With Great Haste We Make Slow Progress

FTDNA has been "evolving" our BIG Y results for a couple of months now. As a part of that process we were regressed back to the most recent ySNP for which we had tested positive separate from BIG Y. In my case that was back a little over four thousand years ago (R-DF13). 

This morning the evolution of my results has progressed to the point that my trail brings me down into the genealogical era again. It is good to be back. This process is not complete. The numbers in the right column will continue to increment as the results of others are "evolved" as well. It appears that about half of the results have now completed that process.  

My BIG Y Matching results are of November 7th

The three individuals with whom I am now showing matches on the bottom two steps share my surname and are also descendants through three different sons of my 6th great-grandfather who died in southern Maryland in 1733 -- clearly in the genealogical era. 

Another man who does not share my surname is expected to join the 3 matches on the second level when the processing of his results are upgraded in the near future. His family and mine were associated with each other in both Maryland and North Carolina. He was my earliest close STR match (an exact 12/12) when I first tested in 2004 and he is a 109/111 STR match today. I am eager for his results to be migrated so that I can further explore which of the three sons of my 6th great-grandfather his genome seems to be most closely associated with. Prior to Big Y testing, documents seemed to indicate that he was likely to be associated with the third son -- from whom I descend. In the first round of BIG Y testing he seemed genetically to be more similar with a descendant of the second son who's line never left Maryland. If that is the case, one of our biological paternal lines may have been rerouted around 1700 or before. I hope the new tools we are being given by FTDNA will help me sort this out.

I will be all ears and full of questions when I get to the 13th International Conference on Genetic Genealogy this weekend in Houston.

SNP Tsunami Continues Into Third Year

Many of us spend a great deal of time, energy and money attempting to document that a particular ancestor of ours belonged to a particular tribe or ethnic group. We all get very excited when we find a family Bible or a diary of an ancestor that dates back two or three hundred years.

Don’t you wish your ancestors had carried a passport which got stamped at every branching point of their intercontinental migration route as they trudged through prehistory? Actually they did. In some cases our genomes have recorded more than a hundred thousand years of travel.

This travel is documented in the mitochondrial DNA of all of us. A separate and more detailed path is documented in the yDNA of men. Many call this anthropology. In Chapter 6 of my most recent book, NextGen Genealogy: The DNA Connection, I call this extreme genealogy. In either case it is the study of haplogroups – or the ancient clans to which our ancestors belonged.

Women ancestors were somewhat limited in what they could communicate to distant descendants because our mitochondrial DNA (mtDNA) contains only 16,569 locations in which they can record the presence of one of the four chemical bases that make up our DNA. Their paths through prehistory can be traced for our female lines using mtDNA test results. mtDNA was the basis for Bryan Sykes’ pioneering Seven Daughters of Eve.

Our men ancestors had tens of millions of additional locations where such information could be logged. What we look for today is where on our genomes these ySNPs occurred in this transcribed travel record. Once such a permanent change has occurred, it is passed down to all male descendants.

What are ySNPs and how do they differ from the ySTRs we have been testing since 2000?

Short Tandem Repeat (STR)

Pronounced "stir." This is a repeating pattern of genetic code letters at a location on the genome. The value is the number of times that pattern is repeated at that location.

Single Nucleotide Polymorphism (SNP)

Pronounced "snip." A single and permanent change in the DNA bases at a given location.

Consumer DNA testing to discover family history information began in 2000 with the focus on the Y chromosome (yDNA) which only males possess. Mitochondrial DNA testing for both genders soon followed but is somewhat limited because it has ONLY 16,569 locations to store a single bit of information. By 2010 autosomal DNA testing burst on to the scene and has become the most popular test.

By 2013 a new testing cycle for yDNA became available to genealogists. While the previous cycle had focused on testing ySTRs, the new wave examines ySNPs.

However, yDNA can record 3,500 times the data that mtDNA can. Therefore, it has the power to record a much more detailed migratory history.

