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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.
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You'll learn:

  • 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

Chong Sing Wilson Wai et al., Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-34

Martínez Víctor et al., ProphNet: A generic prioritization method through propagation of information Integrated Bio-Search: Selected Works from the 12th International Workshop on Network Tools and Applications in Biology (NETTAB 2012) Integrated Bio-Search: 12th International Workshop on Network Tools and Applications in Biology (NETTAB 2012). BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-S1-S5

Chu Jeffrey Shih-Chieh et al., High-throughput capturing and characterization of mutations in essential genes of Caenorhabditis elegans Multicellular invertebrate genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-361

Yu Yibo et al., A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-6

Hung Noelyn et al., Increased paired box transcription factor 8 has a survival function in Glioma Translational oncology. BMC Cancer (2014) doi:10.1186/1471-2407-14-159

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.


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