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Medical Genetics 2 nd February 2010 Carrie Iwema, PhD, MLS Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh.

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Presentation on theme: "Medical Genetics 2 nd February 2010 Carrie Iwema, PhD, MLS Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh."— Presentation transcript:

1 Medical Genetics 2 nd February 2010 Carrie Iwema, PhD, MLS Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh http://www.hsls.pitt.edu/guides/genetics

2 QUESTION: ?...how to locate the relevant genetic information about a particular disorder…? www.hsls.pitt.edu/guides/genetics

3 Useful (free) Online Resources (1): search.HSLS.MolBio Molecular databases & tools search engine, U.Pitt NCBI Entrez Gene Searchable database of genes Online Mendelian Inheritance in Man (OMIM) Compendium of human genes and genetic phenotypes GeneTests Medical genetics information resource GARD Molecular Genetic and Rare Disease Information Center Genetic Tools Genetics through a primary care lens www.hsls.pitt.edu/guides/genetics

4 Useful (free) Online Resources (2): BioMed Central Databases Catalog of biomedical databases Genetic Association Database Archive of human genetic association studies Database of Genomic Variants Curated catalog of structural variants in human genome dbGAP Database of Genotypes & Phenotypes Gene Gateway Collection of guides/tutorials on the Human Genome Project Your Genes Your Health A multimedia guide to genetic disorders www.hsls.pitt.edu/guides/genetics

5 HSLS Molecular Biology Info Service www.hsls.pitt.edu/guides/genetics

6 NCBI Entrez Gene www.hsls.pitt.edu/guides/genetics

7 NCBI—OMIM www.hsls.pitt.edu/guides/genetics

8 GeneTests & GeneReviews www.hsls.pitt.edu/guides/genetics

9 Genetic and Rare Diseases Information Center www.hsls.pitt.edu/guides/genetics

10 Genetic Tools www.hsls.pitt.edu/guides/genetics

11 BioMed Central Databases www.hsls.pitt.edu/guides/genetics

12 Genetic Association Database www.hsls.pitt.edu/guides/genetics

13 Database of Genomic Variants www.hsls.pitt.edu/guides/genetics

14 dbGAP www.hsls.pitt.edu/guides/genetics

15 Gene Gateway www.hsls.pitt.edu/guides/genetics

16 Your Gene Your Health www.hsls.pitt.edu/guides/genetics

17 Pharmacogenetics Resources: PharmGED Pharmacogenetic effect database PharmGKB Pharmacogenetics & pharmacogenomics knowledge base www.hsls.pitt.edu/guides/genetics

18 PharmGED www.hsls.pitt.edu/guides/genetics

19 PharmGKB www.hsls.pitt.edu/guides/genetics

20 Genetics Education Groups: NCHPEG National Coalition for Health Professional Education in Genetics Genetic Alliance Genetics community advocacy organization National Human Genome Research InstituteNational Human Genome Research Institute Information about genetics and genomes, rare diseases, patient care and more www.hsls.pitt.edu/guides/genetics

21 NCHPEG www.hsls.pitt.edu/guides/genetics

22 Genetic Alliance www.hsls.pitt.edu/guides/genetics

23 National Human Genome Research Institute www.hsls.pitt.edu/guides/genetics

24 Thank you! Any questions? Carrie IwemaAnsuman Chattopadhyay iwema@pitt.eduansuman@pitt.edu 412-383-6887412-648-1297 http://www.hsls.pitt.edu/guides/genetics

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