Ethnicity is Just an Estimate – Yes, Really!

Lots of people will have received DNA tests as gifts over the holidays. This pleases me to no end, because I know I’ll match any number of them and maybe, just maybe, those matches will help me fill in those pesky blanks in my tree or break down brick walls.

However, for the most part, those testers probably aren’t genealogists, at least not yet. They are most likely curious about “who they are” or didn’t even realize they might be curious about anything until they unwrapped that gift and discovered a DNA test inside.

Let’s hope they test with one of the major 4 companies, being Family Tree DNA, MyHeritage, Ancestry or 23andMe. (Sale prices are still in effect.) Some additional firms are certainly reputable and provide ethnicity only tests (meaning no matching), such as the Genographic Project, LivingDNA and Insitome, but then there are also a growing number of questionable pop-up DNA testing, upload sites and interpretation “services.” And yes, I’m using that word loosely. Buyer beware.

For genealogists, the gold is in the cousin matching. We already know that DNA is more than ethnicity, and ethnicity is far more than percentages.

Ethnicity, for the most part, is a shiny red bauble that the magic wand of advertising transforms from a diamond in the rough into the glittery Hope diamond with a free kilt to lederhosen conversion (or vice versa) thrown in to boot.

Ethnicity bauble

Yay – Results are Back

Everyone who received DNA test kits during the holiday season has hopefully spit or swabbed and mailed and is now waiting excitedly. Waiting is always the hardest part!

Soon, they will be discussing their ethnicity results. Reactions will vary, swinging like a pendulum – and you may well get to help interpret.

  • Some people will be thrilled because their results will confirm what they see or believe and their family stories. For example, if their family carries oral history of a Native American ancestor and their DNA ethnicity results show Native American heritage, they’ll be thrilled.
  • Some people will be pleasantly surprised with whatever information they receive – treating their ethnicity results as a nice package to unwrap, regardless of what’s inside.
  • Another large group will be confused? My mother said her grandmother was French! Why don’t I see France? Substitute <country of your choice> for French/France.
  • And then we have the truly upset. The distraught. The entirely disbelieving. “My great-grandmother was a full-blood Cherokee. Why don’t I show Native American? These tests are wrong!”
  • Some people will doubt their parentage based on ethnicity results alone. This is NOT under any circumstances appropriate. Please have them read Ethnicity and Physical Features are NOT Accurate Predictors of Parentage or Heritage.

Explanations

To help people understand, you may need to explain about how Native Americans, especially east of the Mississippi were admixed very early in our national history, so their “fully Native” ancestor probably wasn’t.

You can explain about how autosomal DNA is diluted in each generation since their Native (or French, or Italian, etc.) ancestor lived – to the point that the Native DNA might not show today.

You can talk about reference populations, or the lack thereof, and that people in France and Israel can’t legally take DNA tests for recreational purposes.

You can educate people about how we all need to research our genealogy, and how, as Blaine Bettinger writes in this classic article, we have both a genetic and genealogical tree. The ancestors are always there in our tree, but we may not have inherited measurable DNA from a particular individual if they are several generations back in time.

If that coveted Native ancestor doesn’t appear in their DNA, then they need to look in their family tree. She or he might be waiting there, AND, they may still be able to prove their Native heritage using either Y or mitochondrial DNA testing at Family Tree DNA.

There’s more than one kind of DNA and more than one way to prove Native heritage.

The Underlying Truth

But the truth of the matter is, while each and every one of those statements above is entirely valid, the fundamental truth about ethnicity testing is that…

Ethnicity percentages.png

Yes, really.

Let’s take a look at some of the reasons why.

Size Matters

Everyone in the Americas (except for Native American, First Nations or aboriginal peoples) wants to know where their ancestors “came from.” As genealogists, we deal with no records, damaged records, misplaced records, burned records, rapid westward migration with no links “back home” and at least three wars on our soil. It’s no wonder that we often can’t track those ancestors back across the pond or even to the shore.

Therefore, we hope that DNA testing can help us bridge that gap. And indeed, both Y and mitochondrial DNA testing is wonderful for doing just that for matrilineal and patrilineal lines.

But ethnicity results, in most cases, are really only useful for making continental-level discoveries. What we really want, refinement and granularity to the country level within Europe, for example, isn’t really feasible.

Size is part of the reason why. Look at the size of the contiguous 48 US states as compared to Europe, courtesy thetruesize.com.

Ethnicity US over Europe.png

Would you expect to be able to tell the genetic difference between people that live in Washington State from people that live in Idaho? That’s roughly the same distance as from the UK to Germany. France is located down in California and Nevada.

Can you tell the difference genetically between people who live in Washington State from California or Nevada? That idea sounds rather preposterous when you look at it that way. Now, is it any wonder that your ancestor’s “French” doesn’t show up, but German does?

Ethnicity Texas over Europe

Here’s Texas compared to Europe. Can you tell the people in Dallas from the people who live in San Antonio from the people who live in Houston, genetically? That’s the same difference as Germany, Italy and Austria. The Czech Republic is over near Shreveport. You get the drift.

Western European Countries are the Size of US States

Western European countries are even more difficult.

Ethnicity states over Europe

How about discerning the difference between Indiana and Illinois residents, or Illinois and Missouri? European countries are the size of medium sized US states. Larger states, like Texas cover most of the Iberian Peninsula including Spain and Portugal and reach over into Morocco.

To make this relatively small region even more complex, people have moved freely across these areas for thousands of years. The people from the Russian Steppes moved into Eastern Europe displacing and assimilating with the hunter-gatherer population that had resided there for millennia.

The Germanic tribes moved towards the coast and into the British Isles. The people from “Indiana and Ohio” moved into “Illinois” and then that entire group populated parts of Scandinavia. According to a recent genetic paper, some of those “New Yorkers” and on east moved into Scandinavia too.

Oh, and the Sephardic Jewish people moved from the Middle East into “Texas” aka Spain and then on up to “Indiana, Ohio and Pennsylvania” some 500 years ago to join their Ashkenazi brethren. Fortunately, Jewish people generally stayed together and didn’t intermarry or assimilate much into the local population, so we can still identify them genetically.

Europe is indeed a great melting pot.

Ethnicity Alaska and states over Europe and Asia

Adding the largest US state, Alaska onto the map makes the rest of the states and their corresponding European countries look really tiny.

Ethnicity is Really Only Reliable at a Continental Level

Ethnicity really is only reliable at a continental level, plus Jewish and in particular, Ashkenazi. Very small or trace percentages may not be reliable at all. We’ll discuss ways to prove or disprove minority admixture in my next article, Minority Ethnicity Percentages – True or False?.

This continental-level-only phenomenon is more understandable if you look at a world map.

Ethnicity continents

It’s extremely difficult to discern any reliable level of granularity between regions as tiny as US states in Europe, no matter how badly testers want to know. Of course, that doesn’t keep the testing companies from trying, and kudos to them. As they make improvements, your intra-continental estimates will change over time – so don’t fall in love with them. And don’t trade that lederhosen for a kilt or vice versa – or get that Viking tattoo just yet.

It’s much more reasonable to rely on ethnicity estimates based on much larger regions, where people after migration have been separated from people in the other regions for a much longer period of time, allowing time for unique mutations to develop.

Less admixture happens with greater geographic distance. People who aren’t neighborly don’t produce offspring because begetting requires proximity. Mutations that occurred after the populations split into different regions are found only in the new or the old populations, but not both – at least not in high frequencies. Of course, population boundaries are fluid and people (continue to) move from place to place, back and forth.

What You Can Do!

When your family and friends begin to discuss their confusion or disappointment with their ethnicity results, you’ll have this article to explain the situation visually. Please feel free to share and encourage them to learn more.

Sometimes it’s difficult to be the cold voice of reason in a positive way, but there is so much more to learn. I always hope to spark curiosity about why, and then provide ways that the person can fall in love with discovering their ancestors and ancestry.

Another good resource is the article, Ethnicity Testing – A Conundrum which explains how DNA ethnicity testing actually works – in terms that everyone can understand.

If your family is wondering what happened to their Native American DNA, you’re not alone. I’ve put together a page of Native American Resources to help everyone!

Have fun, enjoy and let’s hope that newly baptized ethnicity testers will like the water enough to engage in a bit of genealogy. You can encourage them by helping construct their first tree by recording what they know about their parents and grandparents. Maybe give them a taste of success by helping them find a record or two. Give them a taste of genealogy crack.

You never know, it just might be habit forming!

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Disclosure

I receive a small contribution when you click on the link to one of the 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.

When DNA Leads You Astray

I’m currently going through what I refer to as “the great purge.”

This occurs when you can’t stand the accumulated piles and boxes of “stuff” and the file drawers are full, so you set about throwing away and giving away. (Yes, I know you just cringed. Me too.)

The great news is that I’ve run across so much old (as in decades old) genealogy from when I first began this journey. I used to make lists of questions and a research “to do” list. I was much more organized then, but there were also fewer “squirrel moments” available online to distract me with “look here, no, over here, no, wait….”

Most of those questions on my old genealogy research lists have (thankfully) since been answered, slowly, one tiny piece of evidence at a time. Believe me, that feeling is very rewarding and while on a daily basis we may not think we’re making much progress; in the big picture – we’re slaying that dragon!

However, genealogy is also fraught with landmines. If I had NOT found the documentation before the days of DNA testing, I could easily have been led astray.

“What?”, you ask, but “DNA doesn’t lie.” No, it doesn’t, but it will sure let you kid yourself about some things.

DNA is a joker and has no problem allowing you to fool yourself and by virtue of that, others as well.

Joke’s On Me

Decades ago, Aunt Margaret told me that her grandmother’s mother was “a Rosenbalm from up on the Lee County (VA) border.”

Now, at that time, I had absolutely NO reason to doubt what she said. After all, it’s her grandmother, Margaret Claxton/Clarkson who she knew personally, who didn’t pass away until my aunt was in her teens. Plenty close enough to know who Margaret Claxton’s mother was. Right?

DNA Astray Rosenbalm

Erroneous pedigree chart. Rebecca Rosenbalm is NOT the mother of Elizabeth Claxton/Clarkson.

I filled Rebecca Rosenbalm’s name into the appropriate space on my pedigree chart, was happy and smugly smiling like a Cheshire cat, right up until I accidentally discovered that the information was just plain wrong.

Uh oh….

Time Rolls On

As records became increasingly available, both in transcribed fashion and online, Hancock County, TN death certificates eventually could be obtained, one way or another. Being a dutiful genealogist, I collected all relevant documents for my ancestors, contentedly filing them in the “well that’s done” category – that is right up until Margaret Clarkson Bolton’s death certificate stopped me dead in my tracks.

margaret clarkson bolton death

Oops

Margaret’s mother wasn’t listed as Rebecca Rosenbalm, nor Rebecca anyone. She was listed as Betsy Speaks. Or was it Spears? In our family, Betsy is short for Elizabeth.

Who the heck was Elizabeth Speaks, or Spears. This was one fine monkey wrench!

A trip to Hancock County, Tennessee was in order.

I dug through dusty deed and court records, sifted through the archives in basements and the old jail building where I just KNEW my ancestors had inhabited cells at one time or another.

Yes, my ancestor’s records really were in jail!

Records revealed that the woman in question was Elizabeth Speaks, not Spears, although the Spears family did live in the area and had “married in” to many local families. Nothing is ever simple and our ancestors do have a perverse sense of humor.

Elizabeth Speak(s) was the daughter of Charles Speak, and the Speak family lived a few miles across the border into Lee County, Virginia. This high mountain land borders two states and three counties, so records are scattered among them – not to mention two fires in the Hancock County courthouse make research challenging.

Why?

I asked my Aunt Margaret who was still living at the time about this apparent discrepancy and she told me that the Rosenbalms “up in Rose Hill, Virginia” told her that her grandmother, Margaret Claxton/Clarkson was kin to them, so Margaret had assumed (there’s that word again) that Margaret Claxton’s mother was their Rebecca Rosenbalm.

Wrong!

The Kernel of Truth

Like so many family stories, there is a kernel of truth, surrounded by a multitude errors. Distilling the grain of truth is the challenge of course.

Margaret Claxton’s mother was Elizabeth (Betsy) Speak and her father was Charles Speak. Charles Speak’s sister, Rebecca married William Henderson Rosenbalm in 1854, had 4 children and died in February 1859. So there indeed was a woman named Rebecca (Speaks) Rosenbalm who had died young and wasn’t well known.

Rebecca’s sister Frances “Fanny” Speak also married that same William Henderson Rosenbalm in November 1859, a few months after Rebecca had died. Fannie also had 4 children, one of which was also named Rebecca Rosenbalm. Do you see a trend here?

So, indeed there were 7 living Rosenbalm children who were first cousins to Elizabeth Speak who married Samuel Claxton and lived a dozen miles away, over the mountains and across the Powell River. Now a dozen miles might not sound like much today, but in the mountains during horse and wagon days – 10 miles wasn’t trivial and required a multi-day commitment for a visit. In other words, the next generation of the family knew of their cousins but didn’t know them well.

The following generation included my Aunt Margaret who was told by those cousins that she was related to them through the Rosenbalm family. While, that was true for the Rosenbalm cousins, it was not true for Aunt Margaret who was related to the Rosenbalms through their common Speak ancestor.

