Crowdsourcing the Analysis of

Genomes3 Years of Publicly Available Genotypings – Stories from the Frontline

Personal Genomics

Personal Genomics

Personal Genomics

& open data

Science & open data

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)

• Collects personalized genetic data from customers of 23andMe,

FamilyTreeDNA, etc.

• Also collects phenotypic information (medical history etc.)

• Data available under Creative Commons Zero (~ Public Domain)

& end users

& end users

• add value: cross-database annotation

• some data visualization

• (community aspect)

• enable scientific advances?

is the data used?

from my inbox: analysis of individual files.

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.

finding relatives

replication of published studies

teaching

art

medical breakthroughs?

limitations

• sample sizes (so far)

• usability of the data

• usage of the data

tl;dr

• people openly publish their personal genomics data sets

• actual usage of that data is limited so far

• but: some of the examples show the potential of opening up human

genetics

thx from us

Samantha Clark

Julia Reda

Helge Rausch

Philipp Bayer