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Surgical Research Review| Volume 147, ISSUE 4, P469-474, April 2010

Understanding genetic epidemiologic association studies Part 1: Fundamentals

Published:December 04, 2009DOI:https://doi.org/10.1016/j.surg.2009.10.026
      The scientific world has witnessed a 5-fold increase in the number of published genomic studies of humans in the past 2 decades. Major advances in genetics, most notably, the completion of the Human Genome Project in 2001
      • Lander E.S.
      • Linton L.M.
      • Birren B.
      • Nusbaum C.
      • Zody M.C.
      • Baldwin J.
      • et al.
      Initial sequencing and analysis of the human genome.
      • Venter J.C.
      • Adams M.D.
      • Myers E.W.
      • Li P.W.
      • Mural R.J.
      • Sutton G.G.
      • et al.
      The sequence of the human genome.
      and the International HapMap Project
      The International HapMap Consortium
      The International HapMap Project.
      The International HapMap Consortium
      A haplotype map of the human genome.
      The International HapMap Consortium
      A second generation human haplotype map of over 3.1 million SNPs.
      in 2003, in conjunction with the rapid advances of genotyping technology, has made it more feasible and less expensive for scientists to perform large-scale studies of genetic epidemiologic associations of common as well as rare diseases. The implications for patient care are not always readily apparent; but there is an underlying expectation that these types of studies will contribute to the development of individualized medicine, where genomic information from each individual is used during consultation to help tailor the treatment plan to that specific individual. More importantly, these studies may offer insight into the cause of the disease under study and enhance our potential for risk stratification, which can ultimately help with local resource allocation.
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