2012 Top 10 Genetic Genealogy Happenings

2012 has been a very busy year for genetic genealogists.  There have been lots of discoveries and announcements that affect everyone, now and in the future.  The watchwords for 2012 would be “churn” and “explosive growth.”  Let’s take a look at the 10 most important events, why they are important and what they mean for the future of genetic genealogy.

These items are in what I think are relatively good order, ranked by their importance, although I had a very difficult time deciding between number 1 and 2.

1. The New Root – Haplogroup A00

At the Family Tree DNA conference in November, Michael Hammer, Bonnie Schrack and Thomas Krahn announced that they had made a monumental discovery in the age of modern man known as Y-line Adam.  The discovery of Haplogroup A00 pushes the “birth” of mankind back from about 140,000 years ago to an amazing 338,000 years ago.  Utterly amazing.  The DNA came from an American family from South Carolina.  This discovery highlights the importance of citizen science.  Bonnie is a haplogroup administrator who recognized the potential importance of one of her participants’ DNA.  Thomas Krahn of course is with Family Tree DNA and ran the WTY test, and Michael Hammer is at the University of Arizona.  So you have the perfect blend here of participant, citizen scientist, commercial lab and academia.  What was never thought possible a decade or so ago is not only working, it’s working well and changing the face of both science and humanity.

http://dna-explained.com/2012/11/16/the-new-root-haplogroup-a00/

http://www.haplogroup-a.com./

2. Geno 2.0

Geno 2.0 is the Nickname for the National Geographic Society’s Genographic Project version 2.0.  That mouthful is why it has a nickname.

This amazing project has leveraged the results of the past 7 years of research from the original Genographic project into a new groundbreaking product.  Geno 2.0, utilizing the GenoChip, a sequencing chip created specifically for Nat Geo, offers the most complete Y tree in the world today, expanding the SNP tree from just over 800 SNPs to over 12,000.  They are in essence redrawing the Y chromosome tree as I write this.  In addition, the person who purchases Geno 2.0 will receive a mitochondrial DNA haplogroup assignment.  Over 3300 new mitochondrial mutations were discovered. A brand new anthropological “percentages of ethnicity” report is featured based on over 75,000 Ancestry Informative Markers, many only recently discovered by the Genographic project.  Additionally, participants will receive their percentage of both Neanderthal and Denisovan ancestry based on 30,000 SNPs identified that signal interbreeding between the hominids.  A new website will also facilitate social networking and uploading information to Family Tree DNA.

The wonderful news is that there is a massive amount of new information here that will change the landscape of genetic genealogy.  The difficulty is that we are struggling a bit under the load of that massive amount of information that is just beginning to descend upon us.  It’s a great problem to have!

http://dna-explained.com/2012/07/25/national-geographic-geno-2-0-announcement-the-human-story/

http://dna-explained.com/2012/07/26/geno-2-0-qa-with-bennett-greenspan/

http://dna-explained.com/2012/07/30/geno-2-0-answers-from-spencer-wells/

http://dna-explained.com/2012/07/31/geno-2-0-wty-mtdna-full-sequence-participants-and-more/

http://dna-explained.com/2012/10/14/what-to-order-geno-2-0-vs-family-tree-dna-products/

http://dna-explained.com/2012/10/16/geno-2-0-the-kit-arrives/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

3. Reconstructed Sapiens Reference Sequence (RSRS)

In July, Family Tree DNA implemented the RSRS that in effect reconstructs the genetic profile of Mitochondrial Eve and bases the comparison of our DNA today against the RSRS sequence as opposed to the Cambridge Reference Sequence (rCRS) created in 1981 that is or was the current standard.  The RSRS is a result of the watershed paper published in April 2012 by Dr. Doron Behar and 8 other authors titled “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root.”  A complementary research website, www.mtdnacommunity.org, accompanies the paper.

http://dna-explained.com/2012/07/14/what-happened-to-my-mitochondrial-dna/

http://dna-explained.com/2012/07/15/the-crs-and-the-rsrs/

http://dna-explained.com/2012/07/16/the-mtdna-community/

http://dna-explained.com/2012/12/02/little-a-big-a-mitochondrial-dna/

4. Full Genome and Exome Sequence Offered Commercially by Gene by Gene

It was announced at the November DNA conference that Gene by Gene, the parent company of Family Tree DNA, through their division titled DNA DTC is offering full genomic sequencing for the amazing price of $5495 for the full genome and $695 for the exome.  This is a first in the consumer marketspace.  Today, this doesn’t have a lot of application for genetic genealogy, but as the price continues to drop, and utilities are built to process the full genomic data, certainly a market and applications will emerge.  This is an important step forward in the industry with a product that still cost 3 million dollars in 2007.

http://dna-explained.com/2012/11/30/gene-by-gene-announces-landmark-dna-dtc-full-genome-sequence/

5. Neanderthal and Denisovan DNA

It’s official – they did it.  Yep, they interbred and well, they are not them anymore, they are us.  Given that everyone in Asia and Europe carries a part of them, but not people from Africa, it would appear that two populations admixed rather thoroughly in Eurasia and/or the populations were small.  The amount of Neanderthal and Denisovan DNA will continue at approximately the proportions seen today in Europe (2% Neanderthal) and Asia unless a significant amount of admixture from a population (Africa) that does not carry this admixture is introduced.  So if you’re European, you carry both Neanderthal and Denisovan DNA.  They are your ancestors.  The good news is that you can find how much of each through  the Geno 2.0 test.  23andMe results give you the percentage of Neanderthal, but not Denisovan.

http://dna-explained.com/2012/08/31/denisovan-dna-tells-a-story/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

6. Ancestral Genome Reconstruction Begins,  Led by Falling Autosomal Prices and the Ability to Fish in Multiple Ponds

2012 has been the year of autosomal testing price reductions and a great deal of churn in this marketspace.  Companies are playing leap-frog with one another.  However, sometimes things are not all that they seem.

Initially, 23andMe opted for an initial payment plus monthly subscription model, which they abandoned for a one time payment price of $299 in early 2012.  Family Tree DNA was slightly less, at $289.

Ancestry led the price war by giving away kits, then selling them for $99, then $129 plus a subscription as an entrance into this market.  However, looking at the Ancestry consent form hints at possible reasons why they were selling below the cost of the tests.  You are in essence giving them permission to sell your DNA and associated information.  In addition, to gain full access to your results and matches, you must maintain some level of subscription to Ancestry.com, increasing the total effective price.

Next came Family Tree DNA’s sale where they dropped their autosomal price to $199, but they were shortly upstaged by 23andMe whose price has now dropped to $99 permanently, apparently, a result of a 50 million dollar investment in order to reach 1 million customers.  They currently have about 180,000.  23andMe has always been in the medical/health business, so their clients have always understood what they were consenting to and for.

Not to be outdone, Family Tree DNA introduced the ability earlier in 2012 to upload your data files from 23andMe to FamilyTree DNA for $89, far less than a second test, which allows you to fish in a second pond where genealogists live for matches.  The challenge at 23andMe is that most of their clients test for the health traits and either don’t answer inquiries or match requests, or know little about their genealogy if they do.  At Family Tree DNA, matches don’t have to answer and allow a match, testers are automatically matched with all participants who take the Family Finder test (or upload their 23andMe results) and testers are provided with their matches’ e-mail address.

Of course, Geno 2.0 was also introduced in the midst of this, in July, for $199 with the additional lollipop of new SNPS, lots of them, that others simply don’t have access to yet.

The good news is that consumers have benefitted from this leapfrogging, I think.  Let’s hope that the subsidized tests at Ancestry and 23andMe don’t serve long term to water down the demand to the point where unsubsidized companies (who don’t selling participants genetic results to others) have problems remaining viable.

Personally, I’ve tested at all of these companies.  I’ll be evaluating the results shortly in detail on my blog at www.dna-explained.com.

