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Genetics and Genomics of Disease

Biology And Biomedical Sciences 5487 - Spring 2019

The course will cover the use of genomic and genetic information in the diagnosis and treatment of disease, with an emphasis on current practice and existing gaps to be filled to achieve precision medicine. Areas of discussion include: bioinformatics methods; assessment of pathogenicity; use and curation of disease variant databases; discovery of incidental findings; genomics applications in Mendelian disease, complex traits, cancer, pharmacogenomics, and infectious disease; design of clinical trials with genetic data; ethical and policy issues. Prerequisites: Genomics (Bio 5488), Advanced Genetics (Bio 5491), or Fundamentals of Mammalian Genetics (Bio 5285) or equivalent (permission from instructor)
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