Most of yDNA testing to date has been conducted on Short Tandem Repeats (ySTRs). When we talk about 12, 25, 37, 67 and 111 marker tests, we are referring to how many ySTRs were tested. STR testing is analogous to dispatching a census taker to a village which is known to have 12, 25… residences. In our scenario the locations of these residences have been defined by geneticists as being accessible and having a rate of mutation that is somewhat predictable. At each location our census taker records how many STRs are currently in residence.

In NextGen testing the focus shifts to Single Nucleotide Polymorphisms (SNPs). Instead of dispatching probes to specific, predefined locations, NextGen ySNP testing is more analogous to take satellite images along the entire Y-chromosome. Although the chromosome contains almost sixty million identifiable locations, current technology allows us to get reliable data from only about a fourth of those locations. Still this is an overwhelming amount of data. The computing power to analyze it has only recently become available.

At present ySNP chasing is only in its infancy. A vast majority of the SNPs we know today have been discovered in the last two years. The statistics in the chart below represent the number that had been placed on the International Society of Genetic Genealogists (ISOGG) yTree committee chaired by Alice Fairhurst:

Cumulative SNPs placed on the ISOGG yTree

Another way to look at this SNP tsunami is to view the new SNPs identified in a two year period (2013-2015) for R1b-L21, the most common male haplogroup in Western Europe today:

Known SNPs in R-L21 haplogroup in mid-2013 (Mike Walsh)

Known SNPs in R-L21 haplogroup in mid-2015 (Mike Walsh)

We are still working to find the exact location and sequence for many of them. In some ways our knowledge today would be like getting a SNP passport with several dozen “check point” stamps on it but in random order. We know that our genomes passed through all those points but are still trying to decipher in what sequence that journey occurred. The charts above for R1b-L21 represent ySNPs that we have been able to arrange in evolutional order. As more men are tested and we can document where they exited the main SNP trail, we can refine our chronology for all of us.

The chart below for sub-clade R-1026 is an expansion of the seven pale pink SNPs clustered at the bottom of the chart above. This subclade was unknown when the previous chart was drawn in 2013.

Courtesy of Alex Williamson -- www.ytree.net 

Even with this deluge there are many more thousands of SNPs to come. The NextGen curve is where the ySTR was in 2003 when 10,000 tests had been sold by FTDNA. Ironically, that is the number of BIG Y tests Bennett Greenspan reports FTDNA has sold to date. Full Genomes report their company has sold 1,500 NextGen tests. 

Most of the ySNPs that have been discovered have yet to be specifically placed and more will be discovered as testing numbers increase. The entire recently discovered R-S1026 haplogroup above is not yet integrated into the ISOGG ytree. It is only partially integrated into the FTDNA ytree. The R-S1026 chart contains many blocks or boxes that group newly discovered SNPs. At this point we believe we have the blocks in the correct chronological order of their appearance. However, we have yet to sort the SNPs within boxes into their correct order of appearance. And more remain to be discovered. Other haplogroups are in a similar state of discovery and growth. The SNP tsunami shows no sign of receding anytime soon. 

What's Your ySNP Testing Strategy?

In my last post Tested 67 ySTR Markers? Now What?, I discussed how you could get some idea of what your more recent ySNPs might be than the ones estimated by FTDNA. This knowledge can be useful whether or not you want to pursue further SNP chasing aggressively or not.

To build on the example in that last post, it looks like most if not all of those who had ySTR matches in that group actually belong to the R-S1026 haplogroup. This is a small clan that is now thought to have split from DF13 about 3,500 years ago. S1026 was just added to the FTDNA SNP Tree about a month ago. It still has not been added to the ISOGG yTree although the L21-DF13-S1026: R-S1026 and Subclades Project is linked from there. Our mechanisms for organizing new findings have been overwhelmed by the SNP tsunami of the last two years. 

