Proving Men Whose Y-Lines Don’t Match Are Related

Posted on November 17, 2013 by Roberta Estes

The old “Younger Store” in Halifax County, Virginia

BINGO – BINGO

Yes, I’m shouting. This is a 30 year BINGO – a wall that DNA just tore down!!! WOOHOO

Good thing you can’t see my happy dance. I wouldn’t care right this moment, but I’m POSITIVE I’d be embarrassed later.

Ok, so taking deep breath here – here’s the story.

The Younger Men

I descend from Marcus Younger of Halifax County, Virginia, through his daughter Mary who married George Estes in 1786. Marcus was born probably somewhat before 1740 in either Essex County, Virginia. Our first positive record of him is in 1780 when he gave to the Revolutionary War cause “1 gallon, 2 quarts and 1/2 pint brandy.” We don’t know who Marcus’s wife was, but she may have been a Hart or a Ferguson. Marcus moved to Halifax County, Virginia shortly after the war and subsequently died there in 1815 with a will listing his children. There were also subsequent chancery suits relating to his estate, thankfully, that reveal a great amount of information about his children and their lives. Marcus had only one son, John, born in 1760. Mary was probably his second child as her husband, George Estes, was born in 1761.

Also living in close proximity to Marcus Younger in Essex County, near the border with Queen and King, was Thomas Younger who was significantly older than Marcus, but was not his father. Thomas appears in deeds in Essex County, Virginia in the 1740s, but was in King and Queen County in 1752. Thomas moved to Halifax County by 1765 when he is found on a tax list and died there in 1791, with a will that was witnessed by both Marcus Younger and Marcus’s son John. This alone suggests strongly that Marcus was not the son of Thomas because heirs generally did not witness wills unless they were nuncupative wills taken orally just before the person died, and Thomas’s was not. Furthermore, there were chancery suits following both Thomas and Marcus’s deaths that tell us exactly who their heirs were. This will-witnessing also suggests an extremely close relationship between Thomas Younger and Marcus Younger. But what, exactly, was that relationship?

Thomas’s parents were Alexander Younger and Rebecca Mills. Alexander died in Essex County in 1727, with a will. He had three sons, Thomas, above, James who married a Nash and is well accounted for, and a John who died between 1725 and 1727 when Alexander’s estate is settled. Almost nothing is known about John. In addition, there were 5 sisters, only two of which are even somewhat accounted for beyond 1732 or as adults. This indeed may be a very important clue to the Marcus puzzle.

Who’s Your Daddy?

Descendants of Thomas Younger and of Marcus Younger both took the Y DNA test some years ago, and we were absolutely stunned to discover that their Y DNA did not match. We have two descendants of John, only son of Marcus, and they do match each other, but no other Youngers.

The several descendants of Thomas Younger match each other and also the descendants of Alexander’s other son, James. So Marcus seems to be related to the family, carries the surname, but does not share a direct paternal ancestor on his father’s side.

Our candidates for his parents are quite limited.

Barring a totally unknown Younger person, we have the following candidates.

John Younger, son of Alexander, brother to Thomas – but that would also mean that John was not the biological son of Alexander but did share a mother since Marcus’s descendants autosomally match this line today. Since Alexander’s estate paid to register the death of John, that implies that John was not yet married at the time of his death and responsible for himself. This pretty much eliminates John.

The other alternative is that Marcus is the illegitimate child of one of Alexander’s daughters. His daughters were named Ann, Mary, Janet, Susannah and Elizabeth. Unfortunately, three of those names are repeated in Marcus’s daughters, but it could effectively eliminate Janet and Ann, unless Marcus had a child with that name that died young and he did not reuse the name as so many people did at that time. As it turns out, Ann and Janet married about 1732, but we have no information on the other 3 daughters other than they were minors at their father’s death in 1727 and Thomas was appointed their legal guardian in 1732.

This scenario, that Marcus was the child of one of Alexander’s daughters would fit what we do know about this family both genetically and genealogically.

The DNA Jackpot

This brings us to today. And what a day it is. Until now, none of the descendants of Marcus Younger autosomally matched the descendants of Thomas Younger, at least not that we could prove.

I manage the kit of one of the descendants of John Younger, Marcus’s son, we’ll call him Larry.

