Applying DNA Studies to Family History: The Melungeon Mystery Solved

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Wayne Winkler, Jack Goins (pictured above) and Roberta Estes were honored to be able to present and record the first, and possibly the only, comprehensive Melungeon-focused series that includes an introduction to Melungeons, their history and heritage, their migrations and the results of the landmark DNA study, Melungeons, A Multi-Ethnic Population.

The Allen County Public Library, in Fort Wayne, Indiana is a leader in genealogical research and also in the preservation of history.  Their facility includes a state-of-the art auditorium and television studio.  They tape many shows there and now, we’re proud to say, our series will be added to their catalog of free videos available online.  We will provide the links when they become available.

These presentations were really the culmination of decades of work.  The icing on the cake is the DNA study that has clarified the history of the Melungeon people and the core families.

Roberta began the day with an Intro to DNA and Genetic Genealogy explaining how DNA for genealogy works.  This session is always popular, and this event was no exception.  Roberta uses her own family pedigree chart as an example and nearly always meets a new cousin or two.  There are lots of DNA tools in the genealogists tool box, more now than ever.

Wayne Winkler’s presentation, The Melungeons: Sons and Daughters of the Legend provided an overview of the mysterious mixed-ethnic population first documented in northeast Tennessee and southwest Virginia in the early 19th century.  Wayne is extremely well-spoken, and even though I’ve heard him before, I’m always caught up in the spell he weaves.  Wayne’s book, Walking Toward the Sunset, The Melungeons of Appalachia goes a bit deeper than his presentation, so I would encourage everyone interested in an accurate overview of this topic to read his book.

Jack Goins’ session began the afternoon.  How fitting that Jack is the Hawkins County, Tennessee archivist.  His presentation, Examining our Melungeon Neighborhood and Migrations, tracked the original Hawkins County Melungeon families backwards in time, through the New River area, through the Flat River area and back into Louisa County in the mid-1700s.  Indeed, this core group was there, together, before migrating in steps towards Newman’s Ridge.  Jack’s photos of the actual locations bring them to life.  Jack’s most recent book, Melungeons: Footprints from the Past was published in 2009 and details the history, with source documentation, of the Melungeons, beginning in Hancock and Hawkins Counties in Tennessee.  This is a must read for anyone researching Melungeon families.

The final presentation of the day was given by Roberta Estes, taken from the academic paper recently published in the Journal of Genetic Genealogy, Melungeons, A Multi-Ethnic Population. Roberta, Jack Goins, Janet Crain and Penny Ferguson co-authored the paper.  This paper uses the genetic genealogy information from participants in the Melungeon DNA projects to paint a fuller picture of the Melungeon core families, and therefore, of the Melungeon population as a whole.  The Melungeon core families, as identified by their paternal (surname) lines include European and African progenitors, about half and half.  All maternal lines tested have been European.  There was no direct paternal or maternal Native American heritage found, as had been expected, but there are two lines that are ancestors to the Melungeon families that include Native lines. It’s also of interest that all of the African lines, except one, are found together in Louisa County, Virginia, but the Native lines don’t enter the pedigree chart until later, on subsequent steps of the migration to Tennessee.

Roberta and Jack would like to stress that the DNA project is ongoing and people connected to these families are encouraged to join.  Questions? – Contact Jack at jgoins@usit.net.

Following the presentations, the speakers answered questions and had a book signing.

Several people had questions about DNA and how to use their results to discern things like ethnicity.  One very nice gentleman, Gary, offered to be a guinea pig, so indeed Roberta took him up on his offer and performed a somewhat impromptu DNA analysis.  This gentleman had an African paternal line from Cameroon, but a quite rare maternal European line.  Both his paternal and maternal lines had been enslaved, so indeed, the European maternal heritage was a very unexpected result.  His autosomal test results showed that he was about half European and about half African.  Roberta’s business, DNAexplain, includes writing Personalized DNA Reports for customers.

Following the sessions, each speaker was asked what they believe were the salient points of the sessions and the project as a whole.

Wayne said that he “thinks the most important aspect of the presentations was that we now have data giving us a piece of the genetic portrait of the “core” group that settled in Hawkins/Hancock County in the early 19th century. It’s not the whole story, not the “final” word on the subject. In fact, it’s really the FIRST solid genetic data we have on these folks. Too many people think that the genetic profile of the Melungeons has already been documented, but that’s not the case. Thanks to the seven-year effort by Roberta, Jack, Janet, and Penny, we now have dependable, factual information about who our ancestors were.”

Jack said, “what is very important or noticeable to me is examining events in our history like the illegal voting trials for this example.  All of the Melungeon men tried had African paternal heritage, except possibly one who took his mother’s surname.  Three of the Collins were brothers, sons of old Benjamin and Zachariah and his brother Lewis.”  Jack told me that when he saw the record, in the archives, that Vardy Collins had paid the fine for illegal voting, instead of fighting the allegation, he knew in his heart that we would likely find African heritage.

I know that the results of the DNA study have disappointed a few people who were hoping for Native American results.  Some of the news reporting has, unfortunately, fanned those flames by what I would characterize as “race baiting.”  As authors and interviewees, we are not afforded the opportunity of reviewing the articles or interviews before they are either published or broadcast.

The Melungeon study and the study of genetic genealogy isn’t about race – it’s about heritage.  It’s about allowing your ancestors to reach forward in time to you with the truth that only their DNA can reveal.  Allow yourself to hear their whispers.  It’s their gift to you.  It’s about honoring those ancestors, the experiences they had, the trials they endured, all of which, combine to make you who you are today.  It’s about using DNA as the tool to raise the veil that covers the distant past.  To want them to be something they were not is to dishonor who they were.

We would like to thank the Allen County Public Library for their hospitality.  I would like to thank the other two speakers for volunteering to do this presentation.  It means a full day’s drive for both Wayne and Jack, each way.  We all volunteered our time so that this important information can be preserved for future generations.  We also want to thank all of the Melungeon descendants who have joined the projects and contributed their genealogy information.

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Disclosure

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

Thank you so much.

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Where is my Haplogroup From?

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This is a very common question.  The answer can be as simple as a Wiki search, or a little more complex, but offering a much more personal answer.

First, if you have not joined a haplogroup project relevant to your haplogroup, do so.  This applies to both Y-line and mitochondrial results.

We discussed how to do this in the “What Project do I Join?” post.

Joining haplogroup projects does two things.  First, it provides you with a group of “like people,” who have common ancestors with yours.  Second, it provides the project administrators with DNA sequences to work with.  It’s that “working with” part that will play an important part in the answer to this question.

If you’ve already looked at Wiki, and you’re ready for more, you can take a look at your personal page.  At Family Tree DNA, both the Y-line and mtDNA have a haplogroup Migration Map option.

Clicking on this option shows you the migration map for your haplogroup.

Clicking on the Haplotree option, and scrolling to the bottom, you’ll see a link for the Haplogroup FAQ, right under the “about my haplogroup” verbiage.  The FAQ holds lots of information about haplogroups, how they are determined and such.

For Ancestry customers, your haplogroup description is at the top of the “View Results” page.

Clicking on the “learn more” provides you with an additional paragraph or so.

Note: Ancestry no longer has Y or mitochondrial DNA testing at all.

Ancestry does not have haplogroup projects, SNP testing, or additional haplogroup tools, so the rest of this will refer only to Family Tree DNA clients.

Let’s now turn to the haplogroup projects.  The most personal answer to the question, “where did my haplogroup come from” will come from within haplogroup projects.

How haplogroup administrators handle projects varies, based on their level of involvement, interest and experience of the administrator or administrators.  And remember, we are all volunteers.  Having said that, these people do an amazing and incredible job.

Family Tree DNA provides a mapping function, for free, along with their other project administration tools, for haplogroup projects.  If a project doesn’t have a map available, then it’s because the administrator chose not to opt for the map when setting up the project.

I’m using the haplogroup R1a1a project as an example.  It’s well organized, grouped by haplogroup and many people fall into this haplogroup.   The various options for viewing haplogroup projects are listed on the top bar within the project.

Clicking on the “classic” options shows you the various groups that the administrator has created, and how they have grouped individuals within the project.

By searching for you kit number, you can find the group you’ve been assigned to.  Note that if the project extends over more than one display page, you may need to search on subsequent pages as well. You can also change the number of results displayed per page in the “page size” box at the top.

Depending on the project, administrators group participants differently.  Some projects group people by geographic location.  Most Y-line projects group them by haplogroup subgroup, or SNP, plus groups of STR markers within SNP groups.  The SNP (single nucleotide polymorphism) is the location that is tested to see if you are a member of a haplogroup, or haplogroup subgroup.  Your terminal SNP is the one furthest down on the tree that provides you with the most resolution as to where your ancestors were located.  Your individual markers further refine SNP groupings.

Let’s look at the maps.

Projects have the option of displaying the location of the oldest ancestor.  Of course, this means that each participant will need to have entered the geographic location of their oldest ancestor on the Migrations Maps tab on their personal page.  This is critically important for haplogroup project mapping, because without the locations of oldest ancestors, there is no way for your results to appear on the map.

To see all of the project participants on a map, click on “Map” and then in the dropdown box, select “all.”

In the R1a1a project, the “all” selection shows the following map.  This is the answer to the question “where did my haplogroup come from.”

However, a much more personal answer to that question lies in the subgroups.  The haplogroup R1a1a project has grouped participants by SNPs and has given the resulting clusters identification names.  Let’s assume that your kit is listed in the group A1 which they’ve defined as Z283+, M458+, L260+ and named the “West Slavic Subcluster ‘A’” – all listed in the group title for this subgroup on the map selection.  The numbers, Z283+ indicate the SNP name and the plus or minus indicates that the people in the group have tested that location, and if they have it (+) or not (-).  If the administrator does not clearly define how they’ve identified the subgroups, then you’ll have to contact them directly.  Every administrator runs their project differently.

The map for this subgroup clearly shows where these participants’ ancestors are found. If you are in this group, this means that these people share a common haplogroup ancestor with you, some hundreds to thousands of years ago, depending on the haplogroup subgroup age.  This is the personal level of the answer to the question “where did my haplogroup come from.”

I hope this has given you several different methods to answer the question, “where did my haplogroup come from?”

I also answer this question for clients, in context of their own ancestry and family history, when writing their Personal DNA Reports.

This is a companion article to “To SNP or not to SNP.”

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Disclosure

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

Thank you so much.

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What Does MCRA (MRCA) Really Mean??

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The MCRA or time to the Most Recent Common Ancestor is a calculation provided by both Family Tree DNA and Ancestry.com for their clients who have taken the Y-line DNA tests.  This is also written MRCA, Most Recent Common Ancestor, MCA and all of the above prefaced with a T meaning “time to”.  Regardless of which way you see this acronym, it means the same thing – the closest ancestor you share with someone in the DNA line being tested.

I have a great example of how this actually translates into reality using the results from both companies.

Often, I receive communications from people who say something like this:

“It says that I’m related to John Doe within 6 generations.  I have both of our genealogies to 6 generations, and I can’t find our common ancestor.  What is wrong?”

