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
 Objectives
 Quick review of Central Dogma
◦ Define terms
 Familiarize with OMIM:
◦ Gene record
◦ Phenotype record
◦ Additional features
◦ Links to other databases/resources
Central Dogma of Biology…
Flow of genetic information

DNA RNA Protein

transcription translation

Genotype Phenotype
 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
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 Hh Hh
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
 Central Dogma of Biology
DNA (genotype)  Epigenetics
 Errors in DNA sequence
transcription
◦ SNP (small nucleotide polymorphisms)
◦ CNV (copy number variations)
RNA  Enzyme issues (missing, mistakes)
 Splicing issues
translation
 Protein amino acid substitutions
◦ Incomplete translation
Protein (phenotype) ◦ Incorrectly folded protein
◦ Reduced/no function
 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
 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…
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.org http://www.omim.org/
OMIM® Homepage: http://omim.org/
 Office Hours
Tuesday’s at EBL in Room 124
2-4pm

helen naylor
helen.naylor@vanderbilt.edu
936.3103
Thank you!