Showing posts with label Genetic Genealogy. Show all posts
Showing posts with label Genetic Genealogy. Show all posts

Friday, November 24, 2023

FamilyTreeDNA's Big Y-700 Uncovers Family Relationships

Genetic genealogy provided evidence that three men - all contemporaries who shared the same unusual name - were closely related to each other. But what exactly was the relationship between them?

My fourth great-grandfather was Vachel Kirk. He was born in 1805 in Ohio to Thomas and Sarah (Bonar) Kirk and lived in Licking County where he married Jane Delzell.

He was my family tree’s first Vachel. When I discovered two other men with the same peculiar name living in the same era and in generally close proximity, I had to take a closer look.
  • Vachel Kirk #2: Born in 1783 in either Ohio, Pennsylvania, or Virginia (his children couldn’t agree on a location), he married Rachel Hall. Records place him in Fayette County, Pennsylvania through 1815. Beginning in 1820, he appeared in Butler County, Ohio, where he lived the rest of his life.
  • Vachel Kirk #3: Born in about 1803 in Ohio, he married Susanna Allstaff. Records place him in eastern Ohio (Belmont, Harrison, then Morgan counties) from 1825 through 1850. In 1855, he moved to Hendricks County, Indiana where he lived the rest of his life.
Mindful of traditional naming patterns, I wondered if they were related.

Y-DNA Testing Establishes a Connection


A third great-grandson of Vachel Kirk #2 took an autosomal and Y-37 DNA test with AncestryDNA and FamilyTreeDNA respectively. The Y-DNA results indicated that he was a close genetic match to a dozen direct male descendants of Thomas Kirk, including his son Vachel. The autosomal test also surfaced more than a dozen matches with descendants of Thomas Kirk. However, the low levels of shared DNA make it difficult to pinpoint a specific family relationship with any certainty.

Encouraged by the initial matches, we upgraded the descendant’s Y-DNA test from Y-37 to Y-111 and then finally Big Y-500. At each level of higher testing, the matches with descendants of Thomas Kirk remained the closest.

In April 2023, I finally located several living direct male descendants of Vachel Kirk #3. One of the men, a descendant of Vachel’s son Isaac Kirk, agreed to a Big Y-700 test.

The results showed that he was a close Y-DNA match to all of Thomas Kirk’s descendants and the descendant of Vachel Kirk #2.

Finally, I had evidence that all three Vachel Kirks were indeed genetically related to each other.
 

Y-DNA Mutation Suggests Close Relationship


The Big Y results for the descendants of Vachel Kirk #2 and #3 suggested a particularly close relationship.

In fact, Vachel #2 and #3 are so closely related that both men belong to their own recently identified haplogroup, branching off from the haplogroup shared by Thomas Kirk and his descendants, including his son Vachel Kirk #1.

Y-DNA matches are defined by naturally yet random occurring mutations in the Y chromosome. These mutations are what allow us to distinguish Kirk men from any other man you pass on the street. They define our paternal ancestry. Men pass these mutations or haplogroup on to their sons which makes it possible for genetic genealogists to trace patterns of relatedness (source: David Vance).

Both Vachel Kirks have a newly identified Y-DNA mutation or haplogroup called R-BY100766 that is unique to them.

So why is this important and what does this reveal about my genealogy?

First, if Thomas Kirk (1778-1846) and Vachel Kirk #2 (1783-1836) were brothers (as I initially theorized), then the R-BY100766 mutation had to occur in Vachel #2 because Thomas’ descendants are negative for this haplogroup. 

However, if the R-BY100766 mutation occurred in a generation before Vachel #2 and he inherited it from his father, then he is NOT a brother to Thomas Kirk who is negative for the mutation.

Focusing on the relationship between Vachel #2 and #3, their shared R-BY100766 mutation suggests that they could be:

Father and son



Hypothetical father and son relationship for Vachel Kirk #2 and #3

Although the Y-DNA indicates it is a genetic possibility, a father and son relationship seems unlikely because Vachel #2 and his wife Rachel Hall eventually named one of their children Vachel in 1834 – over three decades after the birth of Vachel #3 (note that this child is not accounted among the three men referenced in this study). Why would Vachel #2 name two of his sons Vachel – especially if the first son of that name was still alive?

The father/son relationship theory is also undermined by the fact that Vachel #2’s future wife Rachel Hall was only 13 in 1803 when Vachel #3 was born. While not biologically impossible, it seems unlikely that she was his mother. There is currently no evidence that Vachel #2 had a relationship prior to Rachel Hall that resulted in children.

It may also be telling that there were just a dozen autosomal DNA matches between the descendants of Thomas Kirk and the descendant of Vachel Kirk #2. A previous case study examining siblingship between Thomas and Mary (Kirk) Geiger surfaced over 100 paired matches. The fewer number of matches between Thomas and Vachel #2 may be a sign that the relationship was more distant thus explaining the drop off in autosomal matches.

