Finding Native American Ethnic Results in Germanic People

Posted on May 21, 2014 by Roberta Estes

I’m often asked about the significance of small percentages of autosomal DNA in results. Specifically, the small percentages are often of Native American or results that would suggest Native admixture. One of the first questions I always ask is whether or not the individual has Germanic or eastern European admixture.

Why?

Take a look at this map of the Invasion of the Roman Empire. See the Huns and their path?

It’s no wonder we’re so admixed.

Here’s a map of the Hunnic empire at its peak under Attila between the years 420-469.

But that wasn’t the end of the Asian invasions. The Magyars, who settled in Hungary arrived from Asia as well, in the 800s and 900s, as shown on this map from LaSalle University.

Since both the Hungarians and some Germanic people descend from Asian populations, as do Native Americans, albeit thousands of years apart, it’s not unrealistic to expect that, as populations, they share a genetic connection.

Therefore, when people who carry heritage from this region of the world show small amounts of Native or Asian origin, I’m not surprised. However, for Americans, trying to sort out their Native ethnic heritage, this is most unhelpful.

Let’s take a look at the perfect example candidate. This man is exactly half Hungarian and half German. Let’s see what his DNA results say, relative to any Asian or Native heritage, utilizing the testing companies and the free admixture tools at www.gedmatch.com.

He has not tested at Ancestry, but at Family Tree DNA, his myOrigins report 96% European, 4% Middle Eastern. At 23andMe in speculative view, he shows 99.7 European and .2 sub-saharan African.

Moving to the admixture tools at GedMatch, MDLP is not recommended for Asian or Native ancestry, so I have excluded that tool.

Eurogenes K13 is the most recently updated admixture tool, so let’s take a look at that one first.

Eurogenes K13

Eurogenes K13 showed 7% West Asian, which makes perfect sense considering his heritage, but it might be counted as “Native” in other circumstances, although I would certainly be very skeptical about counting it as such.

However, East Asian, Siberian and Amerindian would all be amalgamated into the Native American category, for a combined percentage of 1.31.

However, selecting the “admixture proportions by chromosome” view shows something a bit different. The cumulative percentages, by chromosome equate to 10.10%. Some researchers mistakenly add this amount and use that as their percentage of Native ancestry. This is not the case, because those are the portions of 100% of each individual chromosome, and the total would need to be divided by 22 to obtain the average value across all chromosomes. The total is irrelevant, and the average may not reflect how the developer determines the amount of admixture because chromosomes are not the same size nor carry the same number of SNPs. Questions relative to the functional underpinnings of each tool should be addressed to the developers.

Dodecad

I understand that there is a newer version of Dodecad, but that it has not been submitted to GedMatch for inclusion, per a discussion with GedMatch. I can’t tell which of the Dodecad versions on GedMatch is the most current, so I ran the results utilizing both v3 and 12b.

I hope v3 is not the most current, because it does not include any Native American category or pseudocategory – although there is a smattering of Northeast Asian at .27% and Southwest Asian at 1%.

Dodecad 12b below

The 12b version does show .52% Siberian and 2.6% Southwest Asian, although I’m not at all sure the Southwest Asian should be included.

HarappaWorld

Harappaworld shows .09 Siberian, .27% American (Native American), .23% Beringian and 1.8% Southwest Asian, although I would not include Southwest Asian in the Native calculation.

In Summary

Neither Family Tree DNA nor 23andMe find Native ancestry in our German/Hungarian tester, but all 3 of the admixture tools at Gedmatch find either small amounts of Native or Asian ancestry that could certainly be interpreted as Native, such as Siberian or Beringian.

Does this mean this German/Hungarian man has Native American ancestry? Of course not, but it does probably mean that the Native population and his ancestral populations did share some genes from the same gene pool thousands of years ago.

While you might think this is improbable, or impossible, consider for a minute that every person outside of Africa today carries some percentage of Neanderthal DNA, and all Europeans also carry Denisovan DNA. Our DNA does indeed have staying power over the millennia, especially once an entire population or group of people is involved. We’ve recently seen this same type of scenarios in the full genome sequencing of a 24,000 year old Siberian male skeleton.

Our German/Hungarian man carries 2.4% Neanderthal DNA according to 23andMe and 2.7% according to the Genographic Project, which also reports that he carries 3.9% Denisovan. The European average is about 2% for Neanderthal.

The net-net of this is that minority admixture is not always what it seems to be, especially when utilizing autosomal DNA to detect small amounts of Native American admixture. The big picture needs to be taken into consideration. Caution is advised.

When searching for Native admixture, when possible, both Y DNA and mitochondrial DNA give specific answers for specific pedigree lines relative to ancestry. Of course, to utilize Y or mtDNA, the tester must descend from the Native ancestor either directly paternally to test the male Y chromosome, or directly matrilineally to test the mitochondrial line. You can read about this type of testing, and how it works, in my article, Proving Native American Ancestry Using DNA. You can also read about other ways to prove Native ancestry using autosomal DNA, including how to unravel which pedigree line the Native ancestry descends from, utilizing admixture tools, in the article, “The Autosomal Me.”

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Ethnicity Percentages – Second Generation Report Card

Posted on May 19, 2014 by Roberta Estes

Recently, Family Tree DNA introduced their new ethnicity tool, myOrigins as part of their autosomal Family Finder product. This means that all of the major players in this arena using chip based technology (except for the Genographic project) have now updated their tools. Both 23andMe and Ancestry introduced updated versions of their tools in the fall of 2013. In essence, this is the second generation of these biogeographical or ethnicity products. So lets take a look and see how the vendors are doing.

In a recent article, I discussed the process for determining ethnicity percentages using biogeographical ancestry, or BGA, tools. The process is pretty much the same, regardless of which vendor’s results you are looking at. The variant is, of course, the underlying population data base, it’s quality and quantity, and the way the vendors choose to construct and name their regions.

I’ve been comparing my own known and proven genealogy pedigree breakdown to the vendors results for some time now. Let’s see how the new versions stack up to a known pedigree.

The paper, Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X Chromosomal Testing Data Combined with Pedigree Analysis was published in the Fall 2010 issue of JoGG, Vol. 6 issue 1.

The pedigree analysis portion of this document begins about page 8. My ancestral breakdown is as follows:

Geography	Pedigree Percent
Germany	23.8041
British Isles	22.6104
Holland	14.5511
European by DNA	6.8362
France	6.6113
Switzerland	0.7813
Native American	0.2933
Turkish	0.0031

This leaves about 25% unknown.

Let’s look at each vendor’s results one by one.

23andMe

My results using the speculative comparison mode at 23andMe are shown in a chart, below.

23andMe Category	23andMe Percentage
British and Irish	39.2
French/German	15.6
Scandinavian	7.9
Nonspecific North European	27.9
Italian	0.5
Nonspecific South European	1.6
Eastern European	1.8
Nonspecific European	4.9
Native American	0.3
Nonspecific East Asian/Native American	0.1
Middle East/North Africa	0.1

At 23andMe, if you have questions about what exact population makes up each category, just click on the arrow beside the category when you hover over it.

For example, I wasn’t sure exactly what comprises Eastern European, so I clicked.

The first thing I see is sample size and where the samples come from, public data bases or the 23andMe data base. Their samples, across all categories, are most prevalently from their own data base. A rough add shows about 14,000 samples in total.

Clicking on “show details” provides me with the following information about the specific locations of included populations.

Using this information, and reorganizing my results a bit, the chart below shows the comparison between my pedigree chart and the 23andMe results. In cases where the vendor’s categories spanned several of mine, I have added mine together to match the vendor category. A perfect example is shown in row 1, below, where I added France, Holland, Germany and Switzerland together to equal the 23andMe French and German category. Checking their reference populations shows that all 4 of these countries are included in their French and German group.

Geography	Pedigree Percent	23andMe %
Germany, Holland, Switzerland & France	45.7451	15.6
France	6.6113 (above)	Combined
Germany	23.8014 (above)	Combined
Holland	14.5511 (above)	Combined
Switzerland	0.7813 (above)	Combined
British Isles	22.6104	39.2
Native American	0.2933	0.4 (Native/East Asian)
Turkish	0.0031	0.1 (Middle East/North Africa)
Scandinavian		7.9
Italian		0.5
South European		1.6
East European		1.8
European by DNA	6.8362	4.9 (nonspecific European)
Unknown	25	27.9 (North European)

I can also change to the Chromosome view to see the results mapped onto my chromosomes.

The 23andMe Reference Population

According to the 23andMe customer care pages, “Ancestry Composition uses 31 reference populations, based on public reference datasets as well as a significant number of 23andMe members with known ancestry. The public reference datasets we’ve drawn from include the Human Genome Diversity Project, HapMap, and the 1000 Genomes project. For these datasets as well as the data from 23andMe, we perform filtering to ensure accuracy.

Populations are selected for Ancestry Composition by studying the cluster plots of the reference individuals, choosing candidate populations that appear to cluster together, and then evaluating whether we can distinguish the groups in practice. The population labels refer to genetically similar groups, rather than nationalities.”

Additional detailed information about Ancestry Composition is available here.

Ancestry.com

Ancestry is a bit more difficult to categorize, because their map regions are vastly overlapping. For example, the west Europe category is shown above, and the Scandinavian is shown below.

Both categories cover the Netherlands, Germany and part of the UK.

My Ancestry percentages are:

Ancestry Category	Ancestry Percentage
North Africa	1
America	<1
East Asia	<1
West Europe	79
Scandinavia	10
Great Britain	4
Ireland	2
Italy/Greece	2

Below, my pedigree percentages as compared to Ancestry’s categories, with category adjustments.

