Monday, September 26, 2016

Estonian Biocentre Human Genome Diversity Panel (EGDP)


Published along with Pagani et al. 2016, the EGDP dataset is freely available at the Estonian Biocentre website as VCF and PLINK binary files here. It overlaps at ~550K SNPs with Harvard's Human Origins, and at an impressive ~1.1 million SNPs with the ~1.2 million SNP ancient DNA chip used by the Reich Lab and others.

To see what's what, I ran a Principal Component Analysis (PCA) of all of the samples except the Congo Pygmies. I then removed four Siberians that behaved as if they had very recent European ancestry, and reran the PCA. Below are a few screen grabs from the latter analysis. The datasheet is available here.

I also tested a few of the samples with my Basal-rich K7 model. You can see their results in the spreadsheet here. Look for the individual IDs with the GS prefix.

Using the K7 spreadsheet and nMonte, here's a model for Ashkenazi Jews with some of the new EGDP populations as references, including Avars from the North Caucasus and Arabs from Israel. The Arabs do help to improve the fit, but they're not as important as Samaritans and Tuscans.

Ashkenazi
Anatolia_ChL 7.9
Arab_Israel_1 15.65
Avar 0.6
Bashkir 0.05
Cossack 0
Italian_Tuscan 30.45
Polish 11.75
Samaritan 33.6
Uygur 0

distance%=0.2874 / distance=0.002874

In any case, that looks like a fairly sensible outcome, considering that it only took me a few minutes to put together. I've seen much worse in scientific literature.

Friday, September 2, 2016

Ust'-Ishim man x2


Just wanted to see what would happen if I split Ust-Ishim into two homozygous sequences, and ran him in a Principal Component Analysis (PCA) alongside other fully homozygous individuals and composites, both modern day and ancient. In theory this shouldn't be a problem, considering that his genome is of such an incredibly high quality (~42-fold coverage). The datasheets for the PCA below are available here and here.

This is the only way that I can think of to run a PCA in which genetic drift specific to the Ust'-Ishim population of ~45K YBP western Siberia has a clear impact. Indeed, lots of interesting things on these plots. Note, for instance, that on the second plot the Afanasievo and Yamnaya-Catacomb composites appear to be attracted to the Caucasus Hunter-Gatherer composite. Also note how unusual the Neolithic Iranians (Iran_EN) appear.



Update 02/09/2016: Interactive 3D versions of these PCA are now available at Open Genomes here and here. Below are screen caps of angles that appear to recapitulate the geography of Eurasia. See comments below for details.






See also...

Ancient vs modern day West Eurasian variation