Peopling of Europe 2014 – Identifying the Ghost Population

Beginning with the full sequencing of the Neanderthal genome, first published in May 2010 by the Max Planck Institute with Svante Paabo at the helm, and followed shortly thereafter with a Denisovan specimen, we began to unravel our ancient history.

neanderthal reconstructed

Neanderthal man, reconstructed at the National Museum of Nature and Science in Tokyo

The photo below shows a step in the process of extracting DNA from ancient bones at Max Planck.

planck extraction

Our Y and mitochondrial DNA haplogroups take us back thousands of years in time, but at some point, where and how people were settling and intermixing becomes fuzzy. Ancient DNA can put the people of that time and place in context.  We have discovered that current populations do not necessarily represent the ancient populations of a particular locale.

Recent information discovered from ancient burials tells us that the people of Europe descend from a 3 pronged model. Until recently, it was believed that Europeans descended from Paleolithic hunter-gatherers and Neolithic farmers, a two-pronged model.

Previously, it was believed that Europe was peopled by the ancient hunter-gatherers, the Paleolithic, who originally settled in Europe beginning about 45,000 years ago. At this time, the Neanderthal were already settled in Europe but weren’t considered to be anatomically modern humans, and it was believed, incorrectly, that the two groups did not interbreed.  These hunter-gatherers were the people who settled in Europe before the last major ice age, the Younger Dryas, taking refuge in the southern portions of Europe and Eurasia, and repeopling the continent after the ice receded, about 12,000 years ago.  By that time, the Neanderthals were gone, or as we now know, at least partially assimilated.

This graphic shows Europe during the last ice age.

ice age euripe

The second settlement wave, the agriculturalist farmers from the Near East either overran or integrated with the hunter-gatherers in the Neolithic period, depending on which theory you subscribe to, about 8000-10,000 years ago.

2012 – Ancient Northern European (ANE) Hints

Beginning in 2012, we began to see hints of a third lineage that contributed to the peopling of Europe as well, from the north. Buried in the 2012 paper, Estimating admixture proportions and dates with ADMIXTOOLS by Patterson et al, was a very interesting tidbit.  This new technique showed a third population, referred to by many as a “ghost population”, because no one knew who they were, that contributed to the European population.

patterson ane

The new population was termed Ancient North Eurasian, or ANE.

Dienekes covered this paper in his blog, but without additional information, in the community in general, there wasn’t much more than a yawn.

2013 – Mal’ta Child Stirs Excitement

The first real hint of meat on the bones of ANE came in the form of ancient DNA analysis of a 24,000 year old Siberian boy that has come to be named Mal’ta (Malta) Child. In the original paper, by Raghaven et al, Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans, he was referred to as MA-1.  I wrote about this in my article titled Native American Gene Flow – Europe?, Asia and the Americas.   Dienekes wrote about this paper as well.

This revelation caused quite a stir, because it was reported that the Ancestor of Native Americans in Asia was 30% Western Eurasian.  Unfortunately, in some cases, this was immediately interpreted to mean that Native Americans had come directly from Europe which is not what this paper said, nor inferred.  It was also inferred that the haplogroups of this child, R* (Y) and U (mtDNA) were Native American, which is also incorrect.  To date, there is no evidence for migration to the New World from Europe in ancient times, but that doesn’t mean we aren’t still looking for that evidence in early burials.

What this paper did show was that Europeans and Native Americans shared a common ancestor, and that the Siberian population had contributed to the European population as well as the Native American population.  In other words, descendants settled in both directions, east and west.

The most fascinating aspect of this paper was the match distribution map, below, showing which populations Malta child matched most closely.

malta child map

As you can see, MA-1, Malta Child, matches the Native American population most closely, followed by the northern European and Greenland populations. The further south in Europe and Asia, the more distant the matches and the darker the blue.

2013 – Michael Hammer and Haplogroup R

Last fall at the Family Tree DNA conference, Dr. Michael Hammer, from the Hammer Lab at the University of Arizona discussed new findings relative to ancient burials, specifically in relation to haplogroup R, or more specifically, the absence of haplogroup R in those early burials.

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Based on the various theories and questions, ancient burials were enlightening.

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In 2013, there were a total of 32 burials from the Neolithic period, after farmers arrived from the Near East, and haplogroup R did not appear. Instead, haplogroups G, I and E were found.

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What this tells us is that haplogroup R, as well as other haplogroup, weren’t present in Europe at this time. Having said this, these burials were in only 4 locations and, although unlikely, R could be found in other locations.

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Last year, Dr. Hammer concluded that haplogroup R was not found in the Paleolithic and likely arrived with the Neolithic farmers. That shook the community, as it had been widely believed that haplogroup R was one of the founding European haplogroups.

hammer 2013-12

While this provided tantalizing information, we still needed additional evidence. No paper has yet been published that addresses these findings.  The mass full sequencing of the Y chromosome over this past year with the introduction of the Big Y will provide extremely valuable information about the Y chromosome and eventually, the migration path into and across Europe.

2014 – Europe’s Three Ancient Tribes

In September 2014, another paper was published by Lazaridis et al that more fully defined this new ANE branch of the European human family tree.  An article in BBC News titled Europeans drawn from three ancient ‘tribes’ describes it well for the non-scientist.  Of particular interest in this article is the artistic rendering of the ancient individual, based on their genetic markers.  You’ll note that they had dark skin, dark hair and blue eyes, a rather unexpected finding.

In discussing the paper, David Reich from Harvard, one of the co-authors, said, “Prior to this paper, the models we had for European ancestry were two-way mixtures. We show that there are three groups. This also explains the recently discovered genetic connection between Europeans and Native Americans.  The same Ancient North Eurasian group contributed to both of them.”

The paper, Ancient human genomes suggest three ancestral populations for present-day Europeans, appeared as a letter in Nature and is behind a paywall, but the supplemental information is free.

The article summary states the following:

We sequenced the genomes of a ~7,000-year-old farmer from Germany and eight ~8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1, 2, 3, 4 with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians3, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations’ deep relationships and show that early European farmers had ~44% ancestry from a ‘basal Eurasian’ population that split before the diversification of other non-African lineages.

This paper utilized ancient DNA from several sites and composed the following genetic contribution diagram that models the relationship of European to non-European populations.

Lazaridis tree

Present day samples are colored purple, ancient in red and reconstructed ancestral populations in green. Solid lines represent descent without admixture and dashed lines represent admixture.  WHG=western European hunter-gatherer, EEF=early European farmer and ANE=ancient north Eurasian

2014 – Michael Hammer on Europe’s Ancestral Population

For anyone interested in ancient DNA, 2014 has been a banner years. At the Family Tree DNA conference in Houston, Texas, Dr. Michael Hammer brought the audience up to date on Europe’s ancestral population, including the newly sequenced ancient burials and the information they are providing.

hammer 2014

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Dr. Hammer said that ancient DNA is the key to understanding the historical processes that led up to the modern. He stressed that we need to be careful inferring that the current DNA pattern is reflective of the past because so many layers of culture have occurred between then and now.

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Until recently, it was assumed that the genes of the Neolithic farmers replaced those of the Paleolithic hunter-gatherers. Ancient DNA is suggesting that this is not true, at least not on a wholesale level.

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The theory, of course, is that we should be able to see them today if they still exist. The migration and settlement pattern in the slide below was from the theory set forth in the 1990s.

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In 2013, Dr. Hammer discussed the theory that haplogroup R1b spread into Europe with the farmers from the Near East in the Neolithic. This year, he expanded upon that topic that based on the new findings from ancient burials.

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Last year, Dr. Hammer discussed 32 burials from 4 sites. Today, we have information from 15 ancient DNA sites and many of those remains have been full genome sequenced.

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Information from papers and recent research suggests that Europeans also have genes from a third source lineage, nicknamed the “ghost population of North Eurasia.”

