Pan-Asian Ref3 K=11 Admixture

Posted by on March 13, 2012 9 comments

The HUGO Pan-Asian dataset covers South and East Asia with the following South Asian populations:

  • 23 Andhra Pradesh & Karnataka
  • 10 Bengali
  • 23 Bhil (Rajasthan)
  • 20 Haryana
  • 23 Kashmir Spiti
  • 12 Marathi
  • 12 Rajasthani
  • 30 Singapore Indian
  • 20 Uttaranchal
  • 13 Uttar Pradesh

Unfortunately, they do not specify ethnic or caste background for most Indian groups. Instead, their focus is on Mongoloid/Caucasoid/Australoid etc.

Also, the SNP overlap with other datasets is really small. Therefore, this reference 3 admixture run was done using only 5,400 SNPs. I recommend a big bucket of salt when interpreting these results.

Here is the spreadsheet with the Pan-Asian group averages for reference 3 admixture at K=11 ancestral components.

Xing Ref3 Admixture South Asians

Posted by on March 10, 2012 22 comments

As per AV's comment, here are the individual results for Xing et al South Asians.

Simonson Tibet Dataset

Posted by on March 7, 2012 6 comments

Recently, I discovered that the paper Genetic Evidence for High-Altitude Adaptation in Tibet by Tatum S. Simonson, Yingzhong Yang, Chad D. Huff, Haixia Yun, Ga Qin, David J. Witherspoon, Zhenzhong Bai, Felipe R. Lorenzo, Jinchuan Xing, Lynn B. Jorde, Josef T. Prchal, RiLi Ge has its genotyping data online.

It contains 31 Tibetans from Madou county in Qinghai province. The chip is Affymetrix and there are 868,146 SNPs, which means it has a good overlap with Reich et al and Xing et al and also with my reference 3.

I ran reference 3 K=11 admixture on this dataset. Here are the individual results:

The average is as follows:

S Asian E Asian Siberian
1% 84% 14%

Dodecad South Asian ChromoPainter

Posted by on March 4, 2012 16 comments

Dienekes ran ChromoPainter/fineSTRUCTURE analysis of South Asians along with some West Eurasian populations, something I had neglected to do in my own South Asian run.

Using Dienekes' data, I was trying to figure out which South Asian populations had more DNA chunks in common with other groups when I ran into something strange. Looking at the chunkcount spreadsheet, if we focus on a recipient population (i.e., one row), we can see which populations contributed more "chunks". For most populations, the results are expected. It's either the same population or some close population. For example, let's look at top 5 matches for Velamas_M,

Velamas_M Pulliyar_M North_Kannadi Chamar_M Piramalai_Kallars_M
Velamas_M 1265.77 1259.38 1256.06 1255.6 1254.74

However, when we do the same for Pathans, Sindhis, Uttar Pradesh Brahmins, Kshatriyas and Muslims,w e get strange results.

Chamar_M Velamas_M UP_Scheduled_Caste_M Piramalai_Kallars_M Muslim_M
Pathan 1229.91 1229.56 1229.53 1229.32 1229.27

Do Pathans match Chamar the best? Pathans don't show up as a donor till #11.

Chamar_M Piramalai_Kallars_M Pulliyar_M Velamas_M North_Kannadi
Sindhi 1234.09 1234.08 1233.85 1233.6 1233.55

Again, Sindhis as donors are #12.

Pulliyar_M Chamar_M North_Kannadi Kol_M Piramalai_Kallars_M
Brahmins_UP_M 1244.6 1244.53 1243.44 1242.88 1241.94

The same Brahmins_UP_M are #13 as donors.

Pulliyar_M Chamar_M North_Kannadi Kol_M Piramalai_Kallars_M
Kshatriya_M 1247.72 1247.36 1246.42 1244.98 1244.56

And #12.

Pulliyar_M Chamar_M North_Kannadi Kol_M Piramalai_Kallars_M
Muslim_M 1255.96 1255.36 1253.96 1251.74 1250.86

Muslim_M are #8 as donors.

There is a pattern here among the top donors for these populations. The same populations show up time and again.

