Tomorrow, Friday May 6th on ABC, 20/20 will cover a story that I have been working on for the last few months.
Unbelievably, three babies were found abandoned within a five mile radius of each other over a five year period of time and DNA testing at AncestryDNA revealed that they all share the same mother. (More details are here.) See them reunite below.
Then, through testing the foundlings at 23andMe, we made another major discovery. Don't miss the entire story on 20/20 Friday night on ABC (check your local listings).
Showing posts with label Family Tree DNA. Show all posts
Showing posts with label Family Tree DNA. Show all posts
Thursday, May 5, 2016
Friday, February 27, 2015
Switched at Birth: Unraveling a Century-Old Mystery with DNA
The following is a guest post by Alice Plebuch demonstrating the potential of DNA testing. When Alice first contacted me about two and a half years ago with the beginning of this incredible tale, I knew that the answer was just waiting to be discovered one day through genetic genealogy. Many of you may have heard part of her family's story already, but I thought it only made sense for Alice to share it from the beginning through to its completion since it was her DNA test that started the unraveling of this mystery and her persistence that, finally, led to the resolution. (The final piece of evidence just arrived this week and, with it, the confirmation needed by Alice's family to finally share their story.)
I have six siblings strewn all over the United States. By chance, two brothers visited within days of my receiving the perplexing DNA report. Their reactions ranged from finding the Jewish component mildly interesting, but wrong, to outright ridicule. How could I ever imagine we were anything but Irish, they asked? Nothing makes me take an opposite position faster than being mocked. I defended the test, even as I harbored huge doubts. Looking at the family trees of my matches became a daily endeavor and I wondered, could I really be related to these people?
I called my only sister, Gerry, and shared the disturbing results. Her immediate and intense reaction was that the DNA test was correct. Gerry thought it just felt right. I had conducted some research on genetic testing companies so when Gerry decided to test, I recommended 23andMe where I knew we'd have direct access to our genomes. I also retested at 23andMe.
Waiting on the second round of testing gave me time to imagine incredible scenarios, most notably, "I was adopted" and "Mom had an affair"! Gerry laughingly dismissed those notions by reminding me of how much we all resemble Dad. Everyone in the family has Dad's distinctive eyes and I certainly have his flat feet and massive bones. Nevertheless, it was a real relief when the first thing I saw in my DNA family list was a nephew with the proper relationship. Shortly thereafter, Gerry's results were posted. We were full sisters and both half Ashkenazi! Another brother casually mentioned he also tested at 23andMe. His profile was neither public nor had he even looked at his ancestry composition. We quickly shared genomes and it was three for three.
To be on the safe side, I sent a copy of my genome to Doug McDonald, a retired professor at the University of Illinois, noted for calculating accurate ancestry admixtures. His analysis was quite pointed. "It can't be any clearer. One of your parents is Jewish."
Now that the Ashkenazi component was verified, the question of which parent remained. Our prime suspect was Dad. Mom had an extremely well documented family tree, but more importantly, we personally knew many of her huge extended family and they were definitely not Jewish. We had pictures of Mom's family extending back over a hundred years. Dad's parents died while he was young, and kin did not raise him.
So together, my sister and I worked out a plan where we would test first cousins from both sides of the family. Our cousins are considerably older than us and we were concerned they wouldn't be open to DNA testing. We were pleasantly surprised when they eagerly agreed to spit for us. Their one request was that their identities be kept private.
We also asked our brother, Jim, to take a Y-DNA test through National Geographic. His test came back, indicating his genotype is the predominate type in southern Ireland where our grandfather was born. Almost as a footnote, it was mentioned that a small number of Ashkenazi Jews shared the genotype.
23andMe has a facility called Countries of Ancestry that displays areas on a person's chromosomes that are associated with Ashkenazi Jews. Those areas are displayed in blue, the rest in white. Once again, I found myself staring at a computer screen trying to make sense of what I was seeing. I kept flipping back and forth between the chromosomes of Bill, Gerry and myself, when suddenly I had a "Eureka!" moment. Males inherit their X-chromosome exclusively from their mothers while females get one allele from their mother and the other from their father. Blue permeated each and every single chromosome for Gerry and me, but there wasn't a single dot of blue on our Bill's X-chromosome. Dad was Jewish!
Armed with the knowledge that the Ashkenazi genes came from Dad, Gerry and I made a friendly bet. I wagered that our paternal cousin would also be Jewish. My sister was just as sure he wouldn't be related to us. She had come to the seemingly ludicrous conclusion that "Dad was switched at birth!"
More waiting provided time to research Dad's parents; after all, they could have been Irish Jews or Jews that assumed Irish persona so they could more easily enter the United States. Now that everything is on the Internet, it was relatively easy to verify that our grandparents came from Irish Catholic families, marrying into other Irish Catholic families, for quite some time. There was no hint that they were anything other than Irish.
It was almost as Loki, the trickster, was having fun with us. One cousin's kit had the correct address on it, but it was delivered it to the wrong address and the person just kept it, unopened. The other cousin's saliva didn't yield sufficient DNA and had to be reprocessed. At last the results arrived.
Mom's nephew was almost classic 1st cousin match. I went cold when I ran the comparison for Dad's nephew. None of us had any genetic relationship with him, whatsoever. He was as Irish as we were Jewish! I lost the bet with Gerry, but more importantly, was left with the unenviable task of telling our beloved cousin that we weren't genetically related.
The family was stunned. Our brothers were no longer laughing. My sister and I swung into high gear to find our biological grandparents.
The big question was how could Dad become separated from his family. In 1913, most women had home births, but Dad's birth certificate clearly states he was born in a hospital. Even today, with high-tech monitoring, occasionally babies are misidentified. Imagine a hospital that has just started delivering babies and didn't foresee mix-ups, much less DNA. We knew when and where the other baby was born so we turned to The New York City Birth Index, in which we identified thirty male infants born in the Bronx within a day of Dad.
Our untested brothers dutifully spit into test tubes so we'd have a better chance of finding a match. Then, all our genomes were transferred to Family Tree DNA and GedMatch to widen our dragnet. Although Jim already took a Y-DNA test, it only reported on 12 markers; far too few for genealogical purposes. Bill volunteered to take the more expensive, but much more accurate, "111-marker Y-DNA" test at FTDNA. Although Bill had the same genotype as Jim, his matches were with Ashkenazi men of Eastern European ancestry, with the notable exception of an Irish man with our surname! We choose to discount the Irish match as being a NPE after talking with the family. Bill had a single "extremely significant" match that predicts a common ancestor within 4 generations. We were hopeful and dared wonder, "Had we found our father's true surname?" Unfortunately, autosomal DNA tests indicated a more distant relationship.
It was suggested that what we should look for a Jewish baby with a surname similar to ours. In fact, there was a male infant with a very close, but distinctively Jewish, surname. Thanks to a birth announcement in the NY Times we were able to trace the family into the present. DNA testing showed he couldn't be the Irish child. Our hopes for a quick and easy resolution were crushed.
Thus began the tedious work of the next two and a half years. On behalf of the family, Gerry and I sent out over a thousand invitations to share genomes at 23andMe. We also contacted many of our approximately 3,000 DNA cousins (each, for a collective total of 7,000 unique cousins) at FTDNA. The overwhelming majority of DNA cousins never responded, a few hurt our feelings by refusing to even speak to us, but enough accepted to build an excellent search base. A few of our Jewish DNA cousins have become fast friends and marvelous co-researchers.
As more and more match data accumulated, it became obvious to Jim, that the spreadsheets we used were unwieldy. Jim used his skills as a developer to create an iPad application, DNAMatch, which easily and efficiently managed the 300,000 plus overlap segments our large family has generated. Real analysis was finally possible.
We had massive amounts of information on the location and surnames of our DNA cousins and were able to make some predictions. Minsk, Vilna and Ukraine were clearly geographic "hot spots", yet some of our closest matches traced their families to Romania. Many were related to us on both sides of their families. While the majority of our contacts knew their ancestors came from Russia, they weren't sure of the town or even the name of the current country. Ancestral surnames changed at a dizzying pace or they simply didn't exist. I hate to admit I was getting depressed over the probability of finding our grandparents, but...