I received a query from someone about matching Larry autosomally. I sent the note that I always do, with some basic genealogy info. What I received back was a pedigree chart screen shot from the match, who we’ll call David, that included Thomas Younger as his ancestor. He descended from Thomas via a daughter.

Once again, I was stunned, because here was the link we had sought for so many years…a genetic bond between Thomas and Marcus.

Of course, the first thing I did was to ask about other lines as well through which Larry and David might be related. There were none.

Then I turned to DNA. On the Family Tree DNA match list, Larry matches me and Larry matches David, but David is not on my match list. This could well be because we don’t have any segment matches above the match threshold of approximately 7.7cM at Family Tree DNA, but since we both match Larry, I could look at Larry’s matches and then drop the comparison level to below the matching threshold to see all of our common matches between the three of us.

Here are our default 5cM matches.

I am orange. David is blue. Larry is who we are being compared against.

Dropping the cM level to 1 shows us that golden nugget we have searched for so diligently.

Look at chromosome 1. All 3 of us match on a small segment of DNA. That DNA is Younger DNA. And that little orange and blue segment proves that indeed, Marcus and Thomas were related.

This also means that there will be others who fall into this “too small to be a match but hugely relevant small segment” scenario. In order to take a look, I triangulated all of the matches for my cousin Larry and David, and there were a total of 15 individuals.

But here’s the amazing part.

There are 16 people in total, including Larry and David who match.

I compared them in the chromosome browser, and downloaded all of them. I then sorted them by chromosome and start/end segment. Here is that oh so beautiful “proof” match on chromosome 1.

There are a total of 191 individual segments across all chromosomes where these people match Larry.

Of those 191 segments, there are also 94 segments on which one or more of us also match each other. Those are shaded green above for chromosome 1.

Of those 94 segments, only 8 were large enough to be above the matching threshold. That means that there were a total of 86 segments that were below the matching threshold but that were useful genealogically. On chromosome 1 above, only Larry and I would have been over that threshold, and we were already shown as matches.

Looking at those 8 large segment matches, some were between known relatives on both sides, like me and Larry on chromosome 1, but until there was someone who connected the dots and matched someone on both sides, like David, on a segment large enough to be counted as a match, the connection wasn’t there and the other matches weren’t meaningful to the question and answer of whether Marcus and Thomas were related.

David matches Larry on a large enough segment to be counted as a match on chromosomes 4 and 10, neither of which is a match to me in that location.

The golden “proof” egg, in this case, for the three of us, was hidden in a very small segment on chromosome 1 that would otherwise have gone entirely unnoticed and unreported because it was not over the match threshold.

What’s next, you ask? I’m sending e-mails to all 15 people, of course, asking how they connect to the Younger family. Maybe, just maybe, I’ll be doubly lucky today and one of them will descend from one of the unknown wives families. We have a couple of those surnames that are theorized but unproven. That would be like hitting the lottery twice in one day!

This story already has a most wonderful PS. The genealogy Gods are at work.

As soon as I finished composing this article, I had an e-mail from a match to Larry. This lady is actually his closest match, but was not in the triangulation group I had been working with. She told me that she is an adoptee and that she was seeking information. On the off chance that she might fit into the group I had been working with, I downloaded her segments too and added it to the spreadsheet. Not only does she fit in the group, she also matches me as well and other proven Younger descendants. not on chromosome 1, but on 3 other common locations.

She matches Larry most closely, so she likely descends from John Younger’s line through Larry’s ancestor. I sent this woman some photos of the Younger descendants in my line, and she replied saying this is the first actual biological family line she has ever found. She started actively looking in 1994 when she applied for her redacted adoption information and received a razored out paper that was full of holes and looked like Swiss cheese. I can only imagine how she must have felt.

So, of course, I did what any other insanely addicted genealogist would have done. I stayed up half the night, literally, putting together all of my “notes” in some semblance of order so she can see her family line, photos of my trip to fine the Marcus Younger cemetery, etc. I asked her how she feels, and she said she is very excited and it’s also a tad bit scarry. Yes, I imagine so…knowing you’re related to a crazy genealogist. But you know, I bet she’s doing her happy dance too.

Note: Photo of Younger Store taken by Brownie Mackie in 2002 in Halifax County, Va.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

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.

