Wednesday, November 13, 2013

News from Family Tree DNA: "Big Y" Sequencing, Conference and Holiday Sale

Family Tree DNA's 9th Annual International Conference on Genetic Genealogy was held this past weekend in Houston. It was clear to those in attendance that, with the recent acquisition of Arpeggi, things are changing over at Gene by Gene. There has been an infusion of "new blood" into the company and with it has come new enthusiasm, resources and promise. The team was very open to hearing the community's needs and priorities, with the new staff listening in on our "roundtable" discussions where attendees were encouraged to share their ideas. As a result, they have promised the genetic genealogy community some of our most requested features in the near future.

Y-DNA Sequencing

These are exciting times for our Y-DNA citizen scientists! Following right on the heels of the delivery of the first results from Full Genomes, Family Tree DNA announced their new Big Y next gen sequencing product at the conference. Justin Petrone covered this development in his article in BioArray News yesterday as have a number of genetic genealogy bloggers.

In all of this excitement there has been a lot of discussion regarding what these competing products will and will not deliver. For the answers to many of these questions, we will have to wait until the first Big Y results start to be returned in approximately 10-12 weeks. However, one of the most pervasive concerns can be addressed now. 

Throughout the genetic genealogy community for the last couple of days, there has been speculation that Family Tree DNA's Big Y product will not include raw data downloads. I found this very difficult to believe with FTDNA's track record of transparency, so I asked Gene by Gene's new Chief Scientific Officer Dr. David Mittelman for clarification on this matter. He confirmed that, while the Big Y results will consist of SNP calls, the raw data will be available for those who want it - just as it is for the company's exome and whole genome products. He added, "We will want to set up some infrastructure to support downloading these big raw files and we will need to clarify for customers that our CSRs are obviously not able to offer advice or support on how to use them."  

I am relieved (although not surprised) to hear this, as I am sure many of you are. I appreciate Dr. Mittelman's quick response to my inquiry even though he was traveling.

The Big Y is being offered at a discount through November 30, 2013 for $495 and will increase to $695 after that. Previous "Walk Through the Y" customers will receive an additional $50 discount. (Various project admins have reported a lot of orders, so the offer appears to be a success already.)

Holiday Sale
The Family Tree DNA holiday sale has begun and is running through Dec 31st. Any customer whose order that includes a Family Finder autosomal DNA test will receive a $100 gift certificate. This sale includes new orders, upgrades and 23andMe/AncestryDNA transfers:
  • Y-37 for $119 (reg. $169)
  • Y-67 for $189 (reg. $268)
  • Y-111 for $289 (reg. $359)
  • mtFull for $169 (reg. $199)
  • Family Finder for $99  (includes a free $100 gift certificate)
  • Family Finder + Y-37 for $218 (reg. $268) inc. $100 gift certificate
  • Family Finder + Y- 67 for $288 (reg. $367) inc. $100 gift certificate
  • Family Finder + mtFull for $268 (reg. $298) inc. $100 gift certificate
  • Y-37 + mtFull for $288 (reg. $366)
  • Y-67 + mtFull for $358 (reg. $457)
  • Comprehensive for $457 (reg. $566) inc. $100 gift certificate
  • Autosomal DNA Transfer for $49 (Reg $69)
  • Y-Refine 12 to 37 for $69 (reg. $109)
  • Y-Refine 12 to 67 for $148 (reg. $319)
  • Y-Refine 25 to 37 for $35 (reg. $59)
  • Y-Refine 25 to 67 for $114 (reg. $59)
  • Y-Refine 37 to 67 for $79 (reg. $109)
  • Y-Refine 37 to 111 for $188 (reg. $220)
  • Y-Refine 67 to 111 for $109 (reg. $129)
  • mtHVR1 to Mega for $149 (reg. $169)
You can order here.

Conference Coverage
When I first started blogging the FTDNA conference, I was largely alone. Now with the excellent and thorough conference coverage by other bloggers and on Twitter, it is no longer necessary for me to give a blow-by-blow account here. Thanks to Debbie Kennett for compiling a comprehensive list of conference posts on her blog


  1. Thanks, as always, for keeping us all informed about these things, CeCe. I have one question, though. How can we genetic genealogists use this test, compared to standard Y-DNA STR testing? I know we can use STRs for comparison matching for genetic cousins on that paternal line, but I'm not exactly sure what this kind of test will necessarily provide for us that might be in a genealogical time-frame.

    1. Dear Lenny,
      The Big Y test at FTDNA will be helpful from a genealogical perspective if SNPs specific to a surname are discovered in the results. It seems probable that the Y sequence results offered by Full Genomes will be more comprehensive than FTDNA's Big Y since the Big Y is only testing for SNPs whereas the Full Genomes test (see is testing for both STRs and new SNPs. It appears that the the Full Genomes test will also sequence more base pairs on the Y chromosome than the Big Y test does. However, the Full Genomes test is considerably more expensive than the Big Y test. If someone is tested by either company with one of these Y chromosome sequencing tests we will still have the issue of how we will get other men with our surname who share a common progenitor within the past 500 to 700 years tested for the new SNPs that are discovered in the testing process. FTDNA told us at the conference that they have a limited amount of room on their testing platform for Y SNPs. They can handle a maximum of 2000 SNPs with their current platform and possibly as few as 1400 SNPs. FTDNA made it clear that they will not be adding new "private" SNPs to their SNP testing menu unless those SNPs are reasonably common within that particular subclade. Thus, males from the same patrilineal ancestry as the person who did a Y sequence may have to use another company to test for these private SNPs or they may have to do the Big Y or the Full Genomes test themselves in order to get results for these private SNPs.

