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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

Pinto Plaza Irene et al., A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-44

Younkin G Samuel et al., A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk Complex traits and quantitative genetics. BMC Genetics (2014) doi:10.1186/1471-2156-15-24

Li Wentian et al., Diminishing return for increased Mappability with longer sequencing reads: implications of the k -mer distributions in the human genome Sequence analysis (methods). BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-2

Garcia Benjamin et al., Network and matrix analysis of the respiratory disease interactome Networks and information flow. BMC Systems Biology (2014) doi:10.1186/1752-0509-8-34

Lieber S Daniel et al., Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-30

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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