_____________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Gene by Gene Genomics Research Center Lab Tour

Posted on November 14, 2013 by Roberta Estes

Both before and after the 9th Annual Family Tree DNA International Conference for Genetic Genealogy this past weekend, Max Blankfeld and Bennett Greenspan were gracious enough to allow interested administrators to visit and tour their labs. I’ve toured other DNA labs, but their lab has very cool leading edge equipment. It was a wonderful treat to see it in action.

What I didn’t have was my “good” camera, so I’m sharing my iPhone photos.

I went on the last tour available and there were only a few of us, so it an excellent opportunity to see things up close and personal.

This lab is much larger than I expected. Gene by Gene, in addition to doing all of the DNA processing for Family Tree DNA, DNA Traits and the National Geographic Genographic project, is doing a significant amount of processing for research institutions such as medical schools. While we were there, they were getting ready to prep to run a large order of several hundred exome samples.

But come along with me and you can see for yourself. Bennett gave the tour personally. The bad news is that you’re going to have to rely on my memory, because nothing was allowed in the lab other than our cameras. This was to prevent contamination.

There are other contamination prevention methods as well. Anyone with open toed shoes had to put on booties. Here’s my friend Lisa, who comments periodically on my blog, suiting up for the tour. Next, we were given lab coats to wear inside the facility which we then took off and left by the door, but inside the lab, as we left.

The first stop inside is where they prepare the kits for shipping to customers when an order is placed. They purchase the empty vials, prepare the formula and fill and cap the vials, all automatically.

The “capping” process is the most interesting part and caused them the most consternation in trying to figure out the best way to do this. Bennett said they worried about having a non-tethered lid that might be dropped by the customer, and contaminated, as it turns out, needlessly.

After the kits come back, all but one of the vials goes into storage, shown below, beside the lab, for future testing. This environment does not have to be specially controlled outside of a normal office environment.

The vial that gets opened for the testing undergoes a different process that begins with removing the DNA from the vial and mixing it with a chemical solution that shakes the DNA out of the cells.

This is done overnight in a shaker machine. Reminded me of a paint shaker.

Have you ever seen a custom $600,000 freezer with a robot to retrieve the frozen goods? No? Well, you’re about to. If you have ever tested with Family Tree DNA and there is any DNA left in a vial that has been opened, it’s in this freezer which took the vendor 7 weeks to assemble on site. Capacity is over 550,000 vials and it’s about half full currently.

After the DNA is shaken out of the cells, that mixture has to be handled differently. It has been barcoded during the entire process and the prepared DNA mixture is then put into storage plates which are robotically stored. This retrieval process is initiated when an order is received by the robotic software. Keep in mind that the unit holds more samples than Family Tree DNA has today, in a very regulated deep freeze environment. Depending on what this robotic arm is doing, meaning moving plates around or extracting a specific vial, it changes its own tool on the end of its arm. It knows where every vial is in the freezer. I must admit, my Mom who has been gone since 2006 has DNA there and it made me feel kind of funny to know I was visiting “her.” But my DNA is with hers, along with a whole lot of other family members, so I guess it’s just one big family reunion in there.

After the correct vial is retrieved and the DNA mixture is extracted, the liquid is put onto a “chip” for the autosomal testing. The chip itself is about an inch by maybe 3 inches and holds 12 tests.

The DNA is pipetted into the side and then it is wicked into the chip itself.

Here is a set of two chips loaded and ready to be processed. This means that at total of 24 individual samples are being sequenced. Notice the little grey square to the size of each larger grey square. That tiny grey square is where the DNA mixture it placed and it’s wicked into the larger grey square for processing. We asked how that is done and were told that the technique is part of Illumina’s trade secrets.

Gene by Gene owns several sequencing machines. I know they have at least two Sanger sequencing machines and 4 different sizes and types of Illumina sequencing machines that run chip based tests like the Geno 2, the Family Finder and now the Big Y tests, in addition to the exome and full genome tests. These machines are incredible given that they can run hundreds of tests at a time, which is also how they have dropped the test costs exponentially in the past few years. Some equipment is optimized for running many samples but more slowly and some for running fewer samples but more quickly.

After reading and being automatically scored, the DNA results are reported to the client.

