Big data analysis has become the new buzzword. It is incredible to see how much data is available in online databases these days. There are many databases for the scientist – for example PubMed is the one that is used most prominently by researchers to look up a reference. However, there are many that are very huge and interesting to the data miner.
OMIM – Online Mendelian Inheritance in Man. This is a database of all the genes and disorders that are inheritable or can be carried by inheritance. This database is curated and owned by John Hopkins University but is easily distributable to the researchers. Ask for the license when interested.
Search for something simple like “sickle cell anemia” tells you about the disorder by description, clinical features, diagnosis, management, molecular genetics.
What it exceeds in is telling you about the Chromosome locus (11p15.4) and also other information about the disease. Clicking on the locus name leads to the chromosome and the genes and other loci that are relevant to that location in the chromosome and probably the disease.
There are currently 3290 phenotype descriptions with known molecular basis and 13,299 gene descriptions in the database (as of Oct 1, 2012). Contrast that with about 1500 FDA approved drugs – many of which target the same molecule. This tells you that the potential for developing treatments for many of the disorders is huge, even though many of them are typically thought to be “non-druggable” – for example, things like gene deletions of enzymes.
The database is superb but probably has more information than a single reader can absorb in a day but it is a great data mining resource. They allow access to programs and also to downloads – worth investigating…