2013 Family Tree DNA Conference Day 1

Posted on November 11, 2013 by Roberta Estes

This article is probably less polished than my normal articles. I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write. So you’re getting a spruced up version of my notes. There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do. Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry. Max thought about this and said, really, not. Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10^th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years. The list included about 20 or so early adopters. They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators. A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved. When Max noted the admins who were leaders and are no longer with us, he could barely speak. There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming. Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time. Her list of degrees would take a page or so. She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card. Then two months ago, Amy wound up sitting next to Max on another airplane. It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers. You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy? How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here. There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013. I blogged about this at the time.

She spoke a bit about the history of this issue.

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA? This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together. Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor. Is this a good thing or a bad thing? Some feel that it’s unethical and an invasion of the privacy of the father. But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved. DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely. Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907. These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation. “Three generations of imbeciles is enough.” I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names. The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived. Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options. 53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release. She notes that these were highly motivated people enrolled in a clinical study. Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant. Most people said they would participate if they were simply asked. So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this. I know several people who refused to participate in a research study because their results would not be returned to them personally. All they wanted was information and to be treated respectfully.

What the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well. What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status. It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA. He has two children. How does this affect his children? Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information. Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”. Henrietta Lacks was a poor African-American woman with ovarian cancer. At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research. She was never informed or released anything, but then they were following the protocols of the time. From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished. The genome was eventually fully sequenced and published. Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family? And how does or should this affect policy?

How does this affect genetic genealogy? Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics? Should you have to talk to family members before anyone DNA tests? Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy? How about when the original tester dies? Who has what rights and interests? What about the unborn? What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components. Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over. However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test. Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved. However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well. This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents. Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project. More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years. More than 360 ancient samples were collected across several different time periods. There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially. That’s for sure. “We are reshaping the tree in an enormous way.” What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year. The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree. Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.” This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging. I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA. Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population. This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America. Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years. Papers are coming within the next year about this.

They anticipate that interest will double within the next year. They expect that based on recent discoveries, the 2015 Y tree will be much larger yet. Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.” The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science. Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement. He contacted his birth mother as an adult. She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not. Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’ With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4^th grandparent by process of elimination. While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA. Here, Matt is discussing his children’s inheritance.

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why. Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous. The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds. Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue. Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives. This means that FTDNA’s Jewish “correction” seems to be working quite well. Of course, they do have a great family group with which to calibrate their product. Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish. The non-Jewish group had almost exactly the opposite results.

Jewish people have from 1500-2100 matches.
Interfaith 700-1100 (Jewish and non)
NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project. Jewish people match both Jewish and Interfaith families. NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting. This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried. One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions. Furthermore, the Jewish community has been endogamous longer than some of the other groups. Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable. I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central. In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held. There were several topics. Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended. We had a wide range of expertise in the group and answered many questions. One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well. In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups. This means they are listed on the “tree.” So sometimes public and private can simply be a matter of timing and discovery.

Here’s Bennett leading another roundtable discussion.

Session 7 – Dr. David Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur. He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition. He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology. Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y. It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well. Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers. This is not a test that a new customer would ever order. The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit. We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time. We all bring food or drink and sometimes pitch in to rent the room. We also spill out into the hallways where our impromptu “meetings” generally happen. And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see. Do we know how to party or what???

Here’s Linda Magellan working hard during the reception. I think she’s ordering the Big Y actually. We had several orders placed by admins during the conference.

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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Ancestor of Native Americans in Asia was 30% “Western Eurasian”

Posted on October 25, 2013 by Roberta Estes

The complete genome has recently been sequenced from 4 year old Russian boy who died 24,000 years ago near Lake Baikal in a location called Mal’ta, the area in Asia believed to be the origin of the Native Americans based on Y DNA and mitochondrial chromosome similarities. The map below, from Science News, shows the location.

This represents the oldest complete genome ever sequenced, except for the Neanderthal (38,000 years old) and Denisovan (41,000 years old).

This child’s genome shows that he is related closely to Native Americans, and, surprisingly, to western Asians/eastern Europeans, but not to eastern Asians, to whom Native Americans are closely related. This implies that this child was a member of part of a “tribe” that had not yet merged or intermarried with the Eastern Asians (Japan, China, etc.) that then became the original Native Americans who migrated across the Beringian land bridge between about 15,000 and 20,000 years ago.

One of the most surprising results is that about 30% of this child’s genome is Eurasian, meaning from Europe and western Asia, including his Y haplogroup which was R and his mitochondrial haplogroup which was U, both today considered European.

This does not imply that R and U are Native American haplogroups or that they are found among Native American tribes before European admixture in the past several hundred years. There is still absolutely no evidence in the Americas, in burials, for any haplogroups other than subgroups of Q and C for males and A, B, C, D, X and M (1 instance) for females. However, that doesn’t mean that additional evidence won’t be found in the future.

While this is certainly new information, it’s not unprecedented. Last year, in the journal Genetics, an article titled “Ancient Admixture in Human History” reported something similar, albeit gene flow in a different direction. This paper indicated gene flow from the Lake Baikal area to Europe. It certainly could have been bidirectional, and this new paper certainly suggests that it was.

So in essence, maybe there is a little bit of Native American in Europeans and a little bit of European in Native Americans that occurred in their deep ancestry, not in the past 500-1000 years.

What’s next? Work continues. The team is now attempting to sequence genomes from other skeletons from west of Mal’ta, East Asia and from the Americas as well.

You can read the article in Science Magazine. An academic article presenting their findings in detail will be published shortly in Nature.

A Podcast with Michael Balter can be heard here discussing the recent discovery.

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Ethnicity Results – True or Not?

Posted on October 4, 2013 by Roberta Estes

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I can’t even begin to tell you how many questions I receive that go something like this:

“I received my ethnicity results from XYZ. I’m confused. The results don’t seem to align with my research and I don’t know what to make of them?”

In the above question, the vendors who are currently offering these types of results among their autosomal tests are Family Tree DNA, 23andMe and Ancestry along with National Geographic who is a nonprofit. Of those four, by far, Ancestry is the worst at results matching reality and who I receive the most complaints and comments about. I wrote an article about Ancestry’s results and Judy Russell recently wrote an article about their new updated results as did Debbie Kennett. My Ancestry results have not been updated yet, so I can’t comment personally.

Let’s take a look at the results from the four players and my own analysis.

Some years back, I did a pedigree analysis of my genealogy in an attempt to make sense of autosomal results from other companies.

This paper, Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X Chromosomal Testing Data Combined with Pedigree Analysis was published in the Fall 2010 issue of JoGG, Vol. 6 issue 1.

The pedigree analysis portion of this document begins about page 8. My ancestral breakdown is as follows:

Geography	Percent
Germany	23.8041
British Isles	22.6104
Holland	14.5511
European by DNA	6.8362
France	6.6113
Switzerland	.7813
Native American	.2933
Turkish	.0031

This leaves about 25% unknown. However, this looks nothing like the 80% British Isles and the 12% Scandinavian at Ancestry.

Here are my current ethnicity results from the three major testing companies plus Genographic.

Ancestry

80% British Isles

12% Scandinavian

8% Uncertain

Family Tree DNA

75% Western Europe

25% Europe – Romanian, Russian, Tuscan, Finnish

23andMe (Standard Estimate)

99.2% European

0.5% East Asian and Native American

0.3% Unassigned

Genographic 2.0

Northern European – 43%

Mediterranean – 36%

Southwest Asian – 18%

Why Don’t The Results Match?

Why don’t the results match either my work or each other?

1. The first answer I always think of when asked this question is that perhaps some of the genealogy is incorrect. That is certainly a possibility via either poor genealogy research or undocumented adoptions. However, as time has marched forward, I’ve proven that I’m descended from most of these lines through either Y-line, mitochondrial DNA or autosomal matches. This confirms my genealogy research. For example, Acadians were originally French and I definitely descend from Acadian lines.

2. The second answer is time. The vendors may well be using different measures of time, meaning more recent versus deep ancestry. Geno 2.0 looks back the furthest. Their information says that “your percentages reflect both recent influences and ancient genetic patterns in your DNA due to migrations as groups from different regions mixed over thousands of years. Your ancestors also mixed with ancient, now extinct hominid cousins like Neanderthals in Europe and the Middle East of the Denisovans in Asia.”

It’s difficult to determine which of the matching populations are more recent and which are less recent. By way of example, many Germans and others in eastern Europe are descendants of Genghis Khan’s Mongols who invaded portions of Europe in the 13^th century. So, do we recognize and count their DNA when found as “German,” “Polish,” “Russian,” or “Asian?” The map below shows the invasions of Genghis Khan. Based on this, Germans who descend from Genghis’s Mongols could match Koreans on those segments of DNA. Both of those people would probably find that confusing.

3. The third answer is the reference populations. Here is what National Geographic has to say: “Modern day indigenous populations around the world carry particular blends of these regions. We compared your DNA results to the reference populations we currently have in our database and estimated which of these were most similar to you in terms of the genetic markers you carry. This doesn’t necessarily mean that you belong to these groups or are directly from these regions, but that these groups were a similar genetic match and can be used as a guide to help determine why you have a certain result. Remember, this is a mixture of both recent (past six generations) and ancient patterns established over thousands of years, so you may see surprising regional percentages.”

Each of the vendors has compiled their own list of reference populations from published material, and in the case of National Geographic, as yet unpublished material as well.

If you read the fine print, some of these results that at first glance appear to not match actually do, or could. For example, Southwest Asia (Geno 2.0) could be Russia (Family Tree DNA) or at least pointing to the same genetic base.

This video map of Europe through the ages from 1000AD to present will show the ever changing country boundaries and will quickly explain why coming up with labels for ethnicity is so difficult. I mean, what exactly does “France” or “Germany” mean, and when?

4. The fourth answer is focus. Each of these organizations comes to us as a consumer with a particular focus. Of them, one and only one must make their way on their own merits alone. That one is Family Tree DNA. Unlike the Genographic Project, Family Tree DNA doesn’t have a large nonprofit behind them. Unlike 23andMe, they are not subsidized by the medical community and venture capital. And unlike Ancestry.com, Family Tree DNA is not interested in selling you a subscription. In fact, the DNA market could dry up and go away for any of those three, meaning 23andMe, National Geographic and Ancestry, and their business would simply continue with their other products. To them, DNA testing is only a blip on a spreadsheet. Not true for Family Tree DNA. Their business IS genetic genealogy and DNA testing. So of all these vendors, they can least afford to have upset clients and are therefore the most likely to be the most vigilant about the accuracy of their testing, the quality of the tools and results provided to customers.

My Opinion

So what is my personal opinion on all of this?

I think these ethnicity results are very interesting. I think in some way all of them are probably correct, excluding Ancestry. I have absolutely no confidence in Ancestry’s results based on their track record and history, lack of tools, lack of transparency and frustratingly poor quality.

I think that as more academic papers are published and we learn more about these reference populations and where their genes are found in various populations, all of these organizations will have an opportunity to “tighten up” their results. If you’ll notice, both Ancestry and Family Tree DNA still include the words “beta.” The vendors know that these results are not the end all and be all in the ethnicity world.

Am I upset with these vendors? Aside from Ancestry who has to know they have a significant problem and has yet to admit to or fix it, no, I’m not. Frustrated, as a consumer, yes, because like all genealogists, I want it NOW please and thank you!!!

Without these kinds of baby steps, we will never as a community crawl, walk, or run. I dream of the day when we will be able to be tested, obtain our results, and along with that, maybe a list of ancestors we descend from and where their ancestors originated as well. So, in essence, current genealogy (today Y-line and mtdna), older genealogy (autosomal lines) and population genetics (ethnicity of each line).

So what should we as consumers do today? Personally, I think we should file this information away in the “that’s interesting” folder and use it when and where it benefits us. I think we should look at it as a display of possibilities. We should not over-interpret these results.

There is perhaps one area of exception, and that is when dealing with majority ethnic groups. By this, I mean African, Asian, Native American and European. For those groups, this type of ethnicity breakdown, the presence or absence of a particular group is more correct than incorrect, generally. Very small amounts of any admixture are difficult to discern for any vendor. For an example of that, look at my Native percentages and some of those are proven lines. For the individual who wants more information, and more detail into the possibilities, I wrote about how to use the raw autosomal data outside of the vendors tools, at GedMatch, to sort out minority admixture in The Autosomal Me series.

Perhaps the Genographic Project page sums it up best with their statement that, “If you have a very mixed background, the pattern can get complicated quickly!” Not only is that true, it can be complicated by any and probably all of the factors above. When you think about it, it’s rather amazing that we can tell as much as we can.

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5,500 Year Old Grandmother Found Using DNA

Posted on July 10, 2013 by Roberta Estes

Members of the Metlakatla First Nation Community near Prince Rupert, BC who collaborated with an international team of scientists in a genetic study of aboriginal people, including excavated remains that link them to their 5,500 year old Grandmother. Photograph/handout courtesy of the Metlakatla Treaty Office.

Over the past decade or so, there has been a lot of debate about tribal participation in DNA testing. Without getting into the politics of the situation which is deep and dangerous water, many tribes see absolutely no possibility that DNA testing could help them, and a significant potential that it might hurt them, one way or another.

For example, we know that the Eastern tribes were heavily admixed with Europeans quite early and we know that the Southwest tribes are equally admixed with the Spanish. Yet, they are still Native tribes, carrying on the Native customs and cultures, including their own creation and other sacred stories.

Let’s say that a few tribal members test, and their DNA turns out not to be Native, but is European, or African. Granted, the DNA would only be representative of one genealogical line, either the direct paternal (surname) line for males and the direct maternal line for both males and females, but still, if you expect Native and you get something else – it could be bothersome, and perhaps troublesome. Add to that a historical situation filled with distrust for a government that routinely broke treaties and you have a situation where tribes would just as soon not open Pandora’s box, thank you very much.

However, not all tribes think this way. For the past several years, people from Canada’s First Nations tribes have been working with scientists not only to test their DNA, but that of their ancestors as well. Recently, a paper was published detailing the findings, but those findings didn’t really say much about the effects of the results on the currently living people and tribes involved.

The Vancouver Sun recently carried a human interest story focused on the Metlakatla First Nation Community and the people who were found to be related to the 5,500 year old bones that DNA was extracted from.

The people involved who descend from either this woman or a common ancestor with her are thrilled to be able to make that connection from some 220 generations ago, to be able to honor her as their Grandmother, and the connection cements the fact that these people’s ancestors were indeed on this same land at least 5,500 years ago, not far from where they live today.

This kind of information has great potential to help the tribes involved with land claims and treaty rights. These deep rooted links to the region simply cannot be denied. So the First Nations people stand to benefit, the people who match the Grandmother are thrilled, science benefits and they have the ability to confirm their own stories told by the Ancestors for centuries, indeed, for thousands of years. Sounds like a win-win situation to me.

Congratulations to these First Nations people for this wonderful link to a Grandmother, for their brave participation and leadership role in scientific study, and for not being afraid of finding the truth, whatever it is. The Ancestors would be proud of you!

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Ancient DNA Analysis From Canada

Posted on July 4, 2013 by Roberta Estes

Recently a new academic paper focused on Native American ancestry hit the news. Ripan Malhi’s molecular anthropology and ancient DNA lab at the University of Illinois, shown above, in Urbana, Illinois has successfully extracted DNA from remains of individuals whose bones were found in an ancient trash heap in British Columbia and has successfully matched the DNA with living people today, confirming of course that today’s people were related to these ancient people and are a part of the same base population that lived there 5000-6000 years ago and remains today.

Ripan’s paper, “Ancient DNA Analysis of Mid-Holocene Individuals from the Northwest Coast of North America Reveals Different Evolutionary Paths for Mitogenomes” discusses this in detail. If you’re not up to this level of detail, a nice article in LiveScience covers the discovery as well.

Ripan has successfully connected the dots between the fossilized remains and currently living members of several Native tribes local to the region where the bones were found.

As part of this study, three new mitochondrial haplogroups were discovered in the Native population. Two haplogroups, A2ag and A2ah are found alive and well today. However, another, D4h3a7 has only been found one other time, in remains found in a cave in Alaska, and may have gone extinct. It has not been found in living people to date, although a lot of people have yet to be tested.

The area where the remains were found is indigenous to the Tsimshian, Haida and Nisga’a tribes.

Today, local tribes are participating in additional research with Dr. Malhi in order to better understand their ancestry and to see if the genetic data supports their extensive oral history which suggests multiple migration waves from Asia into the Americas within the past 5000 years.

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Family Tree DNA Research Center Facilitates Discovery of Ancient Root to Y Tree

Posted on March 26, 2013 by Roberta Estes

The genetic genealogy community has been abuzz for months now with the discovery of the new Root of the Y tree. First announced last fall at the conference for DNA administrators hosted by Family Tree DNA, this discovery has literally changed the landscape of early genetic genealogy and our understanding of the timeframe of the origins of mankind. While it doesn’t make much difference in genetic genealogy in the past few generations, since the adoption of surnames, it certainly makes a difference to all of us in terms of our ancestors and where we came from – our origins. After all, the only difference between current genetic genealogy and the journey of mankind is a matter of generations – and all of our ancestors were there, and survived to reproduce, or we wouldn’t be here.

One of the important aspects of this discovery is the collaboration of citizen scientists with academic institutions and corporations. In this case, the citizen scientist was Bonnie Schrack, a volunteer haplogroup project administrator, Dr. Michael Hammer of the University of Arizona, National Geographic’s Genographic Project, and Thomas Krahn and Astrid Krahn, both with the Gene by Gene Genomics Research Center. Without any one of these players, and Family Tree DNA’s support of projects, this discovery would not have been made. This discovery of the “new root” legitimizes citizen science in the field of genetic genealogy and ushers in a new day in scientific research in which crowd sourced samples, in this case, through Family Tree DNA projects, provide clues and resources for important scientific discoveries.

Today Gene by Gene released a press release about the discovery of the new root. In conjunction, Family Tree DNA has lowered their Y DNA test price to $39 for the introductory 12 marker panel for the month of March, hoping to attract new participants and to eliminate price as a factor. On April 1, the price will increase to $49, still a 50% discount from the previous $99. Who knows where that next discovery lies. Could it be in your DNA?

Family Tree DNA’s Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

HOUSTON, March 26, 2013 /PRNewswire/ — Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic’s Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report “An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree” in The American Journal of Human Genetics earlier this month. The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene’s advisory board, and two of the company’s staff scientists, Drs.Thomas and Astrid-Maria Krahn.

The DNA sample had originally been submitted to National Geographic’s Genographic Project, the world’s largest “citizen science” genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA’s database for genealogical research. Once in Family Tree DNA’s database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

“This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products,” said Gene By Gene President Bennett Greenspan. “While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing. The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution.”

