정보과학회지 (Communications of the Korean Institute of Information Scientists and Engineers)

한국정보과학회 (Korean Institute of Information Scientists and Engineers)
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바이오메디컬 분야의 빅 데이터와 임상적 활용

  • 발행 : 2017.05.20
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참고문헌

  1. Collins, F.S.; Varmus, H. A new initiative on precision medicine. N. Engl. J. Med. 2015, 372, 793-795. https://doi.org/10.1056/NEJMp1500523
  2. Carter, T.C.; He, M.M. Challenges of identifying clinically actionable genetic variants for precision medicine. J. Healthc. Eng. 2016
  3. Vassy, J.L. ; Korf, B.R.; Green, R.C. How to know when physicians are ready for genomic medicine. Sci. Transl. Med. 2015
  4. McKusick, V.A. Mendelian Inheritance in Man and its online version, OMIM Am J. Hum Genet. 2007, 80, 588-604. https://doi.org/10.1086/514346
  5. Brunham, L.R.; Hayden, M.R. Hunting human disease genes: Lessons from the past, challenges for the future. Hum. Genet. 2013, 132, 603-617. https://doi.org/10.1007/s00439-013-1286-3
  6. Welter, D.; MacArthur, J. ; Morales, J.; et al. The NHGRlGWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 2014, 42, D1001-D1006. https://doi.org/10.1093/nar/gkt1229
  7. Gottesman, O.; Kuivaniemi, H.; Tromp, G.; et al. The Electronic Medical Records and Genomics (eMERGE) Network: Past, present, and future. Genet. Med. 2013, 15, 761-771. https://doi.org/10.1038/gim.2013.72
  8. Karen Y. H.; Dongliang G.; Max M. H. Big data analytics for genomic Medicine. Int. J. Mol. Sci. 2017, 18, 412 https://doi.org/10.3390/ijms18020412
  9. Baro, E.; Degoul, S. ; Beuscart, R.; et al. Toward a literature-driven definition of big data in healthcare. BioMed Res. Int. 2015, 2015.
  10. GATK, https://software.broadinstitute.org/gatk/best-practices/
  11. Younhee K.; Cheolho L.; MyeongHee M.; et al. Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease