Proving Native American Ancestry Using DNA

Posted on December 18, 2012 by Roberta Estes

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Every day, I receive e-mails very similar to this one.

“My family has always said that we were part Native American. I want to prove this so that I can receive help with money for college.”

The reasons vary, and not everyone wants to prove their heritage in order to qualify for some type of assistance. Some want to find their tribe and join to reclaim their lost heritage. Some want to honor their persecuted and hidden ancestors, undoing some of the wickedness of the past, and some simply seek the truth. Regardless of why, they are all searching for information lost to them.

I’d like to talk about three topics in proving Native Ancestry. First, I’d like to do some myth-busting. Second, I’d like to talk a little about conventional research and third, I’d like to discuss what DNA can, and can’t, do for you.

As you read this blog, please click on the links. I’m not going to repeat something I’ve already covered elsewhere.

Myth-Busting

Myth 1 – Free College

There is no free college for Native Americans. There are sometimes scholarships and grants available, mostly by the individual tribes themselves, for their official members.

Myth 2 – Joining a Tribe

Many people think that if they can only figure out which tribe their ancestor descends from, they can join. This is untrue. Each tribe is a sovereign nation, and they get to determine their criteria for membership. Most tribes require a specific percentage of Native “blood,” called blood quantum, in addition to being able to document which tribal member you descend from. Some tribes require as much as 25% Native heritage, and most require at least 1/16^th Native heritage, which is one great-great grandparent. If you don’t know who in your family was a tribal member it’s unlikely that you would be able to meet the blood quantum requirement.

Myth 3 – DNA Testing Will Reveal my Tribe

Generally, DNA testing does not provide us with the information needed to determine a tribe, although it can clearly tell, using y-line or mitochondrial DNA testing, whether your direct paternal or maternal line was or was not Native. Sometimes you will be able to infer a tribe based on your matches and their documented history, but the definition of tribes, their names and locations have changed over time. We are working on improving this ability, but the science simply isn’t there yet and the number of Native people who have tested remains small.

Simply put, most federally recognized tribes aren’t interested in more tribal members. More members mean a smaller piece of the pie for existing members. The pot of resources, whatever resources you’re discussing, is only so large and it must be shared by all tribal members.

What is a Tribe?

Tribes in the US fall into two categories. When most people think about tribes they are talking about federally recognized tribes. Those are tribes that have some continuity with the past, such as they have always been a tribe, or they still retain tribal lands, etc., and the federal government recognizes them as such. These are the tribes that qualify for government programs and many own casinos. As you might imagine, with the influx of casino money, the desire to join a tribe has increased significantly.

The second category is non-federally recognized tribes. Some are state recognized and others, not at all. State recognition does not in any way guarantee federal or state funding and there are no universal standards for state recognition. In other words, your mileage may vary, widely. Non-federally recognized tribes are often run as non-profit entities. In many cases, these tribes will help people research and document their genealogy and may be more open to tribal membership for those connecting with their Native heritage.

Be aware that some “tribes” that fall into the non-federally recognized category may be less than ethical. Some tend to come and go. In one case, to apply to join, one had to provide information such as social security numbers and a complete family pedigree including your children. In some cases, membership is very expensive, hundreds of dollars, but is available to almost anyone for the right price. When evaluating tribes that are not federally recognized, if something sounds fishy, it probably is. Caution is the watchword.

In general, the federally recognized tribes do not feel kindly towards the non-federally recognized tribes and view them as “fake,” interlopers trying to get part of that pie. Of course, the non-federally recognized tribes feel differently; that they are reclaiming their heritage denied them. Native American politics is nothing new and is fraught with landmines.

No federally recognized tribes, to the best of my knowledge, have considered DNA testing as a criteria for membership. No federally recognized tribe has endorsed or participated in DNA testing that I’m aware of. This does not mean that individuals have not privately tested.

Traditional Genealogy Research

Given the criteria for membership in federally recognized tribes, traditional genealogy is the only way to obtain the type of information required. If your family history includes a tribal name, and east of the Mississippi, that most often is Cherokee, contact the various Cherokee tribes to inquire about membership criteria. If the membership criteria is 25% blood quantum, and you must live on the reservation, you’re toast…..no need to continue that line of research if your goal is to join the tribe.

If your goal is simply to find your Native ancestor, that’s another matter entirely. Begin by using the traditional research tools.

First, look at where your ancestor or that family line was located. Did they migrate from elsewhere? How were they listed in the census? Was someone listed as other than white, indicating mixed race? Check the records where they lived, tax records and others to see if there is any indication of non-European heritage. Remember that your non-white ancestor would have retained their “darker” countenance for at least 2 generations after being admixed. Many Native people were admixed very early.

So first, check the normal genealogy records and look for hints and traces of non-European ancestry.

Second, turn to Native resources that might reflect the Native people in the areas where your family is or was found. The Access Genealogy site is absolutely wonderful and has an amazingly complete set of records including searchable tribal rolls. In addition, I add information almost daily to the Native Heritage Project at www.nativeheritageproject.com, which is searchable. There are many more resources including several collections at Ancestry.com.

Hopefully, these records will help narrow your focus in your family tree to a particular person or two, not just a general branch. Family rumors like “Grandma was a Cherokee Princess” are particularly unuseful. What they more likely mean is that there was indeed some Native ancestry someplace in her line. Cherokee has become a generic word like Kleenex. It may also have meant that Indian heritage was claimed to cover much less desirable African heritage. Institutionalized discrimination existed against any people of color in pre-1967 America, but Indians generally retained some rights that people of African ancestry did not. Laws varied by state and time. Take a look at my blog about Anti-Miscegenation Laws and when they were overturned.

Now, let’s look at DNA testing to see what it can do for you.

DNA Testing to Prove Native Ancestry

There are three types of DNA testing that you can do to prove Native Ancestry. Two are very focused on specific family lines, and one is much more general.

Mitochondrial for your direct maternal line.
Y-line for your direct paternal line – if you are a male. Sorry ladies.
Autosomal to test your ethnic mix and one direct marker test for Native ancestors.

On a pedigree chart, these genealogical lines look like this:

You can see the path that the blue Y chromosome takes down the paternal line to the brother and the path the red mitochondrial DNA takes down the maternal line to both the brother and the sister. Autosomal tests the DNA of all of the 16 ancestral lines shown here, but in a different sort of way.

Let’s look at each type of testing separately.

Y-Line DNA – For Paternal Line Testing for Males

The Y-line testing tests the Y chromosome which is passed intact from father to son with no DNA from the mother. This is the blue square on the pedigree chart. In this way, it remains the same in each generation, allowing us to compare it to others with a similar surname to see if we are from the same “Smith” family, for example, or to others with different surnames, in the case of adoption or Native heritage. Native American genetics isn’t terribly different than adoptees in this situation, because different English surnames were adopted by various family members, into the late 1800s and sometimes into the early 1900s, depending on the location.

Y-line DNA can tell you whether or not you descend from a common male genealogically when compared to another testing participant. Small mutations do take place and accumulate over time, and we depend on those so that we don’t all “look alike” genetically. It can also tell you by identifying your deep ancestral clan, called a haplogroup, whether or not you descend from early Native Americans who were here before contact with Europeans. For that matter, it can also tell you if you descend from those of African, European or Asian ancestry.

Scientists know today that there are only two primary haplogroups indicating deep ancestry that are found among Native American males who were here prior to contact with Indo-Europeans, and those haplogroups are C and Q3. It is not accurate to say that all C and Q3 individuals exist only in the American Native population, but the American Native population is part of the larger group worldwide that comprises C and Q3. We find some haplogroup C and Q3 in Europe but none in African populations, although we do learn more every single day in this infant science.

This sometimes becomes confusing, because the single most common male haplogroup among current Cherokee tribal members who have tested is R1b. How can this be, you ask? Clearly, one of three possibilities exists:

The Cherokee (or those tribes who were assimilated into the Cherokee) adopted a European male into the tribe or a European male fathered a child that was subsequently raised as Cherokee.
The R1b ancestor was not adopted into the tribe, maintained their European/American identity but married a Cherokee individual woman and their descendants are recognized as Cherokee today.
There is some level of R1b admixture in the Native population that preceded contact with Europeans that we have not yet identified.

Because of the unique haplogroups for Native Americans who preceded European contact, Y-line is the only way to positively confirm that a specific line is or is not of Native American descent. This obviously applies to all of the individuals in the pedigree chart who directly descend from the oldest known ancestor in this paternal line.

Y-line testing does not indicate anything about the contributions of the other ancestors in this family tree. In other words, you could be 3/4^th Native, with only the direct paternal line being European, and this test would tell you nothing at all about those other three Native lines.

When ordering DNA tests at Family Tree DNA, which is where I recommend that you test, everyone is encouraged to join projects. There are several types of projects, but to begin with, you should join your surname project. Not only does this group you with others whom you are likely to match, but this also assures that you receive the project based discounts. I blogged about how to find and join relevant projects.

You can test at 12, 25, 37, 67 or 111 marker “locations” on the Y chromosome. I generally recommend 37 or 67 to begin which gives you enough to work with but isn’t terribly expensive. At Family Tree DNA, you can always upgrade later, but it’s less expensive in total to test more initially.

Family Tree DNA provides significant tools for Y-line DNA as well as Mitochondrial DNA. At Family Tree DNA, for all their tests, you are provided with the e-mail addresses of your matches. At Ancestry and 23andMe, you contact matches through their internal message system. My experience has been that direct e-mails have a better response rate.

The person looking for Native Heritage will be most interested in their haplogroup designation. If your haplogroup is either Q or C, you’ll want to join your haplogroup project, minimally, as well as other relevant Native American projects, and work with the administrators for further testing. Remember, neither haplogroup Q nor C are always Native, so deeper testing may be in order. You may also match others with confirmed Native heritage, including a tribe.

If the haplogroup is not Native, then you’ll have to take a look at possible reasons why.

One can never interpret non-Native haplogroup results of any one line to answer the much broader questions of, “do I have Native heritage”, “how much” and “where?” What you can do at that point is to continue to test other lines in order to discover the identity of your Native American ancestor.

Obviously, the Y-line test is only for males. Ladies, I feel your pain. However, these next tests are for both sexes.

Mitochondrial DNA – For Direct Maternal Line Testing for Both Sexes

Mitochondrial DNA is inherited by all children from their mother only, with no admixture from the father. Women obtain their mitochondrial DNA from their mother, who got it from their mother, on up the line into infinity. This is the red circle on the right hand side of the pedigree chart. Like Y-line DNA, mitochondrial DNA is passed intact from one generation to the next, except for an occasional mutation that allows us to identify family members and family lines.

Unfortunately, it does not follow any surname. In fact the surname changes with every generation when women marry. This makes it more challenging to work with genealogically, but certainly not impossible. Because of the surname changes in every generation, there are no “surname” projects for mitochondrial DNA, per se, but there are other types of projects. For example, the Mothers of Acadia project is using mitochondrial DNA to reconstruct the Acadian families including those of Native American heritage.

There are three levels of testing you can take for mitochondrial DNA at Family Tree DNA, which is where I recommend that you test. The mtDNA, the mtDNAPlus and the Full Sequence. The mtDNA test is a starter test that will provide you with a base haplogroup, but will leave people searching for Native ancestry needing a more complete test for full haplogroup identification confirming Native ancestry. I strongly recommend the full sequence test, but if the budget just won’t allow that, then the mtDNAPlus will do until you can afford to upgrade. Family Tree DNA is the only major lab that tests the full sequence region, plus, they have the largest matching data base in the industry.

To put this in perspective for you, the mtDNA and the mtDNAPlus tests both test about 10% of your mitochondrial DNA and the full sequence test tests all of your 16,569 mitochondrial locations. You can then compare them with other people who have taken any of those 3 tests. Pricing for the mtDNAPlus is currently $139 and the full sequence is $199.

MtDNA testing is not as popular as Y-line testing because it’s more difficult to use genealogically as last names change every generation. When you look at your matches, you have no idea whatsoever if you might be related to these people in a genealogically relevant time frame by looking at their last names. Those who have invested the effort to collaboratively work on their mtDNA matches, assuming a full sequence match and a shared geographical history as well, have been pleasantly surprised by what they’ve found.

A haplogroup assigning deep ancestry is provided through mitochondrial testing, so like the Y-line, depending on the haplogroup assigned, you will know if your ancestors were here before European contact. Maternal haplogroups that indicate Native heritage include A, B, C, D and X. Like Y-line DNA testing, none of these haplogroups are exclusive to Native Americans, so a full sequence level test will be required to confirm a Native American subgroup.

After you receive your results, you can enter the mtDNA and mtDNAPlus portions into public data bases. There are no public data bases for the full sequence segment because there may be medical implications in some of those mutations, so they are not displayed publicly although they are compared privately within the Family Tree DNA data base. You will want to enter your data and check for matches at www.mitosearch.org (upload directly from your matches page at Family Tree DNA), www.smgf.org and www.ancestry.com, although beware of Ancestry’s accuracy issues.

Update: As of 2019, mitosearch and SMGF no longer exist and Ancestry no longer sells Y and mitochondrial DNA tests, having destroyed their database.

Testing the Y-line and mitochondrial DNA individually gives us a great deal of very specific information about 2 lines in your pedigree chart. The best method of identifying Native American ancestors is indeed to test as many lines on your DNA pedigree chart using this methodology as possible. Let’s take a minute to look at how to create a DNA pedigree chart.

DNA Pedigree Chart

If your Y-line and mitochondrial DNA have proven not to be Native, that doesn’t mean that the rest of your lines aren’t.

Let’s take a look at how to create a DNA pedigree chart so that you can focus your Y-line and mitochondrial DNA testing for other lines.

The purpose of a DNA pedigree chart is to provide guidance in terms of inheritance and also to provide a way of documenting your progress. My chart is shown below, as an example.

You can see the Y-line of my father and the mitochondrial line of my mother, on both ends of the pedigree chart. At the top of each line, I have recorded the haplogroup information for each family. Color coding each line helps in tracking descendants who would carry the DNA of the ancestor of that line. For example, my mother’s father’s mother’s line is the yellow Miller line. I need to find a daughter of my grandfather’s sisters, or their children, or their daughter’s children, to test for that mitochondrial DNA line. Which reminds me, I need to call my cousin. Family reunions, picnics and holidays are great for this type of thing. Sadly, so are funerals.

I blogged about how to put together your own DNA pedigree chart. If you’re Native and adopted, then refer to the adoptee blog instead, or in addition.

But sometimes, we can’t find the right people in order to test, so we move to autosomal testing to help us fill in the blanks.

Autosomal Testing – For Both Sexes – The Rest of the Story

Autosomal DNA testing tests all of your 23 pairs of chromosomes that you inherit from both of your parents. You get half of each chromosome from each parent. You can see this pattern on the pedigree chart, represented by all of the 16 genealogical lines. Therefore, as you move up that tree, you should have inherited about 25% of your DNA from each grandparent, about 12.5% of your DNA from each great-grandparent, as have all of their other great-grandchildren.

Therefore beginning with your parents, you carry the following approximate amount of DNA from each of these ancestors. I say approximate, because while you do receive exactly 50% of your DNA from each parent, there is no guarantee that their parents DNA was admixed in your parents such that you receive exactly 25% from each grandparent, but it’s close. You can see the percentages in the chart below.

Generation	Relationship	% of Their DNA You Carry
1	Parents	50
2	Grandparents	25
3	Great-grandparents	12.5
4	GG-grandparents	6.25
5	GGG-grandparents	3.125
6	GGGG-grandparents	1.56
7	GGGGG-Grandparents	0.78

Given this chart, if the Native percentage is back beyond 6 generations and drops below the 1% threshold, it’s extremely difficult to discern today.

Autosomal testing will pick up relationships reliably back to about the 6^th or 7^th generations, and sporadically beyond that.

Autosomal testing provides you minimally with two things. First, with a list of “cousin matches” by percentage and estimated relationship. Second, percentages of ethnicity. It’s this second part that’s most important for the person seeking to prove Native American heritage.

Percentages of Ethnicity

As the field of genetic genealogy has moved forward, research has begun to indicate that certain autosomal markers are found in higher or lower frequencies in different ethnic populations.

For example, if someone has the Duffy Null allele, or genetic marker, we know they positively have African admixture. We don’t know how much African admixture, or from which line, or when that individual with African admixture entered their family tree, but we know for sure they existed.

Attempting to determine the population frequency of varying markers and what that means relative to other populations is the key to this analysis. Few markers are simply present or absent in populations, but are found in varying frequencies. Some populations are widely studied in the research literature, and others are virtually untouched. Thousands have only been recently discovered as part of the National Geographic, Genographic project.

The process of compiling this information in a meaningful manner so that it can be analyzed is a formidable task, as the information is often found in nearly inaccessible academic and forensic research publications. It’s difficult to determine sometimes if the DNA analysis of 29 individuals in a small village in northern Italy is, for example, representative of that village as a whole, of northern Italy, or more broadly for all of Italy. Is it representative of Italy today or Italy historically? These and other similar questions have to be answered fully before the data from autosomal testing can be useful and reliable.

Let’s take a look at all 3 of the contemporary autosomal tests and what they have to offer.

Note: as of 2019, MyHeritage is also a major player in the autosomal DNA testing space.

Family Tree DNA

Family Tree DNA sells the Family Finder test. Right now it is priced at $79 or bundled with attractive pricing with either the Y-line or mitochondrial DNA tests. I often like to use this tool in conjunction with the Y-line and mitochondrial DNA tests to see, if you match someone closely, whether you are actually related to them in a recent timeframe or if it is further back. Family Tree DNA is the only one of the autosomal testing companies that has the ability to do this type of advanced comparison. Compared to 23andMe and Geno 2.0, they are the only ones to offer traditional Y-line and mitochondrial DNA testing which provides individual marker results and matches.

In addition to a list of autosomal matches, you will receive your breakdown of ethnicity, by percent. The results below are for the same man with Native ancestry whose Geno 2.0 results are shown in the Geno 2.0 – First Peek blog.

You can read more about the Family Tree DNA autosomal product on their FAQ.

23andMe

Another company that sells autosomal testing is http://www.23andme.com. In addition to a list of cousins, you also receive admixture percentages, and their specialty, health traits. You also receive a paternal and maternal haplogroup, but with no markers for personal comparison. These Y-line and mitochondrial results are not as accurate at the Geno 2.0 nor the Family Tree DNA Y-line and mitochondrial DNA full sequence tests.

Be aware that while people who test at Family Tree DNA are interested in genealogy, the typical person at 23andMe tested for the health portion, not the genealogy portion, and may not answer contact requests or may know very little about their family history.

Right now, their test is $99, and you can download your results and upload them to Family Tree DNA for an additional $89, making the total price similar to the Family Tree DNA test. However, you need to be somewhat technically savvy to complete the download/upload process.

23andMe recently released a new version of their software which added quite a bit of resolution after years of being woefully behind. Native American wasn’t even a category previously.

Ancestry

Ancestry.com recently introduced an autosomal test. You receive matches and ethnicity percentages. However, their ethnicity percentages have significant issues and I would not recommend them at this time. Their cousin matches come with no analysis tools. So for now, just skip Ancestry and concentrate on the other resources.

One Last Autosomal Test

One marker value in particular, known as D9S919 is present in about 30% of the Native people. The value of 9 at this marker is not known to be present in any other ethnic group, so this mutation occurred after the Native people migrated across Beringia into the Americas, but long enough ago to be present in many descendants. You can test this marker individually at Family Tree DNA, which is the only lab that offers this test. If you have the value of 9 at this marker, it confirms Native heritage, but if you don’t carry 9, it does NOT disprove Native heritage. After all, many Native people don’t carry it.

To order this test, for existing Family Tree DNA clients, click on the “Order Upgrade” orange button on the right hand side of your personal page, then on “Advanced Test”, then enter “autosomal” in the drop down box, then you will see the list below. D9S919 is the last one and it costs $15. There may be a $10 one time transfer fee as well if your DNA sample is not in the Houston lab.

Swimming in Many Pools

As you can see there are lots of tools available to you that can be used individually or in conjunction with each other. Like anything else, the more work and effort you are willing to devote to the search, the more likely you are to be successful.

Most people test their Y-line and mitochondrial DNA, not just for Native ancestry, but to learn more about the lines they can test for themselves without reaching out to other family members.

Use your DNA pedigree chart to plan who to ask in your extended family to test for which lines.

Plan to test with multiple autosomal testing companies. Autosomal testing in particular is still in its infancy. I like to use the results of multiple companies, especially when you are dealing with small amounts of admixture. They use different markers, combinations, analysis tools and reference populations, so you can expect slightly different results. One company may pick up slight minority admixture while another may not. This has happened repeatedly with both my Native and African minority admixture.

GedMatch

After you obtain your results from either Family Tree DNA or 23andMe, you’ll want to download your raw data results and then upload the file to www.gedmatch.com. This is a privately run “donation” site, not associated with any of the testing companies, meaning there is no subscription or fee to use the tools, but they do appreciate and are funded by donations.

After uploading your results you can utilize several admixture tools to compare and contrast your results.

Getting Help

If you’re struggling with working through your family possibilities for who to test, I do offer a DNA Test Plan service.

If you would like a Personalized DNA Report for Y-line or mitochondrial results, those are available as well.

If you have what amounts to a quick question that I can answer in less than an hour, including prep, I offer the Quick Consult service.

For more extensive consulting, contact me. You can see my services here.

In Summary

Finding our Native ancestors is a way to pay homage to their lives and to the culture that was stripped from their descendants, ironically, by using their own DNA that has been gifted from them to us. Native people, after contact with Europeans were marginalized, and that’s the best that can be said. Many were killed, either intentionally or by European diseases, or enslaved. The results are that Native people left few if any individual records and those that might be available often can’t be identified or linked to them personally. For those who cannot unearth their Native ancestry using conventional genealogical means, genetic testing is the last hope left. Fortunately, the tools and our knowledge improve every day. We’re making great strides with what we can do, enlarging what was a pinhole into a keyhole, allowing us to peer into the past. So, click your heels, order your tests and let’s see where your DNA takes you.

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I’m Adopted and I Don’t Know Where to Start

Posted on December 17, 2012 by Roberta Estes

This is one of the two most common querys that I receive.

I’ve addressed some of the adoptee resources in a previous blog, but in this one, I’m going to be very specific about which tests do what, what to expect, how to use them, where to purchase the tests and how much they cost in general terms. Remember when reading this, it’s meant as a guideline and you should always check current products and prices before purchasing.

We all begin with genetic genealogy to answer questions, but adoptees have a special circumstance wherein they generally know nothing at all about their birth parents. Today’s query told me that her birth certificate doesn’t even include a race.

First, all adoptees need to read my post on Adoptee Resources. I’m not an expert on how to deal with all of the bureaucratic and paperwork nightmares involved, which of course vary by state, but there are people who specialize in this and they have groups to help. Take advantage of them. Also, throughout the rest of this blog, be sure to click on the links. I’m not restating things that I’ve already covered elsewhere.

Now, let’s look at the 3 kinds of DNA testing that can benefit adoptees and just how they might use the results.

There are three kinds of DNA testing that you can do.

Mitochondrial for your direct maternal line.
Y-line for your direct paternal line – if you are a male. Sorry ladies.
Autosomal to test your ethnic mix and to find cousins related to you on any line.

On a pedigree chart, these genealogical lines look like this:

You can see the path that the Y chromosome takes down the paternal line to the brother and the path the mitochondrial DNA takes down the maternal line to both the brother and the sister. Autosomal tests the DNA of all of the 16 ancestral lines shown here, but in a different sort of way.

Let’s look at each one separately.

Y-Line DNA – For Paternal Line Testing for Males

The Y-line testing tests the Y chromosome which is passed intact from father to son with no DNA from the mother. This is the blue square on the pedigree chart. In this way, it remains the same in each generation, allowing us to compare it to others with a similar surname to see if we are from the same “Smith” family, for example, or to others with different surnames, in the case of adoption. Small mutations do take place and accumulate over time, and we depend on those so that we don’t all “look alike.”

The good news is that using comparison tools, we can determine a genetic surname in about one third of the cases. That’s pretty good odds for someone who started with no information at all.

Looking at the Estes surname project as an example, you can see in this colorized version that there are mutations shown, in color, even within family groups.

You can test at 12, 25, 37, 67 or 111 marker “locations” on the Y chromosome. In order to look for strong results you’re going to need to test at a minimum of 37 markers, preferably 67 or 111. At Family Tree DNA, which is where I recommend that you test, you can always upgrade later, but it’s less expensive in total to test more initially, plus you may well need the information to know who you match at the highest levels. Right now, 37 markers cost $119 and 67 markers are $199, but a sale is currently underway. You can also join the adoptee project to obtain the best pricing by joining a project.

Family Tree DNA also provides significant tools for Y-line DNA as well as Mitochondrial DNA as well. You can see both Family Tree and Ancestry results compared on this blog, which shows you how to use both companies’ tools. At Family Tree DNA, for all their tests, you are provided with the e-mail addresses of your matches. At Ancestry and 23andMe, you contact matches through thier internal message system. My experience has been that direct e-mails have a better response rate.

You can also order a DNA Report from my company, DNAeXplain, or directly from your personal page at Family Tree DNA, if you need assistance understanding either Y-line or mitochondrial DNA results and wringing every possible tidbit from the available tools.

Obviously, the Y-line test is only for males. Ladies, I feel your pain. However, these next tests are for both sexes.

Mitochondrial DNA – For Direct Maternal Line Testing for Both Sexes

Unfortunately, it does not follow any surname. In fact the surname changes with every generation when women marry. This makes it more challenging to work with genealogically, but certainly not impossible. Because of the surname changes in every generation, there are no “surname” projects for mitochondrial DNA, but the Mothers of Acadia project is using mitochondrial DNA to reconstruct the Acadian families.

There are three levels of testing you can take for mitochondrial DNA at Family Tree DNA, which is where I recommend that you test. The mtDNA, the mtDNAPlus and the Full Sequence. The mtDNA test is a starter test that will only leave adoptees needing more. I strongly recommend the full sequence test, but if the budget just won’t allow that, then the mtDNAPlus will do until you can afford to upgrade. Family Tree DNA is the only major lab that tests the full sequence region, plus, they have the largest matching data base in the industry.

To put this in perspective for you, the mtDNA and the mtDNAPlus tests both test about 10% of your mitochondrial DNA and the full sequence test tests all of your 16,569 mitochondrial locations. You can then compare them with other people who have taken any of those 3 tests. For adoptees, you’ll need the power of the full sequence test. Pricing for the mtDNAPlus is currently $139 and the full sequence is $199.

Update: Please note that as of 2019, Family Tree DNA is the only company providing mitochondrial DNA testing and matching. The rest are now obsolete.

If you match someone on either the Y-line or mitochondrial DNA, you may want to do some additional testing to see if you are closely related or if you are related back in time many generations. The good news is that autosomal testing is what you need and there are three autosomal pools to swim in, increasing your chances of a “hit.”

Autosomal Testing – The Rest of the Story – For Both Sexes

If there was a DNA test created for adoptees, this is it. This test can be used alone or in conjunction with the Y-line or mitochondrial DNA testing at Family Tree DNA. They are the only lab to have this advanced matching capability.

So, if you were to take an autosomal test, and another one of your grandparents grandchildren tested, you would match them at some predictable percentage of your DNA. You can see the “cheat-sheet” we use below, courtesy of the ISOGG wiki.

You can see that your grandparents other grandchildren are your first cousins, and you share approximately 12.5% of your autosomal DNA with them. Therefore, if you match someone at 12.5%, you are either first cousins, great-grandchildren/great-grandparents or another relative with 12.5 in their “box” below, as compared to you.

For an adoptee, this is the literal Holy Grail. You can match someone at the 25% level, or even the 50% level. Yes, siblings have found each other this way, although not to misset your expectations, it’s rare. Much more common are matches at smaller percentages, but even so, if you match someone who is cooperative, it’s not too difficult to work with their pedigree chart to get some idea who your parents might be. And even if you can’t figure that out, you know you are biologically related to them, something most adoptees have never experienced before aside from their own children.

The adoptee group and others are working on tools and standard procedures for adoptees, as there are ways to work with this information. I have also blogged about the basics of what autosomal DNA gives you, and how to use it.

There are three testing companies that sell autosomal DNA testing. I strongly suggest that you use all three of them, plus download your results to www.gedmatch.com and learn to use those tools, or work with someone on your behalf.

Family Tree DNA sells the Family Finder test. Right now it is priced at $199 or bundled with attractive pricing with either the Y-line or mitochondrial DNA tests. For adoptees, I often like to use this tool in conjunction with the Y-line and mitochondrial DNA tests to see, if you match someone closely, whether you are actually related to them in a recent timeframe or if it is further back. Autosomal testing will pick up relationships reliably back to about the 6^th or 7^th generations, and sporadically beyond that. In addition to a list of matches, you will receive your breakdown of ethnicity, by percent. The admixture portions are improving, but just use them as a guideline, especially for percentages below 10%, and that goes for all three companies, in general.

Another company that sells autosomal testing is www.23andme.com. In addition to a list of cousins, you also receive admixture percentages, and their specialty, health traits. For adoptees, this may be particularly important as well. Be aware that while people who test at Family Tree DNA are interested in genealogy, the typical person at 23andMe tested for the health portion, not the genealogy portion, and may not answer contact requests or may know very little about their family history. However, that doesn’t negate the possibility that you may find a very close match and you’ll never know if you don’t test. Right now, their test is $99, and you can download your results and upload them to Family Tree DNA for an additional $89, making the total price similar to the Family Tree DNA test. However, you need to be somewhat technically savvy to complete the download/upload process.

The third company is www.ancestry.com. Compared to either Family Tree DNA or 23andMe, their tools are sorely lacking, but they too offer a list of matches and ethnicity. I suggest that you simply ignore their ethnicity calculations at this point in time as they are quite misleading. The good news about Ancestry subscribers, which is who you’ll be matching, is that they too are quite interested in genealogy. Unfortunately, you don’t have the data tools you’ll need to see how you match. Again, that does not negate the importance of a close match, so I recommend fishing in this pool even though it certainly doesn’t stand up to either of the other two companies. Their price fluctuates but is floating someplace around $129. Also be aware to access the full feature set of matches including trees, you will need to subscribe to Ancestry as well in some capacity, so the test price is not the only cost involved. Be sure to read their fine print first.

After you obtain your results from either Family Tree DNA or 23andMe, you’ll want to download your raw data results and then upload the file to www.gedmatch.com. This is “donation” site, meaning there is no subscription or fee to use the tools, but they do appreciate donations. Ancestry does not provide your raw data, but has stated that they will sometime in 2013.

While this suite of tools does not replace that missing information locked away in a file someplace, or worse, it does provide adoptees with hope where none may have existed before. Various kinds of DNA testing can provide answers, and relatives, both close and distant. You can also work with these tools with other adoptees and those who specialize in genetic genealogy to unlock those doors.

Remember, the longest journey begins with a single step. Bon Voyage!

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Geno 2.0 Results – Kicking the Tires

Posted on December 12, 2012 by Roberta Estes

Update: Please note that the Genographic Project discontinued public sales of kits in 2019. I am leaving this article for historical context.

Yesterday, my husband’s Geno 2.0 results arrived. I bought his kit for him for Christmas initially, but couldn’t wait that long so had him swab the very day it arrived. So much for Santa’s surprise. But wait, maybe his results will hold a surprise – and isn’t this the first day of Christmas? Oh, it’s not? Well, I’ve decided to establish a new tradition this year, that it is the first day of Christmas and this year we will simply have 15 days of Christmas. The extra three days will be dedicated to Y-line SNPs, a mitochondrial haplogroup and ethnicity results. Who wants a bird in a pear tree anyway?

Meet Jim. Since you’re going to be looking as his “innards,” so to speak, I think you should formally meet him. Pretty soon you’re going to be wondering what a Neanderthal, Denisovan, German, Greek, Mediterranean Hun looks like. I wanted to use the photo of him kissing the dolphin in the Carribbean, but he wouldn’t let me. Harumph. I guess Huns have no sense of humor.

There’s a lot of information included on the new Genographic results webpage with some very cool features. We’re not going to look at everything in-depth today, but we’ll do a flyover so you can see everything. Right now, because everyone is checking the status of their results, the Genographic webpage is experiencing difficulties. So if you click and wait, well, go get a cup of coffee. It will eventually respond and multiple clicks only cause buffer problems when it does respond. I know this from experience. How many times have I said that patience is not a virtue attributed to me!

Oh yes, and I had much better luck with the webpage using Chrome as opposed to Internet Explorer 7.

The first screen you see is “Your Story.” It’s large so I’ll break it into three parts for review. Notice the 5 tabs at the top of the page. You’ll be using those. Actually, if you follow the story line, the story walks you through them all.

The middle portion of this page shows your mitochondrial DNA, autosomal in the center, followed by your Y-line, if you’re a male. Your haplogroup is displayed as well for mitochondrial, and your terminal SNP for males, which is the SNP that ultimately defines the deepest level of your haplogroup. Well, at least until a new terminal SNP is discovered.

There are a couple of items of note here.

The tab titled “Your Map” simply won’t load, using either browser. I’ve sent a note to National Geographic. I know this is loading for other folks though. I wonder if it has anything to do with Jim’s haplogroup.

Second, for Jim’s paternal line, CTS11962 is a new SNP not previously tested at Family Tree DNA. CTS stands for Chris Tyler-Smith, a researcher in the UK at the Sanger Institute who discovered this particular SNP, and named it.

We knew in advance that the new standard for both the Geno 2.0 and also Family Tree DNA will be to only provide the terminal SNP and no longer rename the haplogroups in the way they used to be, such as R1a or R1b1a2. However, the problem with this approach is that someone looking at this terminal SNP has no reference whatsoever at this point. There isn’t even a “main” haplogroup branch given, nor a link to any explanation, or at least not that I can find.

After transferring Jim’s results to Family Tree DNA, I noticed that he is now labelled R1a1a1g on his Family Tree DNA haplogroup page. It looked like his mitochondrial results didn’t transfer initially, but this morning after the Family Tree DNA webpage update, he does have results on his mtDNA Haplogroup Origins page, which is about all you can do with haplogroup only information. Nat Geo, of course, does not test beyond haplogroup designation for mitochondrial. However, it looks like his autosomal results didn’t transfer anyplace. Hmmm….maybe a bug. I’ll have to contact the helpdesk who is probably swamped this morning.

Looking at his Family Tree DNA Haplogroup and SNPs page, all of the SNPs Jim was tested for at Nat Geo appear to be listed, but CTS11962, his terminal SNP, seems to be missing, so others may be as well. Family Tree DNA updated the data base and web page today, but this didn’t seem to be resolved with the update this morning. It also looks like it might be a page real estate issue in that this section of his page is quite full.

The bottom portion of the introductory Geno 2.0 page provides an interesting tidbit.

Yesterday, when one of my blog followers sent me his initial results, the “you are 1 of” number was 524,384, and that number had been used for some time, so it’s not dynamic. This new number appeared a few hours later, so I’m thinking that the answer to the number of Geno 2.0 kits sold might be someplace in the ballpark of 35,131. Just speculation on my part.

Let’s go back now and look at each section.

The mitochondrial DNA area provides a basic description of the haplogroup’s journey, then you can click to see the map.

Since his map won’t load, taking a look at another account I have access to, we see the following map information.

See the “share” button on the top right hand side of the next page? This allows you to send e-mails or a number of other types of messages to friends with a nice summary page of your results. Be sure to type a message in the message box with your full name because otherwise the recipient will have no idea whose info they are viewing.

Moving to the autosomal section, we see that they have divided the world into 9 regions, plus Neanderthal and Denisovan.

Jim is Mediterranean, Northern European and Southwest Asian. His genealogy is entirely German and Hungarian. He’s a second generation immigrant, so none of his genealogy is lost here in the US. Of course, the term Hungarian should translate into “churning people” because the devastation of multiple wars spanning centuries has disrupted this population significantly. The same holds true for Germany. I would suggest that Germanic and Slavic would perhaps be a better description of his heritage.

In any case, the Mediterranean and Southwest Asian were somewhat of a surprise, but when you look at migration patterns, maybe not so much. After all, we all came through the Middle East on our way out of African and if your ancestors migrated to Germany, they probably went through the Mediterranean unless they went over the Caucus Mountains instead. And that would give you Southwest Asian heritage most likely.

The only problem is, now Jim wants to go on another Mediterranean cruise to commune with his ancestral homeland. DNA cruises anyone???

The next section explains what the results mean. This is actually quite interesting because it compares you to the actual reference population. In his case, in Germany.

His second reference population was somewhat of a surprise. It’s Greek. Perhaps it’s the best reference population they have for “Mediterranean” as the Greeks are truly a mixture of just about everyone in the Mediterranean basin.

They do provide links here to more information. By clicking on the overview of all reference populations, they provide information about how these populations as a whole are made up today.

I counted and there are 43 populations. Another option is to click to review the 9 world regions.

The Neanderthal and Denisovan ancestry is particularly interesting since it has been only recently, in the past couple of years, that humans were believed to have interbred with either group. Neanderthals have been found throughout most of Europe and western Asia, and Denisovans lived in the Altai Mountains of Siberia. If you click on the little links imbedded in many place on your page, you’ll see that there is more information about almost every topic. For example, they tell us that everyone outside of Africa carries some Neanderthal and Denisovan.

On Jim’s Genographic page, the terminal SNP shown is M458, shown below the map. Referring now to the ISOGG Y tree, we see that this equates to haplogroup R1a1a1b1a1. I didn’t expect CTS11962 to be on the ISOGG tree just yet, and it isn’t, but neither is it anyplace else, so we basically have our hands tied relative to where this falls on the R tree until someone places it someplace. I know that there is what is affectionately referred to as the “Big Paper” in the works that reworks the haplotree, and I surely hope it’s published sooner than later. Yes, I know, that patience thing again…..sigh.

You can also view this haplogroup information as a heatmap.

Under the “future” button, they ask you to complete your profile and contribute your story. You may have noticed that these options are stepping you across the tabs at the top of the introductory page.

Under the “Our Story” tab, which is where the “Contribute Your Story” link takes you, they explain about the community and social networking aspects of Geno 2.0.

Most interesting is the relationship circle, which looks like either a 45RPM record, a CD/DVD or the front of an i-pod, depending on your age. The stars and planets are the people who are “related” to you and the larger planets are those with stories attached. You just click on a planet to see their “story.” The closer they are to the center, the more closely related they are to you, but I’m unsure how “related” is gauged. For example if you click on the CTS11962 link, does this mean that everyone carries that mutation, or that it’s the terminal SNP for everyone listed? If it’s the terminal SNP for everyone listed, wouldn’t they all be equally as closely related? Jim’s V link doesn’t work, but the same questions apply.

And at the bottom of this page, you can add your own story.

I understand in the future that one will be able to contact these “related” people. If so, and if they haven’t tested their STR markers or their mitochondrial DNA at Family Tree DNA, we can encourage them, or invite them, to do so.

And speaking of which, the one thing I really DON’T like is what they’ve done with the download to Family Tree DNA option. In Geno 1.0, the transfer option said something like “to learn more,” but was tiny and obscure, at the bottom of a page where you had to scroll multiple times. I’m sure the reason that only 20% of the people ever transferred to Family Tree DNA was because only 20% of the people stumbled across the link and followed it. Actually, the fact that 20% actually found it is pretty amazing and speaks highly of how interested people actually are in the Genographic project and their results. This function and where it’s located is even worse in this version.

To initiate a transfer to Family Tree DNA, first, you have to know that you want to do this. There is no enticing “advertising” or education like there is for other information. This would be a wonderful opportunity for a nice video or at least a writeup and a link that at least says “to learn more” encourages people to investigate. Now, you need to go to your Profile link, and under the profile link, click on the Advanced Options.

Nope, I don’t think even 20% of the people will find this. I’ve very disappointed and hope they will reconsider and rework this option.

I am very hopeful that with some constructive and pleasant feedback that perhaps Nat Geo will reconsider and bring this transfer option into line with the otherwise wonderfully designed and world-class project pages. Their e-mail address is genographic@ngs.org.

Genographic has so much to offer and Family Tree DNA’s customers and project administrators have played a huge role in recruiting for both Geno 1.0 and 2.0. I’d really like to be sure that all Geno 2.0 participants receive everything they can out of the total genetic genealogy and anthropology experience. After all, this is the story of all of us, the human population, and we’re all connected. The only question is how closely we’re related, and when we get close enough in that tree, can we put names and faces on our ancestors, preferably with a few dates and locations as well? Hence, it’s a continuum from anthropology to genealogy. It needs to be a continuum from Nat Geo to FTDNA too.