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Scientists are finding a signal of northeast Asian related admixture in northern Europeans, first suggested in 2012.  This was confirmed with the sequencing of Malta child and then in a second sequencing of Afontova Gora2 in south central Siberia.

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We have complete genomes from nine ancient Europeans – Mesolithic hunter gatherers and Neothilic farmers. Hammer refers to the Mesolithic here, which is a time period between the Paleolithic (hunter gatherers with stone tools) and the Neolithic (farmers).

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In the PCA charts, shown above, you can see that Europeans and people from the Near East cluster separately, except for a bridge formed by a few Mediterranean and Jewish populations. On the slide below, the hunter-gatherers (WHG) and early farmers (EEF) have been overlayed onto the contemporary populations along with the MA-1 (Malta Child) and AG2 (Afontova Gora2) representing the ANE.

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When sequenced, separate groups formed including western hunter gathers and early european farmers include Otzi, the iceman.  A third group is the north south clinal variation with ANE contributing to northern European ancestry.  The groups are represented by the circles, above.

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Dr. Hammer said that the team who wrote the “Ancient Human Genomes” paper just recently published used an F3 test, results shown above, which shows whether populations are an admixture of a reference population based on their entire genome. He mentioned that this technique goes well beyond PCA.

hammer 2014-13

Mapped onto populations today, most European populations are a combination of the three early groups. However, the ANE is not found in the ancient Paleolithic or Neolithic burials.  It doesn’t arrive until later.

hammer 2014-14

This tells us that there was a migration event 45,000 years ago from the Levant, followed about 7000 years ago by farmers from the Near East, and that ANE entered the population some time after that. All Europeans today carry some amount of ANE, but ancient burials do not.

These burials also show that southern Europe has more Neolithic farmer genes and northern Europe has more Paleolithic/Mesolithic hunter-gatherer genes.

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Pigmentation for light skin came with farmers – blue eyes existed in hunter gatherers even though their skin was dark.

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Dr. Hammer created these pie charts of the Y and mitochondrial haplogroups found in the ancient burials as compared to contemporary European haplogroups.

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The pie chart on the left shows the haplogroups of the Mesolithic burials, all haplogroup I2 and subclades. Note that in the current German population today, no I2a1b and no I1 was found.  The chart on the right shows current Germans where haplogroup I is a minority.

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Therefore, we can conclude that haplogroup I is a good candidate to be identified as a Paleolithic/Mesolithic haplogroup.

This information shows that the past is very different from today.

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In 2014 we have many more burials that have been sequenced than last year, as shown on the map above.

Green represents Neolithic farmers, red are Mesolithic hunter-gatherers, brown at bottom right represents more recent samples from the Metallic age.

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There are a total of 48 Neolithic burials where haplogroup G dominates. In the Mesolithic, there are a total of six haplogroup I.

This suggests that haplogroup I is a good candidate to be the father of the Paleolithic/Mesolithic and haplogroup G, the founding father of the Neolithic.

In addition to haplogroup G in the Neolithic, one sample of both E1b1b1 (M35) and C were also found in Spain.  E1b1b1 isn’t surprising given it’s north African genesis, but C was quite interesting.

The Metal ages, which according to wiki begin about 3300BC in Europe, is where haplogroup R, along with I1, first appear.

diffusion of metallurgy

Please note that the diffusion of melallurgy map above is not part of Dr. Hammer’s presentation. I have added it for clarification.

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Nothing is constant in Europe. The Y DNA was very upheaved, as indicated on the graphic above.  Mitochondrial DNA shifted from pre-Neolithic to Neolithic which isn’t terribly different from the present day.

Dr. Hammer did not say this, but looking at the Y versus the mtDNA haplogroups, I wonder if this suggests that indeed there was more of a replacement of the males in the population, but that the females were more widely assimilated. This would certainly make sense, especially if the invaders were warriors and didn’t have females with them.  They would have taken partners from the invaded population.

Haplogroup G represents the spread of farming into Europe.

hammer 2014-22

The most surprising revelation is that haplogroup R1b appears to have emerged after the Neolithic agriculture transition. Given that just three years ago we thought that haplogroup R1b was one of the original European settlers thousands of years ago, based on the prevalence of haplogroup R in Europe today, at about 50%, this is a surprising turn of events.  Last year’s revelation that R was maybe only 7000-8000 years old in Europe was a bit of a whammy, but the age of R in Europe in essence just got halved again and the source of R1b changed from the Near East to the Asian steppes.

Obviously, something conferred an advantage to these R1b men. Given that they arrived in the early Metalic age, was it weapons and chariots that enabled the R1b men who arrived to quickly become more than half of the population?

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The Bronze Age saw the first use of metal to create weapons. Warrior identity became a standard part of daily life.  Celts ranged over Europe and were the most dominant iron age warriors.  Indo-European languages and chariots arrived from Asia about this time.

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The map above shows the Hallstadt and LaTene Celtic cultures in Europe, about 600BC. This was not a slide presented by Dr. Hammer.

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Haplogroup R1b was not found in an ancient European context prior to a Bell Beaker period burial in Germany 4.8-4.0 kya (thousand years ago, i.e. 4,800-4,000 years ago).  R1b arrives about 4.6 kya and is also found in a Corded Ware culture burial in Germany.  A late introduction of these lineages which now predominate in Europe corresponds to the autosomal signal of the entry of Asian and Eastern European steppe invaders into western Europe.

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Local expansion occurred in Europe of R1b subgroups U106, L21 and U152.

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A current haplogroup R distribution map that reflects the findings of this past year is shown above.

Haplogroup I is interesting for another reason. It looks like haplogroup I2a1b (M423) may have been replaced by I1 which expanded after the Mesolithic.

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On the slide above, the Loschbour sample from Luxembourg was mapped onto a current haplogroup I SNP map where his closest match is a current day Russian.

One of the benefits of ancient DNA genome processing is that we will be able to map current trees into maps of old SNPs and be able to tell who we match most closely.

Autosomal DNA can also be mapped to see how much of our DNA is from which ancient population.

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Dr. Hammer mapped the percentages of European Mesolithic/Paleolithic hunter-gatherers in blue, Neolithic Farmers from the Near East in magenta and Asian Steppe Invaders representing ANE in yellow, over current populations. Note the ancient DNA samples at the top of the list.  None of the burials except for Malta Child carry any yellow, indicating that the ANE entered the European population with the steppe invaders; the same group that brought us haplogroup R and possibly I1.

Dr. Hammer says that ANE was introduced to and assimilated into the European population by one or more incursions. We don’t know today if ANE in Europeans is a result of a single blast event or multiple events.  He would like to do some model simulations and see if it is related to timing and arrival of swords and chariots.

We know too that there are more recent incursions, because we’re still missing major haplogroups like J.

The further east you go, meaning the closer to the steppes and Volga region, the less well this fits the known models. In other words, we still don’t have the whole story.

At the end of the presentation, Michael was asked if the whole genomes sequenced are also obtaining Y STR data, which would allow us to compare our results on an individual versus a haplogroup level. He said he didn’t know, but he would check.

Family Tree DNA was asked if they could show a personal ancient DNA map in myOrigins, perhaps as an alternate view. Bennett took a vote and that seemed pretty popular, which he interpreted as a yes, we’d like to see that.

In Summary

The advent of and subsequent drop in the price of whole genome sequencing combined with the ability to extract ancient DNA and piece it back together have provided us with wonderful opportunities.  I think this is jut the proverbial tip of the iceberg, and I can’t wait to learn more.

If you are interested in other articles I’ve written about ancient DNA, check out these links:

Family Tree DNA Announces *Free Autosomal Transfer from 23andMe and Ancestry

dna ballOne of the major announcements this past week at the Family Tree DNA administrator’s conference was that Family Tree DNA will now be accepting, and encouraging, free data transfers from both 23andMe (V3 chip only) and Ancestry.com.