Because of the genealogical unlikelihood that Vachel #3 was a son of Vachel #2, it seems probable the R-BY100766 mutation was inherited from a previous generation, suggesting Vachel #2 and Thomas were not brothers.

A more likely relationship scenario is that Vachel #2 and #3 were:

Uncle and nephew



Hypothetical uncle and nephew relationship for Vachel Kirk #2 and #3

FamilyTreeDNA estimates that the most recent common ancestor of the R-BY100766 haplogroup was born around 1770 which they round down to 1750. Although not conclusive, this age approximation would fit well with the birth of Vachel #2’s father.

This would mean that the R-BY100766 mutation was inherited by Vachel #2 from his father (whose identity we don’t yet know). Vachel #2’s unknown father would then be the grandfather to Vachel #3.

In this theory, Vachel #3 would be the son of an unknown Kirk who was brother to Vachel #2.

What do you think? Does this seem possible to you?

Regardless of the scenario, to surface answers, our path forward will require more testing (both Y-DNA and autosomal). Thank goodness for Black Friday and Cyber Monday deals! 

We're getting closer to definitive answers. One cheek swab and saliva sample at a time.

Sunday, March 1, 2020

Should We Develop A Genetic Genealogy Strategy For Future Testing Advancements?

When it comes to autosomal DNA testing, the smart advice is to test your eldest living family members.

None of us are going to be around forever. Life is short and we must gather, while it's available, the irreplaceable spit data that can provide deeper insights into our family's history.

But how do we prepare for future advancements in genetic genealogical testing?

Surely the autosomal testing that currently dominates (e.g. AncestryDNA, 23andMe, MyHeritage, and FTDNA) won't be here for the duration. Something new and presumably better (meaning technologically more advanced) will eventually bound onto the scene replacing the current iteration of autosomal tests.

In preparation for that anticipated new product, should genetic genealogists act now to preserve their eldest family's data, so it can be examined by whatever newfangled test comes to market?


DNA storage for genealogical purposes is possible. One company, FamilyTree DNA, stores customers' DNA samples (purportedly for 25 years). To my knowledge, none of the other genealogically-focused providers currently offer this service.

Is a smart strategy to test older relatives with companies like FamilyTree DNA to preserve a copy of their DNA sample? This way, when new technology is available (and affordable), the sample can be examined by the latest test.

It seems prudent to be forward thinking with our DNA testing strategies both now and in the years ahead - particularly when our eldest family members may no longer be around to provide testing samples.

On the surface, this seems quite sensible. But we haven't even touched on the ethical considerations of preserving and testing DNA samples of family members after they've passed away. Clearly, it's a complicated issue that requires measured consideration.

I'm curious what others think about the matter and what steps, if any, you're undertaking to protect samples for future testing.

What's your take on developing a genetic genealogy strategy for future testing advancements? What other considerations should come into play?

Sunday, August 18, 2019

The Limits of Triangulation

I recently wrote about my difficulties with triangulating DNA cousin matches (see The Trials and Tribulations of Triangulation). Among my challenges were that:
  • Most of my DNA matches tested with AncestryDNA, which does not presently give access to the segment data necessary for triangulation.
  • Encouraging these cousins to transfer their data to a third-party site that does provide access to segment data is sloooow going. 
I really stepped in it, though, when I said that triangulation was the gold standard for identifying a common ancestor among genetic cousins.

While these challenges are real and resonated with many, genetic genealogists were quick to flag that triangulation “was never the gold standard.”

I’ve spent the last couple weeks boning up on the shortcomings of triangulation to better understand its limits.

Let’s look at those limits in the context of the research question I am investigating.

An 18th Century Siblingship Hypothesis


I believe my fifth great-grandfather Thomas Kirk (1778-1846) was the younger brother of his neighbor Mary (Kirk) Geiger (1774-1832).

From beginning to end, their lives followed similar geographical trajectories:
  • Both were born in Virginia
  • Both settled in the southern part of Licking County shortly after Ohio gained statehood 
  • Both are buried in a small cemetery just yards apart 
I've blogged a considerable amount about Thomas and Mary and the many curious tangential links that led to speculation about a family relationship. Recently, I've turned to genetic genealogy to complement the traditional research.

With more than 40 one-to-one autosomal DNA matches between descendants of Thomas and Mary – and each of those matches sharing amounts of DNA expected for their speculated relationship level if Thomas and Mary were in fact siblings – it seemed there was strong supporting evidence for my theory within reach.

Was there a more conclusive way to interpret what the DNA was telling me and credibly substantiate my hypothesis?

An Example Case Study


I got an idea after I read a case study published in the National Genealogical Society Quarterly.

