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Big-Y SNP Testing

Back in November 2013, FTDNA announced the release of their NGS (Next Generation Sequencing) SNP test.

This test reads some 11 - 13 million bases along the Y chromosome and checks the result at some 35,000 known SNPs and in doing so, also potentially finds many new SNPs that would indicate branches in the Y-tree.

As at 09 February 2021, 339 members of the Irish Type III haplogroup have ordered an NGS test and 326 sets of results are available for analysis, including three set of results from another NGS laboratory, Full Genomes Corporation.

As with any other DNA test, you have to have other results to compare with and so with this test.

Initially we found that there were 21 additional reliable SNPs that we all have in common with L226, the SNP that was found to define the Irish Type III cluster in 2009.

We had no way of knowing the order of the appearance of each of these SNPs, that is if any or all of these SNPs originated before or after L226. As at March 2016 with 60 R-L226 sets of results, this group was still intact with no one having some but not all of the 21 SNPs in total.

The first big breakthrough came in mid 2016 when a tester was found to be negative for L226 but positive for one of the SNPs that was in the L226 block. This tester then took the Big-Y test and two other SNPs were broken out of the L226 block to join the first in this early branch.

Then in early 2018 another tester, who was also negative for L226, tested positive for the three SNPs found earlier, but also positive for a further four that had been part of the L226 block.
So now we had three branches, the earliest consisting of three SNPs, a second of four more, and the still large block of 14 including L226. This tester has now tested Big-Y and all of the remaining SNPs in the L226 block have been checked and so we have seven SNPs in the FGC5618 branch, then thirteen in the FGC5626 branch and finally seven in the L226 branch.

There have been many SNPs that have been found during Big-Y testing, that reveal branching under L226.

Here is the link to our Big-Y spreadsheet detailing our Big-Y analysis and showing the branching as described below.

Tree Tree Tree Tree Tree

As you can see there are now some 200 branches discovered under L226. While they can all be seen in Big-Y results, some cannot be tested by conventional Sanger testing methods.

FTDNA has launched a SNP Pack available to test that includes many of the SNPs from the branches listed here, and many 'private' SNPs individual's test results, 160 in total. It is called the R1b - L226 SNP Pack and is priced at $119.

If you can't afford the cost of Big-Y, then I do suggest that you take a R1b-L226 SNP pack test at FTDNA, which will likely show which terminal SNP you have.

What do we learn from Big-Y?

As well as the 21 SNPs originally in common and the many new branching SNPs, for each man tested, several 'private' SNPs have been found, ranging up to 21 in number. Whether these remain 'private', that is pertain to the last few generations of that participant's ancestry, or occurred further back will be revealed as more Irish Type III men test, and many of these 'private' SNPs have already been found to be 'branches' in their own right in the Irish Type III tree.

When we count up and average the SNPs that have occurred in these men since the 'bottleneck' event, that is ignoring the 27 SNPs that are equivalent to L226 or just above, we find it averages 21.91 new SNPs. When divided into the 1,450 years to the MRCA we get a figure of 66.2 years per SNP. If we use the same 66.2 years/SNP and multiply by the 27 phytogenetically equivalent SNPs to L226 and the two blacks just above, we get a figure of 1,800 years, meaning that Irish Type III branched from the main R-Tree, under Z2534 (0 - 300 BC).

We have always wondered why the Irish Type III STR signature was so unique and unrelated to all other haplogroups. The fact that we had 21 reliable SNPs in common indicates a long stem with no branching back to the place where Irish Type III left the Y-tree and 1,800 years is certainly plenty of time for this haplogroup to develop such a distinctive STR signature.

Whether this origin occurred in Ireland or somewhere else we are yet to discover.

As we know that Sir Conor O'Brien, Chief of the Clan is on the Y6913 > FGC13418 branch, and as we know that King Brian Boru was born in 943AD, everyone with the SNP FGC5659, (which seems to have originated in Brian or his father), and all branches below FGC5659, are likely to be direct descendants of this revered High King of Ireland.

If you have the funds, may I recommend Big-Y testing at FTDNA, which is usually $499, but sometimes on sale for $50 less, and if not then testing the FTDNA R1b-L226 SNP Pack will add to our knowledge of the 'Irish Type III' cluster. I recommend them to you.

Presentation on Big-Y to Genetic Genealogy Ireland 2016 conference

I was asked to make a presentation at the Genetic Genealogy Ireland 2016 conference in Dublin, Ireland over the weekend, 21-23 October 2016 on what we have learnt from Big-Y testing.

Here is a link to that presentation:- Click Here