*For free, you will be able to see your top 20 matches, but if you want to contact those matches or unlock the rest of the Family Finder functionality and tools at Family Tree DNA, you’ll need to pay $39 or recruit 4 additional people to upload their files, whether they pay to join or not.  Compared to retesting at $99 or the previous transfer price of $69, this is a great value.

Yesterday, I received this notification from Family Tree DNA that was sent to all project administrators.

As Senior Director of Product Michael Gugel shared at the recent conference, for the first time ever, people that have taken an AncestryDNA™ or 23andMe© (V3) test can transfer into the FTDNA databases for free by visiting https://www.familytreedna.com/AutosomalTransfer? and following the instructions to upload their raw data file.

Within an hour or two, we provide a preview of what’s waiting if they transfer by showing the top 20 matches along with an estimate of the total number of matches in the FTDNA database.

Full functionality can be unlocked by either paying $39 or recruiting four other people to upload, thus unlocking the rest of the matches.

Here are some important points to know:

  • We only accept the 23andMe V3 chip that was used on tests sold between November 2010 and approximately November 2013. There are a couple of ways to find out what chip was used for your test other than simply the timeframe. One is size; v3 chip files are about 7.83 MB where V2 and V4 chips are smaller. If you’re tech savvy, you can unzip the file and check chromosomes: Chromosome 1 for v3 starts at 82154 (rs4477212) where v4 starts at 734462 (rs12564807)and v2 starts with position 742429 (rs3094315).
  • We do not have any plans to accept V2 or V4 chips. if you try to upload the wrong chip version, the system will tell you that the file doesn’t have sufficient data. Since neither chip contains enough of the SNPs included in Family Finder, we would have to impute too much data. Basically we’d have to make assumptions about the missing SNPs that we’re just not willing to make at this point.

Blaine Bettinger at The Genetic Genealogist wrote detailed instructions about how to do the transfer and what to expect, so take a look.

At the $39 price, or recruit 4 and it’s entirely free, this transfer becomes the best autosomal vendor value available today. I know that people are already taking advantage of this offer, because I’m seeing new people join my projects and their item purchased indicates “free transfer.”

Spending the $39 (or recruiting 4 additional participants) allows you to unlock and access the following Family Finder features:

  • Full data base matching
  • Ability to contact matches directly via e-mail
  • Ability to join projects that accept autosomal participants
  • Ability to see matches by and within projects
  • Searching for matches by surname
  • Searching for matches by ancestral surname
  • Ability to view your matches family trees
  • Ability to upload your GEDCOM file or create your family tree to facilitate surname matching
  • Utilizing the “In Common With” tool to see who you and your matches both match
  • Utilizing the Matrix to see if your matches also match each other, suggesting a common ancestor
  • Seeing results on the Chromosome browser
  • myOrigins ethnicity information

The more kits in the data base, the more matches, so don’t wait.  You can’t lose by doing the free transfer and seeing what matches might be waiting for you.

Anzick (12,707-12,556), Ancient One, 52 Ancestors #42

anzick burial location

His name is Anzick, named for the family land, above, where his remains were found, and he is 12,500 years old, or more precisely, born between 12,707 and 12,556 years before the present.  Unfortunately, my genealogy software is not prepared for a birth year with that many digits.  That’s because, until just recently, we had no way to know that we were related to anyone of that age….but now….everything has changed ….thanks to DNA.

Actually, Anzick himself is not my direct ancestor.  We know that definitively, because Anzick was a child when he died, in present day Montana.

anzick on us map

Anzick was loved and cherished, because he was smeared with red ochre before he was buried in a cave, where he would be found more than 12,000 years later, in 1968, just beneath a layer of approximately 100 Clovis stone tools, shown below.  I’m sure his parents then, just as parents today, stood and cried as the laid their son to rest….never suspecting just how important their son would be some 12,500 years later.

anzick clovis tools

From 1968 until 2013, the Anzick family looked after Anzick’s bones, and in 2013, Anzick’s DNA was analyzed.

DNA analysis of Anzick provided us with his mitochondrial haplogroup,  D4h3a, a known Native American grouping, and his Y haplogroup was Q-L54, another known Native American haplogroup.  Haplogroup Q-L54 itself is estimated to be about 16,900 years old, so this finding is certainly within the expected range.  I’m not related to Anzick through Y or mitochondrial DNA.

Utilizing the admixture tools at GedMatch, we can see that Anzick shows most closely with Native American and Arctic with a bit of east Siberian.  This all makes sense.

Anzick MDLP K23b

Full genome sequencing was performed on Anzick, and from that data, it was discovered that Anzick was related to Native Americans, closely related to Mexican, Central and South Americans, and not closely related to Europeans or Africans.  This was an important discovery, because it in essence disproves the Solutrean hypothesis that Clovis predecessors emigrated from Southwest Europe during the last glacial maximum, about 20,000 years ago.

anzick matches

The distribution of these matches was a bit surprising, in that I would have expected the closest matches to be from North America, in particular, near to where Anzick was found, but his closest matches are south of the US border.  Although, in all fairness, few people in Native tribes in the US have DNA tested and many are admixed.

This match distribution tells us a lot about population migration and distribution of the Native people after they left Asia, crossed Beringia on the land bridge, now submerged, into present day Alaska.

This map of Beriginia, from the 2008 paper by Tamm et all, shows the migration of Native people into (and back from) the new world.

beringia map

Anzick’s ancestors crossed Beringia during this time, and over the next several thousand years, found their way to Montana.  Some of Anzick’s relatives found their way to Mexico, Central and South America.  The two groups may have split when Anzick’s family group headed east instead of south, possibly following the edges of glaciers, while the south-moving group followed the coastline.

Recently, from Anzick’s full genome data, another citizen scientist extracted the DNA locations that the testing companies use for autosomal DNA results, created an Anzick file, and uploaded the file to the public autosomal matching site, GedMatch.  This allowed everyone to see if they matched Anzick.  We expected no, or few, matches, because after all, Anzick was more than 12,000 years old and all of his DNA would have washed out long ago due to the 50% replacement in every generation….right?  Wrong!!!

What a surprise to discover fairly large segments of DNA matching Anzick in living people, and we’ve spent the past couple of weeks analyzing and discussing just how this has happened and why.  In spite of some technical glitches in terms of just how much individual people carry of the same DNA Anzick carried, one thing is for sure, the GedMatch matches confirm, in spades, the findings of the scientists who wrote the recent paper that describes the Anzick burial and excavation, the subsequent DNA processing and results.

For people who carry known Native heritage, matches, especially relatively large matches to Anzick, confirm not only their Native heritage, but his too.

For people who suspect Native heritage, but can’t yet prove it, an Anzick match provides what amounts to a clue – and it may be a very important clue.

In my case, I have proven Native heritage through the Micmac who intermarried with the Acadians in the 1600s in Nova Scotia.  Given that Anzick’s people were clearly on a west to east movement, from Beringia to wherever they eventually wound up, one might wonder if the Micmac were descended from or otherwise related to Anzick’s people.  Clearly, based on the genetic affinity map, the answer is yes, but not as closely related to Anzick as Mexican, Central and South Americans.

After several attempts utilizing various files, thresholds and factors that produced varying levels of matching to Anzick, one thing is clear – there is a match on several chromosomes.  Someplace, sometime in the past, Anzick and I shared a common ancestor – and it was likely on this continent, or Beringia, since the current school of thought is that all Native people entered the New World through this avenue.  The school of thought is not united in an opinion about whether there was a single migration event, or multiple migrations to the new word.  Regardless, the people came from the same base population in far northeast Asia and intermingled after arriving here if they were in the same location with other immigrants.

In other words, there probably wasn’t much DNA to pass around.  In addition, it’s unlikely that the founding population was a large group – probably just a few people – so in very short order their DNA would be all the same, being passed around and around until they met a new population, which wouldn’t happen until the Europeans arrived on the east side of the continent in the 1400s.  The tribes least admixed today are found south of the US border, not in the US.  So it makes sense that today the least admixed people would match Anzick the most closely – because they carry the most common DNA, which is still the same DNA that was being passed around and around back then.

