Showing posts with label Relative Finder. Show all posts
Showing posts with label Relative Finder. Show all posts

Monday, November 5, 2012

Ken Chahine Answers My Questions and Reveals Behind-the-Scenes Information about AncestryDNA

I recently had a long and enlightening conversation with Dr. Ken Chahine, General Manager of AncestryDNA. Due to the lack of information from reliable sources regarding the details of what is going on behind the scenes at AncestryDNA, there has been considerable speculation among those interested in the product. As it turns out, much of this has been incorrect.

AncestryDNA's Matching Threshold
First, mostly due to the large number of matches, it has been widely speculated that AncestryDNA is allowing for a much lower threshold than either 23andMe or Family Tree DNA, reporting matches based on as little as two cM. In reality, Ken tells me that AncestryDNA has been using a 5 Mb cutoff [Mb = mega base pairs = 1,000,000 base pairs] for reporting matches in their lowest category - "very low confidence". He explains how they came to this decision and what AncestryDNA sees as the benefits to their customers:

AncestryDNA, we believe, is the only service that phases the genotyping data and has validated the matching algorithm with large pedigrees.  That leads to two important differences.  First, it allowed us to test various segment cutoffs from 5-10 Mb* with and without a proprietary filter that preferentially removes incorrect matches. We've initially selected the 5 Mb cutoff with the filter as providing the best balance between false negative (true matches that we fail to call a match) and false positives (false matches that we call true matches). Second, it allowed us to make a better cousinship prediction.  For example, our data suggest that most relationships that are theoretically predicted to be third cousins are really fourth cousins or deeper.  Therefore, a fourth cousin match at AncestryDNA, we believe, is a third cousin match at other services.

Ken's assertion that AncestryDNA is using a more conservative prediction calculation does appear to be in agreement with what I and many of my colleagues have observed. Time will tell if it is indeed more accurate. The filter aimed at reducing the number of IBS (Identical By State) matches sounds like a promising addition. When we have the ability to examine the raw data we should be able to reach conclusions about how effective the filter is at fulfilling its purpose.

Mb vs cM - What does it mean to us?
As you may know, the centimorgan rather than mega base pairs is used by Family Tree DNA's Family Finder and also primarily by 23andMe as the length of measurement for matching autosomal DNA segments. So, how does this 5 Mb threshold compare to the 5.5 cM* threshold used by Family Tree DNA (*edited from 7.7 cM after I was sent this) and the 7 cM threshold used by 23andMe in their Relative Finder feature? The National Institutes of Health website tells us that in human genetics, "one centimorgan is equivalent, on average, to one million base pairs" or 1 Mb.  Genome.gov agrees, "Generally, one centimorgan equals about 1 million base pairs." However, in reviewing my Ancestry Finder download at 23andMe, which lists the length of segments both in Mb and in cM, I came to the conclusion that, unfortunately, it isn't that simple - at least for our purposes. In some cases, the numerical value in Mb was larger than in cM for the same segment, but in other cases it was smaller. I copied portions of my Ancestry Finder download to demonstrate examples. If you have tested at 23andMe, take a look at your own file to get a feel for the comparison.

The first chart shows the respective values when the Mb value was 11 and the second when the cM value was 11:

                 

Notice the wide range of values in both directions. It appears to be impossible to find a direct correlation between segment lengths measured in Mb and cM. In some cases, the two values weren't even close:

            
The reason the number of base pairs that a centimorgan corresponds to varies so widely is because when the distance along a chromosome is measured in mega base pairs (Mb), the value strictly reflects how many millions of base pairs there are in a matching segment, but when using centimorgans (cM) to express the distance along the chromosome, the frequency or chance of recombination expected within that segment is being measured. Some portions of the genome are expected to recombine more often than others, therefore sometimes a segment of 1 Mb has a relatively good chance of remaining intact and sometimes it does not.

Different Predictions and More Matches
This difference between AncestryDNA's way of calculating the length of segments and that of the other two companies may explain, in part, the reason that some of us are seeing the same matches at AncestryDNA as we have at the other two companies, with very different predictions. The fact that AncestryDNA is using a phasing engine before running the matching algorithms will also account for some of the reported discrepancies. When asked why AncestryDNA is, on average, returning more matches than the other two companies, Ken offered one possible explanation. He said that it may be a result of the AncestryDNA database containing primarily customers with deep roots in the United States and, in many cases, descending from large Colonial New England families.

Adding International Customers to the Database
This discussion prompted me to inquire as to when AncestryDNA plans to offer the test to international customers. Ken said that it is certainly "on the radar", but they do not have an estimate of when this will happen yet. He explained some of the reasons for this:

1. Demand is still high within the United States and they are "processing samples as fast as we can right now".
2. The privacy laws in Europe are, in some cases, different than the US. Therefore, this will take additional time to address.
3. They will need to work out logistical issues.

He emphasized that Ancestry.com is a large company, which necessitates significant forethought and planning before taking action.

Uploadable Raw Data
During our conversation, Ken also addressed the questions surrounding the format the raw data will be presented in as well as the much-hoped-for matching segment data.

"We will be providing raw data download in early 2013.  We have not made any formal decision on segment data.  We understand that it is important to some of our customers and are taking it into serious consideration." 

When I asked him whether the raw data would be formatted in such a way that will be compatible with uploading to third party sites such as Gedmatch.com, he assured me that it would. Fortunately, this puts to rest all of our speculation that the "related security enhancements" Ken referred to in his keynote address at the Consumer Genetics Conference last month would interfere with the data's usability. When I inquired further about the future availability of segment data, he said that he cannot promise anything in that regard, but was open to discussing what presentation formats of that data might be acceptable to genetic genealogists.

Admixture and Reasonable Assumptions
Some have also interpreted Ken's statement (reported by Esquire) that some customers are using their own knowledge to make reasonable assumptions that are leading to incorrect conclusions, to mean that AncestryDNA is using an altogether different method of determining our matches than the other two companies offering autosomal DNA tests for genealogy.  He explained to me that what he was actually referring to was that many customers are assuming that because autosomal DNA matching is only applicable to relatively recent ancestry, that the admixture results also reflect that time period and should match what we know of our ancestral origins from our family trees. He emphasized that AncestryDNA's "Genetic Ethnicity" feature (like any admixture tool) is not looking at the large segments used for relative matching, but rather is examining much smaller blocks and single markers that are ancestrally informative. Therefore, some of this admixture is very old - offering a glimpse much further back in time than our known family trees. He offered reassurance to those who feel that this portion of the test is not yet as accurate as it should be (me included):

AncestryDNA is data-driven.  Our team of scientists are constantly analyzing the data looking for ways to improve the ethnicity and matching prediction algorithms. The science, and hence the customer experience, is only going to improve with time.

At some point, the Sorenson data will likely be incorporated into the AncestryDNA test, which should improve the admixture predictions tremendously.

Even the CEO is working with his matches!
In closing, it was very nice to hear that "everyone from the CEO down is working with their matches" at Ancestry.com. This should lead to a management team that is educated about what we as genetic genealogists are trying to accomplish and how best to do it. As a result, I look forward to improved tools and results at AncestryDNA in the future.

I want to thank Ken Chahine and Stephen Baloglu for their recent efforts to shed some light on aspects of the AncestryDNA test and clear up some of the confusion. As I told both of them, the more transparency that AncestryDNA can offer to the genetic genealogy community, the more satisfied we will all be with the product. According to Ken, it is likely that more details will be revealed soon. That is a very good thing because as I was writing this, I thought of many more questions for him!

Monday, March 26, 2012

"Finding Your Roots with Henry Louis Gates Jr." - DNA in The First Two Episodes

Last night was the premiere of PBS' Finding Your Roots with Henry Louis Gates Jr. with two episodes featuring 1) musicians Harry Connick Jr. and Branford Marsalis and 2) politicians Cory A. Booker and John Lewis. Although I enjoy any television show that brings genealogy into the public eye, I think this series is much more fulfilling for the serious genealogist than NBC's Who Do You Think You Are? In this new series, as in all of his past genealogy shows, you can count on Dr. Gates to present a well laid out, thought provoking story - he never disappoints!

I was really happy to see that genetic genealogy was integrated into both of the night's episodes. It was also great to see that both of my favorite DNA testing companies 23andMe and Family Tree DNA were featured in the show.

In the first episode, in a really fun segment, Dr. Gates DNA tested his friends from the barbershop to determine their genetic makeup. Early in the show, he had each of them guess what percentage of their ancestry was African, European and Native American and then, later, shared with them their actual results. Although they showed a swab collection kit instead of the usual 23andMe spit tube (probably because it was more telegenic), I am quite sure those results were from 23andMe's Ancestry Painting feature that examines a tester's DNA one segment at a time and determines for each stretch whether it was most likely inherited from ancestors in Africa, Europe or Asia (a stand-in for Native American in this case). I thought Gates' presentation of his friends' ancestral origins results using a pie chart format rather than 23andMe's usual 22 chromosome chart was a good choice for the television audience. 

I did feel like a good opportunity for demonstrating the application of Y-DNA testing (offered by FTDNA) was overlooked during the portion where Dr. Gates determined which of the men were the progenitors of Branford's direct paternal line based on the marriage records. Perhaps, Gates and his producers had more information than we in the audience did, but it seemed that a Y-DNA test would have been a more reliable tool for reaching the conclusion that Branford's great-great grandfather was Isaac Black than basing it on the absence of a signature on a marriage license.

The second episode illustrated one of my favorite uses of autosomal DNA by testing Michael Hislop, the theorized (half) second cousin of Cory Booker, and confirming that they were indeed both great grandsons of Dr. Stephen H. Brown (full second cousins would be expected to have an average of 3.125% of their DNA in common, in this case it would be half that since they only share one great grandparent, not two). Mayor Booker's family had an oral history that his maternal grandfather, Limuary Jordan, was fathered by a white doctor, but had no way to determine who that might have been until Dr. Gates' team (which included Megan Smolenyak for this segment) and this DNA test solved the century-old mystery.

Mayor Booker's newfound cousin Michael's comment in response to an inquiry regarding how he felt about being asked to DNA test for the show, was one all enthusiastic genetic genealogist would do well to remember before approaching relatives for their DNA. Implying that he was eased into the idea he reminded, "That wasn't the first conversation that we had!"

Strangely, the collection kit shown for this segment was undeniably a Family Tree DNA kit, but 23andMe's Dr. Joanna Mountain was the one who explained on camera how this type of test works. In reality, both companies offer this service - 23andMe's Relative Finder feature and Family Tree DNA's Family Finder can confirm familial relationships from siblings out to second cousins with confidence. Third cousins and beyond can also sometimes be confirmed, though with more difficulty and diminishing accuracy as the relationship becomes more distant.

23andMe prudently seized the opportunity to debut their new 15-second commercials as "bumpers" at the beginning and end of each episode. You can view them, vote for your favorite and enter a contest to win an iPad3 here.

I was very pleased with the application of and exposure for genetic genealogy in this fascinating new series and look forward to enjoying it every Sunday night through May 20th. I plan on writing a summary about the DNA portion after each episode for those who might want more information on the tests, the methods and the companies used - so be sure and check back!


***Blaine Bettinger shares some interesting insights into the use of DNA testing for this show on his blog The Genetic Genealogist.

 [Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I am currently serving in a volunteer advisory position for 23andMe, for which I may receive a small number of 23andMe kits for my DNA research.  Any opinions that I express here on my blog are my own and do not reflect those of management at either company.  I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Friday, February 17, 2012

News from the World of Genetic Genealogy - "SNiP of the Week"

There have been a few developments of note in the last few days in the world of genetic genealogy. I feel these are worth mention and demonstrate beneficial progress for all of us interested in the advancement of genetic genealogy. "SNiP of the Week - News from the World of Genetic Genealogy" is a new weekly feature of this blog.

1. MyHeritage has announced a partnership with Family Tree DNA:
MyHeritage is now offering FTDNA kits to their 62 million international customer base. MyHeritage users will receive discounts and will be encouraged to utilize DNA testing to find related individuals and grow their family trees. The testers from MyHeritage will be added to the FTDNA database and matched with already existing FTDNA customers. MyHeritage will even alert their customers if a surname project exists at FTDNA for their last name and encourage them to join (great news!). The announcement on the MyHeritage blog explains the new offerings thoroughly. In answer to a question about transferring in already existing FTDNA results to MyHeritage, "Ania" had this response: "...if you use the Family Tree Builder, you may enter the results right on there. Currently it is not possible to enter them in the site but we are working on to (sic) make this possible. We will keep you updated." The company is not currently offering the option to import DNA results from other testing companies, but says they are planning to in the future. For more information the FAQs can be accessed here.
This is definitely a step in the right direction since it is my strong belief that combining autosomal DNA test results with family trees is a necessity to further our collective research.

2. 23andMe has announced the removal of the five per day limit on sending out Relative Finder invitations:
This is the first change resulting from the new advisory panel of which I am a contributor. Although it is an incremental change and it is my understanding that it is intended only as a temporary fix while 23andMe considers solutions to the larger issues that have been brought to their attention, it does demonstrate that they are listening to their genetic genealogy customers and making an effort to improve our experience there.

3. FTDNA has announced a delay in the new Family Finder results from the recent 23andMe uploads:
"We apologize for the delay in posting your results. These last two weeks have produced some of our biggest batches of Family Finder orders ever. After the second of those batches is uploaded, we will be processing your transferred results, and expect to post them to the website next week."
Although this minor delay is unfortunate, the fact that we are seeing more autosomal DNA testing participants is great news for the genetic genealogy world.