In a nutshell, a professional genealogist was trying to identify the father of a woman born in 1789. Although traditional genealogy had surfaced a candidate for paternity within her small community, it failed to provide a definitive answer. Turning to genetics, there were significant amounts of shared autosomal DNA between descendants of the woman and her suspected paternal family. To reinforce the argument, these one-to-one matches were supplemented with a handful of triangulated matches among third to sixth great-grandchildren of the alleged father. The case study concluded that the paired and triangulated DNA matches supported the theory that the woman was the daughter of the possible paternal candidate.

This example seemed like a perfect fit that was analogous to my own research hypothesis. If this approach was good enough for a professional case study, then surely it could help me conclude that Thomas and Mary were siblings. I determined I would replicate the model, and search for triangulated matches among the dozens of paired matches already found between Thomas and Mary.

That’s when I crashed head-on with the triangulation trials and tribulations and realized that - while the methodology offers potential value - it was not a gold standard.

Approach with Caution


The odds for finding a triangulated match between descendants of my 5th great-grandfather and his possible sister are not in my favor. In fact, they're downright daunting. I knew that would be the case, but I didn’t realize how poor my chances were.

My DNA is too far removed from Thomas and Mary and their parents, the Most Recent Common Ancestor (MRCA), to be an effective magnet for cousins. As a fifth great-grandson, I could expect – on average - to share less than 1% of Thomas’ DNA (0.78% to be exact).1 It's easy to imagine how grim the odds are for inheriting any DNA from his parents, my sixth great-grandparents. They're edging on genealogical ancestors who no longer have an imprint on my genetic family tree.2

I needed proxies closer in time to Thomas and Mary who inherited more of their DNA and could boost the odds for matches. Fortunately, several third great-grandchildren of Thomas and Mary are still alive and have tested (all would be fourth great-grandchildren to the parents of Thomas and Mary - the MRCA).


Odds of Inheriting DNA


According to AncestryDNA,3 there's a 100% likelihood that we've inherited DNA from our ancestors up to five generations removed. This means that the tested descendants almost certainly inherited some of their DNA from Thomas and Mary. Although we’re only talking about, on average, 3.12%.

At six generations, AncestryDNA estimates that there’s still a 99.99% chance that we’ve inherited DNA from our ancestors (meaning it’s probable that the tested descendants have inherited DNA from the parents of Thomas and Mary).

Knowing that there’s a 99.99% chance that we inherited DNA dating back at least six generations, but mindful that it’s a slim amount, how likely are these fourth great-grandchildren of the MRCA to share DNA with each other?

Odds of Sharing DNA


According to AncestryDNA, there's a 100% chance that you'll share DNA with siblings through second cousins. Beginning with third cousins there’s a 98% chance, but then the odds dip and decline dramatically for each subsequent generation:
  • fourth cousins (71%)
  • fifth cousins (32%) 
  • sixth cousins (11%) 
  • seventh cousins (3.2%) 
Fourth great-grandchildren of the Kirk MRCA would be fifth cousins and, at least at AncestryDNA as a result of their phasing methodologies,4 would have a 32% chance of sharing DNA.

While the odds aren't great, they're not entirely insignificant and may explain why I’ve found over 40 one-to-one matches between descendants of Thomas and Mary at AncestryDNA.

Odds of a Triangulated DNA Match


When it comes to triangulation, however, it’s not enough to just find a match. It requires that a group of cousins share the same segments of DNA.

What are the chances of that happening?

Not good.

The process of recombination – how our DNA is randomly mixed up before it’s passed to each new generation – ensures we inherit a mishmash of our parents’ DNA.5

This amalgamation of DNA passed from one generation to the next makes it unlikely that three fourth great-grandchildren of the Kirk MRCA would all share overlapping DNA segments.

AncestryDNA found - with a threshold of five centiMorgans (cM) - that three random first cousins shared the same DNA segment 84% of the time. However, when five first cousins were compared, there was only a 40% chance that they each shared the same segment. The likelihood of sharing the same DNA segment among ten first cousins plummeted to 0%.

Even though first cousins will share DNA 100% of the time, the recombination process keeps us on our toes and makes it unlikely that cousins will inherit the exact same pieces of DNA.

Bottom line, the odds are daunting and not in favor of triangulation for recent relationships. Imagine how much grimmer the prospects are for finding triangulated segments among descendants of the Kirk MRCA.

The lesson learned, according to AncestryDNA's computational scientist was that, "We can't rely on those pieces of [matching segments of] DNA in order to bring people together." The odds aren’t in our favor.

And this doesn’t even touch on other complicating factors like
  • larger shared segments potentially coming from more distant ancestors, or
  • the DNA match actually coming from shared ancestors who are not currently known nor mapped out in the pedigree, or 
  • misleading pile ups on certain DNA segments. 
Clearly, triangulation is not the gold standard for identifying and verifying ancestral matches.