If you have gone through the process of finding the project for your matches who have done extensive SNP chasing, you can get a general idea of where your personal ySNP trail was located. For example, in the example I have been following, S1026 is the pale pink group of boxes in the bottom right-center of the following diagram created by volunteer super SNP chaser Mike Walsh:

Only a small fraction of these SNPs were known two years ago. We are still in the early days of understanding SNPs. We are about where we were about 10 years ago in our understanding of STRs. 

Even more specific information can be found by following the SNP trails of our STR matches. The group of pink boxes associated with S1026 above have been expanded by another volunteer super SNP chaser Alex Williamson:

Now I must introduce the concept of a block of SNPs. In Alex's chart above most of the SNPs between S1026 at the top and the individuals tested at the bottom are located in blocks (or boxes). These blocks may contain only a couple of SNPs or as many as 30. We know that these SNPs in a given box are located contiguously but we are still working to determine their exact sequence chronologically. In addition it is thought that these SNP mutations occur at random but about once ever 150 years. That number will be refined as more individuals are tested and our knowledge base grows.

In the chart above some of the men listed at the bottom would be the ones that are likely to have been your 67 marker STR matches in my previous post. In this case they are the ones under the large fat SNP block in the center of the chart. Your results will differ. This example is a little skewed because several of us encouraged our closest ySTR matches to take the BIG Y test -- a strategy you may wish to employ if you do decide to take the BIG Y test.

If you are fortunate enough to be chasing a SNP that is below R-L21, you will be able to use the tools created by Mike and Alex to learn more about your own SNP path. If you are a member of a different haplogroup, hopefully there will be an experienced SNP chaser in your group who can guide your search. These volunteers are absolutely the most knowledgeable individuals about your haplogroup. 

ySNP TESTING STRATEGIES
I am going to continue to use my own haplogroup for illustration purposes. Of course your situation will differ. 

Within our haplogroup project we have proved that those with close ySTR matches also appear to have relatively close (pun intended) ySNP paths of descent down through the eons.
The three strategies from which you can choose going forward depend on your genealogical goals and the amount of disposable cash you can use to feed this addiction. This is clearly not the case where one strategy is the best fit for all.

Those three strategies are: 

1. to test one SNP at a time and hope, by lucky guess or the process of elimination, to document one's actual SNP trail;
2. to take one of the NextGen comprehensive ySNP tests such as FTDNA's BIG Y or Full Genomes Y Elite 2.0; or
3. to test with one of the bundled panels that are being assembled by various labs.

Of course you can choose a 4th option -- none of the below. That would be to travel through ySNP-land vicariously as we have been doing in this post and the post that preceded it. However, if you wish to further explore your own situation, I would encourage you to chose ONE of the strategies below and not to flip-flop back and forth between them.


