Native American Gene Flow – Europe?, Asia and the Americas

Posted on November 22, 2013 by Roberta Estes

Pre-release information from the paper, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” which included results and analysis of DNA sequencing of 24,000 year old skeletal remains of a 4 year old Siberian boy caused quite a stir. Unfortunately, it was also misconstrued and incorrectly extrapolated in some articles. Some people misunderstood, either unintentionally or intentionally, and suggested that people with haplogroups U and R are Native American. That is not what either the prerelease or the paper itself says. Not only is that information and interpretation incorrect, the paper itself with the detailed information wasn’t published until November 20^th, in Nature.

The paper is currently behind a paywall, so I’m going to discuss parts of it here, along with some additional information from other sources. To help with geography, the following google map shows the following locations: A=the Altai Republic, in Russia, B=Mal’ta, the location of the 24,000 year old skeletal remains and C=Lake Baikal, the region from where the Native American population originated in Asia.

Nature did publish an article preview. That information is in bold, italics and I will be commenting in nonbold, nonitalics.

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians^{1, 2, 3}, there is no consensus with regard to which specific Old World populations they are closest to^{4, 5, 6, 7, 8}. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal’ta in south-central Siberia⁹, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date.

Within the paper, the authors also compare the MA-1 sequence to that of another 40,000 year old individual from Tianyuan Cave, China whose genome has been partially sequenced. This Chinese individual has been shown to be ancestral to both modern-day Asians and Native Americans. This comparison was particularly useful, because it showed that MA-1 is not closely related to the Tianyuan Cave individual, and is more closely related to Native Americans. This means that MA-1’s line and Tianyuan Cave’s line had not yet met and admixed into the population that would become the Native Americans. That occurred sometime later than 24,000 years ago and probably before crossing Beringia into North America sometime between about 18,000 and 20,000 years ago.

The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers^{10, 11, 12}, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages⁵.

The paper goes on to say that MA-1 is a member of mitochondrial (maternal) haplogroup U, very near the base of that haplogroup, but without affiliation to any known subclade, implying either that the subclade is rare or extinct in modern populations. In other words, this particular line of haplogroup U has NOT been found in any population, anyplace. According to the landmark paper, “A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA Tree from its Root,” by Behar et al, 2012, haplogroup U itself was born about 46,500 years ago (plus or minus 3.200 years) and today has 9 major subclades (plus haplogroup K) and about 300 branching clades from those 9 subclades, excluding haplogroup K.

The map below, from the supplemental material included with the paper shows the distribution of haplogroup U, the black dots showing locations of haplogroup U comparison DNA.

In a recent paper, “Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity” by Brandt et al (including the National Geographic Consortium) released in October 2013, the authors report that in the 198 ancient DNA samples collected from 25 German sites and compared to almost 68,000 current results, all of the ancient Hunter-Gatherer cultural results were haplogroup U, U4, U5 and U8. No other haplogroups were represented. In addition, those haplogroups disappeared from the region entirely with the advent of farming, shown on the chart below.

So, if someone who carries haplogroup U wants to say that they are distantly related to MA-1 who lived 24,000 years ago who was also related to their common ancestor who lived sometime prior to that, between 24,000 and 50,000 years ago, probably someplace between the Middle East where U was born, Mal’ta, Siberia and Western Europe, they would be correct. They are also distantly related to every other person in the world who carries haplogroup U, and many much more closely that MA-1 whose mitochondrial DNA line is either rare as chicken’s teeth (i.e. never found) or has gone extinct.

Let me be very clear about this, there is no evidence, none, that mitochondrial haplogroup U is found in the Native American population today that is NOT a result of post-contact admixture. In other words, in the burials that have been DNA tested, there is not one example in either North or South America of a burial carrying mitochondrial haplogroup U, or for that matter, male Y haplogroup R. Native American haplogroups found in the Americas remain subsets of mitochondrial haplogroups A, B, C, D and X and Y DNA haplogroups C and Q. Mitochondrial haplogroup M has potentially been found in one Canadian burial. No other haplogroups have been found. Until pre-contact remains are found with base haplogroups other than the ones listed above, no one can ethically claim that other haplogroups are of Native American origin. Finding any haplogroup in a contemporary Native population does not mean that it was originally Native, or that it should be counted as such. Admixture and adoption have been commonplace since Europeans first set foot on the soil of the Americas.

Now let’s talk about the Y DNA of MA-1.

The authors state that MA-1’s results are found very near the base of haplogroup R. They note that the sister lineage of haplogroup R, haplogroup Q, is the most common haplogroup in Native Americans and that the closest Eurasian Q results to Native Americans come from the Altai region.

The testing of the MA-1 Y chromosome was much more extensive than the typical STR genealogy tests taken by consumers today. MA-1’s Y chromosome was sequenced at 5.8 million base pairs at a coverage of 1.5X.

The resulting haplotree is shown below, again from the supplementary material.

The current haplogroup distribution range for haplogroup R is shown below, again with comparison points as black dots.

The current distribution range for Eurasian haplogroup Q is shown on the map below. Haplogroup Q is the most common haplogroup in Native Americans.

Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians^{2, 13}.

Kennewick Man is probably the most famous of the skeletal remains that don’t neatly fit into their preconceived box. Kennewick man was discovered on the bank of the Columbia River in Kennewick, Washington in 1996 and is believed to be from 7300 to 7600 years old. His anatomical features were quite different from today’s Native Americans and his relationship to ancient people is unknown. An initial evaluation and a 2010 reevaluation of Kennewick Man let to the conclusion by Doug Owsley, a forensic anthropologist, that Kennewick Man most closely resembles the Ainu people of Japan who themselves are a bit of an enigma, appearing much more Caucasoid than Asian. Unfortunately, DNA sequencing of Kennewick Man originally was ussuccessful and now, due to ongoing legal issues, more technologically advanced DNA testing has not been allowed. Nova sponsored a facial reconstruction of Kennewick Man which you can see here.

Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago¹⁴, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

In addition to the sequencing they set forth above, the authors compared the phenotype information obtainable from MA-1 to the Tyrolean Iceman, typically called Otzi. You can see Otzi’s facial reconstruction along with more information here. This is particularly interesting in light of the pigmentation change from darker skin in Africa to lighter skin in Eurasia, and the question of when this appearance change occurred. MA-1 shows a genetic affinity with the contemporary people of northern Europe, the population today with the highest frequency of light pigmentation phenotypes. The authors compared the DNA of MA-1 with a set of 124 SNPs identified in 2001 by Cerquira as informative on skin, hair and eye pigmentation color, although they also caution that this method has limited prediction accuracy. Given that, they say that MA-1 had dark hair, skin and eyes, but they were not able to sequence the full set of SNPs. MA-1 also had the SNP value associated with a high risk of male pattern baldness, a trait seldom found in Native American people and was not lactose tolerant, a trait found in western Eurasians. MA-1 also does not carry the mutation associated with hair thickness and shovel shaped incisors in Asians.

The chart below from the supplemental material shows the comparison with MA-1 and the Tyrolean Iceman.

The Tarim Mummies, found in the Tarim Basin in present-day Xinjiang, China are another example of remains that seem out of place. The earliest Tarim mummies, found at Qäwrighul and dated to 1800 BCE, are of a Europoid physical type whose closest affiliation is to the Bronze Age populations of southern Siberia, Kazakhstan, Central Asia, and the Lower Volga.

The cemetery at Yanbulaq contained 29 mummies which date from 1100–500 BCE, 21 of which are Mongoloid—the earliest Mongoloid mummies found in the Tarim Basin—and eight of which are of the same Europoid physical type found at Qäwrighul.

Notable mummies are the tall, red-haired “Chärchän man” or the “Ur-David” (1000 BCE); his son (1000 BCE), a small 1-year-old baby with brown hair protruding from under a red and blue felt cap, with two stones positioned over its eyes; the “Hami Mummy” (c. 1400–800 BCE), a “red-headed beauty” found in Qizilchoqa; and the “Witches of Subeshi” (4th or 3rd century BCE), who wore 2-foot-long (0.61 m) black felt conical hats with a flat brim. Also found at Subeshi was a man with traces of a surgical operation on his neck; the incision is sewn up with sutures made of horsehair.

Their costumes, and especially textiles, may indicate a common origin with Indo-European neolithic clothing techniques or a common low-level textile technology. Chärchän man wore a red twill tunic and tartan leggings. Textile expert Elizabeth Wayland Barber, who examined the tartan-style cloth, discusses similarities between it and fragments recovered from salt mines associated with the Hallstatt culture.

DNA testing revealed that the maternal lineages were predominantly East Eurasian haplogroup C with smaller numbers of H and K, while the paternal lines were all R1a1a. The geographic location of where this admixing took place is unknown, although south Siberia is likely. You can view some photographs of the mummies here.

In closing, the authors of the MA-1 paper state that the study has four important implications.

First, we find evidence that contemporary Native Americans and western Eurasians shareancestry through gene flow from a Siberian Upper Palaeolithic population into First Americans.

Second, our findings may provide an explanation for the presence of mtDNA haplogroup X in Native Americans, which is related to western Eurasians but not found in east Asian populations.

Third, such an easterly presence in Asia of a population related to contemporary western Eurasians provides a possibility that non-east Asian cranial characteristics of the First Americans derived from the Old World via migration through Beringia, rather than by a trans-Atlantic voyage from Iberia as proposed by the Solutrean hypothesis.

Fourth, the presence of an ancient western Eurasian genomic signature in the Baikal area before and after the LGM suggests that parts of south-central Siberia were occupied by humans throughout the coldest stages of the last ice age.

The times, they are a changin’.

Dr. Michael Hammer’s presentation at the 9^th Annual International Conference on Genetic Genealogy may shed some light on all of this seeming confusing and somewhat conflicting information.

The graphic below shows the Y haplogroup base tree as documented by van Oven.

You can see, in the lower right corner, that Y haplogroup K (not to be confused with mtDNA haplogroup K discussed in conjunction with mtDNA haplogroup U) was the parent of haplogroup P which is the parent of both haplogroups Q and R.

It has always been believed that haplogroup R made its way into Europe before the arrival of Neolithic farmers about 10,000 years ago. However, that conclusion has been called into question, also by the use of Ancient DNA results. You can view additional information about Hammer’s presentation here, but in a nutshell, he said that there is no early evidence in burials, at all, for haplogroup R being in Europe at an early age. In about 40 burials from several location, haplogroup R has never been found. If it were present, especially in the numbers expected given that it represents more than half of the haplogroups of the men of Europe today, it should be represented in these burials, but it is not. Hammer concludes that evidence supports a recent spread of haplogroup R into Europe about 5000 years ago. Where was haplogroup R before spreading into Europe? In Asia.

It appears that haplogroup K diversified in Southeast Asian, giving birth to haplogroups P, Q and R. Dr. Hammer said that this new information, combined with new cluster information and newly discovered SNP information over the past two years requires that haplogroup K be significantly revised. Between the revision of haplogroup K, the parent of both haplogroup R, previously believed to be European, and haplogroup Q, known to be Asian, European and Native, we may be in for a paradigm shift in terms of what we know about ancient migrations and who is whom. This path for haplogroup R into Europe really shouldn’t be surprising. It’s the exact same distribution as haplogroup Q, except haplogroup Q is much less frequently found in Europe than haplogroup R.

What Can We Say About MA-1?

In essence, we can’t label MA-1 as paternally European because of Y haplogroup R which now looks to have had an Asian genesis and was not known to have been in Europe 24,000 years ago, only arriving about 5,000 years ago. We can’t label haplogroup R as Native American, because it has never been found in a pre-Columbian New World burial.

We can say that mitochondrial haplogroup U is found in Europe in Hunter-Gatherer groups six thousand years ago (R was not) but we really don’t know if haplogroup U was in Europe 24,000 years ago. We cannot label haplogroup U as Native because it has never been found in a pre-Columbian New World burial.

We can determine that MA-1 did have ancestors who eventually became European due to autosomal analysis, but we don’t know that those people lived in what is now Europe 24,000 years ago. So the migration might have been into Europe, not out of Europe. MA-1, his ancestors and descendants, may have lived in Asia and subsequently settled in Europe or lived someplace inbetween. We can determine that MA-1’s line of people eventually admixed with people from East Asia, probably in Siberia, and became today’s First People of North and South America.

We can say that MA-1 appears to have been about 30% what is today Western Eurasian and that he is closely related to modern day Native Americans, but not eastern Asians. The authors estimate that between 14% and 38% of Native American ancestry comes from MA-1’s ancient population.

Whoever thought we could learn so much from a 4 year old?

