The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning. I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.
Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well. It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.
Bennett opened the second day after the ISOGG meeting.
“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.
Bennett told the story of the beginning of Family Tree DNA. “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.” Smart woman, and thankfully for us, he went. But he had a roadblock. He felt there was a possibility that he could use the Y chromosome to solve the roadblock. Bennett called the author of one of the two papers published at that time, Michael Hammer. He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport. He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done. Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.” Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.” Let’s just say Bennett was no longer unemployed and the rest, as they say, is history. With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.
Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe
Michael has been at all of the conferences. He says he doesn’t think we’re crazy. I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy. But it obviously has rubbed off on him, because today, he had a real shocker for us.
I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something. He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.
Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.
Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.
Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.
The first anatomically modern humans migrated from Africa about 45,000 years ago.
After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.
Neolithic farmers arrived from the near east beginning 10,000 years ago.
Farmers had an advantage over hunter gatherers in terms of population density. People moved into Northwestern Europe about 5,000 years ago.
What did the various expansions contribute to the population today?
Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.
The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.
It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.
In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion. They did find that most basic structure of R tree did come from the near east. They looked at P311 as marker for expansion into Europe, wherever it was. Here is a summary page of Neolithic Europe that includes these studies.
Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time. However, it appears that he and most everyone else, was wrong.
The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture. If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.
Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature. There were 4 primary locations with skeletal remains. There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.
All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.
In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.
In Spain, 5 G2a and 1 E1b.
In Germany, 1I G2a and 2 F*.
Otzi is haplogroup G2a2b.
There was absolutely 0, no, haplogroup R of any flavor.
In modern samples, of 172 samples, 94 are R1b.
To evaluate this, he is dropping back to the backbone of haplogroup R.
This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago. This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.
This same pattern does not extrapolate to mitochondrial DNA where there is continuity.
What conferred advantage to these post Neolithic men? What was that advantage?
Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.
- U106 is clustered in Germany
- L21 clustered in the British Isles
- U152 has an Alps epicenter
This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.
Archaeological studies produce patterns similar to the hap epicenters.
What kind of model is going on for this expansion?
Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.
This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.
To make things even more interesting, the base tree that includes R has also been shifted, dramatically.
Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.
It has been broken into 4 major branches from several individual lineages – widely shifted clades.
Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.
Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.
R then, populated Europe in the last 4000 years.
How did these Asians get to Europe and why?
Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe. If you are shaking your head right about now and saying “huh?”…so were we.
Here is Dr. Hammer’s revised map of haplogroup dispersion.
Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.
For example, the R1bs of the British Isles.
There are many clades under L 21. For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.
New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.
For example, there are 32 new SNPs under M222 which will help at a genealogical level.
These SNPs must have arisen in the past couple thousand years.
Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs. The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.
G2a is currently 4-5% of the population in Europe today and R is more than 40%.
Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe
Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA
Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps. She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.
Finland has the population of Minnesota and is the size of New Mexico.
There are 3750 Finland project members and of them 614 are haplogroup N1c1.
Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.
Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.
Some of the interest in Finland’s DNA comes from migration which occurred to the United States.
Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate. The administrator’s role has also changed on social media as opposed to just a FTDNA project admin. Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”
Marja has done an excellent job of motivating her project members. They are very active within the project but also on Facebook, comparing notes, posting historical information and more.
Session 3 – Jason Wang – Engineering Roadmap and IT Update
Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.
Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.” He notes that they have added people since last year in addition to the Arpeggi acquisition.
Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.
Elliott began manually scoring mitochondrial DNA tests at age 15. He joined FTDNA in 2006 officially.
Year in review and What’s Coming
4 times the data processed in the past year.
Uploads run 10 times faster. With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.
FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern. They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.
Focus on users uploading the family tree. Tools don’t matter if the data isn’t there. In order to utilize the genealogy aspect, the genealogy info needs to be there. Will be enhancing the GEDCOM viewer. New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.
They are now adding a SNP request form so that you can request a SNP not currently available. This is not to be confused with ordering an existing SNP.
They currently utilize build 14 for mitochondrial DNA. They are skipping build 15 entirely and moving forward with 16.
They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.
New Y tree will be released shortly as a result of the Geno 2.0 testing. Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness. This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.
New 2014 tree has 6200 SNPS and 1000 branches.
- Commitment to take genetic genealogy to the next level
- Y draft tree
- Constant updates to official tree
- Commitment to accurate science
If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.
If 3 or 4 people have the same SNP that are not related it will go directly to the tree. This is the reason for the new SNP request form.
Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.
When they find a new SNP, where does it go on the tree? When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement. For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.
Matching differential is huge in early testing. One child may inherit as little as 20% of the X and another 90%. Some first cousins carry none.
X matching will be an advanced feature and will have their own chromosome browser.
End of the year – January 1. Happy New Year!!!
It’s definitely in need of an upgrade and have assigned one person full time to this product.
There are a few contention points that can be explained through standard history.
It’s going to get a new look as well and will be easily upgradeable in the future.
They cannot utilize the National Geographic data because it’s private to Nat Geo.
Bennett – “Committed to an engineering team of any size it takes to get it done. New things will be rolling out in first and second quarter of next year.” Then Bennett kind of sighed and said “I can’t believe I just said that.”
Session 4 – Dr. Connie Bormans – Laboratory Update
The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.
Between these various accreditations, they are inspected and accredited once yearly.
Working to decrease turn-around time.
SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.
Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.
New customer support software and new procedures to triage customer requests.
Implement new scoring software that can score twice as many tests in half the time. This decreases turn-around time to the customer as well.
New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.
Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.
Session 5 – Maurice Gleeson – Back to Our Past, Ireland
Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013. Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now. Hopefully this will help people with Irish ancestry.
12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!
They developed a website titled Genetic Genealogy Ireland 2013. Their target audience was twofold, genetic genealogy in general and also the Irish people. They posted things periodically to keep people interested. They also created a Facebook page. They announced free (sponsored) DNA tests and the traffic increased a great deal. Today ISOGG has a free DNA wiki page too. They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.
2000-5000 people passed by the booth
500 people in the booth
Sold 99 kits – 119 tests
45 took Y 37 marker tests
56 FF, 20 male, 36 female
18 mito tests
They passed out a lot of educational material the first two days. It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.
They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views. Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.
This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.
Session 6 – Brad Larkin – Introducing Surname DNA Journal
Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test. That’s his minute or two of fame! I knew he looked familiar.
Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published. It’s free, open access, web based and the author retains the copyright.. www.surnamedna.com
Conceived in 2012, the first article was published in January 2013. Three papers published to date.
Encourage administrators to write and publish their research. This helps the publication withstand the test of time.
Most other journals are not free, except for JOGG which is now inactive. Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.
Peer review is important. It is a critical review, a keen eye and an encouraging tone. This insures that the information is evidence based, correct and replicable.
Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist
This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person. We discussed how to effectively use mtdna results and what they really mean. And you just never know what you’re going to discover. Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line. WooHoo!!
FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.
After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.
Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments. As they work with the Big Y chip, if the STRs are there, then they will be reported.
80% of FTDNA orders are from the US.
Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.
Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.
That’s it folks. We took a few more photos with our friends and left looking forward to next year’s conference. Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike. Front row, left to right, me and Bennett Greenspan.
See y’all next year!!!