4. Another update (and reversal) on Ancestry.com's rumored genotyping chip:
I have very good reason to believe that Ancestry.com is indeed using an Illumina OmniExpress Plus Genotyping Beadchip for their new autosomal test as I initially speculated and contrary to the information that I previously reported from an Illumina employee. If true, this is good news because it will ensure compatibility with other testing platforms. A direct quote from the Illumina CEO Jay Flatley on the February 7th earnings call regarding array orders seems to verify this, "Two large consumer orders were placed in Q4 as well, including one from ancestry.com for approximately $7 million."
I also hear rumors that Ancestry.com may be utilizing the services of Illumina's competitor Life Technologies as well.


[Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I am currently serving in a volunteer advisory position for 23andMe, for which I may receive a small number of 23andMe kits for my DNA research.  Any opinions that I express here on my blog are my own and do not reflect those of management at either company.  I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Wednesday, January 11, 2012

Generational Surnames and Autosomal DNA Matching by Roberta Estes

Please welcome my guest blogger today, Roberta Estes, owner of DNA Explain. Roberta was one of the early DNA surname administrators and pioneer adopters of DNA analysis for genealogy, now managing over 20 surname projects including the large regional Cumberland Gap Y-line and mtDNA projects with over 1000 participants each. The Cumberland Gap mitochondrial DNA project is the largest mitochondrial DNA project worldwide. Roberta founded the Lost Colony Genealogy and DNA Research group in 2007 which includes the Lost Colony DNA projects. Additionally, Roberta is the Midwest Regional Coordinator for ISOGG.  She has been a genealogist since 1978.

I share Roberta's interest in assisting adoptees to discover their roots and am happy to present the conclusions from her recent survey of both 23andMe's Relative Finder and FTDNA's Family Finder customers, written by Roberta herself:

My interest in this topic is due to the number of adoptees I work with. DNA testing for genetic genealogy often represents the best, if not the only hope to adoptees of finding their genetic families.
I'm working with a woman who has two possible surnames to work with. Both are possibilities and the answer could be that neither of these surname is the right one. However, I've managed to put together some genealogy on both lines and I wanted to know how often people are finding matches in the genealogy data bases at Family Tree DNA and at 23andMe for their surnames represented by their parents, their grandparents, and their great-grandparents. For this exercise, I don't care how many matches to each surname they have, only IF they have any match to that surname.
For example, if your parents surnames are Smith and Jones, for example, and you have any matches that include the surnames Smith or Jones in their surnames listed as their ancestors, the answer is yes. If both Smith and Jones have matches, then you have 2 for 2 in the first generation.
The second generation, grandparents, includes 4 surnames, the 2 represented by your parents plus two more, your mother's mother's surname (Anderson) and your father's mother's surname (Ferverda), for a total of 4. If Smith and Jones are already represented, then we need to determine if Anderson and Ferverda have matches. Let's say neither do, so for this generation, you have 2 of 4 possible.
For the great-grandparents generation, we add 4 more ancestors, for a total of 8. Let's say that those surnames are Moore, Brown, Quincy and Scott and let's say that only Scott shows up in the list of surnames of your matches. So for this generation you have 3 of 8, your two parents, plus Scott.
The real question here is what is the likelihood that someone who is adopted will find their biological surnames in the surnames listed by their matches.
An ad hoc survey on both the ISOGG and the DNA-Genealogy lists in January 2012 received results for a total of 57 people who had been tested. A couple of people provided only partial information for a variety of reasons, so the totals in each group are slightly different.
Of the group who replied, for the first generation, their parents, the following was found:
* 20 people had no matches to their parents surnames
* 21 people had one match to their parents surnames
* 14 people had matches to both of their parents surnames
What this means to adoptees is there is a 38% likelihood that none or one of your parents surnames are represented in your matches. There is a 25% likelihood that both of your parents
surnames are listed. Overall, there is a 64% likelihood that you will find at least one of your parents surnames listed in your matches. Of course, the question remains, which surnames are which.
Moving to the second, grandparents, generation we find the following.
* 16 people had zero matches to any of their 4 grandparents surnames
* 14 people had 1 match to their 4 grandparents surnames
* 11 people had 2 matches to their 4 grandparents surnames
* 7 people had 3 matches to their 4 grandparents surnames
* 6 people had matches to all 4 of their grandparents surnames
This means that there is a 30% chance that none of your parents or grandparents surnames are found among your matches. However, there is also a 70% chance that at least one of your grandparents surnames will be found among your matches. There is only a small chance, 7%, that all 4 of your grandparents surnames will be found among your matches.
Moving to the third generation, great-grandparents, we find the following:
* 11 people had zero matches to any of their 8 great-grandparents surnames
* 9 people had 1 match to their 8 great-grandparents surnames
* 6 people had 2 matches to their 8 great-grandparents surnames
* 12 people had 3 matches to their 8 great-grandparents surnames
* 7 people had 4 matches to their 8 great-grandparents surnames
* 4 people had 5 matches to their 8 great-grandparents surnames
* 2 people had 6 matches to their 8 great-grandparents surnames
* 4 people had 7 matches to their 8 great-grandparents surnames
* 1 person had matches to all 8 of their great-grandparents surnames
There is a 20% likelihood that none of your parents, grandparents or great-grandparents surnames will be found among your matches. However, there is also an 80% likelihood that at least one of those 8 surnames will be found among your matches.
The results of the 3 generation, 8 surname survey, when plotted, take the shape of the traditional bell shaped curve, with a lump that would likely smooth out with more samples. Twenty one percent of the people will find 3 of their 8 grandparents surnames among their matches.
Most people told me where they tested, or I could easily discern the information due to the test
name. Many of them also included their total number of matches. The total of matches at 23andMe was, as a rule, was between 4 and 5 times the number of matches at Family Tree DNA. However, the commentary was pretty uniformly that people were disappointed with the contacts, or lack thereof, at 23andMe, in general, and when contact was made, that many had either no interest in or little information on their genealogy, rendering the contact useless or nearly so. One person wondered why someone would test at Family Tree DNA if they weren't interested in genealogy, so the response problem is not unique to 23andMe clients.
Of the people who responded to the survey, 13 of them had tested at both 23andMe and Family Tree DNA. Those results are included separately. Of these at the 8 surname level, there were a total of 21 matches at Family Tree DNA and 34 matches at 23andMe, so testers are obtaining more surname matches at 23andMe, but only about one third more, not in proportion to the 400% to 500% more matches than at Family Tree DNA. This is likely a direct reflection of the number of people at 23andMe that are interested in the health information and not in the genealogical aspect. However, one would think that if they went to the trouble to enter their surnames, they would have some interest in family history.
Interesting aspects were that maybe half of the people had some complicating factor, such as a highly endogamous population or a patronymic population, both of which clearly affect the potential of finding matching surnames. Equally as interesting was the one man who had no matches for any of his 8 grandparents surnames but had relatively "vanilla" colonial American surnames.
As both data bases increase in size, I would expect the numbers and percentages of matches to rise as well. The message here is that today, in January of 2012, for adoptees, there is about a 38% chance that one of your parents surnames is found among your matches, a 64% chance that one or both of your parents surnames will be found, a 70% chance that one or more of your grandparents surnames will be found and 80% chance that one or more of your great-grandparents surnames will be found.
 