The answer to “What is wrong?” is easy.  The person doesn’t understand what the tool that estimates MCRA is telling them.  And, I’m betting they didn’t read the instructions and explanations either, that is if they tested at Family Tree DNA who provides such.

Family Tree DNA provides a great deal more information and a far more robust tool than Ancestry.  Family Tree DNA begins with this information:

“The probability that John Doe and William Doe shared a common ancestor within the last X generations…”  The number of generations and the percentage probability are shown below.

You can also change the generational display.  I changed mine to “every generation.”

This is followed by an explanation and instructions for how to refine the calculations:

Refine your results with paper trail input

However, these results can be refined if their paper trail indicates that no common ancestor between John Doe and William Doe could have lived in a certain number of past generations.

If you don’t know this information for a fact, do not change the “1” in the box in the next paragraph. However, if you have the information, please enter in the box and click on the recalculate button.

John Doe and William Doe did not share a common ancestor more recently than 1 generation(s). (Because the important factor in calculating the time to the Most Recent Common Ancestor is the number of generations between which mutations could take place, the number of years per generation is irrelevant in FTDNATiP™ calculations).

After that, additional explanation and a reference to a FAQ sheet:

* The FTDNATiP™ results are based on the mutation rate study presented during the 1st International Conference on Genetic Genealogy, on Oct. 30, 2004. The above probabilities take into consideration the mutation rates for each individual marker being compared.

Since each marker has a different mutation rate, identical Genetic Distances will not necessarily yield the same probabilities. In other words, even though John Doe has a Genetic Distance‡ of 4 from William Doe, someone else with the same Genetic Distance may have different probabilities, because the distance of 4 was prompted by mutations in different markers, with different mutation rates.

‡Note: The Genetic Distance is the count of the total difference between two individuals. For example, if a marker differs by 2, then the Genetic Distance will count this as a distance of 2.

More questions? Please refer to the FTDNATiP™ FAQ page.

This is a huge difference compared to Ancestry who only gives you a number with absolutely no explanation at all:

The MCRA is the small number beside the name – so John Doe is an MCRA of 2 and William is 24.  I have highlighted these in red below so that you can see them.

Here is the explanation the Ancestry which is followed by the match table.

“You could be close to a meaningful family connection! The list below is sorted by how close your DNA matches (MRCA). The closest matches are at the top.”

Real Life Example

Ok, but what does all this really mean, in real life, to me?

Fortunately, I have a client who has tested at both locations, and has another man who he matches both at Ancestry and at Family Tree DNA.  In addition, we know who their common ancestor is, and we can use this information to compare the accuracy and usefulness of the MCRA calculations.

At Ancestry, these men have tested 34 markers in common and have 4 mutations difference.  Ancestry calls this relationship a distant match at 24 generations to the most common recent ancestor (MCRA).

At Family Tree DNA, they have tested 37 markers in common and have 4 mutations.  Family Tree DNA, without refining the MCRA with the paper trail, calls this as the 50th percentile at 11 generations.  This means that there is a 50% chance that you have a common ancestor within 11 generations.  I use the 50th percentile number because that is the “most likely” spot – meaning that it’s equally likely that your ancestor was closer generationally or further away.

We know that these men are at 8 generations to a common ancestor for one man and 7 generations for the other.

Checking Family Tree DNA’s chart for 7 and 8 generations, that percentage or probability is 20% and 27% respectively.

Interestingly enough, Family Tree DNA says that at 24 generations, which was Ancestry’s estimated number of generations, there is a 97+% likihood that indeed they have a common ancestor.

So what we’ve learned is that Ancestry, aside from providing no tools or explanation, is very, very conservative.  In this case, the number they give you is more likely their 100% sure number, not their “most likely” 50th percentile number.  In fact, if we divide their number in half, it’s still high.

We’ve learned that Family Tree DNA’s 50th percentile is much closer to reality, even without any tweaking that you can do based on known pedigree charts.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Jewish Voice Interview with Bennett Greenspan

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Bennett Greenspan recently appeared on Jewish Voice.  He gave a wonderful interview that addressed far more than Jewish interests.  He speaks about Jewish ancestry and testing, population genetics, autosomal DNA testing and sample populations.  There are also great shots of sequencing equipment and other DNA test paraphernalia.  And love the tie:)

This is an excellent basics primer that everyone can understand.  The consummate “elevator pitch.”  Genetic genealogy isn’t that easy to explain, but he did a great job.  Granted, he did have a little more time than an elevator ride.

Always the businessman, Bennett brought the host, Rabbi Jonathan Bernis, a test kit and he swabbed on the show as well!  Enjoy!

http://www.itbn.org/index/detail/lib/Networks/sublib/TBN/ec/VsYWNlNTrw98zu18Se-C_nktOBEq4fVY

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

What the Heck is WTY?

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Update: The WTY has been superceded by the Big Y test, but I’m leaving this article for historical continuity.

What the heck is WTY….and why do I care?

One of the reasons I started a blog is to continue what I do for my clients when I write their DNA reports. I make DNA understandable and fun for the normal air-breathing genealogist.

The past few days has been a whirlwind of information and announcements, some which tend to leave folks who don’t have a lot of experience in the dust.

For that, I do apologize.  However, I’d like to tackle a much easier topic now, and that’s the WTY test.  What is it and why is it so important?

WTY is short for Walk the Y, as in walk down the Y chromosome.

The tests we all order and love, at Family Tree DNA, that would be the 12, 25, 37, 67 and 111 marker tests, tell us about genealogy – who we are related to in the past several hundred years.

Deeper ancestry, anthropological in nature, a line I draw about the time when surnames were being adopted, is different and little information of that nature is exposed by the STR (short tandem repeat) genealogy markers.

By the way, short tandem repeat means those locations in our DNA that are prone to develop repeated sequences.  Think of them as genetic stutters.  They are important to us as genealogists, because on the Y chromosome, we count the number of those stutters and that is the marker value reported.

For example, below, we see that for marker 393, we have a value of 13.  That means there were 13 repeats of the same sequence.  Obviously, combining all of these sequences, or marker values, together creates our own genealogical genetic profile or fingerprint.  This, of course, is what we use to compare to others to see whom we match.

However, deep ancestry, identified by our haplogroup, is determined by a different kind of mutation, called a SNP, a single nucleotide polymorphism.

These are mutations that happen in only one location, and they are considered to be once in the lifetime of man mutations.  In actuality, these mutations sometimes happen independently in different haplogroups, but the cumulative sequence of SNP mutations defines our haplogroup.

You can see, for example, below, a haplotree from a Family Tree DNA client’s results page.

This person tested positive for the light green SNP, M417.  The plus means that they have this specific mutation.  In his case, this is his terminal SNP, meaning the one furthest down the tree that defines his haplogroup, as we know it today.  That would be R1a1a1.

The SNPs shown in red, below M417 are ones that he has also been tested for, but does not have, so he knows he is not a member of those haplogroups.  These are shown with a minus sign, such as M56-.

Now for the problem that WTY has been helping to solve.

If your STR markers take you back about 500 years, in round numbers, and your haplogroup tells you where your ancestors were between 3000 and 4500 years ago, in this case, where were they in-between?  What were they doing?  Where did they live and how did they get from where they were 4500 years ago to where you find them 300 or 400 years ago, if you’re a lucky genealogist and can go back that far?

There is a significant gap in the timeframe between STR genealogy markers and haplogroup SNP markers.  Finding additional SNPs will eventually close the gap between STR genealogy markers and haplogroups.  We will have a complete timeline of our ancestors.  In some cases, we’re even finding family-specific SNPs, known as “personal SNPs.”  How cool is that?  A new haplogroup is born in your family!

Did you notice on the tree above that some of the SNP markers begin with L?  Every SNP discovered is prefaced with a letter that tells people which lab or university discovered the SNP.  The L SNPs have all been discovered at Family Tree DNA’s Genomics Lab in Houston, Texas, run by Thomas Krahn.  They are the product of the WTY discovery process.

When there is reason to believe that a SNP might be lurking undiscovered in the DNA of a person or a group, then the WTY becomes an option.  Generally, the clue would be STR markers that are significantly different than any previously seen, or part of a small and quite unusual cluster.

Today, we test all of the known downstream SNPS, the ones in red above, and then if none are found, we would apply to Family Tree DNA to do a WTY test.  This test is quite labor intensive.  In essence, they manually look at between 450,000 and 500,000 positions to see if they spy any new mutations.

If they do, they begin the SNP naming process and the process of getting the SNP officially added onto the tree.  You can see the most current haplotree (Y SNP tree) at the ISOGG site.  Because of the long naming and authentication process, sometimes trees at different locations aren’t quite in sync.  The ISOGG tree, maintained by volunteer genetic genealogists, has become what most people look to and use as the gold standard today.

In any case, this process is how new SNPs are discovered.  The Geno 2.0 project includes 12,000 SNPs for the Y chromosome, an exponential growth from the current 862, or so.  At least some of these SNPs were discovered at Family Tree DNA, as a result of savvy project administrators and others who are familiar enough with DNA results to suspect that a new SNP might exist, and who advocated with the tester and Family Tree DNA for WTY testing.

Hopefully, you now understand better about the WTY and why WTY tests are so critically important.

How might you know if you or a family member is a good candidate?

If you have tested to 67 or more markers and have no matches, you may be a candidate.  You would need to do a deep clade test, which tests all relevant downstream SNPS at this point.  In the past this has been the Deep Clade test, but today it would be the Geno 2.0 test.  If you think you might be a candidate, you’ll want to work with your haplogroup administrator to see if there are any experimental SNPS to test for after the deep clade/Geno 2.0 is completed.

The WTY is the perfect example of collaborative citizen science.  Participants fund part of the testing, haplogroup administrators identify good candidates, Family Tree DNA underwrites part of the testing fee and of course performs the test, and everyone benefits.  Before you know it, you’ve got 12,000 new SNPs combined with new technology that promises to do more than we’ve ever dared dream before!!!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Geno 2.0, WTY, mtDNA Full Sequence Participants, and More

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As we know, some of the WTY (Walk the Y) discoveries were used in the creation of the Geno 2.0 chip.  The entire point, of course, for the WTY test is to sequence the Y chromosome to search for new mutations.  As we can see by the plethora of new L SNPs on the SNP Tree at ISOGG, this has been quite successful.

What you may not know is that the WTY product has two prices.  A price, subsidized by Family Tree DNA for the test if you agree to allow the use of the data for scientific research, and the private price.  The application for the WTY at Family Tree DNA clarifies the expectations and the pricing.

Therefore, anyone who did not pay the higher, private price of $1500, has agreed for their results to be used for research. In essence, those who did agree to participate in research received a significant discount, 38%, amounting to 950.

Thank you Bennett and Max for underwriting this important scientific effort!

Speaking with Bennett about the process of vetting the new Geno 2.0 chip, he indicated that many of the WTY samples used were internal, meaning not customers.  Only 23 public WTY samples were used.