For anyone seriously interested in Native American population genetics, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” is a must read.

It’s been a great month for ancient DNA. Additional recent articles which pertain to this topic include:

http://www.nytimes.com/2013/11/21/science/two-surprises-in-dna-of-boy-found-buried-in-siberia.html?src=me&ref=general&_r=0

http://www.sciencedaily.com/releases/2013/11/131120143631.htm

http://dienekes.blogspot.com/2013/11/ancient-dna-from-upper-paleolithic-lake.html

http://blogs.discovermagazine.com/gnxp/2013/11/long-first-age-mankind/#.Uo0eOcSkrIU

http://cruwys.blogspot.com/2013/11/day-1-at-royal-societys-2013-ancient.html

http://cruwys.blogspot.co.uk/2013/11/day-2-at-royal-societys-2013-ancient.html

http://www.sciencedaily.com/releases/2013/11/131118081251.htm

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Genographic Consortium Publications

Posted on November 15, 2013 by Roberta Estes

During the Family Tree DNA Conference, Dr. Miguel Vilar, the Scientific Data Manager for the Explorer Programs was kind enough to give us an update on the Genographic project. One of the things that he mentioned was that no overarching paper had been written about the completed Geno 1.0 phase of the project, although that has been discussed. He did say that a total of 42 papers have been written by the Genographic Consortium as the result of the Genographic project, to date, and that there are several more in the pipeline.

As follow-up to that comment, Dr. Vilar was kind enough to provide a list of the papers along with a short description of the findings in each one. Thank you to both Dr. Vilar and National Geographic for sharing.

Personally, I take a great deal of pleasure and satisfaction in knowing that I was (and am) in a cumulative way a small part of this amazing, ongoing project. For anyone who has not yet, but would like to participate in testing, the Genographic 2.0 project is ongoing.

The Genographic Consortium has published 42 scientific papers, and other manuscripts are in advanced stages of preparation. Below are the titles and references plus short descriptions of the major findings, compliments of Dr. Vilar.

2007

1. Behar, D. M., Rosset, S., Blue-Smith, J., Balanovsky, O., Tzur, S., Comas, D., Mitchell, R. J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S., and The Genographic Consortium. 2007. The Genographic Project public participation mitochondrial DNA database. PLoS Genetics 3: 1083-1095.

This paper establishes Genographic’s database as the new standard mtDNA data repository and reports a new “Nearest Neighbor” statistical method for improved haplogroup classification, presenting learned experience from the public part of the project. It also makes publicly available a portion of the Genographic database, a process that will continue throughout project duration. This technical paper has been crucial in establishing the project’s importance in the scientific community.

2008

2. Gan, R. J., Pan, S. L., Mustavich, L. F., Qin, Z. D., Cai, X. Y., Qian, J., Liu, C. W., Peng, J. H., Li, S. L., Xu, J. S., Jin, L., Li, H., and The Genographic Consortium. 2008. Pinghua population as an exception of Han Chinese’s coherent genetic structure. Journal of Human Genetics 53: 303-313.

The Han Chinese are the largest ethnic group in the world with more than 1.3 billion people, comprising 19 percent of the world population. Chinese is the language spoken by this ethnic group, which can be classified into 10 major dialects. This paper focuses on studying the genetic structure of the people speaking one of these dialects, the Pinghua people. When the genetic structure of Pinghua people was compared to the rest of the Han Chinese populations, it was observed that Pinghua populations did not directly descend from Han Chinese, who originated in the north, but from other southern populations. Thus, from a genetic point of view, the Pinghua populations represent an exception to the rest of Han Chinese populations. These results can be explained if ancestral populations of Pinghua people were not replaced by Han Chinese population, but if they assimilated the Han Chinese language and culture.

3. Zalloua, P. A., Xue, Y., Khalife, J., Makhoul, N., Debiane, L., Platt, D. E., Royyuru, A. K., Herrera, R. J., Soria Hernanz, D. F., Blue-Smith, J., Wells, R. S., Comas, D., Bertranpetit, J., Tyler-Smith, C., and The Genographic Consortium. 2008. Y-chromosomal diversity in Lebanon is structured by recent historical events. American Journal of Human Genetics 82: 873-882.

Lebanon is a small country in the Middle East inhabited by almost 4 million people from a wide variety of ethnicities and religions. The results of this paper indicate that male genetic variation within Lebanon is strongly structured by religion. This unusual situation can be accounted for by two major known historical migrations into Lebanon. The Islamic expansion from the Arabian Peninsula beginning in the 7th century introduced genetic lineages typical of the Arabian peninsula into Lebanese Muslims, while the crusader activity in the 11th-13th centuries introduced Western European lineages into Lebanese Christians.

4. Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R., Makkan, H., Tzur, S., Comas, D., Bertranpetit, J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S., Rosset, S., and The Genographic Consortium. 2008. The dawn of human matrilineal diversity. American Journal of Human Genetics 82: 1130-1140.

African genetic diversity is unlike that found anywhere else in the world. This paper seeks to make sense of some of the most fundamental questions surrounding our earliest ancestors on the continent. Where specifically did we originate in Africa? Was it from a single group or the result of many? When do we first see African lineages appear outside of Africa? About 350 novel mitochondrial whole-genome sequences were included — doubling the existing published dataset — and the paper presented a new tree of African mtDNA diversity, reporting many novel African lineages for the first time. This paper provides an age estimate for the earliest split of humans in East Africa as one group headed south and was subsequently isolated. It explains that all humans came from a single population that split into two groups, shows that more than 99 percent of all living humans descend from one of these two groups, and suggests historical reasons for why genetic mixture did not exist between these ancient populations. It also presents evidence for the emergence of these early lineages into the Middle East and the origins of the two major non-African groups, M and N, respectively. The paper received considerable media attention — approximately 275 articles — including substantial pieces in the Economist and on CNN/BBC online.

5. Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L., Wells, R. S., and The Genographic Consortium. 2008. A novel 154-bp deletion in the human mitochondrial DNA control region in healthy
individuals. Human Mutation 29: 1387-1391.

This paper describes a novel deletion of 154 base pairs within the control region of the human mitochondrial genome that was originally identified in an anonymous Japanese public participant. It was demonstrated that this deletion is a heritable character since it was transmitted from the participant’s mother to her two sons. This is the first time that such a large deletion located in this specific portion of the control region has been observed to not have negative effects in the health of the carriers. The identification of this large heritable deletion in healthy individuals challenges the current view of the control region as playing a crucial role in the replication and regulation of the mitochondrial genome. It is anticipated that this finding will lead to further research on the reported samples in an attempt to increase our understanding of the role of specific sequences within the control region for mtDNA replication. Finally, this paper illustrates the importance of creating a large database of human genetic variation in order to discover rare genetic variants that otherwise would remain unidentified. The discovery of such rare mtDNA haplotypes will be important to identifying the relative power of adaptive and non-adaptive forces acting on the evolution of the mtDNA genome.

6. Parida, L., Melé, M., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2008. Estimating the ancestral recombinations graph (ARG) as compatible networks of SNP patterns. Journal of Computational Biology 15: 1133-1153.

Traditionally the nonrecombinant, maternally inherited (mtDNA) and paternally inherited (Y chromosome) genomes have been widely used for phylogenetic and evolutionary studies in humans. However, these two genomes only represent 1 percent of the total genetic variation within an individual, and sampling just these two loci is inadequate to reconstruct with any precision the time-depth and pattern of human evolution. The scope of this paper is to elaborate on a mathematical algorithm that includes recombination patterns among human populations. This approach will allow us to use the rest of the recombining genome to reconstruct more accurately the patterns of human migration.

7. Rossett, S., Wells, R. S., Soria-Hernanz, D. F., Tyler-Smith, C., Royyuru, A. K., Behar, D. M., and The Genographic Consortium. 2008. Maximum-likelihood estimation of site-specific mutation rates in human mitochondrial DNA from partial phylogenetic classification. Genetics 180: 1511-1524.

This paper presents novel algorithms to estimate how frequently each base pair of the hypervariable region of the mtDNA changes. Implementations of these algorithms will help to better investigate functionality in the mtDNA and improve current classification of mtDNA haplogroups.

8. Zalloua, P. A., Platt, D. E., El Sibai, M., Khalife, J., Makhoul, N., Haber, M., Xue, Y., Izaabel, H., Bosch, E., Adams, S. M., Arroyo, E., López-Parra, A. M., Aler, M., Picornell, A., Ramon, M., Jobling, M. A., Comas, D., Bertranpetit, J., Wells, R. S., Tyler-Smith, C., and The Genographic Consortium. 2008. Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. American Journal of Human Genetics 83: 633-642.

The Phoenicians gave the world the alphabet and a love of the color purple, and this study shows that they left some of their genes as well. The paper shows that as many as one in 17 men in the Mediterranean basin may have a Phoenician as a direct male-line ancestor, using a novel analytical method for detecting the subtle genetic impact of historical population migrations. Its first application has been to reveal the genetic legacy of the Phoenicians, an intriguing and mysterious first-millennium B.C. trading empire. From their base in present-day Lebanon, the Phoenicians expanded by sea throughout the Mediterranean, founding colonies as far as Spain and North Africa, where their most powerful city, Carthage, was located. The world’s first “global capitalists,” the Phoenicians controlled trade throughout the Mediterranean basin for nearly a thousand years until their conquest by Rome in the 2nd century B.C. Over the ensuing centuries, much of what was known about this enigmatic people was lost or destroyed. This paper received substantial international and domestic press coverage, including an article in The New York Times.

2009

9. Parida, L., Javed, A., Melé, M., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2009. Minimizing recombinations in consensus networks for phylogeographic studies. BMC Bioinformatics 10: Article S72.

This paper implements a new mathematical model to identify recombination spots in human populations to infer ancient recombination and population-specific recombination on a portion of the X chromosome. The results support the widely accepted out-of-Africa model of human dispersal, and the recombination patterns were capable of detecting both continental and population differences. This is the first characterization of human populations based on recombination patterns.

10. El-Sibai, M., Platt, D. E., Haber, M., Xue, Y., Youhanna, S. C., Wells, R. S., Izaabel, H., Sanyoura, M. F., Harmanani, H., Ashrafian Bonab, M., Behbehani, J., Hashwa, F., Tyler-Smith, C., Zalloua, P. A., and The Genographic Consortium. 2009. Geographical structure of the Y-chromosomal genetic landscape of the Levant: A coastal-inland contrast. Annals of Human Genetics 73: 568-581.

This paper examines the male-specific phylogeography of the Levant and its surroundings. The Levant lies in the eastern Mediterranean region, south of the mountains of south Turkey and north of the Sinai Peninsula. It was found that the Levantine populations cluster together when considered against a broad Middle-East and North African background. However, within Lebanon there is a coastal-inland (east-west) pattern in the diversity and frequency of several Y haplogroups. This pattern is likely to have arisen from differential migrations, with different lineages introduced from the east and west.

2010

11. Haak, W., Balanovsky, O., Sanchez, J. J., Koshel, S., Zaporozhchenko, V., Adler, C. J., Der Sarkissian, C. S. I., Brandt, G., Schwarz, C., Nicklisch, N., Dresely, V., Fritsch, B., Balanovska, E., Villems, R., Meller, H., Alt, K. W., Cooper, A., and The Genographic Consortium. 2010. Ancient DNA from European Early Neolithic farmers reveals their Near Eastern affinities. PLoS Biology 8: Article e1000536.

The nature and speed of the Neolithic transition in Europe is a matter of continuing debate. In this paper, new genetic analyses based on ancient human remains from the earliest farming culture in Central Europe known as the Linear Pottery Culture (5,500-4,900 years ago) indicate a shared genetic maternal affinity with modern-day Near East and Anatolia, and therefore they likely came from the Middle East. However, these lineages from the earliest agriculturalists were also distinct from the current genetic lineages observed in European populations, indicating that major demographic events continued in Europe during the Neolithic. These results point out the importance of using ancient DNA to better understand past demographic events.

12. Melé, M., Javed, A., Pybus, M., Calafell, F., Parida, L., Bertranpetit, J., and The Genographic Consortium. 2010. A new method to reconstruct recombination events at a genomic scale. PLoS Computational Biology 6: Article e1001010.

A chromosomal recombination event creates a junction between two parental sequences. These recombinant sequences are transmitted to subsequent generations, and recombination is one of the main forces molding human genetic diversity. However, the information about genetic relationships among populations given by these events is usually overlooked due to the analytical difficulty of identifying the history of recombination events. This paper validates and calibrates the IRiS software for inferring the history of recombination events, allowing the creation of novel recombinational “markers” known as recotypes, which can be analyzed in a similar way to standard mutational markers.

