The University of Tennessee Health Science Center

This talk explores several publicly available human genomes using information found in SNPedia. Each genome is profiled for disease risks, drug warnings, and recreational genomics topics. Example findings include: James Watson carries two CYP2D6*10 variants which limit his ability to metabolize Codeine, while the YH Chinese genome shows significant risk of vision loss with age. Unique aspects of SNPedia such as Genosets (boolean combinations of alleles) and Magnitude (a subjective measure of community interest) will be discussed, as well as the planned approach for annotating CNVs and larger structural variants.  All of this information is semantic web accessible, with RDFs and queryable via a SPARQL interface. Since the approach works equally well for full genomes as well as genotyping microarrays there is a broad audience for its content. Additional users help verify and improve the annotations. The tools which perform this analysis are user friendly desktop apps freely available for non-commercial use.