The tools provided by most testing companies, plus GedMatch, and multiple ponds to fish in are allowing the serious genetic genealogist to “reconstruct” their genome, attributing segments to specific ancestors.  Conversely, we will also be able to “reconstruct” specific ancestral family lines as well by identifying autosomal segments in multiple descendants.  This new vision of autosomal genetic genealogy will allow much more accurate ancestral line matching, and ancestor identification in the not-so-distant future.

http://www.yourgeneticgenealogist.com/2012/01/family-tree-dna-now-accepting-23andme.html

http://www.yourgeneticgenealogist.com/2012/05/23andme-eliminates-subscription-model.html

http://www.yourgeneticgenealogist.com/2012/10/clarification-of-what-is-available-to.html

http://www.yourgeneticgenealogist.com/2012/12/23andme-receives-50-million-and-drops.html

http://www.thegeneticgenealogist.com/2012/12/26/23andme-and-labcorp-sued-for-patent-infringement/

7. Ethnicity Tests Mature – Minus 1

The good news is that the various ethnicity tests (known as BGA or biogeographical ancestry tests) that provide participants with their percentages of various world populations are improving.  The bad news is that there is currently one bad apple in the card with very misleading percentages – and that is Ancestry.com.

23andMe introduced a new version of their ethnicity product in December, expanding from only 3 geographic categories to several.  The Geno 2.0 test results are just beginning to be returned which include ethnicity predictions and references to several base populations.

Family Tree DNA finally has some competition in this arena where for years they have been the only serious player, although opinions differ widely about which of these three organizations results are the most accurate.  All four are Illumina chip based, using hundreds of thousands of locations, as compared with the previous CODIS type tests which used between 15 and 300 markers and are now outdated.  All companies use different reference populations which, of course, provide somewhat different results to participants.  All companies, except Ancestry, have documented and shared their reference population information.

Outside of these companies, Doug McDonald offers a private analysis and Gedmatch offers a series of BGA comparisons written by third parties.

While this industry continues to grow and mature, I’m thinking about just averaging the autosomal ethnic results and calling it good:)

http://dna-explained.com/2012/07/21/ethnicity-finders/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://dna-explained.com/2012/12/07/new-worldview-at-23andme/

http://dna-explained.com/2012/09/09/doug-mcdonald-on-biogeograpical-analysis/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://www.yourgeneticgenealogist.com/2012_12_01_archive.html

8. Finding Your Roots PBS Series with Henry Louis Gates

PBS sponsored a wonderful series in the spring of 2012 hosted by Henry Louis “Skip” Gates, the chair of African American Studies at Harvard.  This series followed a lesser known 2010 series.  The 2012 inspirational series reached tens of thousands of people and increased awareness of genetic genealogy as well as sparked an interest in genealogy itself, especially for mixed race and African American people.  I was disappointed that the series did not pursue the Native American results unexpectedly obtained for one participant.  It seemed like a missed opportunity.  Series like this bring DNA testing for genealogy into the mainstream, making it less “strange” and frightening and more desirable for the average person.  These stories were both inspirational and heartwarming.  I hope we can look forward to similar programs in the future.

http://en.wikipedia.org/wiki/Finding_Your_Roots

CeCe Moore covered this series in March and April on her blog.

http://www.yourgeneticgenealogist.com/2012/03/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_09.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_16.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_23.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_30.html

9. Ancestry, GeneTree and Sorenson

GeneTree, a for profit company and Sorenson, a non-profit company were both purchased by Ancestry.com.  This was about the same time as Ancestry introduced their autosomal AncestryDNA product.  Speculation was that the autosomal results at Sorenson might be the foundation for the new autosomal test comparisons, although there has been no subsequent evidence of this.

Ancestry initially gave away several thousand kits in order to build their data base, then sold thousands more for $99 before raising the price to what appears to be a normalized price of $129 plus an annual ancestry subscription.

While GeneTree was never a major player in the DNA testing marketspace, Sorenson Molecular Genealogical Foundation played an important role for many years as a nonprofit research institute.  There was significant distress in the genetic genealogy community related to the DNA contributed to Sorenson for research being absorbed by Ancestry as a “for profit” company.  Ancestry is maintaining the www.smgf.org website, but no additional results will be added.  Sorenson has been entirely shuttered.  Many of the Sorenson/GeneTree employees appear to have moved over to Ancestry.

The initial AncestryDNA autosomal product offering is poor, lacks tools and the ethnicity portion has significant issues. It’s strength is that many people who test are already Ancestry subscribers and have attached their trees.  So you can’t see how you connect genetically to your matches (lack of tools), but you can see the trees, if they are attached and not marked as private, of those with whom you match.  Ancestry provides “hints” relative to matching individuals or surnames.

Eventually, if Ancestry improves its products, provides tools and releases the raw data to consumers, this may be a good thing.  It’s an important event in 2012 because of the massive size of Ancestry, but the product is mediocre at best.  Ancestry seems unwilling to acknowledge issues unless their feet are held to the fire publicly as illustrated with a “lab error” erroneous match for an adoptee caught by the consuming public and ignored by Ancestry until CeCe Moore exposed them in her blog.  Whether Ancestry ultimately helps or hurts the genetic genealogy industry is a story yet to be told.  There is very little positive press in the genetic genealogy community surrounding the Ancestry product, but with their captive audience, they are clearly going to be a player.

http://www.yourgeneticgenealogist.com/2012/05/ancestrycom-buys-genetree-and-launches.html

http://dna-explained.com/2012/07/12/did-you-test-at-genetree/

http://dna-explained.com/2012/08/30/is-history-repeating-itself-at-ancestry/

http://dna-explained.com/2012/07/18/the-trouble-with-ancestry-com-matches/

http://dna-explained.com/2012/08/14/y-dna-family-tree-dna-vs-ancestry/

http://dna-explained.com/2012/08/16/ancestrys-consent-form-for-ancestrydna-autosomal-test/

http://dna-explained.com/2012/09/10/ancestry-autosomal-results-are-back/

http://dna-explained.com/2012/10/15/ancestrys-dna-survey/

http://dna-explained.com/2012/10/23/ancestry-to-release-array-data-in-2013/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://www.thegeneticgenealogist.com/2012/06/19/problems-with-ancestrydnas-genetic-ethnicity-prediction/

http://www.yourgeneticgenealogist.com/2012/08/ancestrydna-confusing-relationship.html

http://www.yourgeneticgenealogist.com/2012/08/follow-up-on-ancestrydna-and-adoptees.html

http://www.yourgeneticgenealogist.com/2012/09/23andme-says-no-match-for-adoptees.html

10. GedMatch

GedMatch, www.gedmatch.com, created by John Olson and Curtis Rogers, isn’t new in 2012, but it’s maturing into a tool that is becoming the defacto workhorse of the serious autosomal community.  People who test at either 23andMe or Family Tree DNA download their raw results and other match information and then use a variety of tools at GedMatch to look at results in different ways and using different thresholds. GedMatch is currently working to accept the newly arriving Geno 2.0 data files.  Ancestry does not at this time allow their customers access to their raw data files, so there is nothing to upload. The bad news is that not everyone downloads/uploads their information.  Only the most savvy users, and the download/upload is not always a smooth process, often necessitating several attempts, a magic wand and some fairy dust for luck.

GedMatch is a volunteer effort funded by donations on the GedMatch site.  The magnitude of this project came to light when they needed new servers this year because the amount of traffic disabled their internet service provider.  It may be a volunteer effort, but it has mainstream requirements.  Therefore, while occasionally frustrating, it’s easy to understand why it’s light on documentation and one has to poke around a bit to figure things out.  I would actually prefer that they make it a subscription site, clean up the bugs, add the documentation and take it to the next level.  It would also be very nice if they could arrange something with the major players in terms of a seamless data transfer for clients.  All told, it’s an amazing contribution as a volunteer site.  Hats off to Curtis and John for their ongoing contribution to genetic genealogists!!!

www.gedmatch.com

http://www.legalgenealogist.com/blog/2012/08/12/gedmatch-a-dna-geeks-dream-site/

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Proving Native American Ancestry Using DNA

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 1/16th 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:

adopted pedigree

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:

  1. 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.
  2. 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.
  3. 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 3/4th 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.

DNA Pedigree

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 6th or 7th 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.

native pop finder

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.

native d9s919 order

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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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

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

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:

adopted pedigree

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

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, 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.

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: 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.

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.

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.

adopted cheat chart

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 6th or 7th 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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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

New Worldview at 23andMe

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.

rje world 23andme

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.

rje world 23andme 2

The worldwide breakdown into regions is quite interesting as well.

rjeregion23andme

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

rjeregion23andme2

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

rjechromosome view old 23andme

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

rjechromosome view 23andme new

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!