- Roberta Estes copyright 2012

Saturday, December 31, 2011

Petition urging 23andMe to reconsider their new unpopular subscription policy

Ten days ago I wrote a post about 23andMe's change in policy regarding their customers' access to the genetic-data-based information in their accounts, such as Relative Finder and health reports, after subscription expirations. As expected, this new policy has proven to be extremely unpopular with the genetic genealogy community.  Although I have had some direct communication with senior management at 23andMe, there has, so far, not been any public statement from the company addressing this issue. I am cautiously optimistic that once the holidays are over and things return to normal at 23andMe, there will be a satisfactory outcome to the community's concerns.

In the meantime, the highly respected genetic genealogist and well-known 23andMe customer Larry Vick has created a petition to make sure this issue continues to get the attention it deserves until 23andMe reaches a critical decision about their company's future relationship with the genealogy community. I think we all recognize and appreciate the extremely valuable contributions 23andMe has made to our hobby thus far and very much hope that this issue can be resolved to everyone's satisfaction. It saddens me to read on various forums statements such as "No one in the genetic genealogy community recommends 23andMe any longer." (Dec 22, 2011 - The Norway DNA Project Facebook page). As Dr. Ann Turner recently wrote on 23andMe's forums, echoing many of our thoughts, "I hope 23andMe's revolutionary contribution is not forgotten in the midst of this debacle."

If you are concerned about this issue, please sign the petition here.

Let's hope the New Year brings a positive resolution to this unfortunate turn of events for 23andMe and all of us.

Wednesday, December 21, 2011

Adoptee Reunites with Birth Family at 23andMe

For a little over a month, many of us have been following the story of an adoptee who tested at 23andMe on a whim and amazingly found a 27.3% DNA match in their database. Today, finally, there is a happy resolution.

Dan had always planned on finding out more about his birth family, but had not taken any steps in that direction until one day a few months ago when he saw a GroupOn offering a discounted 23andMe test. He ordered the test and waited for his results. Initially, he didn't fully investigate his Relative Finder list. When he did so in mid-November, he received quite a surprise. He had a 27.3% female match with the same mtDNA. This meant that his maternal aunt or half-sister (or, less likely, niece from a full sister) had already been tested at 23andMe.

Here is Dan's own summary of his discovery:

 I decided to have my DNA tested on a whim one day as the result of-of all things-a Groupon deal! I had always known that eventually I would seek out my birth family, and the timing was right. To make a long story short, a few months after my results came back, I finally clicked on the "Show Close Relatives" button, and lo and behold, a major match showed up. 27.3% on the maternal side. The good folks here in the community helped me figure out that it would have to be either my bio-Mom's sister, or my half-sister. Stunning news, to say the least.

He immediately sent an invitation to connect to his relative and then turned to the 23andMe Community for confirmation of what he thought he had found. He received an outpouring of support, advice and very interested followers, including me. Throughout this long month, we have all hoped that Dan would receive a response from his match. Personally, I checked almost every day on his progress. With the days drawing on, many theories were developed and ideas for alternate avenues of searching explored, but in the end the DNA test was the answer.

Yesterday, Dan's half-sister logged into 23andMe and received his note. I am so happy to report that she and his five other half-siblings are ready to welcome him with open arms. I have to say that they are lucky to have found a brother such as Dan has proven to be throughout the waiting. From his postings in the 23andMe community forum, he has shown himself to be a caring, thoughtful and well-balanced individual with a lot to offer his new-found family. Obviously, his adoptive parents deserve credit for doing an outstanding job. Kindly, his "new" sister even posted to the very extensive thread concerning Dan's discovery and introduced herself to all of us interested 23andMers. This resulted in many tears of joy from Dan's supporters.

This story is one of hope and encouragement for all adoptees still searching for their biological families. It is also a testament to the power of DNA testing. As the DNA databases grow, I am confident that this type of story will become commonplace. I am, and have been for sometime, committed to helping adoptees utilize their DNA results to learn more about their ancestry, especially in light of the unjust laws on the books of so many states blocking adoptees from their inherent right to know who they are and from where they come. Let's hope this story inspires more adoptees and birth families to DNA test, especially those who have exhausted the traditional avenues of self-discovery and have lost hope.

I hope to post more on this story as it develops and would like to extend my best wishes and congratulations to all parties involved. Dan and his "new" family have received the best Christmas present imaginable. Happy Holidays to all!

Sunday, June 12, 2011

News from 23andMe and FTDNA at SCGS 2011 Jamboree

I attended the lectures of 23andMe's Joanna Mountain and FTDNA's Bennett Greenspan at SCGS 2011 Jamboree, as well as participated in the ISOGG meeting's panel discussion. Below are some interesting tidbits that I learned while there.

23andMe News and Tidbits: 
23andMe recognizes Relative Finder as the company's most engaging feature. This is good news for customers interested in Ancestry tools. In the coming weeks at 23andMe, Relative Finder will undergo the following key improvements:
1.  23andMe will be launching a new interface for Relative Finder. It will display the birthplaces, current locations and ancestral locations (if provided) of anonymous matches. (I am told that I will be a beta-tester, so I will post screenshots when/if that happens.)
2.  23andMe customers will be able to sort their matches by mtDNA and Y-DNA haplogroups, most likely by the end of the month.
3.  23andMe customers will be able to report confirmed relationships for their predicted matches.

23andMe just had a paper on their Parkinson's Disease research accepted for publication in PLoS Genetics. (No news on publication date yet.)

23andMe's total number* of individuals likely to self-identify as:
1000 African American
3500 Latino/Hispanic
5500 East Asian
3400 South Asian
4900 Southern European
6200 Ashkenazi Jewish
56,000 Northern European
1,000 First generation from two continents
*These numbers are as of April 2011 and, obviously, approximate. JM-"In general, these are non-overlapping sets, but there are some individuals who do not fall into any of these categories."

Slide presented on June 11 at SCGS  Jamboree 2011
Courtesy Katherine Borges

Joanna is "very optimistic" about the future of full sequencing for the Y-chromosome and expects it to happen "very soon", however 23andMe has no plans to offer a separate Y-chromosome sequencing product.

