1. openSNP
Genetic Testing
meets Open Data

2. DTC Genetic Testing

4. ?

5. What’s the
point?

7. Genotype-To-Phenotype

8. GWAS

9. ramping up
N

10. mo money mo science

11. 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)

12. Personal Open Data
• data sets spread on
• github
• personal websites
• …
• dead links
• no contact details

13. openSNP
• central repository structure
• users can be contacted
• accessible
• open (surprise!)

14. Data
• Genotypes
• Phenotypes (Hair/Eye Color, Diseases,
Quantified Self…)
• Primary Literature (PLOS/Mendeley, …)
• Genotype<->Phenotype-Associations (PGP,
SNPedia)

16. Access ?
• Export via:
• Complete Dumps
• JSON-API
• XML (Distributed Annotation System)
•

17. people are
doing this?

18. Usecases
• “Code Review”
• Ancestry
• Pharmacogenomics
• Replication
• Privacy!!11
• Artsy Stuff

19. 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

20. Ancestry

21. Privacy

22. Privacy

23. Privacy

24. ToS

25. Artsy Stuff

26. openSNP are:
Samantha Clark
Julia Reda
Helge Rausch
Philipp Bayer
special thx to:
@wilbanks
~3700 users