At the end of the lab tour, just outside, is the Customer Service area where the Customer Service Reps work. I’ll tell you what, they had their hands full this week and weekend with their regular call load, a conference and an office full of nosey and interested project administrators.

Of course, during the course of the day, I had to visit the restroom. I’ve always loved Max and Bennett’s sense of humor.

In case you don’t know, the Y chromosome is much smaller than the X, hence, the difference in the signs.

Let’s just say that in light of their new product announcement, the “Big Y,” I did a bit of a structural modification for them:)

Thanks again to Max and Bennett for their hospitality.

Jennifer Zinck also wrote about the Friday lab tour on her blog, Ancestor Central.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Genomics Law Report Discusses Designing Children

Posted on November 13, 2013 by Roberta Estes

I’m sure most of my readers are familiar with the upheaval caused by 23andMe’s patent dubbed “Designer Babies” earlier this fall. Opinions on this were highly divergent with some folks feeling like it couldn’t really be done, so nothing to reasonably worry about, some who couldn’t wait and others who were appalled for various reasons. Today, Genomics Law Report (GLR) published what I feel is a very balanced article about the patent, the technology, the fallout and the future in an article titled “Designing Children.”

“With this post the GLR introduces a new Contributing Writer, Jonathan Webber. Jonathan is a web editor at Robinson, Bradshaw & Hinson, the law firm that sponsors the GLR. His duties include copy-editing the GLR. That exposure, together with his background in anthropology—he came to RBH with a degree in anthropology and experience as both a field archaeologist and cultural educator for a state park system—has sparked his interest in some of the cultural and ethical issues that genomics raises. In this first post he brings his perspective to bear on the implications of 23andMe’s “designer babies” patent, and we look forward to more of his insight in the future.”

The aspect in this article that surprised me the most was the “ethical parenting” commentary about New York City. I truthfully, had no idea that parents were “training” their children for pre-school entrance exams and more, nor that they were medicating them for the purpose.

As a parent myself, I know that any parent would avail themselves of any technology that would prevent or avert genetic diseases in their children. But what about selecting for high intelligence? That’s understandable too, whether one agrees with it or not, and 13% of parents in a survey said they would select for that, if they could. But what about athletic prowess? Ten percent of the parents said they would select for athletic prowess. Is this now into the frivolous? Or what about a selecting for a blonde haired, blue eyed, slim daughter that the parents are hoping will be a beauty queen or a cheerleader? And of course, we haven’t even touched on the dark side of this in terms of parental motivation. All parents are not good parents nor do they all have their children’s best interests at heart.

Lots of questions and few answers about ethics, social responsibility and what the future holds. I hope you enjoy the article.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

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!!!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

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!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

10 Year Pioneers Recognized by Family Tree DNA

Posted on November 10, 2013 by Roberta Estes

Family Tree DNA awarded plaques to their project administrators who have surpassed the 10 year mark. Bennett mentioned that this group is a testament to citizen science. I’m very pleased to be included, of course. We’ve all been in this foxhole together for a decade now. Thank you to Family Tree DNA for recognizing these folks. The group is shown here and the list of individuals are:

Leo Baca
Mic Barnette
Janet Baker Burks
Roberta Estes
Robert Noles
Dyann Hersey Noles
Nora Probasco
Whitney Keen
Jim Barnett
Michael DeWitt McCown
James Rader
Steven Perkins
Ken Graves
Linda Magellan
Allan Grant
Katherine Hope Borges
Phillip Crow
George Valko
Therese Bucker
Nancy Custer
Peter Roberts
Louise Rorer Rosett
Jerry Cole

Of course, Max and Bennett are with us, Max on the far left and Bennett on the far right. I think that Bennett is officially the first project administrator!

Here’s to another wonderful decade!!!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Family Tree DNA Announces “The Big Y”

Posted on November 10, 2013 by Roberta Estes

Day 2 of the conference began early this morning and is just now ending and it’s after midnight. I do have a lot to tell you, but most of it going to have to wait a bit.

Today’s big news is that David Mittelman with Family Tree DNA late this afternoon announced the Big Y DNA test which would be known as a ‘full Y sequence” test. The test will provide results on 10,000,000 base-pairs and approximately 25,000 SNPs on the Y chromosome.

