At Family Tree DNA’s Conference this past weekend, a new type of DNA test called the Big Y was announced. The test sequences a much larger part of the Y chromosome than done previously by either the standard Y marker (STR) testing, the now defunct Walk the Y(WTY) research program or the Geno 2.0 chip. This test replaces the WTY with much higher coverage and a significantly reduced cost.
Let’s talk for just a minute about those tests.
STR Tests – 12, 25, 37, 67 and 111 Markers
The regular Y marker tests, 12, 25, 37, 67 and 111 were meant to test STR (Short Tandem Repeat) markers for genealogical purposes. This part of the DNA on the Y chromosome repeats itself, like a stutter, and to see if one male matches another male, you count the number of repeats at a particular location. For example, marker 393 often has 13 repeats in haplogroup R. These are used genealogically because they mutate at a faster rate than SNP (Single Nucleotide Polymorphisms) markers. In other words, knowing that you match several thousand people 5000 years ago is not useful genealogically, and that is what you’ve always gotten with SNP markers – haplogroup era information. However, knowing that there are three line defining mutations between your ancestor born in 1683 and you is quite useful genealogically as those line marker mutations serve to identify different lineages within families.
Over the past decade, the Y tree, defined by SNPs, has changed dramatically and significantly. A few years ago, the tree looked much like this…busy, but not overwhelming. Not anymore.
In 2008, the tree was rewritten and dramatically updated. This new tree seemed to be rather permanent, but then came the WTY project and the National Geographic Genographic 2.0 project and the applecart was once again upset. ISOGG currently maintains the most current tree.
WTY (Walk the Y)
The WTY research project was conceptually described in 2007. The goal of the WTY project was to individually examine the DNA of individuals whose STR values were “odd” and out of range enough to cause one to think that perhaps an individual might sport a haplogroup marker previously unknown. Family Tree DNA subsidized this scientific work and new SNPs, which equate to new haplogroup subgroups were indeed discovered. For example, it was through the WTY process in 2010 that we discovered the SNPs that divided the European haplogroup Q males from the Native American haplogroup Q males. In haplogroup Q, that was a watershed event. If you previously took the WTY test, Family Tree DNA will give you a $50 credit towards a Big Y test.
In July 2012, the Genographic 2.0 test was introduced. This test takes advantage of chip based sequencing and tests more than 12,000 SNPs on every chip for all participants. This has had the dramatic effect of significantly rearranging the Y tree. For example, on today’s tree, several SNPs by differing names discovered in different labs are considered to be equivalent. Therefore, there is no reason to test all of those SNPs, just one representative SNP, or so we thought.
Well, we were wrong. Because those SNPs weren’t being routinely tested, we never discovered that they weren’t, in fact, always equivalent. This, in combination with many new discoveries, has caused the entire tree to dramatically shift. In fact, how big the shift is really isn’t known yet, but if Miguel Vilar’s and Michael Hammer’s presentations this past weekend are foreshadowing, it’s huge and extends to the root of the European tree itself, haplogroup K, and add extensively to every branch. I’ve seen a prototype of the 2014 tree, and let’s just say, it’s mind-boggling. Virtually every haplogroup name will change, which is why the names are being obsoleted and only SNP number/names remaining, like R-M269 where R indicates the base haplogroup.
Here’s Dr. Hammer rolling out the new scroll that is the new tree and I believe this was only for haplogroup R-M269 (currently R1b1a2). If your eyes just glazed over, mine did too.
The Geno 2.0 test tested more locations than ever before – more than 12,000 SNPs in all. The WTY continued, as did research in other institutions, and addition SNPs have been added that were unknown in late 2011 when the Nat Geo chip was designed.
Comprehensive Y Testing
In response to the genetic genealogy marketplace, in late 2012 or early 2013, Full Genomes Corporation began offering a more comprehensive Y chromosome test. This test was subcontacted to a lab in China and results have been slow in being returned. CeCe Moore provided a “first look” report in early November. In June of 2013, BritainsDNA also began offering a product with coverage slightly greater than that of the Geno 2.0 chip. The one person I have spoken with who has taken both the Full Genomes and Britain’s DNA tests and has results has indicated problems exist with both. Most newly rolled-out products have birthing issues of some sort. He is working with the owners to get the issues resolved.
Debbie Kennett has been attempting to keep the ISOGG testing comparison chart current which is a somewhat daunting task with so few results back yet and many unknown factors.
With Family Tree DNA’s Announcement this weekend of their new Big Y test at an introductory price of $495, sixty percent less than their primary competitor, as one might expect, it has caused a lot of chatter. One advantage that Family Tree DNA has that other companies don’t is that they already own the requisite equipment and they already have the largest Y data base in the world. They will be able to post information to existing clients’ personal pages and projects, for example, and your personal haplotree will be updated. Data will all be in one place. If there is a problem or a change is needed, they don’t have to communicate or negotiate with someone else, someplace else, they can walk just 20 feet down the hallway to check on or to change something in the lab. It’s their lab.
But all of this information begs a very basic question. Why would anyone want to take this test and who does this type of test benefit? It’s estimated that a new SNP occurs about every generation and a half, so there should be a plethora of SNPs waiting to be found.
Who Needs This Test and Why?
This type of test is targeted at males who have one or both situations below.
- Has currently taken every available test, meaning through 111 markers and every applicable SNP test for your known haplogroup, and you still need additional information to differentiate lines. Lines, in this context, can mean either family lines or clan lines. With the advent of this new test, some men may want to skip the interim SNP testing and just move directly to this more comprehensive test.
- Those who want to learn all they can, participate in and contribute to research. When new SNPs are discovered during the process, which is the goal of the testing, Family Tree DNA has committed to add them to the tree in their proper location immediately. It’s fun to be part of the discovery process and learn something in the process.
Case in Point – Terry Barton
The first SNP that was discovered that was genealogically useful was when Terry Barton was tested several years ago. Initially, this SNP divided the Barton men, but was considered a private SNP because it was not yet found in other surnames. Terry founded the haplogroup R-L196 project. Today, this SNP has been found in the Fowler and Eskew surnames as well, so it is no longer considered a private SNP. The age of this SNP appears to be between 500 and 1000 years and Terry feels that this SNP developed in Lancashire where his ancestors emerged.
With the discovery of family line SNPs, genealogists will be able to use both the regular STR marker tests combined with SNPs to further delineate family groups.
Adoptees and Those Seeking Their Biological Surname
In some cases, the differentiation will be outside of a family line group. For example, let’s say you don’t know your biological surname and you match several men at 67 and 111 markers, none closely, and several distantly. Let’s say that they have also tested currently available SNPs and they all match exactly at the haplogroup level. In this case, I would encourage the adoptee to take the Big Y test and hope that others that you compare against will too. This could be the differentiating factor in determining the biological paternal line when STR markers alone can’t do the job. This will be especially true if the estimate of a new SNP every generation and a half proves to be universally accurate.
The Genealogically or Scientifically Curious
Personally, I want to know as much as I can possibly know about my ancestors. Since I don’t have a Y chromosome, I will be calling my cousin who represents my John R. Estes line and giving this cousin a very nice Christmas gift.
It Might Not Be Useful
I’m sure I don’t have to state the obvious, but I will anyway, you may not discover any private SNPs, but the few results I’ve seen, have all had new SNPs reported. If you do discover a private SNP or SNPs, they may be too far back in time to be genealogically useful. You won’t know if you match others inside or outside of your line unless others test as well. As more people test, these tests will become increasingly useful. The bottom line is this – you’ll never know if you don’t test.
The Price is Right
The BIG Y introductory price is $495 which is, comparatively, a great value. It covers a minimum of 10 million base pairs and approximately 20,000 SNPs. If you previously had the WTY test, your $50 coupon drops the price to $445. These prices hold until December 1st, when the price will revert to $695.