One Chromosome, Two Sides, No Zipper – ICW and the Matrix

Posted on December 15, 2013 by Roberta Estes

The questions I’ve received most often since the release of the new Family Finder Matrix from Family Tree DNA has to do with matches. Specifically, what the “In Common With” feature is telling you versus what the Family Finder “Matrix” is telling you and how to utilize all of this information together. At the bottom of this confusion is often a fundamental lack of understanding of how matching occurs and what it means in different contexts.

Let’s talk about this, step by step.

The “in common with” function (called triangulation for a few weeks, but now labeled “run common matches” ) shows you every person that you and one of your matches, match with in common. I’ll be running this option for my matches with cousin David, shown below.

Here’s an example of my matches in common with my cousin, David.

The Family Finder Matrix takes this information a bit further and shows you whether or not the people involved with this match, match each other as well.

In this case, I happen to know that my cousins Harold, Carl and Dean will match each other on my father’s side, as will my cousin David. Warren doesn’t have firm genealogy, but from this, we can tell that he is indeed connected to this family group because he matches me, David, Harold and Carl, but not Dean and not Nova. We have no idea how Nova connects to this line, if she does. Notice that Nova does not match any of the other people in this group in the matrix below. That means that my and David’s common ancestor with her is likely not from this same ancestral line shared by Harold, Carl and Dean.

From this point forward, I would drop back to my trusty downloaded full match spreadsheet that I maintain to see if indeed any of these people match me and my known cousins on the same segments. If so, that confirms a family/ancestor relationship. On the snipped from my spreadsheet below, you can see that Warren indeed matches both Buster and David and I, but not on the same segments. Nova didn’t match any grouping on the same segments. However, Buster and David both match me on the same portion of chromosome 19, so this confirms that we do share a common ancestor. In this case, we also know, from our genealogy that the common ancestor is Lazarus Estes and wife, Elizabeth Vannoy. Based on our multiple cousin matches, we can say that Warren is somehow connected to this line, but we can’t say how.

I’ve had comments like “I have everything I need on my spreadsheet – I can see where all of my matches match me.” And indeed, you can, but it’s not everything you need. Here’s why.

Without additional information, you can’t tell, by just looking at your spreadsheet whether two people who match you on the same segment are matching on your Mom or Dad’s side. For example, above, I know that both David and Buster are from my Dad’s line, but if I didn’t know that, one of them could be from Mom’s line and one could be from Dad’s, and while they are both related to me, on the same chromosome, they would, in that case, not be related to each other. So, my spreadsheet of matches tells me clearly THAT people match me, and where, but it doesn’t tell me HOW or on which side. For that, I need additional tools like ICW, the Matrix and plain old genealogy research.

This is the fundamental concept of matching and in a nutshell, why it’s so difficult.

Every Chromosome Has Two Sides

There are two sides to every chromosome, Mom’s side and Dad’s side. Except nature has played a cruel trick on us and not installed a zipper. There are no Mom and Dad labels. There is no dividing that DNA or those matches in half magically, except by determing who they match, and how they do or don’t match each other.

When we match ourselves against our parents, for example, we then know immediately which half of our DNA came from which parent, but if you don’t have any parents available to match against, then you have to use genealogy or cousin matches to figure that out.

I talk about that in the Chromosome Mapping aka Ancestor Mapping article.

I’m going to use spreadsheets as examples here. It think they are easier to see and understand, plus, I can manipulate them easily to reflect different situations.

Example 1 – The Very Basics of Matching

At each DNA location, or address, you have two alleles, one from each parent. These alleles can have one of 4 values, or nucleotides, at each location, represented by the abbreviations T, A, C and G, short for Thymine, Adenine, Cytosine and Guanine. That’s it, you’re done with all the science words now, so keep reading:)

On any given chromosome, from locations 1-20, you have the following DNA, in our example.

From Mom, you received all As and from Dad, all Cs. You know that because I’m telling you, but remember, the matching software doesn’t know that because there is no zipper in your DNA. All the software sees are that you have both an A and an C in location 1 and either an A or C is considered a match.

In fact, this is what the software sees. Be aware that in this case, AC=CA.

Easy so far, right?

Example Two – Mom’s Known Cousin and Dad’s Known Cousin

Now you have two cousins, Mary and Myrtle. You know, from having known them all of your life and sharing lots of Thanksgiving turkey that they are your family and you know clearly which side of your family they descend from. Both of your cousins, Mary and Myrtle match you at the same locations on this chromosome, from 5-15.

But Mary is your mother’s cousin, and Myrtle is your Dad’s cousin. So even though they both match you on the same exact chromosome and the same location, they do not match each other. Well, let’s put it this way, if they also match each other, then you have an entirely different family genetic genealogy problem, called endogamy, and yes, you might be your own grandpa…but I digress. But we’re going to assume for this discussion that your mother and father are not related to each other and do not share common ancestors.

Still easy, right?

Example Three – An Unknown Cousin

Next, we have Martha. You don’t know Martha, and you don’t know how she is related, but she obviously is. Martha matches you, but she does not match Myrtle at all, and she doesn’t match Mary on enough overlapping chromosomes to be considered a match to her. You can see their common match here between Mary and Martha in location 5. In this case, as it turns out, Martha IS a cousin to Mary on Mom’s side, but we can’t tell that from this information because they don’t match in enough common locations to be above the matching threshold. With this information, you can’t draw any conclusions. You will have to wait to see who else Martha matches and look on your spreadsheet to see if Martha matches any of your known cousins and you on common segments which would confirm a common ancestor. Your download spreadsheet will contain much more detailed information because once you match on any segment above the match threshold of about 7.7cM (plus a few other factors,) all matching segments of 1cM or above are downloaded – so you have a lot of information to work with.

But using both the ICW and matrix tools, Mary might cluster with other cousins on Mom’s side which would provide us with clues as to her relationship. In fact, the first thing I’d do is to run an ICW with Mary and then utilize the Matrix tool to further define those relationships.

Still not difficult.

Example Four – A “False Match”

Next we have Jeremy who is also a match to you.

If you look at how Jeremy matches, you can see that he is actually matching on both sides, Mom’s and Dad’s side, but randomly. Technically, he is a match to you, because he does match one or the other of your nucleotides at each location, A or C, but without a zipper, we have no idea HOW that DNA is divided in you between Mom and Dad. In other words, the software doesn’t know that Mom was all A and Dad was all C, unless we’ve phased the data against your parents AND the software knows how to utilize that information.

However, if your parents are one of your matches, you can immediately see which side the match falls on, if either. In this case, Jeremy doesn’t fall on either side because he is simply a circumstantial match, also known as a match my convergence or a false match. This is also called IBS, or identical by state, as opposed to IBD, identical by descent. The smaller the segment you show as a match, especially if there is no clustering, the more likely the match is to be IBS instead of the genealogically desirable IBD.

When people ask how someone can match a child but not a parent, this is the answer. He matches you on 11 segments, circumstantially, but he only matches your parents on 5 and 6 segments, respectively, which often (but not always) puts him under the matching threshold. Jeremy may also match Mary, depending on the thresholds.

This is also how someone can match in the “in common with” tool, but not be a match to anyone on the match list in the Matrix. In fact, this is the power of these multiple tools.

This also doesn’t mean this match is entirely useless, because you DO match. It may simply not be relevant genealogically. In “The Autosomal Me” series, I’ve utilized very small match segments that in fact very probably ARE reflective of a common population and not of recent ancestry. In my Native American research, this is exactly what I was looking for. You may not be able to utilize this information today, but don’t entirely discount it either. Just set it aside and move on to a more productive match.

Example Five – Common Matches, Different Ancestors

This situation provides clues, but no proof.

Mary and Joyce both match me on Mom’s segments, but they do not match each other. They don’t match me on the same segments, so this indicates that they are probably from different ancestors in my Mother’s lines. As more matches appear, the clusters of people and their genealogy will make this more apparent.

In order to determine which ancestors, I’ll need to work on the genealogy of both Mary and Joyce and see who else they also match on the same segments. Sometimes the secret of the genealogy match is in the genealogy research or descent of your matches.

Example Six – Clusters of Cousins

In this example, no one matches Dad, so he’s just out for now. Susie and Mary match mom on the same segment, which proves that the three of these people share a common ancestor. Mom and Joyce match each other too, but Joyce doesn’t match Mary and Susie, so they won’t cluster together on the matrix. However, on the ICW tool, all three women, Joyce, Mary and Susie will match me and Mom.