The regular price is $695, but it is being initially offered to current clients only for $495 though the end of November. A current vial can be used if one exists, otherwise a new one will be sent.

Delivery will be in 10-12 weeks and it will be accompanied by comparison tools.

Bennett says, “If the WTY (Walk the Y) was the moon shot, then this is the mission to Mars.”

Debbie Kennett compiled information from several folks who were tweeting and posting today and you can read more information at the link below.

http://cruwys.blogspot.com/2013/11/the-new-big-y-test-from-family-tree-dna.html

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

9th Annual Conference Reception

Posted on November 9, 2013 by Roberta Estes

It’s always fun to see everyone in Houston. I’ve never been a big “joiner.” No, I didn’t go to my high school class reunion. But this, well, it’s different. Many of us have been in this foxhole together for a decade now. It’s like old home week. And what is really amazing to me is how many of these people, over the years, I’ve discovered that I’m related to in one way or another.

I have received a couple of questions that I’d like to answer. One person asked if this conference is available to everyone. The answer is no. It is held and subsidized by Family Tree DNA and its focused on their project administrators. We, as a group, have to stay educated in order to educate and guide others appropriately. So this is not a conference for beginners, although, clearly, everyone has to start someplace. Many genealogy conferences now include DNA sessions and DNA tracks. If you’re unhappy about this, it’s easy to volunteer to assist an administrator for any project of your choice, and then you’ll be eligible to attend.

Are they recording the conference? No, they aren’t. Many or most of the speakers work in this field and not everyone is willing to have their sessions made public. Furthermore, my experience with recording conferences, especially where there is not an auditorium or studio environment is that the audio/video is quite poor.

Is there a “boot camp” for new people? There isn’t, per se, but Family Tree DNA does offer free webinars periodically which are announced on their website, facebook and other media sources. I would encourage people to take advantage of these opportunities.

Another change from previous conferences is that Family Tree DNA will be tweeting directly from the conference.

Now for the report on tonight’s reception.

It’s always great to see some new people. It seems that every year, about 30% of the faces are new. I see some folks that are repeats from the “new” group last year, which always makes me feel good. Many of us really try to make sure the new folks feel included. Katherine Borges and I were trying to figure out who has attended all 9 conferences, and we could only come up with 2 people in addition to ourselves. However, there are a lot of people who started attending the second year and have been with us ever since.

Family Tree DNA has brought new people on board through their acquisition of Arpeggi this last year and many of those folks were here this evening. They are excited about the new opportunities in genetic genealogy. We’ll be hearing more from Jason Wang, Chief Technology Officer, David Mittleman, PhD, Chief Scientific Officer (a geneticist by the way), Nir Leibovich, Chief Business Officer and Rudy Marsh, Director of Product later in the conference.

I finally got to meet Marja Pirttivaara in person. She came from Finland for the conference and will be speaking tomorrow about Bridging Social Media and DNA. Sadly, her session is the same time as mine so I won’t be able to attend hers:(

I blogged about the serendipitous moment when Marja and I discovered that we share a common ancestor in some distant misty place in Europe. It was so wonderful to actually get to meet her in person. I was so excited, I forgot to get a photo, but I will before the end of the conference.

Towards the end of the evening, I caught up with Katherine Borges, founder and Director of ISOGG. It’s always wonderful to see Katherine. That’s her and I taking “selfies” above. I noticed that Katherine had changed clothes from earlier in the evening. The room was quite warm. Looking at her, I realized that she was wearing these kind of ribbon wrapped sandals where the ribbons wrapped up her legs. They were cool in a California sort of way. Then, I saw them. Yep….I had to look closer to be sure I really did see what I thought I saw.

One thing about Katherine, you can always count on her passion for genetic genealogy, and also her passion for fun. Yes indeed, it’s good to be back in Houston. It’s going to be a great conference.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

9th Annual International Conference on Genetic Genealogy

Posted on November 6, 2013 by Roberta Estes

The 9^th Annual International Conference on Genetic Genealogy sponsored by Family Tree DNA for their project administrators will take place in Houston, TX beginning Friday, November 8th and lasting through Sunday, the 10th.

I’ll be attending this one, just like I’ve been at every conference since the beginning. There aren’t many of us who attended that first conference and are still attending, and fewer still who have attended all 9 conferences. You can see some photos of that first conference and a few stats here.