FTDNA News and Tidbits:
1.  The 2011 FTDNA DNA Administrator's Conference will be held November 5th and 6th in Houston.
2.  FTDNA has found previously undiscovered mutations in ~10% of all new Full Sequence mtDNA samples.
3.  FTDNA sold 200 "Walk the Y" tests during their last sale. So far they have completed 100 of these samples and found 140 new SNPs. The "Walk the Y" tests take five times more plate space than the Full Sequence mtDNA tests. As a result, FTDNA can run only two of these tests per day.
4.  FTDNA is still planning to allow uploads of 3rd party data to their Family Finder database. (Very soon!)
5.  FTDNA has shipped out over 207,000 kits since inception and 406,000 kits have been sold by National Geographic. FTDNA has 208,000 unique Y-DNA results and 128,703 unique mtDNA results in their database.
6.  FTDNA's Population Finder uses 64 reference populations.

I hope you learned something new. I know I did!
[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Monday, May 30, 2011

Confirmed another 23andMe cousin today!

Yesterday one of my friends/cousins at 23andMe mentioned a predicted cousin of his who has ancestors from the Gloucestershire area of England. Since my Allen, Rudge, Trotman, Chitts, Hill, Johnson, Fowler, Bailey, Jones and Pullin families are from that area, I checked out his profile. Of the seventeen surnames on his profile, we shared four (Pullin, Allen, Cornell and Gillet), so I sent him a share request.  Sure enough, he matched both of my father's siblings on Chromosome 13 for a 6 cM stretch.

Click on the chart to enlarge and get a closer look

With confirmation of a match, I immediately focused on the Pullins since according to his profile, he had traced them back to Somerset, UK, which isn't too far from where my Rachel Pullin (b. abt. 1781) married William Jones in 1801. Because I was concentrating on them, I completely ignored the fact that he also had mentioned the area of Waterloo, Ontario (Canada).

After looking at "My Tangled Vine" family tree on Ancestry.com, he informed me that Sylvanus Cornell (b. abt. 1752) who emigrated from New York to Waterloo, Ontario in about 1800, is his 4th great grandfather.  Sylvanus and his wife Joannah are also my dad's 4th great grandparents. This makes my dad's siblings and this match 5th cousins, fitting with 23andMe's prediction that they are 7th cousins with a range of 4th - 10th. [Update - Sylvanus is also his 5th great grandfather, making them 5th cousins once removed as well.]

It is difficult to be sure if our Cornell ancestors are responsible for this match since we very well may also have Pullin and Allen ancestors in common. Also, we do not know Joannah's maiden name and the shared DNA could be from her. So, as I have said before, to be 100 percent confident that we have found the correct connection responsible for the shared DNA, we will have to wait and see if we get any other matches on this spot who also have Cornell, Allen or Pullin ancestors.

One especially unique thing about today's match is that we have so many possible connections. He shares Gillet with my maternal side, he shares Cornell with my paternal side and we might even share Pullin and Allen ancestors from the area around Gloucestershire, England. (His 3rd great grandfather is Isaac Allen and so is my dad's. Not sure if it is the same one yet.)  To make it even more interesting, I have previously corresponded with his nephew (the curator of the Sheffield Museum) about family history, he belongs to David Faux's Young Family Project that I have mentioned in this blog here and he has lived for forty years in Sheffield, where my fourth great grandfather Henry Moore lived and is buried, even attending the church that my Moores helped the Cornells to found in Beverley, Ontario two hundred years ago. When you find a connection like this, it makes all the hard work worthwhile!

Friday, April 15, 2011

In Honor of DNA Day: Why I Won't Give Up On Autosomal DNA Testing for Genealogy

Many genealogists who tested with 23andMe for ancestry purposes have expressed their frustration with the low response rate of Relative Finder. Many of us have also experienced difficulty finding our common ancestors with our predicted cousins who do respond. I have a well-researched, fairly full family tree going back a number of generations on many branches and even I, as a big proponent of this service, have to admit it has been slow going.  However, I will not give up on autosomal testing for genealogy and here is why:

THIS IS JUST THE BEGINNING!
We are all at the forefront of this emerging science. It will take time to sort out its best uses, but I already see glimmers of its potential. Those of us who have been able to test a substantial number of our relatives are already discovering useful information and emerging patterns. In my opinion, focused family studies are the future of autosomal genetic genealogy. I am confident that there will be a time when we will have successful projects for ancestral individuals/couples and are able to identify probable descendants of these people who had no previous knowledge of this part of their ancestry. Trail blazers like Tim Janzen with his Youngman Family study, Wayne Kauffman with his Anabaptist Project, David Faux with his Young Family study and Whit Athey with his phasing project are already showing us what can be accomplished.

Biogeographical ancestry analyses like 23andMe's Ancestry Painting and FTDNA's Population Finder will become more specific and meaningful in the future. The reference population samples will be greatly improved in time, thus allowing all of us to determine what region of the world specific portions of our DNA originated.

I have already had success with discovering unknown Ashkenazi ancestry through my paternal line. I may never know exactly which ancestor is responsible for that stretch of my 7th Chromosome, but I believe that there is a good chance that, eventually, it will become discoverable.

It is true that my overall response rate on Relative Finder is low, but with over 500 predicted relatives in my account and each of the other numerous profiles that I handle, I have more than enough acceptances to happily work with for many, many months. Of these, I have already found the common ancestor with a number of my matches. This will only improve with more people in the database. If I sustain my current acceptance rate of ~20%, as the database grows, I should have a tremendous number of "success stories" to report.

I find it fascinating to have the opportunity to discover which stretches of my DNA are from specific great grandparents. Researching genealogy has always made me feel closer to my ancestors, but there is something very satisfying and meaningful to KNOWING that I have little bits of them inside me.

This is a classic case of choosing to see the glass half-empty or half-full. I can understand how some have already become frustrated with the limited set of tools we currently have for working with this data, but I will not be one of them. As for me, I will wring every drop of meaning out of each and every ancestry DNA tool that is offered to me with appreciation. This is what I have been waiting for ever since I first read about genetic genealogy back in 2002. I hoped it would happen and now it is here. I can be patient a little while longer, but I won't sit back and wait for others to figure it out for me. I want to be among the individuals who help to realize this great potential, discovering what autosomal DNA can tell us about ourselves and our ancestors.

Stay tuned...