Testing individual SNPs

1. The strategy that appears to be the least expensive at the beginning can become the most expensive over the long term. Both FTDNA and YSEQ offer single SNP tests for thousands of SNPs. To employ this strategy you choose a SNP to be tested from a catalog list of those offered. If you choose wisely, you may be able to advance your search for a modest cost. However, if you are ordering single SNP tests at random you can easily spend more, over time, than you would by starting with a more comprehensive test in the beginning. Ordering single tests in sequence is also time consuming because you really should order one at at time, wait weeks for the results and then decide whether another single SNP test would be useful. Single tests are currently $39 at FTDNA and about half that at YSEQ. Both are legitimate labs. FTDNA is in Houston, TX, and YSEQ is in Berlin, Germany. YSEQ is a nimble two person operation that specializes in yDNA. FTDNA offers more comprehensive DNA testing products and services including easy integration into thousands of volunteer led projects.                                                                            
2. Your needs may better by hanging on to the money you have available now and waiting until you can afford a more comprehensive test. While the single SNP testing above is somewhat like dispatching a census taker to a specific location to see in a given SNP is negative or positive, the more comprehensive testing is more similar to taking satellite photographs of the 58 million or so SNPs along your Y chromosome. Many passes are made and stitched together by a computer algorithm. While it may not be as exact in every case as the individually targeted SNP testing (Sanger), it is certainly more cost effective and gives results for locations which at present have no single SNP test yet available. At this writing the listed price for BIG Y is $575 and Y Elite 2.0 is $775. The latter is more comprehensive although both will give most genetic genealogists more data than they can process. FTDNA will not sell such advanced tests to anyone who does not yet have STR test results or Geno 2.0 results. Full Genomes has no such entry requirement. These comprehensive tests have the added advantage of yielding not only a haplogroup designation but providing a list of unique SNPs that may be approaching offering a terminal SNP that could serve the same family identifying function that did the coats of arms of old.                                                                                         
3. The newest commercial offerings to ySNP chasers are a wide variety of "panels". These are bundles that offer many tests of individual SNPs in one or two steps to narrow in on a specific haplogroup. These are offered by both YSEQ and FTDNA and generally are priced about $88 to $120. While these can screen many SNPs at one time, they generally only identify only one or two SNPs along your migratory path. Buyers should beware that such offerings actually have potential benefit for them.  

In the last analysis the advice posted in the FTDNA learning center:

Please order SNPs with the help of an expert, if you aren’t sure which SNP(s) will benefit your research.

Before ordering, you should ask the advice of an expert on your haplogroup and subclade. We recommend joining an appropiate [sic.] Y-DNA Haplogroup group project. You may then consult the administrators. 

Happy SNPing, but let the buyer beware!

Got BIG Y test results? Now what?

A few thousand if not several thousand men have or soon will have BIG Y test results. Of these the R1b-L21 haplogroup project has 800 all by itself. Funding the test is only the first major hurdle. Next comes the formidable task of incorporating the information into your family history.

Making sense of all the SNPs that have been discovered in the last year is overwhelming to many of us. That SNP Tsunami wave train is not a single event but a series that will be washing newly discovered SNPs ashore for the foreseeable future as more men are tested.

Hopefully you will have some SNP Superheroes in your haplogroup like the ones from whom I have benefited in L21. Without their mentoring I would still be struggling to stay afloat and would have very little understanding of the information newly liberated from my yDNA.

As I discussed in a previous post, you will find your BIG Y results in the Other Results section of your My DNA report at FTDNA. Part of that information is shown below:

Before we go further with our analysis I'd like to share with you an important caveat from Ray Banks who is the guru of the Z253 subclade of L21. My deceased father-in-law belongs to that subclade. Ray says:

"Big Y results are like slices of Swiss Cheese - full of holes and inconsistencies. It is only by putting together all of the slices that you get the full picture."

The data in the various columns in my report above are examples of Ray's slices of Swiss Cheese. As is typical of the BIG Y reports I have seen, the men in this listing share about twenty-five thousand SNPs (right column). That is interesting but so far I've not found that particularly relevant to my research. 

However, the order of the matches is relevant. You will note that they are ranked by the values in the Known SNP Difference column. Based on this column one could assume that the man listed first is my closest genealogical match. Not so. He is my second closest match in this group. My closest genealogical match is the 6th man listed. He is a known 6th cousin--once removed. Remember Ray's Swiss Cheese!

When a much more comprehensive amount of the evidence from my BIG Y results was analyzed by SNP Superhero Alex Williamson, he appears to have arrived at the correct conclusion about our relative relationships  and arranged our SNP branching in the correct sequence. Alex is the creator of The Big Tree of BIG Y results for those of us who have tested positive for R-P312 -- a parent SNP of L21. He found 5 SNPs that I shared with my known cousin after we parted company with the man listed at the top of my list above. The three of us share about twenty BIG Y novel SNPs that have not yet been found in other BIG Y results. We are hopeful that this situation will branch further when the results of three other men, thought to be somewhat distantly related, are posted in February. 