Here’s what the family tree really looks like, only showing the lines under discussion.

DNA astray correct pedigree

You can see why Aunt Margaret might not know specifics. She was actually several generations removed from the common ancestor. She knew THAT they were related, but not HOW they were related and there were several Rebecca’s in several branches of the family.

Why Does This Matter?

You’ve probably guessed by now that someplace in here, there’s a moral to this story, so here it is!

You may have already surmised that I have autosomal DNA matches to cousins through the Rosenbalm/Speaks line.

DNA astray pedigree match

This is one example, but there are more, some being double cousins meaning two of Nicholas Speak’s 11 children’s descendants have intermarried. Life is a lot more complex in those hills and hollers than people think – and unraveling the relationships, both paper and genetic (which are sometimes two different things) is challenging.

DNA astray chromosome 10.png

I match this fourth cousin once removed (4C1R) on a healthy 18 cM segment on chromosome 10.

Wrong Conclusions

Now, think back to where I was originally in my research. I knew that Margaret Claxton/Clarkson was my aunt’s grandmother. I knew nothing at all about the Speak family and had never heard that surname.

Had I ONLY been looking to confirm the Rosenbalm connection, I certainly would have confirmed that I’m related to the Rosenbalm family descendants with this match. Except the conclusion that I descend from a Rosenbalm ancestor would have been WRONG. What we share are the Speak ancestors.

So really, the DNA didn’t lie, but unless I dissected what the DNA match was really telling me carefully and methodically with NO PRECONCEIVED NOTIONS, I would have “confirmed” erroneous information. Or, at least I would have thought that I confirmed it.

I would actually have been doing something worse meaning convincing myself of “facts” that weren’t accurate, which means I would have then been spreading around those cancerous bad trees. Guaranteed, I do NOT want to be that person.

Foolers

I can tell you here and now that I have found several matches that were foolers because I share multiple ancestors with a person that I match, even if those multiple ancestors aren’t known to either or both of us. Every single DNA segment has its own unique history. I match one individual on two segments, one segment through my mom and one segment through my dad. Fortunately, we’ve identified both ancestors now, but imaging my initial surprise and confusion, especially given that my parents don’t share any common ancestors, communities or locations.

We have to evaluate all of the evidence to confirm that the conclusion being drawn in accurate.

DNA astray painting

One of the sanity checks I use, in addition to triangulation, is to paint my matches with known ancestors on my chromosomes using DNAPainter. Here’s the match to my cousin, and it overlaps with other people who share the same ancestor couple. Several matches are obscured behind the black box. If I discover someone that I supposedly match from a different ancestor couple sharing this segment of my father’s DNA, that’s a red neon flashing sign that something is wrong and I need to figure out what and why.

Ignoring this problem and hoping it will go away doesn’t work. I’ve tried😊

Three possible things can be wrong:

  1. The segment is identical by chance, not by descent. With a segment of 18 cM, that’s extremely unlikely. Triangulation with other people on this same segment on the same parent’s side should eliminate most false matches over 7cM. The larger the match, the more likely it is NOT identical by chance, meaning that it IS identical by descent or genealogically relevant.
  2. The segment is accurately matched but the genealogy is confused – such as my Rosenbalm example. This can happen with multiple ancestors, or descent from the same family but through an unknown connection. Looking for other connections to this family and sorting through matches’ trees often provides hints that resolve this situation. In my case, I might have noticed that I matched other people who descended from Nicholas Speak, which would not have been the case had I descended through the Rosenbalm family.
  3. The third scenarios is that the genealogy is plain flat out wrong. Yea, I know this one hurts. Get the saw ready.

The Devil in the Details

Always evaluate your matches in light of what you don’t know, not in order to confirm what you think you know. Play the devil’s advocate – all the time. After all, the devil really is in the details.

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Disclosure

I receive a small contribution when you click on the link to one of the 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.

Concepts – Paternal vs Patrilineal and Maternal vs Matrilineal

Sometimes a single word – and its interpretation – makes a world of difference.

For example, maternal versus matrilineal and paternal versus patrilineal.

What’s the difference and why does it matter?

In genetic genealogy, it’s very important.

Y and Mitochondrial DNA Lineage

When we explain the differences between Y, mitochondrial and autosomal DNA, we used to tell people that Y was your paternal line and mitochondrial (mtDNA) was your maternal line.

People became confused.

Y and mito

Here’s the pedigree chart generally used to explain the people in your tree represented by Y (blue boxes) and mtDNA (red circles) testing. Unlike autosomal, Y and mitochondrial only tests one line, but tests that one line VERY deeply, providing information not available through autosomal testing.

Y DNA tests only the Y DNA of the line shown with the blue boxes, NOT everyone on your paternal side.

Mitochondrial DNA tests only the line shown in red circles, NOT everyone on your maternal side.

That’s a good thing, not a bad thing, because this type of testing reveals information and matching opportunities not available through autosomal testing.

Maternal Versus Matrilineal, Paternal Versus Patrilineal

When we say maternal and paternal, the meaning can easily be confused.

Paternal and maternal

Anyone on the father’s entire side of the tree literally is paternal, and anyone on the mother’s side literally is maternal. The line is drawn straight down the middle, with half of your ancestors on each side.

Paternal and Maternal sides

What we really mean when we discuss Y and mtDNA testing is patrilineal and matrilineal. Those words mean the direct paternal line only, and the direct maternal line only, shown below.

patrilineal vs matrilineal

There doesn’t seem to be as much confusion with understanding that the Y chromosome follows the patrilineal line – probably because we’re used to this concept as the surname follows the same Y DNA path.

Matrilineal means the same thing on the maternal side, but there isn’t any key anchor concept, such as surname to go along with it. Therefore, when I’m discussing mitochondrial DNA testing, I say, “matrilineal, meaning your mother’s mother’s mother’s line, on up the tree until you run out of mothers.”

Why is this So Important?

Aside from the fact that expectations can easily be mis-set resulting in misinterpreted results, the concept of patrilineal and matrilineal are important because this confusion results in the confused person in advertently confusing others.

For example, when people want to take a mitochondrial DNA test to see if their Native American ancestor is on their mother’s side, what they are really testing is their matrilineal line, not everyone on their mother’s side of the tree.

Native American mitochondrial haplogroups are known to be subsets of haplogroups A, B, C, D and X. If the matrilineal line is Native, the mitochondrial results will fall into the proper Native subgroup. If not, they won’t.

However, a maternal Native American ancestor could well exist in any other ancestor or ancestors whose circles and squares aren’t colored at all – shown below by haplogroup B2a.

Native nonpatrilineal nonmatrilineal

Conversely, a male Native American ancestor could exist in any of those other lines as well, shown above by C-M217. The only way to discover that information is to DNA test someone who carries the Y or mitochondrial DNA of each of your ancestral lines.

At Family Tree DNA

At Family Tree DNA, the only vendor that does full Y and mitochondrial testing and matching, one of the information fields that testers are asked to provide is titled “Earliest Known Ancestors.”

FTDNA earliest known ancestor

Although this field says specifically how to determine the relevant ancestor they are asking about, many people either don’t read this, or don’t understand, or they enter the information before their results come back and never think to update this field when they discover that this isn’t their Native line after all.

On the Matches Map tab, where this information can also be entered, there is no explanation for which ancestor they are asking for. Often, I see males names have been entered in the direct maternal field, so the person interpreted this as their OLDEST person on their mother’s side – which of course is inaccurate – instead of their most distant matrilineal ancestor.

The problem is that if the tester enters a person who was born in Germany, and the matrilineal ancestor is a Native American female (or vice versa), this provides incorrect information to the system which then uses that compiled information to populate Haplogroup Origins, Ancestral Origins and the locations on the Family Tree DNA universal Y haplotree and mitochondrial public haplotree for other people. This is why you often see people in European haplogroups shown as “Native American.” Other testers’ information is part of what is provided on those pages. Collaboration is the underpinning foundation of genetic genealogy, but it also carries with it the opportunity for error.

Family Tree DNA provides a lot of information to customers, but some of it relies on information from other testers, so please test, and please be sure that your information is accurately reflected in these fields. Now might be a good time to check.

What About My Other Lines?

You can’t test for lines other than your patrilineal (males only) and your matrilineal (both genders) personally, BUT, other family members can – and you can surely gift them with tests. I look at it this way; they are testing for me, and if I could, I’d test for that line in a heartbeat – so I’m more than willing to provide a scholarship for their testing.

In the situation above, your mother’s father carries the mitochondrial DNA that you seek, shown as Native American B2a. If he’s not living, his siblings carry that same mitochondrial DNA. If he has sisters, their children, both male and female carry his mother’s mitochondrial DNA too. You need to follow the lineage through all females to a living relative who’s willing to test.

To obtain the DNA of the Native male, shown above as C-M217, you’d need to test your father’s mother’s father, or her brothers, or their sons. Follow this line up and down in the tree to find a male who carries that surname who is not adopted into the family.

I wrote about determining who to test in this article, along with a more detailed article about who to test for your father’s Y and mtDNA DNA, here.

DNA Haplogroup Pedigree Tree

I’ve been gathering my own ancestors’ Y and mtDNA information, because only Y and mtDNA provides a periscope view directly down a single line without admixture from the other parent.

DNA 8 grandparent

There’s just so much to learn! Where they originated, the history of their lineage, who you match and more. Y and mtDNA reaches back before surnames.

What can you learn about your family lines, and who can you ask to test?

What About You?

You can order the Y DNA for males and the mtFull test for either males or females at Family Tree DNA. When I ask a family member to test, I always offer to also purchase a Family Finder test at the same time so we can utilize their autosomal DNA as well, which is inherited from all of their lines. The cousin and I both get to know our ancestors better and advanced matching feature allows combined matching between all kinds of tests.

The Family Finder test can then be leveraged by uploading the autosomal DNA files to other free databases such as GedMatch and MyHeritage to obtain even more matches.

Your cousins and family members are goldmines containing the DNA nuggets of your ancestors just waiting to be found!

Ready for More?

If you have enjoyed this concepts article, you may enjoy other articles in our concepts series.

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Disclosure

I receive a small contribution when you click on the link to one of the 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.

Lydia Brown’s 3 Daughters: Or Were They? Mitochondrial and Autosomal DNA to the Rescue – 52 Ancestors #218

There has long been speculation about what happened to Lydia Brown, the wife of William Crumley III, and when.

It doesn’t help a bit that William Crumley, her husband, was actually William Crumley the third, being named for both his father and grandfather.

William Crumley the second was born in 1767 or 1768 in Frederick County, Virginia. He married, but his wife’s name is unknown. We do, however, know that her mitochondrial DNA haplogroup is H2a1. Without any other moniker, H2a1 has in effect become her name, because I have nothing else to call her that identifies her individually.

We don’t know much about H2a1, only that she was having children by about 1786 and had her last child, Catherine Crumley was born in 1805, suggesting that H2a1 herself was born about 1766.

It was Catherine Crumley’s descendant who took the mitochondrial DNA test that provided us with H2a1. Ironic that we have her mitochondrial DNA and know her haplogroup, but not her name. Of course, we are presuming that indeed, she was William II’s only wife, meaning that her haplogroup applied to her eldest child, Susannah Crumley born about 1786 and the other 8 children born between Susannah and Catherine.

H2a1’s son, William Crumley III was born between 1785 and 1789. William would have inherited his mother’s mitochondrial DNA, H2a1, but he would not have passed it on to his children. Mitochondrial DNA is only passed on by females. William’s children would have inherited their mitochondrial DNA from his wife, their mother.

William III married Lydia Brown on October 1, 1807 in Greene County, Tennessee, where the family had moved by 1793. Lydia was the daughter of Jotham Brown and his wife Phoebe, whose surname is unknown, neighbors who lived close by.

As couples do, William III and Lydia set about starting a family right away, having their first child, the Reverend John Crumley in 1808 or 1809. John was followed by William Crumley the fourth in 1811 and Jotham Crumley in 1813. Sarah may have been a twin to Jotham, born in 1813 or she may have been born in 1815. Of course, there were no birth or death certificates back then.

In 1817, daughter Clarissa was born on April 10th.

That’s where the confusion starts.

Enter Elizabeth Johnson

Enter Elizabeth, known as Betsey, Johnson who married William Crumley in Greene County, TN on October 20, 1817.

Which William Crumley, you ask? Well, so have we, for years. In fact, it’s discussed at length, here.

Given Elizabeth’s age of approximately 17 years when she married (assuming she is who we think she is,) and the fact she was remembered as the cousin of Lydia Brown, we presumed that she married William Crumley III. William III at approximately age 35-40 was closer to her age than William II at approximate age 55 – and Lydia Brown was the wife of William III so it stood to reason that they family would know her cousins.

Seems logical, right?

Except, the next child born to William III and his wife, Lydia or Elizabeth, my ancestor, Phoebe Crumley was born on March 24th, 1818, not even 50 weeks after her sister, Clarissa had been born. Furthermore, Phoebe had been born in Claiborne County, Tennessee, near the border with Lee County, Virginia, not in Greene County where earlier children were born. Also of note, Lydia’s mother, Jotham Brown’s wife was named Phoebe.

It’s certainly possible that William Crumley III’s first wife, Lydia Brown had died and he had remarried quickly to Elizabeth Johnson, then moved to Claiborne County. Except, the dates don’t work well.

We know that Lydia Brown Crumley was alive on April 10, 1817 when Clarissa was born.

Phoebe’s mother, whoever she was, got pregnant in June of 1817, 4 months before Elizabeth Johnson married William Crumley.

Pregnancy as a motivator for marriage happens, but it seemed odd that a 34 year old man with a 2 month old child, whose wife had just died was impregnating a 17 year old girl.

I discussed all the pros and cons of the situation in the articles about Lydia Brown and Phoebe Crumley, but the only other alternative is that Elizabeth Johnson had married the elder William Crumley II. It seems even odder that a man of 50+ would be marrying a girl of 17. But that too happened. Or, maybe Elizabeth was actually older than we thought.

Furthermore, William Crumley II had no additional children after 1817, at least none that we know of, but William III did. Yes, it looked quite probable that Elizabeth Johnson married William Crumley III. Young wives tended to have children, regardless of the age of their husband – so the preponderance of circumstantial evidence pointed to Elizabeth marrying William Crumley III, or Jr. as he was called in Greene County. William Crumley II was referred to as William Sr.

This seemed like the most reasonable (at least tentative) conclusion, based on the evidence at hand.

The problem is that it was wrong.

DNA Upsets the Apple Cart

One of my cousins who descends from Clarissa (born in April 1817) through all females kindly tested her mitochondrial DNA years ago. My line, through Phoebe, the younger sister of Clarissa had tested too, and they matched exactly at the full sequence level. Furthermore, both of those women also matched a descendant of a daughter of Jotham Brown, confirming that those three women had a common ancestor.

This tells us that very likely Clarissa and Phoebe are full siblings. However, dates weren’t always recorded correctly and people simply forgot. Were those two girls’ births recorded in the correct order with the correct years?

I really wanted to test a descendant of the daughter, Melinda, born April 1, 1820. That child was unquestionably born after the 1817 marriage to the second wife, if she was a second wife.

Not long ago, as a result of the article about Lydia, a descendant of Melinda came forth and volunteered to test.

Believe me, those weeks spent waiting for DNA results seemed like an eternity.

Finally, the results were ready, and sure enough, Melinda’s descendant matches Clarissa’s descendant and Phoebe’s descendant at the full sequence level, exactly.

The proof doesn’t get any better than this.

Except…

One Final Hitch

I’d feel a lot better if there wasn’t one last rumor to contend with. The rumor that Elizabeth Johnson was Lydia Brown’s cousin.

Elizabeth Johnson had to be either the daughter of Zopher Johnson, or the daughter of Moses Johnson, both of Greene County, TN. Moses was either the brother or the son of Zopher Johnson. Those are the only candidate fathers for Elizabeth.

Let’s look at the various possible relationships.

Possibility #1 – Jotham Brown’s wife, Phoebe, is Zopher Johnson’s Daughter as is Elizabeth Johnson

I already discussed the possibility that Jotham Brown’s wife, Phoebe, was Zopher Johnson’s daughter, here.

In the scenario above, Elizabeth and Lydia would not have been cousins, but aunt/niece. Their mitochondrial DNA would have matched, but in the article about Jotham Brown’s wife, Phoebe, we dismissed the possibility that she was Zopher Johnson’s daughter, so Possibility #1 isn’t possible after all.

Possibility #2 – Jotham Brown’s Wife, Phoebe, is the Daughter of Zopher Johnson and Elizabeth is Zopher’s Granddaughter Through Son Moses

In the above scenario, if Moses was the son of Zopher, these women would be first cousins, but the mitochondrial DNA lineage would be broken at Moses, so their mitochondrial DNA wouldn’t match.

Additionally, we dismissed the possibility that Phoebe is Zopher’s daughter, so Possibility #2 is not, for 2 different reasons. It’s possible that we’re wrong about Phoebe being Zopher’s daughter, but it’s NOT possible that we’re wrong about the mitochondrial DNA not matching in this scenario.

Furthermore Moses is believed to be the brother of Zopher, not his son.

Possibility #3 – Phoebe is Zopher’s Daughter, Moses is Zopher’s Brother and Elizabeth is Moses’s Daughter

The possibilities really aren’t endless, they just seem that way! 😊

In this third scenario where Moses and Zopher are brothers, not father and son, Elizabeth and Lydia would be 1st cousins once removed, but they would not share mitochondrial DNA unless Zopher and Moses had married sisters or women who also shared the same exact mitochondrial DNA.

The only scenario in which the mitochondrial DNA would be shared with cousins, assuming that Elizabeth Johnson and Lydia Brown were indeed cousins, is Possibility 1 where Jotham’s wife is Zopher’s daughter.

The evidence suggests that Phoebe Brown is not the daughter of Zopher Johnson, eliminating Possibility 3 as well.

Possibility #4 – Zopher Johnson’s Wife and Jotham Brown’s Wife Were Sisters

I’m going to presume here that the individual who recorded that Elizabeth Johnson and Lydia Brown were cousins meant first cousins, although it’s possible that cousin means further back and possibly not in the direct matrilineal line.

For Elizabeth Johnson’s mitochondrial DNA to match that of Lydia Brown’s exactly, they must both descend from the same common female ancestor in the direct matrilineal line.

How might that work, assuming Jotham’s wife is not Zopher’s daughter?

If the child of both Elizabeth Johnson and Lydia Brown had matching mitochondrial DNA, then the cousin lineage had to be through their mother’s matrilineal side.

This means that the wives of Zopher Johnson and Jotham Brown would have been sisters, or possible matrilineal cousins with no interweaving male generations.

Zopher Johnson and Jotham Brown were both found in Frederick Co., VA by 1782 where the tax list tells us that Zopher had 2 people in his household, indicating that he had not been married long.

Jotham Brown and Phebe, his wife are having children by 1761 in Virginia according to the 1850 census record of their oldest child.

These couples are probably at least 20 years different in age.

Unfortunately, we know very little about where Jotham originated. We know that Zopher’s parents were living in Northampton Co., PA in 1761 about the time he was born.

In order for Jotham’s wife, Phoebe to be the sibling of Zopher Johnson’s wife, they would have had to be living in the same location in roughly 1780, which was probably Frederick Co., VA.

Is it possible that the reason that Clarissa, Phoebe and Melinda’s mitochondrial DNA matches is because they actually do have two separate mothers who were cousins? Yes, it is.

Is there any evidence of that? No, not today.

However, this is the only alternate possibility that works at all.

Of course, the most reasonable scenario is that Lydia Brown didn’t die, and Clarissa, Phoebe and Melinda are all 3 her daughters. This evidence is strengthened of course by the fact that Phoebe is named after Lydia Brown’s mother.

What Other Tools are Available?

Unfortunately, Jotham Brown is 6 generations back from me. If Phoebe’s mother was Elizabeth Johnson instead of Lydia Brown, Zopher Johnson would be the same number of generations back in my tree as Jotham Brown.

The absence of Johnson autosomal matches in and of itself at that distance wouldn’t be remarkable for any particular individual, but with as many people from this line who have tested, it’s increasingly unlikely that I would match no one from the Johnson line.

At Ancestry, I added Zopher Johnson in my tree, as Jotham Brown’s wife, Phoebe’s father, creating a “honey-pot” of sorts for matches. I have no one that shares Zopher except for people who also have Phoebe listed as Phoebe Johnson. In other words, no one who descends from Zopher through any other line.

I have 27 people who I match through Jotham Brown through his other children, which I wouldn’t have as matches unless Jotham Brown was my ancestor as well.

At MyHeritage, I also added Zopher Johnson, but I have not had SmartMatches there either. Like at Ancestry, I do have Jotham Brown matches.

Several people match at Ancestry who has no chromosome browser. I have a Jotham Brown Circle at Ancestry with 45 members, of which I match 16.

Not all my matches are from Ancestry. Other matches are found at Family Tree DNA, MyHeritage and GedMatch which allow me to paint their segments on my DNAPainter profile, triangulating with others.

Conclusion

We have multiple pieces of evidence including three matching mitochondrial DNA tests for the sisters, children of William Crumley III, on the following timeline:

Crumley birth timeline

  • We’ve proven that Clarissa, Phebe and Melinda all share the exact same mitochondrial DNA. These births occurred both before and after the marriage of Elizabeth Johnson to one of the William Crumleys in 1817.
  • I have more than 30 matches to several of Jotham Brown’s descendants through multiple children other than through Lydia Brown, the wife of William Crumley III.
  • I don’t have any matches to Zopher Johnson through anyone except people who list Jotham Brown’s wife, Phebe, as the daughter of Zopher Johnson in their trees.
  • Jotham Brown’s wife’s name was Phebe, a rather unusual name, certainly suggesting that Lydia Brown was the mother of Phebe Crumley born in 1818.

I believe the combination of these factors confirms beyond any reasonable doubt that the mother of Phoebe Crumley born in 1818, as well as the younger children born to William Crumley III and his wife were all born to Lydia Brown, the first and only known wife of William Crumley III.

I believe that Elizabeth Johnson married William Crumley II, not William Crumley III based on this as well as new research evidence to be discussed in a future article.

Based on the cumulative evidence, Elizabeth Johnson did not marry William Crumley III and Lydia Brown, William Crumley III’s first wife did not die before the birth of either Phebe or Melinda Crumley.

Based on the fact that I have no autosomal DNA matches to Zopher Johnson’s descendants, I believe we’ve removed the possibility that Jotham Brown’s wife, Phebe is the daughter of Zopher, or the child of Zopher’s brother, Moses. In other words, there is no hint of a biological connection between the Johnson and Brown families upstream of Jotham Brown and his wife, Phoebe whose surname remains unknown.

As far as I’m concerned, we can put this question to bed, forever.

Acknowledgements

Thank you to the descendants of Clarissa, Phoebe and Melinda Crumley for mitochondrial DNA testing. We could never have solved this without you.

Thank you for descendants of Jotham Brown and Zopher Johnson for autosomal DNA testing.

Thank you to Stevie Hughes for her extensive research on the Zopher Johnson line.

If You Want to Test

If you want to test your mitochondrial DNA, click here and order the mtFull test.

If you want to test your autosomal DNA, click here and order the Family Finder test, or click here and order the MyHeritage test.

You can also order a Family Finder test and then transfer free to MyHeritage.

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate.  If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase.  Clicking through the link does not affect the price you pay.  This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc.  In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received.  In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product.  I only recommend products that I use myself and bring value to the genetic genealogy community.  If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

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Whole Genome Sequencing – Is It Ready for Prime Time?

Dante Labs is offering a whole genomes test for $199 this week as an early Black Friday special.

Please note that just as I was getting ready to push the publish button on this article, Veritas Genetics also jumped on the whole sequencing bandwagon for $199 for the first 1000 testers Nov. 19 and 20th. In this article, I discuss the Dante Labs test. I have NOT reviewed Veritas, their test nor terms, so the same cautions discussed below apply to them and any other company offering whole genome sequencing. The Veritas link is here.

Update – Veritas provides the VCF file for an additional $99, but does not provide FASTQ or BAM files, per their Tweet to me.

I have no affiliation with either company.

$199 (US) is actually a great price for a whole genome test, but before you click and purchase, there are some things you need to know about whole genome sequencing (WGS) and what it can and can’t do for you. Or maybe better stated, what you’ll have to do with your own results before you can utilize the information for genealogical purposes.

The four questions you need to ask yourself are:

  • Why do you want to consider whole genome testing?
  • What question(s) are you trying to answer?
  • What information do you seek?
  • What is your testing goal?

I’m going to say this once now, and I’ll say it again at the end of the article.

Whole genome sequencing tests are NOT A REPLACEMENT FOR GENEALOGICAL DNA TESTS for mitochondrial, Y or autosomal testing. Whole genome sequencing is not a genealogy magic bullet.

There are both pros and cons of this type of purchase, as with most everything. Whole genome tests are for the most experienced and technically savvy genetic genealogists who understand both working with genetics and this field well, who have already taken the vendors’ genealogy tests and are already in the Y, mitochondrial and autosomal comparison data bases.

If that’s you or you’re interested in medical information, you might want to consider a whole genome test.

Let’s start with some basics.

What Is Whole Genome Sequencing?

Whole Genome Sequencing will sequence most of your genome. Keep in mind that humans are more than 99% identical, so the only portions that you’ll care about either medically or genealogically are the portions that differ or tend to mutate. Comparing regions where you match everyone else tells you exactly nothing at all.

Exome Sequencing – A Subset of Whole Genome

Exome sequencing, a subset of whole genome sequencing is utilized for medical testing. The Exome is the region identified as the portions most likely to mutate and that hold medically relevant information. You can read about the benefits and challenges of exome testing here.

I have had my Exome sequenced twice, once at Helix and once at Genos, now owned by NantOmics. Currently, NantOmics does not have a customer sign-in and has acquired my DNA sequence as part of the absorption of Genos. I’ll be writing about that separately. There is always some level of consumer risk in dealing with a startup.