Charles Kerchner brought his freshly minted haplogroup pins to sell, R1b for Yline and H for mito. My – how things have changed. Today I wrote a report for a man who is R1b1a2a1a1b4h. Although Charles is now retired from genetic genealogy, I’m sure if he still has some pins, he’d love to unload them, er, I mean, sell you one. In the genetic genealogy world, they are antiques now, but we were surely excited to proudly wear them in 2004. They were kind of the 2004 DNA version of “what’s your sign?” Everyone was walking around the hotel lobby around looking for other people wearing pins! I still have mine and my haplogroup J mito pin too. The first conference was a landmark, watershed, event. We were giddy with excitement to attend the conference and meet each other for the first time, face to face. Sadly, some of those friends are no longer with us.

Looking back, I recall how different things were, and how much they have changed in just under a decade. Most notably, there was no Facebook, no Twitter, no forums and no blogs. The first DNA books for genealogy were introduced that year, as was Mitosearch, and Sorenson released their first data base information.

Back then, the best you could hope for if you couldn’t attend the conference, which was the ONLY educational opportunity for genetic genealogy, was that someone would post on the Rootsweb DNA list about what was taking place. There was no ISOGG list, as ISOGG hadn’t been formed yet and wouldn’t be for another year. Today, ISOGG has 8000 international members.

Speaking of Rootsweb, which was the primary message system at that time, DNA was a taboo subject on the surname and location lists and boards. Actually, it was prohibited everyplace on Rootsweb except for lists like the genealogy-DNA list which had been formed specifically to discuss DNA. I never understood exactly why, but the topic of DNA was treated like a social disease. You couldn’t discuss it, you couldn’t talk about results and you most assuredly could NOT recruit people, even discretely. Messages that even smelled remotely like they might be DNA related were routinely deleted. It seems to me that there was a great amount of fear that DNA might unearth truths that some people didn’t want unearthed or maybe that using DNA was somehow “cheating”. And indeed, it has revealed many truths. The truth is the truth and refusing to talk about it didn’t save anyone. We knew a few years later when one of the biggest opponents said they ordered a DNA test that we had won that battle, although we were a bit shell-shocked. The whole thing seems archaic today and almost unimaginable. Now, of course, we post about DNA on all of the electronic forums and most genealogists can’t imagine NOT having DNA available as a tool. Like many others, I’ve had brick walls fall that could never have met their demise any other way.

Unfortunately, the forums like Rootsweb and Genforum are much less popular today and have in many ways been usurped by Facebook. I find that unfortunate, because the Rootsweb boards and lists were meant to be searched and permanent archives were a built in feature. Ever try to find something someone posted on your Facebook timeline a few weeks later? Good luck with that.

Last year at the conference, I tweeted, as did several others. I won’t be doing that this year. I discovered that different tools (PC, MAC, iPad and iPhone) react and interact differently with Twitter and trying to work through those issues was both frustrating and distracting. This year, instead, I will TRY to blog each day at least briefly about what occurred. We’ll see how that goes. I tried to blog on my private family blog when I was overseas earlier this year too, and that did not go well for a multitude of reasons.

This year at the conference, I’m speaking as well during one of the breakout sessions. My session is titled, “How to Find Your Indian Prince(ss) Without Having to Kiss Too Many Frogs.” Unfortunately, Tim Janzen is speaking about Autosomal Mapping at the same time. I think lots of people will want to attend both of these sessions, and both do deal with using autosomal DNA as a tool. Autosomal is only a part of my presentation however.

Family Tree DNA is also providing Roundtable Discussions and I’ll be monitoring, moderating or hostessing (whatever the appropriate term) 2 separate tables, one on Saturday and one on Sunday for Y-SNPs and Mitochondrial DNA, respectively, along with other volunteers.

For those attending, I’ll see you on Friday at the reception. For those who will be waiting for information, hopefully I’ll be blogging something on Friday evening after the reception if there is anything to report. The sessions don’t actually begin until Saturday morning. Check your Twitter feeds and Facebook for other information posted by other attendees throughout the day.

The conference schedule is here.

It’s always wonderful to see my genetic genealogy friends and cousins once again, so safe journey and see you in Houston!!!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers