The Big Y and Genealogy

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holiday-lights

For the holidays, I want to talk briefly about one particular type of DNA that is tested, and why one might want to order that particular test.

I’ve seen questions this past week about the Big Y test, so let’s talk about this test today.

The Big Y Test

The questions I’ve seen recently about the Big Y mostly revolve around why the test isn’t listed among the sale prices shown on the Family Tree DNA main page.

The Big Y test is not an entry level test. The tests shown on the Family Tree DNA main page are entry level and can be ordered by anyone, at least so long as the Y DNA tests are ordered for males. (Females don’t have a Y chromosome, so Y tests won’t work for them.)

The Big Y test is an upgrade for a male who has already taken the regular 37, 67 or 111 STR (short tandem repeat) marker test. For those who are unfamiliar, STR markers are used in a genealogically relevant timeframe to match other men to search for a common recent ancestor and are the type of markers used for 37, 67 and 111 marker tests.

SNPs (single nucleotide polymorphisms) are used to determine haplogroups, which reflect deep ancestry and reach significantly further back in time.

Haplogroups are predicted for each participant based on the STR test results, and Family Tree DNA’s prediction routines are very accurate, but the haplgroup can only be confirmed by SNP testing. These two tests are testing different types of DNA mutations. I wrote about the difference here.

Different SNPs are tested to confirm different haplogroups, so you must have your STR results back with the prediction before you can order SNP tests.

The Big Y is the granddaddy of SNP testing, because it doesn’t directly test each SNP location, and there are thousands, but scans virtually the entire Y chromosome to cover in essence all known SNPs. Better yet, the Big Y looks for previously unknown or unnamed SNPs. In other words, this test is a test of discovery, not just a test of confirmation.

Many SNPS are either unknown or as yet unnamed and unplaced on the haplotree, meaning the Y DNA tree of mankind for the Y chromosome. The only way we discover new SNPs is to run a test of discovery. Hence, the Big Y.

It’s fun to be on the frontier of this wonderfully personal science.

Applying the Big Y to Genealogy

In addition to defining and confirming the haplogroup, the Big Y test can be immensely informative in terms of ancestral roots. For example, we know that our Lentz line, found in Germany in the 1600s, matches the contemporary results of Burzyan Bashkir men, descendants of the Yamnaya. I wrote about this here, near the end of the article.

Even more amazing, we then discovered that our Lentz line actually shares mutations with ancient DNA recovered from Yamnaya culture burials from 3500 years ago from along the Volga River. You can read about that here, near the end of the article. This discovery, of course, could never have been made if the Big Y test had not been taken, and it was made by working with the haplogroup project administrators. I am eternally grateful to Dr. Sergey Malyshev for this discovery and the following tree documenting our genetic lineage.

JakobLenz Malyshev chart

Our family heritage now extends back into Russia, 3500 years ago, instead of stopping in Germany, 400 or 500 years ago. This huge historical leap could NEVER have been made without the Big Y test in conjunction with the projects and administrators at Family Tree DNA.

And I must say, I’m incredibly glad we didn’t wait to order this test, because Mr. Lentz, my cousin who tested, died unexpectedly, just a couple months later. His daughter, when informing me of his death, expressed her gratitude for the test, the articles and shared with me that he had taken both articles to Staples, had them printed and bound as gifts for family members this Christmas.

These gifts will be quite bittersweet for those family members, but his DNA legacy lives on, just as the DNA of our ancestors does inside each and every one of us.  He gave all Lentz descendants an incredible gift.

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66 thoughts on “The Big Y and Genealogy”

    • The Nat Geo test only tests certain locations to determine the haplogroup. It’s probe testing in it’s current version. We have not seen any information on the new test that has just begun to be offered. There is no matching and no “discovery” on the Y chromosome in the Nat Geo test. Here’s an article about probe testing. This article was written about 23andMe but they use probe testing as well, so the fundamentals are the same. https://dna-explained.com/2014/03/24/haplogroup-comparisons-between-family-tree-dna-and-23andme/

      In a nutshell, if you want genealogical information and matching, you need to test with Family Tree DNA for the Y chromosome. If you want something else, like just the haplogroup, then Nat Geo would be fine.

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  2. Thanks for this insight Roberta.
    How do you feel this product compares to what you received with Genos and the exome sequencing you could get with Helix?

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    • Many women may for men’s tests to determine the Y line of their father, and their grandfather’s etc. That’s often the only way you’ll ever discover that information about those lines.

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  4. I still don’t understand why one needs an STR test before being allowed to take the Big Y. What the should a SNP test care about whether you have had STRs tested or not?

