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”With the sequencing of the human genome…the practice of medicine has now entered an era in which the individual patient’s genome will help determine the optimal approach to care, whether it is preventive, diagnostic, or therapeutic. Genomics, which has quickly emerged as the central basic science of biomedical research, is poised to take center stage in clinical medicine as well.”[1]

This guide:

  • Is to help you find introductory materials relating to Genetics and Genomics, such as basic features of the human genome and its organization into chromosomes. Genetics and genomics are terms often (incorrectly) used interchangeably in the literature and on the Web.[2]
  • Is not comprehensive in scope or coverage, particularly for specific genetic conditions or new and improved technologies.
  • Provides links to bioinformatics gateways for more genetic information (e.g., National Center for Biotechnology Information), for DNA sequence data from the human genome and for resources that analyze human genome sequences.
  • Points primarily to free electronic items, or records for materials that may be available via your library.
  • Has a section of links for professional education.
  • Has a section suggesting how to use PubMed to search for citations to published research journal literature for more information about a particular disease or condition.

This guide is selective. Consult a reference librarian or search a library online catalog to supplement this guide with materials that address your needs. We also encourage contacting organizations that are disease or disorder specific for more information.

This guide does not include in-depth information for the following:

  • Analytical techniques such as molecular diagnostics and testing
  • Bioethics of genetics
  • Bioinformatics (i.e., use of computer programs and databases to analyze proteins, genes and genomes to make sense of DNA sequence that constitutes each genome)
  • Birth defects/congenital malformations (Dysmorphology)
  • Drug development
  • Gene therapy
  • Gene-environment interaction
  • Geneology
  • Genetic counseling
  • Genetic engineering
  • Genetic epidemiology
  • Immunogenetics (combination of immunology and genetics)
  • Molecular genetics
  • Nutrigenomics
  • Pharmacogenetics
  • Systems biology

[1] Guttmacher AE, Collins FS. Genomic medicine—A primer. In: Guttmacher AE, Collins FS, Drazen JM, editors. Genomic Medicine. Baltimore: John Hopkins University Press; 2004. p.12.

[2] Woodage T, Collins, FS. The genomic basis of medicine. In: Warrell DA, Cox TM, Firth JD, editors. Oxford Textbook of Medicine. 4th ed. Vol. 1. Oxford: Oxford University Press; c2003. p.81.

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