Geography	Pedigree Percent	Ancestry %
West European	52.584 (combined from below)	79
Germany	23.8041	Combined
Holland	14.5511	Combined
European by DNA	6.8362	Combined
France	6.6113	Combined
Switzerland	0.7813	Combined
British Isles	22.6104	6
Native American	0.2933	~1 incl East Asian
Turkish	0.0031	1 (North Africa)
Unknown	25
Italy/Greece		2
Scandinavian		10

Ancestry’s European populations and regions are so broadly overlapping that almost any interpretation is possible. For example, the Netherlands could be included in several categories – and based up on the history of the country, that’s probably legitimate.

At Ancestry, clicking on a region, then scrolling down will provide additional information about that region of the world, both their population and history.

The Ancestry Reference Population

Just below your ethnicity map is a section titled “Get the Most Out of Your Ethnicity Estimate.” It’s worth clicking, reading and watching the video. Ancestry states that they utilized about 3000 reference samples, pared from 4245 samples taken from people whose ethnicity seems to be entirely from that specific location in the world.

You can read more in their white paper about ethnicity prediction.

Family Tree DNA’s myOrigins

I wrote about the release of my Origins recently, so I won’t repeat the information about reference populations and such found in that article.

Family Tree DNA shows matches by region. Clicking on the major regions, European and Middle Eastern, shown above, display the clusters within regions. In addition, your Family Finder matches that match your ethnicity are shown in highest match order in the bottom left corner of your match page.

Clicking on a particular cluster, such as Trans-Ural Peneplain, highlights that cluster on the map and then shows a description in the lower left hand corner of the page.

Family Tree DNA shows my ethnicity results as follows.

Family Tree DNA Category	Family Tree DNA Percentage
European Coastal Plain	68
European Northlands	12
Trans-Ural Peneplain	11
European Coastal Islands	7
Anatolia and Caucus	3

Below, my pedigree results reorganized a bit and compared to Family Tree DNA’s categories.

Geography	Pedigree Percent	Family Tree DNA %
European Coastal Plain	45.7478	68
Germany	23.8041	Combined above
Holland	14.5511	Combined above
France	6.6113	Combined above
Switzerland	0.7813	Combined above
British Isles	22.6104	7 (Coastal Islands)
Turkish	0.0031	3 (Anatolia and Caucus)
European by DNA	6.8362
Native American	0.2933
Unknown	25
Trans-Ural Peneplain		11
European Northlands		12

Third Party Admixture Tools

www.GedMatch.com is kind enough to include 4 different admixture utilities, contributed by different developers, in their toolbox. Remember, GedMatch is a free, meaning a contribution site – so if you utilize and enjoy their tools – please contribute.

On their main page, after signing in and transferring your raw data files from either 23andMe, Family Tree DNA or Ancestry, you will see your list of options. Among them is “admixture.” Click there.

Of the 4 tools shown, MDLP is not recommended for populations outside of Europe, such as Asian, African or Native American, so I’ve skipped that one entirely.

I selected Admixture Proportions for the part of this exercise that includes the pie chart.

The next option is Eurogenes K13 Admixture Proportions. My results are shown below.

Eurogenes K13

Of course, there is no guide in terms of label definition, so we’re guessing a bit.

Geography	Pedigree Percent	Eurogenes K13%
North Atlantic	75.19	44.16
Germany	23.8041	Combined above
British Isles	22.6104	Combined above
Holland	14.5511	Combined above
European by DNA	6.8362	Combined above
France	6.6113	Combined above
Switzerland	0.7813	Combined above
Native American	0.2933	2.74 combined East Asian, Siberian, Amerindian and South Asian
Turkish	0.0031	1.78 Red Sea
Unknown	25
Baltic		24.36
West Med		14.78
West Asian		6.85
Oceanian		0.86

Dodecad K12b

Next is Dodecad K12b

According to John at GedMatch, there is a more current version of Dodecad, but the developer has opted not to contribute the current or future versions.

By the way, in case you’re wondering, Gedrosia is an area along the Indian Ocean – I had to look it up!

Geography	Pedigree Percent	Dodecad K12b
North European	75.19	43.50
Germany	23.8041	Combined above
British Isles	22.6104	Combined above
Holland	14.5511	Combined above
European by DNA	6.8362	Combined above
France	6.6113	Combined above
Switzerland	0.7813	Combined above
Native American	0.2933	3.02 Siberian, South Asia, SW Asia, East Asia
Turkish	0.0031	10.93 Caucus
Gedrosia		7.75
Northwest African		1.22
Atlantic Med		33.56
Unknown	25

Third is Harappaworld.

Harappaworld

Baloch is an area in the Iranian plateau.

Geography	Pedigree Percent	Harappaworld %
Northeast Euro	75.19	46.58
Germany	23.8041	Combined above
British Isles	22.6104	Combined above
Holland	14.5511	Combined above
European by DNA	6.8362	Combined above
France	6.6113	Combined above
Switzerland	0.7813	Combined above
Native American	0.2933	2.81 SE Asia, Siberia, NE Asian, American, Beringian
Turkish	0.0031	10.27
Unknown	25
S Indian		0.21
Baloch		9.05
Papuan		0.38
Mediterranean		28.71

The wide variety found in these results makes me curious about how my European results would be categorized using the MDLP tool, understanding that it will not pick up Native, Asian or African.

MDLP K12

The Celto-Germanic category is very close to my mainland European total – but of course, many Germanic people settled in the British Isles.

Second Generation Report Card

Many of these tools picked up my Native American heritage, along with the African. Yes, these are very small amounts, but I do have several proven lines. By proven, I mean both by paper trail (Acadian church and other records) and genetics, meaning Yline and mtDNA. There is no arguing with that combination. I also have other Native lines that are less well proven. So I’m very glad to see the improvements in that area.

Recent developments in historical research and my mitochondrial DNA matches show that my most distant maternal ancestral line in Germany have some type of a Scandinavian connection. How did this happen, and when? I just don’t know yet – but looking at the map below, which are my mtDNA full sequence matches, the pattern is clear.

Could the gene flow have potentially gone the other direction – from Germany to Scandinavia? Yes, it’s possible. But my relatively consistent Scandinavian ethnicity at around 10% seems unlikely if that were the case.

Actually, there is a second possibility for additional Scandinavian heritage and that’s my heavy Frisian heritage. In fact, most of my Dutch ancestors in Frisia were either on or very near the coast on the northernmost part of Holland and many were merchants.

I also have additional autosomal matches with people from Scandinavia – not huge matches – but matches just the same – all unexplained. The most notable of which, and the first I might add, is with my friend, Marja.

It’s extremely difficult to determine how distant the ancestry is that these tests are picking up. It could be anyplace from a generation ago to hundreds of generations ago. It all depends on how the DNA was passed, how isolated the population was, who tested today and which data bases are being utilized for comparison purposes along with their size and accuracy. In most cases, even though the vendors are being quite transparent, we still don’t know exactly who the population is that we match, or how representative it is of the entire population of that region. In some cases, when contributed data is being used, like testers at 23andMe, we don’t know if they understood or answered the questions about their ancestry correctly – and 23andMe is basing ethnicity results on their cumulative answers. In other words, we can’t see beneath the blanket – and even if we could – I don’t know that we’d understand how to interpret the components.

So Where Am I With This?

I knew already, through confirmed paper sources that most of my ancestry is in the European heartland – Germany, Holland, France as well as in the British Isles. Most of the companies and tools confirm this one way or another. That’s not a surprise. My 35 years of genealogical research has given me an extremely strong pedigree baseline that is invaluable for comparing vendor ethnicity results.

The Scandinavian results were somewhat of a surprise – especially at the level in which they are found. If this is accurate, and I tend to believe it is present at some level, then it must be a combined effect of many ancestors, because I have no missing or unknown ancestors in the first 5 generations and only 11 of 64 missing or without a surname in generation 6. Those missing ancestors in generation 6 only contribute about 1.5% of my DNA each, assuming they contribute an average of 50% of their DNA to offspring in each subsequent generation.

Clearly, to reach 10%, nearly all of my missing ancestors, in the US and Germany, England and the Netherlands would have to be 100% Scandinavian – or, alternately, I have quite a bit scattered around in many ancestors, which is a more likely scenario. Still, I’m having a difficult time with that 10% number in any scenario, but I will accept that there is some Scandinavian heritage one way or another. Finding it, however, genealogically is quite another matter.

However, I’m at a total loss as to the genesis of the South European and Mediterranean. This must be quite ancient. There are only two known possible ancestors from these regions and they are many generations back in time – and both are only inferred with clearly enough room to be disproven. One is a possible Jewish family who went to France from Spain in 1492 and the other is possibly a Roman soldier whose descendants are found within a few miles of a Roman fort site today in Lancashire. Neither of these ancestors could have contributed enough DNA to influence the outcome to the levels shown, so the South European/Mediterranean is either incorrect, or very deep ancestry.

The Eastern European makes more sense, given my amount of German heritage. The Germans are well known to be admixed with the Magyars and Huns, so while I can’t track it or prove it, it also doesn’t surprise me one bit given the history of the people and regions where my ancestors are found.

What’s the Net-Net of This?

This is interesting, very interesting. There are tips and clues buried here, especially when all of the various tools, including autosomal matching, Y and mtDNA, are utilized together for a larger picture. Alone, none of these tools are as powerful as they are combined.

I look forward to the day when the reference populations are in the tens of thousands, not hundreds. All of the tools will be far more accurate as the data base is built, refined and utilized.

Until then, I’ll continue to follow each release and watch for more tips and clues – and will compare the various tools. For example, I’m very pleased to see Family Tree DNA’s new ethnicity matching tool incorporated into myOrigins.

I’ve taken the basic approach that my proven pedigree chart is the most accurate, by far, followed by the general consensus of the combined results of all of the vendors. It’s particularly relevant when vendors who don’t use the same reference populations arrive at the same or similar results. For example, 23andMe uses primarily their own clients and Nat Geo of course, although I did not include them above because they haven’t released a new tool recently, uses their own population sample results.

National Geographic’s Geno2

Nat Geo took a bit of a different approach and it’s more difficult to compare to the others. They showed my ethnicity as 43% North European, 36% Mediterranean and 18% Southwest Asian.