Dad's Irish nephew has always been supportive of our quest and I provide him with updates. His 23andMe DNA Relatives list doesn't change frequently, so I'd fallen into the habit of checking his matches monthly instead of daily. In the middle of my most current update, rather than report a lack of progress, I stopped and signed on to his profile. OMG! OMG! There, right below his name, was an anonymous woman listed as a second cousin. In my heart-of-hearts, I knew she was the key. With my heart pounding and my hands shaking, I wrote her a personalized invitation, explaining that I managed my cousin’s account. Would she would compare genomes with him to help me solve a 100-year-old mystery concerning my father.
When she accepted, I wrote, “Thank you for responding so quickly. P N [his posted name] is helping me discover who my real grandparents were. Theoretically, we are first cousins, but I found out, through a DNA test that my Irish father is, in fact, fully Ashkenazi Jewish. We tested all our first cousins and he doesn't match my family at all, which is impossible if we were genetic first cousins. Every expert that has looked at the evidence is convinced, as are we, that Dad was accidentally switched at birth with the Irish child.”
Jessica, the young woman, in turn responded, “I was actually expecting to be much more Ashkenazi than I am. My father died when I was very young, but I was always told that both his parents were descended from Eastern European Jews. Through this test I've found that I am only about 2% Ashkenazi and that I am actually Irish, which I had not expected at all. So I'm not really sure what is going on.”
I explained when and where Dad was born and within 20 minutes Jessica wrote to say, “Just glancing quickly through internet records, it looks like my dad's father, Philip, was born on September 24, 1913, so you may well be on to something.” She later confirmed that her grandfather was actually born a day earlier, just like Dad. Her grandfather’s name was on my list of “suspects”, but his surname was misspelled!
It was late at night when we finally emailed our “good nights”. Sleep was impossible, making the wait until morning, and sharing of the joyous news, sheer agony.
We received email photographs of our grandparents the following afternoon. What an incredible feeling it was to look at old snapshots and see those familiar, smiling, faces. There was Dad’s hairline, his nose, his ears, and eyes on his father. Dad’s mother graced him with her marvelous facial bone structure. There is no denying — we’re related.
Our wonderful Jewish DNA cousins constructed our family tree within hours. With a real tree, my closest DNA match at Ancestry found we share the same 2X great grandparents and, today, the DNA test on Jessica’s Jewish grand aunt — my presumed 1st cousin — confirms we ARE indeed first cousins! Dad really was switched at birth!
And now our Irish family is Jewish. Our "Swap Cousins" are Irish and are trying to adjust to this shocking news. We’re all hungry to learn about each other's family and how to intertwine the two families, Irish and Jewish, into one tree.
Despite all our careful planning and matching of cousins, our final success is attributable to a one-in-a-million, unpredicted match. I’m not a particularly religious person, but the inexplicable events that lead us on this remarkable odyssey, and its unexpected and spectacular conclusion, are sure having an effect on my belief system!
Three years ago I blithely took a DNA test at AncestryDNA. At the time, the fact that it was in beta, somewhat alleviated my concern when I first saw my results. I was three quarters Irish with the remainder being a English/Scottish mix, but the test claimed I was half Jewish. It was as if half my ancestry was wrong. The results had to be wrong! I was expecting to see Mc and Mac relatives, but the names were overwhelming Eastern European, Russian, and Jewish. I can assure you, they weren't any of my relatives, or were they?
 |
| Alice's Unexpected Ethnicity Estimate |
I have six siblings strewn all over the United States. By chance, two brothers visited within days of my receiving the perplexing DNA report. Their reactions ranged from finding the Jewish component mildly interesting, but wrong, to outright ridicule. How could I ever imagine we were anything but Irish, they asked? Nothing makes me take an opposite position faster than being mocked. I defended the test, even as I harbored huge doubts. Looking at the family trees of my matches became a daily endeavor and I wondered, could I really be related to these people?
I called my only sister, Gerry, and shared the disturbing results. Her immediate and intense reaction was that the DNA test was correct. Gerry thought it just felt right. I had conducted some research on genetic testing companies so when Gerry decided to test, I recommended 23andMe where I knew we'd have direct access to our genomes. I also retested at 23andMe.
Waiting on the second round of testing gave me time to imagine incredible scenarios, most notably, "I was adopted" and "Mom had an affair"! Gerry laughingly dismissed those notions by reminding me of how much we all resemble Dad. Everyone in the family has Dad's distinctive eyes and I certainly have his flat feet and massive bones. Nevertheless, it was a real relief when the first thing I saw in my DNA family list was a nephew with the proper relationship. Shortly thereafter, Gerry's results were posted. We were full sisters and both half Ashkenazi! Another brother casually mentioned he also tested at 23andMe. His profile was neither public nor had he even looked at his ancestry composition. We quickly shared genomes and it was three for three.
To be on the safe side, I sent a copy of my genome to Doug McDonald, a retired professor at the University of Illinois, noted for calculating accurate ancestry admixtures. His analysis was quite pointed. "It can't be any clearer. One of your parents is Jewish."
 |
| 23andMe's Ancestry Composition Feature Shows Fully Jewish Chromosomes for One Parent |
Now that the Ashkenazi component was verified, the question of which parent remained. Our prime suspect was Dad. Mom had an extremely well documented family tree, but more importantly, we personally knew many of her huge extended family and they were definitely not Jewish. We had pictures of Mom's family extending back over a hundred years. Dad's parents died while he was young, and kin did not raise him.
So together, my sister and I worked out a plan where we would test first cousins from both sides of the family. Our cousins are considerably older than us and we were concerned they wouldn't be open to DNA testing. We were pleasantly surprised when they eagerly agreed to spit for us. Their one request was that their identities be kept private.
We also asked our brother, Jim, to take a Y-DNA test through National Geographic. His test came back, indicating his genotype is the predominate type in southern Ireland where our grandfather was born. Almost as a footnote, it was mentioned that a small number of Ashkenazi Jews shared the genotype.
23andMe has a facility called Countries of Ancestry that displays areas on a person's chromosomes that are associated with Ashkenazi Jews. Those areas are displayed in blue, the rest in white. Once again, I found myself staring at a computer screen trying to make sense of what I was seeing. I kept flipping back and forth between the chromosomes of Bill, Gerry and myself, when suddenly I had a "Eureka!" moment. Males inherit their X-chromosome exclusively from their mothers while females get one allele from their mother and the other from their father. Blue permeated each and every single chromosome for Gerry and me, but there wasn't a single dot of blue on our Bill's X-chromosome. Dad was Jewish!
 |
| Alice's X-chromosomes show Jewish DNA |
 |
| Bill's X-chromosome shows no Jewish DNA |
Armed with the knowledge that the Ashkenazi genes came from Dad, Gerry and I made a friendly bet. I wagered that our paternal cousin would also be Jewish. My sister was just as sure he wouldn't be related to us. She had come to the seemingly ludicrous conclusion that "Dad was switched at birth!"
More waiting provided time to research Dad's parents; after all, they could have been Irish Jews or Jews that assumed Irish persona so they could more easily enter the United States. Now that everything is on the Internet, it was relatively easy to verify that our grandparents came from Irish Catholic families, marrying into other Irish Catholic families, for quite some time. There was no hint that they were anything other than Irish.
It was almost as Loki, the trickster, was having fun with us. One cousin's kit had the correct address on it, but it was delivered it to the wrong address and the person just kept it, unopened. The other cousin's saliva didn't yield sufficient DNA and had to be reprocessed. At last the results arrived.
Mom's nephew was almost classic 1st cousin match. I went cold when I ran the comparison for Dad's nephew. None of us had any genetic relationship with him, whatsoever. He was as Irish as we were Jewish! I lost the bet with Gerry, but more importantly, was left with the unenviable task of telling our beloved cousin that we weren't genetically related.
The family was stunned. Our brothers were no longer laughing. My sister and I swung into high gear to find our biological grandparents.
The big question was how could Dad become separated from his family. In 1913, most women had home births, but Dad's birth certificate clearly states he was born in a hospital. Even today, with high-tech monitoring, occasionally babies are misidentified. Imagine a hospital that has just started delivering babies and didn't foresee mix-ups, much less DNA. We knew when and where the other baby was born so we turned to The New York City Birth Index, in which we identified thirty male infants born in the Bronx within a day of Dad.
