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Development of informatics infrastructure for conducting clinical and translational research, and genome-phenome correlation using phenotype data derived from electronic medical records.


Dr. Daniel R. Masys is Affiliate (volunteer) Professor, Biomedical and Heath Informatics. He joined BIME after retiring as Professor and Chair of the Department of Biomedical Informatics and Professor of Medicine at the Vanderbilt University School of Medicine in 2011. An honors graduate of Princeton University and the Ohio State University College of Medicine, he completed postgraduate training in Internal Medicine, Hematology and Medical Oncology at the University of California, San Diego, and the Naval Regional Medical Center, San Diego.  He served as Chief of the International Cancer Research Data Bank of the National Cancer Institute, National Institutes of Health, and was also Director of the Lister Hill National Center for Biomedical Communications, which is a computer research and development division of the National Library of Medicine.  He also served as Director of Biomedical Informatics at the University of California, San Diego School of Medicine, Director of the UCSD Human Research Protections Program, and Professor of Medicine.

Dr. Masys is an elected member of the National Academy of Medicine (formerly the Institute of Medicine of the National Academy of Sciences).  He is a Diplomate of the American Board of Internal Medicine in Medicine, Hematology, and Medical Oncology.  He is a Fellow of the American College of Physicians, and Fellow and Past President of the American College of Medical Informatics.


Dr. Masys’ professional interests include development of informatics infrastructure for conducting clinical and translational research, genome-phenome correlation using phenotype data derived from electronic medical records data, and approaches to incorporating genomic data effectively into clinical systems.

Representative publications:

  • Masys DR, Benson DA. Don Lindberg and the Creation of the National Center for Biotechnology Information.  Stud Health Technol Inform. 2022 Feb 1;288:113-121. doi: 10.3233/SHTI210986. PMID: 35102833.
  • Monroe-Wise A, Kinuthia J, Fuller S, Dunbar M, Masuda D, Opiyo E, Muchai B, Chepken C, Omwenga E, Oboko R, Osoti A, Masys D Chung MH. Improving Information and Communications Technology (ICT) Knowledge and Skills to Develop Health Research Capacity in Kenya. Online Journal of Public Health Informatics. 2019 Dec 31;11(3):e22.   doi: 10.5210/ojphi.v11i3.10323. eCollection 2019.
  • Masys DR.  Electronic Health Records and Genomic Medicine.  Chapter 9 in Ginsburg GS, Willard HF (eds.) Genomic and Precision Medicine, Third Edition: Foundations, Translation, and Implementation. Elsevier Academic Press. 2017.  ISBN-13:  978-0128006818.
  • Riley WT, Nilsen WJ, Manolio TA, Masys DR, Lauer M. News from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiative.  Transl Behav Med. 2015 Sep;5(3):243-6.
  • Malinowski JR, Denny JC, Bielinski SJ, Basford MA, Bradford Y, Peissig PL, Carrell D, Crosslin DR, Pathak J, Rasmussen L, Pacheco J, Kho A, Newton KM, Li R, Kullo IJ, Chute CG, Chisholm RL, Jarvik GP, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M, Ritchie MD, Crawford DC. Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network. PLoS One. 2014 Dec 1;9(12):e111301.
  • Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013 Nov 24;31(12):1102-1111.
  • Oetjens MT, Denny JC, Ritchie MD, Gillani NB, Richardson DM, Restrepo NA, Pulley JM, Dilks HH, Basford MA, Bowton E, Masys DR, Wilke RA, Roden DM, Crawford DC. Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records.  Pharmacogenomics. 2013 May;14(7):735-44.
  • Masys DR, Harris PA, Fearn PA, Kohane IS, Designing a public square for research computing. Sci. Transl.  Med. 4, 149fs32 (August 2012).
  • Masys DR, Jarvik GP, Abernethy NF, Anderson NR, Papanicolaou GJ, Paltoo DN, Hoffman MA, Kohane IS, Levy HP.  Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform. 2011 Dec 27.