메뉴 건너뛰기




Volumn 23, Issue 4, 2016, Pages 791-795

An informatics research agenda to support precision medicine: Seven key areas

(15)  Tenenbaum, Jessica D a   Avillach, Paul b   Benham Hutchins, Marge c   Breitenstein, Matthew K d   Crowgey, Erin L e   Hoffman, Mark A f   Jiang, Xia g   Madhavan, Subha h   Mattison, John E i   Nagarajan, Radhakrishnan j   Ray, Bisakha k   Shin, Dmitriy l   Visweswaran, Shyam g   Zhao, Zhongming m   Freimuth, Robert R d  


Author keywords

Biomarkers; Data sharing; Informatics; Precision medicine

Indexed keywords

DOCTOR PATIENT RELATION; HEALTH CARE PERSONNEL; HUMAN; INFORMATION SCIENCE; PERSONALIZED MEDICINE; SCIENTIST; VISION; CONFIDENTIALITY; ELECTRONIC HEALTH RECORD; INFORMATION DISSEMINATION; INFORMED CONSENT; MEDICAL INFORMATICS; MEDICAL RESEARCH; PROCEDURES; STANDARDS;

EID: 84981180095     PISSN: 10675027     EISSN: 1527974X     Source Type: Journal    
DOI: 10.1093/jamia/ocv213     Document Type: Article
Times cited : (53)