Using the ICW tool if I were to ICW with Mom, you would see this list:

Joyce
Mary
Susie

The question then becomes, are Joyce, Mary and Susie related to each other, or not. If so, and to me and Mom, then that indicates a common ancestor within the match group, like me, Joyce and Mom. The second group doesn’t match the first group – me, Mary, Mom and Susie. Using these tools together, these people clearly fall into two match groups, the green and blue on the spreadsheet below. But remember, the match routine doesn’t know which side your As and Cs came from. All it knows is that you match these people. But based on these groups and my download spreadsheet common segment matches, I can tell that I’m working with two ancestral lines.

My matrix for these people would look like this:

My master matching spreadsheet would now look like this.

When we started, all I would have been able to see is that all of these people matched Mom and Dad and I on the same segments. By utilizing the various tools, I was able to sort into groups and eventually, subgroups.

In fact, you can see below that within Mom’s pink group, there is also the smaller cluster of Mary, Susie, me and Mom.

For Jeremy and Martha, we can’t do any more right now, so I’ve recorded what we do know and set them aside.

Here, you can see the matches sorted by chromosome, start and end segment.

It looks a lot different than where we started, shown below, when all we had was a list of people who matched each other with no additional information. We’ve added a lot!

In Summary – Creating the Zipper

So, where are we with this?

By utilizing all of the tools at your disposal, including the ICW tool, the Family Finder Matrix, your matching spreadsheet and your genealogical information, you’re in essence creating that zipper that divides half of your DNA into Mom’s side and Dad’s side. Then into grandma’s and grandpa’s side, and on up the pedigree chart.

Each of these tools can tell you something unique and important.

The ICW tool tells you who matches you and another person, in common. It doesn’t tell you if they also match each other. This tool can provide extremely important clustering information. For example, if I see unknown cousin Martha clustered with a whole group of known Estes descendants, then that’s a pretty good clue about how I’m related to Martha. If, on the other hand, I find Martha clustered with people from both sides of my family, well, my Mom and Dad just might be related to each other or their ancestors went to or came from the same places.

By utilizing the Matrix tool, I can tell which of my matches are actually matching each other too, so that puts Martha in a much smaller group, or maybe eliminates her from certain groups.

By then utilizing my downloaded match spreadsheet, on which I record every known tidbit of genealogy information, even generalities like, “family from NC” if that’s the best I can get, I can then see where Martha matches me and others on the same segments, and based on the information in the ICW and the Matrix and my genealogy info, I may be able to slot Martha into a family group. On a great day – I’ll be able to be more specific and tell her which family group – like we were able to do with my newly found cousin, Loujean.

So, I hope you’ve enjoyed learning how to install a chromosome zipper. Now you can happily go about unzipping all of that genealogy information held in your DNA, that piece by piece, we’re slowing revealing.

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Neuroarchaeologists Uncover Iberian Origin of Unusual Alzheimer’s Gene Mutation

Posted on December 13, 2013 by Roberta Estes

Neuroarchaeologists, a term I haven’t heard before, but one we’ll likely hear into the future. Genetics, neurology, genealogy, population genetics….they are all becoming intermixed today solving puzzles that are so complex that just a few years ago, there would have been no prayer of solving them at all.

Take early onset Alzheimers, for example. Keep in mind that this type of Alzheimer’s is only one of several, and much about this disease remains unknown, but for this particular kind of Alzheimer’s disease, this breakthrough is monumental, as is the fact that they can trace it to the Iberian peninsula in the 16^th century.

The history of our ancestors truly is in our genes.

This research was performed at the University of California at Santa Barbara and published this month in Alzheimer’s and Dementia, the Journal of the Alzheimer’s Association. Unfortunately, the academic article is behind a paywall.

Researchers tested more than 100 family members who have the disease. While many predictably showed onset signs of the disease as expected about age 45, some appeared to be protected by as much as a decade. The question was what was protecting these people and does that protective mechanism have relevance for the rest of the people afflicted by Alzheimer’s disease. The answer isn’t yet evident, and research continues, but the process they used to identify this mutation is fascinating.

The team worked with historians and genealogists and using records as old as 1540, managed to track this family, along with their mutation, to a single individual from the Iberian peninsula about the time that Spanish Conquistadors were colonizing Columbia in the early 1500s.

They may call this new field neuroarchaeology, but I think it’s more neurogenealogy, unless they’re excavating graves someplace. But I bet they think neuroarchaeology just sounds more scientific. So, want to get assistance with your genealogy….having a dread disease, or being a politician….either one will help immensely.

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Family Tree DNA’s Family Finder Match Matrix Released

Posted on December 10, 2013 by Roberta Estes

Wow, today is a great day in genetic genealogy-land. After the conference in Houston, which ended just a month ago today, a small group met with the Family Tree DNA team and explained what we, as users, need, and why. We walked through lots of scenarios and everyone did a lot of explaining. The whiteboard was full. We were hopeful.

Bennett made a commitment, publicly, at the conference, to do whatever it took. However, I never expected this feature, the Family Finder Match Matrix, which was very high on the priority list, to make it out the door this soon. Less than one month later. Hats off to the Family Tree DNA team! YOU ROCK!!!

Why is this so important? Because you have two halves to your chromosome, and there is no magic zipper to divide Mom’s half from Dad’s half. So you’re going to match with people who come from Mom’s side, Dad’s side, and some who just happen to match because of random recombination. The best way to figure this out is to see which of your matches match each other as well.

So, in a nutshell, here’s how this works.

If your matches match you, but not your other matches as revealed in the “In Common With” feature, they are questionable matches. To find who you match in common with one of your matches, use this crossover icon on your matches page:

If your matches match you and each other, then they are very likely important genealogical matches.
If your matches match you and each other, and you can identify the lineage based on which of your cousins or other family members they match, you’ve got a hugely valuable piece of information. I discussed this in yesterday’s article, Chromosome Mapping aka Ancestor Mapping.

Here’s the release today from Family Tree DNA. And even better news, they have promised to keep us apprised on new features to come ON A WEEKLY BASIS!!!

From Family Tree DNA:

Today, we are happy to release our new BETA Family Finder – Matrix page. The Matrix tool can tell you if two or more of your matches match each other. This is most useful when you discover matches with wholly or partly overlapping DNA segments on the Family Finder – Chromosome Browser page.

Due to privacy concerns, the suggested relationship of your two matches (if related) is not revealed. However, we can tell you whether they are related according to our Family Finder program. To use it, you select up to 10 names from the Match list on the left side of the page and add them to the Selected Matches list on the right side of the page. A grid will populate below the lists. It will indicate whether there is a match (a blue check mark) or there is not a match (an empty white tile).

You access the BETA Family Finder – Matrix page through the Family Finder menu in your myFTDNA account.

The page starts out with two list areas: Matches and Selected Matches. You add Matches to the Selected Matches list by clicking on a name and then on the Add button.

Here is a screenshot of the BETA Family Finder – Matches page with a few matches added to the Selected Matches list.

You can change the order of names in the matrix by clicking on a name and then either the Move Up or the Move Down button.

To remove someone from the Selected Matches list, click on their name and then the Remove button.

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Chromosome Mapping aka Ancestor Mapping

Posted on December 9, 2013 by Roberta Estes

This article really should be called “Identifying Prodigal Great-Grandpa by Ancestor Mapping Your Chromosomes,” because that’s what we’re going to be doing. It’s fun to map your ancestors to your chromosomes, but there is also a purpose and benefit to be derived. So you can have guilt-free fun because you’re being productive too! Oh, and yes, you can work on finding Prodigal Great-Grandpa.

I constantly receive questions similar to this:

“How can I find the identity of my mother’s mother’s father? My great-grandmother went to her grave with this secret. That’s one eighth of my ancestry. What can I do? How can I find out?”

The answer is that it’s not easy, but it is sometimes possible. Note the word sometimes. A good part of the definition of “sometimes” is how willing you are to do the requisite work and if you are lucky or not. Luck favors those who work hard. And let’s face it, you’ll never know if you don’t try. I mean, Prodigal Great-Grandpa is not going to text you from the other side with his name and date of birth.

