Tuesday, January 8, 2013

Brought to you by the AdoptionDNA Community...DNAGedcom

I think most people know how highly I think of the work that the AdoptionDNA Community is doing. They are a proactive group of incredibly intelligent and talented individuals who have banded together with a common cause - to give hope to all adoptees searching for their heritage. I am proud to say that I often collaborate with members of their community and can count a handful of them among my closest colleagues.

Fortunately, for the rest of us non-adoptees, their innovative work is starting to benefit us all. The methodology that they have created for their adoption cases has recently resulted in many success stories and can be applied to most any relatively recent genealogical brick wall. They have created ways to streamline the work of autosomal DNA matching and analysis and are now offering to share this with the rest of the genetic genealogy community.

The New DNAGedcom Site

The new website DNAGedcom delivers some of the tools that are most often requested from the major DNA genealogy companies. In this first phase of development, developer Rob Warthen has recently enabled access for all users to the FTDNA Family Finder and 23andMe downloads (though he cautions users that, at this early stage, there may still be bugs to work out). Through DNAGedcom it is now possible to download a full list of your matches, including the matching segment data from both companies. Those of us who have worked extensively with autosomal DNA for genealogy, know what a huge time saver this is. For me, with over 1000 shares on my main account at 23andMe, it has saved me tens if not hundreds of hours.

Users are required to register to use the site, but it is a quick and easy process.

Create an Account

For Family Tree DNA's Family Finder, this means that instead of downloading the matching segments from the Chromosome Browser five at a time, it can be done all at once. You can also download a file of "In Common With" matches, which formerly had to be checked and compiled one-by-one. To use the ICW tool, you still must assign each of your Family Finder matches to a specific relationship like "Distant Cousin" (which is certainly true for the vast number of our matches) until such time that FTDNA removes that requirement for their filter. (At the 2012 FTDNA Administrators' Conference, they announced their intention to do so.)

Family Tree DNA Tools

For 23andMe, this means that instead of downloading the matching segments for Family Inheritance Advanced three at a time, it is now possible to download a file with all the matching segment data for each of your matches that you are sharing genomes with all at once. If you have a single profile on your account, the Ancestry Finder matching files will also be downloaded. I usually integrate the public matches from the Ancestry Finder file with the Family Inheritance Advanced data to create a master spreadsheet of all available matching segments for each of the profiles I manage.

23andMe Tools

There is even a place to store your spreadsheets (.csv files up to 200 KB)!

Member Spreadsheet Storage

This website is still in the early development stages, but intends to continue to deliver the most often requested tools to the genetic genealogy community. In fact, there is already a full featured phase two version of the site with even more highly desirable capabilities in development. (Rob tells me that improving AncestryDNA's functionality is next on the list!) The site is currently run solely on donations and affiliate income. The website agreement can be found here and is linked to directly from the home page. Any problems with the site should be directed to support@dnagedcom.com.

There are lots of exciting plans in store over at DNAGedcom and I am thrilled to be joining the team that will be further developing this groundbreaking new site. So far, we are:

Robert Warthen - Chief Technology Officer
Karin Corbeil - Chief Operating Officer
Diane Harman-Hoog - President
James Kelley – Professional Technologist and Systems Programmer
Gaye Tannenbaum – Technology Advisor
Patty Drabing – Principal Researcher and Advisor
CeCe Moore – Genetic Genealogy Advisor

Those of you familiar with adoption search, may recognize the names of some of our top search angels there. Their experience and expertise, combined with that of our very talented technology experts has made for a powerful team.

So, go check it out, but please don't crash the server! (JK - Rob tells me it is stable.)

Sunday, January 6, 2013

In Loving Memory of Joan Miller - Genetic Genealogist, Blogger and Dear Friend

I am extremely saddened today to learn of the passing of my dear friend and fellow genetic genealogist and blogger, Joan Miller.  Joan passed away on Friday after a very brave battle with a long illness, throughout which she always stayed positive and full of hope. She was just that kind of person.