Our untested brothers dutifully spit into test tubes so we'd have a better chance of finding a match. Then, all our genomes were transferred to Family Tree DNA and GedMatch to widen our dragnet. Although Jim already took a Y-DNA test, it only reported on 12 markers; far too few for genealogical purposes. Bill volunteered to take the more expensive, but much more accurate, "111-marker Y-DNA" test at FTDNA. Although Bill had the same genotype as Jim, his matches were with Ashkenazi men of Eastern European ancestry, with the notable exception of an Irish man with our surname! We choose to discount the Irish match as being a NPE after talking with the family. Bill had a single "extremely significant" match that predicts a common ancestor within 4 generations. We were hopeful and dared wonder, "Had we found our father's true surname?" Unfortunately, autosomal DNA tests indicated a more distant relationship.
It was suggested that what we should look for a Jewish baby with a surname similar to ours. In fact, there was a male infant with a very close, but distinctively Jewish, surname. Thanks to a birth announcement in the NY Times we were able to trace the family into the present. DNA testing showed he couldn't be the Irish child. Our hopes for a quick and easy resolution were crushed.
Thus began the tedious work of the next two and a half years. On behalf of the family, Gerry and I sent out over a thousand invitations to share genomes at 23andMe. We also contacted many of our approximately 3,000 DNA cousins (each, for a collective total of 7,000 unique cousins) at FTDNA. The overwhelming majority of DNA cousins never responded, a few hurt our feelings by refusing to even speak to us, but enough accepted to build an excellent search base. A few of our Jewish DNA cousins have become fast friends and marvelous co-researchers.
As more and more match data accumulated, it became obvious to Jim, that the spreadsheets we used were unwieldy. Jim used his skills as a developer to create an iPad application, DNAMatch, which easily and efficiently managed the 300,000 plus overlap segments our large family has generated. Real analysis was finally possible.
 |
| Jim's DNAMatch Automated Spreadsheet Feature |
We had massive amounts of information on the location and surnames of our DNA cousins and were able to make some predictions. Minsk, Vilna and Ukraine were clearly geographic "hot spots", yet some of our closest matches traced their families to Romania. Many were related to us on both sides of their families. While the majority of our contacts knew their ancestors came from Russia, they weren't sure of the town or even the name of the current country. Ancestral surnames changed at a dizzying pace or they simply didn't exist. I hate to admit I was getting depressed over the probability of finding our grandparents, but...
Dad's Irish nephew has always been supportive of our quest and I provide him with updates. His 23andMe DNA Relatives list doesn't change frequently, so I'd fallen into the habit of checking his matches monthly instead of daily. In the middle of my most current update, rather than report a lack of progress, I stopped and signed on to his profile. OMG! OMG! There, right below his name, was an anonymous woman listed as a second cousin. In my heart-of-hearts, I knew she was the key. With my heart pounding and my hands shaking, I wrote her a personalized invitation, explaining that I managed my cousin’s account. Would she would compare genomes with him to help me solve a 100-year-old mystery concerning my father.
When she accepted, I wrote, “Thank you for responding so quickly. P N [his posted name] is helping me discover who my real grandparents were. Theoretically, we are first cousins, but I found out, through a DNA test that my Irish father is, in fact, fully Ashkenazi Jewish. We tested all our first cousins and he doesn't match my family at all, which is impossible if we were genetic first cousins. Every expert that has looked at the evidence is convinced, as are we, that Dad was accidentally switched at birth with the Irish child.”
Jessica, the young woman, in turn responded, “I was actually expecting to be much more Ashkenazi than I am. My father died when I was very young, but I was always told that both his parents were descended from Eastern European Jews. Through this test I've found that I am only about 2% Ashkenazi and that I am actually Irish, which I had not expected at all. So I'm not really sure what is going on.”
I explained when and where Dad was born and within 20 minutes Jessica wrote to say, “Just glancing quickly through internet records, it looks like my dad's father, Philip, was born on September 24, 1913, so you may well be on to something.” She later confirmed that her grandfather was actually born a day earlier, just like Dad. Her grandfather’s name was on my list of “suspects”, but his surname was misspelled!
It was late at night when we finally emailed our “good nights”. Sleep was impossible, making the wait until morning, and sharing of the joyous news, sheer agony.
We received email photographs of our grandparents the following afternoon. What an incredible feeling it was to look at old snapshots and see those familiar, smiling, faces. There was Dad’s hairline, his nose, his ears, and eyes on his father. Dad’s mother graced him with her marvelous facial bone structure. There is no denying — we’re related.
 |
| Alice's parents on their wedding day |
 |
| Alice's newly discovered biological grandparents Sam and Ida |
 |
| Alice's father |
Our wonderful Jewish DNA cousins constructed our family tree within hours. With a real tree, my closest DNA match at Ancestry found we share the same 2X great grandparents and, today, the DNA test on Jessica’s Jewish grand aunt — my presumed 1st cousin — confirms we ARE indeed first cousins! Dad really was switched at birth!
 |
| Matching DNA between Alice and her new first cousin plus four of Alice's siblings |
And now our Irish family is Jewish. Our "Swap Cousins" are Irish and are trying to adjust to this shocking news. We’re all hungry to learn about each other's family and how to intertwine the two families, Irish and Jewish, into one tree.
Despite all our careful planning and matching of cousins, our final success is attributable to a one-in-a-million, unpredicted match. I’m not a particularly religious person, but the inexplicable events that lead us on this remarkable odyssey, and its unexpected and spectacular conclusion, are sure having an effect on my belief system!
Wednesday, December 3, 2014
The Folly of Using Small Segments as Proof in Genealogical Research
Responsible genealogists adhere to high standards of proof in their research, in the evidence that they present and in the conclusions they reach. I strongly believe that genetic genealogists should as well. When we make claims that are not supported by sound science, then we undermine the credibility of our field.
Experience has demonstrated to me that there is great folly in claiming small segments can be used as proof (yes, even supporting) in genealogical research. When I use the term "small segments" in this article, I am referring to unphased "matching" segments under 5 centiMorgans and I am addressing their use in matching, not admixture. A few genetic genealogists have argued that there are certain instances when small segments are not only helpful in our genealogical research, but reliable. I strongly disagree.
One of the many problems with utilizing small segments is that, in general, people tend to see evidence that supports their theories and reject evidence that does not. Because the nature of small segments is so random, as I will demonstrate, it is possible that an individual will see patterns where none exist in reality, such as in a cluster of tiny, meaningless "matching" segments. This also holds true for admixture analysis.
Blaine Bettinger already wrote a great blog post explaining the work that has already been done on this issue along with some of his own comparisons, so I am going to concentrate on the multi-generational data to which I have access. Angie Bush has kindly allowed me access to her family's extensive data while she is unable to collaborate on this post since she is on a genealogy cruise. (Thanks, Angie!)
All of these examples are the first ones I looked at, so they are randomly chosen and not selected with bias. There is a huge amount of analysis that can still be performed on this data set. Since Gedmatch was down when I wrote this, I concentrated on Family Tree DNA data. When I am able to access Gedmatch again, I will add to my analysis.
First let's look at this simple chart of my data compared to James, a confirmed paternal fourth cousin, and then my father's data compared to that same cousin. As you can see, both my father and I have one substantial matching segment with James on Chromosome 4 (in purple). Some would argue that because we have one longer matching segment, that this makes the matching small segments reported more valid and thus can be more responsibly attributed to our known common ancestor.
Notice the segments highlighted in red in my chart. Those are all segments that were reported to be matching between me and James that do not show up as matches with my father. So, right off the bat, we can eliminate eight segments of what some might claim is supporting evidence of the known relationship with James. That is 66.6% of the segments under 5 cM, which is in line with what was found in the 23andMe study.
Since I have no reason to believe that I inherited those segments from my mother, they are likely pseudo-segments. Pseudo-segments are spliced together by jumping between alleles from mom and dad, impersonating a matching stretch of DNA where one does not exist. The inability to distinguish these from authentic matching segments is a limitation of our current technology. Could they have actually come from my mother, you might be asking? My mother does not match James at the Family Tree DNA thresholds and I can't check Gedmatch to be sure, but there are no known common origins between them. (I am checking with James to see if he is willing to allow me to make that comparison for my next post.) Regardless, this analysis clearly disproves that the red segments are a result of the known paternal relationship. As such, there should be no argument to the conclusion that the majority of the small segments in this randomly chosen example cannot function as supporting evidence of the primary relationship in any way.