The dim probabilities (coupled with challenges inherent to DNA-testing at AncestryDNA) likely explain why I’ve only found, to-date, two triangulated matches between descendants of Thomas and Mary from the 40+ paired matches.

I'm not discounting these triangulated matches or the value of triangulation in certain cases, but I am meditating on alternative approaches to determine how best to leverage these DNA matches to prove or disprove that Thomas Kirk and Mary (Kirk) Geiger were siblings.



[1] https://dna-explained.com/2017/06/27/ancestral-dna-percentages-how-much-of-them-is-in-you/

[2] https://gcbias.org/2013/11/11/how-does-your-number-of-genetic-ancestors-grow-back-over-time/
[3] https://www.ancestry.com/academy/course/ancestry-dna-circles
[4] https://cruwys.blogspot.com/2016/01/autosomal-dna-triangulation-part-2.html
[5] https://cruwys.blogspot.com/2016/01/autosomal-dna-triangulation-part-1.html

Friday, August 2, 2019

The Trials and Tribulations of Triangulation

There are millions of consumers spitting and swabbing their way to family history. An entire industry is on the rise, eager to be the spittoon to the masses and their gateway to genetic genealogy.1

Ethnicity estimates, of course, are a huge draw for the average Joe (“Kiss me, I’m 21% or 39% or 53.9% or 21.9% Irish!).2 My head’s already spinning, and I haven’t even had a pint of Guinness, yet.

Test-takers (particularly Americans where market penetration is greatest) are racking up cousin matches by the thousands. This overload abundance of unidentified relationships makes for Mission Impossible when you just want to pinpoint your link to William the Conqueror and make a better case for Liz’s crown.

Serious family historians fight the good fight, trudging through hordes of matches hoping for public trees that align with their own. If they’re lucky they’ll find a paired match with Average Joe who has a well-documented pedigree making it easy to pinpoint a shared ancestor.

While offering important clues to possible family relationships, these one-to-one matches are not entirely conclusive on their own.

Try Triangulation


What if you’re looking for more substantial evidence to untangle a tightly knotted family mystery? Can you do something a little more sophisticated with those DNA results?

Perhaps.

One approach is called triangulation. Genetic genealogist Blaine Bettinger defines it as, "a process or method by which three or more people all sharing an overlapping segment of DNA in common compare their family trees in order to identify a common ancestor or ancestral couple shared by all."3

Triangulation is often touted as the gold standard for verifying a common ancestor among genetic cousins.

I have my own case study where triangulation may provide an answer for a theory of mine. 

Theory: My fifth great-grandfather Thomas Kirk (1778-1846) of Licking County, Ohio was the younger brother to Mary (Kirk) Geiger (1774-1832) also of Licking County. 


I really think they were brother and sister. I've found more than 40 one-to-one DNA matches between descendants of Thomas and Mary. The amounts of shared DNA between those paired matches aligns with the projected relationship-level (usually 5th cousins or 5th cousins once removed) that I would expect to see for the matches if Thomas and Mary were siblings and their parents were the common ancestors for all testers.4

Could triangulation provide more substantive, respected evidence so I could confidently conclude that they were siblings?

All I have to do is find living descendants of Thomas and Mary, test their DNA, and compare for overlapping segments. And those first two steps are mostly done. There's just step three to tackle.

Sounds worthwhile and easy enough, right?

Why is it so difficult to triangulate?


I quickly learned that triangulating autosomal DNA was easier said than done. In fact, I think Euclid had an easier go of it.

The first obstacle I encountered was getting access to the information needed to properly triangulate matches.

Nearly all of those 40+ paired matches were discovered on one monolithic genealogy site.

Guess which site does not provide information on whether matches triangulate nor does it give access to the segment data necessary to triangulate? The big monolithic one, of course.

To triangulate, I would need to persuade my genetic cousins to download their data from the monolith and upload to another entity that offers triangulation capabilities. Not impossible, of course, but frustrating that the approach can't be undertaken at the monolith.

The second obstacle I encountered was where to persuade the matches to transfer their results.

A couple years ago, this would have been a straightforward answer. There's one third party website that was the go-to site for testers to upload their data from most of the consumer DNA websites, especially the monolith.

However, following the apprehending of the Golden State Killer and other violent criminals thanks in part to a lead from a consumer genealogy test uploaded at this third party site, sensational headlines have raised privacy concerns.5 The subsequent spotlight on the use of the site by investigative authorities and a robust dialogue within the genetic genealogy community has been withering.

Was law enforcement surreptitiously mining users' data without their knowledge and consent? While this conversation is ongoing, concerns around ethics and privacy have created an unease that makes testers more cautious with their data.