When I first started blogging, Joan was extremely encouraging and generous. At the SCGS Genealogy Jamboree 2011, she encouraged me to attend the GeneaBloggers' Ice Cream Social. While there, she lovingly walked me around the room and introduced me to every person there. I was deeply impressed by her kindness that night and continued to be so throughout our friendship.

The timing of her death meaningfully coincides with the announcement of the SCGS/ISOGG "DNA and Genetic Genealogy Conference" to be held in conjunction with SCGS Jamboree. This is very significant to me since my dream of this conference was born from Joan's vision. At the 2011 SCGS Jamboree we discussed her idea to approach the organizers of the event to host a genetic genealogy pre-conference. She never got the chance to do so, but when they came to me with the same idea, I immediately thought of Joan. It is a reality now and I know that she would be so proud. My participation in this conference will be in her honor and we will be memorializing her contributions at the event.

Due to the distance between our homes, our friendship was mostly "virtual", but I had the pleasure of interviewing Joan at the 2011 Family Tree DNA Administrator's Conference. She spoke about her love of genetic genealogy with passion and intelligence (just like she did everything). She was such a joy.

Joan was a prolific and award winning blogger at the Luxegen Genealogy Blog. One of her favorite subjects to write about was genetic genealogy and we owe her gratitude for introducing many of her readers to DNA testing for genealogy. As a retired manager of a medical research lab and a self-described "science geek", Joan was uniquely positioned to understand the complexities of DNA testing and, as a natural teacher, translate that knowledge into easy-to-understand language for her readers. She also coordinated the Alberta Family History Society DNA Interest Group where she was an active volunteer. They were very lucky to have her there to mentor the participants in person.

As a long-time genealogist, she was an early adopter of using the Internet to connect with other genealogy researchers. According to an interview at GeniMates.com, she set up her first genealogy webpage in 2001. She was well known as an active and beloved member of GeneaBloggers and the online genealogy community as a whole. As such, I'm sure that my memorial post will not be the only one.

As I write this memorial to Joan, the word generous comes to mind over and over. She was the definition of that word in so many ways. It was Joan who inspired many of us to join the Kiva Genealogists for Families Project where she was a team leader with Judy Webster. Making a commemorative loan in her name seems like a fitting tribute. [Update - Joan's daughter Heather has asked that commemorative loans or donations in memory of her mother should be made through Kiva and the Genealogists For families Project linked above.]

For the recent Fall 2012 Issue of the AFHS Chinook Journal, Joan and I co-authored a Genetic Genealogy Reference Guide. She did most of the work on it, but generously insisted that I receive credit for the updates that I made to her list since she had been away "From the GeneaSphere" (the name of her regular column in the journal) due to her illness.

Alberta Family History Society's Chinook Journal

She also asked me to look after her small, but beloved Aumack DNA Project while she was healing. I guess that was a more permanent request than I had hoped. Joan had first started working with DNA for genealogy in 2005 when she asked her brother to test so she could join the Kerr/Carr DNA Project (Kerr = her maiden name). She speaks about that experience and what she learned in our video interview above.

Joan and I shared regular, albeit brief, correspondence since she learned of her illness about a year ago. In our last exchange, she was her typically encouraging and positive self and more interested in my well-being than hers. Always thinking of others, she enthusiastically shared an idea she had for me - to create a DNA ebook for beginners. I should listen to her advice.

She described herself and her interests on her Google+ page:

A retired manager of a med research lab,  Joan Miller is a genetic genealogist with an interest in social media and technology to complement traditional genealogy research. Her genetic genealogy activities include Aumack Y-DNA project administrator and coordination of the Alberta Family Histories Society (AFHS) DNA Special Interest Group.

Joan has been involved in genealogical research for over 20 years and she tries hard not to bore the rest of the family with her hobby (addiction?).   Several family members do read her blog and they all love the family tree banners she creates and the stories she collects. 

She is a member of the Genealogical Speaker’s Guild, and various genealogy societies. This busy genealogist writes a regular column entitled “From the Geneasphere” for “Chinook”, a publication of the Alberta Family History Society and serves on the Public Relations committee of that Society. 