    2. Here's another thought. For those who have tested at 23andme one issue for anyone wanting to work with Y-DNA it's been not all that helpful since they test SNPs there, not STRs. I now wonder if those SNPs might become useful, however, when comparing to the data sets the become available through these other tests.

    3. Good point, Lenny. In fact, I have already used 23andMe Y data in conjunction with surname project SNP groupings to come to some important conclusions. With the advances we will soon see, I think this could become commonplace.

  2. It is hard for me to get excited about FTDNA, I have waiting 8+weeks for the results of the U152 test. The same goes for the transfer of my results to Nat Geo. Even Nat Geo doesn't understand and they are looking into the delays with FTDNA.

    1. Nat Geo just sent the information they received from FTDNA. However, with Nat Geo, I am R-M343, with FTDNA, I am R-P312. Is there a difference?

  3. On the right track?
    Always interested in my history, started in the 80s, but while in Italy, I found relatives there and here. Started reading because I wanted to know how a southern Italian ended up with blue eyes. History of Italy and DNA testing may provide the answer. My name is found where the Longobards (Lombards) held power. I created a surname group on FTDNA and Facebook, Goglia, Golja, Goglio and Golia. Golja is the Slavic spelling of Goglia. Goglio is found in the northern part of Italy in areas of Longobard power.
    The Longobards were Scandinavians who migrated to Denmark then the area of Hamburg before their trek along the Elbe River into Pannonia. In 568 they invaded Italy, took control of most of the country by 600, held power in the north until 774, but kept power in the sound (Benevento) until 1056 when overthrouwn by the French Vikings, the Normans. They maintained power in Benevento under the protection of the Papacy until the unification of Italy.
    So, I tested negative for U106 (the "German SNP"), I am R-P312, so I tested U152. A person with my last name, but different area of Italy tested L21, Trying to cover as many bases as possible, because most of the R1b1a2a1a1b are located in the British Isles.
    My interest is finding where we (all the name in my group) originated, if we find relatives along the way that is a plus.
    That is enough for now. Thanks for listening, any advice, knowledge, comments is very welcomed.

  4. FTDNA is working hard to update Population Finder. They have data from over 50 populations in Europe that they will be using to update Population Finder. They also plan to have at least 3 different subgroups in Africa in the New Population Finder. A precise release date for the new Population Finder was not announced, but I suspect it will be released within the next 3 to 6 months.

  5. In case anyone is wondering about the Big Y Test release of results today… has been very disappointing for pretty much all involved as test results were not delivered as promised today (and a fourth date of "hopeful" release was passed along to customers of the Big Y Test from Nov/Dec 2013..

    FTDNA seems very noncommittal in their wording to its customers. Originally Big Y results for many were to be received on 31 Dec 2013. The it was pushed to mid Feb 2014, then to 28 Feb 2014. Now this is the notice that the majority of the Big Y customers received today from FTDNA not through an email but to there account on the FTDNA Website:

    “We expect that all samples ordered during the initial sale (last November & December) will be delivered by March 28th. We are processing samples in first come first serve order. If a sample doesn’t pass quality control, we will place it in the next set of results to be processed as long as we have enough DNA sample. If we require an additional sample, we will send a new test kit and place the new sample in the first set to be processed when it is returned.”

    The very loose wording at the shows that FTDNA is not guaranteeing delivery of order Big Y test results by 28 March 2014, the they clearly indicate “We expect…”

    To find out that the on 28 Feb 2014 that the expected date (which was changed three times to 28 Feb 2014) of 28 Feb 2014 will not be met, however it may are may not be met by 28 March 2014 (even if there are no issues above FTDNA having to process the test) is pretty horrible customer service.

  6. This comment has been removed by the author.

  7. I have received my Big Y Results and am very glad I signed up for the test. Prior to taking the Big Y, I knew that I was L1065. Results have immediately taken me 4 SNPs downstream of L1065. On top of this I have the Big Y has me positive with a high confidence for an additional 82 Novel (variant) SNPs. Once these novel/variant SNPs are compared with the results of others (which may take some time) much will be learned about my paternal linage.

    Although the Big Y had a rocky start this time around (remained of Big Y test results are scheduled to be completed prior to 28 March 2014) I am extremely satisfied with the product that FTDNA has created.

    Once all the novel/variant SNPs are sorted out, I believe that the Big Y will be the most beneficial genetic genealogy test on the market. From my personal experience with both my currently known results and the expected follow-on information that is expected, I highly recommend this product to anyone interested in their paternal ancestry. Well worth the investment.