I wrote about Helix here. Helix sequences your Exome (plus) so that you can order a variety of DNA based or personally themed products from their marketplace, although I’m not convinced about the utility of even the legitimacy of some of the available tests, such as the “Wine Explorer.”

On the other hand, the world-class The National Geographic Society’s Genographic Project now utilizes Helix for their testing, as does Spencer Well’s company, Insitome.

You can also pay to download your Exome sequence data separately for $499.

Autosomal Testing for Genealogy

Both whole genome and Exome testing are autosomal testing, meaning that they test chromosomes 1-22 (as opposed to Y and mitochondrial DNA) but the number of autosomal locations varies vastly between the various types of tests.

The locations selected by the genealogy testing companies are a subset of both the whole genome and the Exome. The different vendors that compare your DNA for genealogy generally utilize between 600,000 and 900,000 chip-specific locations that they have selected as being inclined to mutate – meaning that we can obtain genealogically relevant information from those mutations.

Some vendors (for example, 23andMe and Ancestry) also include some medical SNPs (single nucleotide polymorphisms) on their chips, as both have formed medical research alliances with various companies.

Whole genome and Exome sequencing includes these same locations, BUT, the whole genome providers don’t compare the files to other testers nor reduce the files to the locations useful for genealogical comparisons. In other words, they don’t create upload files for you.

The following chart is not to scale, but is meant to convey the concept that the Exome is a subset of the whole genome, and the autosomal vendors’ selected SNPs, although not the same between the companies, are all subsets of the Exome and full genome.

I have not had my whole genome sequenced because I have seen no purpose for doing so, outside of curiosity.

This is NOT to imply that you shouldn’t. However, here are some things to think about.

Whole Genome Sequencing Questions

Coverage – Medical grade coverage is considered to be 30X, meaning an average of 30 scans of every targeted location in your genome. Some will have more and some will have less. This means that your DNA is scanned thirty different times to minimize errors. If a read error happens once or twice, it’s unlikely that the same error will happen several more times. You can read about coverage here and here.

Genomics Education Programme [CC BY 2.0 (https://creativecommons.org/licenses/by/2.

Here’s an example where the read length of Read 1 is 18, and the depth of the location shown in light blue is 4, meaning 4 actual reads were obtained. If the goal was 30X, then this result would be very poor. If the goal was 4X then this location is a high quality result for a 4X read.

In the above example, if the reference value, meaning the value at the light blue location for most people is T, then 4 instances of a T means you don’t have a mutation. On the other hand, if T is not the reference value, then 4 instances of T means that a mutation has occurred in that location.

Dante Labs coverage information is provided from their webpage as follows:

Other vendors coverage values will differ, but you should always know what you are purchasing.

Ownership – Who owns your data? What happens to your DNA itself (the sample) and results (the files) under normal circumstances and if the company is sold. Typically, the assets of the company, meaning your information, are included during any acquisition.

Does the company “share, lease or sell” your information as an additional revenue stream with other entities? If so, do they ask your permission each and every time? Do they perform internal medical research and then sell the results? What, if anything, is your DNA going to be used for other than the purpose for which you purchased the test? What control do you exercise over that usage?

Read the terms and conditions carefully for every vendor before purchasing.

File Delivery – Three types of files are generated during a whole genome test.

The VCF (Variant Call Format) which details your locations that are different from the reference file. A reference file is the “normal” value for humans.

A FASTQ file which includes the nucleotide sequence along with a corresponding quality score. Mutations in a messy area or that are not consistent may not be “real” and are considered false positives.

The BAM (Binary Alignment Map) file is used for Y DNA SNP alignment. The output from a BAM file is displayed in Family Tree DNA’s Big Y browser for their customers. Are these files delivered to you? If so, how? Family Tree DNA delivers their Big Y DNA BAM files as free downloads.

Typically whole genome data is too large for a download, so it is sent on a disc drive to you. Dante provides this disc for BAM and FASTQ files for 59 Euro ($69 US) plus shipping. VCF files are available free, but if you’re going to order this product, it would be a shame not to receive everything available.

Version – Discoveries are still being made to the human genome. If you thought we’re all done with that, we’re not. As new regions are mapped successfully, the addresses for the rest change, and a new genomic map is created. Think of this as street addresses and a new cluster of houses is now inserted between existing houses. All of the houses are periodically renumbered.

Today, typically results are delivered in either of two versions: hg19(GRVH37) or hg38(GRCH38). What happens when the next hg (human genome) version is released?

When you test with a vendor who uses your data for comparison as a part of a product they offer, they must realign your data so that the comparison will work for all of their customers (think Family Tree DNA and GedMatch, for example), but a vendor who only offers the testing service has no motivation to realign your output file for you. You only pay for sequencing, not for any after-the-fact services.

Platform – Multiple sequencing platforms are available, and not all platforms are entirely compatible with other competing platforms. For example, the Illumina platform and chips may or may not be compatible with the Affymetrix platform (now Thermo Fisher) and chips. Ask about chip compatibility if you have a specific usage in mind before you purchase.

Location – Where is your DNA actually being sequenced? Are you comfortable having your DNA sent to that geographic location for processing? I’m personally fine with anyplace in either the US, Canada or most of Europe, but other locations maybe not so much. I’d have to evaluate the privacy policies, applicable laws, non-citizen recourse and track record of those countries.

Last but perhaps most important, what do you want to DO with this file/information?

Utilization

What you receive from whole genome sequencing is files. What are you going to do with those files? How can you use them? What is your purpose or goal? How technically skilled are you, and how well do you understand what needs to be done to utilize those files?

A Specific Medical Question

If you have a particular question about a specific medical location, Dante allows you to ask the question as soon as you purchase, but you must know what question to ask as they note below.

You can click on their link to view their report on genetic diseases, but keep in mind, this is the disease you specifically ask about. You will very likely NOT be able to interpret this report without a genetic counselor or physician specializing in this field.

Take a look at both sample reports, here.

Health and Wellness in General

The Dante Labs Health and Wellness Report appears to be a collaborative effort with Sequencing.com and also appears to be included in the purchase price.

I uploaded both my Exome and my autosomal DNA results from the various testing companies (23andMe V3 and V4, Ancestry V1 and V2, Family Tree DNA, LivingDNA, DNA.Land) to Promethease for evaluation and there was very little difference between the health-related information returned based on my Exome data and the autosomal testing vendors. The difference is, of course, that the Exome coverage is much deeper (and therefore more reliable) because that test is a medical test, not a consumer genealogy test and more locations are covered. Whole genome testing would be more complete.

I wrote about Promethease here and here. Promethease does accept VCF files from various vendors who provide whole genome testing.

None of these tests are designed or meant for medical interpretation by non-professionals.

Medical Testing

If you plan to test with the idea that should your physician need a genetics test, you’re already ahead of the curve, don’t be so sure. It’s likely that your physician will want a genetics test using the latest technology, from their own lab, where they understand the quality measures in place as well as how the data is presented to them. They are unlikely to accept a test from any other source. I know, because I’ve already had this experience.

Genealogical Comparisons

The power of DNA testing for genealogy is comparing your data to others. Testing in isolation is not useful.

Mitochondrial DNA – I can’t tell for sure based on the sample reports, but it appears that you receive your full sequence haplogroup and probably your mutations as well from Dante. They don’t say which version of mitochondrial DNA they utilize.

However, without the ability to compare to other testers in a database, what genealogical benefit can you derive from this information?

Furthermore, mitochondrial DNA also has “versions,” and converting from an older to a newer version is anything but trivial. Haplogroups are renamed and branches sawed from one part of the mitochondrial haplotree and grafted onto another. A testing (only) vendor that does not provide comparisons has absolutely no reason to update your results and can’t be expected to do so. V17 is the current build, released in February 2016, with the earlier version history here.

Family Tree DNA is the only vendor who tests your full sequence mitochondrial DNA, compares it to other testers and updates your results when a new version is released. You can read more about this process, here and how to work with mtDNA results here.

Y DNA – Dante Labs provides BAM files, but other whole genome sequencers may not. Check before you purchase if you are interested in Y DNA. Again, you’ll need to be able to analyze the results and submit them for comparison. If you are not capable of doing that, you’ll need to pay a third party like either YFull or FGS (Full Genome Sequencing) or take the Big Y test at Family Tree DNA who has the largest Y Database worldwide and compares results.

Typically whole genome testers are looking for Y DNA SNPs, not STR values in BAM files. STR (short tandem repeat) values are the results that you receive when you purchase the 37, 67 or 111 tests at Family Tree DNA, as compared to the Big Y test which provides you with SNPs in order to resolve your haplogroup at the most granular level possible. You can read about the difference between SNPs and STRs here.

As with SNP data, you’ll need outside assistance to extract your STR information from the whole genome sequence information, none of which will be able to be compared with the testers in the Family Tree DNA data base. There is also an issue of copy-count standardization between vendors.

You can read about how to work with STR results and matches here and Big Y results here.

Autosomal DNA – None of the major providers that accept transfers (MyHeritage, Family Tree DNA, GedMatch) accept whole genome files. You would need to find a methodology of reducing the files from the whole genome to the autosomal SNPs accepted by the various vendors. If the vendors adopt the digital signature technology recently proposed in this paper by Yaniv Erlich et al to prevent “spoofed files,” modified files won’t be accepted by vendors.

Summary

Whole genome testing, in general, will and won’t provide you with the following:

Desired Feature Whole Genome Testing
Mitochondrial DNA Presumed full haplogroup and mutations provided, but no ability for comparison to other testers. Upload to Family Tree DNA, the only vendor doing comparisons not available.
Y DNA Presume Y chromosome mostly covered, but limited ability for comparison to other testers for either SNPs or STRs. Must utilize either YFull or FGS for SNP/STR analysis. Upload to Family Tree DNA, the vendor with the largest data base not available when testing elsewhere.
Autosomal DNA for genealogy Presume all SNPs covered, but file output needs to be reduced to SNPs offered/processed by vendors accepting transfers (Family Tree DNA, MyHeritage, GedMatch) and converted to their file formats. Modified files may not be accepted in the future.
Medical (consumer interest) Accuracy is a factor of targeted coverage rate and depth of actual reads. Whole genome vendors may or may not provide any analysis or reports. Dante does but for limited number of conditions. Promethease accepts VCF files from vendors and provides more.
Medical (physician accepted) Physician is likely to order a medical genetics test through their own institution. Physicians may not be willing to risk a misdiagnosis due to a factor outside of their control such as an incompatible human genome version.
Files VCF, FASTQ and BAM may or may not be included with results, and may or may not be free.
Coverage Coverage and depth may or may not be adequate. Multiple extractions (from multiple samples) may or may not be included with the initial purchase (if needed) or may be limited. Ask.
Updates Vendors who offer sequencing as a part of a products that include comparison to other testers will update your results version to the current reference version, such as hg38 and mitochondrial V17. Others do not, nor can they be expected to provide that service.
Version Inquire as to the human genome (hg) version or versions available to you, and which version(s) are acceptable to the third party vendors you wish to utilize. When the next version of the human genome is released, your file will no longer be compatible because WGS vendors are offering sequencing only, not results comparisons to databases for genealogy.
Ownership/Usage Who owns your sample? What will it be utilized for, other than the service you ordered, by whom and for what purposes? Will you we able to authorize or decline each usage?
Location Where geographically is your DNA actually being sequenced and stored? What happens to your actual DNA sample itself and the resulting files? This may not be the location where you return your swab kit.

The Question – Will I Order?

The bottom line is that if you are a genealogist, seeking genetic information for genealogical purposes, you’re much better off to test with the standard and well know genealogy vendors who offer compatibility and comparisons to other testers.

If you are a pioneer in this field, have the technical ability required to make use of a whole genome test and are willing to push the envelope, then perhaps whole genome sequencing is for you.

I am considering ordering the Dante Labs whole genome test out of simple curiosity and to upload to Promethease to determine if the whole genome test provides me with something potentially medically relevant (positive or negative) that autosomal and Exome testing did not.

I’m truly undecided. Somehow, I’m having trouble parting with the $199 plus $69 (hard drive delivery by request when ordering) plus shipping for this limited functionality. If I was a novice genetic genealogist or was not a technology expert, I would definitely NOT order this test for the reasons mentioned above.

A whole genome test is not in any way a genealogical replacement for a full sequence mitochondrial test, a Y STR test, a Y SNP test or an autosomal test along with respective comparison(s) in the data bases of vendors who don’t allow uploads for these various functions.

The simple fact that 30X whole genome testing is available for $199 plus $69 plus shipping is amazing, given that 15 years ago that same test cost 2.7 billion dollars. However, it’s still not the magic bullet for genealogy – at least, not yet.

Today, the necessary integration simply doesn’t exist. You pay the genealogy vendors not just for the basic sequencing, but for the additional matching and maintenance of their data bases, not to mention the upgrading of your sequence as needed over time.

If I had to choose between spending the money for the WGS test or taking the genealogy tests, hands down, I’d take the genealogy tests because of the comparisons available. Comparison and collaboration is absolutely crucial for genealogy. A raw data file buys me nothing genealogically.