Joan is the creator of the Luxegen Genealogy Blog which was named in Family Tree Magazine’s Top 40 Genealogy Blogs for 2011. She served as an Official Blogger for Rootstech 2011 and is delighted to be continuing in that role in 2012.

Joan, who lives with her husband and their daughter’s cat in Calgary, Alberta, Canada enjoys varied activities.  She volunteers with Toastmasters International, plays indoor soccer, relishes outdoor pursuits, and travels widely. She has admitted that she is a “Genealogy Conference Junkie”.

She loved her family so much and was extremely proud of her beautiful children. My condolences and love go out to them at this heartbreaking time. The last Tweet from the former enthusiastic advocate of social media (retweeted from Alex Flint) passed along some poignant advice to us all on December 15th:

Turn off the news. Get off twitter. Go spend some time with the people you love instead. Much better use of time. Peace out. 

I think I will go do that now, but I will be thinking of Joan who I loved very much. We all did. She was one of the most generous, kindest souls I have ever know. I will never forget her. 

Signing off to Joan the way she always did to me...Xoxoxo

Friday, January 4, 2013

Announcing the Inaugural DNA and Genetic Genealogy Conference Sponsored by ISOGG and SCGS: To Be Held in Conjunction with the SCGS Genealogy Jamboree

I am so excited to finally be able to share the following news:

DNA and Genetic Genealogy Conference
Jan 4, 2012 - The International Society of Genetic Genealogy and the Southern California Genealogical Society announce an innovative, important one-day DNA conference, “Family History and DNA: Genetic Genealogy in 2013,” to be held June 6, 2013, in conjunction with the Southern California Genealogy Jamboree.

The featured speaker is Dr. Spencer Wells of the National Geographic Genographic Project, who will review the Genographic Project 2.0. Other speakers presenting state-of-the-art uses of DNA in the search for ancestors include The Genetic Genealogist Blaine Bettinger; Dr. Tim Janzen; The Legal Genealogist Judy G. Russell; Your Genetic Genealogist CeCe Moore; DNA Testing Adviser Richard Hill; and Katherine Borges, the director of ISOGG. Also participating in the day-long seminar will be representatives from the major commercial DNA organizations – Family Tree DNA, 23andMe and AncestryDNA. Separate tracks will be targeted for beginners and advanced genetic genealogists.

One-on-one consultations will be available during the final hour of the day. Help is available to interpret results and to use the various testing organization websites and resources. This personal assistance will help even the most inexperienced family historians apply genetic genealogy as another tool in their research toolbox.

What makes this event so special? “This is the very first genetic genealogy conference that is independently produced by societies such as ISOGG and SCGS,” explained CeCe Moore, the conference co-chair. “I have dreamed of an ISOGG-sponsored genetic genealogy conference for a long time, and I am thrilled to be working in cooperation with the SCGS Jamboree on this inaugural event. Holding the conference in conjunction with the Genealogy Jamboree helps us reach many family historians who would otherwise not be able to attend.”

 “We are so excited about breaking new ground in genetic genealogy gatherings,” said SCGS president Alice Fairhurst, who also leads the society’s DNA interest group and has been actively applying DNA in her own genealogy research. “As more family historians have DNA tests, genetic genealogy is becoming more valuable in the search for ancestors and living relatives.”

Online registration for “Family History and DNA: Genetic Genealogy in 2013” and the Southern California Genealogy Jamboree opens on Friday, January 4, 2013.  Early-bird discounted registration is $175 for SCGS members and $195 for nonmembers. Prices increase after 30 April 2013.The conference will be held at the Los Angeles Marriott Burbank Airport, 2500 Hollywood Way, Burbank, CA. The Southern California Genealogy Jamboree will also be held at the Burbank Marriott on June 7-9, 2013. It is produced bu the Southern California Genealogical Society, 417 Irving Drive, Burbank, CA 91504, phone 818-843-7247.

Further information can be found at www.scgsgenealogy.com and http://genealogyjamboree.blogspot.com

I will also be keeping everyone updated here at "Your Genetic Genealogist".