Next, look at the green segments. In this case, it appears that I inherited those from my father, but if you look closely, they are actually longer for me than for my father. This means that they are at least, partially, false positives or pseudo-segments. Incidentally, the one substantial matching segment we have in common (purple) is also reported to be a bit longer for me than for my father, which illustrates that it is questionable to rely too heavily on what appear to be exact assignments. In my list of matching segments, only the pink segments on chromosomes 2 and 3 are left as potentially fully IBD segments. Some will say that the fact that they persist from parent to child makes them more reliable indicators of a genealogical relationship. Perhaps, but there is no proof that that the pink segments weren't originally pseudo-segments interpreted as a match by the technology in my father's data and then passed to me through recombination of his two chromosomes. Does that sound far-fetched? Well let's see by looking at multi-generational data.
Please bear with me because this is going to take awhile. This chart is the matching DNA between Brynne and a known Bush cousin from her mother's father's father's branch of the family. The common ancestors are Frederick Bush and Martha White, so you can see that the expected path of inheritance for matching DNA between Brynne and this cousin is:
Brynne >> Angie >> Grandpa >> Great Grandpa
Here we are looking at the threshold set at 5 cM. Brynne's data compared to the Bush cousin is on the left and the comparison of her mother Angie to this same cousin is on the right.
This is her grandfather's (left) and great grandfather's (right) DNA compared to the same cousin.
These are nicely consistent with all of Brynne's matching segments being inherited from her great grandfather, as would be expected.
Now, let's look at the same comparisons with the threshold lowered to 1 centiMorgan.
Brynne and Angie:
Grandfather and great grandfather:
As you can see things got very messy at this level. We have all kinds of problems and inconsistencies with the data now. Let's look at just a few.
Chromosome 11:
As you can see Brynne has three small segments (under 5 cM) in common with her known Bush cousin on Chromosome 11. One is lost as we move to her mother Angie's comparison, but two persist. So, if the theory is correct that when a small segment persists over two generations that it is more likely to be identical by descent or attributable to the known common ancestor, then the two remaining ones should be IBD. However, look what happens - another is lost when we move the next generation back in time toward the common ancestor with the known cousin and then finally all three have disappeared by the time we get to the great grandfather. This is the opposite of what we should be seeing. Could these last two segments be attributable to another common ancestor on Brynne's grandmother's and great grandmother's branches of her tree? Possibly, but if so, that still doesn't support the claim that small segments help to prove the primary relationship responsible for the large matching segments. In fact, it refutes it because it demonstrates that even in families with no known pedigree collapse, such as this one, there still may be small segments inherited from distant common ancestors.
We saw other problems too. In some cases, like on Chromosomes 3 and 6, segments disappear at one generation and seemingly reappear at the next. That tells us one of two things - that coincidences happen and/or that the technology is not reliably picking up these small segments consistently. Either scenario does not instill confidence in genealogical conclusions based on small segment analysis.
Chromosome 3: Grandpa was "skipped" and the segment was almost three times larger in the most recent generation which is opposite of what we would expect to see if it was identical by descent.
Chromosome 6: Mom was "skipped". Notice the high number of SNPs (again many more in the most recent generation), which makes it seem less likely that it was simply missed by the technology.
These examples lend credence to the myth that DNA can skip a generation, which we all know to be untrue.
Most importantly, in this entire comparison, NOT ONE of Brynne's small segments shared with her known Bush cousin persisted consistently through all four generations on the path back to the known common ancestor.
When going through this data, I saw so many examples that fly in the face of the belief that small segments can, in any way, be reliable indicators of a genealogical relationship that I couldn't even begin to cover them all here. Since Gedmatch was down while I was writing this, I was unable to do some of the comparisons I had planned, so perhaps I will do that at a later time.
In the meantime, since I read a lot of comments over the last few days that people feel comfortable mapping small segments to their known ancestors using comparisons of their close relatives, I decided to see if that, at least, could stand up to analysis. Let's look at Brynne compared to her maternal grandparents.
We can see her DNA mapped to her grandfather in orange and her grandmother in blue. It is quite clean at the 5 cM threshold on the left with almost no overlap as we would expect, however when you drop the threshold to 1 cM, you can start to see issues on the right. Look at Chromosome 1, for example. There are three small segments from the grandparents that are directly in opposition to the obvious inheritance pattern. You can also see it on chromosomes 3, 5, 6, 10, 12 and 14 (click image to enlarge). If you only had one of the grandparents tested, you would map those small segments to the wrong grandparent and, thus, be "barking up the wrong" branch of the tree.
Let's look more closely at Brynne's Chromosome 14 and the inheritance from her maternal grandparents through to her great grandfather Bush.
The pink in the image below is the comparison with her mother, Angie. Of course, they share across the length of the chromosome. Then, you can see, in green, the DNA she shares with her maternal grandfather and, in blue, the DNA she shares with her great grandfather from the same line. It appears that she has one long segment from her grandfather and then one small one that she inherited from her great grandfather through her grandfather. You would feel pretty safe mapping that small blue/green segment to her great grandfather, right? There is only one problem...the orange is the DNA she inherited from her maternal grandmother! That small segment falls right where the DNA she inherited from her mother came from her maternal grandmother, not her grandfather! She couldn't have inherited DNA from both her maternal grandmother and her maternal grandfather on that spot, so the small segment must be a false positive even though it persisted over multiple generations.
You can see similar problems on Chromosome 1, 5 and 6.
Remember she can't inherit DNA in the same spot from both grandma and grandpa.
All three of these chromosomes show small segments that fall in sections inherited from the opposite side of the family, proving they are false positives. Look at the colorful pile-up on Chromosome 6. Some of these segments are almost 5 cM!
There is so much more to say about the use of small segments in genealogical research and a huge amount of data to explore, but I will stop here for today. I think that these few examples should give any genetic genealogist who believes that small segments can, in any way, support genealogical theories serious pause for thought.
In a later article, we will examine the assertion that small segments can prove useful as "population specific" guides and if there is any support for the recent ancient genome comparison analysis. The fact that these segments are not consistently inherited certainly calls that type of analysis into question as well.
I encourage those of you with access to multi-generational data to perform a similar analysis and let us know what you find. The more data, the better!
[Note: In the future, I believe that we will be able to utilize smaller segments in our research and even assign them to specific ancestors through chromosome mapping, but this will only be possible when technology has advanced considerably and we are using higher resolution autosomal DNA testing and much improved phasing engines. The exception is Tim Janzen who is attempting to do so now through highly technical and advanced work. He is phasing his data through testing and comparison of large numbers of known relatives, many more than the vast majority of genealogists will ever test. To my knowledge, he has never claimed to have used small segments to break down any genealogical brick walls or to have proven anything in that regard, even as supporting evidence.]
Experience has demonstrated to me that there is great folly in claiming small segments can be used as proof (yes, even supporting) in genealogical research. When I use the term "small segments" in this article, I am referring to unphased "matching" segments under 5 centiMorgans and I am addressing their use in matching, not admixture. A few genetic genealogists have argued that there are certain instances when small segments are not only helpful in our genealogical research, but reliable. I strongly disagree.
One of the many problems with utilizing small segments is that, in general, people tend to see evidence that supports their theories and reject evidence that does not. Because the nature of small segments is so random, as I will demonstrate, it is possible that an individual will see patterns where none exist in reality, such as in a cluster of tiny, meaningless "matching" segments. This also holds true for admixture analysis.
Blaine Bettinger already wrote a great blog post explaining the work that has already been done on this issue along with some of his own comparisons, so I am going to concentrate on the multi-generational data to which I have access. Angie Bush has kindly allowed me access to her family's extensive data while she is unable to collaborate on this post since she is on a genealogy cruise. (Thanks, Angie!)
All of these examples are the first ones I looked at, so they are randomly chosen and not selected with bias. There is a huge amount of analysis that can still be performed on this data set. Since Gedmatch was down when I wrote this, I concentrated on Family Tree DNA data. When I am able to access Gedmatch again, I will add to my analysis.
First let's look at this simple chart of my data compared to James, a confirmed paternal fourth cousin, and then my father's data compared to that same cousin. As you can see, both my father and I have one substantial matching segment with James on Chromosome 4 (in purple). Some would argue that because we have one longer matching segment, that this makes the matching small segments reported more valid and thus can be more responsibly attributed to our known common ancestor.
