For this week’s Tip of the Week we highlight our new tutorial on OMIM, Online Mendelian Inheritance in Man. If you haven’t looked at OMIM for a while, or if you usually only think about it as a link in some other database you use, look again. There’s more there than you realize.
OMIM is one of the first online tools I became aware of way back in my career. That shared Mac in the back of the lab, with it’s teeny little screen–and accessing the link to OMIM from that NCBI interface–remember that old interface? Even then OMIM was a venerable resource with an unmatched collection of human genes, traits, and phenotype data. There was a great paper about the history of OMIM that Victor McKusik wrote about his own career and his work, and he recounts the beginnings of his human gene information collection and many other aspects of the human genetic knowledge realm. It’s a fascinating look at one guy’s path and influences that lead us to where we are today. But here’s the short history of OMIM as a computational resource:
Mendelian Inheritance in Man has been maintained on the computer since 1964. With the first print edition in 1966, it was a pioneer in computer-based publication. In the 1980s, MIM was prepared for online presentation, with a search engine that enhanced its usefulness. Online access, as OMIM, was provided generally beginning in 1987, first from the Welch Medical Library at Johns Hopkins and since December 1995 from the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (27).
Because of how long OMIM® has been around and its utility and depth, it’s been incorporated into probably almost every bioinformatics resource you use around the world. I love the UCSC Genome Browser track option that you can turn on to supplement your look at genomic regions and quickly find disease-causing genes, for example. But just seeing a link to OMIM doesn’t give you the full scope of understanding of the features it offers. With the move away from the NCBI site, the OMIM team changed their interface quite a bit to offer a lot more features than they were able to before. New links to appropriate resources have been added. New ways to integrate knowledge have been provided.
The training materials are freely available because they are sponsored by the OMIM team, who worked with us to create them. They are free for a limited time, so check them out soon.
OMIM tutorial: http://openhelix.com/OMIM
McKusick, V. (2006). A 60-Year Tale of Spots, Maps, and Genes Annual Review of Genomics and Human Genetics, 7 (1), 1-27 DOI: 10.1146/annurev.genom.7.080505.115749
Amberger, J., Bocchini, C., & Hamosh, A. (2011). A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) Human Mutation, 32 (5), 564-567 DOI: 10.1002/humu.21466