Many of us with Native ancestors do carry bits and pieces of the same DNA as Anzick.  Anzick can’t be our ancestor, but he is certainly our cousin, about 500 generations ago, using a 25 year generation, so roughly our 500th cousin.  I had to laugh at someone this week, an adoptee who said, “Great, I can’t find my parents but now I have a 12,500 year old cousin.”  Yep, you do!  The ironies of life, and of genealogy, never fail to amaze me.

Utilizing the most conservative matching routine possible, on a phased kit, meaning one that combines the DNA shared by my mother and myself, and only that DNA, we show the following segment matches with Anzick.

Chr Start Location End Location Centimorgans (cM) SNPs
2 218855489 220351363 2.4 253
4 1957991 3571907 2.5 209
17 53111755 56643678 3.4 293
19 46226843 48568731 2.2 250
21 35367409 36761280 3.7 215

Being less conservative produces many more matches, some of which are questionable as to whether they are simply convergence, so I haven’t utilized the less restrictive match thresholds.

Of those matches above, the one on chromosomes 17 matches to a known Micmac segment from my Acadian lines and the match on chromosome 2 also matches an Acadian line, but I share so many common ancestors with this person that I can’t tell which family line the DNA comes from.

There are also Anzick autosomal matches on my father’s side.  My Native ancestry on his side reaches back to colonial America, in either Virginia or North Carolina, or both, and is unproven as to the precise ancestor and/or tribe, so I can’t correlate the Anzick DNA with proven Native DNA on that side.  Neither can I associate it with a particular family, as most of the Anzick matches aren’t to areas on my chromosome that I’ve mapped positively to a specific ancestor.

Running a special utility at GedMatch that compared Anzick’s X chromosome to mine, I find that we share a startlingly large X segment.  Sometimes, the X chromosome is passed for generations intact.

Interestingly enough, the segment 100,479,869-103,154,989 matches a segment from my mother exactly, but the large 6cM segment does not match my mother, so I’ve inherited that piece of my X from my father’s line.

Chr Start Location End Location Centimorgans (cM) SNPs
X 100479869 103154989 1.4 114
X 109322285 113215103 6.0 123

This tells me immediately that this segment comes from one of the pink or blue lines on the fan chart below that my father inherited from his mother, Ollie Bolton, since men don’t inherit an X chromosome from their father.  Utilizing the X pedigree chart reduces the possible lines of inheritance quite a bit, and is very suggestive of some of those unknown wives.

olliex

It’s rather amazing, if you think about it, that anyone today matches Anzick, or that we can map any of our ancestral DNA that both we and Anzick carry to a specific ancestor.

Indeed, we do live in exciting times.

Honoring Anzick

On a rainy Saturday in June, 2014, on a sagebrush hillside in Montana, in Native parlance, our “grandfather,” Anzick was reburied, bringing his journey full circle.  Sarah Anzick, a molecular biologist, the daughter of the family that owns the land where the bones were found, and who did part of the genetic discovery work on Anzick, returns the box with his bones for reburial.

anzick bones

More than 50 people, including scientists, members of the Anzick family and representatives of six Native American tribes, gathered for the nearly two-hour reburial ceremony. Tribe members said prayers, sang songs, played drums and rang bells to honor the ancient child. The bones were placed in the grave and sprinkled with red ocher, just like when his parents buried him some 12,500 years before.

Participants at the reburial ceremony filled in the grave with handfuls, then shovelfuls of dirt and covered it with stones. A stick tied with feathers marks Anzick’s final resting place.

Sarah Anzick tells us that, “At that point, it stopped raining. The clouds opened up and the sun came out. It was an amazing day.”

I wish I could have been there.  I would have, had I known.  After all, he is part of me, and I of him.

anzick grave'

Welcome to the family, Anzick, and thank you, thank you oh so much, for your priceless, unparalleled gift!!!

tobacco

If you want to read about the Anzick matching journey of DNA discovery, here are the articles I’ve written in the past two weeks.  It has been quite a roller coaster ride, but I’m honored and privileged to be doing this research.  And it’s all thanks to an ancient child named Anzick.

Utilizing Ancient DNA at Gedmatch

Analyzing the Native American Anzick Clovis Native American Results

New Native American Mitochondrial DNA Haplogroups Extrapolated from Anzick Match Results

Ancient DNA Matching, A Cautionary Tale

More Ancient DNA Samples for Comparison

Guide to DNA Testing by Richard Hill

guide to dna testing

Richard Hill, author of “Finding Family; My Search for Roots and the Secrets in my DNA,” just released his second book, “Guide to DNA Testing; How to Identify Ancestors, Confirm Relationships and Measure Ethnicity through DNA Testing” in Kindle format for just 99 cents through Amazon.

While Richard’s first book was the story of his personal search for his biological parents, this second book is an introductory primer for those who are just getting their feet wet in genetic genealogy, or thinking about getting their feet wet.  It’s relatively short, just 23 pages, so it’s not overwhelming.

guide to dna testing toc

Guide to DNA Testing isn’t a “how to” book in terms of utilizing DNA results, but a basic introduction to the field of genetic genealogy, the major players, meaning Family Tree DNA, 23andMe and Ancestry.com, who sells what and how those tests work at a basic level.

Richard approaches the topic in terms of developing a testing strategy to obtain the answers for whatever it is that you are seeking through DNA testing.

My favorite part of the book is a table at the end that provides commentary in columns about the 3 test types, autosomal, Y and mitochondrial, and what each provides:

  • What is checked
  • Principal uses
  • Strengths
  • Limitations
  • Recommended tests

Useful, accurate, unbiased, Guide to DNA Testing and would be perfect for a new person seeking general information.  For the rest of us, it gives us a great “go to” resource for new people instead of trying to explain from scratch.  Great job Richard!!!

Stone Helix

thea alvin helix

In the just for fun category, I was thrilled when I found these helix earthworks, made from stone by Thea Alvin, a stonemason, at www.myearthwork.com.  They are just incredible with the stones held in place by gravity alone.

thea alvin helix2

I don’t know about you, but I want one of these in my yard. Oh yeah!!!!

thea alvin3

The three arch helix structure is on Thea’s property between Morrisville and Stowe, Vermont. She has transformed her yard into a sculpture park and it’s open 10-6 on weekends to the public, or by prior arrangement.  You can also request a tour by dropping Thea an e-mail at thea@myearthwork.com.  She has also opened an artistan gallery in her barn called Rock, Paper, Scissors.

From Stowe, take Route 100 south towards Morrisville; look for the looping, three-arch stone sculpture and My Earthwork sign.  I have a trip planned to Vermont next year.  Maybe I’ll visit.

Here’s an article in the local Stowe paper and here’s a video of Thea where she discusses wanting to create stoneworks that are timeless.  I wonder if she realizes just how spiritual and timeless the helix, in particular the double helix is, reaching back through the entire timeline of humankind.

Maybe her next project will be to create a true double helix! What do you think, Thea?  Are you game???

 

Tenth Annual Family Tree DNA Conference Wrapup

baber summary

This slide, by Robert Baber, pretty well sums up our group obsession and what we focus on every year at the Family Tree DNA administrator’s conference in Houston, Texas.

Getting to Houston, this year, was a whole lot easier than getting out of Houston. They had storms yesterday and many of us spent the entire day becoming intimately familiar with the airport.  Jennifer Zinck, of Ancestor Central, is still there today and doesn’t have a flight until late.

And this is how my day ended, after I finally got out of Houston and into my home airport. This isn’t at the airport, by the way.  Everything was fine there, but I made the apparent error of stopping at a Starbucks on the way home.  This is the parking lot outside an hour or so later.  What can I say?  At least I had my coffee, and AAA rocks, as did the tow truck driver and my daughter for getting out of bed to come and rescue me!!!  Hmmm, I think maybe things have gone full circle.  I remember when I used to go and rescue her:)

jeep tow

So far, today hasn’t improved any, so let’s talk about something much more pleasant…the conference itself.