Analysis for Novices

Most of us, including Dr. D, have not begun to master the wizardry demonstrated on our behalf daily by Alex, Ray, Mike Walsh and many of their associates. However, I would like to share one trick that even novices can feel free to try at home as long as you remember the "Swiss Cheese" caveat.

Open your Big Y - Results and enter the Matching tab  

Next open the drop down menu under Shared Novel Variants. In the example below I have scrolled down the list until I came to the point where the matches start narrowing down from a few hundred to a few. The long series of numbers indicate the location on the Y chromosome where that particular SNP is located -- in this case 19201991. This just happens to be the location of the SNP that defines my subclade S1026. Note that 12 other men have tested positive for this SNP and are also members of this subclade.

Slide the scroll bar to the bottom of the list in order to find those likely to be your closest cousins. In the example above the SNPs followed by "(2)" will show two other men if the entire screen were displayed. For privacy reasons I have not shown their names or the buttons to display their email addresses. If you move the slider scroll bar completely to the bottom of the list, you may have a single individual who should be your closest match. However, remember Ray's Swiss Cheese! 

"Big Y results are like slices of Swiss Cheese - full of holes and inconsistencies. It is only by putting together all of the slices that you get the full picture."

Occasionally, you may have a SNP that is totally at random or appear to be that may match with one or a few men in some totally separate and distinct haplogroup. That is when you need to combine several slices of cheese to get the full picture. If you do look at a half dozen or more SNPs a true pattern should emerge. Happy snipping!

It think I'll go make a grilled cheese sandwich -- Swiss of course.

The Long Journey of your Genome: Part 2

Many of us wonder what path our ancestors traveled through prehistory to the time that pieces of their journey were recorded in various forms of the written word. Those of us who have European female ancestry can use a full mitochondrial test to tell us from which of the Seven Daughters of Eve we descended through our direct maternal lines. However, we must not lose sight of the fact that we may have descended from several of the seven daughters described by Bryan Sykes or even from sisters of the Eve hypothesized in his book. For example my maternal grandmother in a direct umbilical line descended from Helena but my paternal grandmother descended in a parallel line from Ursula. My daughter and son descended from Helena by a very different "umbilical cord" line. Through my daughter-in-law my Dowell grandchildren picked up a second line from Ursula and a line from Katrine through their maternal grandfather. 

Connecting these ancient SNP defined lines with our documented genealogies has been more problematic. Some of us have been able to make haplogroup connections that are meaningful to our genealogical research; but most of us have not. Full mitochondrial databases are still very small compared to both yDNA and atDNA databases so matches are not as common. Also, as I discussed in Part 1 of this series, the amount of information recorded in your mitochondria is minuscule compared to that contained in your chromosomes.

Beginning to read your  - Results 

Much of the information that is reported to those of us who have taken the BIG Y test is unintelligible to most of us -- at least at first. FTDNA does not report our BIG Y results in the yDNA section of our My DNA page. Rather, it is in the Other Results section. This is the first indicator that BIG Y results have not yet been integrated with the rest of your yDNA reports. This is most important to remember when you try to understand the place of your own SNPs within the FTDNA. No SNPs have been added to the Y-DNA Haplotree since the inception of BIG Y testing a year ago. 

Only SNPs that had been discovered by FTDNA or GENO2 prior to November, 2013 are included in the FTDNA's current tree. Even some of the SNPs for which you may have confirmed results from individual tests at FTDNA are not reflected on their current tree. These also may not be included in their listing of your confirmed results on your opening my DNA page. For example in 2012 I took an individual SNP test at FTDNA for a SNP named DF13 and was found to be positive. DF13 was then and is now known to be below L21. However, I am still being shown to have a terminal SNP of L21 on my FTDNA report. More recently BIG Y has discovered about thirty more SNPs below DF13. 

