1. openSNP Genetic Testing meets Open Data 2. DTC Genetic Testing 3. ? 4. Whats the point? 5. Genotype-To-Phenotype 6. GWAS 7. ramping up N 8. mo money mo science 9. I firmly believe that the next great breakthrough in bioscience could come from a 15-year-old who downloads the human genome in Egypt. Thomas Friedman (2005, WIRED) If we can put a man on the moon and sequence the human genome, we should be able to devise something close to a universal digital public library Peter Singer (2011, The Guardian) 10. Personal Open Data data sets spread on github personal websites dead links no contact details 11. openSNP central repository structure users can be contacted accessible open (surprise!) 12. Data Genotypes Phenotypes (Hair/Eye Color, Diseases, Quantified Self) Primary Literature (PLOS/Mendeley, ) GenotypePhenotype-Associations (PGP, SNPedia) 13. Access ? Export via: Complete Dumps JSON-API XML (Distributed Annotation System) 14. people are doing this? 15. Usecases Code Review Ancestry Pharmacogenomics Replication Privacy!!11 Artsy Stuff 16. I have a program that looks at 23andMe results and finds the 50- 100 most 'rare/uncommon' results out of the 900,000+ tested by 23andMe. Your results show your European background very well. And, you do have just 1 homozygousrecessive result but it comes in an intergenic region so presumably can be ignored. However, you are a 'carrier' for one of the SNPs (rs1805128) in theKCNE1 gene which has been associated with 'torsade de pointes' (but the evidence is very poor!). Also, there is no suggestion of consanguinity in your pedigree. Code Review 17. Ancestry 18. Privacy 19. Privacy 20. Privacy 21. ToS 22. Artsy Stuff 23. openSNP are: Samantha Clark Julia Reda Helge Rausch Philipp Bayer special thx to: @wilbanks ~3700 users