While it doesn't seem to be the convention in this group, now that I have 
graduated from lurking to participating, I thought I should say why I am here.

I have a new job with a genomics company in Silicon Valley, and my remit is to 
work out how best to represent both scientific knowledge about genomics, and 
also the per-patient knowledge found in say a VCF file ….

Having been working in SemWeb for over a decade now (RDF Concepts, OWL Tests, 
Jena, Named Graphs, TopBraid Suite), my bias is to use SemWeb technologies; 
but, particularly with the variant information, the back-of-an-envelope numbers 
look fairly large, see:

http://lists.w3.org/Archives/Public/semantic-web/2013Mar/0048.html

(That's 1B triples for science, and 1B triples per vcf file uploaded)

The Clinical Pharmacogenomics TF seems like the most relevant part, 
unfortunately the 7.15 - 8.15 slot for the call coincides with some parental 
duties for me …

I am still on the look out for some documentation by people who have been 
tackling similar problems.

As far as I can tell, many people in the field are bought into an ontological 
approach, but the penetration of even pretty basic SemWeb good practices is 
low: e.g. use of URIs for concepts, RDF and OWL … and interoperating with 
various large datasets (e.g. dbsnp) is necessary, but most are not natively OWL

Any thoughts or suggestions would be very welcome

Jeremy


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