13. Qin, Z., Yang, Y., Kang, L., Yan, S., Cho, K., Cai, X., Lu, Y., Zheng, H., Zhu, D., Fei, D., Li, S., Jin, L., Li, H., and The Genographic Consortium. 2010. A mitochondrial revelation of early human migrations to the Tibetan Plateau before and after the Last Glacial Maximum. American Journal of Physical Anthropology 143: 555-569.

The Tibetan Plateau was long considered one of the last areas to be populated by modern humans. Recent archaeological, linguistic and genetic findings have challenged this view. In this paper, maternal lineages of 562 individuals from nine different regions within Tibet have been analyzed to further investigate the timing and routes of entry of humans into the plateau. The maternal diversity in Tibet primarily reflects northern East Asian ancestry, likely reflecting a population expansion from this region into the plateau prior to the Last Glacial Maximum (LGM) ~18,000 years ago. In addition, the highest diversity was concentrated in the southern part of the plateau, indicating that this region probably acted as a population refugium during the LGM and the source of a post-LGM expansion within the plateau.

14. Zhadanov, S. I., Dulik, M. C., Markley, M., Jennings, G. W., Gaieski, J. B., Elias, G., Schurr, T. G., and The Genographic Project Consortium. 2010. Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. American Journal of Physical Anthropology 142: 579-589.

The biological ancestry of the Seaconke Wampanoag tribe, a group of Native American clans in southern Massachusetts, reflects the genetic consequences of epidemics and conflicts during the 16^th century that decimated their population, reducing them from an estimated 12,000 individuals at the beginning of the century to less than 400 at the end. The majority of the paternal and maternal lineages in present-day Seaconke Wampanoag, however, belong to West Eurasian and African lineages, revealing the extensive interactions with people from different ancestries that settled the region during the past four centuries.

2011

15. Adler, C. J., Haak, W., Donlon, D., Cooper, A., and The Genographic Consortium. 2011. Survival and recovery of DNA from ancient teeth and bones. Journal of Archaeological Science 38: 956-964.

The recovery of genetic material from ancient human remains depends on the sampling methods used as well as the environment where the human material was preserved. The results presented in this study quantify the damage caused to ancient DNA by various methods of sampling teeth and bones. The negative impact is minimized if very low drill speeds are used during DNA extraction, increasing both the quantity and quality of material recovered. In addition, the mtDNA content of tooth cementum was five times higher than other commonly used methods, making this component the best place to sample ancient DNA. These conclusions will help to guide future sampling of DNA from ancient material.

16. Haber, M., Platt, D. E., Badro, D. A., Xue, Y., El-Sibai, M., Ashrafian Bonab, M., Youhanna, S. C., Saade, S., Soria-Hernanz, D. F., Royyuru, A., Wells, R. S., Tyler-Smith, C., Zalloua, P. A., and The Genographic Consortium. 2011. Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon. European Journal of Human Genetics 19: 334-340.

Cultural patterns frequently leave genetic traces. The aim of this study was to explore the genetic signature of the establishment of religious communities in a region where some of the most influential world religions originated, using the Y chromosome as an informative male-lineage marker. The analysis shows that the religions in Lebanon were adopted within already distinguishable communities. Differentiation appears to have begun before the establishment of Islam and Christianity, dating to the Phoenician period, and isolation continued during the period of Persian domination. Religious affiliation served to reinforce the genetic signatures of pre-existing population differentiation.

17. Martínez-Cruz, B., Ziegle, J., Sanz, P., Sotelo, G., Anglada, R., Plaza, S., Comas, D., and The Genographic Consortium. 2011. Multiplex single-nucleotide polymorphism typing of the human Y chromosome using TaqMan probes. Investigative Genetics 2: Article 13.

This paper presents a robust and accurate Y-chromosome multiplex assay that can genotype in a single reaction 121 markers distinguishing most of the haplogroups and subhaplogroups observed in European populations. The assay was >99 percent accurate in assigning haplogroups, minimizing sample handling errors that can occur with several independent TaqMan reactions.

18. Jota, M. S., Lacerda, D. R., Sandoval, J. R., Vieira, P. P. R., Santos-Lopes, S. S., Bisso-Machado, R., Paixão-Cortes, V. R., Revollo, S., Paz-y-Miño, C., Fujita, R., Salzano, F. M., Bonatto, S. L., Bortolini, M. C., Tyler-Smith, C., Santos, F. R., and The Genographic Consortium. 2011. A new subhaplogroup of Native American Y-chromosomes from the Andes. American Journal of Physical Anthropology (published online Sept. 13, 2011.)

Almost all Y chromosomes in South America fall into a single haplogroup, Q1a3a. This paper presents a new single nucleotide polymorphism (SNP) in the Q1a3a lineage that is specific to Andean populations, allowing more accurate inferences of the population history of this region. This novel marker is estimated to be ~5,000 years old, consistent with an ancient settlement of the Andean highlands.

19. Yan, S., Wang, C. C., Li, H., Li, S. L., Jin, L., and The Genographic Consortium. 2011. An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. European Journal of Human Genetics 19: 1013-1015.

Y-chromosome Haplogroup O is the dominant Y-chromosome lineage in East Asians, carried by more than a quarter of all males on the world. This study revises the haplogroup O phylogeny, using several recently discovered markers. The newly generated tree for this haplogroup will lead to a more detailed understanding of the population history of East Asia.

20. Yang, K., Zheng, H., Qin, Z., Lu, Y., Farina, S. E., Li, S., Jin, L., Li, D., Li, H., and The Genographic Consortium. 2011. Positive selection on mitochondrial M7 lineages among the Gelong people in Hainan. Journal of Human Genetics 56: 253-256.

The Gelong people migrated in the last 1,000 years from Guizhou province in southern China to Hainan island (the hottest province in China). The genetic structure of the Gelong people showed a clearly sex-biased pattern of admixture with the indigenous Hainan population (Hlai people), with 30.7 percent of the maternal lineages being of Hainan origin in contrast to 4.9 percent of the paternal lineages. This striking pattern is partially explained through the action of selection on the M7 Hainan autochthonous maternal lineages, leading to their expansion in the admixed population. This may be due to some selective advantage provided by the M7 lineages in the tropical Hainan climate. Future whole mtDNA genome sequencing of these M7 lineages may reveal their functional relevance and the mechanism involved in human adaptation to tropical climates.

21. Balanovsky, O., Dibirova, K., Dybo, A., Mudrak, O., Frolova, S., Pocheshkhova, E., Haber, M., Platt, D., Schurr, T., Haak, W., Kuznetsova, M., Radzhabov, M., Balaganskaya, O., Druzhinina, E., Zakharova, T., Soria Hernanz, D. F., Zalloua, P., Koshel, S., Ruhlen, M., Renfrew, C., Wells, R. S., Tyler-Smith, C., Balanovska, E., and The Genographic Consortium. 2011. Parallel evolution of genes and languages in the Caucasus region. Molecular Biology and Evolution 28: 2905-2920.

The Caucasus region harbors some of the highest linguistic diversity on Earth, leading to the moniker “The Mountain of Languages.” To investigate the forces that may have molded Caucasian linguistic patterns, the Genographic team studied Y-chromosome variation in 1,525 men from 14 populations in the Caucasus. The Y-chromosome lineages found in the Caucasus originated in the Near East and were introduced to the Caucasus in the late Upper Paleolithic or early Neolithic periods. This initial settlement was followed by a high degree of population isolation due to the mountainous terrain. Comparisons between the genetic and linguistic trees showed a striking correspondence between the topology and divergence times for the two, revealing a parallel evolution of genes and languages in the Caucasus in the past few millennia. This high degree of correspondence between genetic and linguistic patterns has not been seen in other regions of the world.

22. Gaieski, J. B., Owings, A. C., Vilar, M. G., Dulik, M. C., Gaieski, D. F., Gittelman, R. M., Lindo, J., Gau, L., Schurr, T. G., and The Genographic Consortium. 2011. Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. American Journal of Physical Anthropology 146: 392-405.

Bermuda is an isolated group of islands in the middle of the Atlantic settled during the 17^th century by Western Europeans along with African and Native American slaves. The pattern of Y-chromosome and mitochondrial DNA diversity was studied in 111 members of a “native” community on St. David’s Island. Two-thirds of the paternal lineages are of European origin, while two-thirds of the mitochondrial DNA lineages are African. In contrast to other English-speaking communities in the Americas, however, the majority of St. David’s maternal lineages appear to derive from central and southern Africa, regions that historically were controlled by Portuguese slave traders. It is likely that the English settlers of Bermuda obtained slaves from these Portuguese sources. Despite genealogical records and oral traditions indicating significant arrivals of Native Americans as labor force, the proportion of Native American lineages was less than 2 percent on both the paternal and maternal sides. This study gives new insights into the complex history of colonization and migration in the Caribbean.

23. Cai, X., Qin, Z., Wen, B., Xu, S., Wang, Y., Lu, Y., Wei, L., Wang, C., Li, S., Huang, X., Jin, L., Li, H., and The Genographic Consortium. 2011. Human Migration through bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum revealed by Y chromosomes. PLoS ONE 6: e24282. doi:10.1371/journal.pone.0024282

The number and timing of the initial migrations to East Asia remain unresolved. This paper studied the Y-chromosome diversity in Mon-Khmer (MK)- and Hmong-Mien (HM)-speaking populations who are believed to be the source populations of other East Asians. The pattern of diversity for the O3a3b-M7 and O3a3c1-M117 lineages among MK, HM and other East Asian populations suggests an early unidirectional diffusion from Southeast Asia northward into East Asia around the time of the Last Glacial Maximum (~18,000 years ago). The ancestral population sizes of these first colonizers are believed to have gone through drastic reductions due to the barriers imposed by the geographic conditions (mountains and jungle) and the colder climate at the time of the migration. This “serial bottleneck” effect has left a distinctive genetic pattern in the present-day populations of East Asia, revealing their past demographic history.

24. Melé, M., Javed, A., Pybus, M., Zalloua, P., Haber, M., Comas, D., Netea, M. G., Balanovsky, O., Balanovska, E., Jin, L., Yang, Y., Pitchappan, R. M., Arunkumar, G., Parida, L., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2011. Recombination gives a new insight in the effective population size and the history of the Old World human populations. Molecular Biology and Evolution (published online Sept. 1, 2011.) doi:10.1093/molbev/msr213

The IRiS method (described in paper 12) was used to assess the patterns of recombination on the X chromosome in 30 populations from Africa, Europe and Asia. The results suggest that the ancestors of non-African populations first left Africa in a single coastal migration across the Bad-el-Mandeb strait rather than through the Sinai Peninsula. The method allowed the team to estimate that sub-Saharan ancestral population sizes were four times greater than those in populations outside of Africa, while Indian ancestral sizes were the greatest among Eurasians. These results suggest that Indian populations played a major role in the expansions of modern humans to the rest of the world.

25. Javed, A., Melé, M., Pybus, M., Zalloua, P., Haber, M., Comas, D., Netea, M. G., Balanovsky, O., Balanovska, E., Jin, l., Yang, Y., Arunkumar, G., Pitchappan, R., Bertranpetit, J., Calafell, F., Parida, L., and The Genographic Consortium. 2011. Recombination networks as genetic markers in a human variation study of the Old World. Human Genetics (first published online Oct. 18, 2011.)

An expanded analysis of the recombination dataset published in abbreviated form in paper 24, analyzing three additional populations. The conclusions outlined in paper 24 are bolstered through the more thorough presentation of the results.

2012

26. Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B, Salaberria J, Oyharçabal B, Bauduer F, Comas D, Quintana-Murci L; Genographic Consortium. 2012. The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times. American Journal of Human Genetics 9;90(3):486-93.

This study focus on the maternal genetic diversity of Basques, the last European population to have kept a pre-Indo European language, to increase knowledge of the origins of the Basque people and, more generally, on the role of the Franco-Cantabrian refuge in the post-glacial repopulation of Europe. The maternal ancestry of 908 Basque and non-Basque individuals from the Great Basque Country and adjacent regions were studied plus 420 complete mtDNA genomes within haplogroup H. The results identified six mtDNAhaplogroups autochthonous to the Franco-Cantabrian region and, more specifically, to Basque-speaking populations. Further, expansion of these haplogroups were estimated at ~4,000 ybp with a separation from the general European gene pool to have happened ~8,000 ybp predating the Indo-European arrival to the region. Thus, the results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the indigenous Paleolithic settlers of their homeland.

27. Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D; the Genographic Consortium. Evidence of pre-Roman tribal genetic structure in Basques from uniparentally inherited markers. Molecular Biology and Evolution (published online March 12, 2012) doi: 10.1093/molbev/mss091.

Basques have received considerable attention from anthropologists, geneticists and linguists during the last century due to the singularity of their language and to other cultural and biological characteristics. Despite the multidisciplinary efforts performed to address the questions of the origin, uniqueness and heterogeneity of Basques, the genetic studies performed up to now have suffered from a weak study-design where populations are not analyzed in an adequate geographic and population context. To address the former questions and to overcome these design limitations, uniparental genomes (Y chromosome and mitochondrial DNA) of ~900 individuals from 18 populations were analyzed, including those where Basque is currently spoken and surrounding populations where Basque might have been spoken in historical times. Results situate Basques within the western European genetic landscape, although with less external influences than other Iberians and French populations. In addition, the genetic heterogeneity and structure observed in the Basque region results from pre-Roman tribal structure related to geography and is linked to the increased complexity of emerging societies during the Bronze Age. The rough overlap of tribal and current dialect limits supports the notion that the environmental diversity in the region has played a recurrent role in cultural differentiation and ethnogenesis at different time periods.

28. Kang, L., Lu, Y., Wang, C., Hu, K., Chen, F., Liu, K., Li, S., Jin, L., Li, H., and The Genographic Consortium. 2012. Y-chromosome O3 Haplogroup diversity in Sino-Tibetan populations reveals two migration routes into the Eastern Himalayas. Annals of Human Genetics 76: 92–99.

This paper further explores the question of how Himalayas was populated by studying the genetic diversity of the paternal lineages of two ethnic groups from the eastern Himalayas: the Luoba and Deng. These two Sino-Tibetan speaking groups exhibited a distinct genetic composition indicating different genetic origins. The paternal diversity of the Louba people indicates past gene flow from Tibetans as well as from western and north Eurasian people. In contrast, Deng exhibited lineages similar to most of Sino-Tibetans from the east. The overall lowest diversity observed in the eastern Himalayas suggests that this area was the end point of two migratory routes of Sino-Tibetans from north China around 2,000-3,000 years ago. These date estimates also agrees with the historical records.

29. Lu, Y., Wang, C., Qin, Z., Wen, B., Farina, S. E., Jin, L., Li, H., and The Genographic Consortium. 2012. Mitochondrial origin of the matrilocal Mosuo people in China. Mitochondrial DNA 23: 13–19

The Mosuo people currently live around the Lugu Lake on the border of the Yunan and Sichuan provinces of China and they are the last matrilocal population in the main land of the country. To investigate the maternal history of this ethnic group, partial genetic sequences of the mitochondria (a maternally inherited genome) were studied among Mosuo people and other larger surrounding ethnic groups. Groups with matrilocal traditions are expected to exhibited a lower mitochondrial genetic diversity because the movement of these genomes are reduced since woman remain within families after marriage. However, the results presented here did not reflect these expectations indicating that Mouso may have started practicing matrilocality long time ago, at least after the Paleolithic Age. In contrast to previous studies that showed a clear relationship between Mouso and Naxi people based on just mtDNA haplogroup frequencies, the network analyses presented here indicated clear clusters of individual sequences between Mouso and Pumi lineages. The genetic resemblance between these two group are concordant with other evidences from cultural and language studies. These results indicate that simply comparing haplogroups frequencies among ethnic groups may lead to erroneous conclusions and analyses comparing mtDNA sequences are better suitable for exploring genetic relationship among ethnic groups.

30. Haber M, Platt DE, Ashrafian Bonab M, Youhanna SC, Soria-Hernanz DF, Martínez-Cruz B, Douaihy B, Ghassibe-Sabbagh M, Rafatpanah H, Ghanbari M, Whale J, Balanovsky O, Wells RS, Comas D, Tyler-Smith C, Zalloua PA; The Genographic Consortium. 2012. Afghanistan’s Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events. PLoS ONE 7(3): e34288. doi:10.1371/journal.pone.0034288

This study focus on how Afghanistan’s ethnic groups relate to each others and with other populations from neighboring countries. The results presented indicated that major genetic differences among Afghanistan’s ethnic groups are relatively recent. The different modern ethnic groups share a genetic heritage probably formed during the Neolithic in the founding of the early farming communities. However, differentiation among the ethnic groups likely started during the Bronze Age driven by the establishment of the first civilizations. Later migrations and invasions to the region, gave the Afghans a unique genetic diversity in Central Asia.

31. Schurr, T. G., Dulik, M. C., Owings, A. C., Zhadanov, S. I., Gaieski, J. B., Vilar, M. G., Ramos, J., Moss, M. B., Natkong, F. and The Genographic Consortium. 2012. Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. American Journal of Physical Anthropology. (published online May 1, 2012) doi: 10.1002/ajpa.22068.

This manuscript gives new insights about the genetics of the linguistically distinctive Haida and Tlingit tribes of Southeast Alaska. More espcifically, this paper study the role that Southeast Alaska may have played in the early colonization of the Americas; the genetic relationships of Haida and Tlingit to other indigenous groups in Alaska and Canada; the relationship between linguistic and genetic data for populations assigned to the Na-Dene linguistic family; the possible influence of matrilineal clan structure on patterns of genetic variation in Haida and Tlingit populations; and the impact of European entry into the region on the genetic diversity of these indigenous communities. The analysis indicates that, while sharing a ‘northern’ genetic profile, the Haida and the Tlingit are genetically distinctive from each other. In addition, Tlingit groups themselves differ across their geographic range, in part due to interactions of Tlingit tribes with Athapaskan and Eyak groups to the north. The data also reveal a strong influence of maternal clan identity on mtDNA variation in these groups, as well as the significant influence of non-native males on Y-chromosome diversity. These results yield new details about the histories of the Haida and Tlingit tribes in this region.

32. Dulik, M. C., Owings, A. C., Zhadanov, S. I., Gaieski, J. B., Vilar, M. G., Schurr, T. G., and The Genographic Consortium. 2012. Y-chromosome analysis of native North Americans reveals new paternal lineages and genetic differentiation between Eskimo-Aleut and Dene speaking populations. Accepted for publication in April in PNAS.

The genetic origins of the linguistically diverse Native Americans and when they reached the Americas are questions that have been explored during the last several decades. This study provides new information to these questions by increasing the number of populations sampled and the genetic resolution used in the analyses Here, it is tested whether there is any correlation between genetic diversity from paternally inherited Y-chromosomes and native populations speaking the two distinctive linguistic families: Eskimo-Aleut and Na-Dene. The results indicate that the Y chromosome genetic diversity among the first Native American was greater than previously shown in other publications. In addition, the Eskimo-Aleut and Na-Dene speaking populations showed clear genetic differences between then. The disparities in language, culture and genetic diversity between these two populations likely reflect the outcome of two migrations that happened after the initial settlement of people into the Americas.

33. Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantiga T, van der Meer JWM, Comas D, Netea M, The Genographic Consortium. 2012. Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS ONE 7(7): e41803

The most famous Transylvanian prince is Vlad III from the Basarab royal dynasty, also commonly known as Dracula. The ethnic origins of the Basarab is intensively debated among historians and it is unclear of whether they are descendants of the Cuman people (an admixed Turkic people that reached Romania from the East in the 11^th century) or of Vlach people (local Romanians). This paper investigated the Y chromosome of 29 Romanian men carrying the surname Basarab and in order to identify their genetic origin the data was compared with four Romanian and other surrounding populations. Different Y-chromosome haplogroups were found within the individuals bearing the Basarab name, indicating that not all these individuals can be direct biological descendants of the Basarab dynasty. In addition, all these haplogroups are common in Romania and other Central and Eastern European populations. The Basarab group exhibited closer genetic distances with other Romanian populations. These results together with the absence of Eastern Asian paternal lineages in the Basarab men can be interpreted as a lack of evidence for a Cuman origin of this royal dynasty, although it cannot be positively ruled out. As a final conclusion, it seems that the Basarab dynasty was successful in spreading its name beyond the spread of its genes.

34. Rebala K, Martínez-Cruz B, Tönjes A, Kovacs P, Stumvoll M, Lindner I, Büttner A, Wichmann H-E, Siváková D, Soták M, Quintana-Murci L, Szczerkowska Z, Comas D, The Genographic Consortium. 2012. Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. European Journal of Human Genetics 21(4): 415-422

One of the most outstanding phenomena in the Y-chromosomal diversity in Europe concerns the sharp genetic border identified between the ethnically /linguistically defined Slavic (from Poland) and German populations (from Germany). The Polish paternal lineages also reveal great degree of homogeneity in spite of a relatively large geographic area seized by the Polish state. Two main explanations have been proposed to explain the phenomena: (i) Massive human resettlements during and shortly after the World War II, and (ii) an early medieval Slavic migrations that displayed previous genetic heterogeneity. In order to answer these questions, 1,156 individuals from several Slavic and German populations were analyzed, including Polish pre-war regional populations and an autochthonous Slavic population from Germany. This study demonstrates for the first time that the Polish paternal lineages were unevenly distributed within the country before the forced resettlements of millions of people during and shortly after the WWII. Finally, the coalescence analyses support hypothesis that the early medieval Slavic expansion in Europe was a demographic event rather than solely a linguistic spread of the Slavic language.

35. Arunkumar G, Soria-Hernanz DF, Kavitha VJ, Arun VS, Syama A, Ashokan KS, Gandhirajan KT, Vijayakumar K, Narayanan M, Jayalakshmi M, Ziegle JS, Royyuru AK, Parida L, Wells RS, Renfrew C, Schurr TG, Smith CT, Platt DE, Pitchappan R; Genographic Consortium. 2012. Population differentiation of southern Indian male lineages correlates with agricultural expansions predating the caste system. PLoS ONE. 7(11): e50269

Previous studies that pooled Indian populations from a wide variety of geographical locations, have obtained contradictory conclusions about the processes of the establishment of the Varna caste system. This study investigates the origin of the caste system by genotyping 1,680 Y chromosomes representing 12 tribal and 19 non-tribal (caste) populations from the Dravidian-speaking Tamil Nadu state in the southernmost part of India. 81% of Y chromosome were autochthonous Indian haplogroups (H-M69, F-M89, R1a1-M17, L1-M27, R2-M124, and C5-M356; 81% combined) with a shared genetic heritage dating back to the late Pleistocene (10-30 Kya). Results show a strong evidence for genetic structure, and coalescent analyses suggest that the stratification was established 4-6 thousand years ago, with little admixture took place during the last several millennia. The overall Y-chromosomal patterns, the time depth of population diversifications and the period of differentiation are best explained by the emergence of agricultural technology in South Asia. These results highlight the utility of detailed local genetic studies within India, without prior assumptions about the importance of Varna rank status for population grouping, to obtain new insights into the relative influences of past demographic events for the population structure of the whole of modern India.

2013

36. Badro DA, Douaihy B, Haber M, Youhanna SC, Salloum A, Ghassibe-Sabbagh M, Johnsrud B, Khazen G, Matisoo-Smith E, Soria-Hernanz DF, Wells RS, Tyler-Smith C, Platt DE, Zalloua PA, The Genographic Consortium. 2013. Y-chromosome and mtDNA genetics reveal significant contrasts in affinities of Modern Middle Eastern populations with European and African populations. PLoS ONE 8(1):e54616

The Middle East was a funnel of human expansion out of Africa, a staging area for the Neolithic Agricultural Revolution, and the home to some of the earliest world empires. In addition, post LGM expansions into the region and subsequent population movements have created a striking genetic mosaic in the region. In this study 5,174 mtDNA and 4,658 Y-chromosome samples were investigated. Lebanon’s mtDNA showed a very strong association to Europe, while Yemen shows very strong affinity with Egypt and North and East Africa. Previous Y-chromosome results showed a Levantine coastal-inland contrast marked by Y-haplogroups J1 and J2, and a very strong North African component was evident throughout the Middle East. Neither of these patterns were observed in the mtDNA. While J2 has penetrated into Europe, the pattern of Y-chromosome diversity in Lebanon does not show the widespread affinities with Europe, as indicated by the mtDNA data. Lastly, while each population shows evidence of historic expansions that now define the Middle East, Africa, and Europe, most Middle Eastern populations show distinctive mtDNA and Y-haplogroup characteristics that suggest long standing settlements with relatively little impact from other populations.

