Hi Michael, There is another resource that broadly defines the relationships between diseases and genes.
The paper was published in 2009 Annotating the human genome with Disease Ontology www.biomedcentral.com/1471-2164/10/S1/S6/<http://www.biomedcentral.com/1471-2164/10/S1/S6/> A recent redesign of the framework is at the following website http://doa.nubic.northwestern.edu/pages/search.php The results are monthly updated, and can be downloaded at http://doa.nubic.northwestern.edu/pages/download.php It would be great to provide an RDF repository of this Disease Ontology annotation of the human genome. Dr. Tian Xia implemented most of the redesign of the annotation. I am copying him also on this email. Best, Simon On Jul 20, 2012, at 12:32 PM, Michel Dumontier wrote: 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<http://dumontierlab.com/> ______________________________________________________________________ The contents of this message may contain private, protected and/or privileged information. If you received this message in error, you should destroy the e-mail message and any attachments or copies, and you are prohibited from retaining, distributing, disclosing or using any information contained within. Please contact the sender and advise of the erroneous delivery by return e-mail or telephone. Thank you for your cooperation.