Spencer Wells, today, clarified the situation for those few whose results were used:

“The WTY and whole-mtDNA genome customers used in the chip validation process will receive their results when the results section of the website goes live for all Geno 2.0 participants this fall.  Your data belongs to you.  There will be no charge to them for this, and we hope that they enjoy the new Geno 2.0 experience and will become cheerleaders for the project.”

I notice, in addition to the WTY samples used, this also extends to any mtDNA full sequence results used as well.  Thank you Spencer!

Now, of course the next question will be what happens for those who have already placed orders.  Spencer says, “They will be able to cancel their orders, or give the kit to a friend or family member (which of course we would prefer…;-).  I really want to encourage them to help us expand our database.  It will benefit everyone, themselves included, and will allow us to make the 2.0 experience richer for everyone – especially the community features.  They will receive the whole Geno 2.0 experience, just like people who purchase kits.  We’ll provide them with GPIDs to use for logging in via email.”

In addition, an article appeared in BioArray News today by Justin Petrone that provides some additional information on the Illumina BeadChips used.  It’s free, but you do have to register to read it.  I’m providing the highlights below that add to the information we’re already received.

Justin interviewed Spencer, who provides background information on the Genographic project.  He mentions that about 520,000 people have participated to date.

In addition to discussing the SNPs on chips information that Spencer has previously provided to our community, he also says that ‘National Geographic and its partners are preparing two publications that discuss the new chip and have submitted an abstract for the American Society of Human Genetics annual meeting, which will be held in San Francisco in November.”

Spencer also spoke a little about the new National Geographic online community capability.  This will be in addition to the option for participants to transfer their results to Family Tree DNA, for free.  He says that “participants will have the opportunity to choose to register for the Genographic online community to connect with other participants and find shared ancestry, helping to fill in the gaps between what they know about their recent genealogy and their genetic results.”

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Geno 2.0 Answers from Spencer Wells

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Lots of folks have had questions about the Geno 2.0 kits and different aspects of the testing.  Dr. Spencer Wells, National Geographic’s Scientist in Residence for the Genographic Project has been kind enough to answer some of the questions he’s been receiving.  I know the genetic genealogy community appreciates the continued communication and involvement from Dr. Wells.  Thanks Spencer!!

1.    How many SNPs do we have in the test?

A total of around 146,000 ancestry-informative markers (AIMs):  ~130,000 autosomal and X-chromosomal, ~13,000 Y-chromosomal, and ~3200 mtDNA

2.    What is the different between the Genographic Project and the 23andme test?  And ancestry.com?

Genographic is a non-profit National Geographic research project focused on mapping the human journey, and encompasses three core components:  scientific research, public participation and the Legacy Fund.  Our public participation component is available through the purchase of a Geno 2.0 DNA testing kit.  Our custom-designed genotyping chip looks at the markers outlined above, and is simply the best available platform for the study of genetic ancestry.  For-profit companies, including Ancestry and 23andMe, use slightly modified off-the-shelf chips which were optimized for medical research, not population history.

3.    Do we offer ancestry painting?

I assume you are referring to the chromosomal “painting” on the 23andMe website, and no – at this time we don’t offer this feature.  It is relatively straightforward to implement, however, and if there is sufficient interest among our participants, we may offer it in the future.

4.    Do we give African Americans their Asian percentage?

Everyone receives a breakdown of their regional affiliations, expressed as percentages.  This might include northeast Asian or southeast Asian in African Americans, if such components are present.

5.    Do we plan on adding a West African or East African to the affiliation?

We are continuing to refine our analysis of the chip data, and may be expanding our list of regional affiliations.

6.    How are we different from population finder?

It’s all about the markers:  again, because we have created our chip specifically for the study of ancestry, we feel that it is the most accurate tool for determining population affiliation.  Our AIMs were drawn from more than 450 world populations, and were chosen on the basis of their ancestry informativeness.  We are continuing to refine our analytical methods to provide the best ancestry testing experience available anywhere.

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Disclosure

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

Thank you so much.

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Adoptee Resources and Genetic Genealogy

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Genetic genealogy has been a God-send for adoptees, especially those who have had no luck unsealing records or otherwise determining their parentage.  I write DNA reports for lots of adoptees.  There is nothing more rewarding than an adoptee “happy ending,” someone who has found their family.  Nothing makes you appreciate your family more than working with people who can’t find theirs.

Men, especially, are fortunate, because the Y chromosome typically follows the surname, which means that they may have a very strong match with a specific surname.  Even though this doesn’t identify the specific person, it’s certainly a very large step in the right direction.  In more than one case, it has led us ultimately to the right person, confirmed by additional autosomal tests on family members.

Nearly all adoptees take the autosomal tests as well, Family Finder at Family Tree DNA and the 23andMe test.  This allows them to fish in two pools and both provide a list of matches.  The new Ancestry.com test, even though it’s new and we have no experience working with it yet promises a third pool for adoptee fishing.

Genetic genealogy for adoptees is slightly different than for the rest of us.  For adoptees, you’re not so much looking for older genealogy, you’re looking to use common autosomal DNA matches to identify any common ancestor between two matches, then use that information to track the family forward in time.  You’re ultimately looking for very recent genealogy, their parents.

A group recommended for adoptees doing DNA testing is DNAadoption. This site includes search angels and folks who are developing specially designed software to work with adoptees matches Gedcoms.

Furthermore, I strongly recommend the DNA Adoption group at this link, and their classes for how to work with autosomal DNA, whether you are an adoptee or not.

While not specific to Genealogy, the ISOGG list at Yahoo focuses on Genetic Genealogy.  They also sponsor a Newbie forum if that is more your speed.