One thing is for sure, we’re getting closer and closer as we learn more and more. The tools keep improving and one by one, those brick walls are falling.

Well, we’ve kicked the tires a bit and I think this one is a keeper. I think National Geographic has done a wonderful job of making a topic that has become increasingly complex over the past few years understandable to the average citizen who will take this test and look at their results with a sense of adventure and curiosity. The website is beautifully designed. Don’t shortchange yourself by hurrying through and not taking time to look at all of the photos, stories and videos, and be sure to click on the little “i” icon which means more information. There’s a lot here to savor, slowly, like a connoisseur of fine food or a wonderfully spellbinding book.

I think what I’ve decided though, relative to autosomal DNA testing and ethnicity is that there is no one answer, there is really only a matter of degrees. Today, with the different testing companies using different population data references, we receive differing results. I don’t worry too much unless they are significantly different, then I have to scratch my head a bit.

When my own results come back I’ll be doing some comparisons on how minority admixture stacks up using the different autosomal tests and analysis tools available. We kicked the tires today, but soon, we’ll be taking a test drive to see what we can actually do with all of this. So, stay tuned and in the mean time, savor those results! After all, on the first day of Christmas, my true love gave to me, a new SNP on my own family tree.

______________________________________________________________

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Geno 2.0 Results – First Peek

Posted on December 11, 2012 by Roberta Estes

The results for males just started coming in yesterday. One of our blog subscribers was kind enough to allow me to use his results. You’ll notice that there is no identifying information about you on this page, so if you forward this to someone, and that is something you can do, you’ll need to be sure to sign it with your name. It comes as a “no-reply” type of e-mail from National Geographic, not from you.

There’s lots of info provided here. First, you can see how much Neanderthal you carry. Ok, so no more Neanderthal jokes about your brother-in-law.

You can also see the division of your ethnicity. Compared to this person’s Family Finder results, this test seems to be more sensitive, picking up admixture not found in Family Finder. Their Family Finder results were 43% Europe, 5% East Asian (Siberian), 38% Native American and 13% Middle Eastern, rounded to the nearest percent. It looks like the Native American is about the same, the Middle Eastern may be absorbed by Mediterranean or Southwest Asia, and the Sub-Saharan African is new, but accurate according to this person’s genealogy.

The second half of his display shows both the y-line and mitochondrial DNA map along with the migration path for the haplogroup. His mitochondrial DNA is B2g1. This is different from his B2 assigned at Family Tree DNA as a result of the full sequence test. His Y-line is haplogroup Q with a terminal SNP of Z780. He had tested for this SNP at Family Tree DNA also (as well as many others), and was classified as Q1a3.

It’s really exciting to see these results. Of course, now the questions begin, and there are already a lot of them. One of the first is about the ability to upload results to Family Tree DNA. Apparently you cannot do that if you have already SNP tested, have a mitochondrial DNA haplogroup assigned or have taken the Family Finder test. I sincerely hope this is simply a delay in development and that this will be addressed shortly. We need this information on our home pages.

Other questions are about the Y-line SNPs, which SNPs are included, and which aren’t, how to reference a new tree to see where you fit, and how has the tree, either the YCC tree at Family Tree DNA or the ISOGG tree, been shuffled. It’s obvious from seeing results for someone whose terminal SNP has not changed, but whose haplogroup has changed significantly that there has been major surgery to the tree. It’s difficult to figure out quite what you’re seeing at a deeper level.

And for autosomal of course, there are lots of questions about reference populations. Dave Dowell has already pointed out that there is a big discrepancy between his Geno 2.0 autosomal results and the ones returned by 23andMe last week. But 23andMe references 500 years and the Geno 2.0 test is billed as more of an anthropological test, so maybe they are measuring differently. Plus, there are all those new SNPs Nat Geo discovered and is using. I’m sure those are making a big difference too.

It’s been a great week or so for genetic genealogy, but yes, lots more questions than answers, so stay tuned.

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Last Call to Download GeneTree Results

Posted on December 8, 2012 by Roberta Estes

I received this e-mail from GeneTree today. If anyone tested there, and wants their results, now is the time. In fact, it’s now, or until January 1, 2013, when the GeneTree website will be discontinued, or never.

Given their purchase by Ancestry, they are encouraging people to upload their results and Gedcom files to Ancestry.com of course. Not everyone is thrilled about that prospect. If you’re not, then it appears that you can simply download your results for yourself.

Here’s the text of the notification I received today. I find it ironic that they managed to lose my records, saying I never paid the unlock fee to liberate my Sorenson results and connect with others, but they managed to have not one, but two copies of my e-mail address someplace.

Dear GeneTree user,

Time is running out. As you may have heard, GeneTree.com is being discontinued
as of January 1, 2013. Following this date, the GeneTree website will no longer
be functional. So please take a moment to download your DNA results and
pedigree data during the month of December, if you have not already done so.
Once your data has been downloaded, you will be able to import your family tree
GEDCOM files and your DNA results into an Ancestry.com account at no cost. We
hope that you take this opportunity to continue with your family history search
and take your discoveries even further. Please visit the home page of
GeneTree.com for detailed instructions on how to export your data. You can also
find information available at http://www.genetree.com/faq

Thank you,

GeneTree Customer Support

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New Worldview at 23andMe

Posted on December 7, 2012 by Roberta Estes

23andMe released a new version of their Ancestry Composition – and guess what – my Native Ancestry is shown for the first time. Yahoo! It was previously shown at 23andMe as Asian, and the chromosomal locations have changed somewhat as well.

23andMe has greatly improved their product offering, moving from a significantly outdated 3 step ethnicity approach, European, African and Asian, to a multi-tiered, regional platform.

Let’s take a look at what we have today.

Here’s me in my new worldview at 23andMe under the Ancestry Composition tab. The regions where I have ancestry are brightly colored.

Looking at my ethnic breakdown, shown on the right on my page, but shown below here, you can see that I’m 99.4% European, 0.5% Native American and 0.1% unassigned.

The worldwide breakdown into regions is quite interesting as well.

By highlighting any region item, above, it shows you the corresponding region on your worldview, below. Pretty cool.

They’ve updated the Chromosome View as well. Previously, my Chromosome View looked like this:

Now, it looks like this, reflecting the new regional ethnicity information.

Another setting that you can manipulate is found in the drop down box in the upper right corner. It has 3 options, standard estimate, conservative estimate and speculative. In my case, this changes the results very little, the Native moving around a bit, but the regions within Europe do change. Be sure to take a look at all of these. The drop down box is easy to miss.

One thing I do really like about this new rollout is that the X chromosome is included. You can see it at the bottom of the list. This is new and has been promised for a long time.

One feature that I would very much like to see is the ability to determine which, if any, of my matches actually match me on the segments determined to be Native American. I realize that not everyone at 23andMe is interested in genealogy, but if you could contact them and say, “Hey, we match on my Native segment – let’s see if we can find some common ancestry,” it might generate enough interest to garner a response. I would like to find a way to use these results more effectively. I think there is a lot of unrecognized potential just waiting to be harvested.

All in all, a significant step forward for 23andMe. For me, not a lot of new information. I discovered that I have some Native genes on chromosome 2 in addition to chromosome 1. My African ancestry picked up elsewhere is missing here. Fortunately, my Native American heritage is now classified as such, and not Asian. However, on the speculative view, I still have a smidgen of Asian, likely from the Native American heritage. I really like the 3 choices in how to display results, conservative, standard and speculative.

As soon as the National Geographic Geno 2.0 ethnicity information is available, I’ll be comparing all the results from the various companies against my known genealogical heritage and taking a look at all of those results combined. Stay tuned….things are really getting interesting!

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News From National Geographic

Posted on December 5, 2012 by Roberta Estes

National Geographic released some additional information today about both Version 1.0 and the new Version 2.0 of its tests and the program as a whole.

Phase 1 – Geno 1.0

“Our first phase drew participation from more than a half-million participants from over 130 countries. It is evidence of enormous interest in deep ancestry among the global public — tracing the paths their ancestors took as they migrated around the world over the past 60,000 years,” said Project Director Dr. Spencer Wells, a population geneticist and National Geographic Explorer-in-Residence. “Now, the Genographic Project’s second phase creates an even greater citizen science opportunity — and the more people who participate, the more our scientific knowledge will grow.”