The discovery took place at Family Tree DNA’s Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project. Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company’s Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations. Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

“Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago,” said Dr. Michael Hammer. “Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade. This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise.”

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%. By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research. They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

SOURCE Gene By Gene, Ltd.

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Thick Hair, Small Boobs, Shovel Shaped Teeth and More

Posted on February 17, 2013 by Roberta Estes

Yep, there’s a gene for these traits, and more. The same gene, named EDAR (short for Ectodysplasin receptor EDARV370A), it turns out, also confers more sweat glands and distinctive teeth and is found in the majority of East Asian people.

This is one of the results of the National Geographic’s Genographic project. This mutation found at location rs3827760 on chromosome 2 occurred about 35,000 years ago. It apparently has conferred some advantage to its carriers, because it is found in the majority of Asian people today. We don’t exactly know why that happened, but maybe ancient male Asians preferred thick haired, small boobed and sweaty women. Or maybe those women survived when women with more body fat (yes, boobs are fat, sorry guys) and who could sweat less perished.

This New York Times article discusses the experiments performed to verify that this gene in fact does confer those traits. The scientific article itself is available in the journal, Cell although it’s behind a paywall.

Want to know if you carry this trait? If you’ve tested with either Family Tree DNA or 23andMe, you’re in luck.

Download your raw results file and open the file using any tool. Generally, a spreadsheet or Notepad will be your preferred methods. Then using the search function of the tool you’ve selected (ctl+f for Notepad or Excel’s find function) search for rs3827760. You will see two letters comprised of either T, A, C or G. If you have a G shown for either letter at this location, then you carry this particular mutation.

If you carry this mutation, you’ve probably already headed for the mirror. You’ll know already if you have small breasts, if you’re a female, believe me. You may never have thought about thick hair shafts, which isn’t to be confused with lots of hair. And your level of sweatiness is just what it is. I’ve never even considered that there were different sweatiness levels. But what about Asian teeth? Well, that trait is called sinodonty and here’s a nice wiki article and another nice article, with examples, here. If your teeth are shovel shaped, meaning the backs of your upper 4 teeth are shaped like a spoon as opposed to straight, then you have this trait.

So are you wondering what this might have to do with genetic genealogy? Well, if you carry this gene, then you obtained it from some Asian ancestor. If you’re in America and not of Asian ancestry, then there are pretty much only two routes. One would be Native American ancestry and the second would be the population or invasion of Europe by Asian groups, such as the Mongol Hordes and the Huns. Your genealogy will have to be your guide as to which source contributed this gene to your ancestors, and ultimately to you.

Oh yes, and one last thing, this mutation isn’t the only one involved in at least some of these traits, specifically the teeth. I don’t carry the G and I do have some of the Asian teeth characteristics. I don’t have thick hair shafts which makes sense since EDAR is primarily associated with this trait. And, well, I’m just not discussing the boobs and sweaty traits (and my husband is utterly forbidden to comment)…..TMI:)

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What is a Haplogroup?

Posted on January 24, 2013 by Roberta Estes

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Sometimes we’ve been doing genetic genealogy for so long we forget what it’s like to be new. I’m reminded, sometimes humorously, by some of the questions I receive.

When I do DNA Reports for clients, each person receives a form to complete with a few questions designed to give them the opportunity to tell me what their testing goals are and to ask any questions they might have. One woman asked, “Can you tell me about my psychogroup?”

I thought that psychogroup was particularly appropriate for a cluster of genealogists, especially genetic genealogists, but decided I had better let that one go.

Then there was the person who wanted to know about their hologroup. I wondered if I needed 3D glasses for that one.

Someone else wondered about their helpgroup. I couldn’t help but think of introducing myself, “Hello, my name is Roberta and I’m a member of haplogroup J.” Kinda gives new meaning to “what’s your sign?”

Then there was the person who though it was a Biblical reference, Holygroup and wanted to know how they connected to Biblical folks. Well, we do talk about Y-line Adam and Mitochondrial Eve, so why wouldn’t someone ask that?