______________________________________________________________

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

Bigfoot is Real???

If a new paper yet to be published and currently undergoing peer review is valid, it appears that Bigfoot, also known as Sasquatch, is indeed, real and a hominid mix, meaning that Sasquatch is a human relative that arose approximately 15,000 years ago as a hybrid cross of modern Homo sapiens with an unknown primate species.

Following five years of research, a team of scientists has sequenced several Sasquatch genomes.  Results show that Bigfoot is a mixture between a human female, about 15,000 years ago, and a male, a previously unknown hominin related to Homo sapiens and other primate species.  Wow.  What a discovery!

This begs several questions.  Is all of the mitochondrial DNA the same, inferring a single maternal ancestor?  They have sequenced 20 different mitochondrial samples.  Given that the mitochondrial DNA is reportedly identical to that of modern humans, we can presume, one would think, that the mitochondrial DNA is Native American, so a member of haplogroup A, B, C, D or X.  Hopefully the forthcoming paper will be more specific.

The scientists fully sequenced three Bigfoot nuclear DNA samples and the results are stunning.  The male is not a contemporary human and they have eliminated both Neanderthal and Denisovian males as possible founders.

Dr. Melba Ketchum, one of the paper’s authors, states that, “The male progenitor that contributed the unknown sequence to this hybrid is unique as its DNA is more distantly removed from humans than other recently discovered hominins like the Denisovan individual. Sasquatch nuclear DNA is incredibly novel and not at all what we had expected. While it has human nuclear DNA within its genome, there are also distinctly non-human, non-archaic hominin, and non-ape sequences. We describe it as a mosaic of human and novel non-human sequence. Further study is needed and is ongoing to better characterize and understand Sasquatch nuclear DNA. Genetically, the Sasquatch are a human hybrid with unambiguously modern human maternal ancestry.”

There are subtle and not so subtle messages buried here as well.  Obviously, for the team to acquire 20 samples to process, there has to be a population of these creatures living in North America.  Of course, everyone has heard of Sasquatch and seen photos and videos, but until this, nothing has been terribly convincing.  There has been no smoking gun.  If this research is valid and passes peer review, it not only confirms that Sasquatch is real, it vindicates many of the people who have had “sightings” over the years.  It becomes the smoking gun.  But as with much science, it raises more  questions than it answers.

For example, are there any non-admixed Sasquatch progenitors left, meaning the males that founded the Sasquatch line with the human female?  How would we tell the difference?  This of course implies that some sort of pre-hominid species existed on this continent before Native Americans arrived from Asia and had existed separate from hominids for a long time.  Is there other evidence of this creature in North America?

Where were these samples collected?  Are the Sasquatch samples studied from across North America or from one region only?  Are all of the Sasquatch related to each other, and how closely?  In other words, were there multiple founder events?  Was the Y-line DNA sequenced and what does it tell us? Were there multiple male founders or did the Sasquatch line arise from a “one time” event?  Do any of the Native tribes in these regions have oral history regarding either Sasquatch or interbreeding with Sasquatch type creatures?

Are there “Sasquatch” in other parts of the world as well?  The Yeti or Abominal Snowman of Nepal seems to be similar, and a scalp purportedly exists from that creature.  If DNA samples outside of North American have been sequenced, are they related to the North American Sasquatch or did they arise separately, assuming they too exist?

And finally, do these creatures have “rights” and are they the same “rights” as humans?  Given that they carry human mitochondrial DNA, and many Native tribes are maternally based, would they be considered “Native American?”  How do we, as humans, deal with this?  Are we learning that humanity is really a continuum?

Indeed, I look forward to seeing this published paper and I hope it is legitimate and not pseudo-science of some sort.  The mere fact that the scientiests have opted for academic publication versus a book or TV documentary certainly alludes to the fact that it is legitimate research.  You can read more about this announcment at these links.  I’ll let you know when the paper becomes available.

http://www.prweb.com/releases/prweb2012/11/prweb10166775.htm

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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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Family Tree DNA Conference 2012 – Nits and Grits

First things first!  I want to thank Max and Bennett for graciously hosting the 8th Annual Genetic Genealogy Conference in Houston, Texas!  This is actually the 9th year, but a pesky hurricane interfered one year.  Max and Bennett are very generous with their time and resources and heavily subsidize this conference for us.  We’re registering in the photo above.

Georgia Kinney Bopp said it best.  At some point during this amazing conference, someone tweeted an earlier quote from a conversation between Ann Turner and Georgia:

“it’s hard to realize you’re living history while it happens…”

This was ever so true this weekend.  Even my husband (who is not genetic genealogy crazy) realized this.  I’m not sure everyone at the conference did, or realized the magnitude of what they were hearing, as we did have a lot of newbies.  Newbies are a good thing.  It means our obsessive hobby and this industry have staying power and there will be people to pass the torch to someday.

I’ve already covered the Native American focus meeting in an earlier blog.

For those of you who want the nitty gritty play by play as it happened at the conference, go to www.twitter.com and search for hashtag #ftdna2012.  If you want some help with Twitter, I blogged about that too.  Twitter is far from perfect, but it is near-realtime as things are happening.

As always, Family Tree DNA hosts a reception on Friday evening.  This helps break the ice and allows people to put faces with names.  So many of us “know” each other by our e-mail name and online presence alone.

We had a special guest this year too, Nina, a little puppy who was rescued by Rebekah Canada just a few days before the conference.  Nina behaved amazingly well and many of us enjoyed her company. 

Bennett opened the conference this year, and in the Clint Eastwood political tradition, spoke to his companion, the chair named Max.  The real Max, it turns out, was losing his voice, but that didn’t prevent him from chatting with us and answering questions from time to time.

While Bennett was very low key with this announcement, it was monumental.  He indicated that the parent company of Family Tree DNA has reorganized a bit.  It has changed its name to Gene by Gene and now has 4 divisions.  You can check this out at www.genebygene.com.  This isn’t the monumental part.

The new division, DNADTC’s new products are the amazing parts.  Through this new division, they are the first commercial company to offer a full genome sequence test.  The price, only $5495.  For somewhat less, $695, they are offering the exome, which are your 20,000 genes.  Whoever though it would be a genetic genealogy company who would bring this to the public.  Keep in mind that the human genome was only fully sequenced in 2003 at a cost of 3 billion dollars.

The amazing part is that a full genome sequence cost about 3 million in 2007 and the price will continue to fall.  While consumers will be able to order this, 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.

Bennett also said that he expects that National Geographic will, in 2013 sometime, decide to allow upgrades from Family Tree DNA clients for the Geno 2.0 product.  This will allow those people who cannot obtain a new sample to participate as well.  However, an unopened vial will be required.  No promises as to when, and the decision is not his to make.

The first session was Spencer Wells via Skype from Italy.  Spencer has just presented at two conferences within the week, one in San Francisco and one in Florence, Italy.  Fortunately, he was able to work us into his schedule and he didn’t even sound tired.

Of course, his topic was the Geno 2.0 test which is, of course, run on the new GenoChip.  The first results are in the final stages of testing, so we should see them shortly.  Sometime between the 19th and the end of the month.

This product comes with all new migration maps.  He showed one briefly, and I noticed that one of the two Native Y-lines are now showing different routes than before.  One across Siberia, which hasn’t changed, and one up the pacific rim.  Hmmm, can’t wait for that paper.

The new maps all include heat maps which show frequency by color.  The map below is a haplogroup Q heat map, but it is NOT from the Geno project.  I’m only using it as an example.

Spencer indicated that the sales of the 2.0 product rival those of the 1.0 product and that they have sold substantially more than 10K and substantially less than 100K kits so far.  In total, they have sold more than 470,000 kits in over 130 countries.  And that’s just the public participation part, not the indigenous samples.  They have collected over 75,000 indigenous samples from more than 100 populations resulting in 36 publications to date with another half dozen submitted but not yet accepted.  Academic publication is a very long process.

Nat Geo has given 62 legacy grants to indigenous communities that have participated totaling more than 1.7 million dollars.  That money comes in part from the public participation kits, meaning Geno 1.0 and now 2.0.