There is no way FTDNA could have included those thirty SNP in their tree yet. This is a different kind of exploration. The BIG Y is a voyage into the unknown inner space of our yDNA. However, DF13 was known and I had been tested for it more than a year before BIG Y blasted off and more than a year before the last update of FTDNA's current tree. This is not a criticism of FTDNA's tree as much as it is a caveat warning you not to read too much into it. Probably less that one-tenth of the SNPs on our Y chromosomes, about which we know today, were known at the time FTDNA was putting the current table together. It is going to be a monumental effort to update it.

I think I'll stop now before continuing soon with some hints on how you can begin to interpret your BIG Y results. That is really what I started to do in Part 1 before I decided I needed to give some background first.

STiRring the SNP Pot

Most of us, who have been interested in genetic genealogy for more than 4 years, got our start by trying to understand the STRs (Short Tandem Repeats) of yDNA. For those of you who are new to this field, STRs are what is counted at various specified locations along Chromosome Y to generate the numbers on 12 markers, 25 markers, ... and 111 markers test results.

In the last few years our attention has been drawn to the cMs (centiMorgans) of matching segments of the large numbers of atDNA kits that have been tested by 23andMe, FTDNA and Ancestry.

Unfortunately, Full Mitochondrial Sequence test results have yet to reach the critical mass necessary to make mtDNA genealogically relevant to many of us. As the number of individuals tested continues to grow, this test will have genealogical relevance for more of us.

In 2014 the first wave of the SNP Tsunami engulfed us as results from Full Y, BIG Y and Chromo2, among others, began to come back in greatly increasing numbers. The mechanisms for organizing the newly discovered SNPs (pronounced "snips") could not begin to keep up. The FTDNA SNP tree currently lists my most recent SNP as R1b-L21 even though I had tested positive for DF13 (the next level down) in their lab in June, 2012. DF13 does not yet show up of FTDNA's SNP Tree even though several hundred customers have tested positive for it. Only SNPs known by November, 2013 and mostly those on the chip of National Geographic's Geno 2.0 test have so far been incorporated. As a result none of the SNPs discovered in the last year are listed in Y-DNA Haplotree currently posted on FTDNA's website. 

Even ScotlandsDNA, the lab which discovered and named my own subclade of S1026, has not figured out much about what it is:

Your S1026 subtype was recently discovered using Chromo2, so its distribution is not yet understood. You may carry markers that further define your subtype, but do not yet appear on our tree. You will find these in your genetic signature.

The ISOGG yTree is trying to keep up but is woefully behind where the SNPs are daily being identified as they wash ashore in the haplogroup discover projects. This tree which is relied on by academics and hobbyists alike to document the descent of "man" from yAdam to the present had identified and placed on its tree a total of 3,610 SNPs from 2006 to about this time last year. Since January of 2014 alone more than 10,000 additional SNPs have been added. And there is no end in sight. Tens of thousands more are in the process of being identified and placed by citizen scientists. 

NextGen sequencing has identified them. The harder job is to assign each of them to the correct haplogroup and to arrange them in the correct chronological order. Many more men need to be tested before this process can near completion.

Men wishing to learn more about their deep ancestry and those who wish to build bridges from their deep ancestry to their ancestral trail into genealogical time cannot rely on the yTrees of either FTDNA tree or ISOGG. These are too far behind the trail blazers. Instead the strategy that seems to be working is to seek out a man who has already taken a NextGen test AND who shows up as a match for them on a ySTR test. A match within 10 markers on a 111 marker ySTR test is likely to be a fellow member of one's subclade just beyond genealogical time. Mismatches of 7 or less on a 67 ySTR test are also good candidates.

SNP R1b-S1026 was discovered just below L21 and DF13 by ScotlandsDNA's Chromo2 service shortly before the BIG Y results started coming back.

It is at the very bottom and slightly right of center in the diagram above. At the moment it is represented by 4 pale rose colored boxes. This is my subclade. We are attempting to expand this group down into genealogical times and we are getting close. 