References (41)
  • 1
    • 84923762812 scopus 로고    scopus 로고
    • A new initiative on precision medicine
    • Collins FS, Varmus H. A new initiative on precision medicine. New Engl J Med. 2015;372(9):793-795.
    • (2015) New Engl J Med. , vol.372 , Issue.9 , pp. 793-795
    • Collins, F.S.1    Varmus, H.2
  • 2
    • 84887855887 scopus 로고    scopus 로고
    • Embedding cardiovascular research into practice
    • Nov 20
    • Califf RM, Platt R. Embedding cardiovascular research into practice. JAMA. 2013 Nov 20;310(9):2037-8.
    • (2013) JAMA , vol.310 , Issue.9 , pp. 2037-2038
    • Califf, R.M.1    Platt, R.2
  • 3
    • 84981252864 scopus 로고    scopus 로고
    • Every patient a subject: when personalized medicine, genomic research, and privacy collide
    • Slate.com. 30 December
    • Kulynych J, Greely H. Every patient a subject: when personalized medicine, genomic research, and privacy collide. Slate.com. 30 December 2014.
    • (2014)
    • Kulynych, J.1    Greely, H.2
  • 4
    • 84949426468 scopus 로고    scopus 로고
    • Bringing the Common Rule into the 21st Century
    • Dec 10
    • Hudson KL, Collins FS. Bringing the Common Rule into the 21st Century. N Engl J Med. 2015 Dec 10;373(24):2293-2296.
    • (2015) N Engl J Med. , vol.373 , Issue.24 , pp. 2293-2296
    • Hudson, K.L.1    Collins, F.S.2
  • 5
    • 84872459720 scopus 로고    scopus 로고
    • Identifying personal genomes by surname inference
    • Gymrek M, McGuire AL, Golan D, et al. Identifying personal genomes by surname inference. Science. 2013;339(6117):321-324.
    • (2013) Science , vol.339 , Issue.6117 , pp. 321-324
    • Gymrek, M.1    McGuire, A.L.2    Golan, D.3
  • 6
    • 84981158676 scopus 로고    scopus 로고
    • Ontological approach for the management of informed consent permissions
    • Healthcare Informatics, Imaging and Systems Biology (HISB), 2012 IEEE Second International Conference on. IEEE
    • Grando Maria Adela, Boxwala Aziz, Schwab Richard, et al. Ontological approach for the management of informed consent permissions. In Healthcare Informatics, Imaging and Systems Biology (HISB), 2012 IEEE Second International Conference on. IEEE; 2012.
    • (2012)
    • Grando, M.A.1    Boxwala, A.2    Schwab, R.3
  • 7
    • 84978044432 scopus 로고    scopus 로고
    • Developing a semantically rich ontology for the biobank-administration domain
    • Brochhausen M, Fransson MN, Kanaskar NV, et al. Developing a semantically rich ontology for the biobank-administration domain. J Biomed Semantics. 2013;4(1):23.
    • (2013) J Biomed Semantics. , vol.4 , Issue.1 , pp. 23
    • Brochhausen, M.1    Fransson, M.N.2    Kanaskar, N.V.3
  • 8
    • 84981158663 scopus 로고    scopus 로고
    • Ontology for Biobanking
    • Zheng J, Stoeckert C, Brochhausen M. Ontology for Biobanking. 2014. https://github.com/biobanking/biobanking.
    • (2014)
    • Zheng, J.1    Stoeckert, C.2    Brochhausen, M.3
  • 9
    • 84949486509 scopus 로고    scopus 로고
    • caTissue suite to OpenSpecimen: developing an extensible, open source, web-based biobanking management system
    • McIntosh LD, Sharma MK, Mulvihill D, et al. caTissue suite to OpenSpecimen: developing an extensible, open source, web-based biobanking management system. J Biomed Inform. 2015.
    • (2015) J Biomed Inform.
    • McIntosh, L.D.1    Sharma, M.K.2    Mulvihill, D.3
  • 10
    • 69549084684 scopus 로고    scopus 로고
    • The Shared Health Research Information Network (SHRINE): a prototype federated query tool for clinical data repositories
    • Weber GM, Murphy SN, McMurry AJ, et al. The Shared Health Research Information Network (SHRINE): a prototype federated query tool for clinical data repositories. J Am Med Inform Assoc. 2009;16(5):624-630.
    • (2009) J Am Med Inform Assoc. , vol.16 , Issue.5 , pp. 624-630
    • Weber, G.M.1    Murphy, S.N.2    McMurry, A.J.3
  • 11
    • 84902383532 scopus 로고    scopus 로고
    • Developing a data infrastructure for a learning health system: the PORTAL network
    • McGlynn EA, Lieu TA, Durham ML, et al. Developing a data infrastructure for a learning health system: the PORTAL network. J Am Med Inform Assoc. 2014;21(4):596-601.
    • (2014) J Am Med Inform Assoc. , vol.21 , Issue.4 , pp. 596-601
    • McGlynn, E.A.1    Lieu, T.A.2    Durham, M.L.3
  • 13
    • 84935856715 scopus 로고    scopus 로고
    • Precision medicine initiative: proposed privacy and trust principles
    • Whitehouse. Precision medicine initiative: proposed privacy and trust principles. 2015.
    • (2015)
  • 15
    • 79959811613 scopus 로고    scopus 로고
    • Meeting Report: BioSharing at ISMB 2010