Geno 2.0 continues to be a partnership between National Geographic and Family Tree DNAFamily Tree DNA is running all of their samples in the expanded Houston lab.  Also added to the team is Dr. Eran Elhaik at Johns Hopkins University who has developed a new tool, AIMSFINDER, that locates never before identified Ancestral Informative Markers to identify population specific markers.  This is extremely important because it allows us to read our DNA and determine if we carry the markers reflective of any specific population.  Well, we don’t do the reading, they do with their sophisticated software.  But we are the recipients with the new deep ancestral ethnicity results which are more focused on anthropology than genealogy.  Spencer says that if you have 2% or more Native American, they can see it.  They have used results from both public and private repositories in developing these tools.

This type of processing power combined with a new protocol that tests all SNPS in a sequence, not just selected ones, promises to expand the tree exponentially and soon. It has already been expanded 7 fold from 863 branches of the Y tree to 6153 and more have already been discovered that are not on the GenoChip, but will be in the next version.

The National Geographic project will also be reaching out to administrators and groups who may have access to populations of interest.  For example, an ex-pat group in an American city.  Keep this in mind as you think of projects.

Another piece of this pie is a new educational initiative in schools called Threads.

This isn’t all, by any means, on this topic, I really do encourage you to go and use Twitter hashtag #ftdna2012.  Several of us were tweeting and the info was coming so fast and furious that no one could possibly get it all.

The future with Nat Geo looks exceedingly bright.  We have gone from the Barney Rubble age to the modern era and now there is promise for a rosy and as yet undiscovered future.

Judy Russell was next.  I have to tell you, when I saw where they positioned her, I was NOT envious.  I mean, who wants to follow Spencer Wells, even if he’s not there in person.  Well, if anyone was up to this, it certainly was Judy.  For those who don’t know, she blogs as The Legal Genealogist.

Judy is one of us.  That means she actually understands our industry, what drives genealogists and why.  In addition to being a lawyer, she is a certified genealogist and a genetic genealogy crazy too.  Maybe I shouldn’t call a lawyer crazy….well…it was meant as a compliment:)

Judy has the perspective to help us, not just criticize us remotely.  She reviewed several areas where we might make mistakes.  After all, we’re all volunteers coming from quite varied backgrounds.  She suggests that we all put some form of disclosure on our projects explaining what participants can expect in terms of use.  She used the Core Melungeon project as a good example, along with the Fox project.

“The goal of this project is to use DNA to better understand the origins of the Melungeon people, and this will be done by comparing the DNA with other project members, those outside of projects, and will incorporate relevant genealogical and historical research. All participants will be included in the ongoing studies and by joining the project, you are giving consent for your information to be anonymously included in ongoing genetic genealogy research. Your personal identity will not be revealed, but your results will be used to better understand the Melungeons as a people and their ancestors.”

From the Fox project:

“The exact function of these STR markers is not yet known and they have no known medical function but recent research shows they have some sort of regulatory function on the genes. While there is no medical information in these numbers, the absence of a certain few markers near a fertility gene could indicate sterility – something that would certainly already be known.

The results do provide a partial means of personal identification and, for this reason, our haplotype tables list only the FTDNA kit number and the most distant known male line ancestor. Within the project, however, the administrators feel free to disclose identities, particularly when a close match occurs.”

Judy’s stressed that we not tell people that there is no medical information revealed.  Partially, because we’ve discovered in rare cases that’s not true, and partially because we can’t see into the future.

Judy talked about regulation and that while we fear what it might intentionally or inadvertently do to genetic genealogy, it’s important to have regulations to get rid of the snake oil salesman, and yes, there are a couple in genetic genealogy.  They give us all a black eye and a bad name when people discover they’ve been hoodwinked. However, without regulation of some sort, we have no legal tools to deal with them.

Regulation certainly seems to be a double-edged sword.

I hope that Judy writes in her blog about what she covered in her session, because I think her message is important to all administrators and participants alike.  And just to be clear, the sky is not falling and Judy is not Chicken Little.  In fact, Judy is the most interesting attorney I have ever heard speak, and amazingly reasonable too.  She actually makes you WANT to listen, so if you ever get the chance to see one of her webcasts or attend one of her sessions, take the opportunity.

Following the break, breakout sessions began.  CeCe Moore ran one about “Family Finder,” Elise Friedman about “Group Administration” and Thomas Krahn provided the “Walk the Y Update.”  Bennett called this the propeller head session.  Harumph Bennett.  Guess you know which one I attended.  All sessions were offered a second time on Sunday.

Thomas said that they have once again upgraded their equipment, doubling their capacity again.  This gives 4 times the coverage of the original Walk the Y, covering more than 5 million bases.  To date, they have run 494 pre-qualified participants and of those, 198 did not find a new SNP.

There are changes coming in how the palindromic region is scored which will change the matches shown.  Palindromic mismatches will now be scored as one mutation event, not multiples.  Microalleles will able be reported in the next rollout version, expected probably in January.  The problem with microalleles is not the display, but the matching routine.

Of importance, there has not been an individual WTY tested from haplogroups B, M, D or S, and we need one.  So if you know of anyone, please contact Thomas.

Thomas has put his Powerpoint presentation online at  http://www.dna-fingerprint.com/static/FTDNA-Conference-2012-WalkThroughY.pdf

The next session by Dr. Tyrone Bowes was “Pinpointing a Geographical Location Using Reoccurring Surnames Matches.”  For those of us without a genetic homeland, this is powerful medicine.  Dr. Bowes has done us the huge favor of creating a website to tell us exactly how to do this.  http://www.irishorigenes.com/

He uses surnames, clan maps, matches, history and census records to reveal surname clusters.  One tidbit he mentioned is that if you don’t know the family ethnicity, look at the 1911 census records and their religion will often tell you.  Hmm, never thought of that, especially since our American ancestors left the homeland long ago.  But those remaining in the homeland are very unlikely to change, at least not in masse.  I’m glad he gave this presentation, or I would never have found his webpage and I can’t wait to apply these tools to some of my sticky-wickets.

This ended Saturday’s sessions, but at the end of every day, written questions are submitted for that day’s presenters or for Family Tree DNA.

Bennett indicated that another 3000 or 4000 SNPs will be added to the Family Finder calculations and a new version based on reference samples from multiple sources will be released in January.

Bennett also said that if and when Ancestry does provide the raw downloadable data to their clients, they will provide a tool to upload so that you can compare 23andMe and Ancestry both with your Family Finder matches.

Saturday evening is the ISOGG reception, also called the ISOGG party.  Everyone contributes for the room and food, and a jolly good time is had by all.  There is just nothing to compare with face to face communications.

For me, and for a newly found cousin, this was an amazing event.  A person named Z. B. Stroud left me a message that she was looking for me.  When I found her, along with her friend and cousin Revis, she tells me that she matches me autosomally, at 23andMe, and that she had sent me a sharing request that I had ignored.  I am very bad about that, because unless someone says they are related, I presume they aren’t and I don’t like to clutter up my list with non-related people.  It makes comparisons difficult.  My bad.  In fact, I’m going right now to approve that sharing request!!!

I will blog about this in the future, but without spilling too many beans….we had a wonderful impromptu family reunion.  We think our common ancestor is from the Halifax and Pittsylvania County region of Virginia, but of course, it will take some work to figure this out.

I’m also cousins with Revis Leonard (second from left).  We’ve known that for a long time, but Z.B. whose first name is Brisjon (second from right) is new to genealogy, DNA and cousin matching. I’m on the right above.  The Stroud project administrator, Susan Milligan, also related to Brisjon is on the left end.  In the center are Brisjon’s two cousins who came to pick her up for dinner and whom she was meeting for the first time.

But that’s not all all, cousin Brisjon also matches Catherine Borges.  Let me tell you, I know who got the tall genes in this family, and I’m not normally considered short.  Brisjon’s genealogical journey is incredibly amazing and she will be sharing it with us in an upcoming book.  Suffice it to say, things are not always what you think they are and Brisjon is living proof.  She also met her biological father for the first time this weekend!  I’m sure Houston and her 2012 visit where she met so many family members is a watershed event in her lifetime!  She is very much a lovely lady and I am so happy to have met her.  Cousins Rule!

ISOGG traditionally has its meeting on Sunday morning before the first session.  Lots of sleepy people because everyone has so much fun at the ISOGG party and stays up way too late.

