[Data-modeling] Additional properties to Disease/Physician

Dan Ruderman dan at appliedproteomics.com
Fri Jun 6 02:43:17 UTC 2008


Hi Faye,

> 1) Type: "Disease or medical condition"
> New property: "Associated Genes", with expected type "Gene"
> Reverse property on type "Gene" will be "Associated Diseases" (will be 
> done once I get a Biology domain admin to help)
>
> For example, Huntington Disease is associated with the hungtingtin gene:
> http://sandbox.freebase.com/view/guid/9202a8c04000641f800000000005ead2
>
>   
Two comments on this.   First, people are more and more
associating gene groups (say, that belong to a particular
pathway) with diseases.   So you might want to think about
an additional property relating diseases to the gene group type.
Second, though it is a bit more work, it would be more
scientifically useful to connect the gene and the disease
though a relationship, like the way a drummer relates to
a band though band membership.  This way the relationship
between disease and gene can be annotated (e.g. it was stated
in these publications, or on this web site).   My concern is
that what we think is true today may not be true tomorrow,
so you ideally want to track who is saying what rather than state
it as fact.  This makes the data model more complicated, but it might
be worth the hassle.

> Question: Would it be useful to also add a (unique?) property 
> "Cytogenetic Band" (expected type "Cytogenetic Band") to the Disease 
> type? And if so, would a reverse property from "Cytogenetic Band" back 
> to "Disease" make sense? It would be trivial for me to add both. In the 
> case of "Huntington Disease", the property would point to the "Human 
> Cytogenetic Band 4p16.3" topic:
> http://sandbox.freebase.com/view/guid/9202a8c04000641f80000000051dc7bc
>   
For genes implicated in disease, the cytogenetic band can be
determined from the locus property on the gene itself.  However,
there are diseases which implicate entire chromosomal regions,
like cancer (e.g. http://progenetix.net/progenetix/).  But the
involvement of any given chromosomal region might depend on
the stage of the cancer, and the particular tumor you are looking
at.

I'd be happy to discuss any more thoughts on either of these
issues off-line.

Best,
Dan



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