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
CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell
ENCODE Foundations: ENCyclopedia of DNA Elements
GeneSNPs: An integrated view of gene structure and SNP variations
NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs
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
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
Watson M. Christopher et al., Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2016) doi:10.1186/s12881-015-0265-z
Zhang Wangshu et al., Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships. BMC Systems Biology (2016) doi:10.1186/s12918-015-0247-y
Blachowska Ewa et al., Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation Endocrinology. Italian Journal of Pediatrics (2016) doi:10.1186/s13052-015-0209-4
Samarakoon Saneth Pubudu et al., cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data Human and rodent genomics. BMC Genomics (2016) doi:10.1186/s12864-016-2374-2
Al-Hassnan N. Zuhair et al., A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2016) doi:10.1186/s12881-016-0267-5