What we’re going to do is basically work through a process of elimination. The term for what we are going to do is called chromosome mapping your ancestors or more simply, chromosome mapping or ancestor mapping. In essence, you are going to map your own chromosomes based on which ancestor contributed that part of your DNA.

I have simplified this process greatly in order to explain the concept in a way you can easily follow. I’m going to use my own pedigree chart as an example. We’ll pretend we don’t know the identity of Curtis Benjamin Lore. And yes, for those of you wondering, all of these people are deceased.

I realize that you are going to have more than the 32 autosomal matches shown on my example spreadsheet. You’re also not going to be able to find common ancestry with many of your matches due to things like dead ends, incorrect ancestry, segments identical by state (IBS) or DNA that comes from older ancestors that is not recognizable today after name changes in many generations when descended through females. There are lots of reasons why you might not be able to find genealogy matches. It’s the other matches, the ones where you can decipher and determine your common ancestor that help a great deal, and that is where we’ll focus. These are the ones that matter and the keys to identifying Prodigal Great-Grandpa.

In my example here, we live in a perfect world. We are looking to map the DNA of my 8 great-grandparents in order to figure out the identity of mother’s mother’s father. Of course, there is no Y-DNA to test in this instance, so we must rely on autosomal DNA. Ok, so maybe it’s not such a perfect world. In a perfect world, you’d be a male trying to find the identity of your father’s father’s father and you could test your own Y-DNA – but then we wouldn’t have a good story nor would we need autosomal DNA. And most people aren’t that fortunate.

Three generations isn’t that far back – or four – if you count yourself as the first generation. If you’re quite lucky, you can test one or both of your parents, and maybe even a grandparent or great-aunt or uncle. Failing that, you should be able to find some cousins from your various lines to test. This entire exercise will be much MUCH easier for you if you can test multiple people descended from each of the 4 couples involved because you’ll be able to tell which lines your matches do, and don’t, match based on which cousins they also match. Take DNA test kits to family reunions!

Obviously, you won’t be able to test anyone directly descended from your unknown great-grandfather, except perhaps his children. The more of his children you can test, either directly or through their children, if deceased, the better your chance of identifying your Prodigal Great-Grandfather because each child inherits some different DNA from their parents. In my case, we’re going to presume that there are no other known children, other than my grandmother. So how do we find Prodigal Great-Grandpa?

First, download all of your matches with corresponding segment data from your testing vendor, either 23andMe or Family Tree DNA, into a spreadsheet. Ancestry does not allow you to do this, which is a significant drawback in terms of testing at Ancestry. You can do this today at 23andMe and at Family Tree DNA most easily by utilizing www.dnagedcom.com download software. You can also do this directly at Family Tree DNA on the Chromosome Browser page.

Your spreadsheet will look something like this, but without the colors. That’s what you’ll be adding, along with the Common Ancestor column.

Step 1 – Identify a common ancestor with those individuals you match on common DNA segments. This is really two steps, the common ancestor part, and the common DNA segment part. If these people are on your match list, we already know you have a common DNA segment over the vendor’s match threshold. The presumption here is that if you have 3 people that match on the same segment from the same ancestor, that’s a confirmed “yes” that this particular DNA segment is descended from that ancestor. You can also label these with only two confirmed descendants from the same ancestor, but I like to see three to be sure, especially if here is any doubt whatsoever that you’re dealing with the same ancestral family. For example, if you are dealing with 2 people who carry the same surname from the same location, but you can’t quite find the common ancestor – you’ll need 3 matches to identify this segment.

In this case, I was able to test cousins so I know that on chromosome 1, Sue, Joe and John all match me on the same segment and they are all descended from Lazarus Estes. I know this because one of them descends from Lazarus Estes and his wife, Elizabeth Vannoy, but the other two, Joe and John descend from an Estes upstream of Lazarus, let’s say, his father, John Y. Estes, through another child, which allows me to positively identify this segment as coming not just from the couple, Lazarus Estes and Elizabeth Vannoy, but from Lazarus specifically.

I’ve colored this segment mustard to represent Lazarus and so that you can visually see the difference between the 8 ancestors we’re working with.

2. Repeat the same process with your other matches, hopefully utilizing cousins, to identify DNA segments of your other ancestors. I’m only showing a very small subset of all of my DNA on my spreadsheet, and all matches are the exact same 10,000 cM blocks and only on one chromosome, for illustration purposes, but as you work through your matches, you’ll be able to color more and more of your DNA and assign it to different ancestral couples. Each of your chromosomes will have different colors as different parts of each chromosome come from different ancestors.

Kitty Cooper released a tool to utilize AFTER you do this hard grunt-work part that paints a pretty picture of your ancestors mapped on to your various chromosomes. Here’s her example. Notice that each chromosome has 2 sides, Mom’s and Dad’s inheritance side. We’re going to use that to our advantage and it’s one facet of how we’re going to find Prodigal Great-Grandpa .

In my case (not this example), I have several segments that I can’t identify to a particular couple, but I can assign it to a group. This is my Acadian group and is terribly admixed because of extensive intermarriage. I also have a “Mennonite” segment labeled in the same way for the same reason. So while I don’t know specifically who, I do know where and that helps a lot too. But in our perfect world in our example, we don’t have any of that.

3. Now that I have most of my genome colored in and assigned to ancestors, except for Prodigal Great-Grandpa, I can see where all new matches fall. Let’s say I get a new match on chromosome 1 in the segments between 10,000 and 20,000 and they also match Sue, Joe and John. Even if the new match is an adoptee and has no genealogy, I can tell them which line they descend from. And let me tell you, there is no greater gift. This is exactly how we told new cousin Loujean she descended from the Younger line.

However, if someone matches me on this chromosome 1 segment but NOT Sue, Joe and John, since Sue,Joe, John and I all match on the entire segment from 10,000-20,000, then the new match has to be matching me on my other parent’s side (or is IBS – identical by state, a circumstantial match.) Never forget that you have two “sides” to each chromosome – Mom’s and Dad’s (except for the X chromosome in males which we are not addressing here.)

4. The only part of my match spreadsheet left uncolored, since this is a perfect world, would be the part that would probably come from my Prodigal Great-Grandfather. So let’s look at chromosome 8 and map it.

What we don’t know, and have to determine, is whether or not some of these parts of chromosome 8 really belong to ancestors identified in color above. However, remember that we are dealing with fairly close matches, only 3 generations, and in some cases, only 2 generations, depending on which cousins tested. So let’s say you found several cousins to test because grandma had a large family. Based on the test results of several of your aunts and uncles along with other people descended from great-grandma’s ancestral lines, you are able to map most of the DNA of your great-grandmother. In this case, we mapped this segment of chromosome 8 to my three cousins, Derrell, Darrell and Daryl. (Yes, I really do have those cousins.)

The result is that now I have 8 matches that do match me, and based on other cousin matches, do descend from Great-Grandma/Great-Grandpa but don’t match the Derrell trio indicating Great-Grandma’s line. What this tells me is that the people who aren’t assigned, because they don’t match my cousins Derrell, Daryl and Darrel, or any other distant groups, must then be from Prodigal Great-Grandpa’s side or are “problem matches.” Problem matches are those that are IBS (Identical by State) or have a technical issue and we’re not going to deal with that here, because this is a perfect world and we’re only concerned with people whose genealogy we have and that match each other. By this definition, problem matches are automatically eliminated. So let’s look at the 8 people above who don’t match me or the Derrell cousins on Great-Grandma’s/Great-Grandpa’s side, beginning with Bobbi and ending with Isabel.

5. Now we turn to genealogy. We know that these 8 people all share a common ancestral line with Prodigal Great-Grandpa, we just don’t know who that is. Let’s say that of this group, we discover that Bobbi, Harold and Buster are all related to each other, and glory be, they all know who their common ancestor is, or at least the common ancestral line. Let’s say that Bobbi and Buster are first cousins in the Lore line and that Harold matches them closely as well, but he is descended from a Lore ancestor further upstream from Bobbi and Buster. Therefore, we can now say, positively, that Prodigal Great-Grandpa descended somehow from the Lore line.

We still don’t know how Sarah, Ronald, Garret, Nina and Isabel connect to Prodigal Great-Grandpa, and that’s OK. We can simply leave them uncolored for now. We can select a color for Bobbi, Harold and Buster and assign then to Prodigal Great-Grandpa who descends from the Lore line.

