October 15, 2010 (Vol. 30, No. 18)

URL:
http://decipher.sanger.ac.uk/application

Rating:
Strong Points: Nicely designed website, comprehensive user manual
Weak Points: None

Summary:

I have been known to occasionally comment on either the cleverness or absurdity of scientific acronyms, and DECIPHER is another one to throw into the “absurd” pile. DECIPHER, or should I say, DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (what a mouthful, eh?), is a great database, even if the name is a bit over-the-top. (I honestly don’t know when it became the standard to try to completely describe your resource with an incredibly long acronym.) The database maps clinical data of chromosomal microdeletions, duplications, insertions, translocations, and inversions to the human genome map to allow scientists and clinicians to better understand the effects of such chromosomal abnormalities on human health. In addition to the database, there is also a map of all of the members of the DECIPHER consortium around the world, as well as a “syndrome of the month” feature.

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