Friday, March 11, 2011

23andMe Proposes Improvements to Relative Finder

23andMe is addressing many of our concerns with the functionality of Relative Finder and proposing some very welcome improvements. These changes to Relative Finder will enable the active participants to streamline their experience, while minimizing the frustration of seeing pages and pages of unanswered invitations when a user logs into their account.  These proposed improvements include:

1. Adding fields for genealogically relevant information such as historical family locations, family haplogroups and notes (no GEDCOMS yet).
2, Actively encouraging users to fill out their profile information on their first visit to Relative Finder.
3. Due to the fact that only about 4% of users have made their profile public, they will keep the option to participate anonymously for now, but will prominently place the option to forego the anonymous invitation in the settings dialogue.
4. Those users who fill out their profile will be prominently displayed on the first pages of the List View results.  All close relatives (up to 3rd cousins) will still appear upfront. The rest (those without profiles filled out) will be pushed to the later pages.
5. Profile SmartSearch will search through these matches and automatically highlight any matching profile information.
6. Adding the ability to search and filter matches.
7. Increasing the speed of searches.

23andMe is hoping to improve the Relative Finder experience for those of us who are very active, without scaring off those who may still be on the fence about sharing their genomes. With this in mind, they are looking at ways to better educate their customers in regard to Relative Finder and the privacy concerns associated with it.

This is only meant to be a quick summary since I wanted to share this good news as soon as possible. I will have more specific thoughts on these proposed changes in a later post. I would like to hear your thoughts and suggestions as well. So, please feel free to comment.

Monday, February 28, 2011

A Success Story and The Randomness of Autosomal DNA Inheritance

While working with 23andMe's ancestry tools this week, I came across what I think is a really good example of the randomness of autosomal DNA inheritance.

I was contacted by one of my predicted 5th cousins who informed me that his closest match on Relative Finder is my mother's first cousin V.  According to 23andMe, they share .73% of their DNA with four matching DNA blocks, varying in size from 5 cMs to 37 cMs, 55cM total. This amount of shared DNA would imply that they are 3rd cousins, as it is just under the expected percentage of .781.

We were able to determine that he and Cousin V are 4th cousins once removed and he and I are 5th cousins. Our common ancestor couple are my (and his) fourth great grandparents Maria Latva-Jussila (1792-1865) and Yrjo Keski-Koski (1792-1861) from South Ostrobothnia, Finland.

Upon first analysis, it appears that this new cousin is more closely related to Cousin V, however that would also mean that he is more closely related to my mom and to me too. My mother and V share exactly the same Finnish ancestors and are of the same generation with no other ancestral lines in common. However, he only shares .14% with my mother (10cMs), a little bit less than what would be expected for fourth cousins, which they are (once removed). He shares about the same with my mother's sister and none with my sister who is his 5th cousin. He also shares the same (.14%, 10cMs) with me and another of our relatives who is his fifth cousin once removed. Further, my mother and I don't share any of the same blocks of DNA that he shares with Cousin V and my aunt only shares one of the same small blocks and another small unique one. To me this all clearly demonstrates just how random DNA inheritance really is.

He and Cousin V's relatively large amount of common DNA must be chalked up to a genetic fluke. They just happened to inherit more of the same DNA from the same ancestors than would be expected on average. I would like to believe that they are also related through my mom's and Cousin V's grandmother's unknown line, but if they were, then we would ALL have more DNA in common with him, not just Cousin V.


On another note, I am very happy to have found a documented cousin using Relative Finder. Those have been too few and far between in the last year. From my experience and from what I hear from others, it looks like that may be starting to change. Let's hope the recent successes finding the common ancestor from Relative Finder matches continue and multiply.

Thursday, February 10, 2011

FTDNA's Family Finder Gets a New Chip!

Today there was great news for the genetic genealogy world from FTDNA! They have announced that they are converting their autosomal DNA "Family Finder" test to the Illumina platform:

We are changing to the Illumina Omni platform. As part of that change, all Family Tree DNA customers who previously ordered and paid for a Family Finder test will be retested for FREE. The new microarray chip for our Family Finder test is the Illumina OmniExpress. It tests about 710,000 unique autosomal DNA SNPs.

The stated motivation for this change was "better potential for future upgrade options." On top of their customer service, as always, FTDNA has already answered many of the common questions in their new FAQs, so I will just cover the highlights:

1. 710,000 SNPs, which is approximately 200,000 more than the old Affymetrix chip
2. Free upgrade for all existing customers (those who request it will be first)
3. Those who sign up for the conversion by Wednesday, February 16th can expect results within 2 to 3 weeks, while converting the entire existing database is estimated to take 6-8 weeks
4. Existing Family Finder results will continue to be available until everyone has been converted 
5. Still $289, no subscription required
6. All currently in process and future orders will be on this platform
7. Not expected to have a significant change to current matches and/or Population Finder
8. In most cases, a new sample will not be required
9. Instructions to request the upgrade:
  a. Login to your FTDNA account. (https://www.familytreedna.com/login.aspx) If you are a project administrator, you will need to log in using the kit number, not your admin account.
 b. Look for the text box that says “Message From Family Tree DNA! Family Tree DNA announces updates to the Family Finder test! Click here to sign up for a FREE conversion!”
 c. Click on the Click here to sign up for a FREE conversion! link.
 d. Complete the form to sign up.

From what I can tell, this seems to be the same basic Illumina OmniExpress chip that 23andMe is currently using, minus the ~300,000 enhanced and custom SNPs that were added to their version. Since these custom SNPs were likely chosen based on significance for health related interpretations, the ancestry portion should be quite comparable. In fact, the best part of this new development is that this will facilitate the very real potential of cross-company transfers. FTDNA has expressed their intention and desire to accept 23andMe raw data uploads for inclusion in their database, but previously was unable to offer this option due to the incompatibility of the Affymetrix chip versus the Illumina chip (lack of overlapping SNPs). This news should change that and, if the price is right, will result in a greatly increased database for comparisons. It will be interesting to see if 23andMe will also allow for Family Finder raw data transfers into their already large Relative Finder database. It would give their ancestry division a needed boost with an influx of primarily genealogically-minded individuals.

The original Illumina OmniExpress Chip was introduced in January 2010 and enhanced in March. Since the FTDNA version of the chip has close to the original's reported 733,202 SNPs, this is most likely the one that is being used.

Information on this chip (before enhancements) from the press release:
  • Premiere Genomic Coverage - Greater than 700,000 strategically selected tagSNPs provide genomic coverage up to 90% for Caucasian and Asian populations as assessed by the International HapMap Project.
  • Proven Data Quality - Industry-standard Infinium HD Assay affords greater than 99% average call rates and greater than 99.9% reproducibility.
  • Industry Best Throughput - With the iScan System, researchers can process in excess of thousands of samples per week. 
There is a downloadable list of the 733,202 markers on the original Illumina OmniExpress Chip here. As I have noted before, I am not an expert on these chips, so I will wait until some of our more technical friends make the final call on the overlap, but I do anticipate that it will be significant.

This was clearly a good move on the part of FTDNA. I hear that in the two hours after the announcement (starting at 10:30am) the number of people who requested to convert to the new chip was nearly 1,500 and was up to 2,000 by 5 pm.