Dick Hill, a genetic genealogist, himself an adoptee, succeeded in finding his birth family.  His story is particularly inspiring, and his book, Finding Family, will be released shortly.  Dick created this website to assist other adoptees with information and free resources.   http://www.dna-testing-adviser.com/

Here are some additional resources for adoptees:

http://www.americanadoptioncongress.org/

http://www.adoptiondatabase.org/

http://www.isrr.org/

http://www.adoptioninstitute.org

http://www.childwelfare.gov/adoption/search/

http://www.childwelfare.gov/systemwide/laws_policies/statutes/infoaccessap.cfm

Watch for new programs from the Mixed Roots Foundation beginning in the fall of 2012 including the Global Adoptee Genealogy Project. http://www.mixedrootsfoundation.org/

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Geno 2.0 – Q&A with Bennett Greenspan

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Bennett Greenspan, President of Family Tree DNA, was gracious enough to call me with the answers to several questions and responses to comments and speculation on blogs and lists today. He wants to thank everyone for their interest and personal support for the ongoing research and the new product.  I am putting these in a question and answer format.

Q:  Can I purchase the Geno 2.0 kit elsewhere?

A:  The Geno 2.0 product can only be purchased through the National Geographic Society.  This product cannot be ordered from Family Tree DNA.

Q:  Will there be a way to move my Geno 2.0 results to the Family Tree DNA database?

A: As with the original National Geographic product, we plan to have a link on the Geno 2.0 personal page to allow people to upload their results.  With the Geno 2.0 deep SNP results, they will be able to enter their Family Tree DNA account number, if they have an existing account at Family Tree DNA, and their deep SNP results will be included with their other tests results on their personal page.

Q:  Does Family Tree DNA plan to offer a test that will be more extensive then the new Genographic test for the Y chromosome?

A:  No. The most extensive test for obtaining YDNA SNP data is available on the Geno 2.0 chip and Family Tree DNA has no plans to compete with its partner.  STR results will not be supplied by Geno 2.0 and all regular genealogical marker tests should be ordered through Family Tree DNA.  These two tests go hand in hand.

By way of example, in haplogroup R-M222 – the new Geno chip includes discoveries of at least three unique SNP’s downstream of R-M222.

These 10,000 new SNPs will provide, for almost everyone, one or two additional clades (subhaplogroups) down the tree from where they are located today.  For some people, these will reach into a genealogical timeframe, connecting their SNPs and their STR data.  The STR tests will then be used to further augment the Geno 2.0 SNP tests for genealogical comparisons within families.

Q:  When will the new Y tree be available?

A:  FTDNA is vetting the Y tree in conjunction with the Genographic Project and prior to the release of these data.  This won’t occur until they will have had enough samples to fully vet the 12,000 tree SNPs, confirming the positions on the tree and that all SNP’s are working correctly.

Q:  What is the difference between the full mitochondrial sequence (FMS) test and the Geno 2.0 test for mitochondria?

A:  Chips can only tell you what is programmed on them.  The Geno 2.0 test is not as complete as the FMS.  Geno 2.0 includes all mtdna SNPs approved for research purposes at Family Tree DNA plus all known mutations found in Genbank.  The Geno 2.0 chip includes a total of about 3,100 locations, more than any other product using this same technology.

This test is very complete for European-centric haplogroups, such as H.  However the test is anthropological in nature, not genealogical.  This means that while you will receive your haplogroup assignment to the same level as a full sequence test, you will not receive other genealogical information that could be critically important to your research.  (Private SNP’s that are unknown will not be ‘discovered’ via chip testing).

If you want your anthropological information, meaning haplogroup information only, then the Geno 2.0 kit is the way to go.

Geno 2.0 has 50% more mtDNA SNP’s than the next best chip technology for mtDNA.  The only thing better is the full sequence test.  The full sequence test is the only test that can be universally used for scientific research as well.

Q:  There seems to be some confusion surrounding what products to order for what purposes.

Geno 2.0

Product Purchase?
Y DNA – 12,000 SNPS – Deep Ancestry – Haplogroup identification Yes
Mitochondrial DNA – Anthropology – Deep Ancestry – Haplogroup Identification Yes
Ethnicity – Worldwide Populations – Ancestral Informative Markers – Deep Ancestry – 137,000 total SNP locations – covers many SNPS not in Family Finder Yes

FTDNA Products

Product Purchase?
Y- DNA Regular STR tests, 12, 25, 37, 67 and 111 markers Yes
Mitochondrial DNA tests for genealogical comparisons Yes
Family Finder –for genealogical matching – cousin matching provided from Family Tree DNA data base Yes
Y DNA deep clade test Order Geno 2.0 unless time is of the essence
Y DNA WTY – after running Geno 2.0 on kit, discuss with Family Tree DNA Case by case

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

National Geographic – Geno 2.0 Announcement – The Human Story

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Have you ever dealt with something so massive and overwhelming it took a few days just to get your head wrapped around it?  Well, that’s how I’ve been feeling about the new National Geographic Geno 2.0 announcement.  It’s not just what has been announced, but the utterly massive amount of scientific research behind the scenes, and what it means to the rest of us.

If you think of all of the discoveries and progress that has been made in the 12 years since the advent of genetic genealogy, what you’re about to hear today dwarfs it all.  Hold on tight – this is a white knuckle ride of a lifetime.  The day I heard about this, I wandered around somewhat starry-eyed in amazement and kept muttering something terribly intelligent like “Wow, oh Wow.”