    • Field D, Sansone S, Delong EF, et al. Meeting Report: BioSharing at ISMB 2010. Stand Genomic Sci. 2010;3(3):254-258.
    • (2010) Stand Genomic Sci. , vol.3 , Issue.3 , pp. 254-258
    • Field, D.1    Sansone, S.2    Delong, E.F.3
  • 16
    • 84981293385 scopus 로고    scopus 로고
    • Biomedical and healthCAre Data Discovery Index Ecosystem
    • Accessed 25, October
    • Ohno-Machado L, Alter G, Fore I, et al. Biomedical and healthCAre Data Discovery Index Ecosystem. https://biocaddie.org. Accessed 25, October 2015.
    • (2015)
    • Ohno-Machado, L.1    Alter, G.2    Fore, I.3
  • 17
    • 84964313265 scopus 로고    scopus 로고
    • A community assessment of privacy preserving techniques for human genomes
    • Jiang X, Zhao Y, Wang X, et al. A community assessment of privacy preserving techniques for human genomes. BMC Med Inform Decis Mak. 2014;14(Suppl 1):S1.
    • (2014) BMC Med Inform Decis Mak. , vol.14 , pp. S1
    • Jiang, X.1    Zhao, Y.2    Wang, X.3
  • 18
    • 84954555114 scopus 로고    scopus 로고
    • The center for expanded data annotation and retrieval
    • Musen MA, Bean CA, Cheung KH, et al. The center for expanded data annotation and retrieval. J Am Med Inform Assoc. 2015;22(6):1148-1152.
    • (2015) J Am Med Inform Assoc. , vol.22 , Issue.6 , pp. 1148-1152
    • Musen, M.A.1    Bean, C.A.2    Cheung, K.H.3
  • 19
    • 84862907574 scopus 로고    scopus 로고
    • Design considerations, architecture, and use of the Mini-Sentinel distributed data system
    • Curtis LH, Weiner MG, Boudreau DM, et al. Design considerations, architecture, and use of the Mini-Sentinel distributed data system. Pharmacoepidemiol Drug Saf. 2012;21(Suppl 1):23-31.
    • (2012) Pharmacoepidemiol Drug Saf. , vol.21 , pp. 23-31
    • Curtis, L.H.1    Weiner, M.G.2    Boudreau, D.M.3
  • 21
    • 84952053307 scopus 로고    scopus 로고
    • Observational Health Data Sciences and Informatics (OHDSI): opportunities for observational researchers
    • Hripcsak G, Duke JD, Shah NH, et al. Observational Health Data Sciences and Informatics (OHDSI): opportunities for observational researchers. Stud Health Technol Inform. 2015;216:574-578.
    • (2015) Stud Health Technol Inform. , vol.216 , pp. 574-578
    • Hripcsak, G.1    Duke, J.D.2    Shah, N.H.3
  • 22
    • 84890541415 scopus 로고    scopus 로고
    • A comparison of phenotype definitions for diabetes mellitus
    • Richesson RL, Rusincovitch SA, Wixted D, et al. A comparison of phenotype definitions for diabetes mellitus. J Am Med Inform Assoc. 2013;20(e2):e319-e326.
    • (2013) J Am Med Inform Assoc. , vol.20 , Issue.E2 , pp. E319-E326
    • Richesson, R.L.1    Rusincovitch, S.A.2    Wixted, D.3
  • 23
    • 84881328205 scopus 로고    scopus 로고
    • Validation of electronic medical record- based phenotyping algorithms: results and lessons learned from the eMERGE network
    • Newton KM, Peissig PL, Kho AN, et al. Validation of electronic medical record- based phenotyping algorithms: results and lessons learned from the eMERGE network. J Am Med Inform Assoc. 2013;20(e1):e147-e154.
    • (2013) J Am Med Inform Assoc. , vol.20 , Issue.E1 , pp. E147-E154
    • Newton, K.M.1    Peissig, P.L.2    Kho, A.N.3
  • 24
    • 84890473073 scopus 로고    scopus 로고
    • Electronic health records based phenotyping in next-generation clinical trials: a perspective from the NIH Health Care Systems Collaboratory
    • Richesson RL, Hammond WE, Nahm M, et al. Electronic health records based phenotyping in next-generation clinical trials: a perspective from the NIH Health Care Systems Collaboratory. J Am Med Inform Assoc. 2013;20(e2):e226-e231.
    • (2013) J Am Med Inform Assoc. , vol.20 , Issue.E2 , pp. E226-E231
    • Richesson, R.L.1    Hammond, W.E.2    Nahm, M.3
  • 25
    • 79959471457 scopus 로고    scopus 로고
    • Bioinformatics challenges for personalized medicine
    • Fernald GH, Capriotti E, Daneshjou R, et al. Bioinformatics challenges for personalized medicine. Bioinformatics. 2011;27(13):1741-1748.
    • (2011) Bioinformatics , vol.27 , Issue.13 , pp. 1741-1748
    • Fernald, G.H.1    Capriotti, E.2    Daneshjou, R.3
  • 26
    • 84925031191 scopus 로고    scopus 로고
    • Methods of integrating data to uncover genotype-phenotype interactions
    • Ritchie MD, Holzinger ER, Li R, et al. Methods of integrating data to uncover genotype-phenotype interactions. Nat Rev Genet. 2015;16(2):85-97.
    • (2015) Nat Rev Genet. , vol.16 , Issue.2 , pp. 85-97
    • Ritchie, M.D.1    Holzinger, E.R.2    Li, R.3
  • 27
    • 84946040296 scopus 로고    scopus 로고
    • Identification of type 2 diabetes subgroups through topological analysis of patient similarity