Alice Fairhurst, who has done a remarkable job with the ISOGG Y SNP tree (Thank you Alice!) knows an avalanche is about to descend on her with the new Geno 2.0 chip.  They are also going to discontinue the haplogroup names, because they pretty much have to, but will maintain an indented tree so you can at least see where you are.  The names are becoming obsolete because everytime there is an insertion upstream, everything downstream gets renamed and it makes us crazy.  It was bad enough before, but going from 860+ branches to  6150+ in one fell swoop and knowing it’s probably just the beginning confirms the logic in abandoning the names.  However, we have to develop or implement some sort of map so you can find your relative location (no pun intended) and understand what it means.

Alice also mentioned that they need people to be responsible for specific haplogroups or subhaplogroups and they have lost people that have not been replaced, so if anyone is willing or knows of anyone….please contact Alice.

Alice also makes wonderful beaded double helix necklaces.

Brian Swann (sorry, no picture) is visiting from England this year and he spoke just a bit about British records.  He said it’s imperative to learn how they work and to use some of the British sites where they have been indexed.  He also reminded us to check GOONS (Guild of One Name Studies) for our surnames and that can help us localize family groups for recruiting.  He said that you may have to do family reconstructions because to get a Brit to test you have to offer them something.  That’s not terribly different from over here.  He also mentioned that today about half of the British people having children don’t marry, so in the next generation, family reconstruction will be much more difficult.  That too isn’t so terribly different than here, although I’m not sure about the percentages.  It’s certainly a trend, as are varying surname practices even within marriage.

Dr. Doron Behar began the official Sunday agenda with a presentation about the mtCommunity and a discussion of his recently published paper “A ‘Copernican’ Reassesement of the Human Mitochondrial DNA Tree from its Root.”  This paper has absolutely revolutionized the mitochondrial DNA community.  I blogged about this when the paper was first released and our home pages were updated.    One point he made is that it is important to remember is that your mutations don’t change.  The only thing that changes between the CRS (Cambridge Reference Sequence) and the RSRS (Reconstructed Sapiens Reference Sequence)  model is what your mutations are being compared to.  Instead of being compared to someone from Europe who live in 1981 (the CRS) we are now comparing to the root of the tree, Mitochondrial Eve (RSRS) as best we can reconstruct what her mitochondrial DNA looked like.

He also said that when people join the mtCommunity, their results are not automatically being added to GenBank at NCBI.  That is a separate authorization check box.

A survey was distributed to question participants as to whether they want results, when they select the GenBank option, to be submitted with their kit number.  Now, they are not, and they are under Bennett’s name, so any researcher with a question asks Bennett who has no “track back” to the person involved.  About 6000 of the 16,000 submissions today at GenBank are from Family Tree DNA customers.  Dr. Behar said that by this time next year, he would expect it to be over half.  Once again, genetic genealogy pioneers are leading the way!

At these conferences, there is always one session that would be considered the keynote.  Normally, it’s Spencer Wells when he is on the agenda, and indeed, his session was wonderful.  But at the 2012 conference, this next session absolutely stole the show.  Less public by far, and much less flashy, but at the core root of all humanity.

You can’t really tell from the title of this session what is coming.  Michael Hammer with Thomas Krahn and Bonnie Schrack, one of our own citizen scientists, presented something called “A Highly Divergent Y Chromosome Lineage.”  Yawn.  But the content was anything but yawn-material.  We literally watched scientific discovery unfold in front of our eyes.

Bonnie Schrack is the haplogroup A project administrator.  Haplogroup A is African and is at the root of the entire haplotree.  One of Bonnie’s participants, an African American man from South Carolina agreed to participate in WTY testing.  In a nutshell, when Thomas and Astrid began scoring his results, they continued and continued and continued, and wound up literally taking all night.  At dawn’s first light, Thomas told Astrid that he thought they had found an entirely new haplogroup that preceded any known today.  But he was too sleep deprived to be sure. Astrid, equally as sleep deprived, replied with “Huh?” in disbelief.  It’s certainly not a statement you expect to hear, even once in your lifetime.  This is a once in the history of mankind event.

Dr. Michael Hammer confirmed that indeed, they had discovered the new root of the human Y tree.  And not by a little either, but by a lot.  For those who want to take a look for yourself, Ysearch ID 6M5JA.  Hammer’s lab did the age projection on this sample, and it pushed the age of hominid men back by about 100,000 years, from 140,000 years ago to 237,000 years ago.  They then reevaluated the aging on all of the tree and have moved the prior date to about 200,000 years ago and the new one to about 338,000 years ago with a 98% confidence level.  This is before the oldest fossils that have been found, and also before the earliest mitochondrial DNA estimate, which previously had been twice as old as the Yline ancestor.

The previous root, A1b has been renamed A0 and the new root, just discovered is now A00.  Any other new roots discovered will simply get another zero appended.

How is it that we’ve never seen this before?  Well, it turns out that this line nearly went extinct.  Cruciani published a paper in 2012 that included some STR values that matched this sample, but fortunately, Michael Hammer’s lab held the actual samples.  A search of academic data bases reveals only a very few close matches, all in western Cameroon near the Gulf of Guinea.  Interestingly, next door, in Nigeria, fossils have been found younger than this with archaic features.  This is going to cause us to have to reevaluate the source of this lineage and with it the lineage of all mankind.  We must now ask the question about whether perhaps we really have stumbled upon a Neanderthal or other archaic lineage that of course “became” human.  Like many scientific discoveries, this answer only begs more questions.  My husband says this is like Russian tea dolls where ever smaller ones are nested in larger ones.

This discovery changes the textbooks, upsets the proverbial apple cart in a good way, and will keep scientists’ thinking caps on for years.  And to think, this was a result of one of our projects, an astute project administrator (Bonnie) and a single project member.  I wonder what the man who tested thinks of all of this. He is making science and all he thought he was doing was testing for genealogy.  You just never know where the next scientific breakthrough will come from.  Congrats to all involved, Bonnie, Thomas, Michael and to Bennett and Max for having this evolution revolution happen right in their lab!

If I felt sorry for Judy following Spencer, I really felt sorry for the breakout sessions following Thomas, Michael and Bonnie’s session.  Thankfully at least we had a break in-between, but most people were wandering around with some degree of stunned disbelief on their faces.  We all found it hard to fathom that we had been among the first to know of this momentous breakthrough.

I had a hard time deciding which session to attend, CeCe’s “Family Finder” session or Elise’s.  I decided to attend Elise’s “Advanced Admin Techniques” because I work with autosomal DNA with my clients and I tend to keep more current there.  Elise’s session was great for newer admins and held tips and hints for us old-timers too.  I realized I really need to just sit down and play with all of the options.

There are some great new features built in that I’ve never noticed.  For example, did you know that you can group people directly from the Y results chart without going to the subgrouping page?  It’s much easier too because it’s one step.  However, the bad news is that you still can’t invite someone who has already tested to join your project.  Hopefully that feature will be added soon.

The next session was “A Tale of Two Families” given by Rory Van Tuyl detailing how he used various techniques to discern whether individuals who did not show up as matches, meaning they were beyond the match threshold, were actually from the same ancient family or not.  Rory is a retired engineer and it shows in his attention to detail and affinity for math.

We always tell people that mutations can and do happen at any time, but Rory proved this.  He ran a monte-carlo simulation and showed that in one case, it was 50 generations between mutations, but in others, there was one mutation for three generations in a row.  Mutations by no means happen at a constant rate.  Of course, this means that our TIP calculator which has no choice but to use means and averages is by definition “not calibrated” for any particular family.

He also mentioned that his simulation shows that by about 150 generations, there are a couple of back mutations taking place.

The final session before the ending Q&A was Elliott speaking about IT, which really translates into new features and functions.  Let’s face it, today everything involves IT.

Again, I was having trouble typing fast enough, so you might want to check the Twitter feed.

They added the SNP maps (admins, please turn them on) and the interactive tour this year.  The tour isn’t used as much as it should be, so everyone, encourage your newbies to do this.

They have also added advanced matching, which I use a lot for clients, but many people didn’t realize it.  So maybe a quick tour through the website options might be in order for most of us.

They are handling 50 times more data now that a year ago.  Just think what next year will bring.  Wow.

They are going to update the landing page again with more color and more visible options for people to do things.  I hope they prompt people through things, like oldest ancestor mapping, for example.  Otherwise, if it isn’t easy, most don’t.