If I had not previously taken an Exome test, I would order this test in order to obtain the free Dante Health and Wellness Report which provides limited reporting and to upload my raw data file to Promethease. The price is certainly right.

However, keep in mind that once you view health information, you cannot un-see it, so be sure you do really want to know.

What do you plan to do? Are you going to order a whole genome test?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Jacob Lentz’s Signatures: Cursive and Genetic – 52 Ancestors #216

What is a signature anyway?

A signature is defined as a mark or something that personally identifies an individual. A form of undeniable self-identification.

Of course, that’s exactly why I seek my ancestors’ signatures, both their handwriting and their genetic signature.

Jacob Lentz was born in Germany in 1783 and died in 1870 in Ohio.

Most documents of that timeframe contained only facsimiles of actual signatures. Original deeds indicate that the document was signed, but when recorded in deed books at the courthouse, the clerk only transcribed the signature. The person recorded the physical deed that they had in their hand, and then took it home with them. Therefore, the deed book doesn’t hold the original signature – the original deed does. I was crestfallen years ago when I discovered that fact. ☹

Hence, the actual physical signature of an ancestor is rare indeed.

Recently, I’ve been lucky enough to find not one, but two actual signatures of Jacob Lentz – plus part of his genetic signature as well.

Jacob’s Handwritten Signatures

When Jacob Lenz, later Lentz in the US, petitioned to leave Germany in 1817, he signed the petition document.

The original document is in the “Weinstadt City Archive”, which kindly gave permission for the reproduction and was graciously retrieved by my distant cousin, Niclas Witt. Thank you very much to both!

Here’s Jacob’s actual signature.

The story of Jacob’s life and immigration, and what a story it is, is recorded here, here, here and here.

Jacob’s life has a missing decade or so, after he completed his indentured servitude about 1820 or 1821 in Pennsylvania and before he arrived in Montgomery County, Ohio about 1830. In Ohio, he purchased land and began creating records. That’s where I found him initially.

Jacob’s youngest child, Mary Lentz, was born in May or June of 1829, before leaving Pennsylvania. She married in Montgomery County, Ohio on December 19, 1848 to Henry Overlease. That marriage document contains the signature of her father, Jacob Lentz.

This signature is slightly different than the German one from 31 years earlier, but it’s still clearly our Jacob, as the document states that the parents have signed. It looks like he’s also incorporated the “t” into the name now as well.

Jacob Lentz’s Genetic Signatures

As I was celebrating the discovery of not one, but two versions of Jacob’s written signature, I realized that I carry part of Jacob’s genetic signature too, as do others of his descendants. I just never thought of it quite like that before.

His genetic signature is every bit as personal, and even better because it’s in me, not lost to time.

There are three types of DNA that can provide genetic signatures of our ancestors; mitochondrial, Y DNA and autosomal.

Mitochondrial DNA

Mitochondrial DNA is passed from mothers to all genders of their children, but only their daughters pass it on. Therefore, it’s primarily unchanged, generation to generation.

Being a male, Jacob couldn’t pass his mitochondrial DNA on to his descendants, so we have to discover Jacob’s mitochondrial DNA by testing someone else who descends from his mother’s direct matrilineal line through all females but can be a male in the current generation.

Unfortunately, we haven’t been able to discover Jacob’s mitochondrial DNA that he inherited from his matrilineal line, meaning his mother’s mother’s mother’s line.

However, we only identified his parents a few months ago. Most of Jacob’s family didn’t immigrate, so perhaps eventually the right person will test who descends from his mother, or her matrilineal line, through all women to the current generation.

Jacob’s matrilineal line is as follows, beginning with his mother:

  • Jacob’s mother – Maria Margaretha Gribler born May 4, 1749 and died July 5, 1823 in Beutelsbach, married Jakob Lenz November 3, 1772.
  • Her mother, Katharina Nopp born April 23, 1707 and died November 27, 1764 in Beutelsbach, married Johann Georg Gribler on October 26, 1745.
  • Agnes Back/Beck born November 26, 1673 in Aichelberg, Germany, died February 10, 1752 in Beutelsbach and married Johann Georg Nopp from Beutelsbach.
  • Margaretha, surname unknown, from Magstadt who married Dionysus Beck who lived in Aichelberg, Germany.

If you descend from any of these women, or their female siblings through all females to the current generation, I have a DNA testing scholarship for mitochondrial DNA at Family Tree DNA for you! I’ll throw an autosomal Family Finder test in too!

If you’d like a read a quick article about how mitochondrial, Y DNA and autosomal DNA work and are inherited, click here.

Y-DNA

On the other hand, Jacob did contribute his Y DNA to his sons. Lentz male descendants, presuming no adoptions, carry Jacob’s Y DNA signature as their own.

We are very fortunate to have Jacob Lentz’s Y DNA signature, thanks to two male Lentz cousins. I wrote about how unique the Lentz Y DNA is, and that we’ve determined that our Lentz line descends from the Yamnaya culture in Russia some 3500 years ago. How did we do that? We match one of the ancient burials. Jacob’s haplogroup is R-BY39280 which is a shorthand way of telling us about his clan.

On the Big Y Tree, at Family Tree DNA, we can see that on our BY39280 branch, we have people whose distant ancestors were found in two locations, France and Germany. On the next upstream branch, KMS67, the parent of BY39280, we find people with that haplogroup in Switzerland and Greece.

Our ancestors are amazingly interesting.

Autosomal DNA

Jacob shares his Y and mitochondrial DNA, probably exactly, with other relatives, since both Y and mitochondrial DNA is passed intact from generation to generation, except for an occasional mutation.

However, Jacob’s autosomal DNA was the result of a precise combination of half of his mother’s and half of his father’s autosomal DNA. No one on this earth had the exact combination of DNA as Jacob. Therefore, Jacob’s autosomal DNA identifies him uniquely.

Unfortunately, Jacob isn’t alive to test, and no, I’m not digging him up – so we are left to piece together Jacob’s genetic signature from the pieces distributed among his descendants.

I realized that by utilizing DNAPainter, which allows me to track my own segments by ancestor, I have reconstructed a small portion of Jacob’s autosomal DNA.

Now, there’s a hitch, of course.

Given that there are no testers that descend from the ancestors of either Jacob or his wife, Fredericka Ruhle, at least not that I know of, I can’t sort out which of these segments are actually Jacob’s and which are Fredericka’s.

In the chart above, the tester and my mother match each other on the same segments, but without testers who descend from the parents of Jacob and Fredericka, through other children and also match on that same segment, we can’t tell which of those common segments came from Jacob and which from Fredericka. If my mother and the tester matched a tester from Jacob’s siblings, then we would know that their common segment descended through Jacob’s line, for example.

Painting Jacob’s Genetic Signature

The segments in pink below show DNA that I inherited from either Jacob or Fredericka. I match 8 other cousins who descend from Jacob Lentz and Fredericka Ruhle on some portion of my DNA – and in many cases, three or more descendants of Jacob/Fredericka match on the same exact segment, meaning they are triangulated.

As you can see, I inherited a significant portion of my maternal chromosome 3 from Jacob or Fredericka, as did my cousins. I also inherited portions of chromosomes 7, 9, 18 and 22 from Jacob or Fredericka as well. While I was initially surprised to see such a big piece of chromosome three descending from Jacob/Fredericka, Jacob Lentz and Fredericka Ruhle aren’t really that distantly removed – being my great-great-great-grandparents, or 5 generations back in time.

Based on the DNAPainter calculations, these segments represent about 2.4% of my DNA segments on my maternal side. The expected amount, if the DNA actually was passed in exactly half (which seldom happens,) would be approximately 3.125% for each Jacob and Fredericka, or 6.25% combined. That means I probably carry more of Jacob/Fredericka’s DNA that can eventually be identified by new cousin matches!

Of course, my cousins may well share segments of Jacob’s DNA with each other that I don’t, so those segments won’t be shown on my DNAPainter graph.

However, if we were to create a DNAPainter chart for Jacob/Fredericka themseves, and their descendants were to map their shared segments to that chart, we could eventually recreate a significant amount of Jacob’s genetic signature through the combined efforts of his descendants – like reassembling a big puzzle where we all possess different pieces of the puzzle.

Portions of Jacob’s genetic signature are in each of his descendants, at least for several generations! Reassembling Jacob would be he ultimate scavenger hunt.

What fun!

Resources

You can order Y and mitochondrial DNA tests from Family Tree DNA here, the only company offering these tests.

You can order autosomal tests from either Family Tree DNA or MyHeritage by clicking on those names in this sentence. You’ll need segment information that isn’t available at Ancestry, so I recommend testing with one of these two companies.

23andMe and Gedmatch also provide segment information. Some people who test at both 23andMe and Ancestry upload to GedMatch, so be sure to check there as well.

You can transfer your autosomal DNA files from one company to the other, with instructions for Family Tree DNA here and MyHeritage here, including how to transfer from Ancestry here.

You can learn how to use DNA Painter here, here and here.

Whose genetic signatures can you identify?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Ethnicity – Far More than Percentages!

Since ethnicity results have been in the news recently, I thought this might be a good time to talk about how to squeeze more out of your ethnicity results than just percentages.

You do know there’s more, right? You can tell a lot more about where your ethnicity came from by who you match, and how. Vendors provide that information too, but you need to know where to look. Plus, I have some tips about how to use this information effectively.

Genealogists are always trying to squeeze every last drop of information out of every DNA test, so I’d like to illustrate how I use ethnicity in combination with shared matches at Ancestry, Family Tree DNA, MyHeritage and 23andMe. Each vendor has a few unique features and tools as well, plus people in their databases that other vendors don’t have.

Come along and see what you might discover!

Ancestry

Ancestry recently introduced a new ethnicity comparison feature so let’s start there. Ancestry’s new tool:

  • Compares the ethnicity of you and a match side by side.
  • Shows Shared Migrations
  • Shows you common matches with that person.

At Ancestry, I have a V1 (older) and a V2 (newer) test, so I’m comparing my own V1 to my own V2 test for purposes of illustration.

To start, click on DNA Matches. You’ll see a new blue compare button, beneath the green View Match button, at right.

Clink on any image to enlarge

Click on the blue Compare button. You’ll see a side by side display, shown below.

My V1, at left, compared to my V2 test, at right. My V2 test results do not have a photo uploaded, so you just see my initials. It’s interesting to note that even though these are both me, just tested on different chips, that my ethnicity doesn’t match exactly, although it’s mighty close.

Next, you’ll see the shared migrations between the two people being compared. This helps determine where your common ancestor might be found.

Last, you’ll see the shared matches between you and the other person. This means that those people match both you and the person you’re comparing against, suggesting a potential common ancestor.

On your matches page, you can also sort your matches by your regions.

Where Did Your Ethnicity Come From?

Ethnicity comparisons can be helpful, especially if you’re a person who carries DNA from different continents. I do not suggest trying to compare intra-continental estimates in the same way. It’s simply too difficult for vendors to separate DNA from locations that all border each other where countries are the size of states in the US, such as the Netherlands, Germany, France and Switzerland for example.

As I’ve said before, ethnicity results are only estimates, but they are relatively accurate at the continental level, plus Jewish, as illustrated below.

To be specific, these regions are the easiest for vendors to tell apart from the other regions:

  • European
  • African
  • Native American (North American, South American, Central American and Siberian in conjunction with the Americas)
  • Asian
  • Jewish

For example, if you are 30% African, 35% Native American and 35% European, you could use this information to form a hypothesis about how you match a particular individual or group of individuals.

If the person you match is 50% Asian and 50% African, it’s most likely that the region you match them on is the common African side.

Of course, the next step would be to look at the shared matches to see if those matches include your known relatives with African heritage. This is one reason I always encourage testing of relatives. Who you and your known relative both match tells you a lot about where the common ancestor of a matching group of individuals is found in your tree. For example, if someone matches you and a first cousin, then the common ancestor of the three people is on the side of your tree that you share with the first cousin.

Not exactly sure, or dealing with smaller amounts of continental ethnicity? There’s another way to work with ethnicity.

Ethnicity Match Chart

Make an Ethnicity Match Chart that includes the ethnicity of each person in the match group, as follows.

In this example, the only category in which all people fall is African, so that’s where I’d look in my tree first for a family connection.

Keep in mind that you match person 1, and people 2-4 match both you and person 1.

That does NOT mean that:

  • Person 2, 3 or 4 match each other.
  • Any of those people share the same ancestor with each other. Yes, you can match due to different ancestors that might not have anything to do with each other.
  • These people match on any of the same segments. You can’t view segments at Ancestry. You’ll have to transfer your results to Family Tree DNA, MyHeritage or GedMatch to do that.

Next, look at the trees for each person in the common match group and see if you can discern any common genealogy or even common geography. The best hints of course, at Ancestry, are those green leaf Shared Ancestor Hints. If you find a common ancestor or line, you’re well on your way to identifying how those people are related to you and potentially your match as well.

You could also use this methodology as an adaptation of or in tandem with the Leeds Method that I wrote about here.

Comparing Segments – Yes, You’ll Need To

Ancestry doesn’t offer a chromosome browser, but Family Tree DNA, MyHeritage, 23andMe and GedMatch all do, allowing you to view segments and triangulate. I always suggest uploading Ancestry results to GedMatch, Family Tree DNA and MyHeritage. 23andMe does not accept uploads.