6. Now it’s time for that luck to kick in. We don’t know that Prodigal Great-Grandpa carried the surname Lore. His mother could have been a Lore, or any of his ancestors. All we have is a common surname and a common ancestor between three people who all match me on the same segment. So, let’s assemble a tree of our cousins to see if we can narrow the scope of maybe who and where and then let’s get busy with the census and other records. Geography is important. Begatting requires proximity and many times, we can find the begatter in the neighborhood. Also, check your genealogy software data base for this surname. You may find the surname in an allied line. Remember, families married their neighbors and often intermarried as well.

Sure enough, look there, in our perfect world, we discover that Nora Kirsch is working in her parents inn named the Kirsch House on the Ohio River in 1880. The Kirsch House was also a boarding house, and a restaurant and pub. One of their boarders in 1880 was none other than Benjamin Lore. Hmmm. Surely makes you wonder. Further research on Benjamin Lore shows that he was a wildcat oilfield well driller working in the county where Nora lived and became something of a local legend for discovering the “Blue Lick” water well. Well, now we have a name, proximity and maybe an opportunity.

7. Well, peachy, but what next? Further research on Benjamin Lore shows that he was married in the census, but where was his wife? In previous census records, we find Benjamin Lore in Warren County, PA with his parents. In the Warren County records, we find that he married Mary Bills, and additional research shows in 1880 a Mary Lore with 2 children, but no husband. Court records show they later divorced, with 4 children. Find those children!!! They are the key to confirming the identity of Benjamin Lore as Prodigal Great-Grandpa. If Benjamin’s other children had children about the same time as grandmother, each line should have 3 generations between Benjamin and the current generation. Benjamin’s great-grandchildren through his first wife would be half-second cousins to me which would be the same as second cousins once removed. They of course would be a generation closer to my mother whose DNA I also happen to have.

ISOGG has a wonderful Autosomal DNA Statistics page, and here you can see that second cousins once removed would share about 1.5% of their DNA in what is hopefully a large enough segment to match some of the cousins that have already tested. My mother’s generation, first cousins once removed would share approximately 6.25%.

Benjamin’s descendants through his first wife may not match all of my cousins, but they will, hopefully, match some of the descendants of Prodigal Great-Grandpa, confirming, as best we can, that Benjamin Lore was grandmother’s father. The best litmus test of course is how closely they would match the closest generations, like mother or great-aunts/uncles, if they were living.

Full Disclosure Note: I used my own ancestors for purposes of illustration, even though Curtis Benjamin Lore (shown at right) was not prodigal in quite the way I portrayed in this article, well, at least not from my family’s perspective. However, he was no saint either and he may well have other descendants looking for him in this exact situation. Aside from what we do know, there is the rumor of an illegitimate son showing up on his widow’s doorstep looking for him, albeit, a little too late. We know that Curtis Benjamin (known as C.B.) Lore did marry Nora Kirsch in Dearborn County, Indiana, in 1888. These photos are their “wedding photos” but interestingly, there is no photo of them together.

We also know that Curtis Benjamin Lore married Mary Bills in Warren County, PA., had four Lore children, 3 males (Sid, John Curtis and Herbert Judson Lore) and one female (Maud who married a Hendrickson), none of whom we have never been able to find. Also, Curtis Benjamin Lore was not divorced from Mary until, ahem, after he was married to Nora Kirsch when Mary filed for divorce on the grounds of desertion.

Apparently, his marriage to Nora Kirsch (pictured at right) fell, literally, according to the secret family story, into the “shotgun” category, so one has to understand that his choice of marriage versus death was fairly defensible. I’m sure Nora’s father, a crusty old Civil War veteran, had no idea that he was already married or Curtis Benjamin would have been on the business end of that shotgun and marriage would not have been a choice.

The family took great care that this “uncomfortable” shotgun marriage situation never be discovered, to the point of falsifying the marriage date in the family Bible and also by “adjusting” the birth of the child by a year, also recorded incorrectly in the family Bible. Were it not for the fact that I checked the church records in Dearborn County, I would never have discovered the discrepancy. A child cannot be baptized months before it is born. I might note that it was only AFTER this discovery that my mother was forthcoming with the “family secret” about the shotgun wedding. Birth certificates were not issued at that time and my grandmother’s delayed birth certificate was issued based on the falsified family Bible information.

Benjamin probably would not have been bothered by this revelation at all, given what we know about him, but I’m sure Nora’s parents rolled over in their grave once or twice when I made the discovery and now that I’m, ugh, discussing it, and publicly at that.

Rogues and handsome scoundrels. They are colorful and interesting aren’t they and provide a great amount of spice for family stories. Hopefully these tools will help you find yours!!!

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Native American Gene Flow – Europe?, Asia and the Americas

Posted on November 22, 2013 by Roberta Estes

Pre-release information from the paper, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” which included results and analysis of DNA sequencing of 24,000 year old skeletal remains of a 4 year old Siberian boy caused quite a stir. Unfortunately, it was also misconstrued and incorrectly extrapolated in some articles. Some people misunderstood, either unintentionally or intentionally, and suggested that people with haplogroups U and R are Native American. That is not what either the prerelease or the paper itself says. Not only is that information and interpretation incorrect, the paper itself with the detailed information wasn’t published until November 20^th, in Nature.

The paper is currently behind a paywall, so I’m going to discuss parts of it here, along with some additional information from other sources. To help with geography, the following google map shows the following locations: A=the Altai Republic, in Russia, B=Mal’ta, the location of the 24,000 year old skeletal remains and C=Lake Baikal, the region from where the Native American population originated in Asia.

Nature did publish an article preview. That information is in bold, italics and I will be commenting in nonbold, nonitalics.

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians^{1, 2, 3}, there is no consensus with regard to which specific Old World populations they are closest to^{4, 5, 6, 7, 8}. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal’ta in south-central Siberia⁹, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date.

Within the paper, the authors also compare the MA-1 sequence to that of another 40,000 year old individual from Tianyuan Cave, China whose genome has been partially sequenced. This Chinese individual has been shown to be ancestral to both modern-day Asians and Native Americans. This comparison was particularly useful, because it showed that MA-1 is not closely related to the Tianyuan Cave individual, and is more closely related to Native Americans. This means that MA-1’s line and Tianyuan Cave’s line had not yet met and admixed into the population that would become the Native Americans. That occurred sometime later than 24,000 years ago and probably before crossing Beringia into North America sometime between about 18,000 and 20,000 years ago.

The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers^{10, 11, 12}, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages⁵.

The paper goes on to say that MA-1 is a member of mitochondrial (maternal) haplogroup U, very near the base of that haplogroup, but without affiliation to any known subclade, implying either that the subclade is rare or extinct in modern populations. In other words, this particular line of haplogroup U has NOT been found in any population, anyplace. According to the landmark paper, “A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA Tree from its Root,” by Behar et al, 2012, haplogroup U itself was born about 46,500 years ago (plus or minus 3.200 years) and today has 9 major subclades (plus haplogroup K) and about 300 branching clades from those 9 subclades, excluding haplogroup K.

The map below, from the supplemental material included with the paper shows the distribution of haplogroup U, the black dots showing locations of haplogroup U comparison DNA.

In a recent paper, “Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity” by Brandt et al (including the National Geographic Consortium) released in October 2013, the authors report that in the 198 ancient DNA samples collected from 25 German sites and compared to almost 68,000 current results, all of the ancient Hunter-Gatherer cultural results were haplogroup U, U4, U5 and U8. No other haplogroups were represented. In addition, those haplogroups disappeared from the region entirely with the advent of farming, shown on the chart below.

So, if someone who carries haplogroup U wants to say that they are distantly related to MA-1 who lived 24,000 years ago who was also related to their common ancestor who lived sometime prior to that, between 24,000 and 50,000 years ago, probably someplace between the Middle East where U was born, Mal’ta, Siberia and Western Europe, they would be correct. They are also distantly related to every other person in the world who carries haplogroup U, and many much more closely that MA-1 whose mitochondrial DNA line is either rare as chicken’s teeth (i.e. never found) or has gone extinct.