Notice the segments highlighted in red in my chart. Those are all segments that were reported to be matching between me and James that do not show up as matches with my father. So, right off the bat, we can eliminate eight segments of what some might claim is supporting evidence of the known relationship with James. That is 66.6% of the segments under 5 cM, which is in line with what was found in the 23andMe study.
Since I have no reason to believe that I inherited those segments from my mother, they are likely pseudo-segments. Pseudo-segments are spliced together by jumping between alleles from mom and dad, impersonating a matching stretch of DNA where one does not exist. The inability to distinguish these from authentic matching segments is a limitation of our current technology. Could they have actually come from my mother, you might be asking? My mother does not match James at the Family Tree DNA thresholds and I can't check Gedmatch to be sure, but there are no known common origins between them. (I am checking with James to see if he is willing to allow me to make that comparison for my next post.) Regardless, this analysis clearly disproves that the red segments are a result of the known paternal relationship. As such, there should be no argument to the conclusion that the majority of the small segments in this randomly chosen example cannot function as supporting evidence of the primary relationship in any way.
Next, look at the green segments. In this case, it appears that I inherited those from my father, but if you look closely, they are actually longer for me than for my father. This means that they are at least, partially, false positives or pseudo-segments. Incidentally, the one substantial matching segment we have in common (purple) is also reported to be a bit longer for me than for my father, which illustrates that it is questionable to rely too heavily on what appear to be exact assignments. In my list of matching segments, only the pink segments on chromosomes 2 and 3 are left as potentially fully IBD segments. Some will say that the fact that they persist from parent to child makes them more reliable indicators of a genealogical relationship. Perhaps, but there is no proof that that the pink segments weren't originally pseudo-segments interpreted as a match by the technology in my father's data and then passed to me through recombination of his two chromosomes. Does that sound far-fetched? Well let's see by looking at multi-generational data.
Please bear with me because this is going to take awhile. This chart is the matching DNA between Brynne and a known Bush cousin from her mother's father's father's branch of the family. The common ancestors are Frederick Bush and Martha White, so you can see that the expected path of inheritance for matching DNA between Brynne and this cousin is:
Brynne >> Angie >> Grandpa >> Great Grandpa
Here we are looking at the threshold set at 5 cM. Brynne's data compared to the Bush cousin is on the left and the comparison of her mother Angie to this same cousin is on the right.
This is her grandfather's (left) and great grandfather's (right) DNA compared to the same cousin.
These are nicely consistent with all of Brynne's matching segments being inherited from her great grandfather, as would be expected.
Now, let's look at the same comparisons with the threshold lowered to 1 centiMorgan.
Brynne and Angie:
Grandfather and great grandfather:
As you can see things got very messy at this level. We have all kinds of problems and inconsistencies with the data now. Let's look at just a few.
Chromosome 11:
As you can see Brynne has three small segments (under 5 cM) in common with her known Bush cousin on Chromosome 11. One is lost as we move to her mother Angie's comparison, but two persist. So, if the theory is correct that when a small segment persists over two generations that it is more likely to be identical by descent or attributable to the known common ancestor, then the two remaining ones should be IBD. However, look what happens - another is lost when we move the next generation back in time toward the common ancestor with the known cousin and then finally all three have disappeared by the time we get to the great grandfather. This is the opposite of what we should be seeing. Could these last two segments be attributable to another common ancestor on Brynne's grandmother's and great grandmother's branches of her tree? Possibly, but if so, that still doesn't support the claim that small segments help to prove the primary relationship responsible for the large matching segments. In fact, it refutes it because it demonstrates that even in families with no known pedigree collapse, such as this one, there still may be small segments inherited from distant common ancestors.
We saw other problems too. In some cases, like on Chromosomes 3 and 6, segments disappear at one generation and seemingly reappear at the next. That tells us one of two things - that coincidences happen and/or that the technology is not reliably picking up these small segments consistently. Either scenario does not instill confidence in genealogical conclusions based on small segment analysis.
Chromosome 3: Grandpa was "skipped" and the segment was almost three times larger in the most recent generation which is opposite of what we would expect to see if it was identical by descent.
Chromosome 6: Mom was "skipped". Notice the high number of SNPs (again many more in the most recent generation), which makes it seem less likely that it was simply missed by the technology.
These examples lend credence to the myth that DNA can skip a generation, which we all know to be untrue.
Most importantly, in this entire comparison, NOT ONE of Brynne's small segments shared with her known Bush cousin persisted consistently through all four generations on the path back to the known common ancestor.
When going through this data, I saw so many examples that fly in the face of the belief that small segments can, in any way, be reliable indicators of a genealogical relationship that I couldn't even begin to cover them all here. Since Gedmatch was down while I was writing this, I was unable to do some of the comparisons I had planned, so perhaps I will do that at a later time.
In the meantime, since I read a lot of comments over the last few days that people feel comfortable mapping small segments to their known ancestors using comparisons of their close relatives, I decided to see if that, at least, could stand up to analysis. Let's look at Brynne compared to her maternal grandparents.
We can see her DNA mapped to her grandfather in orange and her grandmother in blue. It is quite clean at the 5 cM threshold on the left with almost no overlap as we would expect, however when you drop the threshold to 1 cM, you can start to see issues on the right. Look at Chromosome 1, for example. There are three small segments from the grandparents that are directly in opposition to the obvious inheritance pattern. You can also see it on chromosomes 3, 5, 6, 10, 12 and 14 (click image to enlarge). If you only had one of the grandparents tested, you would map those small segments to the wrong grandparent and, thus, be "barking up the wrong" branch of the tree.
 |
| Brynne's DNA mapped to her maternal grandparents |
Let's look more closely at Brynne's Chromosome 14 and the inheritance from her maternal grandparents through to her great grandfather Bush.
You can see similar problems on Chromosome 1, 5 and 6.
Remember she can't inherit DNA in the same spot from both grandma and grandpa.
 |
| Pink - mother, green = grandfather, blue = great grandfather (father of grandfather), orange = grandmother. |
All three of these chromosomes show small segments that fall in sections inherited from the opposite side of the family, proving they are false positives. Look at the colorful pile-up on Chromosome 6. Some of these segments are almost 5 cM!
There is so much more to say about the use of small segments in genealogical research and a huge amount of data to explore, but I will stop here for today. I think that these few examples should give any genetic genealogist who believes that small segments can, in any way, support genealogical theories serious pause for thought.
In a later article, we will examine the assertion that small segments can prove useful as "population specific" guides and if there is any support for the recent ancient genome comparison analysis. The fact that these segments are not consistently inherited certainly calls that type of analysis into question as well.
I encourage those of you with access to multi-generational data to perform a similar analysis and let us know what you find. The more data, the better!
[Note: In the future, I believe that we will be able to utilize smaller segments in our research and even assign them to specific ancestors through chromosome mapping, but this will only be possible when technology has advanced considerably and we are using higher resolution autosomal DNA testing and much improved phasing engines. The exception is Tim Janzen who is attempting to do so now through highly technical and advanced work. He is phasing his data through testing and comparison of large numbers of known relatives, many more than the vast majority of genealogists will ever test. To my knowledge, he has never claimed to have used small segments to break down any genealogical brick walls or to have proven anything in that regard, even as supporting evidence.]
Saturday, August 2, 2014
Countdown to the I4GG International Genetic Genealogy Conference 2014
A quick reminder about the upcoming i4gg.org conference
(a not-for-profit event).
This is truly a unique opportunity to personally meet with - and learn from - some of the world's leading Genetic Genealogy experts who, for the first time ever, will appear under ONE roof at the first International Genetic Genealogy Conference scheduled for Friday, August 15th through August 17th.
MEET THESE WORLD RENOWNED GENETIC GENEALOGY EXPERTS:
Dr. Spencer Wells - The Genographic Project (keynote)
Joanna Mountain - 23andMe
Julie Granka - AncestryDNA
Razib Khan for Family Tree DNA
Razib Khan for Family Tree DNA
Judy Russell
David Pike
CeCe Moore
Maurice Gleeson
Tim Janzen
Jim Bartlett
Terry Barton
Blaine Bettinger
Angie Bush
Rebekah Canada
Shannon Christmas
Karin Corbeil
Diane Herman Hoog
Katherine Hope Borges
Bill Hurst
Kathy Johnston
Thomas Krahn
Greg Magoon
Doug McDonald
Ugo Perego
Bonnie Schrack
Larry Vick
Rob Warthen
Debbie Parker Wayne
William Howard
The fabulous Judy Russell, Julie Granka, Greg Magoon, William Howard and Razib Khan were all added to the schedule since I last wrote about the conference.