37. Der Sarkissian C, Balanovsky O, Brandt G, Khartanovich V, Buzhilova A, Koshel S, Zaporozhchenko V, Gronenborn D, Moiseyev V, Kolpakov E, Shumkin V, Alt KW, Balanovska E, Cooper A, Haak W, The Genographic Consortium. 2013. Ancient DNA reveals prehistoric gene-flow from Siberia in the complex human population history of North East Europe. PLoS Genetics 9(2): e1003296

Archaeological, anthropological, and genetic research of Northeastern European populations have revealed a series of influences from Western and Eastern Eurasia. While genetic data from modern-day populations is commonly used to make inferences about origins and past migrations, ancient DNA provides a powerful tool by giving a snapshot of the past genetic diversity. This study generated and analyzed 34 mitochondrial genotypes from the skeletal remains of three Mesolithic and the Early Metal Age (7,500 and 3,500 years ago) sites in northwest Russia. Comparisons of genetic data from ancient and modern-day populations revealed significant changes in the makeup of North East Europeans through time. Mesolithic foragers showed high frequencies and diversity of haplogroup U (U2e, U4, U5a), commonly observed in hunter-gatherers from Iberia to Scandinavia. In contrast, the presence of mitochondrial DNA haplogroups C, D, and Z in Early Metal Age individuals suggested genetic influx from central/eastern Siberia. This genetic dissimilarities between prehistoric and modern-day North East Europeans/Saami suggests a strong influence of post-Mesolithic migrations from Western Europe and subsequent population replacement/extinctions. This work demonstrated how ancient DNA can improve our understanding of human population movements across Eurasia.

38. Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Sarkissian CD, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, Luong K, Ho SY, Quintana-Murci L, Behar DM, Meller H, Alt KW, Cooper A, The Genographic Consortium. 2013. Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications 4:1764

Haplogroup H dominates present-day Western European mitochondrial DNA variability (>40%), yet was less common (~19%) among Early Neolithic farmers (~5450 BC) and virtually absent in Mesolithic hunter-gatherers. This project investigated maternal population history of modern Europeans by sequencing 39 complete haplogroup H mitochondrial genomes from ancient remains; and comparing this ‘real-time’ genetic data with cultural changes taking place between the Early Neolithic (~5450 BC) and Bronze Age (~2200 BC) in Central Europe. Results revealed that the current diversity and distribution of haplogroup H were largely established by the Mid Neolithic (~4000 BC), but with substantial genetic contributions from later pan-European cultures such as the Bell Beakers expanding out of Iberia in the Late Neolithic (~2800 BC). Newly dated haplogroup H genomes enabled the reconstruction of the evolutionary history of the haplogroup, and revealed a mutation rate 45% higher than previous estimates.

39. Elhaik E, Greenspan E, Staats S, Krahn T, Tyler-Smith C, Xue Y, Tofanelli S, Francalacci P, Cucca F, Pagani L, Jin L, Li H, Schurr TG, Greenspan B, Spencer Wells R, The Genographic Consortium. 2013. The GenoChip: a new tool for genetic anthropology. Genome Biology & Evolution 5(5): 1021-1031

The Genographic Project is an international effort aimed at charting human migratory history. The first phase of the project was focused on haploid DNA markers (Y-chromosome and mtDNA), while the current phase focuses on markers from across the entire genome using the newly created GenoChip. GenoChip was designed to enable higher resolution research into outstanding questions in genetic anthropology. It includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and it was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was also carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs with no health, medical, or phenotypic relevance, the GenoChip is a useful tool for genetic anthropology and human population genetics.

40. Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D, Pettener D; The Genographic Consortium. 2013. Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata. PLoS ONE 8(5): e65441

Italy played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia, shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern, this project analyzed the haploid markers in ∼900 individuals from across the Italian peninsula, Sardinia and Sicily. Results show a sex-biased pattern, indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure appeared through continental Italy, likely a result of historical and demographic events. In contrast, mitochondrial (maternal) diversity is distributed homogeneously in accordance with older pre-historic events, as was the presence of an Italian Refugium during the last glacial period in Europe.

41. Sandoval JR, Lacerda DR, Jota MS, Salazar-Granara A, Vieira PP, Acosta O, Cuellar C, Revollo S, Fujita R, Santos FR, The Genographic Consortium. 2013. The genetic history of indigenous populations of the Peruvian and Bolivian Altiplano: the legacy of the Uros. PLoS ONE 8(9): e73006

Since pre-Columbian times, different cultures established themselves around the Titicaca and Poopo Lakes. Yet by the time of Spanish colonization, the Inca Empire and the Aymara and Quechua languages were dominant in the region. This study focused on the pre-Columbian history of the Altiplano populations, particularly the Uros, which claim to be directly descend from the first settlers of the Andes. Results indicate that the Uros populations stand out among others in the Altiplano, while appearing more closely related to the Aymara and Quechua from Lake Titicaca and surrounding regions, than to the Amazon Arawaks. Moreover, the Uros populations from Peru and Bolivia are genetically differentiated from each other, indicating a high heterogeneity in this ethnic group. Lastly, the results support the distinctive ancestry for the Uros populations of Peru and Bolivia, likely derived from ancient Andean lineages, but further complicated by a partial replacement during more recent farming expansion, and the establishment of complex civilizations in the Andes, such as the Inca.

42. Brandt G, Haak W, Adler CJ, Roth C, Szécsényi-Nagy A, Karimnia S, Möller-Rieker S, Meller H, Ganslmeier R, Friederich S, Dresley V, Nicklish N, Pickrell JK, Siroko F, Reich D, Cooper A, Alt KW, The Genographic Consortium 2013. Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity. Science 342, no.6155: 257-261.

Genographic project scientists, in collaboration with archeologists from Germany, successfully sequenced and analyzed DNA from 364 individuals that lived in Central Europe between 5,500 and 1,500 BC. What they found was that the shift in the frequency of DNA lineages closely matched the changes and appearances of new Central European cultures across time. In other words, the people who lived in Central Europe 7,000 years ago had different DNA lineages than those that lived there 5,000 years ago, and again different to those that lived 3,500 years ago. Central Europe was dynamic place during the Bronze age, and the genetic composition of the people that lived there demonstrates that. Ultimately, Central Europe is a melting pot of genetic lineages from different prehistoric cultures that lived there at different periods of time, each new one partially replacing the one before it.

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2013 Family Tree DNA Conference Day 2

Posted on November 12, 2013 by Roberta Estes

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning. I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well. It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA. “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.” Smart woman, and thankfully for us, he went. But he had a roadblock. He felt there was a possibility that he could use the Y chromosome to solve the roadblock. Bennett called the author of one of the two papers published at that time, Michael Hammer. He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport. He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done. Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.” Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.” Let’s just say Bennett was no longer unemployed and the rest, as they say, is history. With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences. He says he doesn’t think we’re crazy. I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy. But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something. He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density. People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion. They did find that most basic structure of R tree did come from the near east. They looked at P311 as marker for expansion into Europe, wherever it was. Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time. However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture. If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature. There were 4 primary locations with skeletal remains. There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago. This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men? What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

U106 is clustered in Germany
L21 clustered in the British Isles
U152 has an Alps epicenter

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe. If you are shaking your head right about now and saying “huh?”…so were we.

Here is Dr. Hammer’s revised map of haplogroup dispersion.

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21. For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs. The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps. She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate. The administrator’s role has also changed on social media as opposed to just a FTDNA project admin. Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members. They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.” He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15. He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster. With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern. They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree. Tools don’t matter if the data isn’t there. In order to utilize the genealogy aspect, the genealogy info needs to be there. Will be enhancing the GEDCOM viewer. New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available. This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA. They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing. Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness. This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

Commitment to take genetic genealogy to the next level
Y draft tree
Constant updates to official tree
Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree. This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree? When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement. For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing. One child may inherit as little as 20% of the X and another 90%. Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1. Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done. New things will be rolling out in first and second quarter of next year.” Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

CLIA
CAP
AABB
NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time. This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013. Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now. Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013. Their target audience was twofold, genetic genealogy in general and also the Irish people. They posted things periodically to keep people interested. They also created a Facebook page. They announced free (sponsored) DNA tests and the traffic increased a great deal. Today ISOGG has a free DNA wiki page too. They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days. It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views. Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test. That’s his minute or two of fame! I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published. It’s free, open access, web based and the author retains the copyright.. www.surnamedna.com

Conceived in 2012, the first article was published in January 2013. Three papers published to date.

Encourage administrators to write and publish their research. This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive. Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important. It is a critical review, a keen eye and an encouraging tone. This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person. We discussed how to effectively use mtdna results and what they really mean. And you just never know what you’re going to discover. Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line. WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments. As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks. We took a few more photos with our friends and left looking forward to next year’s conference. Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike. Front row, left to right, me and Bennett Greenspan.

See y’all next year!!!

______________________________________________________________

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Legacy Tree Genealogists for genealogy research

2013 Family Tree DNA Conference Day 1

Posted on November 11, 2013 by Roberta Estes

This article is probably less polished than my normal articles. I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write. So you’re getting a spruced up version of my notes. There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do. Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry. Max thought about this and said, really, not. Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10^th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years. The list included about 20 or so early adopters. They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators. A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved. When Max noted the admins who were leaders and are no longer with us, he could barely speak. There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming. Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time. Her list of degrees would take a page or so. She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card. Then two months ago, Amy wound up sitting next to Max on another airplane. It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers. You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy? How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here. There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013. I blogged about this at the time.

She spoke a bit about the history of this issue.

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA? This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together. Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor. Is this a good thing or a bad thing? Some feel that it’s unethical and an invasion of the privacy of the father. But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved. DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely. Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907. These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation. “Three generations of imbeciles is enough.” I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names. The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived. Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options. 53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release. She notes that these were highly motivated people enrolled in a clinical study. Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant. Most people said they would participate if they were simply asked. So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this. I know several people who refused to participate in a research study because their results would not be returned to them personally. All they wanted was information and to be treated respectfully.

What the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well. What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status. It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA. He has two children. How does this affect his children? Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information. Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”. Henrietta Lacks was a poor African-American woman with ovarian cancer. At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research. She was never informed or released anything, but then they were following the protocols of the time. From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished. The genome was eventually fully sequenced and published. Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family? And how does or should this affect policy?

How does this affect genetic genealogy? Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics? Should you have to talk to family members before anyone DNA tests? Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy? How about when the original tester dies? Who has what rights and interests? What about the unborn? What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components. Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over. However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test. Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved. However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well. This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents. Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project. More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years. More than 360 ancient samples were collected across several different time periods. There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially. That’s for sure. “We are reshaping the tree in an enormous way.” What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year. The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree. Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.” This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging. I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA. Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population. This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America. Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years. Papers are coming within the next year about this.

They anticipate that interest will double within the next year. They expect that based on recent discoveries, the 2015 Y tree will be much larger yet. Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.” The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science. Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement. He contacted his birth mother as an adult. She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not. Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’ With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4^th grandparent by process of elimination. While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA. Here, Matt is discussing his children’s inheritance.

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why. Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous. The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds. Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue. Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives. This means that FTDNA’s Jewish “correction” seems to be working quite well. Of course, they do have a great family group with which to calibrate their product. Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish. The non-Jewish group had almost exactly the opposite results.

Jewish people have from 1500-2100 matches.
Interfaith 700-1100 (Jewish and non)
NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project. Jewish people match both Jewish and Interfaith families. NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting. This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried. One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions. Furthermore, the Jewish community has been endogamous longer than some of the other groups. Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable. I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central. In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held. There were several topics. Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended. We had a wide range of expertise in the group and answered many questions. One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well. In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups. This means they are listed on the “tree.” So sometimes public and private can simply be a matter of timing and discovery.

Here’s Bennett leading another roundtable discussion.

Session 7 – Dr. David Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur. He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition. He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology. Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y. It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well. Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers. This is not a test that a new customer would ever order. The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit. We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time. We all bring food or drink and sometimes pitch in to rent the room. We also spill out into the hallways where our impromptu “meetings” generally happen. And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see. Do we know how to party or what???

Here’s Linda Magellan working hard during the reception. I think she’s ordering the Big Y actually. We had several orders placed by admins during the conference.

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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Determining Ethnicity Percentages

Posted on October 19, 2013 by Roberta Estes

Recently, as a comment to one of my blog postings, someone asked how the testing companies can reach so far back in time and tell you about your ancestors. Great question.

The tests that reliably reach the furthest back, of course, are the direct line Y-Line and mitochondrial DNA tests, but the commenter was really asking about the ethnicity predictions. Those tests are known as BGA, or biogeographical ancestry tests, but most people just think of them or refer to them as the ethnicity tests.