You’ll find instructions for downloading from Ancestry here, uploading to Family Tree DNA here, and to MyHeritage here.

Other Vendors

Each vendor offers their own version of ethnicity comparison. All vendors offer in common with (ICW) and shared match tools too, so you can create your Ethnicity Match Chart for a specific group of people from any vendor’s results – although I don’t mix vendor results on one chart. Plus, every vendor has people in their matching database that no other vendor has, so fish in every pond.

Family Tree DNA

Family Tree DNA offers shared ethnicity information on the myOrigins map. To view, click on MyOrigins, then on View MyOrigins Map.

Testers who opt in can view their ethnicity as compared to their matches’ ethnicity. You can also sort by ethnicity as well as use the pin function at bottom right to drop Y and mtDNA most distant ancestor pins on the map.

Please note that this is NOT where your match lives, but is the location of their most distant matrilineal (mtDNA) or patrilineal (surname) known individual.

If you’re looking for Native American matches, for example, you might look for someone with some percentage of Native American autosomal DNA and/or Native American Y or mitochondrial haplogroups. Click on any pin to view that person and their ethnicity that matches yours. You can also search for a specific individual to see how your ethnicity lines up.

On your match list, look for common surnames with those matches, see who you match in common and check your matches’ trees.

Linking your DNA matches to their location in your tree enables you to participate in Phased Family Matching, meaning you can then select people that are assigned to your maternal or paternal sides to view in the chromosome browser.

When viewing all maternal (red icon) or all paternal (blue icon) matches together on the chromosome browser, the segments are automatically mathematically triangulated. All you need to do is identify the common ancestor!

I love Phased Family Matches. Family Tree DNA is the only vendor to offer this feature and to incorporate Y and mitochondrial DNA.

MyHeritage

MyHeritage provides multiple avenues for comparison, allowing users to select matches by their ethnicity, country or to simply compare their ethnicity to each other. To view matches by ethnicity, click on the Filter button, but note that not all ethnicity locations are included. You can also combine options, such as looking for anyone from the Netherlands with Nigerian DNA.

To view your matches ethnicity as compared to yours, click on the match and scroll down.

Look for people you match in common as well as the triangulation icon, shown at right, below. Another feature, SmartMatches (a filter option) sort for people who have common ancestors with you in trees.

I love triangulation and DNA SmartMatches and MyHeritage is the only vendor to offer this combination of tools!

23andMe

At 23andMe, you can see your ethnicity beside that of your match by clicking on DNA Relatives, on the Ancestry tab, then click on the person you wish to compare to. In my case, I’ve also taken the V3 and V4 test at 23andMe, so I’m comparing to myself.

At 23andMe, you can view which portions of your segments are attributed to which ethnicity. Under the Ancestry tab, click Ancestry Composition and scroll down to view your Ancestry Composition Chromosome Painting.

You can see my Native American segments on chromosomes 1 and 2.

Click on Scientific Details, then scroll to the bottom to download your ethnicity raw data that includes the segment detail for the location of those specific segments.

Utilizing these chromosome and segment locations with any other vendor who supports a chromosome browser, and determining which side that ethnicity descends through allows you to identify matches who should also carry segments of that same ethnicity at that same location.

Here’s my Native segment on chromosome 2 from the download file. Remember, you have two copies of every chromosome – and in my case, only one of those copies on Chromosome 2 is Native. I know it’s from my mother, so anyone matching me on my maternal side at this location on chromosome 2 should also have a Native segment, and our common ancestor is the source of our common Native American heritage.

23andMe is the only vendor to identify ethnicity segments.

23andMe does show matches in common and common matching segments on the chromosome browser, but they don’t support trees.

Your Turn!

If you carry ethnicity from multiple continents (plus Jewish), what hints can you derive from using your ethnicity as a match tool?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Family Tree DNA’s New Chromosome Browser

Family Tree DNA has released their new, updated chromosome browser with a completely new look and feel. It’s quite different from the previous version, so let’s take a test drive.

The first thing you notice is a new link on your personal page in the Family Finder section.

You can access the chromosome browser in one of two ways.

  • Matches button
  • Clicking on the Chromosome Browser button

Either way, you eventually get to the same place.

Matches

By viewing your matches, you can now select a total of 7 people, increased from 5 previously, to compare to you in the chromosome browser.

After selecting the people you want to view in the chromosome browser, click on the Chromosome Brower button above your matches, just like before.

Note that on your Matches page, the other tools, such as In Common With (ICW), Not In Common With (NICW), Search by name, Search by ancestral surname, the list of ancestral surnames for each match and other information is exactly where it has always been located. Nothing else changed on the Match page except your ability to select 7 people instead of just 5.

The Chromosome Browser

The new chromosome browser tool looks different. A lot different. It’s also much more intuitive.

If you make match selections on your match page and click the chromosome browser button, you see the following page reflecting your choices. The link no longer immediately compares the individuals in the chromosome browser.

Your match list is shown to the right of the selected individuals, shown at left.

This is also the page where you land if you click the Chromosome Browser button on your dashboard.

From Your Dashboard

If you don’t click on your Matches button first, and click directly on the Chromosome Browser button, this is what you’ll see.

Your matches are shown at right, and when you select them, they will appear on the list at left.

Select as many as 7. You’ll see them appear to the left as you make your selections.

Features

To aid in your selection, you can utilize the filter above the matches to view only specific levels of matches.

The “name search,” at upper right, searches for an individual match with that first or last name.

However, if you enter the full name, it finds that individual person, so if you know you want to compare Uncle Rex Doe’s kit, you just search for his name as Rex, Doe or Rex Doe.

This page does NOT search the ancestral surnames. If you want to do that, you need to work from the matches page which does search for people with that ancestral surname in their Ancestral Surname List.

I’m very glad to see this new search feature for matches at the browser level. It makes searching for a particular match a LOT easier.

Notice that not all of the match information is available on this page. X matching, match date, linked relationships and ancestral surnames are only available on the Matches page.

The icons for contacting matches, notes and the tree are also only available on the Matches page.

However, a new field is available here, the number of shared segments. This number includes segments to the 1cM level so long as they are 500 SNPs or larger. For most (nonresearch) purposes, I generally use segments of 7cM or larger, although I do sometimes want to see smaller segments.

At right, the In Common With and Not In Common With functions are available by clicking on the three dots:

In Common With and Not In Common With

The In Common With (ICW) and Not In Common With (NICW) features have been greatly improved.

By selecting an individual, such as William Sterling Estes in this example, then clicking the In Common With (ICW) link, I see all of the people I match in common with William Sterling Estes. Furthermore, the system now automatically puts William Sterling Estes into my match list. By making additional selections from that ICW list and adding them to the list, I can then easily compare my DNA, that of William Sterling Estes and the people that we both match to determine if we have common matching chromosome segments.

The Not In Common With feature works exactly the same way.

Compare

To view the new chromosome browser, click on the orange compare button at the bottom of the list. It’s so large you can’t miss it!

Chromosome Browser Format

The new chromosome browser itself looks a LOT different. To begin with, the color and design of the chromosomes themselves has changed. There is now space for 7 people in the comparison on each chromosome, plus you as the “background” person that those 7 are being compared to.

Chromosomes 1-5 with 7 matches being compared to me are shown below. At the top of the page, the colors of the segments are coded by the colors at the top of the profile placards of the matches I selected.

You can view information about any individual by clicking on their profile button.

By clicking on the Update Selected Matches button, at right above the chromosomes, you can change the individuals being compared.

Now, let’s take a look at how to interpret these matches.

Reading the Results

As before, the centromere is notated by the little white “waists” in each chromosome, and the light grey represents regions not tested, so you won’t see matches there.

Please note that you can click any image to enlarge.

Notice Charlene, the navy blue person match on my chromosome 1.

Reading left to right, we have:

  • At the beginning of the chromosome, dark grey tested region with no match
  • Beginning with the red box, navy blue match region
  • Light grey untested region, crossing centromere and continuing until small navy blue region
  • The entire small tested region is navy blue, indicating a match
  • Small light grey untested region
  • Dark grey tested region that does not match
  • Navy blue region that does match to the end of the red box
  • Dark grey tested region that does not match to the end of the chromosome

We would read this as 2 matching segments, not 3, with the first large navy segment and the tiny middle navy segment forming one contiguous segment across the centromere and untested regions. The third navy part of that chromosome is a separate matching segment, because it’s separated from the first two by a darker grey area that is tested but does not match.

By positioning your cursor over the colored portions of the chromosome, and waiting for a second or so, the information about that specific segment will appear.

Please note that you can click to enlarge any graphic.

Downloading Just These Matching Segments

Clicking on Download Segments, the blue link at right just above chromosome 1 downloads just the information in a csv file for the people currently being compared in the browser. It does not download all of your matches. That feature is elsewhere.

Options

The default minimum centiMorgans display view is still 5, and you can select 1, 5, 7 or 10. All matches displayed are 500 SNPs or larger.

Detailed Segment Data

Another new feature is the Detailed Segment Data tab. Click to view.

In essence, this is the same information as the csv download file, except you don’t have to download the file and you don’t have to know anything about Excel. However, you can’t sort this data by chromosome like you can in a spreadsheet.

You can select which DNA match you wish to view, one by one.

I hope that Family Tree DNA will add the feature of being able to sort each column.

Downloading All Matches

For those interested in downloading all matches, not just the matches displayed, you can perform that function at the bottom of your matches page:

Or at the bottom of the initial Chromosome Browser selection page, but BEFORE you click on compare.

Quick Reference Feature Navigation Chart

I’m always grateful for new features and updates, but sometimes new features feel a bit like someone rearranged the furniture in the room while you were sleeping. I’ve created a quick reference chart to show you what’s available where and to help you navigate.

Summary

I like the updated chromosome browser as well as the new In Common With feature. The new browser facilitates 7 comparisons at once and is a LOT more user friend with new ease-of-use features. The new ICW page eliminates several steps and confusion that exists when trying to use the function from the Matches page.

I’m hoping that this update is a new skin in preparation for more nifty new features, such as triangulation. Hint, hint, Family Tree DNA. Christmas is coming😊

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Family Tree DNA’s Mitochondrial Haplotree

On September 27th, 2018 Family Tree DNA published the largest Y haplotree in the world, based on SNP tests taken by customers. Now, less than two weeks later, they’ve added an exhaustive mitochondrial DNA (mtDNA) public haplotree as well, making this information universally available to everyone.

Family Tree DNA’s mtDNA Haplotree is based on the latest version of the mtDNA Phylotree. The new Family Tree DNA tree includes 5,434 branches derived from more than 150,000 full sequence results from 180+ different countries of origin. Family Tree DNA‘s tree has SIX TIMES more samples than the Phylotree. Furthermore, Family Tree DNA only includes full sequence results, where Phylotree includes partial results.

This new tree is a goldmine! What does it provide that that’s unique? Locations – lots of locations!

The Official Phylotree

Unlike the Y DNA tree, which is literally defined and constructed by the genetic community, new mitochondrial DNA branches cannot be added to the official mitochondrial Phylotree by Family Tree DNA. Haplogroups, meaning new branches in the form of SNPs are added to the Y tree as new SNPs are discovered and inserted into the tree in their proper location. The mitochondrial DNA phylotree can’t be expanded by a vendor in that manner.

The official mitochondrial Phylotree is maintained at www.phylotree.org and is episodically updated. The most recent version was mtDNA tree build 17, published and updated in February 2016. You can view version history here.

Mitochondrial Phylogenic Tree Version 17

Version 17 of the official mitochondrial tree consists of approximately 5,400 nodes, or branches with a total of 24,275 samples uploaded by both private individuals and academic researchers which are then utilized to define haplogroup branches.

Individuals can upload their own full sequence results from Family Tree DNA, but they must be in a specific format. I keep meaning to write detailed instructions about how to submit your full sequence test results, but so far, that has repeatedly slipped off of the schedule. I’ll try to do this soon.

In a nutshell, download your FASTA file from Family Tree DNA and continue with the submission process here. The instructions are below the submission box, so scroll down.

In any case, the way that new branches are added to the phylotree is when enough new results with a specific mutation are submitted and evaluated, the tree will have a new branch added in the next version. That magic number of individuals with the same mutation was 3 in the past, but now that so many more people are testing, I’m not sure if that number holds, or if it should. Spontaneous mutations can and do happen at the same location. The Phylotree branches mean that the haplogroup defining mutations indicate a common ancestor, not de novo separate mutations. That’s why analysis has to be completed on each candidate branch.

How do Mitochondrial DNA Branches Work?

If you are a member of haplogroup J1c2f today, and a certain number of people in that haplogroup have another common mutation, that new mutation may be assigned the designation of 1, as in J1c2f1, where anyone in haplogroup J1c2f who has that mutation will be assigned to J1c2f1.

While the alternating letter/number format is very easy to follow, some problems and challenges do exist with the alternating letter/number haplogroup naming system.

The Name of the Game

The letter number system works fine if not many new branches are added, branches don’t shuffle and if the growth is slow. However, that’s not the case anymore.