    • 311ra174-311ra174
    • Li L, Wei-Yi C, Benjamin SG, et al. Identification of type 2 diabetes subgroups through topological analysis of patient similarity. Sci Transl Med. 2015;7(311):311ra174-311ra174.
    • (2015) Sci Transl Med. , vol.7 , Issue.311
    • Li, L.1    Wei-Yi, C.2    Benjamin, S.G.3
  • 29
    • 0037012339 scopus 로고    scopus 로고
    • socioeconomic status, and breast cancer treatment and survival
    • Bradley CJ, Given CW, Roberts C. Race, socioeconomic status, and breast cancer treatment and survival. J Natl Cancer Inst. 2002;94(7):490-496.
    • (2002) J Natl Cancer Inst. , vol.94 , Issue.7 , pp. 490-496
    • Bradley, C.J.1    Given, C.W.2    Roberts, C.R.3
  • 30
    • 84925400314 scopus 로고    scopus 로고
    • Cutting the Gordian helix - regulating genomic testing in the era of precision medicine
    • Lander ES. Cutting the Gordian helix - regulating genomic testing in the era of precision medicine. N Engl J Med. 2015;372(13):1185-1186.
    • (2015) N Engl J Med. , vol.372 , Issue.13 , pp. 1185-1186
    • Lander, E.S.1
  • 31
    • 84923852790 scopus 로고    scopus 로고
    • Clinical actionability enhanced through deep targeted sequencing of solid tumors
    • Chen K, Meric-Bernstam F, Zhao H, et al. Clinical actionability enhanced through deep targeted sequencing of solid tumors. Clin Chem. 2015;61(3): 544-553.
    • (2015) Clin Chem. , vol.61 , Issue.3 , pp. 544-553
    • Chen, K.1    Meric-Bernstam, F.2    Zhao, H.3
  • 32
    • 84942117421 scopus 로고    scopus 로고
    • A framework for genomic biomarker actionability and its use in clinical decision making
    • Vidwans SJ, Turski ML, Janku F, et al. A framework for genomic biomarker actionability and its use in clinical decision making. Oncoscience. 2014;1(10):614-623.
    • (2014) Oncoscience , vol.1 , Issue.10 , pp. 614-623
    • Vidwans, S.J.1    Turski, M.L.2    Janku, F.3
  • 34
    • 84930526399 scopus 로고    scopus 로고
    • ClinGen - the Clinical Genome Resource
    • Rehm HL, Berg JS, Brooks LD, et al. ClinGen - the Clinical Genome Resource. N Engl J Med. 2015;372(23):2235-2242.
    • (2015) N Engl J Med. , vol.372 , Issue.23 , pp. 2235-2242
    • Rehm, H.L.1    Berg, J.S.2    Brooks, L.D.3
  • 35
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
    • (2015) Genet Med. , vol.17 , Issue.5 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 36
    • 84882310107 scopus 로고    scopus 로고
    • The Taverna workflow suite: designing and executing workflows of Web Services on the desktop, web or in the cloud
    • Wolstencroft K, Haines R, Fellows D, et al. The Taverna workflow suite: designing and executing workflows of Web Services on the desktop, web or in the cloud. Nucleic Acids Res. 2013;41(Web Server issue):W557-W561.
    • (2013) Nucleic Acids Res. , vol.41 , Issue.WEB SERVER ISSUE , pp. W557-W561
    • Wolstencroft, K.1    Haines, R.2    Fellows, D.3
  • 37
    • 84885012223 scopus 로고    scopus 로고
    • Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome Atlas
    • Omberg L, Ellrott K, Yuan Y, et al. Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome Atlas. Nat Genet. 2013;45(10):1121-1126.
    • (2013) Nat Genet. , vol.45 , Issue.10 , pp. 1121-1126
    • Omberg, L.1    Ellrott, K.2    Yuan, Y.3
  • 38
    • 78149299776 scopus 로고    scopus 로고
    • In silico research in the era of cloud computing
    • Dudley JT, Butte AJ. In silico research in the era of cloud computing. Nat Biotechnol. 2010;28(11):1181-1185.
    • (2010) Nat Biotechnol. , vol.28 , Issue.11 , pp. 1181-1185
    • Dudley, J.T.1    Butte, A.J.2
  • 39
    • 84866593873 scopus 로고    scopus 로고
    • Pharmacogenomics and individualized medicine: translating science into practice
    • Crews KR, Hicks JK, Pui CH, et al. Pharmacogenomics and individualized medicine: translating science into practice. Clin Pharmacol Ther. 2012;92(4):467-475.
    • (2012) Clin Pharmacol Ther. , vol.92 , Issue.4 , pp. 467-475
    • Crews, K.R.1    Hicks, J.K.2    Pui, C.H.3
  • 40
    • 84861868693 scopus 로고    scopus 로고
    • Technical desiderata for the integration of genomic data into Electronic Health Records
    • Masys DR, Jarvik GP, Abernethy NF, et al. Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform. 2012;45(3):419-422.
    • (2012) J Biomed Inform. , vol.45 , Issue.3 , pp. 419-422
    • Masys, D.R.1    Jarvik, G.P.2    Abernethy, N.F.3
  • 41
    • 84981250306 scopus 로고    scopus 로고
    • Accessed 24, November 2015.
    • Ancestry. AncestryHealth. 2015. https://health.ancestry.com. Accessed 24, November 2015.
    • (2015)


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.