Compare to my results (with a larger South Asian dataset) now. The top 10 matches for Pathans are:

  1. pathan
  2. punjabi-jatt
  3. bhatia
  4. haryana-jatt
  5. rajasthani-brahmin
  6. punjabi
  7. balochi
  8. kashmiri
  9. punjabi-brahmin
  10. sindhi

For Sindhis,

  1. sindhi
  2. bhatia
  3. balochi
  4. makrani
  5. brahui
  6. punjabi-jatt
  7. haryana-jatt
  8. meghawal
  9. pathan
  10. punjabi

For Brahmins from Uttar Pradesh,

  1. bihari-brahmin
  2. haryana-jatt
  3. brahmin-uttar-pradesh
  4. punjabi-jatt
  5. kurmi
  6. sourastrian
  7. bengali-brahmin
  8. bihari-kayastha
  9. bhatia
  10. up-brahmin

For Kshatriyas,

  1. bihari-brahmin
  2. kurmi
  3. meena
  4. kshatriya
  5. rajasthani-brahmin
  6. haryana-jatt
  7. punjabi-jatt
  8. bengali-brahmin
  9. kerala-muslim
  10. sourastrian

For Muslims,

  1. muslim
  2. chamar
  3. kol
  4. oriya
  5. uttar-pradesh-scheduled-caste
  6. bihari-muslim
  7. sourastrian
  8. brahmin-uttaranchal
  9. dusadh
  10. bihari-brahmin

If Dienekes can post a chunkcount file for the clusters computed by fineSTRUCTURE, may be we can try to figure out what happened.

Genetic Affinities of the Central Indian Tribal Populations

Posted by on March 1, 2012 2 comments

Genetic Affinities of the Central Indian Tribal Populations by Gunjan Sharma, Rakesh Tamang, Ruchira Chaudhary, Vipin Kumar Singh, Anish M. Shah, Sharath Anugula, Deepa Selvi Rani, Alla G. Reddy, Muthukrishnan Eaaswarkhanth, Gyaneshwer Chaubey, Lalji Singh, Kumarasamy Thangaraj:

Background
The central Indian state Madhya Pradesh is often called as ‘heart of India’ and has always been an important region functioning as a trinexus belt for three major language families (Indo-European, Dravidian and Austroasiatic). There are less detailed genetic studies on the populations inhabited in this region. Therefore, this study is an attempt for extensive characterization of genetic ancestries of three tribal populations, namely; Bharia, Bhil and Sahariya, inhabiting this region using haploid and diploid DNA markers.

Methodology/Principal Findings
Mitochondrial DNA analysis showed high diversity, including some of the older sublineages of M haplogroup and prominent R lineages in all the three tribes. Y-chromosomal biallelic markers revealed high frequency of Austroasiatic-specific M95-O2a haplogroup in Bharia and Sahariya, M82-H1a in Bhil and M17-R1a in Bhil and Sahariya. The results obtained by haploid as well as diploid genetic markers revealed strong genetic affinity of Bharia (a Dravidian speaking tribe) with the Austroasiatic (Munda) group. The gene flow from Austroasiatic group is further confirmed by their Y-STRs haplotype sharing analysis, where we determined their founder haplotype from the North Munda speaking tribe, while, autosomal analysis was largely in concordant with the haploid DNA results.

Conclusions/Significance
Bhil exhibited largely Indo-European specific ancestry, while Sahariya and Bharia showed admixed genetic package of Indo-European and Austroasiatic populations. Hence, in a landscape like India, linguistic label doesn't unequivocally follow the genetic footprints.

Did they seriously use only 48 AIMs (ancestrally informative markers) for their autosomal analysis?

UPDATE: Here is their autosomal analysis using STRUCTURE on 48 AIMs.

Can't say I am impressed. It is very noisy. They have the African component varying from 6.2% to 13.2% in populations that should have none. They also have Bhil at 10.8% East Asian (I got 0%), Sahariya at 15.8% (me at 12%), and Gond at 9.2% (I got 7%).

In short, using 48 AIMs instead of 118,000 SNPs leads to really noisy results.

Xing Ref3 K=11 Admixture

Posted by on February 27, 2012 11 comments

Xing et al dataset is interesting because it has a number of South Asian populations:

  • 25 Andhra Pradesh Brahmin
  • 10 Andhra Pradesh Madiga
  • 11 Andhra Pradesh Mala
  • 22 Irula
  • 25 Nepalese
  • 25 Punjabi Arain
  • 14 Tamil Nadu Brahmin
  • 12 Tamil Nadu Dalit

Unfortunately, the dataset does not have a lot of common SNPs with 23andme, FTDNA and the other data I am using.