While this initially looks very skewed, they then compared me to my two closest populations, genetically, which were the British and the Germans, which is absolutely correct, according to my pedigree chart. Both of these populations are within a few percent of my exact same ethnicity profile, shown below.

The description makes a lot of sense too. “The dominant 49% European component likely reflects the earliest settlers in Europe, hunter-gatherers who arrived there more than 35,000 years ago. The 44% Mediterranean and the 17% Southwest Asian percentages arrived later, with the spread of agriculture from the Fertile Crescent in the middle East, over the past 10,000 years. As these early farmers moved into Europe, they spread their genetic patterns as well.”

So while individually, and compared to my pedigree chart, these results appear questionable, especially the Mediterranean and Southwest Asian portions, in the context of the populations I know I descend from and most resemble, the results make perfect sense when compared to my closest matching populations. Those populations themselves include a significant amount of both Mediterranean and Southwest Asian. Looking at this, I feel a lot better about the accuracy of my results. Sometimes, perspective makes a world of difference.

It’s A Wrap

Just because we can’t exactly map the ethnicity results to our pedigree charts today doesn’t mean the results are entirely incorrect. It doesn’t mean they are entirely correct, either. The results may, in some cases, be showing where population groups descend from, not where our specific ancestors are found more recently. The more ancestors we have from a particular region, the more that region’s profile will show up in our own personal results. This explains why Mediterranean shows up, for example, from long ago but our one Native ancestor from 7 or 8 generations ago doesn’t. In my case, it would be because I have many British/German/Dutch lines that combine to show the ancient Mediterranean ancestry of these groups – where I have many fewer Native ancestors.

Vendors may be picking up deep ancestry that we can’t possible know about today – population migration. It’s not like our ancestors left a guidebook of their travels for us – at least – not outside of our DNA – and we, as a community, are still learning exactly how to read that! We are, after all, participants on the pioneering, leading edge of science.

Having said that, I’ll personally feel a lot better about these kinds of results when the underlying technology, data bases and different vendors’ tools mature to the point where there the differences between their results are minor.

For today, these are extremely interesting tools, just don’t try to overanalyze the results, especially if you’re looking for minority admixture. And if you don’t like your results, try a different vendor or tool, you’ll get an entirely new set to ponder!

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Stories about Surname Origins

Posted on May 18, 2014 by Roberta Estes

How many of us have seen stories about the purported origin of our family surname? Until now, I never thought about DNA perhaps holding the answer to whether these origin stories might be accurate – but in the case of Campbell, it seems DNA might provide a clue if not an answer.

Ron, on my blog, posted the following query:

“There was a story about Campbells I read in Reader’s Digest probably 40 years ago. They said a Medieval family named Fairfield fell out of favor with English royalty. Many fled the country and translated their name to the native language. Those who went to France became “Beau Champ” while those who fled to Italy became “Campo Bello”, each meaning “Fair Field.”

Some years later they were allowed back home where they Anglicized their names. Beau Champs became “Beachams” and Campo Bellos became Campbells. Now the Fairfields, the Beau Champs, the Campo Bellos, the Beachams, and the Campbells are all related. Hmmm. I wonder if that story is true?”

I had seen these stories myself, years ago, but I had entirely forgotten about them. Thanks Ron, for jogging my memory.

From this oral history, it looks like Campbell should also match these or similar surnames:

Beacham
Fairfield
Beauchamp
Campo Bellos

The first thing I’ll do is to check my own family lines of Y DNA. My Campbell lines match that of the Campbell clan from Inverary, so if this is a true story, the Inverary line should match at least some of these surnames.

At 12 markers, where the most matches would be found there are no matches to any of these surnames. There were also none at higher match levels. While this doesn’t entirely disprove the story, it certainly doesn’t lend any credibility to it either.

Do you have any surname stories in your family that DNA could help to prove or disprove? Even if you don’t have someone to test, you might discover that your line has already been tested by checking the surname projects at Family Tree DNA or by checking by surname at www.ysearch.com.

______________________________________________________________

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Family Tree DNA Releases myOrigins

Posted on May 11, 2014 by Roberta Estes

On May 6th, Family Tree DNA released myOrigins as a free feature of their Family Finder autosomal DNA test. This autosomal biogeographic feature was previously called Population Finder. It has not just been renamed, but entirely reworked.

Currently, 22 population clusters in 7 major geographic groups are utilized to evaluate your biogeographic ethnicity or ancestry as compared to these groups, many of which are quite ancient.

Primary Population Clusters

Anatolia & Caucasus
Asian Northeast
Bering Expansion
East Africa Pastoralist
East Asian Coastal Islands
Eastern Afroasiatic
Eurasian Heartland
European Coastal Islands
European Coastal Plain
European Northlands
Indian Tectonic
Jewish Diaspora
Kalahari Basin
Niger-Congo Genesis
North African Coastlands
North Circumpolar
North Mediterranean
Trans-Ural Peneplain

Blended Population Clusters

Coastal Islands & Central Plain
Northlands & Coastal Plain
North Mediterranean & Coastal Plain
Trans-Euro Peneplain & Coastal Plain

Each of these groups has an explanation which can be found here.

Matching

Prior to release, Family Tree DNA sent out a notification about new matching options. One of the new features is that you will be able to see the matching regions of the people you match – meaning your populations in common. This powerful feature lets you see matches who are similar which can be extremely useful when searching for minority admixture, for example. However, some participants don’t want their matches to be able to see their ethnicity, so everyone was given an ‘opt out’ option. Fortunately, few people have opted out, less than 1%.

Be aware that only your primary matches are shown. This means that your 4-5^th cousins or more distant are not shown as ethnicity matches.

Here’s what the FTDNA notification said:

With myOrigins, you’ll be able compare your ethnicity with your Family Finder matches. If you want to share your ethnic origins with your matches, you don’t need to take any action. You’ll automatically be able to compare your ethnicity with your matches when myOrigins becomes available. This is the recommended option. However, we do understand that sharing your ethnicity with your matches is your choice so we’re sending you this reminder in case you want to not take part (opt-out). To opt-out, please follow the instructions below. *

Click this link.
If you are not logged in, do so.
Select the “Do not share my ethnic breakdown with my matches. This will not let me compare my ethnicity with my matches.” radio button.
Click the Save button.

You can get more details about what will be shared here. You may also join our forums for discussion. * You can change your privacy settings at any time. Thus, you may opt-out of or opt back into ethnic sharing at a later date if you change your mind.

What’s New?

Let’s take a look at the My Origins results. You can see your results by clicking on “My Origins” on the Family Finder tab on your personal page at Family Tree DNA.

Ethnicity and Matches

Your population ethnicity is shown on the main page, as well as up to three shared regions that you share with your matches. This means that if you share more than 3 regions with these people, the 4^th one (or 5^th or 6^th, etc.) won’t show. This also means that if your match has an ethnicity you don’t have, that won’t show either.

Above, you see my main results page. Please note that this map is what is known as a heat map. This means that the darkest, or hottest, areas are where my highest percentages are found.

Each region has a breakdown that can be seen by clicking on the region bar. My European region bar population cluster breakdown is shown below along with my ethnicity match to my mother.

And my Middle Eastern breakdown is shown below.

Ethnicity Mapping

A great new feature is the mapping of the maternal and paternal ethnicity of your Family Finder matches, when known. How does Family Tree DNA know? The location data entered in the “Matches Map” location field. Can’t remember if you completed these fields? It’s easy to take a look and see. On either the Y DNA or the mtDNA tabs, click on Matches Map and you’ll see your white balloon. If the white balloon is in the location of your most distant ancestor in your paternal line (for Y) or your matrilineal line for mtDNA (your mother’s mother’s mother’s line on up the tree until you run out of mothers), then you’ve entered the location data and you’re good to go. If your white balloon is on the equator, click on the tab at the bottom of the map that says “update ancestor’s location” and step through the questions.

If you haven’t completed this information, please do. It makes the experience much more robust for everyone.

How Does This Tool Work?

The buttons to the far right of the page show the mapped locations of the oldest paternal lines and the oldest matrilineal (mtDNA) lines of your matches. Direct paternal matches would of course be surname matches, but only to their direct paternal lines. This does not take into account all of their “most distant ancestors,” just the direct paternal ones. This is the yellow button.

The green button provides the direct maternal matches.

Do not confuse this with your Matches Map for your own paternal (if you’re a male) or mitochondrial matches. Just to illustrate the difference, here is my own direct maternal full sequence matches map, available on my mtDNA tab. As you can see, they are very different and convey very different information for you.

Comparisons

By way of comparison, here are my mother’s myOrigins results.

Let’s say I want to see who else matches her from Germany where our most distant mitochondrial DNA ancestor is located.

I can expand the map by scrolling or using the + and – keys, and click on any of the balloons.

Indeed, here is my balloon, right where it should be, and the 97% European match to my mother pops up right beside my balloon. The matches are not broken down beyond region.

This is full screen, so just hit the back button or the link in the upper right hand corner that says “back to FTDNA” to return to your personal page.

Walk Through

Family Tree DNA has provided a walk-through of the new features.

Methodology

How did Family Tree DNA come up with these new regional and population cluster matches?

As we know, all of humanity came originally from Africa, and all of humanity that settled outside of Africa came through the Middle East. People left the Middle East in groups, it would appear, and lived as isolated populations for some time in different parts of the world. As they did, they developed mutations that are found only in that region, or are found much more frequently in that region as opposed to elsewhere. Patterns of mutations like this are established, and when one of us matches those patterns, it’s determined that we have ancestry, either recent or perhaps ancient, from that region of the world.

The key to this puzzle is to find enough differentiation to be able to isolate or identify one group from another. Of course, the groups eventually interbred, at least most of them did, which makes this even more challenging.