Seeking a site that largely escaped the clickbait headlines, I settled on a popular genealogy platform based out of Israel that has proven an innovative player in the consumer DNA game and - most importantly to my case study - has a tool that identifies triangulated matches. Opportunely, they offer FREE uploads of DNA data from other companies (although there's a nominal fee to gain access to tools like the triangulation feature), and their Terms and Conditions of service attempt to put at ease concerns about law enforcement access:

"...using the DNA Services for law enforcement purposes, forensic examinations, criminal investigations, "cold case" investigations, identification of unknown deceased people, location of relatives of deceased people using cadaver DNA, and/or all similar purposes, is strictly prohibited, unless a court order is obtained. It is our policy to resist law enforcement inquiries to protect the privacy of our customers."6

The third obstacle I am now encountering has more to do with the science of how DNA is inherited and fades with each subsequent generation, drastically reducing the amount of genetic overlap needed for triangulation. The eldest living generation of Kirk descendants who have tested are 4th and 5th great-grandchildren of Thomas and Mary Kirk's parents.

At this level, there's very little DNA inherited from 4th and 5th great-grandparents: 1.56% and 0.78% respectively.7 The odds that the tested matches have inherited any DNA from Thomas and Mary's parents are slim, and the chance that they have inherited the same, overlapping bits of DNA required to triangulate a match are even slimmer!

And yet, despite all of these obstacles, I have identified my first triangulated match.

Two 4th great-grandchildren of Thomas Kirk - each descended from a different line - triangulate with a single descendant of Mary (Kirk) Geiger. It's a small 10.3 cM triangulated match, but, right now, it's my beloved inspiration and motivation to persevere through the trials and tribulations of triangulation.



While I wait for more Kirk and Geiger descendants to transfer their data and pray for overlapping segments, I find myself asking, "Why is triangulation so difficult if the rewards are potentially so great?" Surely it doesn't have to be this hard (shaking fist at that monolith).



[4] https://dnapainter.com/tools/sharedcmv4
[5] https://www.wired.com/story/the-meteoric-rise-of-family-tree-forensics-to-fight-crimes/
[6] https://www.myheritage.com/FP/Company/popup.php?p=terms_conditions
[7] https://dna-explained.com/2017/06/27/ancestral-dna-percentages-how-much-of-them-is-in-you/

Saturday, November 10, 2018

The Amalgamation of Me: DNA Ethnicity Estimates

I'm a zealous convert when it comes to incorporating DNA into traditional genealogy. As a tool, it empowers research in ways never before imagined.

I speak from experience.

Genetic genealogy confirmed a long-suspected Non-Paternal-Event (NPE) in my own family tree (that four-part saga begins with A Family History Mystery Revealed). 

DNA connected me to my biological patrilineal pedigree, bypassing a fiction that had been touted as truth and perpetuated for more than 80 years. Without the insights from genetic cousin matching, it's doubtful that the truth would have ever surfaced or been confirmed through conventional paper trail research. 

Family historians imperil their own research when neglecting genetic testing.

But that's not what prompts many people to test


Let's face it, many consumers are not interested in - or even aware of - the full potential of DNA testing. Instead, they're lured to spit in tubes by flashy promotions that distill ancestral genetic testing down to simple geographical ethnicity estimates.

Why bother trawling through vital records, census enumerations, or tax and land deeds if you can get answers from salivating? Just wait a couple weeks and let the lab tell you who you are and where your people come from.

And I get it. To the average Joe, the appeal of this aspect of DNA testing fits with how we often casually discuss ancestry. 

"Where do your people come from?"

Which is met with an Atlas-grab of countries peppered with eyebrow-raising stories of a Mayflower voyage to the Americas and, for good measure, lineage anchored to [insert royal monarch here].

Of course, the DNA estimates are only as accurate as the sample populations against which your saliva is compared. They are interesting, for sure, but not something that has served my researched genealogy in meaningful ways. Not yet, anyway.

Don't get me wrong, I'm fine with the glossy appeal of ethnicity mapping features. After all, it's probably why millions of folks have tested who wouldn't have otherwise. Who knows, maybe one among them will help me bust through a research brick wall.

While I've long disregarded the ethnicity mapping featured by the companies with which I've tested, the recent results from a fourth company finally piqued my curiosity. 

Where do my people come from?


I've taken autosomal DNA tests with four of the leading genetic genealogy providers. How did my results stack up against each testing company? 

The results, while interesting, highlight the varying interpretations a tester is apt to get.


