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Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you

Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you. Knowledge Management & Eskind Biomedical Library January 27, 2012 helen n aylor helen.naylor@vanderbilt.edu 936.3103. Objectives. Quick review of Central Dogma Define terms Familiarize with OMIM:

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Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you

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  1. Online Mendelian Inheritance in Man (OMIM):What it is & What it can do for you Knowledge Management & Eskind Biomedical Library January 27, 2012 helen naylor helen.naylor@vanderbilt.edu 936.3103

  2. Objectives • Quick review of Central Dogma • Define terms • Familiarize with OMIM: • Gene record • Phenotype record • Additional features • Links to other databases/resources

  3. Central Dogma of Biology… Flow of genetic information DNARNAProtein transcription translation Genotype Phenotype

  4. Genes & Genetic concepts… • Gene: A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism. • Genetics: the study of single genes • Genome: all the genetic information of an organism

  5. Alleles • Allele: One of two or more forms of a gene • 2 copies of each gene • One from mom; one from dad • If they are the same, homozygous • If different, heterozygous Homozygote Heterozygote HH HH HH hh HH HH HhHh

  6. Genotype & Phenotype • Genotype • Genetic constitution of an individual • Specific allele make up of an individual • Phenotype • Expression of the genotype • Individual's observable traits • Hair color, eye color, height

  7. Central Dogma of Biology DNA(genotype) RNA Protein (phenotype) transcription translation • Epigenetics • Errors in DNA sequence • SNP (small nucleotide polymorphisms) • CNV (copy number variations) • Enzyme issues (missing, mistakes) • Splicing issues • Protein amino acid substitutions • Incomplete translation • Incorrectly folded protein • Reduced/no function

  8. Online Mendelian Inheritance in Man® (OMIM®) • A catalog of human genes and genetic disorders • Curated database containing descriptions of relationship between phenotypes, their genes, and variations including • Small Nucleotide Polymorphisms (SNPs) • Copy number variations (CNVs) • Maintained at Johns Hopkins University • Updated daily

  9. OMIM® • Two types of entries: • phenotype entries • gene entries • Selected allelic variants are included in gene entries— Those contributing to a disease, with a high frequency, a distinctive phenotype, or some other clinical significance • Each entry is assigned a six digit number, usually preceded by a symbol which indicates the type of record • Records contain useful links to various databases including gene, protein and clinical resources • Search by gene, disease, primary symptom, drug…

  10. OMIM® OMIM via NCBI (http://www.ncbi.nlm.nih.gov/omim) Screenshot from NCBI OMIM. http://www.ncbi.nlm.nih.gov/omim. Accessed 1/11/2012. OMIM.orghttp://www.omim.org/

  11. OMIM® Homepage: http://omim.org/

  12. Office Hours Tuesday’s at EBL in Room 124 2-4pm helennaylor helen.naylor@vanderbilt.edu 936.3103

  13. Thank you!

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