Learn to use Online Mendelian Inheritance in Man, or OMIM, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.
You will learn:
This tutorial is a part of the tutorial group Human variations. You might find the other tutorials in the group interesting:
GAD: Genetic Association Database: An archived database associating human genes and polymorphisms with diseases
Madeline 2.0: Human pedigree diagram tools
DrugBank: A chemoinformatics and bioinformatics resource
DGV: Database of Genomic Variants: Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome
NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs
CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell
ENCODE Foundations: ENCyclopedia of DNA Elements
HapMap: HapMap, a database and analysis resource of human variation
Genetics Home Reference: A collection of data describing the effects of genetic variability on human health and disease
GeneSNPs: An integrated view of gene structure and SNP variations
dbGaP: A database of genotypes and phenotypes with extensive variation data and clinical details
SeattleSNPs: Human SNPs in genes
dbSNP: NCBI's SNP database
GeneTests: GeneTests, a current, comprehensive genetic testing resource
Variation & Medical : Resources that include information about sequence variation, phenotypes, or medically-relevant conditions.
Video Tip of the Week: PhosphoSitePlus, protein post-translational modifications : Nucleotide sequence data and analysis commands the bulk of my attention on most days. But certainly post-translational modification of proteins has a lot of influence on the ultimate function (or dysfu...
Video Tip of the Week: Nowomics, set up alert feeds for new data: Yeah, I know you know. There's a lot of genomics and proteomics data coming out every day--some of it in the traditional publication route, but some of it isn't--and it's only getting harder and harder...
Video Tip of the Week: PheGenI, Phenotype-Genotype Integrator: The hunt for variations in genes and genomes has been both fruitful and frustrating. We can see genome variations in a variety of ways, but we can't always connect them with a phenotype easily. And vic...
Video Tip of the Week: list of genes associated with a disease: I am currently in Puerto Varas, Chile at an EMBO genomics workshop. The workshop is mainly for grad students and the instructors are, for the most part, alumni of the Bork group. I gave a tutorial on ...
Video Tip of the Week: the new and improved OMIM®: For this week's Tip of the Week we highlight our new tutorial on OMIM, Online Mendelian Inheritance in Man. If you haven't looked at OMIM for a while, or if you usually only think about it as a link i...
Recent BioMed Central research articles citing this resource
Hu Ping et al., A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. Molecular Cytogenetics (2015) doi:10.1186/s13039-015-0110-2
Jiang Rui et al., Pinpointing disease genes through phenomic and genomic data fusion Selected articles from the Thirteenth Asia Pacific Bioinformatics Conference (APBC 2015): Genomics The Thirteenth Asia Pacific Bioinformatics Conference (APBC 2015). BMC Genomics (2015) doi:10.1186/1471-2164-16-S2-S3
Pousada Guillermo et al., Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension. Orphanet Journal of Rare Diseases (2015) doi:10.1186/s13023-014-0216-3
Greco Ermanno et al., Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst Medicine. SpringerPlus (2015) doi:10.1186/s40064-015-0788-y
Shaw A Chad et al., Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Medicine (2015) doi:10.1186/s13073-015-0129-3