They are upgrading Population Finder and the Gedcom viewer.  They are adding a search feature.  Thank you!!  Older Gedcome will still be there but not searchable.

But the best news is that they are adding phasing (parent child) and an advanced capability to “reconstruct” an ancestor using more distant relatives, then the ability to search using that ancestral profile against Family Finder.  Glory be!  We are finally getting there.  Maybe my dreaming big wasn’t as far away as I thought.

They will also remove the 5 person autosomal download restriction and the “in common with” requirement to see additional information.  All good news.  They are also upgrading the Chromosome browser to add more filtering options.

They are also going to offer a developer “sandbox” area for applications.

The final Q&A session began with Bennett saying that their other priorities preclude upgrading Y search to 111 markers.

They are not planning to drop the entry level tests, 12 or 25 markers or the HVR1. If they do, lots of people will never take that plunge.  I was very glad to hear this.

And by way of trivia, Family Tree DNA has run more than 5 million individual tests.  Wow, not bad for a company that didn’t exist, in an industry that didn’t exist, 12 years ago!

It’s an incredible time to be alive and to be a genetic genealogist!  Thank you Family Tree DNA for making all of this possible.

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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

Native American DNA News

It’s a good DNA day for Native American DNA research.

Yesterday, I was talking to Bennett Greenspan at Family Tree DNA.  He knows of my interest in Native heritage.  Our conversation turned to the new Geno 2.0 chip, now called the GenoChip, and the expected ethnicity results relative to Native heritage.

It turns out that Bennett and Spencer Wells had just been talking about the same thing.  Spencer said that the GenoChip is exceptionally good at picking up Native American ancestry and that it’s one of the key features built into the autosomal SNPs they chose and the resulting admixture analyses.  Spencer says that as long as the admixture is above 2%, we’ll see it.

Two percent equates to between 5 and 6 generations.

I can’t wait to compare Geno 2.0 results of people who previously tested at 23andMe and with Family Tree DNA’s Family Finder, and especially those who showed the Middle Eastern percentage with the Family Finder test.

This information dovetails nicely with a new paper to be published in the American Journal of Human Genetics, the February 10th edition.

In this new paper, Dr. Theodore Schurr has used Y and mitochondrial DNA evidence collected from 500 Siberian people living in remote villages and more than 2500 Native Americans from Canada, the US and Mexico.  The paper confirms the homeland of the Native people in the Americans was originally the Altay Mountains in Siberia (photo above).  This isn’t new news, but it’s nice to have confirmation and it will be interesting to see the details in the paper.

In an article published this week by the National Geographic Society titled “Is this Russian Landscape the Birthplace of Native Americans?”, they mention that there is one marker in a male Y-line that mutated about 18,000 years ago and is still carried by Native men today.

http://news.nationalgeographic.com/news/2012/01/120203-native-americans-siberia-genes-dna-science/

I know that many recently discovered Y-line SNPs were included for haplogroup Q on the new GenoChip.  I’m very hopeful that the DNA of the Siberian people was vetted for new autosomal SNPs and included as well.  It’s likely, as Dr. Schurr, in addition to his work at the University of Pennsylvania is also the North American Director for the Genographic Project.

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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.

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Ancestry’s Mythical Admixture Percentages

“The Emperor’s New Clothes” is a tale by Hans Christian Andersen about two weavers who promise an Emperor a new suit of clothes that is invisible to those unfit for their positions, stupid, or incompetent.  When the Emperor parades before his subjects in his “new clothes,” no one wants to admit that they can’t see the kings clothes but a child cries out, “But he isn’t wearing anything at all!”

Ok, Ancestry’s emperor has no clothes, not a stitch.  I’m saying it outright – he is BUCK NAKED!!!

I’ve been exercising restraint, I’ve been trying not to say anything negative, then I was trying not to be overtly negative.  But you know, my patience has run out.  If you think this posting is harsh, well all I can say is that you should have seen the first few versions before I softened it substantially.

I grew up on a farm with a wonderfully eloquent step-Dad of very few and very simple words.  When he said anything, you listened.  According to Dad, if it looks like a duck, walks like a duck and quacks like a duck, it’s probably a duck….or in this case, it’s a naked emperor.

And I’m not done yet, in fact, I’ve only just begun.  Here, let me put it in a way that cannot be misunderstood…

Dearest Ancestry – We are NOT STUPID!  Make no mistake.  Nor are we lemmings.  Yes, I’m shouting, so Ancestry, sit down and listen up.

A day or so ago, someone posted this link showing a video where Ancestry provides some education on how to use their AncestryDNA results.  I applaud Ancestry (yes, I did say that) for providing this educational tool, but some of the content simply infuriated me.  It insults the intelligence of all genealogists.

http://www.youtube.com/watch?v=KiClHKiWcGI&feature=youtu.be

I spent decades in the technology industry and I understand beta code.  I understand pre-release and release and tweaking.  I understand making a mistake, and fixing it.  And I understand being the “last kid” on the block to play the game. If you want to compete, being last and late with a less than stellar reputation, you have to offer something to attract people, or have a captive audience, or both.  Enter Ancestry’s AncestryDNA $99 autosomal test.

The problem is that their admixture percentages are simply WRONG.  Period.  Not a “tiny error”, not “needs tweeking,” utterly, entirely wrong.  Throw it out and start over wrong.  There are no secret Scandinavians hiding in the bushes, or in everyone’s family tree, and the fact that they are embracing their error and trying to turn a dime by telling people that they DO have a huge amount of mythical Scandinavian blood and they just need to use Ancestry’s tools to search longer and harder is not only infuriating, it’s unethical and self-serving.

Several bloggers and others have pointed out that after taking many of these types of tests, Ancestry’s results are the only ones showing large amounts of Scandinavian heritage.  So every other company and population geneticist is wrong and Ancestry has made a monumental discovery?

Ancestry has been put on notice by many individuals.  The gal, Crista, in this video who has the unfortunate job of telling this whopper publicly and attempting to convince you of this newly found “truth” even said that people have been challenging those results and are “confused.”  No doubt, they should be.

But instead of looking at the reference population data validity (that Ancestry refuses to share), or the math, for possible issues, Ancestry is lauding this inherent error as a discovery, as stated by their executives at recent conferences and elsewhere in the press, and using is it as a marketing ploy.  Well, it is the season for politics and “spin” but this is reprehensible.

Christa Cowan, on this video, uses her own father’s results and genealogy as an example.  He has 47% Scandinavian ethnic percentage according to Ancestry, yet his pedigree chart showed line after line of Scotland, England and Wales as his ancestral origins, with holes, of course, representing brick walls, like we all have.  Crista was trying to convince us, and probably herself too, that in spite of all that British Isles ancestry, and no discernible Scandinavian pedigree heritage, that in fact this was ALL attributed to Scandinavian ancestors – because her father had NO British Isles heritage, according to Ancestry.

Here’s a screen shot of his results, from the video.  The video resolution was poor, so this is too, but you can still see that Scandinavia is colored blue and the British Isles have no coloration.

Crista said “We’re discovering that there is a lot of Scandinavian blood out there.”  No, Crista, you’re discovering that you have been offered up as a sacrificial lamb by a naked emperor.

Let’s look at this another way.  Crista said that she knows 365 of the 1022 people who are her 7th generation ancestors.  If that is true, then she knows 36% of them.  That means, since there seem to be no Scandinavian ancestors in that 36% (isn’t that amazing), that the balance of the 47% of that ancestry, or another 480 ancestors are Scandinavian, and she has managed to somehow in her genealogy miss every single one of those 480 and find 365 others who weren’t Scandinavian.

Do you really believe that half of her ancestry is Scandinavian and she managed to miss all of them in the one third she has discovered?  Unlikely.  Crista, if you’re really that unlucky, don’t even bother to buy a lottery ticket.

Crista said that none of her Scotland, Wales and England ancestors showed up as British Isles because this test is picking up deep ancestry.  Really?  So all of those people married other people of Scandinavian heritage in the British Isles and none, not one, married Angles, Saxon, Jutes, Celts or Picts from the British Isles for the hundreds or thousands of years they lived there?  Now that is absolutely amazing.  How do you propose that happened?  Were there records to keep that all straight in secret guilds someplace?  For a conspiracy of that magnitude to work, there must have been records.  Where are they and where is the history of that conspiracy?  Or are those ethnic groups supposed to show up as Germanic?  That would mean that no one shows up as British Isles because everyone was continental before migrating to the British Isles.  So we’re supposed to believe that Ancestry is picking up ancient ancestry but nothing contemporary, nothing from the British Isles in hundreds or thousands of years?  And how does that happen, exactly?