Tuesday, December 18, 2012

Comparing Admixture Test Results Across Companies (otherwise known as "ethnic" breakdowns): FTDNA, AncestryDNA, 23andMe and Geno 2.0 - My Review

With the recent releases of Geno 2.0 and the new 23andMe Ancestry Composition feature, I thought it would be a good time to review and compare my biogeographical ancestry (BGA) results from each of the major DNA testing companies. (BGA is sometimes referred to as ethnic breakdown or admixture analysis.)

My Known Ancestry
First, let's take a look at what I know of my ancestry:
25% Finnish
12.5% Scandinavian (Norway)
12.5% British (England)
~25% Colonial New England (presumably mostly British)
~15.63% Unknown (due to brick walls and immigrant ancestors of unknown origins)
~9.38% German

CeCe's Ancestry Percentages
You can create your admixture pie chart here.

Family Tree DNA's Population Finder
FTDNA's Population Finder (comes with Family Finder) was one of the first commercially available admixture tests based on chip technology.

I am listed as 98.93% Western European (Orcadian) with a 1.31% margin of error. Surprisingly, none of my substantial Finnish ancestry was detected. In my case, Population Finder is not very informative so I am glad that FTDNA will soon be updating this feature. Of course, many people's Population Finder results will be much more detailed than mine, so my experience may not be a typical representation of this feature's capabilities.

AncestryDNA's Genetic Ethnicity
Just a couple of weeks ago, AncestryDNA's admixture tool was the newest entry into the market, but times are changing fast.

It's one thing for results to not be especially informative like Population Finder above, but for them to be downright wrong is disappointing. This feature underestimates my Finnish ancestry and overestimates my Scandinavian ancestry, both substantially.  Because I have tested my mother, I know that they are estimating a large amount of Scandinavian from my mother's side when there is no Scandinavian ancestry in her extensively documented family tree at all. Does that mean that she doesn't have any? Not necessarily, but AncestryDNA estimates that she has 62% Scandinavian and only 23% Finnish (instead of ~50%) ancestry. Although none of these admixture tools are perfect, this one seems to be the most misleading. Notably, I have received many messages from people confounded and even very upset by their AncestryDNA Genetic Ethnicity results.

23andMe's Ancestry Composition
23andMe started out with a very conservative three population breakdown called Ancestry Painting. Customers had long been requesting an updated version. Happily, the brand new Ancestry Composition is much improved. There are three different views and a number of resolution and confidence settings. I prefer the most granular (Sub-regional Resolution) and lowest confidence (Speculative) of those.

Map View:

Chromosome View:

Split View:

This version matches my known ancestry the most closely and is also in line with the ancestral origins represented in my Relative Finder/Family Finder/AncestryDNA match lists. It was fun to see that even my tiny amount of Ashkenazi Jewish ancestry was detected. Although this tool is definitely the most informative and flexible, it isn't without problems in this early version. For example, on the Split View, all of my Finnish should be from my maternal side, but you can see that 4.6% of my estimated 21.5% Finnish is erroneously assigned to my paternal side. Conversely, almost all of my Scandinavian is correctly assigned to my paternal side. Since my deceased father wasn't tested at 23andMe, they had to compute the Split View without my father's results, which makes it more challenging. However, since I have tested both of his siblings there (they don't have any Finnish), advancements in the future may help in this regard.  I have many relatives tested at 23andMe and the vast majority of them have results very much in line with their family trees. Both of my sisters' Ancestry Composition results seem even more accurate than mine, as do my mother's, both of my aunts' and my uncle's. (I may just be a bit of a mutant!)

National Geographic Geno 2.0's Who Am I?
As most of you know, the new phase of the Genographic Project started returning results a couple of weeks ago.  Screen shots show the different components that make up my ancestry according to these results.

Then, they list the two reference populations that match the combination of my components the most closely. Interestingly, even though I am only one quarter Finnish, they chose Finnish as the first one.

Next, they choose Iberian (Spain and Portugal) as the second population, which doesn't fit with any of my known ancestry.