Resources

One of the reasons I mentioned Jennifer Zinck, aside from the fact that she’s still stuck in the airport, is because she did a great job actually covering the conference as it happened. Since I had some time yesterday to visit with her since our gates weren’t terribly far apart, I asked her how she got that done.  I took notes too, and photos, but she turned out a prodigious amount of work in a very short time.  While I took a lightweight MacBook Air, she took her regular PC that she is used to typing on, and she literally transcribed as the sessions were occurring.  She just added her photos later, and since she was working on a platform that she was familiar with, she could crop and make the other adjustments you never see but we perform behind the scenes before publishing a photo.

On the other hand, I struggled with a keyboard that works differently and is a different size than I’m used to as well as not being familiar with the photo tools to reduce the size of pictures, so I just took rough notes and wrote the balance later.  Having familiar tools make such a difference.  I think I’ll carry my laptop from now on, even though it is much heavier.  Kudos to Jennifer!

I was initially going to summarize each session, but since Jen did such a good job, I’m posting her links. No need to recreate a wheel that doesn’t need to be recreated.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy/

ISOGG, the International Society of Genetic Genealogy is not affiliated with Family Tree DNA or any testing company, but Family Tree DNA is generous enough to allow an ISOGG meeting on Sunday before the first conference session.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-isogg-meeting/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-sunday/

You can find my conference postings here:

http://dna-explained.com/2014/10/11/tenth-annual-family-tree-dna-conference-opening-reception/

http://dna-explained.com/2014/10/12/tenth-annual-family-tree-dna-conference-day-2/

http://dna-explained.com/2014/10/13/tenth-annual-family-tree-dna-conference-day-3/

Several people were also posting on a twitter feed as well.

https://twitter.com/search?q=%23FTDNA2014&src=tyah

Those of you where are members of the ISOGG Yahoo group for project administrators can view photos posted by Katherine Borges in that group and there are also some postings on the Facebook ISOGG group as well.

Now that you have the links for the summaries, what I’d like to do is to discuss some of the aspects I found the most interesting.

The Mix

When I attended my first conference 10 years ago, I somehow thought that for the most part, the same group of people would be at the conferences every year. Some were, and in fact, a handful of the 160+ people attending this conference have attended all 10 conferences.  I know of two others for certain, but there were maybe another 3 or so who stood up when Bennett asked for everyone who had been present at all 10 conferences to stand.

Doug Mumma, the very first project administrator was with us this weekend, and still going strong. Now, if Doug and I could just figure out how we’re related…

Some of the original conference group has passed on to the other side where I’m firmly convinced that one of your rewards is that you get to see all of those dead ends of your tree. If we’re lucky, we get to meet them as well and ask all of those questions we have on this side.  We remember our friends fondly, and their departure sadly, but they enriched us while they were here and their memories make us smile.  I’m thinking specifically of Kenny Hedgepath and Leon Little as I write this, but there have been others as well.

The definition of a community is that people come and go, births, deaths and moves.

This year, about half of the attendees had never attended a conference before. I was very pleased to see this turn of events – because in order to survive, we do need new people who are as crazy as we are…er….I mean as dedicated as we are.

isogg reception

ISOGG traditionally hosts a potluck reception on Saturday evening. Lots of putting names with faces going on here.

Collaboration

I asked people about their favorite part of the conference or their favorite session. I was surprised at the number of people who said lunches and dinners.  Trust me, the food wasn’t that wonderful, so I asked them to elaborate.  In essence, the most valuable aspect of the conference was working with and talking to other administrators.

bar talk

It’s not like we don’t talk online, but there is somehow a difference between online communications and having a group discussion, or a one-on-one discussion. Laptops were out and in use everyplace, along with iPads and other tools.  It was so much fun to walk by tables and hear snippets of conversations like “the mutation at location 309.1….” and “null marker at 425” and “I ordered a kit for my great uncle…..”

I agree, as well. I had pre-arranged two dinners before arriving in order to talk with people with whom I share specific interests.  At lunches, I either tried to sit with someone I specifically needed to talk to, or I tried to meet someone new.

I also asked people about their specific goals for the next year. Some people had a particular goal in mind, such as a specific brick wall that needs focus.  Some, given that we are administrators, had wider-ranging project based goals, like Big Y testing certain family groups, and a surprising number had the goal of better utilizing the autosomal results.

Perhaps that’s why there were two autosomal sessions, an introduction by Jim Bartlett and then Tim Janzen’s more advanced session.

Autosomal DNA Results

jim bartlett

Note the cool double helix light fixture behind the speakers.

tim janzen

Tim specifically mentioned two misconceptions which I run across constantly.

Misconception 1 – A common surname means that’s how you match.  Just because you find a common surname doesn’t mean that’s your DNA match.  This belief is particularly prevalent in the group of people who test at Ancestry.com.

Misconception 2 – Your common ancestor has to be within the past 6 generations.  Not true, many matches can be 6-10th cousins because there are so many descendants of those early ancestors, even as many as 15 generations back.

Tim also mentioned that endogamous relationships are a tough problem with no easy answer. Polynesians, Ashkenazi Jews, Low German Mennonites, Acadians, Amish, and island populations.  Do I ever agree with him!  I have Brethren, Mennonite and Acadian in the same parent’s line.

Tim has been working with the Mennonite DNA project now for many years.

Tim included a great resource slide.

tim slide1

Tim has graciously made his entire presentation available for download.

tim slide2

There are probably a dozen or so of us that are actively mapping our ancestors, and a huge backlog of people who would like to. As Tim pointed out with one of his slides, this is not an easy task nor is it for the people who simply want to receive “an answer.”

tim slide3

I will also add that we “mappers” are working with and actively encouraging Family Tree DNA to develop tools so that the mapping is less spreadsheet manual work and more automated, because it certainly can be.

Upload GEDCOM Files

If you haven’t already, upload your GEDCOM to Family Tree DNA.  This is becoming an essential part of autosomal matching.  Furthermore, Family Tree DNA will utilize this file to construct your surname list and that will help immensely determining common surnames and your common ancestor with your Family Finder matches.  If you have sponsored tests for cousins, then upload a GEDCOM file for them or at least construct a basic tree on their Family Tree DNA page.

Ethics

Family Tree DNA always tries to provide a speaker about ethics, and the only speakers I’ve ever felt understood anything about what we want to do are Judy Russell and Blaine Bettinger.  I was glad to see Blaine presenting this year.

blaine bettinger

The essence of Blaine’s speech is that ethics isn’t about law. Law is cut and dried.  Ethics isn’t, and there are no ethics police.

Sometimes our decisions are colored necessarily by right and wrong.  Sometimes those decisions are more about the difference between a better and a worse way.

As a community, we want to reduce negative press coverage and increase positive coverage. We want to be proactive, not reactive.

Blaine stresses that while informed consent is crucial, that DNA doesn’t reveal secrets that aren’t also revealed by other genealogical forms of research. DNA often reveals more recent secrets, such as adoptions and NPEs, so it’s possibly more sensitive.

Two things need to govern our behavior. First, we need to do only things that we would be comfortable seeing above the fold in the New York Times.  Second, understand that we can’t make promises about topics like anonymity or about the absence of medical information, because we don’t know what we don’t know.

The SNP Tsunami

One of my concerns has been and remains the huge number of new SNPs that have been discovered over the past year or so with the Big Y by Family Tree DNA and  corresponding tests from other vendors.

When I say concern, I’m thrilled about this new technology and the advances it is allowing us to make as a community to discover and define the evolution of haplogroups. My concern is that the amount of data is overwhelming.  However, we are working through that, thanks to the hours and hours of volunteer work by haplogroup administrators and others.