AncestryDNA
     
  • England, Wales & Northwestern Europe: 69%
  • Ireland and Scotland: 21%
  • Greece and the Balkans: 3%
  • Sweden: 2%
  • Norway: 2%
  • Italy: 1%
  • Portugal: 1%
  • Cameroon, Congo, and Southern Bantu Peoples: 1%


Family Tree DNA

  • West and Central Europe: 59%
  • British Isles: 39%
  • Finland: < 1%
  • West Africa: < 2%



23andMe

  • British & Irish: 53.9%
  • French & German: 11.2%
  • Italian: 4%
  • Scandinavian: 3.3%
  • Iberian: 1.9%
  • Balkan: 1.8%
  • Sardinian: 0.2%
  • Finnish: 0.1%
  • Broadly Northwestern European: 18.3%
  • Broadly Southern European: 2.2%
  • Broadly European: 1.7%
  • West African 0.7%
  • North African & Arabian: 0.3%
  • Southeast Asian: 0.1%
  • Broadly East Asian & Native American: 0.1%



MyHeritage

  • English: 31.7%
  • Scandinavian: 26.7%
  • Irish, Scottish, and Welsh: 21.9%
  • Iberian: 14.9%
  • Italian: 4.8%



There's a lot of variation across the European continent, which is likely the result of each company's differing sample populations against which my DNA is compared as well as their proprietary behind-the-scenes numbers-crunching. 

I think the results are clear: I'm an amalgamation of Europe with consensus on strong concentrations in Britain (God save the Queen!) and Ireland. My Italian ancestry is interpreted in varying fashions, and the Scandinavian consistently finds its way into the tally. 

Taken on the whole, I see where my paper trail dovetails with these estimates. But my research path isn't directed by these maps.

How do your estimates compare across companies? In what ways do ethnicity estimates inform your genealogy?

Sunday, February 11, 2018

The Genetic Family Tree Grows New Buds

Genetics are now tightly intertwined with genealogy. The powerful role DNA plays in revealing family history has been nothing short of revolutionary, says the guy who unraveled a Not-the-Parent-Expected (NPE) event thanks to DNA.

DNA testing for genealogy has gone mainstream, catching the imagination of consumers who aren't ardent genealogists (for better or worse).

Databases of DNA-tested consumers are experiencing exponential growth (check out the latest numbers at Leah Larkin's The DNA Geek blog). More testers means increased potential to connect with genetic cousins who may expand our family trees, perhaps even knock down a few brick walls.

Genetic Haplogroup Family Tree
A year ago, I wrote about the creation of a new kind of family tree - one based on genetics and not names.

The Haplogroup Family Tree is a pedigree of paternal and maternal haplogroups.

What's a haplogroup? The International Society of Genetic Genealogy defines it as, "a genetic population group of people who share a common ancestor on the patrilineal or matrilineal line. Haplogroups are assigned letters of the alphabet, and refinements consist of additional number and letter combinations."

In the past year, my genetic family tree has seen two primary changes: an evolution of my paternal Y-DNA haplogroup and a newly-tested family line.

Family Sleuther's genetic family tree

My primary attention has been on my paternal line, using Family Tree DNA's Big-Y test to refine my patrilineal haplogroup to a more recent timeline (but more on this in a future post). In the last year, my paternal haplogroup has narrowed from R-A664 to R-BY30547 - a branch (or, more appropriately, a twig) of mankind's Y-DNA tree that is unique to my relatively recent paternal ancestors.

The second update is that my mother's brother recently agreed to Y-DNA test, which will provide me that line's Y-DNA haplogroup. When those results arrive, I'll need just two great-grandmothers' maternal haplogroups: great-grandmothers Ruoti and Wagnon.

Fishing For Cousins
Roberta Estes, author of the wonderful DNAeXplained - Genetic Genealogy blog, just featured her own genetic pedigree in a recent post. She's detailed her paternal and maternal haplogroups back to her great-grandparents. Like me, she needs to identify just two great-grandmothers' maternal haplogroups.

To fill those gaps, Estes offers to provide free DNA tests to qualified descendants of those ancestors. I think that's a fantastic idea. 

So ping me if you're a descendant with a direct maternal connection to either of the women below:
  • Maria Filomena (La Rocca) Ruoti, 1875-1929, Potenza, Italy and Denver, Colorado: this is actually my second great-grandmother, but her daughter, my great-grandmother, had no female descendants to carry on the matrilineal haplogroup, so I have to take it back a generation.
  • Mary Pauline (Wagnon) Upton, 1906-1992, Muskogee, Oklahoma.
A lot can happen in a year. We'll see how fulsome the tree looks in twelve months. 

Saturday, February 11, 2017

Building A Genetic Haplogroup Family Tree

The introduction of DNA into genealogy has been revolutionary for the hobby.

What was once a seemingly straightforward process of tracing family names through paper trails and family lore - where they existed - has been made more nuanced (some would argue complicated) by the ability to identify and establish family bonds using the invisible genetic signatures inside each of us.

The Power of Genetic Genealogy
I am thankful for the insight that genetic genealogy affords the family historian. I witnessed firsthand just how powerful a truth rests in the blood. DNA helped me uncover a long-forgotten family secret (follow that wee little adventure in my four-part series A Family History Mystery Revealed).