Family Tree DNA says in their paper describing the population clusters:

MyOrigins attempts to reduce the wild complexity of your genealogy to the major historical-genetic themes which arc through the life of our species since its emergence 100,000 years ago on the plains of Africa. Each of our 22 clusters describe a vivid and critical color on the palette from which history has drawn the brushstrokes which form the complexity that is your own genome. Though we are all different and distinct, we are also drawn from the same fundamental elements.

The explanatory narratives in myOrigins attempt to shed some detailed light upon each of the threads which we have highlighted in your genetic code. Though the discrete elements are common to all humans, the weight you give to each element is unique to you. Each individual therefore receives a narrative fabric tailored to their own personal history, a story stitched together from bits of DNA.

They have also provided a white paper about their methodology that provides more information.

After reading both of these documents, I much prefer the explanations provided for each cluster in the white paper over the shorter population cluster paper. The longer version breaks the history down into relevant pieces and describes the earliest history and migrations of the various groups.

I was pleased to see the methodology that they used and that four different reference data bases were utilized.

GeneByGene DNA customer database
Human Genome Diversity Project
International HapMap Project
Estonian Biocentre

Given this wealth of resources, I was very surprised to see how few members of some references populations were utilized.

Population	N	Population	N
Armenian	46	Lithuanian	6
Ashkenazi	60	Masai	140
British	39	Mbuti	15
Burmese	8	Moroccan	7
Cambodian	26	Mozabite	24
Danish	13	Norwegian	17
Filipino	20	Pashtun	33
Finnish	49	Polish	35
French	17	Portuguese	25
German	17	Russian	41
Gujarati	31	Saudi	19
Iraqi	12	Scottish	43
Irish	45	Slovakian	12
Italian	30	Spanish	124
Japanese	147	Surui	21
Karitiana	23	Swedish	33
Korean	15	Ukrainian	10
Kuwaiti	14	Yoruba	136

In particular, the areas of France, Germany, Norway, Slovakia, Denmark and the Ukraine appear to be very under-represented, especially given Family Tree DNA’s very heavy European-origin customer base . I would hope that one of the priorities would be to expand this reference data base substantially. Furthermore, I don’t see any New World references included here which calls into question Native American ancestry.

Webinar

Family Tree DNA typically provides a webinar for new products as well as general education. The myOrigins webinar can be found in the archives at this link. It can be viewed any time. https://www.familytreedna.com/learn/ftdna/webinars/

Accuracy

How did they do? Certainly, Family Tree DNA has a great new interface with wonderful new maps and comparison features. Let’s take a look at accuracy and see if everything makes sense.

I am fortunate to have the DNA of one of my parents, my mother. In the chart below, I’m comparing that result and inferring my father’s results by subtracting mine from my mother’s. This may not be entirely accurate, because this presumes I received the full amount of that ethnicity from my mother, and that is probably not accurate – but – it’s the best I can do under the circumstances. It’s safe to say that my father has a minimum of this amount of that particular population category and may have more.

Region	Me	Mom	Dad Inferred Minimum
European Coastal Plain	68	17	51
European Northlands	12	7	5
Trans Ural Peneplain	11	10	1
European Coastal Islands	7	34	0
Anatolia and Caucus	3	0	3
North Mediterranean	0	34	0
Circumpolar	0	1	0
Undetermined*	0	0	40

*The Undetermined category is not from Family Tree DNA, but is the percentage of my father not accounted for by inference. This 40% is DNA that I did not inherit if it falls into a different category.

Based on these results alone, I have the following observations.

1. I find it odd that my mother has 34% North Mediterranean and I have none. We have no known ancestry from this region.
2. My mother does have one distant line of Turkish DNA via France. I have presumed that my Middle Eastern (now Anatolia and Caucus) was through that line, but these results suggest otherwise.
3. My mother’s Circumpolar may be Native American. She does have proven Native lines (Micmac) through the Acadian families.
4. These results have missed both my Native lines (through both parents) and my African admixture although both are small percentages.
5. The European Coastal Plain is one of the groups that covers nearly all of Europe. Given that my mother is 3/4^th Dutch/German, with the balance being Acadian, Native and English, one would expect her to have significantly more, especially given my high percentage.
6. The European Coastal Island percentages are very different for me and my mother, with me carrying much less than my mother. This is curious, because she is 3/4th German/Dutch with between 1/8th and 3/16th English while my father’s lines are heavily UK. My father’s ancestry may well be reflected in European Coastal Plain which covers a great deal of territory.

What We Need to Remember

All of the biogeographic tools, from Family Tree DNA, 23andMe and Ancestry, are “estimates” and each of the tools from the three major vendors rend different results. Each one is using different combinations of reference populations, so this really isn’t surprising. Hopefully, as the various companies increase their population references and the size of their reference data bases, the results will increasingly mesh from company to company. These results are only as good as the back end tools and the DNA that you randomly inherited from your ancestors.

Furthermore, we all carry far more similar DNA than different DNA, so it’s extremely difficult to make judgment calls based on ranges. Europe, for example, is extremely admixed and the US is moreso. The British Isles were a destination location for many groups over thousands of years. Some of the DNA being picked up by these tests may indeed be very ancient and may cause us to wonder where it came from. In future test versions, this may be more perfectly refined.

There is no way to gauge “ancient” DNA, like from the Middle East Diaspora, from more contemporary DNA, only a thousand years or so old, once it’s in very small segments. In other words, it’s all very individual and personal and pretty much cast in warm jello. We’ve come a long way, but we aren’t “there” yet. However, without these tools and the vendors working to make them better, we’ll never get “there,” so keep that in mind.

While this makes great conversation today, and there is no question about accuracy in terms of majority ancestry/ethnicity, no one should make any sweeping conclusions based on this information. This is not “cast in concrete” in the same way as Y DNA and mitochondrial haplogroups and STR markers. Those are irrefutable – while biogeographical ethnicity remains a bit ethereal.

In summary, I would simply say that this tool can provide great hints and tips, especially the matching, which is unique, but it can’t disprove anything. The absence of minority admixture, which is what so many people are hunting for, may be the result of the various data bases and the infancy of the science itself, and not the absence of admixture.

My recommendation would be to utilize all three biogeographic admixture products as well as the free tools in the Admixture category at GedMatch. Look for consistency in results between the tools. I discussed this methodology in “The Autosomal Me” series.

What Next?

I asked Dr. David Mittelman, Chief Scientific Officer, at Family Tree DNA about the reference populations. He indicated that he agreed that some of their reference populations are small and they are actively working to increase them. He also stated that it is important to note that Family Tree DNA prioritized accuracy over false positives so they definitely took a conservative approach.

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Haplogroup Comparisons Between Family Tree DNA and 23andMe

Posted on March 24, 2014 by Roberta Estes

Recently, I’ve received a number of questions about comparing people and haplogroups between 23andMe and Family Tree DNA. I can tell by the questions that a significant amount of confusion exists about the two, so I’d like to talk about both. In you need a review of “What is a Haplogroup?”, click here.

Haplogroup information and comparisons between Family Tree DNA information and that at 23andMe is not apples and apples. In essence, the haplogroups are not calculated in the same way, and the data at Family Tree DNA is much more extensive. Understanding the differences is key to comparing and understanding results. Unfortunately, I think a lot of misinterpretation is happening due to misunderstanding of the essential elements of what each company offers, and what it means.

There are two basic kinds of tests to establish haplogroups, and a third way to estimate.

Let’s talk about mitochondrial DNA first.

Mitochondrial DNA

You have a very large jar of jellybeans. This jar is your mitochondrial DNA.

In your jar, there are 16,569 mitochondrial DNA locations, or jellybeans, more or less. Sometimes the jelly bean counter slips up and adds an extra jellybean when filling the jar, called an insertion, and sometimes they omit one, called a deletion.

Your jellybeans come in 4 colors/flavors, coincidentally, the same colors as the 4 DNA nucleotides that make up our double helix segments. T for tangerine, A for apricot, C for chocolate and G for grape.

Each of the 16,569 jellybeans has its own location in the jar. So, in the position of address 1, an apricot jellybean is always found there. If the jellybean jar filler makes a mistake, and puts a grape jellybean there instead, that is called a mutation. Mistakes do happen – and so do mutations. In fact, we count on them. Without mutations, genetic genealogy would be impossible because we would all be exactly the same.

When you purchase a mitochondrial DNA test from Family Tree DNA, you have in the past been able to purchase one of three mitochondrial testing levels. Today, on the website, I see only the full sequence test for $199, which is a great value.

However, regardless of whether you purchase the full mitochondrial sequence test today, which tests all of your 16,569 locations, or the earlier HVR1 or HVR1+HVR2 tests, which tested a subset of about 10% of those locations called the HyperVariable Region, Family Tree DNA looks at each individual location and sees what kind of a jellybean is lodged there. In position 1, if they find the normal apricot jellybean, they move on to position 2. If they find any other kind of jellybean in position 1, other than apricot, which is supposed to be there, they record it as a mutation and record whether the mutation is a T,C or G. So, Family Tree DNA reads every one of your mitochondrial DNA addresses individually.

Because they do read them individually, they can also discover insertions, where extra DNA is inserted, deletions, where some DNA dropped out of line, and an unusual conditions called a heteroplasmy which is a mutation in process where you carry some of two kinds of jellybean in that location – kind of a half and half 2 flavor jellybean. We’ll talk about heteroplasmic mutations another time.

So, at Family Tree DNA, the results you see are actually what you carry at each of your individual 16,569 mitochondrial addresses. Your results, an example shown below, are the mutations that were found. “Normal” is not shown. The letter following the location number, 16069T, for example, is the mutation found in that location. In this case, normal is C. In the RSRS model of showing mitochondrial DNA mutations, this location/mutation combination would be written as C16069T so that you can immediately see what is normal and then the mutated state. You can click on the images to enlarge.

Family Tree DNA gives you the option to see your results either in the traditional CRS (Cambridge Reference Sequence) model, above, or the more current Reconstructed Sapiens Reference Sequence (RSRS) model. I am showing the CRS version because that is the version utilized by 23andMe and I want to compare apples and apples. You can read about the difference between the two versions here.