Let me be very clear about this, there is no evidence, none, that mitochondrial haplogroup U is found in the Native American population today that is NOT a result of post-contact admixture. In other words, in the burials that have been DNA tested, there is not one example in either North or South America of a burial carrying mitochondrial haplogroup U, or for that matter, male Y haplogroup R. Native American haplogroups found in the Americas remain subsets of mitochondrial haplogroups A, B, C, D and X and Y DNA haplogroups C and Q. Mitochondrial haplogroup M has potentially been found in one Canadian burial. No other haplogroups have been found. Until pre-contact remains are found with base haplogroups other than the ones listed above, no one can ethically claim that other haplogroups are of Native American origin. Finding any haplogroup in a contemporary Native population does not mean that it was originally Native, or that it should be counted as such. Admixture and adoption have been commonplace since Europeans first set foot on the soil of the Americas.

Now let’s talk about the Y DNA of MA-1.

The authors state that MA-1’s results are found very near the base of haplogroup R. They note that the sister lineage of haplogroup R, haplogroup Q, is the most common haplogroup in Native Americans and that the closest Eurasian Q results to Native Americans come from the Altai region.

The testing of the MA-1 Y chromosome was much more extensive than the typical STR genealogy tests taken by consumers today. MA-1’s Y chromosome was sequenced at 5.8 million base pairs at a coverage of 1.5X.

The resulting haplotree is shown below, again from the supplementary material.

The current haplogroup distribution range for haplogroup R is shown below, again with comparison points as black dots.

The current distribution range for Eurasian haplogroup Q is shown on the map below. Haplogroup Q is the most common haplogroup in Native Americans.

Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians^{2, 13}.

Kennewick Man is probably the most famous of the skeletal remains that don’t neatly fit into their preconceived box. Kennewick man was discovered on the bank of the Columbia River in Kennewick, Washington in 1996 and is believed to be from 7300 to 7600 years old. His anatomical features were quite different from today’s Native Americans and his relationship to ancient people is unknown. An initial evaluation and a 2010 reevaluation of Kennewick Man let to the conclusion by Doug Owsley, a forensic anthropologist, that Kennewick Man most closely resembles the Ainu people of Japan who themselves are a bit of an enigma, appearing much more Caucasoid than Asian. Unfortunately, DNA sequencing of Kennewick Man originally was ussuccessful and now, due to ongoing legal issues, more technologically advanced DNA testing has not been allowed. Nova sponsored a facial reconstruction of Kennewick Man which you can see here.

Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago¹⁴, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

In addition to the sequencing they set forth above, the authors compared the phenotype information obtainable from MA-1 to the Tyrolean Iceman, typically called Otzi. You can see Otzi’s facial reconstruction along with more information here. This is particularly interesting in light of the pigmentation change from darker skin in Africa to lighter skin in Eurasia, and the question of when this appearance change occurred. MA-1 shows a genetic affinity with the contemporary people of northern Europe, the population today with the highest frequency of light pigmentation phenotypes. The authors compared the DNA of MA-1 with a set of 124 SNPs identified in 2001 by Cerquira as informative on skin, hair and eye pigmentation color, although they also caution that this method has limited prediction accuracy. Given that, they say that MA-1 had dark hair, skin and eyes, but they were not able to sequence the full set of SNPs. MA-1 also had the SNP value associated with a high risk of male pattern baldness, a trait seldom found in Native American people and was not lactose tolerant, a trait found in western Eurasians. MA-1 also does not carry the mutation associated with hair thickness and shovel shaped incisors in Asians.

The chart below from the supplemental material shows the comparison with MA-1 and the Tyrolean Iceman.

The Tarim Mummies, found in the Tarim Basin in present-day Xinjiang, China are another example of remains that seem out of place. The earliest Tarim mummies, found at Qäwrighul and dated to 1800 BCE, are of a Europoid physical type whose closest affiliation is to the Bronze Age populations of southern Siberia, Kazakhstan, Central Asia, and the Lower Volga.

The cemetery at Yanbulaq contained 29 mummies which date from 1100–500 BCE, 21 of which are Mongoloid—the earliest Mongoloid mummies found in the Tarim Basin—and eight of which are of the same Europoid physical type found at Qäwrighul.

Notable mummies are the tall, red-haired “Chärchän man” or the “Ur-David” (1000 BCE); his son (1000 BCE), a small 1-year-old baby with brown hair protruding from under a red and blue felt cap, with two stones positioned over its eyes; the “Hami Mummy” (c. 1400–800 BCE), a “red-headed beauty” found in Qizilchoqa; and the “Witches of Subeshi” (4th or 3rd century BCE), who wore 2-foot-long (0.61 m) black felt conical hats with a flat brim. Also found at Subeshi was a man with traces of a surgical operation on his neck; the incision is sewn up with sutures made of horsehair.

Their costumes, and especially textiles, may indicate a common origin with Indo-European neolithic clothing techniques or a common low-level textile technology. Chärchän man wore a red twill tunic and tartan leggings. Textile expert Elizabeth Wayland Barber, who examined the tartan-style cloth, discusses similarities between it and fragments recovered from salt mines associated with the Hallstatt culture.

DNA testing revealed that the maternal lineages were predominantly East Eurasian haplogroup C with smaller numbers of H and K, while the paternal lines were all R1a1a. The geographic location of where this admixing took place is unknown, although south Siberia is likely. You can view some photographs of the mummies here.

In closing, the authors of the MA-1 paper state that the study has four important implications.

First, we find evidence that contemporary Native Americans and western Eurasians shareancestry through gene flow from a Siberian Upper Palaeolithic population into First Americans.

Second, our findings may provide an explanation for the presence of mtDNA haplogroup X in Native Americans, which is related to western Eurasians but not found in east Asian populations.

Third, such an easterly presence in Asia of a population related to contemporary western Eurasians provides a possibility that non-east Asian cranial characteristics of the First Americans derived from the Old World via migration through Beringia, rather than by a trans-Atlantic voyage from Iberia as proposed by the Solutrean hypothesis.

Fourth, the presence of an ancient western Eurasian genomic signature in the Baikal area before and after the LGM suggests that parts of south-central Siberia were occupied by humans throughout the coldest stages of the last ice age.

The times, they are a changin’.

Dr. Michael Hammer’s presentation at the 9^th Annual International Conference on Genetic Genealogy may shed some light on all of this seeming confusing and somewhat conflicting information.

The graphic below shows the Y haplogroup base tree as documented by van Oven.

You can see, in the lower right corner, that Y haplogroup K (not to be confused with mtDNA haplogroup K discussed in conjunction with mtDNA haplogroup U) was the parent of haplogroup P which is the parent of both haplogroups Q and R.

It has always been believed that haplogroup R made its way into Europe before the arrival of Neolithic farmers about 10,000 years ago. However, that conclusion has been called into question, also by the use of Ancient DNA results. You can view additional information about Hammer’s presentation here, but in a nutshell, he said that there is no early evidence in burials, at all, for haplogroup R being in Europe at an early age. In about 40 burials from several location, haplogroup R has never been found. If it were present, especially in the numbers expected given that it represents more than half of the haplogroups of the men of Europe today, it should be represented in these burials, but it is not. Hammer concludes that evidence supports a recent spread of haplogroup R into Europe about 5000 years ago. Where was haplogroup R before spreading into Europe? In Asia.

It appears that haplogroup K diversified in Southeast Asian, giving birth to haplogroups P, Q and R. Dr. Hammer said that this new information, combined with new cluster information and newly discovered SNP information over the past two years requires that haplogroup K be significantly revised. Between the revision of haplogroup K, the parent of both haplogroup R, previously believed to be European, and haplogroup Q, known to be Asian, European and Native, we may be in for a paradigm shift in terms of what we know about ancient migrations and who is whom. This path for haplogroup R into Europe really shouldn’t be surprising. It’s the exact same distribution as haplogroup Q, except haplogroup Q is much less frequently found in Europe than haplogroup R.

What Can We Say About MA-1?

In essence, we can’t label MA-1 as paternally European because of Y haplogroup R which now looks to have had an Asian genesis and was not known to have been in Europe 24,000 years ago, only arriving about 5,000 years ago. We can’t label haplogroup R as Native American, because it has never been found in a pre-Columbian New World burial.

We can say that mitochondrial haplogroup U is found in Europe in Hunter-Gatherer groups six thousand years ago (R was not) but we really don’t know if haplogroup U was in Europe 24,000 years ago. We cannot label haplogroup U as Native because it has never been found in a pre-Columbian New World burial.