Uncovering a Non-Paternal Event (NPE) and learning the identity of my biological paternal great-grandfather was an eyeopening experience. While it didn't change the love for the family who raised my grandfather, it certainly expanded the branches of my family tree in unanticipated ways. There were new relatives with new surnames to research.

Above all, there was a new appreciation for the genetic family tree.

A New Kind of Family Tree
In late January, I read Lara Diamond's blog about her Updated Haplogroup Tree with great interest. She built a pedigree that documents not names of family members but rather the haplogroup of her ancestors.

Perhaps you're wondering what is a haplogroup?

The International Society of Genetic Genealogy defines it as, "a genetic population group of people who share a common ancestor on the patrilineal or matrilineal line. Haplogroups are assigned letters of the alphabet, and refinements consist of additional number and letter combinations."

Using the Y-DNA (paternal line) and mtDNA (maternal line) test results for family members tested with both FamilyTreeDNA.com and 23andMe.com, I plugged my ancestors' known haplogroups into my first Genetic Haplogroup Family Tree.

Family Sleuther's Genetic Haplogroup Family Tree

It's a fledgling set of results with haplogroups known for 11 of the 15 family members depicted in my genetic pedigree. 

There remains work to be done. I don't yet know my maternal grandfather's Y-DNA haplogroup or his mother's. I also don't know my paternal great-grandmother's haplogroup. Fortunately, I'm certain there are descendants of these individuals who can test and provide this data. The clock is ticking. We'll check-in in a year to see what progress I make.

What about your Genetic Haplogroup Family Tree? Have you started mapping out your ancestors' haplogroups?

Sunday, January 8, 2017

Genealogy Goals in 2017

Every January I set goals to guide my genealogy research in the year ahead.

I don't like to get too granular and only want broad goals to nudge my research along. After all, I want to remain open to the many surprises - sometimes serendipitous - that genealogy can offer.

In 2017, mindful of my progress last year, I'm cutting myself a bit of slack and going light on the goal setting.


A Recap Of The Year That Was
In 2016, I set an array of goals that included the following:
  • Continue to collect and scan family photos from relatives near and far.
  • Write narrative biographies of my ancestors, beginning with my great-grandparents.
  • Join a local genealogical society and attend meetings.
Oops! I accomplished only one of these.

Last year, I did continue to collect and scan family photos. Did you see the most recent example in Family History Coded in Shorthand? In 2017, I still aspire to tackle all three of these goals.

In 2016, I also set a handful of lofty goals to break through some of my brick walls. No, not one or two. Try four. I intended to break down four brick walls.

How'd I do? I broke down none of them. Zero. They remain standing. Impenetrable and daunting. They loom over my research taunting me. No worries. I'm plotting my plan of attack in the shadows.

Where I did make significant progress in 2016 was in conducting an exhaustive investigation of my fifth great-grandfather Thomas Kirk. With a dozen blog posts written about the man and my efforts to learn the identity of his parents, I've uncovered a slew of information including the identity of a previously unknown daughter, mapped out property he owned, and tabulated the taxes he paid over several decades in the early 19th century. I'm exhausted, but his parents remain unknown and the hard work remains.

The Year Ahead
In 2017, I'm open to letting my research go where the records, family lore or photos may take it. But I would like to focus on a few areas in particular.

For my ongoing research into Thomas Kirk's ancestral background, I plan to:
  • Locate Kirk ancestors overseas to Y-DNA test and, hopefully, link my paternal line to the Old Country.
  • Collect autosomal DNA samples that will allow me to re-create, so to speak, the DNA of Thomas Kirk and Vachel Kirk of Butler County, Ohio - a contemporary of Thomas whose paternal relationship is confirmed by Y-DNA, but whose specific familial relationship remains unknown.
More generally, I would like to pursue the following in the year ahead:
  • Write biographies for my ancestors. It's time to piece together all of the data I've culled and create a narrative that tells their stories in a compelling fashion. I believe this is how I will engage with the biggest non-genealogist audience.
That's it. Those are the goals I'm setting for the year ahead. I think these are feasible. What do you think? Wish me luck and we'll check in and see how I did in twelve short months.

Sunday, October 9, 2016

A Birthday of Genealogy Serendipity

The Author's Maternal Grandmother
This was a week of milestones. Sunday was the two year anniversary of my maternal grandmother's passing. Thursday was my birthday.

While I'm not one to usually look for signs from above, it seemed like more than just a coincidence when the bill for my birthday breakfast came back matching the last two digits of each of our birth years: hers the dollars and mine the cents.

The chance pairing of those numbers stuck in my head and set the tone for the rest of my birthday.

A DNA Research Project
Readers of this blog know that I am researching my 5th great-grandfather Thomas Kirk. He represents a brick wall for my paternal line. I want to learn the identities of his parents and their ancestral origins. Given the spotty 18th century paper trail, I've turned to genetic genealogy.

