in reply to Using Perl in a personalized medicine application.

Of possible further interest

Not related to genetics analysis or everything you mention but you might look into UMLS::Similarity and UMLS::Interface. They arenít drop in, you have to have some MeSH stuff locally (requires registration and involves some very large files) and understand quite a bit of licensing (mostly open but not all), and itís a technical challenge to set up but itís extremely interesting and powerful for what it does if you take the trouble.