We can determine that MA-1 did have ancestors who eventually became European due to autosomal analysis, but we don’t know that those people lived in what is now Europe 24,000 years ago. So the migration might have been into Europe, not out of Europe. MA-1, his ancestors and descendants, may have lived in Asia and subsequently settled in Europe or lived someplace inbetween. We can determine that MA-1’s line of people eventually admixed with people from East Asia, probably in Siberia, and became today’s First People of North and South America.

We can say that MA-1 appears to have been about 30% what is today Western Eurasian and that he is closely related to modern day Native Americans, but not eastern Asians. The authors estimate that between 14% and 38% of Native American ancestry comes from MA-1’s ancient population.

Whoever thought we could learn so much from a 4 year old?

For anyone seriously interested in Native American population genetics, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” is a must read.

It’s been a great month for ancient DNA. Additional recent articles which pertain to this topic include:

http://www.nytimes.com/2013/11/21/science/two-surprises-in-dna-of-boy-found-buried-in-siberia.html?src=me&ref=general&_r=0

http://www.sciencedaily.com/releases/2013/11/131120143631.htm

http://dienekes.blogspot.com/2013/11/ancient-dna-from-upper-paleolithic-lake.html

http://blogs.discovermagazine.com/gnxp/2013/11/long-first-age-mankind/#.Uo0eOcSkrIU

http://cruwys.blogspot.com/2013/11/day-1-at-royal-societys-2013-ancient.html

http://cruwys.blogspot.co.uk/2013/11/day-2-at-royal-societys-2013-ancient.html

http://www.sciencedaily.com/releases/2013/11/131118081251.htm

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Be Still my H(e)art…

Posted on November 18, 2013 by Roberta Estes

You’re not going to believe this. I’m not sure I believe it.

Remember, I closed my article on the Younger family yesterday by saying that I was hopeful that I might solve the mystery of who Marcus Younger’s wife, Susanna, was? Well, I said that, but I had no real expectation that it would really happen, not after one already huge breakthrough. I began working through cousin Larry’s matches, sending e-mails, and within six hours or so, I had several replies, one of which was this:

“Hello my name is Andrea. Thank you for sending me this email. I am new to genealogy and have a large interest in my family history. Younger is not a known surname for me, although Hart is. My oldest known Hart ancestor is Anthony Hart born in Oct 1755 in King and Queen, Virginia. He was my 5th great grandfather. He lived in Halifax Virginia in 1840 with his children and grandchildren. How is the surname Hart related to Younger?”

Oh Andrea, let me tell you. You have made my day, my decade, my 30 years, and yes, indeed, this is the second jackpot hit in two days in the same family line. I shoulda bought a lottery ticket but I think I’d rather have this:)

It has always been speculated that Marcus Younger’s wife, Susanna, was a Hart. In fact, it was speculated that she was the possible sister of that one and the same Anthony Hart in Halifax County, Virginia, based on this tax record from King and Queen County, Va. just before Marcus Younger moved to Halifax County. Robert Hart is believed to be Anthony’s father, but that is unproven.

1785

Alterations of land in King and Queen County

Proprietor’s Name QT Land of whom had

Anthony Hart 190a Robert Hart

Anthony Hart 94a Marcus Younger

There are a couple of other records in which they appear together too.

Unfortunately, King and Queen County is a burned county.

Now, we have a couple of pretzel twists that need to be considered. In Larry’s line, Marcus’s son John married Lucy Hart who is mentioned in Anthony Hart’s Revolutionary War pension application in 1832. So Larry could be expected to match Andrea regardless of who Marcus’s wife was.

However, I don’t descend from the same line as Larry and Andrea matches me as well. I descend from Marcus through his daughter, Mary, sister to John who married Lucy Hart. So, I should NOT match Andrea unless I too carry some Hart DNA. But I do, in two distinct places where I also match Larry. On the chromosome browser below, Andrea is orange, I am blue and we are being compared to Larry. You can see that we all 3 match on the same segments on chromosomes 1 and 8.

Additionally, Andrea matches other cousins descended from my Younger line.

Furthermore, Andrea and David (from the previous article whose pedigree proved that Marcus and Thomas Younger are related) both match Lawson, but they don’t match each other. This makes perfect sense. David descends from Thomas Younger, who has no known Hart connection. So David matches Larry because of the Younger line and Andrea matches Larry because of the Hart line.

You can see in the chromosome browser view below that indeed, both Andrea, orange, and David, blue match Larry, but in no location do they match each other in addition to matching Larry. No place does their DNA show one under the other, overlapping, when compared to Larry.

Turning now to the spreadsheet where I can see all of the people who match both Larry and David together, I want to know who else Andrea matches.

First, I confirmed that Andrea does not match anyone else from the Alexander Younger line through sons Thomas and James, and she does not. If she had, that would put a very big fly in the ointment and would prevent any conclusion about Marcus’s wife. But since she doesn’t, that obstacle is removed.

Andrea does match the following people on several segments:

Me
Loujean, our newly found adoptee cousin whose closest autosomal match is Larry
Larry
Buster, my cousin, who also descends through Marcus’s daughter, Mary

We are all four descended from the Marcus line and she doesn’t match anyone who descends from the Thomas or Alexander lines, which makes perfect sense since Anthony Hart looks to be the probable brother of Marcus Younger’s wife, Susannah, based on the historical records and some relationship is now confirmed by the DNA.

Am I ready to call this a positive match yet and Susannah a Hart? Technically, I probably could, but I’m rather conservative and I’m just not quite ready to give an unconditional thumbs up. To make myself feel entirely warm and fuzzy, I’d love to see another Hart match for me or my cousins not descended through John’s line. I’d also love to be able to reconstruct the Hart family back in Queen and King and Essex Counties and have some additional paper document to go along with the results. That would certainly be easier to accomplish were the Queen and King records not burned. This family lived on the border between the two and had records in both counties.

Truly, I’m left speechless about my good fortune this weekend. I’m happy dancing a hole in the floor.

But I’m also left wondering how many other answers are really there, in the DNA of the people we match and I just haven’t worked with the matches effectively. Maybe those walls are just waiting to fall….waiting for me to notice them. Maybe yours are too.

Update: Please note that as of August 2019, this connection is still not proven. Still hoping!

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Proving Men Whose Y-Lines Don’t Match Are Related

Posted on November 17, 2013 by Roberta Estes

The old “Younger Store” in Halifax County, Virginia

BINGO – BINGO

Yes, I’m shouting. This is a 30 year BINGO – a wall that DNA just tore down!!! WOOHOO

Good thing you can’t see my happy dance. I wouldn’t care right this moment, but I’m POSITIVE I’d be embarrassed later.

Ok, so taking deep breath here – here’s the story.

The Younger Men

I descend from Marcus Younger of Halifax County, Virginia, through his daughter Mary who married George Estes in 1786. Marcus was born probably somewhat before 1740 in either Essex County, Virginia. Our first positive record of him is in 1780 when he gave to the Revolutionary War cause “1 gallon, 2 quarts and 1/2 pint brandy.” We don’t know who Marcus’s wife was, but she may have been a Hart or a Ferguson. Marcus moved to Halifax County, Virginia shortly after the war and subsequently died there in 1815 with a will listing his children. There were also subsequent chancery suits relating to his estate, thankfully, that reveal a great amount of information about his children and their lives. Marcus had only one son, John, born in 1760. Mary was probably his second child as her husband, George Estes, was born in 1761.

Also living in close proximity to Marcus Younger in Essex County, near the border with Queen and King, was Thomas Younger who was significantly older than Marcus, but was not his father. Thomas appears in deeds in Essex County, Virginia in the 1740s, but was in King and Queen County in 1752. Thomas moved to Halifax County by 1765 when he is found on a tax list and died there in 1791, with a will that was witnessed by both Marcus Younger and Marcus’s son John. This alone suggests strongly that Marcus was not the son of Thomas because heirs generally did not witness wills unless they were nuncupative wills taken orally just before the person died, and Thomas’s was not. Furthermore, there were chancery suits following both Thomas and Marcus’s deaths that tell us exactly who their heirs were. This will-witnessing also suggests an extremely close relationship between Thomas Younger and Marcus Younger. But what, exactly, was that relationship?

Thomas’s parents were Alexander Younger and Rebecca Mills. Alexander died in Essex County in 1727, with a will. He had three sons, Thomas, above, James who married a Nash and is well accounted for, and a John who died between 1725 and 1727 when Alexander’s estate is settled. Almost nothing is known about John. In addition, there were 5 sisters, only two of which are even somewhat accounted for beyond 1732 or as adults. This indeed may be a very important clue to the Marcus puzzle.