If you recall, back in July of 2012, which is equivalent to the genetic dark ages (I know, right), the Y tree was also represented with the same type of letter number terminology used on the mitochondrial tree today.

For example, Y DNA haplogroup R-M269 was known as R1b1a2, and before that the same haplogroup was known as R1b1c. The changes occurred because so many new haplgroups were being discovered that a new sprout wasn’t added from time to time, but entire branches had to be sawed off and either discarded or grafted elsewhere. It became obvious that while the R1b1a2 version was nice, because it was visually obvious that R1b1a2a was just one step below R1b1a2, that long term, that format just wasn’t going to be able to work anymore. New branches weren’t just sprouting, wholesale shuffling was occurring. Believe it or not, we’re still on the frontier of genetic science.

In 2012, the change to the SNP based haplogroup designations was introduced by Family Tree DNA, and adopted within the community.

The ISOGG tree, the only tree that still includes the older letter/number system and creates extended letter number haplogroup names as new SNPs are added provides us with an example of how much the Y tree has grown.

You can see that the letter/number format haplogroups to the far right are 19 locations in length. The assigned SNP or SNPs associated with that haplogroup are shown as well. Those 19-digit haplogroup names are just too unwieldy, and new haplogroups are still being discovered daily.

It’s 2012 All Over Again

That’s where we are with mitochondrial DNA today, but unlike Y DNA naming, a vendor can’t just make that change to a terminal SNP based naming system because all vendors conform to the published Phylotree.

However, in this case, the vendor, Family Tree DNA has more than 6 times the number of full sequence mitochondrial results than the mitochondrial reference model Phylotree. If you look at the haplogroup projects at Family Tree DNA, you’ll notice that (some) administrators routinely group results by a specific mutation that is found within a named haplogroup, meaning that the people with the mutation form a subgroup that they believe is worthy of its own haplogroup subgroup name. The problem is that unless enough people upload their results to Phylotree, that subgroup will never be identified, so a new haplogroup won’t be added.

If the entire Family Tree DNA data base were to be uploaded to Phylotree, can you imagine how many new haplogroups would need to be formed? Of course, Family Tree DNA can’t do that, but individual testers can and should.

Challenges for Vendors

The challenge for vendors is that every time the phylotree tree is updated and a new version is produced, the vendors must “rerun” their existing tester samples against the new haplogroup defining mutations to update their testers’ haplogroup results.

In some cases, entire haplogroups are obsoleted and branches moved, so it’s not a simple matter of just adding a single letter or digit. Rearranging occurs, and will occur more and more, the more tests that are uploaded to Phylotree.

For example, in the Phylotree V17 update, haplogroup A4a1 became A1a. In other words, some haplogroups became entirely obsolete and were inserted onto other branches of the tree.

In the current version of the Phylotree, haplogroup A4 has been retired.

Keep in mind that all haplogroup assignments are the cumulative combination of all of the upstream direct haplogroups. That means that haplogroup A4a1, in the prior version, had all of the haplogroup defining mutations shown in bold in the chart below. In the V17 version, haplogroup A1a contains all of the mutations shown in bold red. You might notice that the haplogroup A4 defining mutation T16362C is no longer included, and haplogroup A4, plus all 9 downstream haplogroups which were previously dependent on T16362C have been retired. A4a1 is now A1a.

Taking a look at the mitochondrial tree in pedigree fashion, we can see haplogroup A4a1 in Build 15 from September 2012, below.

Followed by haplogroup A1a in the current Build 17.

Full Sequence Versus Chip Based Mitochondrial Testing

While Family Tree DNA tests the full sequence of their customers who purchase that level of testing, other vendors don’t, and these changes wreak havoc for those vendors, and for compatibility for customer attempting to compare between data bases and information from different vendors.

That means that without knowing which version of Phylotree a vendor currently uses, you may not be able to compare meaningfully with another user, depending on changes that occurred that haplogroup between versions. You also need to know which vendor each person utilized for testing and if that vendor’s mitochondrial results are generated from an autosomal style chip or are actually a full mitochondrial sequence test. Utilizing the ISOGG mtDNA testing comparison chart, here’s a cheat sheet.

Vendor No Mitochondrial Chip based haplogroup only mitochondrial Full Sequence mitochondrial
Family Tree DNA No Yes – V17
23andMe Yes – Build V7 No
Ancestry None
LivingDNA Yes – Build V17 No
MyHeritage None
Genographic V2 Yes – Build V16 No

Of the chip-based vendors, 23andMe is the most out of date, with V7 extending back to November of 2009. The Genographic Project has done the best job of updating from previous versions. LivingDNA entered the marketplace in 2016, utilizing V17 when they began.

Family Tree DNA’s mitochondrial test is not autosomal chip based, so they don’t encounter the problem of not having tested needed locations because they test all locations. They have upgraded their customers several times over the years, with the current version being V17.

Family Tree DNA’s mitochondrial DNA test is a separate test from their Family Finder autosomal test while the chip-based vendors provide a base-level haplogroup designation that is included in their autosomal product. However, for chip-based vendors, updating that information can be very challenging, especially when significant branch changes occur.

Let’s take a closer look.

Challenges for Autosomal Chip-Based Vendors Providing Mitochondrial Results

SNP based mitochondrial and Y DNA testing for basic haplogroups that some vendors include with autosomal DNA is a mixed blessing. The up side, you receive a basic haplogroup. The down aide, the vendor doesn’t test anyplace near all of the 16,569 mitochondrial DNA SNP locations.

I wrote in detail about how this works in the article, Haplogroup Comparisons Between Family Tree DNA and 23andMe. Since that time, LivingDNA has also added some level of haplogroup reporting through autosomal testing.

How does this work?

Let’s say that a vendor tests approximately 4000 mitochondrial DNA SNPs on the autosomal chip that you submit for autosomal DNA testing. First, that’s 4000 locations they can’t use for autosomal SNPs, because a DNA chip has a finite number of locations that can be utilized.

Secondly, and more importantly, it’s devilishly difficult to “predict” haplogroups at a detailed level correctly. Therefore, some customers receive a partial haplogroup, such as J1c, and some receive more detail.

It’s even more difficult, sometimes impossible, to update haplogroups when new Phylotree versions are released.

Why is Haplogroup Prediction and Updating so Difficult?

The full mitochondrial DNA sequence is 16,569 locations in length, plus or minus insertions and deletions. The full sequence test does exactly what that name implies, tests every single location.

Now, let’s say, by way of example, that location 10,000 isn’t used to determine any haplogroup today, so the chip-based vendors don’t test it. They only have room for 4000 of those locations on their chip, so they must use them wisely. They aren’t about to waste one of those 4000 spaces on a location that isn’t utilized in haplogroup determination.

Let’s say in the next release, V2, that location 10,000 is now used for just one haplogroup definition, but the haplogroup assignment still works without it. In other words, previously to define that haplogroup, location 9000 was used, and now a specific value at location 10,000 has been added. Assuming you have the correct value at 9,000, you’re still golden, even if the vendor doesn’t test location 10,000. No problem.

However, in V3, now there are new haplogroup subgroups in two different branches that use location 10,000 as a terminal SNP. A terminal SNP is the last SNP in line that define your results most granularly. In haplogroup J1c2f, the SNP(s) that define the f are my terminal SNPs. But if the vendor doesn’t test location 10,000, then the mutation there can’t be used to determine my terminal SNP, and my full haplogroup will be incomplete. What now?

If location 10,000 isn’t tested, the vendor can’t assign those new haplogroups, and if any other haplogroup branch is dependent on this SNP location, they can’t be assigned correctly either. Changes between releases are cumulative, so the more new releases, the further behind the haplogroup designations become.

Multiple problems exist:

  • Even if those vendors were to recalculate their customer’s results to update haplogroups, they can’t report on locations they never tested, so their haplogroup assignments become increasingly outdated.
  • To update your haplogroup when new locations need to be tested, the vendor would have to actually rerun your actual DNA test itself, NOT just update your results in the data base. They can’t update results for locations they didn’t test.
  • Without running the full mitochondrial sequence, the haplogroup can never be more current than the locations on the vendor’s chip at the time the actual DNA test is run.
  • No vendor runs a full sequence test on an autosomal chip. A full mitochondrial sequence test at Family Tree DNA is required for that.
  • Furthermore, results matching can’t be performed without the type of test performed at Family Tree DNA, because people carry mutations other than haplogroup defining mutations. Haplogroup only information is entertaining and can sometimes provide you with base information about the origins of your ancestor (Native, African, European, Asian,) but quickly loses its appeal because it’s not specific, can’t be used for matching and can’t reliably be upgraded.

The lack of complete testing also means that while Family Tree DNA can publish this type of tree and contribute to science, the other vendors can’t.

Let’s take a look at Family Tree DNA’s new tree.

Finding the Tree

To view the tree, click here, but do NOT sign in to your account. Simply scroll to the bottom of the page where you will see the options for both the Y DNA Haplotree and the mtDNA Haplotree under the Community heading.

Click on mtDNA Haplotree.

If you are a Family Tree DNA customer, you can view both the Y and mitochondrial trees from your personal page as well. You don’t have to have taken either the Y or mitochondrial DNA tests to view the trees.

Browsing the mtDNA Tree

Across the top, you’ll see the major haplogroups.

I’m using haplogroup M as an example, because it’s far up the tree and has lots of subgroups. Only full sequence results are shown on the tree.

The basic functionality of the new mitochondrial tree, meaning how it works, is the same as the Y tree, which I wrote about in the Family Tree DNA’s PUBLIC Y DNA Haplotree.

You can view the tree in two formats, countries or variants, in the upper left-hand corner. View is not the same thing as search.

When viewing the mitochondrial DNA phylotree by country, we see that haplogroup M has a total of 1339 entries, which means M and everything below M on the tree.

However, the flags showing in the M row are only for people whose full mitochondrial sequence puts them into M directly, with no subgroup.

As you can see, there are only 12: 6 people in Australia, and one in 5 other countries. These are the locations of the most distant known ancestor of those testers. If they have not completed the maternal Country of Origin on the Earliest Known Ancestor tab, nothing shows for the location.

Viewing the tree by variant shows the haplogroup defining mutations, but NOT any individual mutations beyond those that are haplogroup defining.

For each haplogroup, click on the three dots to the right to display the country report for that haplogroup.

The Country Report

The Country Report provides three columns.

The column titled Branch Participants M shows only the total of people in haplogroup M itself, with no upstream or downstream results, meaning excluding M1, M2, etc. Just the individuals in M itself. Be sure to note that there may be multiple pages to click through, at bottom right.

The second column, Downstream Participants – M and Downstream (Excluding other Letters) means the people in haplogroup M and M subclades. You may wonder why this column is included, but realize that branches of haplogroup M include haplogroups G, Q, C, Z, D and E. The middle column only includes M and subgroups that begin with M, without the others, meaning M, M10, M11 but not G, Q, etc.

Of course the final column, All Downstream Participants – M and Downstream (Including other Letters) shows all of the haplogroup M participants, meaning M and all subclades, including all other haplogroups beneath M, such as M10, G, Q, etc..

What Can I Do with This Information?

Unlike the companion Y tree DNA, since surnames change every generation for maternal lineages, there is no requirement to have multiple matching surnames on a branch to be displayed.

Therefore, every person who includes a location for a most distant known ancestor is included in the tree, but surnames are not.

I want to see, at a glance, where the other people in my haplogroup, and the haplogroups that are the “direct ancestral line” of mine are found today. Clusters may mean something genealogically or are at least historically important – and I’ll never be able to view that information any other way. In fact, before this tree was published, I wasn’t able to see this at all. Way to go Family Tree DNA!!

It’s very unlikely that I’ll match every person in my haplogroup – but the history of that haplogroup and all of the participants in that haplogroup are important to that historical lineage of my family. At one time, these people all shared one ancestor and determining when and where that person lived is relevant to my family story.

Searching for Your Haplogroup

I’m searching for haplogroup J1c2f by entering J1c2f in the “Go to Branch Name.”

There it is.

I can see that there are 17 people in Sweden, 13 in Norway, 5 in Germany, 3 in Russia, etc. What’s with the Scandinavian cluster? My most distant known ancestor was found in Germany. There’s something to be learned here that existing records can’t tell me!

The mother branch is J1c2 which shows the majority of individuals in Ireland followed by England. This probably suggests that while J1c2f may have been born in Scandinavia, J1c2 probably was not. According to the supplement to Dr. Doron Behar’s paper, A “Copernican” Reassessment of the Human Mitochondrial DNA tree from its Root, which provides ages for some mitochondrial DNA haplogroups:

Haplogroup How Old Standard Deviation Approximate Age Range in Years
J1c2 9762 2010 7,752 – 11,772
J1c2f 1926 3128 500 – 5,054

I happen to know from communicating with my matches that the haplogroup J1c2f was born more than 500 years ago because my Scandinavian mito-cousins know where their J1c2f cousin was then, and so do I. Mine was in Germany, so we know our common ancestor existed sometime before that 500 year window, and based on our mutations and the mutation tree we created, probably substantially before that 500 year threshold.