Take a minute to check out this video for a quick overview:
There is something for everyone - all levels of experience are encouraged to attend. Expert or novice - you'll take away a world of knowledge from the i4gg.org International Genetic Genealogy Conference August 15-17 at the National Youth Conference Center in Washington DC!
Don't miss this opportunity to learn from the best! Go to i4gg.org and register today - there are still tickets available.
Sponsored by the Institute for Genetic Genealogy. THIS IS A NOT-FOR-PROFIT EVENT for the advancement of genetic genealogy.
Hope to see you there!
Sunday, May 25, 2014
Upcoming Events and Why I Have Been Too Busy to Blog
I'm sorry that I haven't had time to blog much lately, but I wanted to share a few of my activities with readers of YGG, so you will know that I have not deserted you. I am presently working as a genetic genealogy consultant and educator more than full time. Here are some of the things that are going on with me that you might be interested in:
23andMe Google+ Hangout Video
On Thursday, I participated in a Google+ Hangout with 23andMe. It begins with my presentation, a very basic 30 minute walk-through of the 23andMe Ancestry features, followed by a 30 minute question/answer discussion with Ancestry Product Manager, Laurie Kahn, Christine Moschella from Customer Care and me. You can watch the video below, but I recommend viewing it directly on YouTube (by clicking the YouTube logo at the bottom right of the screen) and watching it full screen to see the details on my slides. This video was intended for beginners, but the later discussion may be of interest to others. (I should probably thank CJ Swenson of 23andMe for bearing with my schedule limitations while trying to get this on the calendar for several months!)
World Science Festival in NYC - May 29
This upcoming week I will be participating in the World Science Festival in New York City as part of an exciting panel discussion entitled "It's All Relatives: The Science of Your Family Tree" with Genomic Scientist Catherine Ball of AncestryDNA, Geneticist/Anthropologist Mark D. Shriver, Geneticist/Anthropologist Brenna Henn and moderated by Broadcast Journalist Randall Pinkston. The event will be hosted by Louise Mirrer, CEO and President of the New-York Historical Society.
Researching the farthest branches of your family tree is now faster, cheaper, more accessible and more accurate than ever before. Today you can find distant living relatives, learn how you are related to important historical figures or discover how your ancestors participated in major movements in human history. And, using advanced technologies to analyze face structure and skin pigmentation, evolutionary geneticists can determine what your ancestors actually looked like. Join a conversation among leading researchers about how gains in computational power, together with technological innovations, are allowing scientists to come ever closer to understanding how we are all connected.
"It's All Relatives" will be held at the New-York Historical Society on Thursday, May 29th at 6:00 pm. Further information can be found and tickets purchased here.
Harper's Magazine June Issue
The lead story in this month's Harper's Magazine is "America's Ancestry Craze: Making Sense of America's Family Tree Obsession" by Maud Newton. It includes some details of my work excerpted from extensive discussions with the very talented author (and genealogist) last year. Maud will be following up with a book published by Random House to further investigate this subject that is near and dear to many of our hearts. The magazine can be found at select newsstands and is available to subscribers online.
Finding Your Roots with Henry Louis Gates, Jr - Season Two
We are finally close to wrapping up the interviews for season two of the PBS series "Finding Your Roots with Henry Louis Gates, Jr." The season will begin to air Tuesday, September 23 and will include interviews with Ben Affleck, Sally Field, Derek Jeter, Deepak Chopra, Tina Fey, Valerie Jarrett, Carole King, Tony Kushner, Ken Burns, Angela Bassett, Alan Dershowitz, Ming Tsai, Aaron Sanchez, Tom Colicchio, Rebecca Lobo, Nas Jones, Billie Jean King, Stephen King, Courtney Vance and several others. This has been a huge undertaking for me since I am the only genetic genealogist working on the show and I analyze the results of all of the guests across three companies (AncestryDNA, 23andMe and Family Tree DNA). This upcoming month will be my year anniversary working with Professor Gates on the show and his personal genetic genealogy. It sure went by fast (even though I didn't get much sleep)!
SCGS Jamboree and DNA Day
SCGS Jamboree is fast approaching where I will be giving three presentations and participating in one panel discussion. My first presentation on Thursday June 5th at 10:00 am will be live streamed, "Real Life Cases from the Desk of a DNA Genealogy Detective". There will be many genetic genealogists presenting both on Thursday and throughout the rest of the conference weekend. Here is my schedule:
DNA Thursday
TH003 - Thursday 10:00 a.m. to 11:00 a.m. "Real World Stories from the Desk of a DNA Detective." DNA testing is revealing unexpected surprises in the trees of many genealogists, involving both immediate and more distant ancestors. These surprises often lead to fascinating stories that could never have been unearthed without DNA and this new-found knowledge has taught us that our family trees on paper may not always be the same as our true genetic genealogy. After learning of its potential to reveal and unravel complex family relationships, many are flocking to DNA testing to solve their own family mysteries. Actual cases from the presenter’s own files will be shared.
TH017 - Thursday 3:30 p.m. to 4:30 p.m. "Autosomal DNA: Discovering Your Ancestors in You." As genealogists, we have all invested a significant amount of time and effort searching for information about our ancestors. Rapidly advancing genetic technologies have now made it possible to discover more about our ancestors and in ways we never could have imagined. CeCe will demonstrate the methods that the experts use to get the most out of their results, including chromosome mapping and applications for adoption and African American genealogy. Examples from CeCe's research will be shared to demonstrate the potential for using autosomal DNA to discover more about our ancestors.
Jamboree Weekend
FR019 - Friday 4:00pm - 5:00pm. "Why Should I Take a DNA Test?" This is an introductory presentation for genealogists interested in venturing into DNA testing. It will cover the basics of the three types of DNA testing used for genealogy: Y-DNA, mtDNA and autosomal DNA as well as the pros and cons of the major companies offering services to the genealogy community. Come learn about the potential of DNA testing for opening doors and breaking down brick walls in your genealogy!
SA049 - Saturday 5:00pm - 6:00 pm. ISOGG Panel: "Ask the Experts about DNA and Genealogy." This presentation is sponsored by the International Society of Genetic Genealogy (ISOGG). Where are we now? What is the current "state of the art" in relation to each of the major DNA tests? What test tells the percentage of inheritance from different areas of the world? What new tools and utilities will be developed by independent developers? What does the future hold for genetic genealogy? These questions and more will be answered by the experts. Alice Fairhurst, Moderator with panelists: Blaine Bettinger PhD JD, Katherine Borges, Dr. Maurice Gleeson and CeCe Moore. (90 minutes)
GRIPitt "Practical Genetic Genealogy" Course
I am also preparing for the upcoming Genealogical Research Institute of Pittsburgh course in July where I will be teaching with Blaine Bettinger, PhD, JD and Debbie Parker-Wayne, CG (course coordinator). The course sold out mere minutes after registration opened, so the GRIPitt administrators arranged for a second classroom. This will double our teaching load, but will allow many more people to benefit from this intensive, week-long education. Due to its popularity, we will be offering this course again in 2015 (twice).
Institute for Genetic Genealogy Conference
Tim Janzen and I are very happy with how planning is moving along for the I4GG conference. The conference will be held August 15-17 in Washington D.C. and is intended for a wide audience. We will have presentations geared for the beginner all the way through to the advanced genetic genealogist. I have heard quite a few people remark that they aren't advanced enough to attend, so I want to emphasize that everyone is welcome no matter what experience level they have with genetic genealogy. In addition to the more basic presentations like mine "The Four Types of DNA Used in Genetic Genealogy" (title subject to change), there will be workshops presented by both 23andMe and Family Tree DNA on Friday (AncestryDNA has also been invited to host a workshop). These workshops will undoubtedly be of great benefit to the less experienced attendees. I will be posting more updates about this conference in the next day or so.