Things just keep getting better and better for genetic genealogy!


[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Wednesday, January 26, 2011

23andMe Relative Finder Update

The latest sale at 23andMe appears to have breathed new life into Relative Finder. This morning I have 30 new predicted relatives in my Relative Finder, my sister has 35 and my niece has 42!  In the seven accounts that I handle each has at least 15 new relatives and most of them have close to 30. Many of the new matches are shared between us, but there are at least 100 unique new individuals. My mother even has three new predicted 3rd cousins! Let's hope these new recruits are interested in genealogy!
(It looks promising so far since I have already received a number of acceptances from my sharing invitations.)

Tuesday, January 25, 2011

Update on 23andMe's v3 results: Relative Finder comparison and ~30,000 v2 locations missing from v3

This will not be a scientific analysis, but, rather a preliminary summary of what I have found so far in my new 23andMe v3 results. My v3 Relative Finder matches loaded this morning and I have done a quick comparison to my v2 Relative Finder. There are some minor changes, but nothing that appears to be too significant.

(all are predicted)                         v3        vs       v2
3rd Cousins                                          4                     4
4th Cousins                                        38                   40
5th Cousins                                       262                 258
Distant                                                 33                   32
Public Match - 4th Cousins               3                     3
Public Match- 5th Cousins               10                   13

% DNA shared 
mother                                           50.00              50.42
sister                                               53.10              53.69
paternal uncle                               21.10              21.14
maternal aunt                                22.61              22.77
niece                                                24.31              24.49
1st cousin                                        11.45              11.36
1st cousin                                        11.95              11.94
1st cousin                                         8.38                8.37
1st cousin once removed               3.12                3.12
1st cousin twice removed              1.42                1.42
2nd cousin                                        1.15                1.15

Upon a brief initial review, predicted cousins lower than this appear to overwhelmingly share the same percentage as before.

Jim McMillan, who runs the independent "Cousins" matching project, compared my raw v2 data file to my raw v3 data file and this was his conclusion,

"There are at least 30,346 locations that are in v2 that are not included in v3.  So when a v2 is compared to a v3 there are going to be some longer half-identical segments that might not be there when comparing a v2 to a v2."

He also posted on his project thread on the 23andMe Forum:

"I have received v3 results from a contributor who also contributed v2 results. About 30,000 locations that appeared in v2 are missing from v3. Thus, when a v2 data set is compared with a v3 data set, it would be expected that the half-identical segments would be a little longer, and more segments meeting a 5cM and 700 SNP threshold found. All my software tolerates different numbers of SNPs. Where no SNP is found, it is deemed the SNPs would be at least half identical. On first blush, the missing SNPs do not appear to be evenly distributed among chromosomes 1-X.

In Chromosomes 1-x there are 30337 locations missing, and in Y 250, and in MT 172.

I have uploaded to box.net the locations in v2 that are missing in v3. See the details in the zipped spreadsheet at http://www.box.net/shared/b4shehl2qn."

I just received a Twitter message from 23andMe that the v2 SNPs were not removed intentionally. It explained (with some humor), "...some faction always falls out during chip manufacturing process. Biology is messy."

As I mentioned on my blog last night, my Ancestry Painting is still 100% European. However, from a review of the forums, the Ancestry Painting algorithm seems to be much improved for many.

Some customers are seeing improved updates to their haplogroup assignments, however there seems to be a problem with errors in the mtDNA mutations being reported from the new v.3 raw data.  They differ from the FMS results that some of us have received from FTDNA. I will post more information on this as it becomes available.

I am still working on getting details on the new SNPs. Hopefully 23andMe or one of the independent project admins will soon comment on the hundreds of thousands of new SNPs, since that is the most significant change and on what we should be focusing. I hear there is a Spittoon Blog Post on the way. More to come...

Monday, January 24, 2011

Update: 23andMe's New v3 Chip Results Are In

Today there is a lot of excitement in the personal genomics community because 23andMe's eagerly awaited v3 results are finally coming in. The customers receiving their results today are ones who bought their kits near the beginning of the last holiday sale. Making it even more exciting is that, according to 23andMe, they are loading thousands of data sets today in this first round. Apparently, they had a very good response to the last sale. This is very good news for customers who are interested in the ancestry aspects of their genetic scans. Judging from this, over the next month, the number of potential "cousins" should jump substantially from the approximately 60,000 records already in their database.

So far, my health results, Ancestry Painting and U5b1b2 mtDNA haplogroup assignment look identical to my v2 results. I am still waiting for my Relative Finder and Ancestry Finder to load. However, I am hearing that some customers have revised and, apparently, improved Ancestry Paintings as well as updated haplogroup assignments.

Giving a little insight into what changes we can expect, Michelle K from 23andMe posted this in the 23andMe Forums on January 19th:

"The first batch of v3 results will become available by the end of this week. Please note that v2 data will not be overwritten by v3 data, rather the two will be merged into one data file. Here are some changes you can expect to see:

RelFinder and Family Inheritance: The Relative Finder algorithm has been updated. Customers who upgrade to v3 may notice small changes to their percentages DNA shared or segment locations in Family Inheritance. Existing, not-yet-upgraded customers may also see small changes to their results as their relatives upgrade.

Ancestry Painting: The Ancestry Painting algorithm has been updated. Upgrading customers may notice small changes to their percentages. Existing, not-yet-upgraded customers will not be affected.

Haplogroups: Upgraded v3 customers may see a slight change in their haplogroup due to updated haplogroup trees and v3 compatibility. The change, if any, should be very minor -- only affecting resolution and not affecting major group assignments. All other existing customers will have their haplogroups recomputed on the new trees later this year. This means, for example, if a child is analyzed on v3 and their parent is on v2, they may have different haplogroup assignments.
Raw data: Upgraded v3 customers may have data for v2 SNPs they previously had no-calls for, if the SNP is on v3 and it yielded data. A complete list of v3 SNPs is expected to be available in the Mendel example profiles by mid-February."

I will be posting all week with updates about the new v3 results, so stay tuned...

Sunday, September 26, 2010

Known Relative Studies with 23andMe: Expected Percentages

I have had quite a few known relatives test with 23andMe recently. In the coming months, I will be writing a number of posts based on these results. As an introduction, I wanted to review some of the information that 23andMe and FTDNA provide in their FAQs regarding their autosomal DNA tests, Relative Finder and Family Finder.  All of these percentages are estimates and will vary due to the random nature of genetic inheritance. The following statistics apply to both 23andMe's Relative Finder (RF) and FTDNA's Family Finder (FF).