I’d like to share with you some of today’s big news and hope that you too share my sense of awe to be alive in such an exciting time, and to have not only a front row seat, but participating in making history.  This isn’t a movie, it’s the real McCoy!

Let’s start with a bit of history about Nat Geo 1.0, the Genographic Project.  Fasten your seatbelt, your E ticket ride starts here and now!

Nat Geo 1.0

Eight years ago, in April 2005, the National Geographic Genographic project was announced. The goal was to sell a total of 100,000 kits over 5 years to help fund the indigenous part of the project, which was to collect samples from indigenous peoples around the world to better understand population migration.

According to Nat Geo, this has been the most successful program they have ever undertaken.  That in and of itself it an amazing statement, especially considering that there was a lively debate within Nat Geo prior to the project launch.

Someone opined to Spencer Wells that they wouldn’t even sell 10,000 kits, let alone 100,000.  Well, they were wrong, 10,000 kits were sold the first day alone.  I’m guessing that Bennett and Max at Family Tree DNA, whose test kits Nat Geo uses, has a sense of controlled panic about that time.  The 100,000 kits were sold in the first 8 months and they still sell between 40,000 and 50,000 kits per year today.

How is that project doing?  Well, it was scheduled to run for 5 years, and it’s now into its 7th year.  They have collected over 75,000 samples from indigenous people and on the public side, over 750,000 people in over 130 countries have bought kits to help fund the research.  32 publications either have been released or will be shortly. Of the 45 million dollars the project has grossed, National Geographic has contributed more than 1.7 million dollars to the Legacy Fund for investment back into the indigenous communities that participated in the Genographic project.

You might recall that the original Nat Geo project only tested 12 markers for men and the HVR1 region on the maternal side.  At that time, 7 years ago, $99 for each of those was a great deal and the projects received a lot of new participants.  About 20% of the Nat Geo participants transferred their result to Family Tree DNA, for free, so they could join projects and participate in genetic genealogy.

Today, 12 markers is quite light and so is HVR1 testing alone.  Project administrators cringe when we see those, because we know it’s really not enough to do much with today.  We’ve learned so much in the past 7 years.  You don’t realize how much things have changed until you take a minute to look back.

At the same time we were learning, technology was also advancing.  Seven years ago, running autosomal tests was simply cost prohibitive. If you consider that computer technology has decreased in price and doubled in speed every year or two (Moore’s Law), the advances in DNA sequencing technology and understanding are moving in the same directions (increased capability and decreased costs) by a factor of 5 as compared to computer technology. Literally, we are moving at the speed of light.  See, I told you to hold on.  I meant it!

Geno 2.0 – The Big Announcement

It’s amazing that something this big has been kept this quiet.  Those of us involved have been bursting at the seams with excitement, and today is the big day.  Last night about 9 o’clock we received word that the countdown had begun.

For a look at the new National Geographic webpage, go to www.genographic.com.  This is the heart of the new Geno 2.0.

Geno 2.0 is still comprised of the 3 core components as before, the indigenous portion, the Legacy fund and the public participation portion.  However the technology is changing, dramatically, and the public participation arena is expanding.   Public participation will now include some “citizen science” projects, grants, an educational segment meaning kits in classrooms, and community based projects.  All of this is made possible by advances in the core sciences and technology.  This, plus the focus of the “Dream Team” of genetic genealogy and population genetics.

Thankfully, Spencer Wells at National Geographic and Bennett Greenspan and Max Blankfeld at Family Tree DNA prepared us in advance for what was coming, as much as you can prepare for a technological tsunami!

Let’s take a look at the technology and scientific advances that have occurred and what it means to us today.

New Chips and New Partnerships

The days of sequencing 12 markers in the lab are gone forever, replaced by high-speed sequencing that looks at half a million markers, or more, at a time, and for the same price as a 12 marker test and the mitochondrial DNA test, together, would have cost in Nat Geo 1.0.

However, when you’re looking at just the Y DNA and the mitochondrial, you’re missing 98% of the human genome, the part that isn’t Y or mitochondrial DNA.  And that 98% holds many secrets, the secrets of our ancestors.

The National Geographic Society recruited one of the top geneticists in the world at Johns Hopkins, focused on autosomal genetic markers.  He has spent the past two years identifying every known marker relevant to ancestry or population genetics that is NOT medically relevant.  This includes the X and Y chromosomes, mitochondrial DNA and the balance of the autosomal markers.

Are you sitting down?  Here’s the first of several bombs!

Relative to Y-line DNA, in 2010, just 2 years ago, the YCC SNP 2010 tree had a total of just over 800 SNPs that has been discovered.  Today it still hasn’t reached 900.  You can see the current tree at  http://www.isogg.org/tree/index.html.  Notice that all of the L SNPs were discovered by Thomas Krahn in the Family Tree DNA lab with the assistance of Family Tree DNA’s customers and project administrators.  This is truly “crowd-science” in the flash mob sense.

Today, after a concerted effort of discovery involving many people, there are a total of 12,000 Y SNPS and of that, 10,000 of them are unique and new and have never been seen or published before.  This means that your haplogroup will automatically be determined to the furthest branch of the tree with no additional SNPs to be tested.  As this test becomes available to Family Tree DNA clients as an upgrade, it will signal the demise of the deep clade test.

If there is a project administrator sitting next to you, they have just fainted.  The magnitude of this is simply mind-boggling.

Relative to mitochondrial DNA, 3352 unique (non-haplogroup defining) mutations have been discovered.  To measure all of the relevant mitochondrial DNA mutations, including insertions and deletions, over 31,000 probes (locations) are needed on the new high density chips.  Before this new approach, chip technology was unable to account for insertions and deletions, but that has been remedied by a new approach to an old problem.  This means that haplogroups will be determined to their deepest level and they will be accurate, including insertions and deletions critical to haplogroup assignment.

