Post on 14-Jul-2015
transcript
Crowdsourcing the Analysis of
Genomes3 Years of Publicly Available Genotypings – Stories from the Frontline
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
• add value: cross-database annotation
• some data visualization
• (community aspect)
• enable scientific advances?
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.
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