After again reading Daniel MacArthur’s good rundown about the state of databases of human disease-causing variation from last year (One database to hold them all), I thought it might be nice to do a tip comparing several of them. I couldn’t get it under our self-imposed 5 minute limit for our tips (and technical limit of software I’m using, but that’s about to change). But as I perused our tips and other sites, I found we and others have quite a list of how-to tips to use these databases. So in today’s tip I’ve gathered video tips for 3 of the databases listed in the linked post. Below those tips I’ll link to other how-to videos for additional human variation and disease.
Last year OMIM moved to http://www.omim.org and had a entire new interface. Mary was on top of it and did a tip on the new OMIM interface with lots of information on the move and OMIM in the post:
Our full tutorial on the new OMIM is coming soon.
HGMD has a public site and a by-subscription site. The latter includes access to the most current data and some added features. The publicly accessible site is out-of-date by three years. Because of HGMD restrictions, we aren’t able to do a tutorial or a tip on HGMD, but they do have an introduction video to their database:
Additionally, there is a good background page for more information.
Mary did a tip on MutaDatabase last summer:
Another excellent resource is Gen2Phen. The Gen2Phen project “aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality.” In that vein, they have quite an extensive list of Locus-specific databases and additional resources.