Alice Fairhurst, who volunteers to maintain the ISOGG haplotree, mentioned that she has added over 10,000 SNPs to the Y tree this year alone, bringing the total to over 14,000. Those SNPs are fully vetted and placed.  There are many more in process and yet more still being discovered.  On the first page of the Y SNP tree, the list of SNP sources and other critical information, such as the criteria for a SNP to be listed, is provided.

isogg tree3

isogg snps

isogg snps 2014

So, if you’re waiting for that next haplotree poster, give it up because there isn’t a printing press that big, unless you want wallpaper.

isogg new development 2014

These slides are from Alice’s presentation. The ISOGG tree provides an invaluable resource for not only the genetic genealogy community, but also researchers world-wide.

As one example of how the SNP tsunami has affected the Y tree, Alice provided the following summary of R-U106, one of the two major branches of haplogroup R.

From the ISOGG 2006 Y tree, this was the entire haplogroup R Y tree. You can see U106 near the bottom with 3 sub-branches.  While this probably makes you chuckle today, remember that 2006 was only 8 years ago and that this tree didn’t change much for several years.

2006 entire tree

2007 was the same.

2008 u106 tree

2008 shows 5 subclades and one of the subclades had 2 subclades.

2009 u106 tree

2009 showed a total of 12 sub-branches and 2010 added one more.

2011 however, showed a large change. U106 in 2011 had 44 subgroups total and became too large to show on one screen shot.  2012 shows 99 subclades, if I counted accurately.  The 2014 U106 tree is shown below.

before big y

after big y

u106 now

u106 now2

There’s another slide too, but I didn’t manage to get the picture.  You get the idea though…

As you can imagine, for Family Tree DNA, trying to keep up with all of the haplogroups, not just one subgroup like U106 is a gargantuan task that is constantly changing, like hourly. Their Y tree is currently the National Geographic tree, and while they would like to update it, I’m sure, the definition of “current tree” is in a constant state of flux.  Literally, Mike Walsh, one of the admins in the R-L21 group uploads a new tree spreadsheet several times every day.

In order to deal attempt to deal with this, and to encourage people who don’t want to do a Big Y discovery type test, but do want to ferret out their location on their assigned portion of the tree, Family Tree DNA is reintroducing the Backbone tests.

They are starting with M222, also known as the Niall of the 9 Hostages haplogroup which is their beta for the new product and new process. You can see the provisional tree and results in the two slides they provided, below.  I apologize for the quality, but it was the best I could do.

M222

m222 pie

Haplogroup administrators are going to be heavily involved in this process. Family Tree DNA is putting SNP panels together that will help further define the tree and where various SNPs that have been recently discovered, and continue to be discovered, will fall on the tree.

As Big Y tests arrive, haplogroup project administrators typically assemble a spreadsheet of the SNPS and provisionally where they fall on the tree, based on the Big Y results.

What Bennett asked is for the admins to work with Family Tree DNA to assemble a testing panel based on those results. The goal is for the cost to be between $1.50 and $2 (US) for each SNP in the panel, which will reduce the one-off SNP testing and provide a much more complete and productive result at a far reduced price as compared to the current $29 or $39 per individual SNP.

If you are a haplogroup administrator, get in touch with Family Tree DNA to discuss your desired backbone panels. New panels, when it’s your turn, will take about 2 weeks to develop.

Keep in mind that the following SNPs, according to Bennett, are not optimal for panels:

  • Palindromic regions
  • Often mutating regions designated as .1, .2, etc.
  • SNPs in STRs

Nir Leibovich, the Chief Business Officer, also addressed the future and the Big Y to some extent in his presentation.

nir leibovich

ftdna future 2014

Utilizing the Big Y for Genealogy

In my case, during the last sale, I ordered several Big Y tests for my Estes family line because I have several genealogically documented lines from the original Estes family in Kent, England through our common ancestor, Robert Estes born in 1555 and his wife Anne Woodward. The participants also agreed to extend their markers to 111 markers as well.  When the results are back, we’ll be able to compare them on a full STR marker set, and also their SNPs.  Hopefully, they will match on their known SNPs and there will be some new novel variants that will be able to suffice as line marker mutations.

We need more BIG Y tests of these types of genealogically confirmed trees that have different sons’ lines from a distant common ancestor to test descendant lines. This will help immensely to determine the actual, not imputed, SNP mutation rate and allow us to extrapolate the ages of haplogroups more accurately.  Of course, it also goes without saying that it helps to flesh out the trees.

I personally expect the next couple of years will be major years of discovery. Yes, the SNP tsumani has hit land, but it’s far from over.

Research and Development

David Mittleman, Chief Scientific Officer, mentioned that Family Tree DNA now has their own R&D division where they are focused on how to best analyze data. They have been collaborating with other scientists.  A haplogroup G1 paper will be published shortly which states that SNP mutation rates equate to Sanger data.

FTDNA wants to get Big Y data into the public domain. They have set up consent for this to be done by uploading into NCBI.  Initially they sent a survey to a few people that  sampled the interest level.  Those who were interested received a release document.  If you are interested in allowing FTDNA to utilize your DNA for research, be it mitochondrial, Y or autosomal, please send them an e-mail stating such.

Don’t Forget About Y Genealogy Research

It’s very easy for us to get excited about the research and discovery aspect of DNA – and the new SNPs and extending haplotrees back in time as far as possible, but sometimes I get concerned that we are forgetting about the reason we began doing genetic genealogy in the first place.

Robert Baber’s presentation discussed the process of how to reconstruct a tree utilizing both genealogy and DNA results. It’s important to remember that the reason most of our participants test is to find their ancestors, not, primarily, to participate in the scientific process.

Robert baber

edward baber

Robert has succeeded in reconstructing 110 or 111 markers of the oldest known Baber ancestor, shown above. I wrote about how to do this in my article titled, Triangulation for Y DNA.

Not only does this allow us to compare everyone with the ancestor’s DNA, it also provides us with a tool to fit individuals who don’t know specific genealogical line into the tree relatively accurately. When I say relatively, the accuracy is based on line marker mutations that have, or haven’t, happened within that particular family.

Jim illustrated how to do this as well, and his methodology is available at the link on his slide, below.

baber method

I had to laugh. I’ve often wondered what our ancestors would think of us today.  Robert said that that 11 generations after Edward Baber died, he flew over church where Edward was buried and wondered what Edward would have thought about what we know and do today – cars, airplanes, DNA, radio, TV etc..  If someone looked in a crystal ball and told Edward what the future held 11 generations later, he would have thought that they were stark raving mad.

Eleven generations from my birth is roughly the year 2280. I’m betting we won’t be trying to figure out who our ancestors were through this type of DNA analysis then.  This is only a tiny stepping stone to an unknown world, as different to us as our world is to Edward Baber and all of our ancestors who lived in a time where we know their names but their lives and culture are entirely foreign to ours.

Publications

When the Journal of Genetic Genealogy was active, I, along with other citizen scientists published regularly.  The benefit of the journal was that it was peer reviewed and that assured some level of accuracy and because of that, credibility, and it was viewed by the scientific community as such.  My co-authored works published in JOGG as well as others have been cited by experts in the academic community.  It other words, it was a very valuable journal.  Sadly, it has fallen by the wayside and nothing has been published since 2011.  A new editor was recruited, but given their academic load, they have not stepped up to the plate.  For the record, I am still hopeful for a resurrection, but in the mean time, another opportunity has become available for genetic genealogists.

Brad Larkin has founded the Surname DNA Journal, which, like JOGG, is free to both authors and subscribers. In case you weren’t aware, most academic journal’s aren’t.  While this isn’t a large burden for a university, fees ranging from just over $1000 to $5000 are beyond the budget of genetic genealogists.  Just think of how many DNA tests one could purchase with that money.

brad larkin

surname dna journal

Brad has issued a call for papers. These papers will be peer reviewed, similarly to how they were reviewed for JOGG.

call for papers

Take a look at the articles published in this past year, since the founding of Surname DNA Journal.