SLIG Genetic Genealogy Courses
Angie Bush and I will be co-coordinating the "Advanced DNA Analysis Techniques" course for the Salt Lake Institute of Genealogy in January and I will also be teaching in the "Getting Started with Genetic Genealogy" course coordinated by Debbie Parker Wayne, CG. The advanced course has several prerequisites since it is intended for the intermediate to advanced genetic genealogist, but the "Getting Started" course is open to any level.
Registration for both opens on June 14th at 9:00am (Mountain Time).
Working on Various Unknown Parentage Cases
I continue to work on several unknown parentage cases, such as the one involving Paul Fronczak (and others that remain private) with my team(s). These types of cases take a tremendous amount of time and effort, but are well worth it in the long run.
I hope to have the opportunity to catch up with many of you soon!
23andMe Google+ Hangout Video
On Thursday, I participated in a Google+ Hangout with 23andMe. It begins with my presentation, a very basic 30 minute walk-through of the 23andMe Ancestry features, followed by a 30 minute question/answer discussion with Ancestry Product Manager, Laurie Kahn, Christine Moschella from Customer Care and me. You can watch the video below, but I recommend viewing it directly on YouTube (by clicking the YouTube logo at the bottom right of the screen) and watching it full screen to see the details on my slides. This video was intended for beginners, but the later discussion may be of interest to others. (I should probably thank CJ Swenson of 23andMe for bearing with my schedule limitations while trying to get this on the calendar for several months!)
World Science Festival in NYC - May 29
This upcoming week I will be participating in the World Science Festival in New York City as part of an exciting panel discussion entitled "It's All Relatives: The Science of Your Family Tree" with Genomic Scientist Catherine Ball of AncestryDNA, Geneticist/Anthropologist Mark D. Shriver, Geneticist/Anthropologist Brenna Henn and moderated by Broadcast Journalist Randall Pinkston. The event will be hosted by Louise Mirrer, CEO and President of the New-York Historical Society.
Researching the farthest branches of your family tree is now faster, cheaper, more accessible and more accurate than ever before. Today you can find distant living relatives, learn how you are related to important historical figures or discover how your ancestors participated in major movements in human history. And, using advanced technologies to analyze face structure and skin pigmentation, evolutionary geneticists can determine what your ancestors actually looked like. Join a conversation among leading researchers about how gains in computational power, together with technological innovations, are allowing scientists to come ever closer to understanding how we are all connected.
"It's All Relatives" will be held at the New-York Historical Society on Thursday, May 29th at 6:00 pm. Further information can be found and tickets purchased here.
Harper's Magazine June Issue
The lead story in this month's Harper's Magazine is "America's Ancestry Craze: Making Sense of America's Family Tree Obsession" by Maud Newton. It includes some details of my work excerpted from extensive discussions with the very talented author (and genealogist) last year. Maud will be following up with a book published by Random House to further investigate this subject that is near and dear to many of our hearts. The magazine can be found at select newsstands and is available to subscribers online.
Finding Your Roots with Henry Louis Gates, Jr - Season Two
We are finally close to wrapping up the interviews for season two of the PBS series "Finding Your Roots with Henry Louis Gates, Jr." The season will begin to air Tuesday, September 23 and will include interviews with Ben Affleck, Sally Field, Derek Jeter, Deepak Chopra, Tina Fey, Valerie Jarrett, Carole King, Tony Kushner, Ken Burns, Angela Bassett, Alan Dershowitz, Ming Tsai, Aaron Sanchez, Tom Colicchio, Rebecca Lobo, Nas Jones, Billie Jean King, Stephen King, Courtney Vance and several others. This has been a huge undertaking for me since I am the only genetic genealogist working on the show and I analyze the results of all of the guests across three companies (AncestryDNA, 23andMe and Family Tree DNA). This upcoming month will be my year anniversary working with Professor Gates on the show and his personal genetic genealogy. It sure went by fast (even though I didn't get much sleep)!
 |
| Dr. Gates and I, last year's SCGS DNA Day |
SCGS Jamboree and DNA Day
SCGS Jamboree is fast approaching where I will be giving three presentations and participating in one panel discussion. My first presentation on Thursday June 5th at 10:00 am will be live streamed, "Real Life Cases from the Desk of a DNA Genealogy Detective". There will be many genetic genealogists presenting both on Thursday and throughout the rest of the conference weekend. Here is my schedule:
DNA Thursday
TH003 - Thursday 10:00 a.m. to 11:00 a.m. "Real World Stories from the Desk of a DNA Detective." DNA testing is revealing unexpected surprises in the trees of many genealogists, involving both immediate and more distant ancestors. These surprises often lead to fascinating stories that could never have been unearthed without DNA and this new-found knowledge has taught us that our family trees on paper may not always be the same as our true genetic genealogy. After learning of its potential to reveal and unravel complex family relationships, many are flocking to DNA testing to solve their own family mysteries. Actual cases from the presenter’s own files will be shared.
TH017 - Thursday 3:30 p.m. to 4:30 p.m. "Autosomal DNA: Discovering Your Ancestors in You." As genealogists, we have all invested a significant amount of time and effort searching for information about our ancestors. Rapidly advancing genetic technologies have now made it possible to discover more about our ancestors and in ways we never could have imagined. CeCe will demonstrate the methods that the experts use to get the most out of their results, including chromosome mapping and applications for adoption and African American genealogy. Examples from CeCe's research will be shared to demonstrate the potential for using autosomal DNA to discover more about our ancestors.
Jamboree Weekend
FR019 - Friday 4:00pm - 5:00pm. "Why Should I Take a DNA Test?" This is an introductory presentation for genealogists interested in venturing into DNA testing. It will cover the basics of the three types of DNA testing used for genealogy: Y-DNA, mtDNA and autosomal DNA as well as the pros and cons of the major companies offering services to the genealogy community. Come learn about the potential of DNA testing for opening doors and breaking down brick walls in your genealogy!
SA049 - Saturday 5:00pm - 6:00 pm. ISOGG Panel: "Ask the Experts about DNA and Genealogy." This presentation is sponsored by the International Society of Genetic Genealogy (ISOGG). Where are we now? What is the current "state of the art" in relation to each of the major DNA tests? What test tells the percentage of inheritance from different areas of the world? What new tools and utilities will be developed by independent developers? What does the future hold for genetic genealogy? These questions and more will be answered by the experts. Alice Fairhurst, Moderator with panelists: Blaine Bettinger PhD JD, Katherine Borges, Dr. Maurice Gleeson and CeCe Moore. (90 minutes)
GRIPitt "Practical Genetic Genealogy" Course
I am also preparing for the upcoming Genealogical Research Institute of Pittsburgh course in July where I will be teaching with Blaine Bettinger, PhD, JD and Debbie Parker-Wayne, CG (course coordinator). The course sold out mere minutes after registration opened, so the GRIPitt administrators arranged for a second classroom. This will double our teaching load, but will allow many more people to benefit from this intensive, week-long education. Due to its popularity, we will be offering this course again in 2015 (twice).
Institute for Genetic Genealogy Conference
Tim Janzen and I are very happy with how planning is moving along for the I4GG conference. The conference will be held August 15-17 in Washington D.C. and is intended for a wide audience. We will have presentations geared for the beginner all the way through to the advanced genetic genealogist. I have heard quite a few people remark that they aren't advanced enough to attend, so I want to emphasize that everyone is welcome no matter what experience level they have with genetic genealogy. In addition to the more basic presentations like mine "The Four Types of DNA Used in Genetic Genealogy" (title subject to change), there will be workshops presented by both 23andMe and Family Tree DNA on Friday (AncestryDNA has also been invited to host a workshop). These workshops will undoubtedly be of great benefit to the less experienced attendees. I will be posting more updates about this conference in the next day or so.
SLIG Genetic Genealogy Courses
Angie Bush and I will be co-coordinating the "Advanced DNA Analysis Techniques" course for the Salt Lake Institute of Genealogy in January and I will also be teaching in the "Getting Started with Genetic Genealogy" course coordinated by Debbie Parker Wayne, CG. The advanced course has several prerequisites since it is intended for the intermediate to advanced genetic genealogist, but the "Getting Started" course is open to any level.
Registration for both opens on June 14th at 9:00am (Mountain Time).
Working on Various Unknown Parentage Cases
I continue to work on several unknown parentage cases, such as the one involving Paul Fronczak (and others that remain private) with my team(s). These types of cases take a tremendous amount of time and effort, but are well worth it in the long run.