This admixture tool is different than the other ones reviewed here because it is looking at deep ancestry from thousands of years ago. Personally, as a genealogist, I don't find it as informative or as satisfying as the admixture results that reflect more recent ancestry. I also don't really like how each person's unique combination of ancient components is essentially forced into a single (more recent) population label. This, no doubt, works very well for those whose ancestors have been in one geographic region for hundreds or even thousands of years, but it does not result in highly relevant results for those of us who are highly admixed with ancestry from many different regions. I find the tools that analyze and attempt to categorize small portions of my DNA separately, giving percentages of each region or ethnic group that add up to my total ancestry more meaningful.

At this point in time, for those interested in the origins of their ancestors in the last couple hundred to few hundred years, 23andMe is the best choice in my opinion (especially at the new price of only $99). If your interests are more focused on deep ancestry and anthropology, then Geno 2.0 would be my recommendation. (Remember though that this review is focused on admixture features only. There is much more to take into consideration when purchasing a DNA test for genealogical purposes!)

All of these companies would be well-advised to focus on improving their admixture results for those with non-European ancestry. (Obviously, the majority of their customers have been of primarily European ancestry so far, but optimally everyone will have the the same opportunities of self-discovery in the future.) 23andMe has publicly stated their plans to do so and I'm sure that the other companies will address these shortcomings as well.  AncestryDNA's acquisition of the Sorenson database and National Geographic's vast collection of indigenous population samples puts them in the best position to advance in these areas in the near future, but as 23andMe has demonstrated, customer samples carefully vetted with genealogical information can be utilized with great success as well. As more people are tested, particularly internationally, there will be improvement across the board.

It is important to remember that as intriguing as these admixture predictions are, none of them are 100% accurate at the granular level. We still have a long way to go before anyone can honestly claim to be able to tell a person exactly where their ancestors once lived based on their autosomal DNA alone. However, we are making progress and in a couple of years we will likely be amazed at the advances. In the meantime, the ever-increasing competition between the major companies is proving to be beneficial, spurring all to improve their offerings. So, don't count any of them out quite yet. In a short time, my opinions regarding the "best of" may have completely changed again!

*For more information on these features, please see:

[Disclosure: I have relationships with all of the companies reviewed above. I received complimentary Geno 2.0 and AncestryDNA kits for review purposes. I occasionally receive complimentary 23andMe test kits through my work as a volunteer "23andMe Ancestry Ambassador". Additionally, I have affiliate relationships with Family Tree DNA, 23andMe and Ancestry.com (not on DNA tests) and own a small amount of Ancestry.com stock. I always strive for complete objectivity - none of these relationships have affected the opinions stated in this blog in any way.]

Wednesday, December 12, 2012

My Geno 2.0 Results: Step-by-Step

As much fun as I have had posting and reading about other people's Geno 2.0 results in the last couple of weeks, I have to admit, there's nothing quite like getting my own (finally)!

According to the "infographic" below, I am one of 559,515 Genographic Project participants. (You can access this individualized image through the yellow "Share" button on the top right of the "Your Story" page.)

There were 524,384 participants from Geno 1.0, so judging from this, there are now 35,131 new Geno 2.0 participants. That is certainly a lot and we don't even know if that is the number of kits sold to date or just the number of results being returned now. This means at least 35,131 kits have sold since Geno 2.0's introduction in July of this year. (Pretty awesome!)


My Geno 2.0 mitochondrial DNA haplogroup is U5b1b2 which is consistent with 23andMe's and mtDNA Community's label for me, while my full mitochondrial sequence at Family Tree DNA designates me as mtDNA Haplogroup U5b1.

If you click on the arrows on your map, you will be walked step by step through the migration pattern of your direct maternal line ancestors, ending with a heatmap of the frequency of your subclade (if available). Of course, being female, I don't have a Y-chromosome to explore, but as part of their results, males also receive their Y-DNA haplogroup subclade (terminal SNP), direct paternal line's migration route and heatmap.

The next step that is recommended by National Geographic is to "Complete Your Profile" and "Contribute Your Story". These can be accessed through the Profile tab and the Our Story tab respectively, but for the first to be accessible, you need to opt into research participation under Profile > Account Settings. The default is "You are currently not participating", but if you check the box below and click on save...