The citizen science community needs an avenue to publish and share. Peer reviewed journals provide us with another level of credibility for our work. Sharing is clearly the lynchpin of genetic genealogy, as it is with traditional genealogy. Give some thought about what you might be able to contribute.

Brad Larkin solicited nominations prior to the conference and awarded a Genetic Genealogist of the Year award. This year’s award was dually presented to Ian Kennedy in Australia, who, unfortunately, was not present, and to CeCe Moore, who just happened to follow Brad’s presentation with her own.

Don’t Forget about Mitochondrial DNA Either

I believe that mitochondrial DNA the most underutilized DNA tool that we have, often because how to use mitochondrial DNA, and what it can tell you, is poorly understood. I wrote about this in an article titled, Mitochondrial, The Maligned DNA.

Given that I work with mitochondrial DNA daily when I’m preparing client’s Personalized DNA Reports (orderable from your personal page at Family Tree DNA or directly from my website), I know just how useful mitochondrial can be and see those examples regularly. Unfortunately, because these are client reports, I can’t write about them publicly.

CeCe Moore, however, isn’t constrained by this problem, because one of the ways she contributes to genetic genealogy is by working with the television community, in particular Genealogy Roadshow and the PBS series, Finding Your Roots. Now, I must admit, I was very surprised to see CeCe scheduled to speak about mitochondrial DNA, because the area of expertise where she is best known is autosomal DNA, especially in conjunction with adoptee research.

cece moore

cece mtdna

During the research for the production of these shows, CeCe has utilized mitochondrial DNA with multiple celebrities to provide information such as the ethnic identification of the ancestor who provided the mitochondrial DNA as Native American.

Autosomal DNA testing has a broad but shallow reach, across all of your lines, but just back a few generations.  Both Y and mitochondrial DNA have a very deep reach, but only on one specific line, which makes them excellent for identifying a common ancestor on that line, as well as the ethnicity of that individual.

I have seen other cases, where researchers connected the dots between people where no paper trail existed, but a relationship between women was suspected.

CeCe mentioned that currently there are only 44,000 full sequence results in the Family Tree DNA data base and and 185K total HVR1, HVR2 and full sequence tests. Y has half a million.  We need to increase the data base, which, of course increases matches and makes everyone happier.  If you haven’t tested your mitochondrial DNA to the full sequence level, this would be a great time!

There are several lessons on how to utilize mitochondrial DNA at this ISOGG link.

I’m very hopeful that CeCe’s presentation will be made available as I think her examples are quite powerful and will serve to inspire people.  Actually, since CeCe is in the “movie business,” perhaps a short video clip could be made available on the FTDNA website for anyone who hasn’t tested their mitochondrial DNA so they can see an example of why they should!

myOrigins

I would be fibbing to you if I told you I am happy with myOrigins. I don’t feel that it is as sensitive as other methods for picking up minority admixture, in particular, Native American, especially in small amounts.  Unfortunately, those small amounts are exactly what many people are looking for.

If someone has a great-great-great-great grandparent that is Native, they carry about 1%, more or less, of the Native ancestor’s DNA today. A 4X great grandparent puts their birth year in the range of 1800-1825 – or just before the Trail of Tears.  People whose colonial American families intermarried with Native families did so, generally, before the Trail of Tears.  By that time, many tribes were already culturally extinct and those east of the Mississippi that weren’t extinct were fighting for their lives, both literally and figuratively.

We really need the ability to develop the most sensitive testing to report even the smallest amounts of Native DNA and map those segments to our chromosomes so that we can determine who, and what line in our family, was Native.

I know that Family Tree DNA is looking to improve their products, and I provided this feedback to them. Many people test autosomally only for their ethnicity results and I surely would love to have those people’s results available as matches in the FTDNA data base.

Razib Khan has been working with Family Tree DNA on their myOrigins product and spoke about how the myOrigins data is obtained.

razib kahn

my origins pieces

Given that all humans are related, one way or another, far enough back in time, myOrigins has to be able to differentiate between groups that may not be terribly different. Furthermore, even groups that appear different today may not have been historically.  His own family, from India, has no oral history of coming from the East, but the genetic data clearly indicates that they did, along with a larger group, about 1000 years ago.  This may well be a result of the adage that history is written by the victors, or maybe whatever happened was simply too long ago or unremarkable to be recorded.

Razib mentioned that depending on the cluster and the reference samples, that these clusters and groups that we see on our myOrigins maps can range from 1000-10,000 years in age.

relatedness of clusters

The good news is that genetics is blind to any preconceived notions. The bad news is that the software has to fit your results to the best population, even though it may not be directly a fit.  Hopefully, as we have more and better reference populations, the results will improve as well.

my origin components

pca chart

Razib showed a PCA (principal components analysis) graph, above. These graphs chart reference populations in different quadrants.  Where the different populations overlap is where they share common historic ancestors.  As you can see, on this graph with these reference populations, there is a lot of overlap in some cases, and none in others.

Your personal results would then be plotted on top of the reference populations. The graph below shows me, as the white “target” on a PCA graph created by Doug McDonald.

my pca chart

The Changing Landscape

A topic discussed privately among the group, and primarily among the bloggers, is the changing landscape of genetic genealogy over the past year or so.  In many ways I think the bloggers are the canaries in the mine.

One thing that clearly happened is that the proverbial tipping point occurred, and we’re past it. DNA someplace along the line became mainstream.  Today, DNA is a household word.  At gatherings, at least someone has tested, and most people have heard about DNA testing for genealogy or at least consumer based DNA testing.

The good news in all of this is that more and more people are testing. The bad news is that they are typically less informed and are often impulse purchasers.  This gives us the opportunity for many more matches and to work with new people.  It also means there is a steep learning curve and those new testers often know little about their genealogy.  Those of us in the “public eye,” so to speak, have seen an exponential spike in questions and communications in the past several months.  Unfortunately, many of the new people don’t even attempt to help themselves before asking questions.

Sometimes opportunity comes with work clothes – for them and us both.

I was talking with Spencer about this at the reception and he told me I was stealing his presentation.  He didn’t seem too upset by this:)

spencer and me

I had to laugh, because this falls clearly into the “be careful what you wish for, you may get it” category. The Genographic project through National Geographic is clearly, very clearly, a critical component of the tipping point, and this was reflected in Spencer’s presentation.  Although I covered quite a bit of Spencer’s presentation in my day 2 summary, I want to close with Spencer here.  I also want to say that if you ever have the opportunity to hear Spencer speak, please do yourself the favor and be sure to take that opportunity.  Not only is he brilliant, he’s interesting, likeable and very approachable.  Of course, it probably doesn’t hurt that I’ve know him now for 9 years!  I’ve never thought to have my picture taken with Spencer before, but this time, one of my friends did me the favor.

I have to admit, I love talking to Spencer, and listening to him. He is the adventurer through whom we all live vicariously.  In the photo below, Spencer along with his crew, drove from London to Mongolia.  Not sure why he is standing on the top of the Land Rover, but I’m sure he will tell us in his upcoming book about that journey,

spencer on roof

I’m warning you all now, if I win the lottery, I’m going on the world tour that he hosts with National Geographic, and of course, you’ll all be coming with me via the blog!

Spencer talked about the consumer genomics market and where we are today.

spencer genomics

Spencer mentioned that genetic genealogy was a cottage industry originally. It was, and it was even smaller than that, if possible.  It actually was started by Bennett and his cell phone.  I managed to snap a picture of Bennett this weekend on the stage looking at his cell, and I thought to myself, “this is how it all started 14 years ago.”  Just look where we are today.  Thank you Michael Hammer for telling Bennett that you received “lots of phone calls from crazy genealogists like you.”

bennett first office

So, where exactly are we today?  In 2013, the industry crossed the millionth kit line.  The second millionth kit was sold in early summer 2014 and the third million will be sold in 2015.  No wonder we feel like a tidal wave has hit.  It has.

Why now?

