Genetics & Human Disease: Searching the Medical Literature

I. PubMed (Select PubMed – ISU Affiliate from the "Indexes & Abstracts" link. This link has the "Get it@ISU" feature enabled.)

• Combine search terms with connector words: "AND", "OR" or "NOT". Must use upper-case letters. When searching for gene-related information, can use gene symbol/abbreviation, protein name, etc.
• Utilize "Limits" (e.g. Publication type, Language, Publication Date, etc.)
• "Related Articles" and "Links"
• "Send to Email" function
• Other features: Books (Genes & Disease), Journals Database, Single Citation Matcher
• Additional information:
  • PubMed Tutorials http://www.nlm.nih.gov/bsd/disted/pubmed.html

II. Resources with easy-to-understand information about genetics and human disease

• MedlinePlus Health Information (http://www.medlineplus.gov/)
• Genetics Home Reference (http://ghr.nlm.nih.gov/)

III. Additional Resources for Scientists and Clinicians

• OMIM: Online Mendelian Inheritance in Man (linked from PubMed, look at the black toolbar). Catalog of review articles for human genes and genetic disorders maintained by Johns Hopkins University.
• GeneTests (http://www.geneclinics.org/) Includes expert-authored disease reviews (GeneReviews), clinic and laboratory directories for genetic testing.

IV. If you encounter unfamiliar terms when reading your article:

• Talking Glossary of Genetic Terms (http://www.genome.gov/glossary.cfm)
• Medical Dictionary (http://www.nlm.nih.gov/medlineplus/mplusdictionary.html)
• GeneTests Glossary - definitions include illustrations. This is excellent.

V. For More Information

• Encyclopedia of Genetics, Genomics, Proteomics & Bioinformatics. This is an e-book available through the Library website, http://www.lib.iastate.edu/ (Do a "Title" search in the catalog.) See: Section 1.6 Genetic Medicine and Clinical Genetics. The "Uses of Databases" article discusses some of the resources presented in class.

Last updated 02/05/2008
Available at: http://www.public.iastate.edu/~adinkelm/homepage.html