During Genographic’s first phase, Wells and project scientists traveled the globe to collaborate with tens of thousands of indigenous people, whose genetics are particularly significant in determining human migratory routes. Wells and Pierre Zalloua, principal investigator in the Middle East, for example, collaborated with the Toubou people of northern Chad, whose DNA has revealed insights into ancient migrations across the Sahara. Genographic’s principal investigator in the Oceana region, Lisa Matisoo-Smith, worked intensively with people on the remote south Pacific island of Emirau, collecting DNA samples and sharing the results with them.

The Genographic Project team worked with individuals, institutions and organizations all over the world to find and tell their genetic stories, including the prime minister of Kazakhstan, who invited Wells and his colleagues to collect DNA samples in his country after becoming fascinated with his family story as revealed by his Genographic kit results; the people of Barbados, who requested a study on the pattern of diversity in the country using the public participation kits; and members of the public in South Africa, who learned that they carry links to the region’s earliest inhabitants, the San people, in addition to genetic lineages from elsewhere in Africa, India and Europe.

The project also tested 200 random people on a single day on a block of Queens, New York, to demonstrate the area’s diversity. In a collaboration with cellist Yo-Yo Ma’s multidisciplinary education foundation The Silk Road Project, more than 400 students at four New York City public schools swabbed their cheeks and traced their ancient ancestry.

Geno 2.0 – New Interface

National Geographic says that participants will receive their results through a newly designed, multi-platform Web experience. In addition to full visualizations of their migratory path and regional affiliations, participants can share information on their genealogy to inform scientists about recent migratory events. These stories also can be shared with the broader Genographic Project community; as the number of contributions grows, the experience will become richer, as participants learn more about themselves and their shared ancestry. Results also can be shared as an infographic for social platforms.

Scientific Papers Published

Seven years into this project, benefits are being reaped at unprecedented levels. Already, project results have led to the publication of 35 scientific papers, reporting results such as the origin of Caucasian languages, the early routes of migrations out of Africa, the footprint of the Phoenicians in the Mediterranean, the genetic impact of the Crusades and the genetic origins of the Romanian royal dynasty that included Vlad the Impaler. The project’s DNA results and analysis are stored in a database that is the largest collection of human anthropological genetic information ever assembled.

“The Genographic Project truly represents another facet of a new age of exploration. The newest Genographic technology will push the limits of our research, inspiring us to learn more about ourselves and leveraging the insights gleaned so far to take citizen science and genetic testing to a whole new level,” said Terry Garcia, executive vice president of Mission Programs at National Geographic.

New Grants Available

New to the second phase of Genographic, the project will invite applications for grants from researchers around the world for projects studying the history of the human species. Sample research topics could include the origin and spread of the Indo-European languages, genetic insights into regions of high linguistic diversity such as Papua New Guinea, the number and routes of migrations out of Africa, the origin of the Inca or the genetic impact of the spread of maize agriculture in the Americas.

While this press release does not mention it specifically, my understanding from previous discussions with Spencer Wells suggested that this would not be limited solely to academic researchers and that project administrators and citizen scientists’ applications would be considered as well.

Legacy Fund

Geno 2.0 continues the tradition of the Legacy Fund, established 7 years ago with the first tests. A portion of the proceeds from the sale of Genographic Participation Kits funds project research and the Genographic Legacy Fund, which awards grants to support community-led cultural conservation and revitalization initiatives among indigenous and traditional communities around the world. So far, the Genographic Project has provided 62 Legacy Fund grants worth $1.7 million. Efforts supported by the grants include the creation of teaching materials on the ancient wisdom of the Chuj in a Maya community in Guatemala and the revitalization of indigenous languages in Nepal, India, Taiwan, French Polynesia, Mexico and Bolivia.

New Education Initiative – GenoThreads

A new education program called GenoThreads enables science, culture and geography to be naturally woven into a shared educational experience. GenoThreads connects students and teachers around the world who are using Genographic participation kits; this allows a cross-cultural exchange between students via email and videoconference for a truly global experience. In the first GenoThreads project, high school students in Switzerland are sharing their results with those halfway across the world in Singapore.

New Website

Members of the public are encouraged to visit the Genographic Project’s newly created website at www.genographic.com. Featuring National Geographic photography, as does this blog today, the website gives Genographic participants the opportunity to learn more about their own ancestry and find ancestral connections. The Genographic Project remains nonmedical and nonprofit, and all analysis results are placed in the public domain following scientific publication. The Genographic Project serves as an unprecedented resource for geneticists, historians, anthropologists and citizen scientists.

Excitement Surrounding Geno 2.0 Tests

There is a lot of excitement about the new Geno 2.0 tests in the genetic genealogy community, and more than a little restless shuffling of feet. Genetic genealogists are not a patient lot, albeit from the best of motives.

We want to see our results, sooner than later, and we want to play with them. We want to upload them to Family Tree DNA and have them integrated with the rest of our DNA tests and information, available to use – one stop shopping. We want to download them to our computers and use them in a myriad of ways. We want to see if we gained branches, or twigs, on our haplotrees.

We want to see who we connect to, and how closely. We want to ping our anthropological neighbors on the new website and invite them to download their information to Family Tree DNA as well. We want more project members. We want matches where we have none and more where we have some.

We want to know if we are Neanderthal or Denisovian, and how much. We wonder if our minority admixture, whatever it is, will be revealed or if it’s too far back in time. And on a research level, we want to know which populations were used, which new autosomal SNPs were discovered, and the frequencies they are found worldwide. I know, we want, we want, we want.

Exciting tidbits arrive periodically, whetting our appetite. We already knew that the Y-tree had to be rebuilt during vetting of the Geno 2.0 chip, but more recently, it appears that perhaps the tree is being reorganized, again, already, with the first run of data. Such conflicted feelings. So glad such wonderful discoveries are being made, but so impatient to see what they are. And that’s the whole lot of us, not just a few:)

Good thing it’s December…looks like Santa has a big wish list from us to fulfill and National Geographic, indeed, is going to be one of Santa’s biggest helpers! Now if they could just HURRY:) Maybe we should add a dose of patience to the things we want……Nah. I just hope lots and lots of other people want this too!!!

All photos are copyright protected by the National Geographic Society and used with their permission.

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little a, BIG A, Mitochondrial DNA

Posted on December 2, 2012 by Roberta Estes

During my webinars this week for APG, someone asked a question about mitochondrial DNA and I told them I would follow up on my blog. I thought I knew the answer, but I needed to be sure.

When I displayed the slide of my full sequence in the RSRS format, they noticed some of the letters were lower case. Truthfully, since client comparisons are still in the CRS format, I hadn’t paid a lot of attention to my RSRS values except for an initial look-see when the corresponding paper came out (“A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root”) and the RSRS results were added to our personal page information. I know, my bad.

In my blogs titled Citizen Science, the CRS and the RSRS and What Happened to My Mitochondrial DNA?, I explained about the CRS and the RSRS. In a nutshell, the RSRS, the Reconstructed Sapiens Reference Sequence is the new way of interpreting mitochondrial results, comparing them to a “reconstructed” Eve instead of someone who tested in Cambridge in 1981. That 1981 person set the standard for the CRS, or Cambridge Reference Sequence.

But soon, we will be using the RSRS. My understanding is that the Geno 2.0 results, although only providing the haplogroup defining mutations, will be given in RSRS format.

So let’s take a look at what this person saw that caused a question.

In the last mutation in the coding region, all the way at the end, you see that a mutation is noted as C15452a.

Now let’s take a look at the CRS version.

You see the same mutation, but it’s noted differently, as 15452A.

What is the difference, or maybe better asked, why the difference?

On the CRS page, the mutations are shown, as above, but there is also a second part of that page, shown below.

On this second part of the results, the normal value in the CRS, and the value carried by the person with the mutation in 1981, is shown. So this is a translation table for your results. You can see that it shows that the CRS value for location 15452 is normally C and my value is an A.

What are those Cs and As? Or for that matter the other two letters, T and G? Well, referring to Tuesday’s introduction class, these are the 4 base nucleotides that make up the “rungs” in the DNA double helix ladder.

T, A, C and G are short for Adenine, Cytosine, Thymine and Guanine. You can see these nucleotides as they each make up half of the connection between opposite sides of the double helix as it uncoils. Normally, a T is paired with a C and the A is paired with the G. However, not always. When a mutation happens, sometimes the pairing is inverted and a C gets paired with an A or a T gets paired with a G.