    And if they claim they need it for some basic starting point as to haplogroup in case BigY doesn’t test a few of the basic SNPs, then what of NatGeo transfer people who already have more haplo info than you’d ever get from even STR111. Why, in extra particular, should they be required to do STR tests first?

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  6. Code R157Y5N3USEH for $40 Off MTFULL (until 12-3 only) and Code R18HOPBNDKIL for $60 off Y-111 has been used. Thank you so much for sharing these! After making my purchases I got the following two coupon codes:
    R1513W2ZY6YS for $20 off MTDNA until Dec 5th and
    R152JBI9WID5 for $50 off Big Y until Dec 5th

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  7. Nothing big this week, but still:

    R18PHJZUZEFZ $30 off Y-DNA67
    R188GYJM1LJO $10 off mtDNA
    R18Z63HQIAL7 $20 off Y37, Y67, or Y111
    R18AXZ04VT5R $10 off mtDNA
    R18GVA2A9DAF $10 off Y37, Y67, or Y111

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  8. I got my Big Y results several months ago but don’t know how to assess its meaning or use it for genealogical purposes. Can you point me to any accessible, nontechnical explanatory materials?

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        • I would suggest asking them what they hoped to learn and what they did learn.

          I have not written anything because the motivation for taking the test can be very different and the results need to be analyzed in relation to the reason you took the test.

          Many people take the test out of curiosity to see where the ancestors of the men they match were located. It’s another way to peer into your deep ancestry, often before the advent of surnames.

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    • I sat on on the Big Y breakout with Elliott at the conference and new tools are coming for Big Y that will help, particularly administrators, and those learning to use these results, with analysis. I’m excited and looking forward to that and agree with Roberta, speak with the admin who suggested it and be sure you join any and all appropriate haplogroup projects with your kit. Like Roberta’s article, our group has made some amazing discoveries using Big Y and have SNPs that are defined to a genealogical timeframe of 1786-1824–so names are now being applied to SNPs in my own group–VERY EXCITING! I foresee a day down the road when a man (drats being female there!LOL) can do a Big Y type test and be handed a family tree…it is NOT an impossibility and we are seeing proof we are headed there. To get that far though, we actually need more men to do this test that we KNOW how they connect as well as those we want to connect to. 🙂

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  9. Are you sure that you have to test out to 37 markers before upgrading to big y? I know someone who just ordered 12 markers test and upgraded to big y before the marker test results are back. They are still waiting on the results but have already ordered and paid for big y.

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    • The Big Y dies not appear as an option unless you have tested to 37. I do believe you can call support and they can override that. But why would one want to do that? Matching at 12 markers is not terribly informative. 37 is pretty much the minimum today.

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      • The reason for only taking the 12 marker test first is to take the cheapest route to being able to upgrade to the Big Y. If the Big Y is the ultimate goal then why not take the cheapest test first? Won’t the Big Y cover all of the markers anyway? Because me personally, I first did what they call the comprehensive Genome, which I thought was the ultimate test, and that only tests 67 markers, then I found out that I needed to take the Big Y if I wanted to really be done with testing so I took the Big Y and now it shows all 111 markers. So that being said a person could take the 12 marker test first then upgrade to Big Y and all 111 markers should show up………

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        • No, the Big Y does not cover STR markers, so they will not just “show up”. The Big Y scans for SNPs, not STRs. The only way to obtain the values in the 12-111 panels it to take those tests.

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      • Unless it has changed in the last few months, 12 markers is all you need to be able to order a Big Y upgrade. I’ve done it on two kits in the last year no problem. As to the why, because they are known cousin matches who have also done FF, and the 12 markers was just to get the Big Y order option as I really didn’t need the STRs in the quest to discover SNPs defining my ancestors, which is our ultimate goal. Particularly know that we have seen 37 markers with a genetic distance of 3 in one of my projects between a father and a son, STRs are not as relevant for what I’m seeking, maybe the same for Garth, I’m not sure.

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  11. Roberta, My son and I both have taken the Y37 test. Which one of us should take the Big Y?
    Thanks, Carl Dalcher

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  13. I have a question about a different test, from genealogybank.com. I received an e-mail with an offer good through December 2 claiming it is a superior test:

    “The GPS Origins™ DNA test is the leading ancestry test in terms of accuracy, analyzing over 800,000 markers, 36 gene pools and 450 reference populations.”

    They claim they can possibly pinpoint your ancestry down to a specific village, not just a general region and provide both maternal and paternal migration routes.

    Do you have any knowledge or opinions about this test? It sounds good, but all these tests get very expensive very quickly.

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      • A BIG Thank You!!! I really respect your opinion. Even on sale, this is not an inexpensive test and I didn’t really see how they could deliver what they promised. I was hoping to discover some missing links (both ancestry.com and familytreedna show I have large amounts of both Scandinavian and Iberian ancestry, none of which have shown up yet in a well researched family tree, so I had hopes this test might help solve those mysteries).