Currently, Family Tree DNA, 23andMe and Ancestry.com all provide this function as a part of their autosomal product along with the Genographic 2.0 test. In addition, third party tools available at www.gedmatch.com don’t provide testing, but allow you to expand what you can learn with their admixture tools if you upload your raw data files to their site. I wrote about how to use these ethnicity tools in “The Autosomal Me” series. I’ve also written about how accurate ethnicity predictions from testing companies are, or aren’t, here, here and here.

But today, I’d like to just briefly review the 3 steps in ethnicity prediction, and how those steps are accomplished. It’s simple, really, in concept, but like everything else, the devil is in the details.

There are three fundamental steps.

Creation of the underlying population data base.
Individual DNA extraction.
Comparison to the underlying population data base.

Step 1: Creation of the underlying population data base.

Don’t we wish this was as simple as it sounds. It isn’t. In fact, this step is the underpinnings of the accuracy of the ethnicity predictions. The old GIGO (garbage in, garbage out) concept applies here.

How do researchers today obtain samples of what ancestral populations looked like, genetically? Of course, the evident answer is through burials, but burials are not only few and far between, the DNA often does not amplify, or isn’t obtainable at all, and when it is, we really don’t have any way to know if we have a representative sample of the indigenous population (at that point in time) or a group of travelers passing through. So, by and large, with few exceptions, ancient DNA isn’t a readily available option.

The second way to obtain this type of information is to sample current populations, preferably ones in isolated regions, not prone to in-movement, like small villages in mountain valleys, for example, that have been stable “forever.” This is the approach the National Geographic Society takes and a good part of what the Genograpic Geno 2.0 project funding does. Indigenous populations are in most cases our most reliable link to the past. These resources, combined with what we know about population movement and history are very telling. In fact, National Geographic included over 75,000 AIMs (Ancestrally Informative Markers) on the Geno 2.0 chip when it was released.

The third way to obtain this type of information is by inference. Both Ancestry.com and 23andMe do some of this. Ancestry released its V2 ethnicity updates this week, and as a part of that update, they included a white paper available to DNA participants. In that paper, Ancestry discusses their process for utilizing contributed pedigree charts and states that, aside from immigrant locations, such as the United States and Canada, a common location for 4 grandparents is sufficient information to include that individuals DNA as “native” to that location. Ancestry used 3000 samples in their new ethnicity predictions to cover 26 geographic locations. That’s only 115 samples, on average, per location to represent all of that population. That’s pretty slim pickins. Their most highly represented area is Eastern Europe with 432 samples and the least represented is Mali with 16. The regions they cover are shown below.

Survey Monkey, a widely utilized web survey company, in their FAQ about Survey Size For Accuracy provides guidelines for obtaining a representative sample. Take a look. No matter which calculations you use relative to acceptable Margin of Error and Confidence Level, Ancestry’s sample size is extremely light.

23andMe states in their FAQ that their ethnicity prediction, called Ancestry Composition covers 22 reference populations and that they utilize public reference datasets in addition to their clients’ with known ancestry.

23andMe asks geographic ancestry questions of their customers in the “where are you from” survey, then incorporates the results of individuals with all 4 grandparents from a particular country. One of the ways they utilize this data is to show you where on your chromosomes you match people whose 4 grandparents are from the same country. In their tutorial, they do caution that just because a grandparent was born in a particular location doesn’t necessarily mean that they were originally from that location. This is particularly true in the past few generations, since the industrial revolution. However, it may still be a useful tool, when taken with the requisite grain of salt.

The third way of creating the underlying population data base is to utilize academically published information or information otherwise available. For example, the Human Genome Diversity Project (HGDP) information which represents 1050 individuals from 52 world populations is available for scrutiny. Ancestry, in their paper, states that they utilized the HGDP data in addition to their own customer database as well as the Sorenson data, which they recently purchased.

Academically published articles are available as well. Family Tree DNA utilizes 52 different populations in their reference data base. They utilize published academic papers and the specific list is provided in their FAQ.

As you can see, there are different approaches and tools. Depending on which of these tools are utilized, the underlying data base may look dramatically different, and the information held in the underlying data base will assuredly affect the results.

Step 2: Your Individual DNA Extraction

This is actually the easy part – where you send your swab or spit off to the lab and have it processed. All three of the main players utilize chip technology today. For example, 23andMe focuses on and therefore utilizes medical SNPs, where Family Tree DNA actively avoids anything that reports medical information, and does not utilize those SNPs.

In Ancestry’s white paper, they provide an excellent graphic of how, at the molecular level, your DNA begins to provide information about the geographic location of your ancestors. At each DNA location, or address, you have two alleles, one from each parent. These alleles can have one of 4 values, or nucleotides, at each location, represented by the abbreviations T, A, C and G, short for Thymine, Adenine, Cytosine and Guanine. Based on their values, and how frequently those values are found in comparison populations, we begin to fine correlations in geography, which takes us to the next step.

Step 3: Comparison to Underlying Population Data Base

Now that we have the two individual components in our recipe for ethnicity, a population reference set and your DNA results, we need to combine them.

After DNA extraction, your individual results are compared to the underlying data base. Of course, the accuracy will depend on the quality, diversity, coverage and quantity of the underlying data base, and it will also depend on how many markers are being utilized or compared.

For example, Family Tree DNA utilizes about 295,000 out of 710,000 autosomal SNPs tested for ethnicity prediction. Ancestry’s V1 product utilized about 30,000, but that has increased now to about 300,000 in the 2.0 version.

When comparing your alleles to the underlying data set one by one, patterns emerge, and it’s the patterns that are important. To begin with, T, A, C and G are not absent entirely in any population, so looking at the results, it then becomes a statistics game. This means that, as Ancestry’s graphic, above, shows, it becomes a matter of relativity (pardon the pun), and a matter of percentages.

For example, if the A allele above is shown is high frequencies in Eastern Europe, but in lower frequencies elsewhere, that’s good data, but may not by itself be relevant. However if an entire segment of locations, like a street of DNA addresses, are found in high percentages in Eastern Europe, then that begins to be a pattern. If you have several streets in the city of You that are from Eastern Europe, then that suggests strongly that some of your ancestors were from that region.

To show this in more detailed format, I’m shifting to the third party tool, GedMatch and one of their admixture tools. I utilized this when writing the series, “The Autosomal Me” and in Part 2, “The Ancestor’s Speak,” I showed this example segment of DNA.

On the graph below, which is my chromosome painting of one a small part of one of my chromosomes on the top, and my mother’s showing the exact same segment on the bottom, the various types of ethnicity are colored, or painted.

The grid shows location, or address, 120 on the chromosome and each tick mark is another number, so 121, 122, etc. It’s numbered so we can keep track of where we are on the chromosome.

You can readily see that both of us have a primary ethnicity of North European, shown by the teal. This means that for this entire segment, the results are that our alleles are found in the highest frequencies in that region.

However, notice the South Asian, East Asian, Caucus, and North Amerindian. The important part to notice here, other than I didn’t inherit much of that segment at 123-127 from her, except for a small part of East Asian, is that these minority ethnicities tend to nest together. Of course, this makes sense if you think about it. Native Americans would carry Asian DNA, because that is where their ancestors lived. By the same token, so would Germans and Polish people, given the history of invasion by the Mongols. Well, now, that’s kind of a monkey-wrench isn’t it???

This illustrates why the results may sometimes be confusing as well as how difficult it is to “identify” an ethnicity. Furthermore, small segments such as this are often “not reported” by the testing companies because they fall under the “noise” threshold of between about 5 and 7cM, depending on the company, unless there are a lot of them and together they add up to be substantial.

In Summary

In an ideal world, we would have one resource that combines all of these tools. Of course, these companies are “for profit,” except for National Geographic, and they are not going to be sharing their resources anytime soon.

I think it’s clear that the underlying data bases need to be expanded substantially. The reliability of utilizing contributed pedigrees as representative of a population indigenous to an area is also questionable, especially pedigrees that only reach back two generations.

All of these tools are still in their infancy. Both Ancestry and Family Tree DNA’s ethnicity tools are labeled as Beta. There is useful information to be gleaned, but don’t take the results too seriously. Look at them more as establishing a pattern. If you want to take a deeper dive by utilizing your raw data and downloading it to GedMatch, you can certainly do so. The Autosomal Me series shows you how.

Just keep in mind that with ethnicity predictions, with all of the vendors, as is particularly evident when comparing results from multiple vendors, “your mileage may vary.” Now you know why!

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Happy First Blogiversary

Posted on July 11, 2013 by Roberta Estes

Today is the first anniversary of the launch of www.dna-explained.com. In a way it seems like just yesterday and in another way, it seems like DNA-explained has been a part of my life forever. One thing is for sure, it’s been a very interesting year!

So now, I’m going to tell you a secret.

I was going to retire early and write a book. I was going to have time on my hands. I was going to work on my own genealogy and share the journey of what I learned. I was going to weed my garden. Are you laughing now? Holding your sides? Well, if so, you clearly understand just how unrealistic that expectation was.

I have less, much less, time now than ever. My little part-time retirement job overtook my original career, and then some. I’ve never worked harder, had less sleep, nor loved it more. Is sleep really a necessity? Seems like so much wasted time. Spoken like a true genealogist!

Genetic genealogy is the marriage of my two passions, genealogy and science. I spent my entire career on the very exciting edge of technology, first communications research and discovery, then mapping and specialized software. Genetic genealogy isn’t much different actually, except it’s more bleeding edge (some days) than leading edge and it’s much more personal and fulfilling. Not only have I learned volumes about my own ancestors – things there was no prayer of knowing even a decade ago – but I get to help others on that journey too. Not only that, but I’ve gotten to be personally involved in scientific discovery. I can’t imagine a better place to be!

And no, I’m not writing a DNA book. Well, actually, I am, soft of – but just in a different way. Blogs are the way of the future – so is electronic communication. The problem with books about fast-moving and highly technical topics is that they move on and change so rapidly that tomorrow, literally, your book can be out of date and you have no way to update it. Just what I don’t need is another box of boat-anchors in my office.

Not long ago, someone on the ISOGG Facebook page asked for a list of books and someone replied, “forget the books, read the blogs.” I don’t want to invest the effort into one of those “forgotten books” when the blogosphere beckons and is so much more friendly towards photos, graphics, color and change. It’s also a lot more personal and flexible. And it lets me interact with you and vice versa .

So how have we done this first year? As of yesterday, we surpassed 2100 subscribers and that doesn’t count all of the RSS feed, Facebook and Twitter followers. My husband bet me I’d have 2000 by summer and I said I wouldn’t. Good thing I didn’t bet much, because I was wrong. Thanks to all of you. Sometimes being wrong is a good thing!

This is the 162^nd posting, so about one every other day. I had goaled one a week.

There have been a total of about 2700 “real” comments and are you ready for this, almost 29,000 spam ones. No, that is not a typo. Yes, I do use a spam filter, but I still approve every single comment that is posted – and now you know why. The spam filter doesn’t catch them all, because spammers are crafty!

In total, the articles are “tagged” in 81 different categories so you can find them by searching. One of the articles I’ll be writing soon will tell you how to use and search blogs more efficiently, including this one!

http://www.dna-explained.com has had a total of 249,545 views, nearly a quarter million and that doesn’t count the 2100+ people who receive postings via e-mail and RSS. We average just over 1000 hits per day now. Wow!

What is the most popular category of blog articles visited? Autosomal DNA.

How about the most popular article? Big News! Probable New Native American Haplogroup. That shocked me. For a long time, the most popular article had been the kickoff of the Geno 2.0 announcement, National Geographic – Geno 2.0 Announcement – The Human Story published on July 25, 2012. Older articles have more time to amass hits – and the haplogroup article was just published June 27^th. Indeed it does seem to be big news and is of interest to lots of people.

One of my reasons for creating this blog was as a matter of self-defense. I receive a lot of inquiries through my various list memberships.

So I decided that if I wrote the answers to the most frequently asked questions, well, including graphics and pictures (which really are worth 1000 words), once, I could use that document to answer people’s questions, over and over again. The good news is, so can you. What are the most commonly asked questions and the pages I use to answer them?

What can DNA testing do for me? That is such a basic question and the answer could be that book I didn’t write. I use the article 4 Kinds of DNA for Genetic Genealogy to answer this one.
I think my ancestor was Native American and I want to prove it. This question also has other variants like, proving which tribe, joining a tribe, getting benefits and free education. I refer people to the article Proving Native American Ancestry Using DNA.
I’m adopted, or I don’t know who my father is, and I want to use DNA testing to find my parents/ancestry. This is also relevant for people who discover an undocumented adoption in their line that “interferes” with the genealogy they thought they knew. For this answer, I use I’m Adopted and I Don’t Know Where to Start. This article, along with many others, links within the article to other resources as well.
What can autosomal testing do for me? If I had a dollar for every time I’ve received some flavor of this question, I’d be really retired and on that World Cruise! The article I use for this is Autosomal Basics.
And then the companion question to the one above, my autosomal results are back – what do I do with them now? For this one, I refer people to the summary article for The Autosomal Me series. While it is focused on a particular challenge for me, minority Native admixture, the tools and techniques are relevant for everyone.