Defining Haplogroups

Haplogroups are defined by specific mutations at certain addresses.

For example, the following mutations, cumulatively, define haplogroup J1c2f. Each branch is defined by its own mutation(s).

Haplogroup	Required Mutations
J	C295T, T489C, A10398G!, A12612G, G13708A, C16069T
J1	C462T, G3010A
J1c	G185A, G228A, T14798C
J1c2	A188G
J1c2f	G9055A

You can see, below, that these results, shown above, do carry these mutations, which is how this individual was assigned to haplogroup J1c2f. You can read about how haplogroups are defined here.

At 23andMe, they use chip based technology that scans only specifically programmed locations for specific values. So, they would look at only the locations that would be haplogroup producing, and only those locations. Better yet if there is one location that is utilized in haplogroup J1c2f that is predictive of ONLY J1c2f, they would select and use that location.

This same individual at 23andMe is classified as haplogroup J1c2, not J1c2f. This could be a function of two things. First, the probes might not cover that final location, 9055, and second, 23andMe may not be utilizing the same version of the mitochondrial haplotree as Family Tree DNA.

By clicking on the 23andMe option for “Ancestry Tools,” then “Haplogroup Tree Mutation Mapper,” you can see which mutations were tested with the probes to determine a haplogroup assignment. 23andMe information for this haplogroup is shown below. This is not personal information, meaning it is not specific to you, except that you know you have mutations at these locations based on the fact that they have assigned you to the specific haplogroup defined by these mutations. What 23andMe is showing in their chart is the ancestral value, which is the value you DON’T have. So your jelly bean is not chocolate at location 295, it’s tangerine, apricot or grape.

Notice that 23andMe does not test for J1c2f. In addition, 23andMe cannot pick up on insertions, deletions or heteroplasmies. Normally, since they aren’t reading each one of your locations and providing you with that report, missing insertions and deletions doesn’t affect anything, BUT, if a deletion or insertion is haplogroup defining, they will miss this call. Haplogroup K comes to mind.

23andMe never looks at any locations in the jelly bean jar other than the ones to assign a haplogroup, in this case,17 locations. Family Tree DNA reads every jelly bean in the jelly bean jar, all 16,569. Different technology, different results. You also receive your haplogroup at 23andMe as part of a $99 package, but of course the individual reading of your mitochondrial DNA at Family Tree DNA is more accurate. Which is best for you depends on your personal testing goals, so long as you accurately understand the differences and therefore how to interpret results. A haplogroup match does not mean you’re a genealogy match. More than one person has told me that they are haplogroup J1c, for example, at Family Tree DNA and they match someone at 23andMe on the same haplogroup, so they KNOW they have a common ancestor in the past few generations. That’s an incorrect interpretation. Let’s take a look at why.

Matches Between the Two

23andMe provides the tester with a list of the people who match them at the haplogroup level. Most people don’t actually find this information, because it is buried on the “My Results,” then “Maternal Line” page, then scrolling down until your haplogroup is displayed on the right hand side with a box around it.

Those who do find this are confused because they interpret this to mean they are a match, as in a genealogical match, like at Family Tree DNA, or like when you match someone at either company autosomally. This is NOT the case.

For example, other than known family members, this individual matches two other people classified as haplogroup J1c2. How close of a match is this really? How long ago do they share a common ancestor?

Taking a look at Doron Behar’s paper, “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root,” in the supplemental material we find that haplogroup J1c2 was born about 9762 years ago with a variance of plus or minus about 2010 years, so sometime between 7,752 and 11,772 years ago. This means that these people are related sometime in the past, roughly, 10,000 years – maybe as little as 7000 years ago. This is absolutely NOT the same as matching your individual 16,569 markers at Family Tree DNA. Haplogroup matching only means you share a common ancestor many thousands of years ago.

For people who match each other on their individual mitochondrial DNA location markers, their haplotype, Family Tree DNA provides the following information in their FAQ:

- Matching on HVR1 means that you have a 50% chance of sharing a common maternal ancestor within the last fifty-two generations. That is about 1,300 years.
- Matching on HVR1 and HVR2 means that you have a 50% chance of sharing a common maternal ancestor within the last twenty-eight generations. That is about 700 years.
- Matching exactly on the Mitochondrial DNA Full Sequence test brings your matches into more recent times. It means that you have a 50% chance of sharing a common maternal ancestor within the last 5 generations. That is about 125 years.

I actually think these numbers are a bit generous, especially on the full sequence. We all know that obtaining mitochondrial DNA matches that we can trace are more difficult than with the Y chromosome matches. Of course, the surname changing in mitochondrial lines every generation doesn’t help one bit and often causes us to “lose” maternal lines before we “lose” paternal lines.

Autosomal and Haplogroups, Together

As long as we’re mythbusting here – I want to make one other point. I have heard people say, more than once, that an autosomal match isn’t valid “because the haplogroups don’t match.” Of course, this tells me immediately that someone doesn’t understand either autosomal matching, which covers all of your ancestral lines, or haplogroups, which cover ONLY either your matrilineal, meaning mitochondrial, or patrilineal, meaning Y DNA, line. Now, if you match autosomally AND share a common haplogroup as well, at 23andMe, that might be a hint of where to look for a common ancestor. But it’s only a hint.

At Family Tree DNA, it’s more than a hint. You can tell for sure by selecting the “Advanced Matching” option under Y-DNA, mtDNA or Family Finder and selecting the options for both Family Finder (autosomal) and the other type of DNA you are inquiring about. The results of this query tell you if your markers for both of these tests (or whatever tests are selected) match with any individuals on your match list.

Hint – for mitochondrial DNA, I never select “full sequence” or “all mtDNA” because I don’t want to miss someone who has only tested at the HVR1 level and also matches me autosomally. I tend to try several combinations to make sure I cover every possibility, especially given that you may match someone at the full sequence level, which allows for mutations, that you don’t match at the HVR1 level. Same situation for Y DNA as well. Also note that you need to answer “yes” to “Show only people I match on all selected tests.”

Y-DNA at 23andMe

Y-DNA works pretty much the same at 23andMe as mitochondrial meaning they probe certain haplogroup-defining locations. They do utilize a different Y tree than Family Tree DNA, so the haplogroup names may be somewhat different, but will still be in the same base haplogroup. Like mitochondrial DNA, by utilizing the haplogroup mapper, you can see which probes are utilized to determine the haplogroup. The normal SNP name is given directly after the rs number. The rs number is the address of the DNA on the chromosome. Y mutations are a bit different than the display for mitochondrial DNA. While mitochondrial DNA at 23andMe shows you only the normal value, for Y DNA, they show you both the normal, or ancestral, value and the derived, or current, value as well. So at SNP P44, grape is normal and you have apricot if you’ve been assigned to haplogroup C3.

As we are all aware, many new haplogroups have been defined in the past several months, and continue to be discovered via the results of the Big Y and Full Y test results which are being returned on a daily basis. Because 23andMe does not have the ability to change their probes without burning an entirely new chip, updates will not happen often. In fact, their new V4 chip just introduced in December actually reduced the number of probes from 967,000 to 602,000, although CeCe Moore reported that the number of mtDNA and Y probes increased.

By way of comparison, the ISOGG tree is shown below. Very recently C3 was renamed to C2, which isn’t really the point here. You can see just how many haplogroups really exist below C3/C2 defined by SNP M217. And if you think this is a lot, you should see haplogroup R – it goes on for days and days!

How long ago do you share a common ancestor with that other person at 23andMe who is also assigned to haplogroup C3? Well, we don’t have a handy dandy reference chart for Y DNA like we do for mitochondrial – partly because it’s a constantly moving target, but haplogroup C3 is about 12,000 years old, plus or minus about 5,000 years, and is found on both sides of the Bering Strait. It is found in indigenous Native American populations along with Siberians and in some frequency, throughout all of Asia and in low frequencies, into Europe.

How do you find out more about your haplogroup, or if you really do match that other person who is C3? Test at Family Tree DNA. 23andMe is not in the business of testing individual markers. Their business focus is autosomal DNA and it’s various applications, medical and genealogical, and that’s it.

Y-DNA at Family Tree DNA

At Family Tree DNA, you can test STR markers at 12, 25, 37, 67 and 111 marker levels. Most people, today, begin with either 37 or 67 markers.

Of course, you receive your results in several ways at Family Tree DNA, Haplogroup Origins, Ancestral Origins, Matches Maps and Migration Maps, but what most people are most interested in are the individual matches to other people. These STR markers are great for genealogical matching. You can read about the difference between STR and SNP markers here.

When you take the Y test, Family Tree DNA also provides you with an estimated haplogroup. That estimate has proven to be very accurate over the years. They only estimate your haplogroup if you have a proven match to someone who has been SNP tested. Of course it’s not a deep haplogroup – in haplogroup R1b it will be something like R1b1a2. So, while it’s not deep, it’s free and it’s accurate. If they can’t predict your haplogroup using that criteria, they will test you for free. It’s called their SNP assurance program and it has been in place for many years. This is normally only necessary for unusual DNA, but, as a project administrator, I still see backbone tests being performed from time to time.

If you want to purchase SNP tests, in various formats, you can confirm your haplogroup and order deeper testing.

You can order individual SNP markers for about $39 each and do selective testing. On the screen below you can see the SNPs available to purchase for haplogroup C3 a la carte.

You can order the Geno 2.0 test for $199 and obtain a large number of SNPs tested, over 12,000, for the all-inclusive price. New SNPs discovered since the release of their chip in July of 2012 won’t be included either, but you can then order those a la carte if you wish.

Or you can go all out and order the new Big Y for $695 where all of your Y jellybeans, all 13.5 million of them in your Y DNA jar are individually looked at and evaluated. People who choose this new test are compared against a data base of more than 36,000 known SNPs and each person receives a list of “novel variants” which means individual SNPs never before discovered and not documented in the SNP data base of 36,000.