Recently two men who previously had not SNP tested were tested for newly discovered Z16891. For those of you who are trying to keep score, Z16891 is the rightmost pale rose SNP on the very bottom row in Mike Walsh's excellent chart above. These men were single SNP tested using the older Sanger technology at FTDNA. ySeq also offers the same test. These men chose to be tested for Z16891 because they had close STR matches with men who had taken part in the discovery of Z16891 as part of BIG Y. In both cases the men tested positive. These positive tests allowed these two fellow travelers to document their journey down the SNP flow from yAdam to SNP Z16891. 

This process provided a very inexpensive option compared to the first class ticket for the BIG Y. It is also less helpful to the discovery process. These men also did not get a list of SNPs below Z16891 that could turn out to be terminal SNPs that uniquely identify their specific families.

It is hoped that the testing panels now being developed will be another avenue for more men to get involved in SNP testing -- something between the vast BIG Y and the narrowly focused individual SNP tests. If those come on line over the next few months, we then will be looking at ways to test potentially terminal SNPs for individual families that may become the 21st century equivalent of 17th century coats of arms. 

NextGen Sequencing and yDNA: Part 2

This post is a continuation of my post two days ago.

Within the last week several events have occurred to flesh out our small project. This is exciting but it also will take a while to absorb this influx of new data and make sense out of it all. However, relationships are emerging among project members -- some of whom had previously appeared to be living alone on almost deserted ySNP islands.

The results of an additional BIG Y kit has come back. This connected two men with at least several recent generations of documented French descent. Although they still may not have a common ancestor in genealogical times, their match appears to be within the last millennium. For one of these men whose father was adopted, this is encouragement that he is on the right track in pursuing some ySTR matches who are also of French ancestry.

One member has received Sanger confirmation through ySeq that his S1026 result from NextGen sequencing was correct. Although this analogy is very crude, NextGen sequencing is the equivalent to taking images from a space satellite. On the other hand, Sanger technology would be like driving to a specific location on earth and recording an image. 

NextGen sequencing is much faster for scanning large areas particularly those which may be almost inaccessible or those which have coordinates which were previously inexact or even unknown. It is great for discovery. 

On the other hand Sanger technology can be targeted precisely to one specific location (SNP or STR) and is considered to be much more reliable. The down side it is much more expensive drive around on the surface of our genomes and record a series of images that could be stitched together to form a coherent map. It is much faster and cost effective to start with satellite images. 

Two men who previously had close ySTR matches with others who had previous BIG Y results have tested a single downstream SNP through Sanger technology through FTDNA and confirmed they belong in this project. These men were able to target a specific SNP that had been identified by the BIG Y results of someone with whom STR results had previously suggested a distant relationship did exist. Thus at the cost of a single SNP test, these two men were able to confirm that their SNP trail takes time down into historical times and perhaps to the beginning of the genealogical era. 

One project member got this week, after a wait of three and a half months, his Chromo2 results from ScotlandsDNA. The early examination of the results confirmed that he did belong to R1b-S1026. It was in fact this test that identified and named a SNP at location 19201991 as being S1026. That is where the "S" came from in the naming protocol.

All of these results coming back within the same week has energized our tiny project which now only has a baker's dozen of confirmed members. However, it will take us a while to puzzle over what it all means and what our next steps should be to continue to trace our diverging trails down into genealogical time and hopefully connect with the documented genealogies of specific families.  

But now I must tear myself away from all this and fly to Houston today for Family Tree DNA's 10th Annual Conference on Genetic Genealogy. Don't you just hate it when your opportunities to learn more about genetic genealogy compete for your time to actually do genetic genealogy? I know, I know. I should just be grateful for my opportunities. And I am. 