Who’s Your Daddy?

Descendants of Thomas Younger and of Marcus Younger both took the Y DNA test some years ago, and we were absolutely stunned to discover that their Y DNA did not match. We have two descendants of John, only son of Marcus, and they do match each other, but no other Youngers.

The several descendants of Thomas Younger match each other and also the descendants of Alexander’s other son, James. So Marcus seems to be related to the family, carries the surname, but does not share a direct paternal ancestor on his father’s side.

Our candidates for his parents are quite limited.

Barring a totally unknown Younger person, we have the following candidates.

John Younger, son of Alexander, brother to Thomas – but that would also mean that John was not the biological son of Alexander but did share a mother since Marcus’s descendants autosomally match this line today. Since Alexander’s estate paid to register the death of John, that implies that John was not yet married at the time of his death and responsible for himself. This pretty much eliminates John.

The other alternative is that Marcus is the illegitimate child of one of Alexander’s daughters. His daughters were named Ann, Mary, Janet, Susannah and Elizabeth. Unfortunately, three of those names are repeated in Marcus’s daughters, but it could effectively eliminate Janet and Ann, unless Marcus had a child with that name that died young and he did not reuse the name as so many people did at that time. As it turns out, Ann and Janet married about 1732, but we have no information on the other 3 daughters other than they were minors at their father’s death in 1727 and Thomas was appointed their legal guardian in 1732.

This scenario, that Marcus was the child of one of Alexander’s daughters would fit what we do know about this family both genetically and genealogically.

The DNA Jackpot

This brings us to today. And what a day it is. Until now, none of the descendants of Marcus Younger autosomally matched the descendants of Thomas Younger, at least not that we could prove.

I manage the kit of one of the descendants of John Younger, Marcus’s son, we’ll call him Larry.

I received a query from someone about matching Larry autosomally. I sent the note that I always do, with some basic genealogy info. What I received back was a pedigree chart screen shot from the match, who we’ll call David, that included Thomas Younger as his ancestor. He descended from Thomas via a daughter.

Once again, I was stunned, because here was the link we had sought for so many years…a genetic bond between Thomas and Marcus.

Of course, the first thing I did was to ask about other lines as well through which Larry and David might be related. There were none.

Then I turned to DNA. On the Family Tree DNA match list, Larry matches me and Larry matches David, but David is not on my match list. This could well be because we don’t have any segment matches above the match threshold of approximately 7.7cM at Family Tree DNA, but since we both match Larry, I could look at Larry’s matches and then drop the comparison level to below the matching threshold to see all of our common matches between the three of us.

Here are our default 5cM matches.

I am orange. David is blue. Larry is who we are being compared against.

Dropping the cM level to 1 shows us that golden nugget we have searched for so diligently.

Look at chromosome 1. All 3 of us match on a small segment of DNA. That DNA is Younger DNA. And that little orange and blue segment proves that indeed, Marcus and Thomas were related.

This also means that there will be others who fall into this “too small to be a match but hugely relevant small segment” scenario. In order to take a look, I triangulated all of the matches for my cousin Larry and David, and there were a total of 15 individuals.

But here’s the amazing part.

There are 16 people in total, including Larry and David who match.

I compared them in the chromosome browser, and downloaded all of them. I then sorted them by chromosome and start/end segment. Here is that oh so beautiful “proof” match on chromosome 1.

There are a total of 191 individual segments across all chromosomes where these people match Larry.

Of those 191 segments, there are also 94 segments on which one or more of us also match each other. Those are shaded green above for chromosome 1.

Of those 94 segments, only 8 were large enough to be above the matching threshold. That means that there were a total of 86 segments that were below the matching threshold but that were useful genealogically. On chromosome 1 above, only Larry and I would have been over that threshold, and we were already shown as matches.

Looking at those 8 large segment matches, some were between known relatives on both sides, like me and Larry on chromosome 1, but until there was someone who connected the dots and matched someone on both sides, like David, on a segment large enough to be counted as a match, the connection wasn’t there and the other matches weren’t meaningful to the question and answer of whether Marcus and Thomas were related.

David matches Larry on a large enough segment to be counted as a match on chromosomes 4 and 10, neither of which is a match to me in that location.

The golden “proof” egg, in this case, for the three of us, was hidden in a very small segment on chromosome 1 that would otherwise have gone entirely unnoticed and unreported because it was not over the match threshold.

What’s next, you ask? I’m sending e-mails to all 15 people, of course, asking how they connect to the Younger family. Maybe, just maybe, I’ll be doubly lucky today and one of them will descend from one of the unknown wives families. We have a couple of those surnames that are theorized but unproven. That would be like hitting the lottery twice in one day!

This story already has a most wonderful PS. The genealogy Gods are at work.

As soon as I finished composing this article, I had an e-mail from a match to Larry. This lady is actually his closest match, but was not in the triangulation group I had been working with. She told me that she is an adoptee and that she was seeking information. On the off chance that she might fit into the group I had been working with, I downloaded her segments too and added it to the spreadsheet. Not only does she fit in the group, she also matches me as well and other proven Younger descendants. not on chromosome 1, but on 3 other common locations.

She matches Larry most closely, so she likely descends from John Younger’s line through Larry’s ancestor. I sent this woman some photos of the Younger descendants in my line, and she replied saying this is the first actual biological family line she has ever found. She started actively looking in 1994 when she applied for her redacted adoption information and received a razored out paper that was full of holes and looked like Swiss cheese. I can only imagine how she must have felt.

So, of course, I did what any other insanely addicted genealogist would have done. I stayed up half the night, literally, putting together all of my “notes” in some semblance of order so she can see her family line, photos of my trip to fine the Marcus Younger cemetery, etc. I asked her how she feels, and she said she is very excited and it’s also a tad bit scarry. Yes, I imagine so…knowing you’re related to a crazy genealogist. But you know, I bet she’s doing her happy dance too.

Note: Photo of Younger Store taken by Brownie Mackie in 2002 in Halifax County, Va.

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2013 Family Tree DNA Conference Day 2

Posted on November 12, 2013 by Roberta Estes

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning. I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well. It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA. “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.” Smart woman, and thankfully for us, he went. But he had a roadblock. He felt there was a possibility that he could use the Y chromosome to solve the roadblock. Bennett called the author of one of the two papers published at that time, Michael Hammer. He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport. He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done. Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.” Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.” Let’s just say Bennett was no longer unemployed and the rest, as they say, is history. With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences. He says he doesn’t think we’re crazy. I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy. But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something. He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density. People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion. They did find that most basic structure of R tree did come from the near east. They looked at P311 as marker for expansion into Europe, wherever it was. Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time. However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture. If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature. There were 4 primary locations with skeletal remains. There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago. This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men? What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

U106 is clustered in Germany
L21 clustered in the British Isles
U152 has an Alps epicenter

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe. If you are shaking your head right about now and saying “huh?”…so were we.

Here is Dr. Hammer’s revised map of haplogroup dispersion.

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21. For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs. The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps. She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate. The administrator’s role has also changed on social media as opposed to just a FTDNA project admin. Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members. They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.” He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15. He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster. With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern. They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree. Tools don’t matter if the data isn’t there. In order to utilize the genealogy aspect, the genealogy info needs to be there. Will be enhancing the GEDCOM viewer. New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available. This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA. They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing. Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness. This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

Commitment to take genetic genealogy to the next level
Y draft tree
Constant updates to official tree
Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree. This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree? When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement. For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing. One child may inherit as little as 20% of the X and another 90%. Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1. Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done. New things will be rolling out in first and second quarter of next year.” Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

CLIA
CAP
AABB
NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time. This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013. Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now. Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013. Their target audience was twofold, genetic genealogy in general and also the Irish people. They posted things periodically to keep people interested. They also created a Facebook page. They announced free (sponsored) DNA tests and the traffic increased a great deal. Today ISOGG has a free DNA wiki page too. They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days. It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views. Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test. That’s his minute or two of fame! I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published. It’s free, open access, web based and the author retains the copyright.. www.surnamedna.com

Conceived in 2012, the first article was published in January 2013. Three papers published to date.