Now we know that mutations have happened in the British Isles in the thousands of years they have been inhabited and those mutations are measureable.  Anyone with any doubts, just refer of the Niall of the 9 Hostages Y-line mutation (R-M222) in haplogroup R, among others.  So what we’re supposed to believe is that pretty much everyone came from Scandinavia and they had some very effective secret club that kept them from ever marrying anyone from the British Isles?  Does this sound ridiculous to you?  Well, it does to me too.

Ok, so if Ancestry has made such a monumental discovery, why then has this not been documented and academically published?  Other companies do this in conjunction with academia.  Perhaps because this is based on flawed science?  It looks to me like it’s worse than guessing.  Could it be intentional?

I know that some of Ancestry’s AncestryDNA customers have British Isles ethnicity percentages, because I do.  Here is a screen shot of my results at Ancestry.

You’ll notice that I have 80% British Isles, 12% Scandinavian and 8% uncertain.

Some years back, I did a pedigree analysis of my genealogy in an attempt to make sense of autosomal results from other companies.

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

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

Geography Percent
Germany 23.8041
British    Isles 22.6104
Holland 14.5511
European by   DNA 6.8362
France 6.6113
Switzerland .7813
Native   American .2933
Turkish .0031

This leaves about 25% unknown.  However, this looks nothing like the 80% British Isles and the 12% Scandinavian shown by Ancestry.  Where are my heavily German lines?  I have the German church records for generations on many families.  Where are my Dutch lines?  I have those records too.  And France, I have records there too?  Where are they and how are they represented at Ancestry?

They aren’t just incorrect, they are entirely absent, and in their stead, more British Isles and Scandinavian.  And no, I’m not buying the concept that half of my unknown 25% is really Scandinavian.  Sorry.  Try again.

So, here we are.  Ancestry is wrong, blatantly, unquestionably wrong, and arrogantly so.  Instead of testing and comparing against known and proven genealogies and pedigree charts before release, they have plowed new ground and invented Scandinavian ancestry where it doesn’t exist.  They have ignored hundreds, probably thousands of people who have documentation, and have complained, instead trying to convince the Crista’s of the world, along with the rest of us, that despite their well-documented ancestry in the British Isles, that they have none and instead they are Scandinavian.  Ditto my German, Dutch, etc.

Everyone makes mistakes.  People and companies with integrity step up as soon as a problem is identified, take responsibility, apologize (that goes a long way) and then they fix the problem.  But Ancestry not only didn’t test adequately, they won’t even consider that there might be a problem, they are arrogantly claiming “discovery” when in fact, they are a buck naked emperor extolling their own virtues because certainly no one else will.  They are insulting our intelligence and demeaning our ancestry.  With it they are sacrificing their own integrity.  Indeed, as my old farmer Dad used to say, integrity is like virginity, you only get to lose it once.  Yea, Dad, you’re right.  Ancestry’s is long gone.

It’s a shame that our own genealogy is being exploited, used as a tool by Ancestry to manipulate us by virtue of their flawed science and results to “stay subscribed” and to search for ancestors we can never find because they don’t exist.  That’s a pretty good marketing ploy, right up until someone exposes the truth.  According to Ancestry, it’s not that they have bad science, but that we have bad genealogy.  Really?  All of us?

Shame on you Ancestry.  I don’t believe this is an error or a mistake anymore.  Companies fix mistakes, not exploit them.  I would hate to think this was an intentional marketing or promotional ploy.  I wonder how the people responsible for this can look at themselves in the mirror every morning, knowing what they are doing with and to our genealogy, exploiting their customers, defiling our ancestry, which genealogists consider to be sacrosanct.

I encourage everyone to do a basic pedigree analysis and send your results to Ancestry.  Let them know if your ethnic percentages are substantially wrong.  They need to hear your voice and apparently, many voices, before they are willing to take notice.  Even if they don’t answer, they can apparently count, judging from their recent decision to release the raw autosomal data in 2013 after input from customers.

So let me say this again.  We are NOT STUPID and we are NOT SILENT.  Ancestry, you need to step up, fess up and FIX this problem, now.  It’s time to do the right thing.

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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

Native and African American Houses – University of Illinois at Urbana-Champaign

This week I was honored to speak at the University of Illinois at Urbana-Champaign.  These speaking engagements were different than anything I’ve ever participated in.  I’ve done quite a bit of university speaking, but generally conferences.  These events were different because the students themselves from these two Houses invited me and funded my visit.  To say I felt a great obligation to find a way to connect to them is an understatement.

Normally my audience consists of genealogists, and sometimes civic groups, but generally not young people ranging in age from 18 to 22 or so, plus grad students.  These folks were born in the 1990s for the most part and ancient history to them is anything before cell phones.  They were only about 10 years old when social networking in the form of My Space was launched, so they’ve never know a world without the internet, electronic gadgetry and social networking.  I was extremely glad I had my two blogs to offer them.

I thought about how they might perceive DNA and genealogy, and I changed the presentation entirely, approaching it from a different perspective – that of personal genetics.  While this new field started in 1999 as a genealogical endeavor (thank you Bennett Greenspan), it has moved far from its original genesis.  Today we have a toolbox full of tools that can answer different questions for us, in various ways.  For these bright young people full of potential, personal genetics will be with them their entire lives and it won’t be a frontier like it is for us, but a way of life.  My presentation was entitled “The Gift of You” and it discussed genealogy of course, but deep ancestry, health, ethnicity and “cousinship” using fun examples.  I also passed out candy when I got answers, which helped a lot:)  Food, the most common denominator.

While all 4 sessions were sponsored by both the African American and Native American Houses, 2 sessions were held at the Bruce B. Nesbitt African American Cultural Center, 1 at the Native American House and the final presentation in a larger auditorium venue.  All sessions were open to all students and the public as well, and indeed were attended by a wide variety of people with very interesting and diverse backgrounds.

I was particularly impressed with the regular luncheon, with speakers, held by the African American House, entitled “Food for the Soul.”  I wish I lived close enough to attend as many of the topics are very interesting.  This event was very well attended.

After each of the 4 sessions, several people stayed and discussed various aspects of genetic testing, genealogy and career paths.

I can’t even begin to express how hopeful this trip made me.  These young people who attended these sessions are bright and forward thinkers.  They are involved in supportive and nurturing programs through the two Houses as well as the academic curriculum at the University of Illinois.  They are encouraged to reach beyond the known horizons.  And yes, some of them are interested in genealogy too.  I’m hopeful that there will be someone to pass that torch to someday!

I want to share with you a conversation I had with one young man who stayed after the session at the Native American House.  He is mixed Caucasian, Peruvian, Chinese and Jewish, born in California, an extremely culturally diverse place.  He is a graduate student in the Communications/Medical program meaning at the end of 8 long years, he comes out the other end with an MD degree and a PhD.  And he is bright, very, very bright, compassionate and pleasant.  I don’t know where he’s going to practice, but I want him to be my doctor!

He shared with me part of his story.  Between his undergrad and graduate school, he embarked on a journey of discovery.  He tracked his grandmother’s life backwards. He began at her grave in Israel, journeyed through China where they sought refuge from the holocaust, and where his grandmother’s mother died of a “female disease.”  From there he went back to Germany where the family had escaped the holocaust.  During this time he discovered that his mother and he both carry the BRCA1 gene which produces a hereditary breast-ovarian cancer syndrome.  Another family member indeed has this disease today.  His profound interest in his family history and this mutation led to a discussion about epigenetics and the ENCODE project which revealed that what was once considered to be junk DNA isn’t junk afterall.  And then, the question:

“What if we could use epigenetics to turn OFF the BRCA1 gene?”

I told him, I’m way beyond my level of expertise, but the fact that this extremely talented young man is pondering this question, and has a very personal impetus to answer it is one of the most promising and hopeful events I’ve witnessed in a very long time.  This truly is the gift of our ancestors, in so many unseen and unspoken ways.

