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OMIM

From: Michel Dumontier <michel.dumontier@gmail.com>
Date: Fri, 20 Jul 2012 15:32:11 -0400
Message-ID: <CALcEXf6ObqnV9=DGCqVV88yajksnexCmvYKFcG0Ttdfu=kMpGQ@mail.gmail.com>
To: HCLS <public-semweb-lifesci@w3.org>, bio2rdf <bio2rdf@googlegroups.com>
Hi,
  Using the OMIM API [1], I produced an RDF version of OMIM (github code
[2]) which I've subsequently loaded into a (temporary) virtuoso endpoint
[3].  The easiest way to get into the system is through a faceted search
[4], or from the list of types [5], or you can try looking at a VKORC1
associated variation as an entry point [6].

comments and suggestions welcome.

[1]  http://www.omim.org/help/api
[2]  https://github.com/bio2rdf/bio2rdf-scripts/blob/master/omim/omim.php
[3]  http://bio2rdf.semanticscience.org:8009/sparql
[4]  http://bio2rdf.semanticscience.org:8009/fct
[5]  http://goo.gl/HQ8rO
[6]
http://bio2rdf.semanticscience.org:8009/describe/?url=http%3A%2F%2Fbio2rdf.org%2Fomim_resource%3A608547_allele_1


-- 
Michel Dumontier
Associate Professor of Bioinformatics, Carleton University
Chair, W3C Semantic Web for Health Care and the Life Sciences Interest Group
http://dumontierlab.com
Received on Friday, 20 July 2012 19:33:00 GMT

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