Encourage administrators to write and publish their research. This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive. Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important. It is a critical review, a keen eye and an encouraging tone. This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person. We discussed how to effectively use mtdna results and what they really mean. And you just never know what you’re going to discover. Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line. WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments. As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks. We took a few more photos with our friends and left looking forward to next year’s conference. Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike. Front row, left to right, me and Bennett Greenspan.

See y’all next year!!!

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2013 Family Tree DNA Conference Day 1

Posted on November 11, 2013 by Roberta Estes

This article is probably less polished than my normal articles. I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write. So you’re getting a spruced up version of my notes. There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do. Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry. Max thought about this and said, really, not. Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10^th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years. The list included about 20 or so early adopters. They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators. A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved. When Max noted the admins who were leaders and are no longer with us, he could barely speak. There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming. Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time. Her list of degrees would take a page or so. She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card. Then two months ago, Amy wound up sitting next to Max on another airplane. It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers. You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy? How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here. There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013. I blogged about this at the time.

She spoke a bit about the history of this issue.

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA? This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together. Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor. Is this a good thing or a bad thing? Some feel that it’s unethical and an invasion of the privacy of the father. But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved. DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely. Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907. These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation. “Three generations of imbeciles is enough.” I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names. The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived. Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options. 53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release. She notes that these were highly motivated people enrolled in a clinical study. Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant. Most people said they would participate if they were simply asked. So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this. I know several people who refused to participate in a research study because their results would not be returned to them personally. All they wanted was information and to be treated respectfully.

What the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well. What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status. It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA. He has two children. How does this affect his children? Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information. Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”. Henrietta Lacks was a poor African-American woman with ovarian cancer. At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research. She was never informed or released anything, but then they were following the protocols of the time. From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished. The genome was eventually fully sequenced and published. Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family? And how does or should this affect policy?

How does this affect genetic genealogy? Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics? Should you have to talk to family members before anyone DNA tests? Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy? How about when the original tester dies? Who has what rights and interests? What about the unborn? What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components. Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over. However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test. Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved. However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well. This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents. Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project. More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years. More than 360 ancient samples were collected across several different time periods. There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially. That’s for sure. “We are reshaping the tree in an enormous way.” What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year. The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree. Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.” This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging. I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA. Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population. This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America. Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years. Papers are coming within the next year about this.

They anticipate that interest will double within the next year. They expect that based on recent discoveries, the 2015 Y tree will be much larger yet. Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.” The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science. Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement. He contacted his birth mother as an adult. She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not. Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’ With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4^th grandparent by process of elimination. While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA. Here, Matt is discussing his children’s inheritance.

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why. Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous. The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds. Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue. Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives. This means that FTDNA’s Jewish “correction” seems to be working quite well. Of course, they do have a great family group with which to calibrate their product. Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish. The non-Jewish group had almost exactly the opposite results.

Jewish people have from 1500-2100 matches.
Interfaith 700-1100 (Jewish and non)
NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project. Jewish people match both Jewish and Interfaith families. NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting. This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried. One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions. Furthermore, the Jewish community has been endogamous longer than some of the other groups. Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable. I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central. In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held. There were several topics. Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended. We had a wide range of expertise in the group and answered many questions. One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well. In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups. This means they are listed on the “tree.” So sometimes public and private can simply be a matter of timing and discovery.

Here’s Bennett leading another roundtable discussion.

Session 7 – Dr. David Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur. He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition. He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology. Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y. It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well. Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers. This is not a test that a new customer would ever order. The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit. We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time. We all bring food or drink and sometimes pitch in to rent the room. We also spill out into the hallways where our impromptu “meetings” generally happen. And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see. Do we know how to party or what???

Here’s Linda Magellan working hard during the reception. I think she’s ordering the Big Y actually. We had several orders placed by admins during the conference.

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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9th Annual International Conference on Genetic Genealogy

Posted on November 6, 2013 by Roberta Estes

The 9^th Annual International Conference on Genetic Genealogy sponsored by Family Tree DNA for their project administrators will take place in Houston, TX beginning Friday, November 8th and lasting through Sunday, the 10th.

I’ll be attending this one, just like I’ve been at every conference since the beginning. There aren’t many of us who attended that first conference and are still attending, and fewer still who have attended all 9 conferences. You can see some photos of that first conference and a few stats here.

Charles Kerchner brought his freshly minted haplogroup pins to sell, R1b for Yline and H for mito. My – how things have changed. Today I wrote a report for a man who is R1b1a2a1a1b4h. Although Charles is now retired from genetic genealogy, I’m sure if he still has some pins, he’d love to unload them, er, I mean, sell you one. In the genetic genealogy world, they are antiques now, but we were surely excited to proudly wear them in 2004. They were kind of the 2004 DNA version of “what’s your sign?” Everyone was walking around the hotel lobby around looking for other people wearing pins! I still have mine and my haplogroup J mito pin too. The first conference was a landmark, watershed, event. We were giddy with excitement to attend the conference and meet each other for the first time, face to face. Sadly, some of those friends are no longer with us.

Looking back, I recall how different things were, and how much they have changed in just under a decade. Most notably, there was no Facebook, no Twitter, no forums and no blogs. The first DNA books for genealogy were introduced that year, as was Mitosearch, and Sorenson released their first data base information.

Back then, the best you could hope for if you couldn’t attend the conference, which was the ONLY educational opportunity for genetic genealogy, was that someone would post on the Rootsweb DNA list about what was taking place. There was no ISOGG list, as ISOGG hadn’t been formed yet and wouldn’t be for another year. Today, ISOGG has 8000 international members.

Speaking of Rootsweb, which was the primary message system at that time, DNA was a taboo subject on the surname and location lists and boards. Actually, it was prohibited everyplace on Rootsweb except for lists like the genealogy-DNA list which had been formed specifically to discuss DNA. I never understood exactly why, but the topic of DNA was treated like a social disease. You couldn’t discuss it, you couldn’t talk about results and you most assuredly could NOT recruit people, even discretely. Messages that even smelled remotely like they might be DNA related were routinely deleted. It seems to me that there was a great amount of fear that DNA might unearth truths that some people didn’t want unearthed or maybe that using DNA was somehow “cheating”. And indeed, it has revealed many truths. The truth is the truth and refusing to talk about it didn’t save anyone. We knew a few years later when one of the biggest opponents said they ordered a DNA test that we had won that battle, although we were a bit shell-shocked. The whole thing seems archaic today and almost unimaginable. Now, of course, we post about DNA on all of the electronic forums and most genealogists can’t imagine NOT having DNA available as a tool. Like many others, I’ve had brick walls fall that could never have met their demise any other way.

Unfortunately, the forums like Rootsweb and Genforum are much less popular today and have in many ways been usurped by Facebook. I find that unfortunate, because the Rootsweb boards and lists were meant to be searched and permanent archives were a built in feature. Ever try to find something someone posted on your Facebook timeline a few weeks later? Good luck with that.

Last year at the conference, I tweeted, as did several others. I won’t be doing that this year. I discovered that different tools (PC, MAC, iPad and iPhone) react and interact differently with Twitter and trying to work through those issues was both frustrating and distracting. This year, instead, I will TRY to blog each day at least briefly about what occurred. We’ll see how that goes. I tried to blog on my private family blog when I was overseas earlier this year too, and that did not go well for a multitude of reasons.

This year at the conference, I’m speaking as well during one of the breakout sessions. My session is titled, “How to Find Your Indian Prince(ss) Without Having to Kiss Too Many Frogs.” Unfortunately, Tim Janzen is speaking about Autosomal Mapping at the same time. I think lots of people will want to attend both of these sessions, and both do deal with using autosomal DNA as a tool. Autosomal is only a part of my presentation however.

Family Tree DNA is also providing Roundtable Discussions and I’ll be monitoring, moderating or hostessing (whatever the appropriate term) 2 separate tables, one on Saturday and one on Sunday for Y-SNPs and Mitochondrial DNA, respectively, along with other volunteers.

For those attending, I’ll see you on Friday at the reception. For those who will be waiting for information, hopefully I’ll be blogging something on Friday evening after the reception if there is anything to report. The sessions don’t actually begin until Saturday morning. Check your Twitter feeds and Facebook for other information posted by other attendees throughout the day.

The conference schedule is here.

It’s always wonderful to see my genetic genealogy friends and cousins once again, so safe journey and see you in Houston!!!

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