Another 23andme Sale

Posted by on December 13, 2011 1 comment

23andme is having another sale till December 31: $23 off per kit (from $99 up front). The code to take advantage of the sale price is TPHG6P.

20111213-083449.jpg

UPDATE: Here is another link for a $23 discount for 23andme.

Metspalu Ref3 Admixture Results

Posted by on December 12, 2011 22 comments

I ran supervised admixture on the Metspalu et al dataset using my reference 3 data. Here's the spreadsheet for Metspalu admixture results. You can compare with the reference 3 results.

Here's our bar chart for Metspalu results. Remember you can click on the legend or the table headers to sort.

These are very different from Dienekes for some reason.

UPDATE (Dec 13 10:04am): I found a major error. I had used the population info file I had downloaded from the paper instead of my reformatted one and thus I had not merged that info with the correct IDs with the admixture results. So the previously posted results were junk. I have fixed that now and the results are as expected.

Metspalu et al Data Relatedness

Posted by on December 11, 2011 9 comments

I performed IBD analysis on the Metspalu dataset using plink and found the relatedness of the following samples to be too high.

ID1 Source1 Population1 ID2 Source2 Population2 IBD Estimate
Mawasi1 Metspalu Mawasi Mawasi1 Chaubey Mawasi 100%
VELZ260 Metspalu Velama Velama_184_R2 Reich Velama 99%
VELZ260 Metspalu Velama VELZ265 Metspalu Velama 19%
VELZ265 Metspalu Velama Velama_184_R2 Reich Velama 19%
D254 Metspalu Tharu Tharu_107_R1 Reich Tharu 99%
D260 Metspalu Tharu Tharu_108_R1 Reich Tharu 98%
evo_32 Metspalu Kanjar 321e Metspalu Kol 53%
HA030 Metspalu Dharkar HA039 Metspalu Dharkar 52%
A387 Metspalu Dusadh A388 Metspalu Dusadh 52%
A394 Metspalu Dusadh A395 Metspalu Dusadh 52%
A395 Metspalu Dusadh A393 Metspalu Dusadh 46%
A394 Metspalu Dusadh A393 Metspalu Dusadh 45%
A392 Metspalu Dusadh A393 Metspalu Dusadh 32%
A392 Metspalu Dusadh A395 Metspalu Dusadh 31%
A392 Metspalu Dusadh A394 Metspalu Dusadh 28%
evo_37 Metspalu Kanjar HA023 Metspalu Dharkar 27%
HA039 Metspalu Dharkar HA041 Metspalu Dharkar 24%
HLKP245 Metspalu Hakkipikki Hallaki_137_R2 Reich Hallaki 22%
PULD160 Metspalu Pulliyar PULD162 Metspalu Pulliyar 20%

As you can see, three samples from Reich et al seem to be the same as Metspalu et al. In addition, two Reich samples seem to be related to Metspalu samples.

There are some Metspalu samples who are likely related to one another. A 50% indicates likely a parent-child or sibling-sibling relationship. A 45-46% relatedness is most likely siblings in my opinion. An 18-19% percentage could be a 1st cousin relationship in an endogamous community. it could also just be the background relatedness in a small, bottlenecked and endogamous community.

It looks like about half of the Dusadh in the Metspalu dataset are related.

I am surprised at the close relationship of a Kanjar and a Kol in the dataset, though both are from Uttar Pradesh.

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

Posted by on December 8, 2011 21 comments

Metspalu et al have a new paper in American Journal of Human Genetics about South Asian genetics. Here's the abstract:

South Asia harbors one of the highest levels genetic diversity in Eurasia, which could be interpreted as a result of its long-term large effective population size and of admixture during its complex demographic history. In contrast to Pakistani populations, populations of Indian origin have been underrepresented in previous genomic scans of positive selection and population structure. Here we report data for more than 600,000 SNP markers genotyped in 142 samples from 30 ethnic groups in India. Combining our results with other available genome-wide data, we show that Indian populations are characterized by two major ancestry components, one of which is spread at comparable frequency and haplotype diversity in populations of South and West Asia and the Caucasus. The second component is more restricted to South Asia and accounts for more than 50% of the ancestry in Indian populations. Haplotype diversity associated with these South Asian ancestry components is significantly higher than that of the components dominating the West Eurasian ancestry palette. Modeling of the observed haplotype diversities suggests that both Indian ancestry components are older than the purported Indo-Aryan invasion 3,500 YBP. Consistent with the results of pairwise genetic distances among world regions, Indians share more ancestry signals with West than with East Eurasians. However, compared to Pakistani populations, a higher proportion of their genes show regionally specific signals of high haplotype homozygosity. Among such candidates of positive selection in India are MSTN and DOK5, both of which have potential implications in lipid metabolism and the etiology of type 2 diabetes.

I'll have some comments later today.

Admixture (Ref3 K=11) HRP0191-HRP0200

Posted by on December 1, 2011 7 comments

Here are the admixture results using Reference 3 for Harappa participants HRP0191 to HRP0200.

You can see the participant results in a spreadsheet as well as their ethnic breakdowns and the reference population results.

Here's our bar chart and table. Remember you can click on the legend or the table headers to sort.

If the above interactive charts are not working, here's a static bar graph.

HRP0193 is Georgian and has very similar results to HRP0138 and HRP0175.