Don’t know which path to take? I would suggest that you talk to the haplogroup project administrator for the haplogroup you fall into. Need to know how to determine which project to join, and how to join? Click here. Haplogroup project administrators are generally very knowledgeable and helpful. Many of them are spearheading research into their haplogroup of interest and their knowledge of that haplogroup exceeds that of anyone else. Of course you can also contact Family Tree DNA and ask for assistance, you can purchase a Quick Consult from me, and you can read this article about comparing your options.

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Houston Chronicle Article Features Gene by Gene Founders

Posted on March 17, 2014 by Roberta Estes

On Sunday, March 16^th, 2014, the Houston Chronicle features an article about Houston’s own entrepreneurs, Max Blankfeld and Bennett Greenspan who founded Gene by Gene, parent company of Family Tree DNA. Below, in a photo from the Chronicle, they hold samples of DNA trayed and ready to run in their Gene by Gene lab.

How many of you know that the pair began as a photographic film salesman and a watchmaker? This just proves what passion and innovation can and will do. Impossible is not a word either man knows.

Begun in 2000 as a retirement business, today Family Tree DNA has tested over 600,000 people directly and another half a million people through National Geographic through the Genographic and Geno 2.0 projects.

Their business model: Buy what you can afford. Don’t hire anyone you might have to lay off. Invest in automation and technology.

This seems to be working, as they are profitable and have provided a total of over 5 million discrete tests, between Family Tree DNA and the other Gene by Gene testing companies which provide medical and paternity testing.

The story of how the company began is legendary in DNA circles. Bennett Greenspan, a frustrated genealogist who had hit a dead end approached Dr. Michael Hammer at the University of Arizona. One might suggest that approached isn’t really the correct word. Hounded might be better. Bennett understood that his Y chromosome would match that of someone else who shared a paternal ancestor, and he wanted to find a lab to do that test. Michael Hammer finally simply acquiesced to get rid of Bennett, with the now infamous throw away line, “You know, someone should start a business doing this.” Never, never say that to an entrepreneur.

As reported in the Chronicle, reflectively, Dr. Hammer, an adviser to Gene by Gene and a regular speaker at the Family Tree DNA annual genetics conference, says today, “It was just the right time, right place. No one thought this was going to turn into anything.” Michael had obviously never met a man like Bennett.

I’ve known Bennett for 13 or 14 years now. It’s easy to see him as a successful businessman. But to know Bennett is to remember that he is truly a genealogist at heart, and everything he does with Family Tree DNA has genealogy as its heart and soul. If you walk into his office, you will be immediately reminded of this fact, and it’s hard to see Bennett as anything else other than one of us – just a kind-hearted genealogist seeking answers. In the photo below from the Chronicle, Bennett stands in front of his ancestor timeline which resides on his office wall. I wonder how many of these ancestors he has represented by DNA haplogroups today.

Thank you so much Bennett, for pushing that envelope, hounding Dr. Hammer and birthing genetic genealogy. Today, Max and Bennett are truly shepherding consumer genetics to the next step.

“We took science that was performed in a stuffy lab and brought it into the general public,” Greenspan said.

Thank Heavens they did. We are all the beneficiaries.

To read the rest of the article and for more photos, click here.

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23 Ways To Be a PITA

Posted on March 16, 2014 by Roberta Estes

No, not PETA, the People for the Ethical Treatment of Animals, but PITA – Pain In The Arm….yes….arm…what are you thinking???

For most people, being a PITA doesn’t come naturally….so you might need some help knowing how to be one, or perhaps perfecting your PITA skills. Yes, in case you’re wondering….my tongue is firmly implanted in my cheek.

For genetic genealogists, there are special ways to be a PITA. Let me share some of these with you, just so you can fine tune and add to your PITA skills.

First and maybe the best ways to be a PITA, right off the bat.

1. Send e-mails with no subject or punctuation and an indecipherable topic, especially to someone you’ve never communicated with before. Here’s an example. You can just copy and paste this and send it to anyone you want to irritate or confuse.

“i would love to have any information you could give me…..thanks…..”

I so want to send this person something about penile implants. Is this wrong?

2. Send e-mails with no capitals or punctuations. This is always a wonderful way to impress people.

i just wanted to let you know that i have no idea how to type or how to use the period or comma keys or how to use the shift button i’m also using the fact that i’m using my phone as an excuse not to use punctuation however I can manage to type half of my life story for you to try to decipher so get out your special decoder ring

3. BETTER YET, SEND THE ENTIRE MESSAGE, INCLUDING SEVERAL PAGES OF YOUR ANCESTORS NAMES WITH NO DATES OR OTHER IDENTIFYING INFORMATION IN ALL CAPITALS. THEN ASK FOR ANY INFORMATION THAT PERSON MIGHT HAVE ABOUT THOSE ANCESTORS. THIS IS ESPECIALLY USEFUL WHEN FIRST INTRODUCING YOURSELF AND LETS YOUR NEW CONTACT KNOW JUST HOW IMPORTANT THEY ARE AND HOW MUCH FUN IT’S GOING TO BE TO COMMUNICATE WITH YOU.

4. When a match asks you for genealogy information, just send them a link to your Ancestry.com tree. You can then sit back and laugh, knowing that they have no idea where to search in your 35,723 people for a common ancestor without looking for every surname they have. Plus, you have the added benefit that Ancestry will help you be a PITA by attaching your tree to their account like a giant kudzu vine that they can’t disentangle without knowing the secret handshake.

5. When a match asks you for genealogy information, never, ever send them something actually useful, like a pedigree chart with an index. Instead send them rambling e-mails with disconnected tidbits from both sides of your family, or that link to your Ancestry tree. Go to sleep then, knowing they will be up all night trying to figure this out.

6. Ask for, or better yet, demand free consulting. Select someone at random (not me please, I already receive more than my share – 17 yesterday alone) and send them a rambling stream-of-consciousness e-mail several pages long. At the end, tell them that you can’t afford to pay anything, but ask if they would tell you “what they think.” Before sending these to anyone in the genetic genealogy community, send several to other professionals, physicians or lawyers in your community and see how that works out?

Now, if someone is a project volunteer, that’s a bit different. They still don’t “owe” you free consulting, but they have set themselves forth as a volunteer resource. Still, try to be respectful of their time and be brief and concise in your requests.

In other words, the 21 page e-mail I received this week from Person Unknown demanding that I, as a project administrator, figure out how the “requester” was related to three people in the large Cumberland Gap project (also persons unknown) was, well, ahem, a bit over the top, to put it mildly. No, I confess, I did not read all 21 pages and the only reason I know it WAS 21 pages long is because I wanted to use it as a bad example. If that was your e-mail and I’ve just offended you, well, I’m sorry you’re offended, but that is not the way to win friends and influence people, nor to get your questions answers or your problems solved. It is, however, a great way to be a PITA. In fact, you win this week’s PITA award!

Here’s an example of a reasonable, concise question from my blog:

“Thanks for that explanation, I needed that information. Still would like to know what a “back mutation” is.”

And the answer:

“A back mutation is when a mutations happens, like from A to C, and then the reverse happens, a mutation from C to A. It initially looks like no mutation happened, unless you are aware of the intermediate step and that two mutations actually happened.”

There’s a big difference between a simple one or two line general DNA question and a multi-page personal epistle that the receiver has to read three times and make charts to even begin to unravel or understand, so, to be a PITA – always make yourself annoying and then you can wonder why you never receive replies from people. Then complain about not receiving replies.

Oh, and if you do write to a project administrator, never, ever tell them how or why you are writing specifically to them – it’s much more fun to leave them guessing. The sender of the 21 page epistle did not SAY it was the Cumberland Gap project – they left that for me to decipher.

7. Skim articles, don’t click on the links, and then ask questions of the author that would have been answered if you had clicked on the links they provided in the first place. They love receiving several of these e-mails every day!

Now, if you have DNA tested at any of the three major testing companies, there special ways for you to be a PITA with each one. Let me give you some fresh ideas.

At Family Tree DNA

8. Join a DNA project, any project. Then, when the administrator sends you a welcome message, introducing themselves and asking for genealogy information, send them a nasty note. Here’s one I received recently. You can just use it.

“Who the hell are you and why are you contacting me. Don’t ever contact me again.”

9. Family Tree DNA does you the very large favor of providing you with the e-mail addresses of your contacts instead of forcing you to go through a message system like at 23andMe and Ancestry.

When sending an e-mail to someone you match, be sure to never include the name of the person you match, or what kind of a test you took that matches. This will confuse them and make them really want to answer your inquiry. Many people manage test kits for several people and if you don’t put the name of the person you match in your e-mail, they will probably think it’s their kit, and then they will either spend a lot of time looking for matches and/or putting together genealogy info to send to you that is not useful. Then, after you receive the info, tell them you’re sorry, but the match was to a different person. That will truly endear you to them.

10. Don’t ever update your e-mail address…then complain online and loudly about how you never receive contacts from either your project administrator or your contacts/matches.

11. Don’t upload your GEDCOM file either, because someone might accidentally discover a common surname match or a common ancestor, and that would be just awful. It would also provide Family Tree DNA with the information to bold matching surnames on your autosomal match list for you, AND you’d get a $10 coupon…all of which would be just terrible.

12. Volunteer to be a project administrator, then do nothing at all. Leave your project entirely ungrouped, and refuse any assistance. In this case, you really don’t have to DO anything to be a PITA.

Better yet, create an off-site (non-FTDNA) website instead of using the one at Family Tree DNA and remove any information that could be useful to someone searching for their ancestral line. Here’s an example.

Don’t want to create your own website? Well, you can be almost as large a PITA by using the Family Tree DNA page and simply disabling anything useful, like, you know, most distant ancestor. That way people can see that there is a project and their line MIGHT be hidden in there, but they have no way to find out other than contacting you. Then, don’t answer, of course.

