First, let me start off by saying thanks to everyone that has explored their data on Interpretome so far. We’ve had a tremendous response to the site and I couldn’t be more thrilled. I wanted to provide an update on certain perspectives I’ve gotten from scouring the web for reactions to the analyses on the site.
It seems that many have enjoyed the Ancestry and Neandertal analyses, and to be honest, these are some my favorites too! They truly are a fascinating look into the role of ancient DNA and human migration patterns throughout history. Plotting yourself on a world/continent map can really give a perspective on where you’ve come from. My (not surprising) Polish ancestry jumps out on the POPRES dataset, clustering among Polish and Northern Europeans.
For those looking to explore their own, for most of the datasets, plotting PC1 vs. PC2 with any number of SNPs (the more, the better) should give good results, assuming you are somewhat similar to at least one of the populations in that reference panel. This means that Africans will likely find interesting results from the African PCA, but it is uninterpretable for Europeans. (As an aside, the POPRES dataset is best run with PC1 vs. PC4 and using the relevant platform, 43K for v2 and 74K for v3).
For the Chromosome Painting, at present, there is no “right” set of parameters. We use a heuristic/approximation algorithm to determine the ancestry tracks and we are actively developing more robust methods (as well as adding more distinct, i.e. less admixed reference populations). The challenge is to provide an accurate tool that can be run in your own browser (without too much computing power or sophisticated custom software). At the moment, the Hapmap 2 painting should work reasonably well: tuning the parameters will affect the sensitivity, at the cost of some noise.
Also coming soon is a new method to illustrate disease risk analysis, grouping SNPs by disease to visualize them easier. While we don’t intend to provide any actual predictive analysis, our mission is to provide the tools needed for anyone to explore their genome. We hope that this will educate the public (including clinicians and scientists as well as hobbyists) about the power/potential power/limitations of a personal genome and enable individuals to do and share their own custom analysis.