Relative to autosomal DNA, over 75,000 Ancestrally Informative Markers (AIMs) have been discovered and included on the new chip, and that’s after removing any that might be considered medically informative.  This astronomical number of SNPs will allow us to detect ethnicity and improve accuracy on a scale that we’ve never even dreamed about before.  I specifically asked Spencer Wells if this will help resolve those “messy” situations where we have European, Native American and African admixture, and he indicated that it would.  I can hardly wait.  For those of us what have been waiting patiently, and some not so patiently, to be able to identify small amounts of admixture, this is the best news you could ever hope to hear!  I told you that something wonderful was on the way!

Relative to admixture with Neanderthal, Denisovan and Melanesian man, meaning interbreeding, more than 30,000 SNPs have been identified that will signal interbreeding where it occurred between modern humans and ancient hominids.  And yes, this means that it did occur!  So indeed once again, you can begin wondering about your brother-in-law.  He’s probably wondering about you too.

Relative to the X chromosome, it’s included.  The X chromosome, because of its special inheritance pattern, gives us an additional, special tool when working with genetic genealogy.  We’ll cover this in a future blog.

The New Chip

In total, the new SNP count to be included on the new Nat Geo 2.0 chip (photo above) includes both new and known existing SNPs in the following amounts:

  • Autosomal including X – 147,000
  • Neanderthal – 26,000
  • Denisovan – 1,500
  • Aboriginal – 13,000
  • Eskimo – 12,000
  • Chimpanzee – 1,100
  • Y Chromosome – 12,000
  • mtDNA – 31,000

This chip has been designed to distinguish between populations.

OMG – What Happened to the Haplotree?

We’re not done yet with bombshells.

After this new chip was created by Illumina specifically for National Geographic, about 1200 samples were run as proof of concept, including 400 WTY (Walk the Y), 350 mitochondrial full sequence and 500 Y samples.  All of the samples run are checked and tested for all of the SNPs on the chip.  Of course, females’ samples will fail on all of the Y haplogroup locations, etc.

Just based on this test run alone of 900 Y chromosome kits, the haplotree expanded from 862 SNPs to a total of 6153.  If you’ve just said something akin to “Holy Cow,” you’re on the right track.  Imagine what it will do with another 1000 or 10,000 or 100,000 tests.  Right now, we’re making discoveries so fast we can hardly deal with them.

What Does This Mean?

In reality, what this means is that we will very soon use SNPs to determine heritage down to a genealogical meaningful timeframe, meaning 500 to maybe 1000 years.  The standard STR (Short Tandem Repeat) markers we know and love will become the leaves on the branches of the tree and these will likely be used when there are no more SNPs to determine family groupings and line marker mutations within families.

New National Geographic Geno 2.0 Website

Needless to say, all of this discovery has prompted National Geographic to redo their website entirely.  New maps are forthcoming.  Yeah!!  New maps include the migration maps as well as new haplogroup “heat maps” where the colors are graduated based on frequency.

There are entirely new capabilities too.  The new website will show you as the center of a circle and you’ll be able to contact people who have tested at Nat Geo who are located near to you in the circle.  Those closest to you, you’re most closely related to.  Further away, more distantly related.  Before, there was no matching between Nat Geo participants.

And yes, Geno 2.0 participants will still be able to transfer into Family Tree DNA for free.  I hope they make that option much more visible or interactive.

A New Test Kit

Anyone wanting to participate in Geno 2.0 will have to order a new kit from National Geographic.  The previous Nat Geo kits, if you recall, were anonymous unless you chose to transfer to Family Tree DNA, plus the permission you gave was specifically for mtdna or Y-line, not autosomal testing.

Furthermore, the DNA in many kits will be too old and will have degraded too much to use.  Everyone ordering the new Geno 2.0 kit will receive a new swab kit, in an heirloom box.  The comprehensive Y-line (haplogroup only), mtdna (haplogroup only) and autosomal testing will cost $199.

For Family Tree DNA clients who will be offered the upgrade in the late summer or fall, you will be able to upgrade if your DNA is less than 4 or 5 years old.  Otherwise, you’ll receive a new swab kit too.

All processing will be done at the Family Tree DNA Houston facility.

New Results Pages

The new test of course requires all new results pages for participants.

Take a look at a few of the pages you can expect.

The results will be presented as a personal story.

Your story will also include information such as maps of where your ancestors lived and where they migrated.

I asked Spencer if participants will be able to download their results so that we can continue to compare them as we do today, using various phasing tools.   Spencer replied, “Yes, raw results WILL be available for download.  In the Genographic Project, you will always own your DNA results, and the genotype data will be yours to do with as you please.  I feel very strongly that this is a cornerstone of ethical DTC genetic testing.”  Way to go Spencer!!

As Geno 2.0 moves forward, additional analytical tools will be added.

Ordering

National Geographic is accepting pre-orders now.  They will ship before the end of October, and they expect to be shipping significantly before that.

In Summary

Our world is changing, rapidly, and for the better.  The door we’ve been peeking through for a decade now is swinging wide open.  More brick walls will fall.  We’ll find and meet new cousins.  Ethnicities will be identified at a level never before possible.  We’ll learn about our ancestors and the story of our past through their DNA that we carry today.  It is the frontier within.  DNA is truly the gift that keeps on giving!

“One small step for man, one giant leap for mankind.”

Neil Armstrong, July 20, 1969

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research