At 23andMe

13. Give yourself a really innovative “screen name,” like, say “Your cousin” or “3^rd cousin” or better yet, “My Mother.” That way when you send contact requests or sharing requests to people, it looks like it is coming from their mother…and if their mother has already passed over…well…let’s just say your contact request could be really startling. Worse yet, if that person matches two people who are equally as creative and both named themselves “My Mother,” how will they ever tell you apart??? And can you really have two mothers? OMG, I feel an identity crisis coming on…

14. Tell your contact that you are really interested in genealogy, provide a little bit of genealogy info, just a couple tidbits, maybe a juicy morsel, but then refuse to share your DNA.

15. Don’t provide any surname or location information. That might give someone a clue as to how you connect – so don’t ever do that.

16. I’d tell you to never upload your GEDCOM file, or create one, but you can actually be a larger PITA by uploading your file at 23andMe, because their file reader interface works so poorly that your match will be more frustrated trying to read the file than by not finding one at all. So you can be a PITA whether you upload your file or not. How’s that for good luck!

17. Don’t ever reply to contact or sharing requests. I know this one is already quite popular. About 90% of the people there already do this, so you’ll be in good company. If people at 23andMe aren’t interested in genealogy, there is an opt-out, but don’t opt out because you can be much more of a PITA by leaving yourself in the genealogy pool but never replying to anyone, especially close matches. Drives them crazy!

At Ancestry

18. First and foremost, never, ever reply to messages. I know that this one is very popular, because many of my DNA matches, including my closest match at Ancestry has implemented this scheme. She, I assume, due to the name (unless I’m related to the boy named Sue) and I share a common great-grandfather. In this case, I have photos she might really like to have. Too bad she is being a PITA.

19. Make your tree private, AND never reply to requests. This is the ultimate tease, because your match KNOWS the information is there, right there, hiding just out of reach, and can’t get to it.

20. Copy and paste several trees together because, after all, the names match and, hello, it wouldn’t BE on Ancestry if it wasn’t RIGHT. Right? You can then scare the bejesus out of someone when they discover that their non-Mormon grandfather had 7 wives and 35 kids….all while married to their grandmother. That’s always fun. Then, when they frantically contact you to ask about it, don’t even think about replying to that message.

21. Insist that because you and your Ancestry DNA match have a shakey leaf and a common ancestor in your tree, that you KNOW that’s your DNA match because Ancestry SAYS SO. When your match tries to explain that connection might be incorrect, may not be your DNA match and that there is no way to prove it, at least not without utilizing tools from either GedMatch or Family Tree DNA, don’t reply to them anymore. That will certainly solve the problem!

22. Send random people invitations to your Ancestry tree – and be positive your tree name has absolutely no identifying words in it. Like the one I received recently, for example, named “A Global Tree of Life.” Yep, I can tell you right away who sent that to me and why!!!

23. Oh yes, and in true PITA-esque fashion, never, ever say “Thank you,” to anyone, ever, for anything. Thank you is such an easy thing to say and it makes the person on the receiving end feel good about whatever it was they did for you – even if was “just” answering your question. So don’t slip up and do this! Otherwise, you’ll certainly be thrown out of the PITA Club!

Added PITAs

24. Instead of being grateful for free things, like blogs and webpages, and simply unsubscribing or ignoring them if you don’t like them, make nasty comments. That will certainly confirm your PITA membership and make the person providing the free content feel warm and fuzzy about the time they invest.

“How about I unsubscribe to your boring emails about your family I have been getting the last year. Ms PITA.”

______________________________________________________________

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Big Y Release

Posted on February 27, 2014 by Roberta Estes

Drum roll…the big day is finally here.

Family Tree DNA held a webinar meeting today to explain the new Big Y product features for a number of us who blog or otherwise educate within the genetic genealogy community.

First, the results will begin rolling today, not tomorrow. 100 will initially be released today and the balance of the initial orders will be released as they finish QA over the next month, at which point, Family Tree DNA anticipates their backlog will be resolved. There were thousands of tests ordered. They aren’t saying how many thousands.

First, a little background. There are 36,562 known Y SNPs in the Family Tree DNA data base that everyone is being compared to. In the example we saw of the delivered product, 25,749 has been found and callable at a high confidence rate in the individual being tested and were reported. Low confidence calls are not reported on this personal delivery page, but are included in the data download files.

On the customer’s personal page, there are two tabs. The first Tab is for reporting against known SNPs.

The second is for Novel Variations, in other words, SNPs not on the list of 36,562 known and previously named SNPs.

In essence, Family Tree DNA has implemented a 4 step process.

An individual’s sequenced data is compared to the SNP data base and divided into two categories, known and previously unknown. The customer’s data is delivered based on these two categories.
All customer data is being loaded into a mammoth size data base at which point it will be determined which SNPs (please see the definition of a SNP here) are actually undiscovered SNPs that will be named, and which are truly novel, family or clan variants.
New SNPs that are found in enough of the population will be named and will be added to the haplotree.
Novel variants will remain that, and will continue to be reported on client pages.

Family Tree DNA is still working on items 2-4. In addition, they are working on a white paper which will be out in the next 6 weeks or so that will discuss things like the average number of novel SNPs per person being discovered, mutation rates, performance metrics and cross validation of platforms between the next gen sequencing Illumina equipment, Sanger sequencing and chip based sequencing, like the Geno 2.0 chip.

What’s Being Reported?

According to Dr. David Mittelman, the Y chromosome has about 60 million letters. About half of those are inverted repeats and are therefore not sequenceable.

Of the balance, there are several with poor readability, for example, some that simulate the X, etc. These are also not useful or reliable to read.

That leaves about 10 million, these being the gold standard of Y sequencing. Family Tree DNA tries to read about 13.5 million of these base pairs. They promised 10 million positions when they announced this product. They are delivering between 11.5 and 12.5 million positions per person. They also promised about 25,000 common variants, meaning known SNPs and they are delivering between 25,000 and 30,000 per person. This is only counting medium to high confidence calls. The low confidence calls are included in the download files, but not counted in this total or shown on your personal page.

Exactly how many locations are reported for any individual are shown on the bottom left hand side of the page. This example is generic. Yours might say something like, “Showing 1 of 10 of 25,000 of 36,564.” In this case, 25,000 would be the number of SNPs read and called on your test.

All 25,000 or so results are being shown, both positive and negative. That way, there is no question about whether a specific location was tested, or the outcome. Of course, the third and fourth outcome options are a no-call or poor confidence call at that location.

All novel mutations are being reported by reference number so that they can be compared to like data from any source, as opposed to an “in-house” assigned number.

Insertions and deletions are also in the download files, but not reported on the customer’s delivery page.

Personal data is also searchable by SNP.

Individual SNP Testing

After steps 2 and 3 have occurred, it has to be determined which SNPs are found in a high enough percentage of a population to warrant primer development to test individual SNP positions.

Family Tree DNA also clarified something from the November conference. The 2000 SNP limit is only how many SNPs can be loaded at one time, not the total number they will ever develop primers for or test for. They will do what makes sense in terms of the SNP being present in enough of the market to warrant primer development. With the very large number of Novel SNPs being discovered, it wouldn’t make much sense to purchase 50 individual SNP tests at $39 each. The break even point today, at $39, would be 17 individual SNPs, as compared to the $695 Big Y test. I expect that eventually the demand for individual SNP testing will decrease substantially.

Downloadable Files

Available on everyone’s page is the ability to download 2 files, a VCF (variant call file) which lists the variants identified as compared to the human reference sequence and the BED file which is a text file which shows a range of positions that passed the QC.

They will also be making available the BAM raw data files within the next week or so, but are finalizing the delivery methodology due to the very large file sizes involved.

The Much Anticipated HaploTree

If I had a dollar for every time someone has asked when the new tree would be available, I’d be a rich woman. As we all know, there have been a couple of problems with the tree. The new tree is 7 to 8 times the size of the 2010 tree. The tree, of course, has been cast in warm jello, an ever-moving target. And with the SNP tsumani that has been arriving with the full sequencing of the Y chromosome, that tree will very shortly be much larger still.

Bennett Greenspan said today that an updated tree is, “Needed, desired and will be delivered.” He went on to say that they have had two teams working together with Nat Geo for the past couple of months to both finalize the tree itself and to work on the customer interface. Since the tree is much larger, it’s not as easy as the older trees which could be seen at a glance and easily navigated. Furthermore, there is also the matter of integration with National Geographic.

Bennett says an updated tree will be delivered “within the next several weeks.”

New SNPs that are discerned to be SNPs and not novel/clan or family variations will then be named and added to the tree.

Integration

The initial release of Big Y data will be just that, a release of the results of the data, displayable on your personal page and downloadable. The newly found SNPs will not initially update the current haplotree on your personal page. This is the same issue we have today with the transfer and integration of Nat Geo data, because the tree is not current, so this is nothing new. The implementation of the new tree however, will remedy both problems.

The Future

Never happy with what we have, genetic genealogists will want a way to match to other people on SNPs, just like we do today with STR markers. In fact, we’ll want a way to integrate that matching and discern what it means to our own private family or clan situations.

Family Tree DNA is aware of that, planning for it, and welcomes feedback for how they can make this information even more useful in the future than it is today.

New Orders

I expect this delivery of new information via Big Y results will indeed spur a new interest in ordering this test from people who were waiting to see exactly what was being delivered. For those people ordering now, they can expect an 8-10 week turnaround, so long as additional vials aren’t required for testing.

For More Information

Elise Friedman is holding the free Big Y Webinar tomorrow, Friday, February 28^th. You can read about it, sign up and learn how to access this and other webinars after their initial showing at this link.

Family Tree DNA FAQ pages you’ll want to visit are here and here.

______________________________________________________________

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STRs vs SNPs, Multiple DNA Personalities

Posted on February 10, 2014 by Roberta Estes

One of the questions I receive rather regularly is about the difference between STRs and SNPs.

