Translational Bioinformatics: Biobanks in the Precision Medicine Era

被引：0

作者：

Ritchie, Marylyn D. ^{[1
,2
]}

Moore, Jason H. ^{[3
,4
,5
]}

Kim, Ju Han ^{[6
]}

机构：

[1] Univ Penn, Perelman Sch Med, Dept Genet, A301 Richards Bldg,3700 Hamilton Walk, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Inst Biomed Informat, A301 Richards Bldg,3700 Hamilton Walk, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Dept Biostat Epidemiol & Informat, D202 Richards Bldg,3700 Hamilton Walk, Philadelphia, PA 19104 USA

[4] Univ Penn, Perelman Sch Med, Dept Genet, D202 Richards Bldg,3700 Hamilton Walk, Philadelphia, PA 19104 USA

[5] Univ Penn, Perelman Sch Med, Inst Biomed Informat, D202 Richards Bldg,3700 Hamilton Walk, Philadelphia, PA 19104 USA

[6] Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Biomed Sci Bldg 117,103 Daehakro, Seoul 110799, South Korea

来源：

PACIFIC SYMPOSIUM ON BIOCOMPUTING 2020 | 2020年

关键词：

translational bioinformatics; precision medicine; pharmacogenomics; artificial intelligence; machine learning; electronic health records; biobank; ELECTRONIC HEALTH RECORDS;

D O I：

暂无

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Translational bioinformatics (TBI) is focused on the integration of biomedical data science and informatics. This combination is extremely powerful for scientific discovery as well as translation into clinical practice. Several topics where TBI research is at the leading edge are 1) the use of large-scale biobanks linked to electronic health records, 2) pharmacogenomics, and 3) artificial intelligence and machine learning. This perspective discusses these three topics and points to the important elements for driving precision medicine into the future.

引用

页码：743 / 747

页数：5

共 10 条

[1]

[Anonymous], 2017, USF HLTH ONL

[2] The Genome of the Netherlands: design, and project goals [J].

Boomsma, Dorret I. ;

Wijmenga, Cisca ;

Slagboom, Eline P. ;

Swertz, Morris A. ;

Karssen, Lennart C. ;

Abdellaoui, Abdel ;

Ye, Kai ;

Guryev, Victor ;

Vermaat, Martijn ;

van Dijk, Freerk ;

Francioli, Laurent C. ;

Hottenga, Jouke Jan ;

Laros, Jeroen F. J. ;

Li, Qibin ;

Li, Yingrui ;

Cao, Hongzhi ;

Chen, Ruoyan ;

Du, Yuanping ;

Li, Ning ;

Cao, Sujie ;

van Setten, Jessica ;

Menelaou, Androniki ;

Pulit, Sara L. ;

Hehir-Kwa, Jayne Y. ;

Beekman, Marian ;

Elbers, Clara C. ;

Byelas, Heorhiy ;

de Craen, Anton J. M. ;

Deelen, Patrick ;

Dijkstra, Martijn ;

den Dunnen, Johan T. ;

de Knijff, Peter ;

Houwing-Duistermaat, Jeanine ;

Koval, Vyacheslav ;

Estrada, Karol ;

Hofman, Albert ;

Kanterakis, Alexandros ;

van Enckevort, David ;

Mai, Hailiang ;

Kattenberg, Mathijs ;

van Leeuwen, Elisabeth M. ;

Neerincx, Pieter B. T. ;

Oostra, Ben ;

Rivadeneira, Fernanodo ;

Suchiman, Eka H. D. ;

Uitterlinden, Andre G. ;

Willemsen, Gonneke ;

Wolffenbuttel, Bruce H. ;

Wang, Jun ;

de Bakker, Paul I. W. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (02) :221-227

[3] Using Electronic Health Records for Population Health Research: A Review of Methods and Applications [J].

Casey, Joan A. ;

Schwartz, Brian S. ;

Stewart, Walter F. ;

Adler, Nancy E. .

ANNUAL REVIEW OF PUBLIC HEALTH, VOL 37, 2016, 37 :61-81

[4] The Evolution of the Electronic Health Record [J].

Doyle-Lindrud, Susan .

CLINICAL JOURNAL OF ONCOLOGY NURSING, 2015, 19 (02) :153-154

[5] Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population [J].

Fry, Anna ;

Littlejohns, Thomas J. ;

Sudlow, Cathie ;

Doherty, Nicola ;

Adamska, Ligia ;

Sprosen, Tim ;

Collins, Rory ;

Allen, Naomi E. .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2017, 186 (09) :1026-1034

[6] Definition, structure, content, use and impacts of electronic health records:: A review of the research literature [J].

Hayrinen, Kristiina ;

Saranto, Kaija ;

Nykanen, Pirkko .

INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS, 2008, 77 (05) :291-304

[7] Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium [J].

Kho, Abel N. ;

Pacheco, Jennifer A. ;

Peissig, Peggy L. ;

Rasmussen, Luke ;

Newton, Katherine M. ;

Weston, Noah ;

Crane, Paul K. ;

Pathak, Jyotishman ;

Chute, Christopher G. ;

Bielinski, Suzette J. ;

Kullo, Iftikhar J. ;

Li, Rongling ;

Manolio, Teri A. ;

Chisholm, Rex L. ;

Denny, Joshua C. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (79)

[8] Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record [J].

Ritchie, Marylyn D. ;

Denny, Joshua C. ;

Crawford, Dana C. ;

Ramirez, Andrea H. ;

Weiner, Justin B. ;

Pulley, Jill M. ;

Basford, Melissa A. ;

Brown-Gentry, Kristin ;

Balser, Jeffrey R. ;

Masys, Daniel R. ;

Haines, Jonathan L. ;

Roden, Dan M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (04) :560-572

[9] Using Electronic Patient Records to Discover Disease Correlations and Stratify Patient Cohorts [J].

Roque, Francisco S. ;

Jensen, Peter B. ;

Schmock, Henriette ;

Dalgaard, Marlene ;

Andreatta, Massimo ;

Hansen, Thomas ;

Soeby, Karen ;

Bredkjaer, Soren ;

Juul, Anders ;

Werge, Thomas ;

Jensen, Lars J. ;

Brunak, Soren .

PLOS COMPUTATIONAL BIOLOGY, 2011, 7 (08)

[10] The Emerging Role of Electronic Medical Records in Pharmacogenomics [J].

Wilke, R. A. ;

Xu, H. ;

Denny, J. C. ;

Roden, D. M. ;

Krauss, R. M. ;

McCarty, C. A. ;

Davis, R. L. ;

Skaar, T. ;

Lamba, J. ;

Savova, G. .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2011, 89 (03) :379-386

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