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

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

Knowledge Management & Eskind Biomedical LibraryJanuary 27, 2012

helen [email protected]

936.3103

ObjectivesQuick review of Central Dogma

◦Define termsFamiliarize with OMIM:

◦Gene record◦Phenotype record◦Additional features◦Links to other databases/resources

Central Dogma of Biology…

Flow of genetic information

DNA RNA Protein translationtranscription

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 genesGenome: all the genetic information of an organism

AllelesAllele: One of two or more forms of a gene2 copies of each gene

◦ One from mom; one from dad◦ If they are the same, homozygous◦ If different, heterozygous

Hh Hh

HH hh

Homozygote

HH HH

HH HH

Heterozygote

Genotype & PhenotypeGenotype

◦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 BiologyEpigeneticsErrors in DNA sequence

◦ SNP (small nucleotide polymorphisms)◦ CNV (copy number variations)

Enzyme issues (missing, mistakes)Splicing issuesProtein amino acid substitutions

◦ Incomplete translation◦ Incorrectly folded protein◦Reduced/no function

DNA (genotype)

RNA

Protein (phenotype)

transcription

translation

A catalog of human genes and genetic disordersCurated 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

Online Mendelian Inheritance in Man® (OMIM®)

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 HoursTuesday’s at EBL in Room 124

2-4pm

helen [email protected]

936.3103

Thank you!