Eric S.
    [J]. SCIENCE, 2008, 322 (5903) : 881 - 888
  • [5] Enterotypes of the human gut microbiome
    Arumugam, Manimozhiyan
    Raes, Jeroen
    Pelletier, Eric
    Le Paslier, Denis
    Yamada, Takuji
    Mende, Daniel R.
    Fernandes, Gabriel R.
    Tap, Julien
    Bruls, Thomas
    Batto, Jean-Michel
    Bertalan, Marcelo
    Borruel, Natalia
    Casellas, Francesc
    Fernandez, Leyden
    Gautier, Laurent
    Hansen, Torben
    Hattori, Masahira
    Hayashi, Tetsuya
    Kleerebezem, Michiel
    Kurokawa, Ken
    Leclerc, Marion
    Levenez, Florence
    Manichanh, Chaysavanh
    Nielsen, H. Bjorn
    Nielsen, Trine
    Pons, Nicolas
    Poulain, Julie
    Qin, Junjie
    Sicheritz-Ponten, Thomas
    Tims, Sebastian
    Torrents, David
    Ugarte, Edgardo
    Zoetendal, Erwin G.
    Wang, Jun
    Guarner, Francisco
    Pedersen, Oluf
    de Vos, Willem M.
    Brunak, Soren
    Dore, Joel
    Weissenbach, Jean
    Ehrlich, S. Dusko
    Bork, Peer
    [J]. NATURE, 2011, 473 (7346) : 174 - 180
  • [6] Deep phenotyping to predict live birth outcomes in in vitro fertilization
    Banerjee, Prajna
    Choi, Bokyung
    Shahine, Lora K.
    Jun, Sunny H.
    O'Leary, Kathleen
    Lathi, Ruth B.
    Westphal, Lynn M.
    Wong, Wing H.
    Yao, Mylene W. M.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (31) : 13570 - 13575
  • [7] Network medicine -: From obesity to the "Diseasome''
    Barabasi, Albert-Laszlo
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (04) : 404 - 407
  • [8] Network medicine: a network-based approach to human disease
    Barabasi, Albert-Laszlo
    Gulbahce, Natali
    Loscalzo, Joseph
    [J]. NATURE REVIEWS GENETICS, 2011, 12 (01) : 56 - 68
  • [9] Reverse engineering of regulatory networks in human B cells
    Basso, K
    Margolin, AA
    Stolovitzky, G
    Klein, U
    Dalla-Favera, R
    Califano, A
    [J]. NATURE GENETICS, 2005, 37 (04) : 382 - 390
  • [10] Network theory to understand microarray studies of complex diseases
    Benson, Mikael
    Breitling, Rainer
    [J]. CURRENT MOLECULAR MEDICINE, 2006, 6 (06) : 695 - 701