NextGen Sequencing and yDNA

Genetic genealogy got its start in 2000 and yDNA dominated the first decade. mtDNA entered the scene late in that decade but has two difficulties to overcome. The first is that it is a fairly blunt instrument with only 16,569 locations to differentiate among all of us. It is good for deep ancestry but has yet to demonstrate it has potential to differentiate among related individuals. Second, to date there there have not been hundreds of thousands test their complete mitochondria -- the only level at which mtDNA seems to have much genealogical value.

By 2010 23andMe and FTDNA led the way into exploring the largest areas of our DNA -- the autosomes. These two pioneers were joined in this marketplace in 2012 by AncestryDNA. Now more than a million atDNA test kits have been sold by these three companies and the pace is accelerating. 

Autosomal DNA is great for defining close relationships -- at least when those relationships have existed within the last several few generations. Therefore it can be very useful to genealogists. However, since it is recombined in each intergenerational transfer, it soon loses its power of discernment as we investigate backward in time. This is the hottest growth area in DNA testing for genealogy and likely will continue to be so for some time. Women are on equal footing when it comes to testing autosomes.

In 2014 yDNA is making a comeback. It offers by far the longest segments of unrecombined DNA in our genomes. Therefore, it offers the best tool for looking into our deep ancestry. Although it may seem politically incorrect to say so, the less than seventeen thousand locations on our mtDNA cannot begin to be as informative as the more that fifty million locations on our yDNA. Unfortunately only men can be tested. NextGen sequencing technology is now making it possible to read SNPs at several million locations on our yDNA. This far exceeds the hundred or so ySTRs that were being sequenced by earlier technology just a couple of years ago. 

As a result of NextGen technology, tests like BIG Y, Full Y and Chromo2 have burst onto the scene. Although the prices of such tests are already coming down somewhat, they are still pricey compared to atDNA tests. However, the amount of data that they discover will take us a while to fully organize and analyze. 

Traditional genealogy emphasized starting with the present and building carefully and methodically back into the past inhabited by our ancestors. These new tests have allowed us to reverse our focus and work from prehistory down toward genealogical times. In a few cases they have already allowed us to intersect with our traditional documentary research. This trend will greatly accelerate as we get more skillful at interpreting the information written in our yDNA.

Even in earlier and simpler times we could begin to sketch the flow of our ySNPs from yADAM down toward the present. Five years ago I was offered an overview of how my SNPs and thus my paternal ancestors had migrated down to the last several thousand years. Below is how deCODEme illustrated my paternal descent down to haplogroup R1b -- the largest in Europe:

[Click on the chart to expand.]

The SNP tsunami that flows from these powerful new tests is allowing us to fill in gaps in charts like the one above. More importantly they are allowing us to build down toward the present. I will extend this SNP flow down to the last millennium in my next post.









   

FTDNA End of Summer Sale

I'm happy to pass along this notice which just appeared in my email box because we all benefit when more people are tested and the databases of potential matches grow bigger:

Dear Beloved Bloggers, We hope you've had a great summer!  As the season draws to a close, join us for one last celebration with our End of Summer Y-DNA Sale!  Customers can order a Y-DNA test and join the world's largest Y-DNA database today.  All Y-DNA tests and upgrades have been marked down for significant savings! Time is limited.  The sale ends 9/3/2014. As an added bonus, Big Y is also on sale for just $495.  Big Y coupons acquired during the Father's Day Sale can be used on Big Y orders placed during the End of Summer Sale.  With Big Y, 340,000 years of Y-DNA ancestry is just a test away!

Standard Tests Regular Price Sale Price Y-37 $169 $129 Y-67 $268 $199 Y-111 $367 $279 Big Y $595 $495   Upgrades Regular Price Sale Price Y-12 -> Y-37 $99 $70 Y-12 -> Y-67 $189 $148 Y-12 -> Y-111 $339 $239 Y-25 -> Y-37 $49 $35 Y-25 -> Y-67 $148 $114 Y-25 -> Y-111 $249 $209 Y-37 -> Y-67 $99 $79 Y-37 -> Y-111 $220 $179 Y-67 -> Y-111 $129 $109