We’ve had an awesome first year, thanks to all of you, and I’m looking forward to even more breakthroughs and findings in year two. I love sharing your stories and victories too and always appreciate tips and hints pointing out genetic genealogy items of interest. I have some fun articles planned for this upcoming year and there are discoveries on the horizon, so stay tuned!!!

And indeed, may we all continue to live in very interesting times!

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Family Tree DNA Research Center Facilitates Discovery of Ancient Root to Y Tree

Posted on March 26, 2013 by Roberta Estes

The genetic genealogy community has been abuzz for months now with the discovery of the new Root of the Y tree. First announced last fall at the conference for DNA administrators hosted by Family Tree DNA, this discovery has literally changed the landscape of early genetic genealogy and our understanding of the timeframe of the origins of mankind. While it doesn’t make much difference in genetic genealogy in the past few generations, since the adoption of surnames, it certainly makes a difference to all of us in terms of our ancestors and where we came from – our origins. After all, the only difference between current genetic genealogy and the journey of mankind is a matter of generations – and all of our ancestors were there, and survived to reproduce, or we wouldn’t be here.

One of the important aspects of this discovery is the collaboration of citizen scientists with academic institutions and corporations. In this case, the citizen scientist was Bonnie Schrack, a volunteer haplogroup project administrator, Dr. Michael Hammer of the University of Arizona, National Geographic’s Genographic Project, and Thomas Krahn and Astrid Krahn, both with the Gene by Gene Genomics Research Center. Without any one of these players, and Family Tree DNA’s support of projects, this discovery would not have been made. This discovery of the “new root” legitimizes citizen science in the field of genetic genealogy and ushers in a new day in scientific research in which crowd sourced samples, in this case, through Family Tree DNA projects, provide clues and resources for important scientific discoveries.

Today Gene by Gene released a press release about the discovery of the new root. In conjunction, Family Tree DNA has lowered their Y DNA test price to $39 for the introductory 12 marker panel for the month of March, hoping to attract new participants and to eliminate price as a factor. On April 1, the price will increase to $49, still a 50% discount from the previous $99. Who knows where that next discovery lies. Could it be in your DNA?

Family Tree DNA’s Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

HOUSTON, March 26, 2013 /PRNewswire/ — Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic’s Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report “An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree” in The American Journal of Human Genetics earlier this month. The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene’s advisory board, and two of the company’s staff scientists, Drs.Thomas and Astrid-Maria Krahn.

The DNA sample had originally been submitted to National Geographic’s Genographic Project, the world’s largest “citizen science” genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA’s database for genealogical research. Once in Family Tree DNA’s database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

“This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products,” said Gene By Gene President Bennett Greenspan. “While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing. The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution.”

The discovery took place at Family Tree DNA’s Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project. Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company’s Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations. Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

“Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago,” said Dr. Michael Hammer. “Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade. This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise.”

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%. By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research. They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

SOURCE Gene By Gene, Ltd.

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Personal Genetics – Coming out of the Closet – Ostriches, Eagles and Fear

Posted on March 6, 2013 by Roberta Estes

While most of the people subscribing to this blog are here because of genetic genealogy, genetic genealogy is only one piece of the picture of the future of personal genetics. Ironically, it’s genetic genealogy that gave low cost genetics a push into the mainstream, some 7 or 8 years before 23andMe, the first personal health genetics company, launched in 2006.

This week, the magazine, ieee Spectrum, of all places, has an absolutely wonderful article, The Gene Machine and Me, about the future of personal genetics. Many of these types of articles are sensationalized and full of what I call “fear-mongering,” but this one is not only excellently written, it’s accurate and interesting – a triple hitter home run as far as I’m concerned.

I’d like to talk for just a minute or two about the high points in this article, about this emerging technology, what it means to us and about fear. I’ll be sharing my personal journey down this path.

For those who would like to know how next-generation technology works – by the way – that’s the chip technology employed by Family Tree DNA for the Family Finder product, 23andMe for all of their testing and the National Geographic Geno 2.0 project – this article has a very educational description that is understandable by regular air-breathing humans. The next-next generation sequencing, discussed here and offered shortly by Ion Torrent, will certainly revolutionize personal genetics much as the Illlumina genotyping chip technology has today.

The benefit of full genomic and exome sequencing, the new technology on the horizon for consumers, is in the information it will tell us about ourselves. And I’m not referring to genealogy here, although that assuredly will be a big beneficiary of this new world of personal genetics. For genealogists, there is mention of soon-to-be capabilities of sequencing from one single molecule of DNA. For those of us with hair brushes and toothbrushes that we’ve been jealously guarding for years now, waiting for the technology to improve to the point where we can obtain the DNA of our dearly departed loved ones, this is going to be our ticket. As excited as I am about that, that’s not the potential I’m talking about. I’m talking about information about our own bodies and the potential future foretold in those genes. Notice the word potential.

The information in our genes is seldom a death sentence. In rare cases, it is, such as Huntington’s Disease. If this disease runs in your family, you already know it and testing should be done in conjunction with genetic and/or medical counseling. For these people, DNA testing will either confirm that they carry that gene, or relieve their mind that they do not.

For the vast majority of us, the information held in our genes it much less dire. In fact, it’s a good news message, as it will provide us ample warning, an opportunity, to do something differently with our lives to prevent what might otherwise occur. So it’s not a death sentence, more of a life sentence. For me, it was an epiphany. Yes, I took positive action and made dramatic life changes as a result of my DNA test results. In essence, this is my “coming out” story.

I was one of the first people to order the new 23andMe test when it was first offered, mostly for the genealogy aspect, but as you know, it includes health traits and information. When I received the results of that test a few years ago, in black and white, where I could not possibly ignore them, the reports indicated that I was at elevated risk for certain conditions. Those conditions were certainly beginning to manifest themselves in my life. I was on medication for two of them. My weight, at the time, was certainly a contributing factor to the development of those conditions. My sister had died near the age I am now as a result of those conditions. She looked like me, was built like me, was heavy like me, and very probably carried those exact same genetic risk factors. Our grandfather died of the same thing about the same age. Our father had it too, but he died in a car accident – caused by a coronary episode, at age 61. Seeing this, in black and white, and knowing my family history, I decided to do something to prevent that future, or at least to delay or mitigate it as much as possible.

I lost over 100 pounds and yes, for almost 5 years now, I’ve maintained that weight loss, well except for a pesky 10 or 15 pounds that I fight with regularly. But still, the 100 pound loss is far more important than the 10-15 pounds I battle with. I am off of all medication related to those and related conditions. I’ve changed what and how I eat, and a benefit I really didn’t anticipate is how much better I feel. You have no idea how much I hate these old pictures of me when I was heavy. This was taken at National Geographic Headquarters in Washington DC, in 2005, at our DNA Conference.

This next photo is me at one of our Lost Colony archaeology digs about five years later wearing one of my favorite t-shirts that says “Well Behaved Women Seldom Make History.” All of the genealogists should be laughing about now. No one wants well-behaved women because you can’t find them in the records. If my clothes look a bit large, that’s because they are, but that t-shirt was too small before the weight loss. I could never have done the physical work on those digs, or survived the heat, before losing the weight and going from a size 22 to a 12 in the photo below. These kinds of activities were all unforeseen benefits of the weight loss. My sister’s untimely death was not wasted on me, but served as a warning bell, well, more of an unrelenting siren actually, when I saw those DNA results.

I also took my 23andMe results, at least some of them, the ones related to the conditions I was dealing with, to my physician. I really had to think long and hard about this. So now, let’s talk about the fear part of the equation.

Fear of genetic results falls pretty much into two categories. We’ll call these the Ostriches and the Eagles.

My brother was an Ostrich. Yep, he was, head right in the sand. He had cancer, his wife had cancer, twice, his daughter, in her 30s, had cancer, yet their decision when offered free DNA testing was to decline – because they didn’t want to know. Fear of the information itself, fear of knowing, perhaps spurred because of a sense of fate – nothing we can do about it so why know about it. He also refused to discuss it, so I really can’t tell you why, and he died, of cancer, last year, so that opportunity is past. Personally, I think knowing about a genetic proclivity would equate to more vigilant monitoring. And knowing the proclivity didn’t exist would set one’s mind at ease. I would think you would be a winner either way, but my thinking and his were obviously quite different.

The other group are the Eagles. They are vigilant and acutely aware of the fact that health based discrimination does exist. It has been worse in the past than it is now. This is the reason I had to think long and hard about taking any of my results to my physician. Once in your medical record, it’s permanent.

Today, GINA, the Genetics Information Nondiscrimination Act, goes a long way to protecting people, especially in an employment situation, but it does not cover everything.

Anyone who has ever tried to obtain health care insurance individually or through a small business knows all too painfully about pre-existing condition exclusions. Well, the good news is that ObamaCare, love it or hate it, levels that playing field for the “rest of us,” those who either were denied or had to make life and employment decisions based on whether or not they had insurance coverage through a group where discrimination related to pre-existing conditions didn’t exist.

The other good news is that you don’t have to take any of your DNA test results to your doctor. It’s entirely up to you. You can test anonymously, using an alias, if you’re really paranoid. Your results through personal genetic testing are yours and for no one else to see unless you disclose them.

Lastly, let’s talk realistically about the types of insurance that still discriminate – which would be life insurance, extended care insurance, etc. They are in the business of odds-making. They are betting you will live and you are betting you will die sooner than later. As you age, the odds shift, cause let’s face it, eventually, you will die – and they will have to pay out. Now the only way they can make money is if you pay more premiums during your life than they have to pay out in the end, or they make the premiums so expensive you stop paying, letting the policy lapse, before you die, so they never have to pay. Of course, if they think the odds are stacked too far in your favor, they simply won’t insure you. So, if you or your family members have Huntington’s Disease, you’re not likely to be able to get life insurance outside of a group policy, with or without a genetic test. In fact, there is a questionnaire about your family history when you apply for individual life insurance.

I bought individual life insurance about 10 years ago. They sent a nurse to the house to draw my blood. They wanted chain of custody, to know the blood sample was mine, which is not the case with personal DNA testing. I had to provide ID. If the insurance company wanted to run a DNA test, prohibitively expensive then, but not in the next few years, they certainly could do so. Let’s just say it plain and simple – everyone has pre-existing genetic proclivities to something – no one is immune. These results are not generally black or white either, but expressed as a range. For example, 4.2 European women out of 100 will develop Restless Leg Syndrome in thier lifetime. My risk is 5.2, so slightly elevated above the average. I’m only “above average” in 5 areas, and below average in most. And the insurance companies are still going to be in the odds-making business – they can’t deny everyone or they won’t have any business – and they will use this new tool as soon as it becomes economically viable. There is no escaping it.

So yes, the Eagles are right to watch vigilantly – but for now – how much you share and with whom is entirely in your control, so you don’t need to be an Ostrich either. There is a great deal of good that can come from personal genetic testing, in addition to genetic genealogy. Knowledge is power.

So now, if you haven’t already, read this great article, The Gene Machine and Me!!!

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The Autosomal Me – Testing Company Results

Posted on February 24, 2013 by Roberta Estes

This is Part 4 of a multi-part series, The Autosomal Me.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.” Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works. Part 2 gave an example of the power of fragmented chromosomal mapping and the raw beauty of the results. Part 3, “The Autosomal Me – Who Am I?,” discussed how to use our pedigree charts to gauge expected results and how autosomal results are grouped into population buckets. We also named this technique, Minority Admixture Mapping, or MAP for short.

In this segment, Part 4, let’s take a look at what the testing company autosomal results look like. The results are presented in timeline order, with the oldest results first and the latest, and presumably most accurate results, last.

23andMe Version 1

23andMe was the first company to offer this type of testing affordably. They initially only offered 3 population groups, and one inferred that Asian was actually Native American. Of course, that wasn’t a valid assumption for everyone, but it was the best that could be done under the circumstances. This was my ethnicity results display at 23andMe until December 2012 went their updated version was released.

DeCode Genetics

DeCode Genetics initially offered autosomal tests for ancestry. Unfortunately, under the pressure of financial issues, they stepped away from the genetic genealogy marketspace and have since been sold.