HRP0200 is Kazakh and is closely related to HRP0089. Thus the difference there (American, Onge & Papuan components) is somewhat interesting, though not high enough to be certain that it's not noise.

HRP0197 and HRP0198 are Somali. HRP0197 pointed out to me that 14S_R1, a Somali in the reference set, was an outlier who was more like East African Bantu (e.g., Luhya) than the other reference Somalis. So in the table below, I have excluded 14S_R1 for the average.

Component RefAverage HRP00197 HRP00198
S Asian 0 2 2
Onge 4 0 1
E Asian 0 1 2
SW Asian 28 33 34
European 0 0 0
Siberian 0 2 1
W African 12 14 13
Papuan 0 0 0
American 0 0 1
San/Pygmy 2 3 2
E African 52 44 43

Interestingly, the two project participants are more Asian than the reference average.

23andme Discount and 198

Posted by on November 28, 2011 1 comment

23andme has a discount just for today, according to Twitter and Facebook:

Happy Cyber Monday From 23andMe! Today only $25 Off Our Personal Genome Service®. Offer ends 12pm PST Click Here: bit.ly/uiuxbY

It says it ends at 12pm PST which is at noonmidnight PST on the US west coast. So you'll have to move fast if you want to get it.

Also, Harappa Ancestry Project is just two submissions away from 200 participants.

Computer Upgrade Delays

Posted by on November 16, 2011 Comments Off on Computer Upgrade Delays

I upgraded my desktop last week.

The bad news is that I am having to upgrade from XP to Windows 7 which means reinstalling everything.

The good news is that Ubuntu ran perfectly after the upgrade.

And the best news is that with an Intel Core i7-2600 and 8GB of RAM, Admixture is running about 6 times faster.

Ref3 + Yunusbayev Harappa Admixture Results

Posted by on November 10, 2011 1 comment

The ADMIXTURE results for the Harappa participants (up to HRP0180) for the Reference 3 + Yunusbayev dataset are in a spreadsheet and can also be seen in the bar charts below.

Do take a look at K=12 and K=17 (lowest crossvalidation errors) as well as K=15.

Ref3 + Yunusbayev Caucasus Data Admixture

Posted by on November 7, 2011 7 comments

To my standard reference 3 (list of populations), I added the Yunusbayev et al Caucasus samples which include the following:

  • 20 abhkasians
  • 16 armenians
  • 19 balkars
  • 13 bulgarians
  • 20 chechens
  • 14 kumyks
  • 6 kurds
  • 15 mordovians
  • 16 nogais
  • 15 north-ossetians
  • 15 tajiks
  • 15 turkmens
  • 20 ukranians

These 204 samples increased the total to 4,090.

Then I applied a stricter IBD relationship cutoff than I have before. Previously my focus was on removing relatives, but now I wanted to remove samples that seemed highly inbred or belonged to highly bottle-necked small groups so they would not create their own clusters in Admixture. This process removed the following 164 samples:

  • maasai 30
  • papuan 15
  • karitiana 12
  • pima 12
  • onge 8
  • surui 7
  • luhya 6
  • melanesian 6
  • colombian 5
  • hadza 5
  • koryaks 5
  • sandawe 5
  • san 4
  • turkmens 4
  • african-americans 3
  • east-greenlanders 3
  • great-andamanese 3
  • nganassans 3
  • chenchu 2
  • evenkis 2
  • han-chinese-south 2
  • maya 2
  • mbutipygmy 2
  • mexicans 2
  • utahn-whites 2
  • aus 1
  • bantukenya 1
  • british 1
  • chinese-americans 1
  • gujaratis-b 1
  • iranians 1
  • naxi 1
  • north-kannadi 1
  • samaritians 1
  • she 1
  • tuvinians 1
  • yemenese 1
  • yoruba 1
  • yukaghirs 1

Finally, I added the 165 founders from the Harappa Project participants (up to HRP0180).

The crossvalidation error for the admixture results with K (number of ancestral components) from 2 to 20 is plotted here.

Zooming in,

The lowest crossvalidation errors are for K=17 and K=12.

The admixture results are in a spreadsheet.

In addition to K=17 and K=12, take a look at the results for K=15.

PS. I should point out that the names for the ancestral components are just useful mnemonics based on the current distribution of that component. Also, a component with the same name at one value of K is different from a similarly named component at another K.

Admixture (Ref3 K=11) HRP0181-HRP0190

Posted by on November 3, 2011 43 comments

Here are the admixture results using Reference 3 for Harappa participants HRP0181 to HRP0190.

You can see the participant results in a spreadsheet as well as their ethnic breakdowns and the reference population results.

Here's our bar chart and table. Remember you can click on the legend or the table headers to sort.

If the above interactive charts are not working, here's a static bar graph.

HRP0181 is half-Punjabi Jatt and half-English and the admixture results are not too different from the average of the reference British and our other Punjabi Jatt participants.

HRP0183, a Khatri, has fairly high European component, less than the Jatts but higher than most other South Asians.

HRP0186 is the most West Asian (and thus least European) of all our Georgian participants.

HRP0188,a Haryana Jatt, has the highest European component (29%) of all South Asians I think. I am surprised at the results for the two Haryana Jatts. I would not have expected their results to be much different from the Punjabi Jatts. If anything, I thought the Haryanavis would be less European than the Punjabis. Now I want to get a few non-Jatt Haryanavi participants. Anybody know someone?