...it changes to this:

Then, under Profile, go to "About Me", "About My Family" and "About My Ethnicity" and fill in the pertinent details.

Next, go to the Our Story tab at the top and you will see this:

If you scroll down below this, you will find this window, where you should enter information about your direct maternal ancestral line. This story should only include information on your mother's mother's mother's (etc...) line. Here's mine:

To see your story and the others that have been contributed, click on the "Read Stories" button on the opposite window under "Browse All Stories".

These are the other participants whose mtDNA haplogroup is U5b and have contributed their stories so far. There aren't very many people tested with mtDNA like mine yet as you can see from the "Universe" graphic above (the big blue circle with the red-orange center). The five dots are people whose mtDNA is most similar to mine.

Just for fun, here is peek at a few of the public Y-DNA stories. See anything interesting?

Next, let's take a look at my autosomal admixture results.

According to this, my admixture includes:
45% Northern European
35% Mediterranean
15% Southwest Asian
2% Northeast Asian

Which places me closest to...

Pretty cool since I am 25% Finnish, which as far as I know, is my biggest chunk of ancestry from any single area. My percentages don't match up exactly by any means. My Mediterranean component is significantly higher and my Northeast Asian component is lower than the typical Finn. The description for this latter component notes "... it is also found at a frequency of 5-10% in the Finns, likely introduced by the migrations of the Saami people from Siberia into Finland over the past 5,000 years." Since only one quarter of my ancestry comes from Finland, this discrepancy makes sense.

But, wait, hold on...

Iberian?! I don't have any known Iberian ancestry. Anyway, it doesn't look to me like I match it all that closely anyway.  (For details on how they reach these conclusions, read my earlier post.)

I'm not sure that this method of trying to match all of a person's ancestry to one population label works well for very admixed individuals like me. My individual components may appear to fit best with these two populations when taken as a whole, but this doesn't account for the mixed ancestry I have from multiple regions.

This part of the test is definitely intriguing although I don't really know what to make of it.

The Neanderthal percentage is very close to my 23andMe Neanderthal result of 2.5%. The Denisovan seems on the higher end compared to other results I have seen, but investigating that will have to wait for another day.

There seems to be much confusion regarding downloading the raw data file and transferring the results to Family Tree DNA, so I thought I would review the Expert Options section.

To transfer your results to Family Tree DNA, go to the Profile tab and then Expert Options:

Click on "Transfer to FTDNA":

Check the option for Geno 2.0 and enter your NatGeo Kit Number (found on your box and/or Profile> Account Settings> Geno 2.0 ID Code, where you have previously entered it to register). Then, check the box if you have a Family Tree DNA kit and enter your kit number and password as above. Click on "Next". On the next screen, you will be prompted to enter your address and it will look like you are going to be charged, but choose "Invoice" (instead of Credit Card) and keep going. Then, you will receive a screen to review that will show a cost of $0. Place the order and, if successful, you should get this:

and this:

 If you aren't sure if it worked, check your home page for this:

So far my account results don't show anything different, but I already have the mtDNA full sequence, so I'm not sure what would be imported anyway.  Many of the men importing their results are getting an extensive list of Y-SNPs on their Haplotree page like this:

Although importing Geno 2.0 results doesn't delete the results from the SNP testing that was previously performed at FTDNA, it will override what appears on the project pages.

Apparently, there is a delay for some accounts receiving the raw data download option and so far, mine hasn't appeared yet. When it does, it will be located under the "Expert Options" tab, just above the "Transfer Data to Family Tree DNA" option and look like this:

It is downloaded into a CSV file after clicking on the Download button.

I was hoping to be able to check my raw data file to see how my mtDNA heteroplasmy was reported, but apparently that will have to wait for another time. 

Obviously, I don't have my own Y-DNA results to review, but I have been reading all of the reports from our citizen scientists who are already immersed in investigating those newly released results. I will be sure to report on their findings since this will, undoubtedly, be the area of the most groundbreaking discoveries.

In my next post, I will compare and review my admixture results from all four companies.

[Disclosure: I received a complimentary Geno 2.0 kit from National Geographic for review purposes. This has not affected my opinions or analysis.]