When a typical mutation happens, meaning T/C and A/G, it’s called a transition. When a more unusual mutation happens, meaning C/A, A/C, G/T and T/G, it’s called a transversion. I think this is what I said the other night, but given how often I use these terms, which is almost never, it would have been easy to get them switched.

I know, by now you’re VERY sorry you asked aren’t you:)

But we’re not quite to the answer yet, so please, bear with me and read on. Remember, this could qualify you to win the new Genetic Genealogy Trivial Pursuit game whenever that version emerges. We are almost to the punch line….

In order to make life easier and to eliminate the need for a translation table, the new RSRS refers to mutations a little differently. You’ve guessed by now, haven’t you. Yep, you’re right, my mutation shown as C15452a has its own translation table built right in. The mutation location is 15452. The normal value, meaning the one Eve had (RSRS), as well as the CRS, was a C. However, my value is an A, but since it’s a little a, we know that this is a transversion, not a transition. You can see another transversion at my location 825.

Why is this important in genetic genealogy? It’s not, really, because it’s already taken care of for you. If someone else has a value there of C15452T, they simply won’t be shown as a match to me with my value of C15424a. So you don’t have to figure this out, it’s taken care of for you in the matching routine. But hey, you wanted to know, and now you do. Good eye for the catch!

You can read more about the RSRS in the paper by Dr. Behar et al, “A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root” or by visiting the website mtDNA Community launched in conjunction with the paper. And if you’re really a glutton for punishment, check page 677 in the paper for more about different notations and what they mean for mitochondrial DNA. There is more than just T, A, C and G for inquiring minds that want to know!

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Gene by Gene Announces Landmark DNA DTC Full Genome Sequence

Posted on November 30, 2012 by Roberta Estes

Gene by Gene, the parent company of Family Tree DNA, formally announced it’s direct to consumer (DTC) offering of full sequence human genome testing.

Testing will be performed in their state of the art research center, shown above, in Houston, Texas. You can read more about Gene by Gene and their 4 divisions, DNA DTC, Family Tree DNA, DNA Traits and DNA Findings at www.genebygene.com.

Family Tree DNA was established 12 years ago to service the Genetic Genealogy market space, which didn’t yet exist at that time. Family Tree DNA was an innovator in that field, and has brought the same innovative and entrepreneurial spirit to their other companies established since.

This new offering, the first of it’s kind, reaches out to researchers and others in need of “research only” next generation full genomic sequencing.

“Given the explosive demand for accurate, timely, and large-scale next
generation sequencing, we’re pleased to make our Genomics Research Center
available to investigators exploring the cutting edge of research to pioneer and
enhance treatment of disease, enhance quality of life, break new ground in
genealogical inquiry and otherwise advance the science of genomics,” Gene By
Gene President Bennett Greenspan said. “The launch of DNA DTC is the perfect
complement to our other divisions, through which we make genetic testing
advances every day in the fields of ancestry, health and relationship testing.”

Using the Illumina platform, DNA DTC will offer both full genomic sequence and full exome testing, adding these two items to their menu of over 200 types of DNA tests performed. Gene by Gene’s lab has already processed more than 5 million discrete DNA tests for more than 700,000 individual clients. Their institutional clients include the National Geographic Society’s Genographic project and other clients such as France’s Institut Pasteur, Israel’s Rabin Medical Center and the University of Utah.

By bringing full genomic sequencing to the public, they have broken the sound barrier in personal genetics, the veritable X-factor. The full humane genome was first sequenced in 2003 at a cost of about 3 billion dollars.

A full genome sequence still cost about 3 million in 2007, but DNA DTC is offering it today for an amazing $5495.

While consumers will be able to order the full genome (or exome) test, if they want, it comes with no tools, as it is focused at the research community who would be expected to have their own analytical tools. However, genetic genealogists being who and what they are, I don’t expect the research market will outweigh the consumer market for long, especially when the price threshold reaches about $1000. For years the “$1000 genome” has been bantered about, and I expect with the next generation of technology, we may see it sooner than later. The fact that it has dropped from 3 million to $5495 in 5 years is astounding.

Aside from DNA DTC and Family Tree DNA, the other two Gene by Gene divisions are DNA Traits (www.dnatraits.com) which provides CLIA Regulated Diagnostic tests for genetic diseases and DNA Findings (www.dnafindings.com) which provides AABB certified paternity and relationship testing.

Way to go Max and Bennett and everyone at Gene by Gene! Congratulations!

So, who is going to be the first in the genetic genealogy community to order this test???

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Averages, TIP Calculator and One Size Fits All

Posted on November 29, 2012 by Roberta Estes

Averages. We all know what that means, conceptually. You add a group of numbers together and divide by the total of the numbers you added together. For example, 9 number locations that have a value of 10 each totals 90. If you divide 90 by the number of number locations, 9, you get 10 as the average. Of course, that’s a very simple example, but the concept applies no matter how many number locations or how big or small the numbers.

Often, we don’t grasp a good working knowledge of how to apply that math concept as it relates to our DNA results.

What I’m referring to here is the TIP calculator provided by Family Tree DNA, but this concept applies equally as well to any TMRCA (Time to Most Recent Common Ancestor) calculation, regardless of who is calculating it. The underpinnings, are, by necessity, the same.

At Family Tree DNA, the TIP calculator, the little orange button above, is available to you to compare Y-line results to matches and it will give you a rough idea of how long ago you can expect to have a common ancestor.

One of the most common questions I receive reads something like this:

“The TIP calculator says that we should be related at 99% within 12 generations, but my genealogy shows that it should be 8 generations. What is wrong?”

Or something like this: “The TIP calculator says we are related, but I have no idea how to interpret any of these numbers.”

The answer is that nothing is wrong and these are ranges of possibilities, based on average mutation rates of individual markers. Having said that, we know absolutely that mutations are random events. You can see this demonstrated in the Estes project where Abraham Estes (born 1647) who had 12 sons produced one line who has several people with no mutations as compared to Abraham, and another descendant whose line from another son has 8 mutations in the same timeframe. Now it’s obvious that both of these are on the outer bands of the spectrum, and the average is 4, which really is not reflective of either of these lines, but is dead center accurate for two of Abraham’s other sons’ lines.

Recently, I was working with the Nemaha Half-Breed Allottee, a list of names of mixed European/Native American individuals who received individual land allotments in 1860 in Nebraska from the government as a result of an 1830 treaty. When analyzing the 365 people who had European names, I realized that this is the perfect example of averages and how they do, and don’t, work. So let’s visit the Nemaha for a minute.

There are 122 different surnames represented, and the average then is that 2.99 people should carry each surname. 365 divided by 122=2.99. So let’s say 3 people, as it’s very close.

In reality, here’s how the surname distribution breaks down.

Number of People Carrying Surname	Number of Surnames
1	54
2	18
3	10
4	12
5	8
6	6
7	4
8	3
9	2
10	0
11	1
12	0
13	0
14	0
15	1
16	0
17	0
18	1

You can see that only 10 surnames actually have 3 people who carry them, for a total of 30 people, or about 12%. For the remainder, 90 surnames have fewer than 3 people, for a total of 25%, and 63% of the surnames have more than 3 people who carry that surname.

Stated a little differently, this average is accurate for 12% of the people, and inaccurate for 88%. It is close for many. About 23% fall directly on either side, meaning 2 people or 4 people carry that surname.

So what is the message here? Averaging tools, TIP included, do the best with what they have, which includes results at both ends of the spectrum. In this case, it includes the 54 surnames with only one person each, and the 3 surnames who each have over 10 people each, 11, 15 and 18, totaling 44 people. If these people were trying to make sense of these averages, 3 people per surname, these numbers would be totally irrelevant to them.

So the lesson here is to use these tools as a guideline, and nothing more. You could be in the middle and these tools could apply to your family exactly, or you could be in the family who has 18 people carrying one surname instead of the “average” of 3.

This reminds me very much of the ‘one size fits all” nightshirt that got passed around for some years at home when I was a kid. “One size fits all” really meant “fits no one” and translated into “no one was happy.” Of course, if you don’t understand the meaning of “one size fits all” and averages, you might be happy and think you have an answer that you don’t.