Expected percentage of shared DNA between:
Parent/child/siblings = 50%
Grandparent/grandchild/aunt/uncle/nephew/niece/half-siblings = 25%
1st Cousins/great-grandparent/great aunt or uncle/grandnephew or niece = 12.5%
1st Cousins once removed = 6.25%
2nd Cousins = 3.125%
2nd Cousins once removed = 1.563%
3rd Cousins = .781%
4th Cousins = .195%
5th Cousins = .049%
6th Cousins = .012%
7th Cousins = .003%
8th Cousins = .001%

The likelihood of detecting shared DNA with a known relative significant enough to show up in RF or FF:
1st Cousins and closer: 100%
2nd Cousins:  > 99%
3rd Cousins:  ~ 90%
4th Cousins: ~ 45% (FTDNA says > 50%)
5th Cousins: ~ 15% (FTDNA says > 10%)
6th Cousins and more distant: < 5% (FTDNA says < 2%)

In some families, there will be situations that will complicate the above predictions, such as cousin marriages and half-siblingship, but, in general, they are the guidelines that should be used in analysis and comparisons.

Further reading from this series -
Known Relative Studies: Great Grandchild Inheritance
A Success Story and the Randomness of Autosomal DNA Inheritance (Fourth and Fifth Cousins)
Known Relative Studies: Second Cousins 
Known Relative Studies: More Second Cousin Comparisons 
Known Relative Studies: Second Cousin Comparisons, Allen Great Grandparents
Known Relative Studies: Second Cousins or Half Second Cousins 
Known Relative Studies: Identifying DNA from Great Grandparents Using Second Cousin Comparisons
Known Relative Studies: I Found My Third Cousin Today! 
Known Relative Studies: A Third Cousin Comparison and More Random Autosomal DNA Inheritance
Known Relative Studies: Purdy Fourth and Fifth Cousins
Autosomal DNA Matching and the Importance of Testing Multiple Family Members (Ninth Cousins)
Ratekin Seventh Cousin
A Second Cousin Adds to My Chromosome Map and Answers a Nagging Genealogical Question

Sunday, September 12, 2010

"Ashkenazi and Me": Making a case for the Euro DNA Calculator application using ancestry analysis tools from 23andMe

Some time ago, I ran my raw 23andMe data through the Euro DNA Calculator Application. (Euro-DNA-Calc, compiled by Dienekes Pontikos, computes an admixture estimate with Northwestern European, Southeastern European, or Ashkenazi Jewish parental populations. The calc uses 300 markers from a scientific study.)  I was surprised to find that it estimated 86% NW European and 14% Ashkenazi for me.

My Euro-DNA-Calc Chart

Interestingly, my mother showed no Ashkenazi at all in her results with a 100% NW European prediction. Since I have no known Jewish heritage, after some research into the application, I disregarded it.

When 23andMe's Ancestry Finder was launched and began noting Ashkenazi segments, I noticed a spot on my Chromosome 7 that appeared to have a clump of self-declared Ashkenazi matches. When 23andMe started providing the download of the matches associated with Ancestry Finder, I saw that I had no less than 21 "Ashkenazi" matches on Chromosome 7 between 53.3m and 94.3m. My mother had none. These matches all appeared to be rather small and only on that one spot, but it did get me thinking about the possibility of distant Jewish ancestors again.

My Ancestry Finder chart set at 1 Ashkenazi grandparent

Since my father is deceased, I asked my paternal uncle to test in his place. Yesterday, I received his results. There, clear as day, on his Chromosome 7 appears that same Ashkenazi clump that I have (plus a little more: he has 37 self-described Ashkenazi matches on Chromosome 7 on the Ancestry Finder download).

Paternal Uncle's AF chart set at 1 Ashkenazi grandparent
Paternal Uncle's AF chart set at 4 Ashkenaki grandparents

Equally as significant, I could immediately see that he has a number of Public Matches in Relative Finder who list their ancestry as Jewish. Most of them are predicted as "Distant Cousin", which probably explains why they didn't show up in my Relative Finder. In this case, testing just one more generation back revealed very useful information.

While this Ashkenazi ancestry is clearly quite distant, it certainly appears to be authentic after all. Although the Euro DNA Calc greatly overestimated the likely percentage, it does seem to have picked up on legitimate Ashkenazi markers in my DNA.

Bravo, Dienekes!

Friday, September 10, 2010

23andMe's Relative Finder - Matching a cousin on both sides of my family

I had long suspected that Cousin E and I were related on both sides of my family, but didn't have proof until today. On Relative Finder, I match Cousin E on two segments, but she only matches my mother on one. The other segment was a fairly small one (7cMs), so I thought it could possibly have just been missed.  I was curious and wanted to find out.
My father is deceased, so I recently asked my paternal uncle to test at 23andMe in the place of my father. Today, I received his results. Sure enough, he too matches Cousin E!


The dark blue on the chart above signifies the areas that my DNA matches Cousin E. The green is where my mother matches E and the light blue is where my paternal uncle matches E. As one can see, my uncle and myself share the match with E on Chromosome 5 (represented by the bar with the number 5), and my mother and I share the match on Chromosome 7 (represented by the bar with the number 7). Therefore, the matching segment on Chromosome 5 was inherited through my father's ancestry and the match on Chromosome 7 was inherited through my mother's ancestry.
Cousin E and I have not determined our exact connections yet, but we do share Finnish ancestry from the same area (my mom's side) and New England Colonial ancestry (my father's side), so the matches do seem to make sense. We are predicted to be 4th Cousins (3rd to 5th) based on our two matching segments and .37% shared DNA. Since the two segments are obviously inherited from two different ancestors, our likely connection is further back. My mother is predicted to be a 4th Cousin (3rd to 7th) to Cousin E with .28% shared DNA and my uncle is predicted to be a 7th Cousin (4th - 10th) to Cousin E with .09% shared DNA.

Wednesday, June 9, 2010

Your Genetic Genealogist

I began researching my family's history in earnest in 2002. Since then I have made amazing discoveries about my ancestors and myself. Up until recently, most of my work has been centered around old records and faded photos. In the last few years, I have been fascinated by the subject of DNA testing for ancestry purposes. Recently, I was fortunate to have participated as a Beta Tester for both 23andme's Relative Finder and FTDNA's Family Finder- the groundbreaking new autosomal DNA testing products. In this capacity, I have spent countless hours learning all that I could about this amazing new science - both its potential and its limitations. After answering the same questions for my family, friends and other genetic genealogy researchers repeatedly, I have decided to start blogging in order to have a central location for all of the exciting new discoveries that are being made in my family tree and in our genes, as well as to answer all pertinent questions from interested parties. I have convinced upwards of 15 family members to take this new test and will use this site for comparing and contrasting their results as well. Please keep in mind that this is an emerging science and we are all learning it together.
I have chosen the name "Your Genetic Genealogist" because I hope to assist all of you in discovering your genetic roots on this journey to discover mine.