Given that J1c2, which doesn’t appear to have been born in Scandinavia is at least 7,700 years old, we can pretty safely conclude that my ancestor wasn’t in Scandinavia roughly 9,000 years ago, but was perhaps 2,000 years, ago when J1c2f was born. What types of population migration and movement happened between 2,000 and 9,000 years ago which would have potentially been responsible for the migration of a people from someplace in Europe into Scandinavia.

The first hint might be that in the Nordic Bronze Age, trade with European cultures became evident, which of course means that traders themselves were present. Scandinavian petroglyphs dating from that era depict ships and art works from as far away as Greece and Egypt have been found.

The climate in Scandinavia was warm during this period, but later deteriorated, pushing the Germanic tribes southward into continental Europe about 3000 years ago. Scandinavian influence was found in eastern Europe, and numerous Germanic tribes claimed Scandinavian origins 2000 years ago, including the Bergundians, Goths, Heruls and Lombards.

Hmmm, that might also explain how my mitochondrial DNA, in the form of my most distant known ancestor arrived in Germany, as well as the distribution into Poland.

Is this my family history? I don’t know for sure, but I do know that the clustering information on the new phylotree provides me with clustering data to direct my search for a historical connection.

What Can You Do?

  • Take a full mitochondrial DNA test. Click here if you’d like to order a test or if you need to upgrade your current test.
  • Enter your Earliest Known Ancestor on the Genealogy tab of your Account Information, accessed by clicking the “Manage Personal Information” beneath your profile photo on your personal page.

The next few steps aren’t related to actually having your results displayed on the phylotree, but they are important to taking full advantage of the power of testing.

  • While viewing your account information, click on the Privacy and Sharing tab, and select to participate in matching, under Matching Preferences.

  • Also consent to Group Project Sharing AND allow your group project administrators to view your full sequence matches so that they can group you properly in any projects that you join. You full sequence mutations will never be shown publicly, only to administrators.

Of course, always click on save when you’re finished.

  • Enter your most distant ancestor information on your Matches Map page by clicking on the “Update Ancestor’s Location” beneath the map.

  • Join a project relevant to your haplogroup, such as the J project for haplogroup J. To join a project, click on myProjects at the top of the page, then on Join Projects.

  • To view available haplogroup projects, scroll down to the bottom of the screen that shows you available projects to join, and click on the letter of your haplogroup in the MTDNA Haplogroup Projects section.

  • Locate the applicable haplogroup, then click through to join the project.

These steps assure that you’ve maximized the benefits of your mitochondrial results for your own research and to your matches as well. Collaborative effort in completing geographic and known ancestor information means that we can all make discoveries.

The article, Working with Mitochondrial DNA Results steps you through you all of the various tools provided to Family Tree DNA testers.

Now, go and see who you match, where your closest matches cluster, and on the new mtDNA Haplotree, what kind of historical ancestral history your locations may reveal. What’s waiting for you?

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Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

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I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

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DNAPainter: Painting Leeds Method Matches

Last week, I wrote about how I utilized the Leeds Method in the article, The Leeds Method. What I didn’t say is that I was sizing up the Leeds Method for how I could use the technique to paint additional segments of my chromosomes.

The Leeds Method divides your matches into four groups, one attributable to each grandparent. That means those matches can be painted to your four sets of great-grandparents, assuming you can identify the maternal and paternal groups. Hint – Y and mitochondrial DNA matching or haplogroups may help if you have no better hints.

For genealogists who know who their grandparents are, testing close relatives and cousins is a must in order to be able to associate matches with your four grandparents’ lines.

Please note that the Leeds method generates hints for genealogists by grouping people according to common matches. We must further evaluate those matches by doing traditional genealogy and by looking for segments that triangulate. The Leeds method in conjunction with the actual match results at vendors, combined with DNAPainter helps us do just that.

Utilizing DNAPainter

Since I’ve been able to sort matches into maternal and paternal “sides” using the Leeds Method, which in essence parentally phases the matches, I can use DNAPainter to paint them. Here are my four articles I wrote about how to utilize DNAPainter.

DNAPainter – Chromosome Sudoku for Genetic Genealogy Addicts 
DNAPainter – Touring the Chromosome Garden 
DNAPainter – Mining Vendor Matches to Paint Your Chromosomes 
Proving or Disproving a Half Sibling Relationship Using DNAPainter

Combining the Two Tools

DNAPainter has the potential to really utilize the Leeds Method results, other than Ancestry matches of course. Ancestry does not provide segment information. (Yes, I know, dead horse but I still can’t resist an occasional whack.)

You’re going to utilize your spreadsheet groupings to paint the DNA from each individual match at the vendors to DNAPainter.

On the spreadsheet, if these matches are from Family Tree DNA, MyHeritage, 23andMe or GedMatch, you’ll copy the matching segments from that vendor and paint those matching segments at DNAPainter. I explained how to do that in the articles about DNAPainter.

I do not use mass uploads to DNAPainter, because it’s impossible to assign those to different sides of your tree or ancestors. I paint individual matches, including information about the match and what I know about the history of the segment itself or associated ancestor.

I only paint segments that I can identify with certainty as maternal or paternal.

Pushing Back in Time

Based on which segments of identified ancestors the Leeds matches overlap with at DNAPainter, I can push that segment information further back in time. The blessing of this is that these Leeds matches may well fill in several blanks in my chromosome that are not yet painted by people with whom I share identified ancestors.

Even if your maternal and paternal grandparents are intermarried on each side, as long as they are not intermarried across your parental lines (meaning mother & father,) then the Leeds Method will work fine for painting. Even if you think you are attributing a segment to your paternal grandmother, for example, and the person actually matches through your paternal grandfather, you’ve still painted them on the correct chromosome – meaning your paternal chromosome. As you build up that chromosome with matches, you’ll see soon enough if you have 9 matches attributed to John Doe and one to Jane Smith, the Jane Smith match is likely incorrectly attributed, those two lines are somehow interrelated or it’s a false positive match.

Because I work with only fairly large Leeds matches – nothing below 30 cM, I sometimes receive a nice gift in terms of painting large previously unpainted segments – like the one on my mother’s side, below.

Look at this large green segment on chromosome 19 that I painted thanks to one of the Leeds matches, Harold. (Note that the two long blue and brown bars at the bottom of each chromosome are my ethnicity, not matches.) Another benefit is that if a Leeds match matches on already identified segments assigned to ancestors, I’ve just identified which ancestral lines I share with that match.

The green Ferverda side match to Roland through the Leeds Method aligns partially with a segment already known to descend from Jacob Lentz and Frederica Ruhle who were born in the 1780s. I’m related to Roland somehow through that line, and by just looking at his (redacted here) surname, I *think* I know how, even though he doesn’t have a tree online. How cool is that!

Important Notes for DNAPainter

Word of caution here. I would NOT paint anyone who falls into multiple match groups without being able to identify ancestors. Multiple match groups may indicate multiple ancestors, even if you aren’t aware of that.

Each segment has its own history, so it’s entirely possible that multiple match groups are accurate. It’s also possible that to some extent, especially with smaller segments, that matches by chance come into play. That’s why I only work with segments above 30 cM when using the Leeds method where I know I’m safe from chance matches. You can read about identical by descent (IBD) and identical by chance (IBC) matches here.

What a DNAPainter Leeds Match Means

It’s very important to label segments in DNAPainter with the fact that the source was through the Leeds Method.

These painted matches DO NOT MEAN that the match descends from the grandparent you are associating with the match.

It means that YOU inherited your common DNA with this match FROM that grandparent. It suggests that your match descends from one of the ancestors of this couple, or possibly from your great-grandparents, but you don’t necessarily share this great-grandparent couple with your match.

That’s different than the way I normally paint my chromosomes – meaning only when a specific common ancestor has been identified. For someone painted from matches NOT identified through the Leeds Method, if I know the person descends from a grandparent, I paint them to the great-grandparent couple. People painted through the Leeds Method don’t necessarily share that couple, but do share an ancestor of that couple.

When I paint using the Leeds method, I’m assigning the match to a set of great-grandparents because I can’t genealogically identify the common ancestor further upstream, so I’m letting genetics tell me which genealogical quadrant they fall into on my tree. With the Leeds Method, I can tell which grandparent I inherited that DNA through. In my normal DNAPainter methodology, I ONLY paint matches when I’ve identified the common ancestor – so Leeds Method matches would not previously have qualified.

I don’t mean to beat this to death and explain it several ways – but it’s really important to understand the difference and when looking back, understand why you painted what you did.

Labeling Leeds Match Painted Segments

Therefore, with Leeds Method match painting, I identify the match name as “John Doe FTDNA Leeds-Ferverda” which tells me the matches name (John Doe,) where they tested (FTDNA) and why I painted them (Ferverda column in my Leeds spreadsheet,) even though I don’t know for sure which ancestor we actually have in common. I paint them to the parents of my Ferverda grandfather. Not John Ferverda, my grandfather, but to his parents, Hiram Ferverda and Eva Miller. I know I received my matching DNA through one of them – I just don’t know which person of that couple yet.

However, looking at who else is assigned to that segment with an identified common ancestor will tell me where in my tree that segment originated – for me. We still don’t know where in your matches tree that segment originated.

“Match To” Issues

Lastly, if you happen to select a “match to” person to represent one of your grandparent matches that just happens to be descended from two grandparent lines, you’ve had your bad luck for the month. Remember, your “match to” person is the first person (closest match) that hasn’t yet been grouped, so you don’t really select them. If you realize you’re getting goofy results, stop and undo those results, then select the next candidate as your “match to” person.

At one vendor, when I selected the first person who hadn’t yet been grouped and used them for the red column which turned out to be Bolton, about half of them overlapped with Estes segments that I’ve already painted and confirmed from several sources. Obviously, there’s a problem someplace, and I’m guessing it just happens to be the luck of the draw with the “match to” person being descended from both lines. The lines both lived in the same county for generations. I need to redo that section with someone whose tree I know positively descends from the Bolton line and does NOT intersect with another of my lines. However, I was able to identify that this issue existed because I’ve already painted multiple ancestor-confirmed cousins who carry those same segments – and I know where they came from.

These tools are just that – tools and require some level of analytical skill and common sense. In other words, it’s a good idea to stay with larger matches and know when to say “uh-oh.” If it doesn’t feel right, don’t paint it.

Breaking Down Distant Brick Walls

I’m still thinking about how to use the Leeds Method, probably in combination with DNAPainter, to break down brick walls. My brick walls aren’t close in time. Most of them are several generations back and revolve around missing female surnames, missing records or ancestors appearing in a new location with no ability to connect them back to the location/family they left.

In essence, I would need to be able to isolate the people matching that most distant ancestor couple, then look for common surnames and ancestors within that match group. The DNAGedcom.com client which allows you to sort matches by surname might well be an integral piece of this puzzle/solution. I’ll have to spend some time to see how well this works.

Solving this puzzle would be entirely dependent on people uploading their trees.

If you have thoughts on how to use these tools to break down distant brick walls, or devise a methodology, please let me know.

And if you haven’t uploaded your tree, please do.

Would I Do The Leeds Method Again?

Absolutely, at least for the vendors who provide segment information.

I painted 8 new Leeds matches from Family Tree DNA on my Ferverda grandparent side which increased the number of painted segments at DNAPainter from 689 to 704, filled in a significant number of blank spaces on my chromosomes, and took my total % DNA painted from 60 to 61%. I added the rest of my Leeds hints from Family Tree DNA of 30 cM or over, and increased my painted segments to 734 and my percentage to 62% I know that 1 or 2% doesn’t sound like a very big increase, but it’s scientific progress.

It’s more difficult to increase the number of new segments after you’ve painted much of your genome because many segments overlap segments already painted. So, a 2% increase is well worth celebrating!

Having said that, I would love for the vendors to provide this type of clustering so I don’t have to. To date, Family Tree DNA is the only vendor who does any flavor of automatically bucketing results in this fashion – meaning paternal and maternal, which is half the battle. I would like to see them expand to the four grandparents from the maternal/paternal matching they provide today.

We’ve been asking Ancestry for enhanced tools for years. There’s no reason they couldn’t in essence do what Dana has done along with provide the DNAgedcom.com search functionality. And yes…I still desperately want a chromosome browser or at least segment information.

I will continue to utilize the Leeds Method, at least with vendors other than Ancestry because it allows me to incorporate the results with DNAPainter. It’s somehow ironic that I started out grouping the Ancestry results, but wound up realizing that the results from other vendors, specifically Family Tree DNA and MyHeritage are significantly more useful due to the segment data and combined tools.

Getting the Most Bang for Your Buck

If you tested at Ancestry or 23andMe, I would strongly encourage you to download your raw data file from both of these vendors and transfer to Family Tree DNA, MyHeritage and GedMatch to get the most out of your DNA tests. Here is the step-by-step guide for how to download your DNA from Ancestry.

The uploads to those three locations are free. All tools are free at MyHeritage until December 1, 2018 when they will begin charging for more advanced tools. The upload is free at Family Tree DNA and the advanced tools, including the chromosome browser, only require a $19 unlock.

Here is the step-by-step guide for uploading to MyHeritage and to Family Tree DNA. Fishing in every pond is critically important. You never know what you’re missing otherwise!

How many segments of your DNA can you paint using the Leeds Method in combination with DNA Painter?

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I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

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