The art at the beginning of this article, titled “Elevator”, by Sol Aquino, 2003 (acrylic on canvas) featured on the SACNAS brochure I picked up at the Native American House portrays this connection is a most profound way.

During these two days, I got to spend time with Rory James, the Director of the Bruce B. Nesbitt Center, and with Jamie Singson, the Director of the Native American House, and the staff and volunteer students at both facilities.  I was extremely impressed with the knowledge of both of these gentlemen and their heartfelt concern for the students, their education and their futures.  I know that these men and their staff will shepherd these students and provide them with ongoing opportunities to learn about their history and how it connects with their futures as they complete their more structured academic studies.  I wish facilities like this had been in place when I was a student.

The attendees were extremely diverse, in terms of racial and cultural makeup, in terms of student versus community members, age, and in terms of their interests relative to personal genetics.  Their stories were both amazing and inspirational.

I think that Jamie Singson summed it up perfectly at the end of the final session as we walked through the cool evening air back to the Native American House from the auditorium.  People had stayed for an additional couple of hours after the presentation and a small group of about 5 of us had a very enlightening and lovely discussion.  Jamie said, “What I take away from this is how much everyone wants to belong and to find the place where they fit in.”

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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

Matches – Family (IBD) vs Population (IBS)

Recently, I received the following query from one of our blog followers.

Family Finder matches are based on autosomal DNA inherited from both male and female sides of the family. The FAQ indicates that we may share some autosomal DNA with cousins beyond genealogical times “as remote as 20th cousins.”    Population Finder ethnic admixture percentages are also based on autosomal DNA, but cover a range of 100 to 2000 years (up to 80 generations), according to the Population Finder FAQ.  Why does the ethnic admixture calculation extend over a longer period than the Family Finder matches, since both are based on (the same?) autosomal DNA?”

This is a great question.  Let’s look at autosomal DNA and how DNA works, and we’ll soon see why genealogical and anthropological (ethnic admixture) DNA overlap.  And by the way, kudos for reading the FAQ!

In each generation, the child receives half of their DNA from Mom and half from Dad.  As you look back in time, you can see the inheritance percentages, approximately, in the table below.  Why do I say approximate?  Because when the DNA of Grandma and Grandpa that Mom (or Dad) carries is being selected to be passed on to the child, there may be a little more or less of Grandma or Grandpa’s so while the child does receive exactly 50% from Mom and Dad, they don’t receive exactly 25% from each grandparent.  It could be 60-40 or even just 49-51.  It’s here that things begin to get complicated.

Generation Percent of DNA carried by the current Generation
Parents 50%
Grandparents Approximately 25%
Great-grandparents Approximately 12.5%
GG-grandparents Approximately 6.25%
GGG-Grandparents Approximately 3.125%
GGGG-Grandparents Approximately 1.5625%
GGGG-Grandparents Approximately 0.7813%

You can see that in just 7 generations, we are below the threshold of 1%.  This is why Family Tree DNA says that their ethnicity prediction is reliable through about the 5th or 6th generation.  Beyond that, you’re at less than 1% of any one GGGG-grandparent.

Over time, the DNA from any specific ancestor, especially one from 20 generations ago is likely to “wash out”, meaning that in the next generation, the child is less and less likely to receive anything from that ancestor, and what they do receive would be in increasingly small pieces.  However, that’s not always true, because we clearly do inherit our DNA from someone.

So let’s look at an example using the Family Finder Chromosome Browser from Family Tree DNA which allows you to compare the inherited pieces of DNA of multiple people.

The graphic above shows the comparison of my mother to me, shown in orange, and then to a Miller cousin, shown in blue.  My mother and I share half of all of our DNA, so my orange matches her on every chromosome.

My mother and the Miller cousin, shown in blue, share a great grandparent, John David Miller.  So both the Miller cousin and my mother could expect to inherit approximately 12.5% of their DNA from that Miller great-grandparent.  While they wouldn’t inherit exactly the same DNA from that Miller grandparent, they would very likely inherit some of the same DNA from John David Miller.  In fact, they could expect to inherit approximately 3.12% of the same DNA from him.

Looking at chromosome 5, for example, you can see that Mom and her Miller cousin share a total length of 62.18 cM (centimorgans, a unit for measuring genetic linkage, the distance between chromosome positions).

If you look at my comparison, below, with Mom and the Miller cousin, again, shown in blue, you can see that I inherited 33.13 cM of the same DNA, slightly more than half (53%) of the Miller DNA that Mom shares with her cousin.

You can also choose to view this data in a table.

Mom’s table, above, shows that the length of 62.18 cM is comprised of 14,024 individuals SNPs.  For me, the same table, below, shows that my inheritance on chromosome 5 is really in 2 separate segments.  The 33.13 segment contains 8100 SNPs, so more than half of the number (57%) my Mom’s carries.  A second segment of 2.14 cM carries 500 SNPs for total Miller inheritage on chromosome 5 of 8600 SNPs (61%) .  Why didn’t the second segment show up on the Chromosome Browser?  Because I have the threshold set at 5cM, the default.  In the card shuffle between Mom and Dad that decided which SNPs I received, a little segment of Mom’s other parent’s DNA got inserted in the Miller segment, so the Miller segment was no longer intact, but pieces of it are still there and one piece is large.

You can change the cM threshold, but for people who are not known to be family, 5cM is a reasonable threshold to differentiate between identical by state, IBS which means happenstance or a common root population, and identical by descent, IBD, because you share a common ancestor in a genealogical timeframe.

This Miller comparison is a good example of how SNPs are inherited and shows that while approximately 50% of the DNA from each of your ancestors gets inherited in every generation, it’s never really exactly 50%, either in length or in the number of SNPs inherited.  It also shows how larger blocks of DNA are broken into smaller segments in each generation and how chunks move from being IBD to IBS over time and mutiple inheritances.

SNPs, or single nucleotide polymorphisms, are the basic unit of inheritance.  We look at 4 nucleotides to determine the condition, or state of that SNP.  Sometimes SNPs repeat, are in essence strung together, and these are the STRs, short tandem repeats, we are so familiar with in the Y chromosome in genetic genealogy.  These are our markers and the marker values are the number of repeats at marker location 390, for example.

Most of the time, we’re just looking at one SNP location and the nucleotide held at that location.  The magic of course, is when there are many of these nucleotides that are found in common as a group.  A large grouping indicates a common ancestor, like we’ve seen above.

However, for population genetics, the individual nucleotides and groupings of smaller segments are very important, because just like large blocks indicate families and common genealogical ancestry, smaller blocks indicate common populations.  This is how population geneticists identify populations, and how tools like Population Finder identify specific populations from which we descend.  Populations, however, blend, so this is rarely cut and dried, but occasionally, it is.

The Duffy-Null allele is a great example.  The Duffy Null allele is found only in African populations, and is therefore an important informative marker to determine African heritage.  Currently this marker is found in about 68% of American blacks and in 88-100% of African blacks.  If you have the Duffy Null allele, you have African heritage.  Of course, you don’t know which line or which ancestor it came from, but it assures you that you do in fact have African Heritage  This is one of the factors considered when determining percentage of ethnicity.

The relevance of the Duffy Null allele is determined by the number of other “African” markers that appear in high quantity.  If there are few other African markers, then African ancestry was likely further back in time.  If there are many, then African ancestry was likely more recent.  These statistical calculations are how the importance of autosomal markers is determined and how percentages or estimates of ethnicity are calculated.

Most of the time, SNPs and clusters of SNPs aren’t this specific and are found in many populations in varying frequencies. It’s learning how to put this puzzle together, or rather, tease it apart, that keeps population geneticists busy.

What all of this really means is that genealogical relatedness and population relatedness aren’t really two different things, but two different ends of a continuum where genealogical relatedness is evident by a high number of cMs and contiguous SNPs that match.  We saw that in the Miller example.

We know that if two people only show matches if you adjust the threshold to 1cM, for example, they are likely IBS, or only related via a population or region of the world.

However, it’s the grey area inbetween that becomes confusing.  For example, trying to determine whether someone who might be a cousin really is, or not, based on very small matching DNA segments.  For situations such as these, the best answer is to test more cousins to see if they may have inherited differently.  I guess that’s both the bad news and the good news in autosomal genetic genealogy, there’s always hope (and clarity) if you just test more people!!!

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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