I hope to have the opportunity to catch up with many of you soon!
Thursday, March 27, 2014
Family Tree DNA Announces the March mtDNA Madness Sale - The Benefits of Full Mitochondrial DNA Sequencing
 |
| mtDNA tests are exclusively informative of direct maternal lines (image credit: www.FTDNA.com) |
I just received an email from Family Tree DNA announcing a sale on their mtDNA Full Sequence test, starting tomorrow (copied below). This is their lowest price ever and, fortunately, includes upgrades.
Although mitochondrial DNA is not the first test that I would recommend for a genealogist, in my recent work I have become increasingly interested in full sequence mtDNA testing. The reason for this is that, in some instances, the full sequence allows for geographic specificity, which can potentially open new and valuable avenues of discovery. The lower resolution tests are not often helpful, so if you are going to order a mtDNA test, then the full sequence is the way to go. (With this very reduced price, this is a good time to try it.)
I can't share most of the instances (yet) that it has been useful for my recent research since some were in the course of my work for "Finding Your Roots with Henry Louis Gates, Jr." (scheduled to air Tuesdays starting at the end of September) and others were for private projects, but I can give an example of a situation where mtDNA testing might be helpful for our genealogy research outside of the typically discussed applications.
I have long been brickwalled on my German Stolebarger line and do not know if Sarah (maiden name unknown), the wife of John Stolebarger, was German like her husband. Since my mother's first cousin is a matrilineal descendant of Sarah's, I asked him to take the mtDNA test for me two years ago (HVR1 + HVR2). The only match was with someone who is brickwalled at his ancestor, also named Sarah from the exact same time and place as my Sarah! So, matching didn't help us. I didn't plan to upgrade for matching purposes since there were no other matches and he only tested at the lower resolution.
Recently the mtDNA Haplogroup I Project administrator wrote to me and expressed interest in my cousin's rare mtDNA signature, requesting that I consider upgrading to the full sequence. That got me thinking and, with the great timing of this new offer, I now plan to go ahead and upgrade to see if my cousin's unique mutations can pinpoint a specific geographic region. This may, at least, help to determine if Sarah was German or of completely different ancestral origins. Is it guaranteed to work? No, but I'm ready for the "Hail Mary" play on this one and, anyway, aren't we all accustomed to trying different approaches to our research challenges?
If you have a research question that you think mtDNA testing might help answer* or you are just a DNA testing junkie like me, you can order here. (Prices, starting tomorrow, are listed below.)
Best of luck with all your DNA testing pursuits!
(*If you need help determining if this test is applicable to your research question, you can read about mtDNA basics here.)
Dear Project Administrator,
We will send all customers a sale announcement tomorrow when our March mtDNA Madness sale begins. However, we wanted to give you advanced notice so that you have time to plan.
For four days only we are offering our customers the chance to order or upgrade to the mtDNA full sequence at greatly reduced prices. To take advantage of the outstanding prices below, your project members need to place their orders and pay before 11:59 PM Central Time April 1, 2014.
Savings
- mtDNAFullSequence Add-on and New Kits - Was $199 US Now $139 US
- mtHVR1toMEGA Upgrade - Was $149 US Now $99 US
- mtHVR2toMEGA Upgrade - Was $159 US Now $89 US
Why Get the mtDNA Full Sequence?
- Unlock the full potential of mtDNA testing.
- Enjoy the definitive test for your direct maternal line.
- Compare to others at the highest mtDNA testing level.
Monday, February 24, 2014
Announcing the 2014 Institute for Genetic Genealogy Conference
The Institute for Genetic Genealogy is pleased to announce the 2014 International Genetic Genealogy Conference, which will be held August 15-17 in Washington, DC at the National 4-H Conference Center. This conference has been planned in order to address the great need for genetic genealogy education.
An outstanding group of genetic genealogists and population geneticists have agreed to speak at the conference, including representatives from all of the major genetic genealogy companies. Dr. Spencer Wells, who heads the National Geographic Genographic Project, will be the keynote speaker.
The main portion of the conference will be held on August 16 and 17 with a packed schedule of presentations from morning until night for those who want to learn as much as possible during this unique opportunity. Saturday will run from 8:30 am until 9:15 pm and Sunday from 8:30 am to 5:30 pm. Additionally, Family Tree DNA will hold a workshop in the evening of August 15. (Other genetic genealogy companies have also been offered the opportunity to present workshops on August 15 during the afternoon.)
More details about the conference and registration information can be found at the website. The registration fee for the conference is $85 and will be limited to 800 total attendees. Meals and lodging will be available at the conference center but must be purchased at least one month in advance. The preliminary conference schedule can be found here and descriptions of the presentations and biographical background about the speakers can be found here.
Tim Janzen (with the assistance of his wife Rachel Janzen) and I have been planning and making preparations for this conference for the past six months. Angie Bush, Charmaine Riley Holley and Paul Woodbury have also provided valuable assistance, including distributing conference flyers at RootsTech and running the Institute for Genetic Genealogy's booth there.
We are grateful to all of the speakers who are willing to share their knowledge with the genetic genealogy community. A complete list of the speakers and their presentations is as follows:
1. Ancestry.com representative - Ancestry.com DNA products
2. Jim Bartlett - Getting the Most of Your Autosomal DNA Matches and Triangulation, an Essential Tool to Sort out Your Matches and Map Your DNA
3. Terry Barton - Surname Project Administration
4. Dr. Blaine Bettinger - Using Free Third-party Tools to Analyze Your Autosomal DNA
5. Angie Bush - DNA Case Studies
6. Rebekah Canada - Mitochondrial DNA Haplogroup H
7. Shannon Christmas - Identity by Descent: Using DNA to Extend the African-American Pedigree
8. Karin Corbeil, Diane Harman-Hoog, and Rob Warthen - Not Just for Adoptees: Methods and Tools for Working with Autosomal DNA Results from the Team at DNAGedcom
9. Family Tree DNA representative - FTDNA Products
10. Dr. Maurice Gleeson - An Irish Approach to Autosomal DNA Matches
11. Katherine Hope-Borges - ISOGG
12. Bill Hurst - Mitochondrial DNA Focusing on Haplogroup K
13. Dr. Tim Janzen - Using Chromosome Mapping to Help Trace Your Family Tree
14. Dr. Kathy Johnston - From X Segments to Success Stories: The Use of the X Chromosome in Genetic Genealogy
15. Thomas Krahn - I've Received my Y Chromosome Sequencing Results - What Now?
16. Dr. Doug McDonald - Understanding Autosomal Biogeographical Ancestry Results
17. 23andMe representative - 23andMe Features
18. CeCe Moore - The Four Types of DNA Used in Genetic Genealogy
19. Dr. Ken Nordtvedt - Y Haplogroup I — Very Early Europeans?
20. Dr. Ugo Perego - Native American Ancestry Through DNA Analysis
21. Dr. David Pike - The Use of Phasing in Genetic Genealogy
22. Bonnie Schrack - Y chromosome Haplogroups A and B
23. Larry Vick - Using Y-DNA to Reconstruct a Patrilineal Tree
24. Debbie Parker Wayne - Mitochondrial DNA: Tools and Techniques for Genealogy
25. Dr. Spencer Wells - the Genographic Project
26. Dr. Jim Wilson - BritainsDNA's Chromo2 test and Y chromosome research
We hope to see you there for this wonderful educational opportunity!
Tuesday, December 10, 2013
Family Tree DNA's Latest Updates
Family Tree DNA made many genetic genealogists very happy with their updates last week. I wasn't expecting to see anything new from them for at least two weeks, but they are already releasing another update today. I am extremely encouraged by the wonderful progress that Family Tree DNA is making toward giving its customers exactly what they have been asking for. With these wonderful improvements, they are demonstrating that they really are listening to what we want and need. Thanks again, FTDNA!
These changes are scheduled to go live today.
Rebekah Canada tells us:
Weekly Information Technology/Engineering Update (10 Dec 2013)
Matches Maps Locations Clear Button
Some users have requested the ability to clear their stored map coordinates for their most distant known maternal or paternal ancestors. We have added a Remove Location button to Step 3 of the Update Most Distant Ancestor’s Location wizard.
Family Tree DNA myFTDNA BETA Family Finder – Matrix
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.
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