Tutorial and training materials
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.
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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