Thomas had a large family with at least twelve children. Seven of his children were sons who lived to adulthood and had sons of their own. To accurately recreate Thomas' Y-DNA, I've been searching for male descendants of each of his seven sons.

After months of research and outreach, four men - descendants of four of his seven sons - agreed to participate in the Y-DNA initiative and tested. However, I still wanted to find male testers descending from the remaining three sons. I had feelers out to several men.

Genealogy Serendipity
Stopping by the mailbox on my birthday, I saw there was a letter from a gentleman who was a descendant of one of those three remaining sons. He's not online and doesn't have an email address, so we've been corresponding about our shared Kirk ancestry through letters.

I ripped open the envelope and pulled out his note: "Yes I would be willing to do a DNA test."

I was ecstatic! Testing another descendant of one of Thomas' sons was a fantastic birthday present. I quickly loaded up the DNA website and ordered his kit. Five sons tested only two sons to go.

When I logged into my own account, I saw that I had a new Y-DNA match. The match's surname was Kirk. I quickly recognized that the first name belonged to a gentleman I spoke with this past winter about testing. Months of radio silence later, here I was staring at another genetic match and, best of all, the descendant of one of the two remaining sons.

Chart of Y-DNA-tested descendants of Thomas Kirk's sons. 

What were the odds that two more men - much sought-after descendants of two of Thomas' sons - would both contribute to the Y-DNA research project on the same day? And my birthday to boot! It felt rather serendipitous. As a genealogist, I couldn't ask for a better gift, and I can't help but wonder if my grandmother had a hand in it.

My focus is now on Thomas' last remaining son. William Kirk, you're next!

Sunday, August 9, 2015

Top 10 Reasons to Climb Your Family Tree

Genealogy is a fast growing billion dollar industry ranked as America's second most popular pastime (only behind gardening).

Its internet dominance has also scored it a position as the second most frequented category of website (right behind porn).

With the introduction of DNA testing to its research repertoire, genealogy has gone high tech. New researchers are attracted to the hobby thanks to the introduction of science and its more dynamic experience.

Continuing to attract new users is in the interest of all genealogists. More researchers mean new cousins who may hold the clues to the answers we're after.

To help lure these budding genealogists, Family Sleuther compiled a listicle over at BuzzFeed. Check it out!

Friday, August 22, 2014

Genetic Genealogy: Not Your Grandpa's Genealogy

I've tested with all three genetic genealogy companies. I've had family members test, too (Yes, both of my grandmothers have spit in little tubes!). I understand that DNA can tell me who I am related to, and that different types of DNA (Y, mitochondrial, and autosomal) can point at shared common ancestors within the parameters of each particular type of DNA.

But how do I break through brick walls with DNA exactly? How do I triangulate all of the data to get at meaningful information? These questions drove me to attend the inaugural 2014 International Genetic Genealogy Conference sponsored by the Institute for Genetic Genealogy (i4GG).

The weekend proved to be a phenomenal education in genetic genealogy. Friday featured two-hour presentations by each of the three key players in the DNA ancestry field: 23andMe, Ancestry.com, and FamilyTreeDNA. All three walked through their products, took questions from the audience, and even hinted at future offerings. A couple even took audience feedback to heart, and one faced considerable audience criticism for their current refusal to share chromosome information that's critically important to confirming genetic relationships.

Across all presentations, I was struck by the increasingly exponential popularity of genetic genealogy. Keynote speaker Dr. Spencer Wells, a National Geographic Explorer-in-Residence and Director of the Genographic Project, noted that it took 11 years for the one millionth consumer to complete a personal DNA test in 2013. By mid-2014, the second millionth consumer had already submitted their DNA sample.

Dr. Wells surmised that direct-to-consumer DNA testing is the "most disruptively radically changing technology in history." This isn't an understatement. We're still discovering the ways in which DNA can advance our genealogy.

During his presentation on Using Free Third-Party Tools to Analyze Your Autosomal DNA, Blaine Bettinger referenced a tool that allows users to analyze their inherited DNA to artificially reconstruct an ancestor's DNA. It's reminiscent of the March 2014 news that scientists were able to use DNA to create "crude 3D models of faces."

Clearly, this isn't grandpa's genealogy of yesteryear. We're not just talking about DNA helping to match us with distant cousins. We're talking about identifying DNA lost to time and reconstructing great-granddad's face! Maybe I'll finally be able to identify all of those old unlabeled family photos.

I left the conference exhausted (12 hour days, people!), but incredibly excited. There were many great sessions that provided insight into my initial questions about how to break down brick walls through triangulation. 

But I was most struck by the fascinating discoveries continued DNA research has in store for the future of family history, and how everyday genealogists (citizen scientists, really) are leading the practical application of the science to genealogy. As event organizer CeCe Moore noted, "the discoveries that we'll make are in our hands."