Generally, what people really want to understand is the difference between the products, and a basic answer is really all they want. I explain that an STR or Short Tandem Repeat is a different kind of a mutation than a SNP or a Single Nucleotide Polymorphism. STRs are useful genealogically, to determine to whom you match within a recent timeframe, of say, the past 500 years or so, and SNPs define haplogroups which reach much further back in time. Furthermore SNPs are considered “once in a lifetime,” or maybe better stated, “once in the lifetime of mankind” type of events, known as a UEP, Unique Event Polymorphism, where STRs happen “all the time,” in every haplogroup. In fact, this is why you can check for the same STR markers in every haplogroup – those markers we all know and love.

This was a pretty good explanation for a long time but as sequencing technology has improved and new tests have become available, such as the Full Y and Big Y tests, new mutations are being very rapidly discovered which blurs the line between the timeframes that had been used to separate these types of tests. In fact, now they are overlapping in time, so SNPs are, in some cases becoming genealogically useful. This also means that these newly discovered family SNPs are relatively new, meaning they only occurred between the current generation and 1000 years ago, so we should not expect to find huge numbers of these newly developed mutations in the population. For example, if the SNP that defined haplogroup R1b1a2, M269, occurred 15,000 years ago in one man, his descendants have had 15,000 years to procreate and pass his M269 on down the line(s), something they have done very successfully since about half of Europe is either M269 or a subclade.

Each subclade has a SNP all its own. In fact, each subclade is defined by a specific SNP that forms its own branch of the human Y haplotree.

So far, so good.

But what does a SNP or an STR really look like, I mean, in the raw data? How do you know that you’re seeing one or the other?

Like Baseball – 4 Bases

The smallest units of DNA are made up of 4 base nucleotides, DNA words, that are represented by the following letters:

A = Adenine
C = Cytosine
G = Guanine
T = Thymine

These nucleotides combine in pairs to form the ladder rungs of DNA, shown right that connect the helix backbones. T typically combines with A and C usually combines with G, reaching between the backbones of the double helix to connect with their companion protein in the center.

You don’t need to remember the words or even the letters, just remember that we are looking for pattern matches of segments of DNA.

Point Mutations

Your DNA when represented on paper looks like a string of beads where there are 4 kinds of beads, each representing one of the nucleotides above. One segment of your DNA might look like this:

If this is what the standard or reference sequence for your haplotype (your personal DNA results) or your family haplogroup (ancestral clan) looks like, then a mutation would be defined as any change, addition, or deletion. A change would be if the first A above were to change to T or G or C as in the example below:

A deletion would be noticed if the leading A were simply gone.

An addition of course would be if a new bead were inserted in the sequence at that location.

All of the above changes involve only one location. These are all known as Point Mutations, because they occur at one single point.

SNPs

A point mutation may or may not be a SNP. A SNP is defined by geneticists as a point mutation that is found in more than 1% of the population. This should tell you right away that when we say “we’ve discovered a new SNP,” we’re really mis-applying that term, because until we determine that the frequency which it is found in the population is over the 1% threshold, it really isn’t a SNP, but is still considered a point mutation or binary polymorphism.

Today, when SNPS, or point mutations are discovered, they are considered “private mutations” or “family mutations.” There has been consternation for some time about how to handle these types of situations. ISOGG has set forth their criteria on their website. They currently have the most comprehensive tree, but they certainly have their work cut out for them with the incoming tsunami of new SNPS that will be discovered utilizing these next generation tests, hundreds of which are currently in process.

STRs

A STR, or Short Tandem Repeat is analogous to a genetic stutter, or the copy machine getting stuck. In the same situation as above, utilizing the same base for comparison, we see a group of inserted nucleotides that are all duplicates of each other.

In this case, we have a short tandem repeat that is 4 segments in length meaning that CT is inserted 4 times. To translate, if this is marker DYS marker 390, you have a value of 5, meaning 5 repeats of CT.

So I’ve been fat and happy with this now for years, well over a decade.

The Monkey Wrench

And then I saw this:

“The L69/L159 polymorphism is essentially a SNP/STR oxymoron.”

To the best of my knowledge, this is impossible – one type of mutation excludes the other. I googled about this topic and found nothing, nor did I find additional discussion of L69, other than this.

My first reaction to this was “that’s impossible,” followed by “Bloody Hell,” and my next reaction was to find someone who knew.

I reached out to Dr. David Mittelman, geneticist and Chief Scientific Officer at Gene by Gene, parent company of Family Tree DNA. I asked him about the SNP/STR oxymoron and he said:

“This is impossible. There is no such thing as a SNP/STR.”

Whew! I must say, I’m relieved. I thought there for a minute there I had lost my mind.

I asked him what is really going on in this sequence, and he replied that, “This would be a complex variant — when multiple things are happening at once.”

Now, that I understand. I have children, and grandchildren – I fully understand multiple things happening at once. Let’s break this example apart and take a look at what is really happening.

HUGO is a reference standard, so let’s start there as our basis for comparison.

In the L69 variant we have the following sequence.

We see two distinct things happening in this sequence. First, we have the deletion of two Gs, and secondly, we have the insertion of one additional TG. According to Dr. Mittelman, both of these events are STRs, multiple insertions or deletions, and neither are point mutations or SNPs, so neither of these should really have SNP names, they should have STR type of names.

Let’s look at the L159 variant.

In this case, we have the GG insertion and then we have a TG deletion.

In both cases, L69 and L159, the actual length of the DNA sequence remains the same as the reference, but the contents are different. Both had 2 nucleotides removed and 2 added.

The good news is, as a consumer, that you don’t really need to know this, not at this level. The even better news is that with the new discoveries forthcoming, whether they be STRs or SNPs, at the leafy end of the branch, they are often now overlapping with SNPs becoming much more genealogically useful. In the past, if you were looking at a genetics mutation timeline, you had STRs that covered current to 1000 years, then nothing, then beginning at 5,000 or 10,000 years, you have SNPs that were haplogroup defining.

That gap has been steadily shrinking, and today, there often is no gap, the chasm is gone, and we’re discovering freshly hatched recently-occurring SNPs on a daily basis.

The day is fast approaching when you’ll want the full Y sequence, not to further define your haplogroup, but to further delineate your genealogy lines. You’ll have two tools to do that, SNPs and STRs both, not just one.

______________________________________________________________

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What If You Die?

Posted on January 28, 2014 by Roberta Estes

Well, it’s not exactly a what-if question, it’s a given. You’re going to. The only real question is when, and will you be prepared?

By prepared, I’m not talking about your will, I’m talking about your DNA.

The unspeakable happened this past weekend. A long time researcher and close friend, Aleda, died, rather unexpectedly. She has been chronically ill for some time, but not critically. On Saturday, she read my blog and worked with her research group on the Autosomal DNA Segment Analyzer. Then, in the afternoon, she said she didn’t feel well and got into her chair to take a nap. Nothing unusual about that. Aleda didn’t feel well a lot, but she persevered anyway, always helping and guiding her research group. But this time was different. Aleda was gone.

Her research group is wandering around like a group of lost souls. It’s like someone shot a hole through the middle of all of us. This isn’t a large well organized group with an official structure, but a small group of closely and not so closely related researchers trying to figure out their DNA and genealogy connections.

If you are a significant contributor, you will be sorely missed. If you are reading this, and have had your DNA tested, you are one of the contributors.

The research group members are already asking, “What next? How do we access the DNA records of the people Aleda had tested?” Good question. Let’s talk about preparing for the inevitable.

Aleda had given the kit passwords to a friend, who is now so upset she can’t find them. As the project administrator of one of the projects that includes one of Aleda’s family member’s kits, I can see some of the information.

E-Mail

I can see that Aleda set up a special DNA e-mail address which I’m presuming she used for all of the kits. Unfortunately, there is no alternate e-mail address.

When Family Tree DNA, and virtually all the companies, do a password reset, they send the password information to the e-mail address on file.

Does anyone, other than Aleda, have the password to that e-mail account?

Project administrators cannot change primary e-mail addresses. Only the kit owner can do that.

If you change your password to your e-mail account, you’ll need to remember to provide the new password to your trusted other as well.

Passwords

If you share your password with someone, that’s fine, but if they can’t find it, or if you change it and don’t tell them, that won’t be helpful. You might want to add their e-mail as an alternate. You might want to provide this information to multiple people, just in case your chosen person predeceases you, or some other unfortunate situation exists, like a fire, system crash or losing the passwords.

At 23andMe, to download a raw data file, a password isn’t enough. You also have to know the answer to the secret question.

Beneficiary Information

Family Tree DNA goes one step further and provides people with a beneficiary form for situations just like this.

Unfortunately, Aleda’s family member’s form is blank, and she protected his information by changing the setting to prevent project administrators from completing this form.

Covering all the Bases

Don’t forget about 3^rd party sites like GedMatch where you may also be registered.

What to do?

1. Family Tree DNA is the only company to provide the option of beneficiary information. Take advantage of this and complete the form. It’s only 3 lines – name, phone and e-mail of your beneficiary. You can find it under the “My Account” tab on the blue/black bar at the top of your personal page.

2. Add an alternate e-mail address.

3. Provide password and e-mail password information to a trusted other, and maybe a few trusted others.

4. Remember to notify password holders when you change passwords to either e-mail or DNA kits.

5. If you are a project administrator, try your best to find a co-administrator and share information, such as genealogy provided by participants.

6. Provide a notification list for your family that includes important genealogy and DNA contacts, including Family Tree DNA if you are a project administrator. Many times I’ve received an e-mail from someone’s account with their name as the subject. I’ve learned to cringe when I see them, because I know what’s coming…but at least the family has taken the trouble to notify those of us who communicate electronically with that person instead of leaving us to wonder forever what happened.

7. Preparing for the inevitable doesn’t just apply to DNA testing, but to all aspects of online life. Think about Facebook, for example. My brother died 2 years ago, today, and no one has his password. We post to his page from time to time, but like a ghost ship, his Facebook account will sail off into the indefinite captainless future.

______________________________________________________________

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