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  14. Here are the bigger ones I have this week

    $40 off Y-DNA67
    R18HBJOPUNBL

    $75 off Big Y
    R18TTVMEVZUN

    $60 off Y-DNA111
    R1861SV6IBA8

    $10 off Family Finder
    R18OEI4FN2N3

    Reply ↓

    • Thank you, Nancy! I used R18OEI4FN2N3 for the Family Finder. Definitely helps offset the shipping costs (understandable cost but still a little steep for me).

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  15. Here are 25 more coupon codes contributed by a follower. Thanks Jim!!!
    R18DEXPVBVPP – $10 off mtDNA
    R18P483JXKTR – $10 off mtDNA
    R18EDBNBWIIZ – $40 off FMS
    R18K06Q9GPZK – $40 off FMS
    R18PXAX84QFY – $50 off Big Y
    R187ZFLH7N2A – $20 off mtDNA
    R18XBNL0DA4H – $20 off mtDNA
    R18I64TO5D8H – $10 off mtDNA
    R186LXMTRE6L – $100 off Big Y
    R18RCXI0G8ST – $10 off mtDNA
    R18FZYFFNVEN – $20 off Y37 and above
    R18SE5ODHFPE – $10 off mtDNA
    R184WFWHZ2SC – $20 off mtDNA
    R18ACNVUK4AG – $10 off Y37 and above
    R18XB0XSUY5J – $10 off mtDNA
    R18VU3Y322C2 – $20 off Y37 and above
    R183F47KB0Q5 – $10 off mtDNA
    R189G6Q29O0F – $10 off Y37 and above
    R18N2F5BVC28 – $40 off Y67
    R181ZDY32UUV – $50 off Big Y
    R189UC5NV27R – $20 off Y37 and above
    R18VKUEYB6WP – $10 off Y37 and above
    R18JY84XQB6C – $10 off Y37 and above
    R18X41P86JQC – $50 off Big Y
    R18T0UEFDG78 – $10 off mtDNA

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    • Thanks, Roberta and Jim. I missed the $100 Big Y coupons, but used R181ZDY32UUV for $50 off the already reduced price. Much appreciated!

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  16. Thank you Roberta! I just used the code R186LXMTRE6L for $100 off for a Big Y test. Many many thanks for sharing!

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  21. Hi Roberta,

    I’m enjoying your blog, as always.

    It is extremely nice of you to share these coupon codes with your readers.

    Regarding the BIG Y test, why is it that a person can be a MUCH better match (according to FTDNA’s matching tool) to people they probably only share a common ancestor with hundreds of years ago than a 2nd or 3rd cousin (proven by both documentary genealogy and the Y111 test)?

    We have had this happen with 3 cousins in one of my lines.

    For example, if we compare two of the 2nd cousins, Cousin #1 has 13 matches (all being of different surnames and of various different haplogroups than his) with whom he has 18 Shared Novel Variants and no Non-Matching Known SNP’s. Yet, with his own 2nd cousin (i.e. Cousin #2, who obviously bears the same surname and of the same haplogroup as Cousin #1), there are only has 6 Shared Novel Variants between them (and no Non-Matching Known SNP’s).

    Now, all 13 of Cousin #1’s differently-surnamed matches (who are all in various different haplogroups than he is) are also listed as matches of Cousin #2 – but with far fewer Shared Novel Variants (ranging between 1 and 7) – a small number of them also having some Non-Matching Known SNP’s to Cousin #2.

    Apparently, Y-DNA SNP matching doesn’t follow the logic that your closest relatives should also be your closest matches, like Y-DNA STR matching does.

    This might make a good topic for a future blog.

    Happy Holidays!

    Reply ↓

  22. Hi Roberta, Have you learned any more about my Haplogroup I-Y3723 and why almost all of my matches were men of Irish decent instead of French.  Am I possibly the key to another break through?  🙂 Jim Bonnevie 
    James 3:13 (New International Version, ©2010) Who is wise and understanding among you? Let them show it by their good life, by deeds done in the humility that comes from wisdom.

    Reply ↓

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  34. $30 off Y-DNA111
    Our Gift to You
    Use Promo Code:
    R32W5A0S29EV
    PROMO CODE VALID FOR ONE TIME USE ONLY
    OFFER EXPIRES 12/17/2017

    Reply ↓

  35. $50 off Big Y
    Our Gift to You

    Use Promo Code:
    R327EBAUNLW9
    PROMO CODE VALID FOR ONE TIME USE ONLY
    OFFER EXPIRES 12/17/2017

    Reply ↓

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