DNA has become part of national consciousness.  Businesses advertise that “it’s in our DNA.”  People are now comfortable sharing via social media like facebook and twitter.  What DNA can do and show you, the secrets it can unlock is spreading by word of mouth.  Spencer termed this the “viral spread threshold” and we’ve crossed that invisible line in the sand.  He terms 2013 as the year of infection and based on my blog postings, subscriptions, hits, reach and the number of e-mails I receive, I would completely agree.  Hold on tight for the ride!

Spencer talked about predictions for near term future and said a 5 year plan is impossible and that an 18 month plan is more realistic. He predicts that we will continue to see exponential growth over the next several years.  He feels that genetic genealogy testing will be primary driver of growth because medical or health testing is subject to the clinical utility trap being experienced currently by 23andMe.  The Big 4 testing companies control 99% of consumer market in US (Ancestry, 23andMe, Family Tree DNA and National Geographic.)

Spencer sees a huge international market potential that is not currently being tapped. I do agree with him, but many in European countries are hesitant, and in some places, like France, DNA testing that might expose paternity is illegal.  When Europeans see DNA testing as a genealogical tool, he feels they will become more interested.  Most Europeans know where their ancestral village is, or they think they do, so it doesn’t have the draw for them that it does for some of us.

Ancestry testing (aka genetic genealogy as opposed to health testing) is now a mature industry with 100% growth rate.

Spencer also mentioned that while the Genographic data base is not open access, that affiliate researchers can send Nat Geo a proposal and thereby gain research access to the data base if their proposal is approved. This extends to citizen scientists as well.

spencer near term

Michael Hammer

You’ll notice that Michael Hammer’s presentation, “Ancient and Modern DNA Update, How Many Ancestral Populations for Europe,” is missing from this wrapup. It was absolutely outstanding, and fascinating, which is why I’m writing a separate article about his presentation in conjunction with some additional information.  So, stay tuned.

Testing, More Testing

It’s becoming quite obvious that the people who are doing the best with genetic genealogy are the ones who are testing the most family members, both close and distant. That provides them with a solid foundation for comparison and better ways to “drop matches” into the right ancestor box.  For example, if someone matches you and your mother’s sister, Aunt Margaret, especially if your mother is not available to test, that’s a very important hint that your match is likely from your mother’s line.

So, in essence, while initially we would advise people to test the oldest person in a generational line, now we’ve moved to the “test everyone” mentality.  Instead of a survey, now we need a census.  The exception might be that the “child” does not necessarily need to be tested because both parents have tested.  However, having said that, I would perhaps not make that child’s test a priority, but I would eventually test that child anyway.  Why?  Because that’s how we learn.  Let me give you an example.

I was sitting at lunch with David Pike. were discussing autosomal DNA generational transmission and inheritance.  He pulled out his iPad, passed it to me, and showed me a chromosome (not the X) that has been passed entirely intact from one generation to the next.  Had the child not been tested, we would never have known that.  Now, of course, if you’ll remember the 50% rule, by statistical prediction, the child should get half of the mother’s chromosome and half of the father’s, but that’s not how it worked.  So, because we don’t know what we don’t know, I’m now testing everyone I can find and convince in my family.  Unfortunately, my family is small.

Full genome testing is in the future, but we’re not ready yet. Several presenters mentioned full genome testing in some context.  Here’s the bottom line.  It’s not truly full genome testing today, only 95-96%.  The technology isn’t there yet, and we’re still learning.  In a couple of years, we will have the entire genome available for testing, and over time, the prices will fall.  Keep in mind that most of our genome is identical to that of all humans, and the autosomal tests today have been developed in order to measure what is different and therefore useful genealogially.  I don’t expect big breakthroughs due to full genome testing for genetic genealogy, although I could be wrong.  You can, however, count me in, because I’m a DNA junkie.  When the full genome test is below $1000, when we have comparison tools and when the coverage won’t necessitate doing a second or upgrade test a few years later, I’ll be there.

Thank you

I want to offer a heartfelt thank you to Max Blankfeld and Bennett Grenspan, founders of Family Tree DNA, shown with me in the photo below, for hosting and subsidizing the administrator’s conference – now for a decade. I look forward to seeing them, and all of the other attendees, next year.

I anticipate that this next decade will see many new discoveries resulting in tools that make our genealogy walls fall.  I can’t help but wonder what the article I’ll be writing on the 20th anniversary looking back at nearly a quarter century of genetic genealogy will say!

roberta, max and bennett

Tenth Annual Family Tree DNA Conference Day 3

The internet in the hotel hasn’t gotten any faster, so I’ll just be providing highlights and today’s new announcements.  More info, plus pictures, when I get home.

Sunday always begins with the ISOGG meeting hosted by Director, Katherine Borges.

This year’s meeting was especially touching, because Max Blankfeld and Bennett Greenspan, founders of Family Tree DNA, received plaques for their 10 years of investment and dedication and as a thank you for hosting the conferences for administrators.

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Much of today’s agenda was focused on research, technical updates and new products and features.

This next year, Family Tree DNA’s focus is on three initiatives:

  1. Customer service and feedback
  2. Features – listen to citizen scientists and group administrators
  3. New products and features to make genetic genealogy better for genealogists

Family Tree DNA is actively soliciting your feedback and has set up a special address for suggestions.  This takes you to a google docs file where you enter your name, e-mail and 1000 characters maximum.

http://www.familytreedna.com/suggestions

Free Ancestry and 23andMe Uploads

In order to attract more uploads, which will, of course, give us more matches, Family Tree DNA is announcing free uploads from Ancestry and 23andMe, the v3 chip only, but with a string attached.  The transferee can do the actual transfer for free, but they will only see their top 20 matches, only an initial and a last name, and will not be able to communicate with them unless they decide to pay $39 to join, or perhaps stated more accurately, to active all of the features of a paid transfer.  However, in lieu of the $39 fee, you can also recruit 4 other people to upload their data, whether or not they actually pay the fee or not.

Search Feature

One of the reasons Family Tree DNA implemented the new trees was so that they could implement new search functionality.  Soon, one will be able to search all public trees.  I think this will benefit the community immensely, because it will allow people to see if people from their family lines are present in the data base, which will, hopefully, encourage testing.

Facilitating Communication

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A new social media function called myGroups is being implemented to facilitate contact within groups.  Today, projects and outside mailing lists and groups don’t fully overlap.

The example shown correlated to about 25% of a project group that was subscribed to an outside Yahoo group for discussion.  MyGroups is designed to facilitate discussions that include all project members.

Furthermore, Ancestry’s My Family product became obsolete on September 30th, leaving many people with no place to discuss family lines and groups and share pictures and documents.   The new myGroups is designed to replace some of that functionality within the context of a project.  A project could be defined as an ancestral couple, for example or a surname project, or a haplogroup project.  Of course, the discussions would be quite different for each type of myGroup.  They are ready to launch this in an alpha state and if someone is excited about this and wants to volunteer, and can deal with a few bugs…then please drop Family Tree DNA a note.

News in the Field

We had many wonderful presentations, but my personal favorite was by Michael Hammer.

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I can’t begin to do this topic justice without a real keyboard and a decent internet connection so I can upload lots of pictures.  We now have 18 fully genome sequenced ancient DNA samples, which is, admittedly, just a smattering.  However, if they are representative of the hunter-gatherer (Paleolithic) and early farmer (Neolithic) populations, then what we thought we knew about Y haplogroup R, J and others has just been turned upside down.  And then, there is the teaser, like what is haplogroup C doing in Spain???

Oh, and want to know how much of your European DNA is ancestrally neolithic, hunter-gatherer, ancient northern european or later from the metallic age?  That’s one of the features Family Tree DNA was asked about and I believe they said that was something they could probably do. I’m not positive if that means they will implement that feature, but I do know they’ll evaluate how difficult and accurate this would be to implement.

Join me in a few days, after I get home, when I promise, I’ll do Michael’s presentation justice.  I’m so excited about ancient DNA and the secrets it’s unlocking!!!

Fun times ahead!