However, I did run a reference 3 admixture on Xing data using about 30,000 SNPs. Since this is a lot less than the usual 118,000 SNPs, the noise levels are much larger.

Here is the spreadsheet with the Xing group averages for reference 3 admixture at K=11 ancestral components.

Hodoglugil Dataset

Posted by on February 24, 2012 9 comments

Dr. Mahley was nice enough to share his Turkish and Kyrgyz dataset from the paper Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations by Uğur Hodoğlugil and Robert W. Mahley.

It has:

  • 16 Kyrgyz from Bishkek
  • 20 Turks from Aydin
  • 20 Turks from Istanbul
  • 23 Turks from Kayseri

Here are the group averages for the reference 3 K=11 admixture analysis.

And here are the individual results.

Harappa Participant Admixture Group Averages

Posted by on February 21, 2012 38 comments

I have been reporting only individual admixture results for Harappa Project participants. I think it's way past time I posted some group averages too.

You can see the groups I have assigned participants and the current count for each group.

The average admixture results for each group are in a spreadsheet. This is using Reference 3. You can compare with the reference population results.

Here's the bar chart for participants group averages. Remember you can click on the legend or the table headers to sort.

Dense South Asian ChromoPainter

Posted by on February 16, 2012 9 comments

I had run ChromoPainter/fineSTRUCTURE for 715 South Asians using only about 90,000 SNPs. I thought it would be a useful exercise to use more SNPs, so I had to drop the Reich et al dataset. That left me with 615 individuals and 418,854 SNPs.

The "chunkcounts" file has the donors in columns and recipients in rows. Here's a heat map of the same.

fineSTRUCTURE classified these 615 individuals into 89 clusters. I have named these clusters for convenience, however, the names do not imply that anyone in the Punjab cluster is Punjabi.

While I created the cluster tree at the top of the spreadsheet, here's how the clusters are related.

The most interesting thing is how Gujarati A (likely Patels) are an out-group to everyone else. Another major grouping is that of the Baloch, Brahui and Makrani, along with 4 Sindhis (might be one of the Baloch tribe of Sindh?).

The Punjabis, Sindhis and Pathan get better classification here than they did last time.

The Punjab cluster includes 3 Gujarati B, 4 Pathans, 2 Singapore Indians, Punjabis, Haryanvis, Kashmiris, and a Rajasthani Brahmin. Even using this method, HRP0036, who is half-Sri Lankan and half-German/Polish was classified in the same cluster.

The Dharkar and Kanjar could not be separated at all here. According to Metspalu:

There are three second degree relatives groups in our sample: ..snip.. [Kanjar evo_37 and Dharkar HA023]. Again the last pair needs further explanation. The Dharkar and Kanjar practice a nomadic lifestyle and were living side by side at the time of sampling. As the ethnic border between the two is permeable we cannot rule out neither our error during sample collection and/or subsequent labelling nor shifted self-identity.

The inter-cluster heat map:

And you can see the chunkcounts donated from each cluster to recipient individuals in a spreadsheet.

The pairwise coincidence:

And the PCA plots:

Admixture (Ref3 K=11) HRP0211-HRP0220

Posted by on February 13, 2012 13 comments

Here are the admixture results using Reference 3 for Harappa participants HRP0211 to HRP0220.

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.

Do note that small percentages for your results can be noise.

HRP0211 seems like a typical Tamil Brahmin.

HRP0212 is half-Fijian, half Indian/Pakistani/Afghan. It looks like his Fijian ancestry shows up as Papuan and East Asian mostly.

HRP0213 is a Gujarati Khoja whose results are not just different from the Gujarati Patels (Gujarati A) but also from HRP0130, a Gujarati Ganchi and HapMap Gujarati B.

HRP0216 is an Iraqi Assyrian and is a little more European than the other Assyrians. The Onge, Papuan and American are likely noise.

HRP0217 and HRP0218 are Kazakhs and fairly similar to the other Kazakhs in the project.

This will probably be the last admixture analysis using Reference 3.