Their test showed the following ethnic breakdown, picking up both my Native and African heritage:

I particularly like these results because the X chromosome is included, and seeing Native on the X chromosome, which has a unique inheritance path is a very important piece of data.

Family Tree DNA Version 1

Family Tree DNA’s first version of their Family Finder product produced results stating that I am 100% European, split between western and northern, shown below (minus the map.)

Dr. Doug McDonald

Doug McDonald, a retired physical chemistry professor, compiles contributed raw data and compares the raw data locations with both reference populations and the contributor results. This is not a commercial endeavor but a private research project which has been ongoing for years. His analysis of my raw data results from 23andMe and Family Tree DNA showed that they are primarily European. His first analysis was without Middle Eastern populations and the results showed European except for a total of about 3% East Asian, Oceana and American. However, in a second run including the Pakistan and Middle Eastern populations, the results now showed 88% European, about 1% Oceanic and American and the balance Middle Eastern and Pakistani.

A small amount of Middle Eastern heritage is not unexpected since I do have confirmed Turkish ancestors.

Dr. McDonald indicated that this was slightly more, 1-2%, than most Europeans, and that I was generally planted firmly in the middle of the “English” area in his data. His results showed no African.

Standard deviation (statistical noise) is about 1%. He can achieve these low deviation numbers by using such a large number of markers (536,904 to be exact)[1] for his comparison. I am grateful to Dr. McDonald for his contribution, not only to me, but to this field.

The graph below shows that my primary ancestry falls in the English/French region.

The second graph maps these results on my chromosomes. The American, bright green, is found on chromosomes 1 and 2, and the X chromosome shows South Asian.

Doug indicates that the Native American is found at about the .5% level. Interestingly, on my mother’s graphs and charts (below), the Native segments are nearly identical, but my first grey South Asian segment on my X is Mideast on her chart.

It’s also interesting to note that my Native American on chromosome 2 is larger than my mother’s which may well reflect Native heritage on my father’s side. Ironically, the oral history of Native ancestry was on my father’s side, not my mothers.

Doug’s analysis has been updated several times over the years and these results are the most current. The vendors have made upgrades too. In 2012, both 23andMe and Family Tree DNA underwent upgrades to their ethnicity software and the Genographic Project version 2.0 test was released.

23andMe 2012 Updated Version

The new 23andMe software offers different confidence levels.

The standard estimate, or confidence level, shows that I have about .5% Native American. This is consistent with Dr. McDonald’s findings.

A second view is available which paints the chromosomes. A split view is also available if one of your parents has been tested at 23andMe as well. That is not an option for me.

The conservative estimate, below, shows less Native at .2%.

The speculative level below shows the Native back to .5% but adjusts the European regions significantly.

Although 23andMe does not provide participants with the start and stop locations, through alternative means, meaning a very smart friend, Rebekah Canada, who is a Java programmer, start and stop locations can be discerned.

CeCe Moore documented Rebekah’s technique for those who will be following along with their own results through this process.

In a future segment of this series, we’ll look at alternative ways to discern Native segments. Thanks to Rebekah’s technique, I can tell you that 23andMe shows my Native segments as follows:

Chromosome 1 – 165,658,091 to 175,711,116

Chromosome 2 – 86,316,174 to103,145,426

23andMe also provides a Neanderthal percentage. What fun!!!

Family Tree DNA Updated 2012 Version

My mother was deceased before chip based autosomal testing was available, but I ordered the Family Finder test for her as soon as it was available. Thankfully her DNA was stored at Family Tree DNA and was still viable.

Mother’s original results are shown above and her most recent results are shown below. Her results shifted within Europe and her margin of error doubled.

My current results from Family Tree DNA’s updated software are shown below.

National Geographic Genographic 2.0

I was very surprised to see my National Geographic results. They were very unexpected, in particular the high percentages of Mediterranean and Southwest Asian, totaling 54%.

It made more sense when I read the information. It’s true, reading is fundamental.

These results are, in essence, more anthropological in nature.

Of course, one of the fun parts of the Genographic results are the Neanderthal and Denisovan percentages.

These are somewhat different than the 23andMe results, although if you add the Neanderthal and Denisovan values together, the resultant 2.2% is very close to 23andMe’s 2.5%.

Ancestry.com

In 2012, Ancestry introduced an autosomal DNA test as well. What it provides is very limited, with limited tools, but it does provide percentages of ethnicity in addition to matches. Recently, Ancestry announced that the percentages may change over time. They have been severely beaten within the genetic genealogy community for quality issues with this product, including percentages of ethnicity that are highly erroneous. Their stated time reference is 500 years ago.

Recently this new page was added before you can see your detailed results.

Ancestry shows my heritage as only British and Scandinavian.

Ironically, Ancestry has mapped the birth locations of my ancestors in Europe on the map above, based on my family tree submitted. Interesting that Germany doesn’t show in Ancestry’s ethnicity list but many of my family lines originated in Germany and Holland, and none in Scandinavia.

Testing Provider Summary

Where do we stand now?

A summary of the various test results is shown below compared to my pedigree analysis.

Test Results Chart

I have included Dr. McDonald’s analysis here, not because he’s a testing provider in the sense of the testing companies, but because his offering was available in this timeframe, and because he worked with Family Tree DNA to develop their Population Finder code.

You can see that the results are relatively consistent between testing companies. There is certainly no question about majority ancestry, but the minority admixture which hovers someplace near 1%, give or take 5% in either direction, is much less consistent and not always reported. If I were to have tested with only one company and taken the results as gospel, I could certainly have been left believing that I had no Native or African admixture. For many people, it’s this small amount of minority admixture that they are seeking. So in answer to the question of which testing company is “best,” the answer is, if you’re looking for trace amounts of anything, the compendium of all the testing companies (minus Ancestry) would provide the best set of results. We will be using the match information as well in the next sections, so certainly nothing has been “wasted” testing with multiple companies, again, except Ancestry. I am hopeful that Ancestry will in the future release our raw data (which they have promised to do) in a useable format, fix their misleading ethnicity results and add chromosome painting tools so that we can fully utilize our data.

In Part 5 of the series, we’ll take a look at third party tools and how they can continue to refine and add to our knowledge of our admixture.

1. Genealogy-DNA Rootsweb posting by Doug McDonald on 7-26-09 and personal correspondence.

2. 71.5% western European, 28.4% Northeastern European

3. Inferred that Asian is actually Native in an American with no history of Asian ancestry.

4. No category, inferred.

5. 78.6% Northern European, 1.8% Southern European, 18.7% Nonspecific European

6. 54.6% Northern European, .3% Southern European, 43% Nonspecific European

7. 91.7% Northern European, 3% Southern European, 3.3% Nonspecific European

8. 75.18% West Europe (French and Orcadian), 24.82 Europe (Romanian, Russian, Tuscan and Finnish). Note that my mother’s results are almost identical except the Finnish is missing from hers.

9. 43% North Europe and 36% Mediterranean

10. 80% British, 12% Scandinavian

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Transferring Results from National Geographic to Family Tree DNA

Posted on January 13, 2013 by Roberta Estes

There are several reasons why you might want to transfer your National Geographic Genographic Geno version 1.0 and 2.0 results to Family Tree DNA.

Please note these are only valid for the Geno 2.0 version, prior to the Helix tests that began in November of 2016.

If you’re not a Family Tree DNA client, there is a whole new genetic genealogy world just waiting on you, and transferring your results is free. National Geographic test version 1.0, which is no longer available, included a 12 marker Y DNA test, and version 2.0, currently available, includes extensive haplogroup (clan) information that complements the 12-111 marker tests at Family Tree DNA, as well as other information. If you haven’t yet taken the 12 marker or other Y DNA tests at Family Tree DNA, you will be offered that opportunity in order to find your matches. After transferring your results to Family Tree DNA, you will be able to order additional tests, contact your matches via e-mail and share your genealogy information. It’s an exciting time in genetic genealogy!

YDNA SNPs

If you are already a Family Tree DNA customer, then you’ll want to download your data for a different reason. The Geno 2.0 chip includes an extensive list of Y DNA SNPs that are tested, far beyond what Family Tree DNA offers, and you will want to integrate this data into your results pages at Family Tree DNA.

Mitochondrial DNA

If you have not yet tested your mitochondrial DNA, Geno 2.0 provides you with your haplogroup, your deep ancestral clan information. The markers required to define your haplogroup will transfer to Family Tree DNA. If you want, you can then order the mtDNA, mtDNAPlus or the full mitochondrial sequence test to see what personal mutations you carry, and who you match.

If you have taken any mitochondrial DNA test at Family Tree DNA, none of the Geno 2.0 information will transfer, including updated haplogroup information. The Full Mitochondrial Sequence test at Family Tree DNA is more extensive than the Geno 2.0 haplogroup only test.

Autosomal Results

The two autosomal tests, the one provided by Family Tree DNA (Family Finder) and the one included in the Geno 2.0 product are entirely different beasts. The Family Finder test provides you with a list of cousin matches with numerous matching tools and an ethnicity report.

The Geno 2.0 product also provides an ethnicity report but uses different comparison populations and markers than Family Tree DNA, so they serve different purposes, the Family Tree DNA Family Finder product being more focused towards genealogy and the National Geographic product being more focused towards anthropology or deep ancestry. I mean, let’s face it, you’re probably not going to be able to go back far enough in time to tack a pure Neanderthal or a pure Denisovan on your family tree, your favorite brother-in-law excepted:)

How to Transfer Your Results

In order to facilitate the transfer, you’ll need to set up an account at National Geographic, and you’ll need your National Geographic kit numbers. So find those before you start. If all else fails, find that lovely black box your Geno 2.0 test kit arrived in. Your participant number is on the inside of the front cover. And you thought it was just another pretty box!

You’ll also need your Family Tree DNA kit number and password for the kit you want these results to transfer into.

Go to the Genographic website at http://www.genographic.com and click on
“Check Results.” You’ll be prompted through setting up your account at National Geographic. Whether or not you want to transfer data, you need to set up your account because if you don’t, and you lose your Nat Geo kit number, you’re toast.

After you enter your kit ID and set up your account, you’ll see the main results screen. This is mine, and no, my paternal results aren’t missing…there aren’t any because as a female, I don’t carry a Y chromosome!

Now click on “Profile” in the upper right hand corner of the screen. You’ll see the profile screen below.

You’ll see your profile, along with your kit numbers. You’ll need these for the next step so you’ll want to be sure to write them down. I’ve greyed mine above, but you can see where they were. Note that if you have already transferred your Geno 1.0 results previouisly, adding that kit number here has been reported to generate an error. If so, then try again without the 1.0 kit number.

Next, click on “Expert Options” at the top right of the screen. You’ll see “Download Data” and “Transfer Data to Family Tree DNA.”

Click on “Transfer Data to Family Tree DNA.” You’re almost done!!! You will be transferred to a screen on the Family Tree DNA site.

The kit numbers that you need are the numbers are displayed in your National Geographic account settings screen that I suggested you write down – plus – of course – your Family Tree DNA kit number and password that you want your National Geographic results associated with.

Complete this and click on next. You will see an order screen that looks like you are placing an order. Don’t worry, the order is free, but you do need to complete the form. Click through the options and at the end, the free order for your transfer will be complete.

It takes about 24 hours before you can see your results on your personal page at Family Tree DNA.

Y SNPs

Currently, as of January 12, 2013, you will be able to see your terminal SNP on your Haplotree and SNP tab if your terminal SNP is one that Family Tree DNA tests for in their lab.

However, if your SNP is new on the Geno 2.0 chip, then you won’t be able to see your terminal SNP on your personal page at Family Tree DNA, yet, so be sure to make note of your terminal SNP from your National Geographic results. Some Geno 2.0 results at Family Tree DNA today show an upstream SNP, and others show no SNP at all.

This is one of those good news/bad news situations. The good news is that we are functioning on the leading, sometimes bleeding edge of science and get to play a very important role, which is exciting. The bad news is that we’re bleeding a bit right now. Family Tree DNA really can’t fix this problem until a new haplotree is in place.

The problem is that haplogroup/subgroup discoveries are being made so rapidly that the haplotree is in a bit of a state of flux….OK, a big state of flux, which will take some time to sort through. More, many more, discoveries than ever expected continue to be made as more kits are run through the process. Let’s just say we’re having some minor growing pains. But what a great problem to have. We already knew that Geno 2.0 would change the tree dramatically, but we really had no idea HOW dramatically. Now I’m wondering if we’ll even recognize it! What we thought was a tree was only a sprout. And it’s still growing!