[GET-dev] Non-nsSNP variants

Tom Clegg tom at scalablecomputingexperts.com
Mon May 17 23:48:49 EDT 2010


An update on the non-nsSNP variants in GET-Evidence:

* PharmGKB annotations are now attached to the gene/AA pages where
possible (i.e., where genome evidence exists linking an AA change to
an rsid listed in PharmGKB)

* rs# now redirects to the AA page if applicable (again, if genome
evidence links the AA to the rs#) -- for example,
http://evidence.personalgenomes.org/rs1801394

* All PharmGKB variants should now be marked "pharmacogenetic" if they
were previously "not reviewed" (until this evening, only the
previously non-existent variants got marked as "pharma")

* The GWAS robot needs an analogous upgrade for "pathogenic" -- I
entered ticket #32 for this, I should have it done tomorrow.

* There's still more to do on the "rs# vs. gene/aa" front before it's
fully solved, but I think this puts us in a reasonable position for
resubmitting.  Everyone is welcome to correct me if I'm wrong about
that.  :)

Thanks,
Tom




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