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Implications of Genomics for Clinical Informatics

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  1. Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum Mutat. 2005;26(2):63–8.

    Article  Google Scholar 

  2. GeneTests – medical genetics information resource including gene reviews, genetic testing laboratory and clinical directories, as well as educational materials. Available online at: http://www.genetests.org.

  3. Health Level Seven (HL7) – focusing on messaging, HL7 is an American National Standards Institute (ANSI) accredited. Available online at: http://www.HL7.org/.

  4. Hoffman MA. The genome-enabled electronic medical record. J Biomed Inform. 2007;40(1):44–6.

    Article  Google Scholar 

  5. HP supports “Individualized Medicine” initiative at partners, 30 Sept 2003. Available online at: http://www.hp.com/hpinfo/newsroom/press/2003/030930a.html. Retrieved on 5 Oct 2007.

  6. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. The diploid genome sequence of an individual human. PLoS Biol. 2007;5(10): 2113–44.

    Article  Google Scholar 

  7. Logical Observation Identifiers Names and Codes (LOINC) – focusing on the pooling of laboratory results and observations, LOINC is ANSI accredited. Available online at: http://www.regenstrief.org/medinformatics/loinc/.

  8. McDonald CJ. The barriers to electronic medical record systems and how to overcome them. J Am Med Inform Assoc. 1997;4(3):213–21.

    Article  Google Scholar 

  9. Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders. Available online at: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.

  10. Parrish F, Do N, Bouhaddou O, Warnekar P. Implementation of RxNorm as a terminology mediation standard for exchanging pharmacy medication between federal agencies. AMIA Annu Symp Proc. 2006; 2006:1057.

    Google Scholar 

  11. Rimoin DL, Hirschhorn K. History of medical genetics in pediatrics. Pediatr Res. 2004;56(1):150–9.

    Article  Google Scholar 

  12. Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT) focusing on clinical terminology, SNOMED is ANSI accredited. Available online at: http://www.ihtsdo.org/.

  13. The Database of Genotype and Phenotype (dbGaP) – serves as an archive for distribution of clinical study results containing both genotype and phenotype data. Available online at: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap.

  14. The Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG). Response to the Department of Health and Human Services Request for Information (RFI): improving health and accelerating personalized health care through health information technology and genomic information in population- and community-based health care delivery systems. Available online at: http://www.hpcgg.org/News/HPCGG_RFI_Response_1_.pdf. Retrieved on 14 Aug 2007.

  15. Wheeler DL, Barrett T, Benson DA, Bryant SH, Canese K, Chetvernin V, Church DM, Dicuccio M, Edgar R, Federhen S, Feolo M, Geer LY, Helmberg W, Kapustin Y, Khovayko O, Landsman D, Lipman DJ, Madden TL, Maglott DR, Miller V, Ostell J, Pruitt KD, Schuler GD, Shumway M, Sequeira E, Sherry ST, Sirotkin K, Souvorov A, Starchenko G, Tatusov RL, Tatusova TA, Wagner L, Yaschenko E. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 2008;36(Database issue):D13–21.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Harvard Medical School – Partners Healthcare Center for Genetics and Genomics, Boston, MA, USA

    Mollie Ullman-Cullere, Eugene Clark & Samuel Aronson

Authors
  1. Mollie Ullman-Cullere
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  2. Eugene Clark
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  3. Samuel Aronson
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Corresponding author

Correspondence to Mollie Ullman-Cullere .

Editor information

Editors and Affiliations

  1. Georgia Institute of Technology College of Computing, Atlanta, GA, USA

    Ling Liu

  2. University of Waterloo School of Computer Science, Waterloo, ON, Canada

    M. Tamer Özsu

Section Editor information

  1. Director, Clinical Programs, CIGNA Healthcare, Bloomfield, Connecticut, USA

    Vipul Kashyap

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© 2018 Springer Science+Business Media, LLC, part of Springer Nature

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Ullman-Cullere, M., Clark, E., Aronson, S. (2018). Implications of Genomics for Clinical Informatics. In: Liu, L., Özsu, M.T. (eds) Encyclopedia of Database Systems. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8265-9_194

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