Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders
Tutorial and training materials by OpenHelix
|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.|
- ways to perform both simple and advanced searches
- how to navigate and customize output displays to best serve your needs
- methods to view OMIM data organized by either genes or disorders
- where to find, and how to use additional features of the OMIM resource
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Recent BioMed Central research articles citing this resource
Silas Carlus Justin et al., Gene database for the development of genetic testing for hypertrophic cardiomyopathy Abstracts of the 2nd International Genomic Medical Conference (IGMC 2013) 2nd International Genomic Medical Conference (IGMC 2013). BMC Genomics (2014) doi:10.1186/1471-2164-15-S2-P65
Fabbri Campos Helena et al., The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-7
Kooper JA Angelique et al., Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-6
Liu Yang et al., Identification of collaborative driver pathways in breast cancer Human and rodent genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-605
Naka Izumi et al., Association of the endothelial protein C receptor ( PROCR ) rs867186-G allele with protection from severe malaria. Malaria Journal (2014) doi:10.1186/1475-2875-13-105
More about the resource:
OMIM comes from the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
The materials and slides offered can not be resold or used for profit purposes. Reproduction, distribution and/or use is strictly limited to instructional purposes only and can not be used for for monetary gain or wide distribution.
Copyright 2009, OpenHelix, LLC.