My favorite, though is the person who gave this reason for leaving a haplogroup project, “not my glopo.” Hey, at least they realized that, as opposed to the person who called me a member of the KKK for suggesting that they did not belong in a particular project. I found that to be particularly humorous, given my ethnic mix, heritage and family.

But today, when my cousin asked me if a haplogroup follows the mitochondrial DNA, I decided it was time to talk about what a haplogroup is, a little history, and why we use them. And Shanen, thanks for asking!

Think of a haplogroup as an ancestral clan, a large family, like the Celts, or Vikings. These would be larger than Native American tribes, encompassing members of many tribes. There are two male Native American haplogroups that include all Native American males. There are a few more African clans, or haplogroups, but not many.

There are clans for the Y chromosome, which is of course tested by the Y DNA test at Family Tree DNA and generally follows the paternal surname up and down the tree. Y DNA is passed from father to son, only, through the Y chromosome which only males possess.

There are also clans for mitochondrial DNA, tested by the mtDNA tests at Family Tree DNA, which follows the direct maternal line up your family tree. This means your mother, her mother, her mother, etc. Woman give their mitochondrial DNA to all of their offspring, males and females, but only females pass it on.

You can see the Y-line, paternal (blue) and mitochondrial, maternal (red), lines on the pedigree chart below.

Companies like 23andMe and the Geno 2.0 project provide haplogroups for both Y-line and mitochondrial DNA, but neither of them test personal mutations that allow you to compare your mutations against those of other people for genealogical matches. The regular Y-line and mitochondrial tests at Family Tree DNA do that. In addition, both also provide your haplogroup or clan designation.

A new haplogroup is born when a very specific new mutation occurs. All descendants will carry that mutation. That mutation defines that haplogroup. So if a new haplogroup is born today, we wouldn’t know it was a haplogroup until hundreds or thousands of years later when we see that lots of people have this same mutation from a single individual. As you might imagine, many haplogroups over the ages have died out, but some have been very successful as evidenced by the fact that we are all here today! Roughly half of the European men carry Y haplogroup R and mitochondrial haplogroup H is found in nearly 50% of all Europeans – both descending, respectively, from one single person tens of thousands of years ago.

Since all of humanity, both male and female, sprang initially from Africa, the earliest haplogroups were found there. As some people moved further away and crossed into Asia and Europe, they developed unique mutations that would give rise to the European, Asian and Native American haplogroups we know today. There are 4 main groupings, African, European, Asian and Native American, but there are several subgroups within most of those main groups, except for Native Americans who only have two male haplogroups.

So in essence, haplogroups are a pedigree chart of the clans of humanity. Family Tree DNA displays a haplogroup chart with the main haplogroups shown on everyone’s personal page for Y-line DNA. They were simply named alphabetically with no connection to a word. So no, A is not A because it’s African, even though it happens to be. N is not Native American. E is not European. You get the drift. Any resemblance is purely coincidental.

Your clan, in this example, haplogroup I, is shown with an arrow. Every clan, male and female, has subclans, often known as subclades for Y DNA or subgroups for mitochondrial DNA. To see the various subgroups of I, click on the tab and voila, there they are, the subgroups of haplogroup I. Yours is the lowest one on the tree that is green, in this case I2b1a1.

Because of the dramatic new number of haplogroups recently discovered, future versions of the haplotree will be moving away from the letter based names like I2b1a1 and will only use the terminal, or lowest branch, SNP to identify a haplogroup. In this case, that would be L126 or L137 which are equivalent SNPs. So in the future this person’s haplogroup will be called I-L126 instead of I2b1a1 because L126 will never change, but the name I2b1a1 changes every time a new upstream haplogroup is discovered between the root of haplogroup I and I2b1a1 and needs to be inserted into its proper place in the tree.

As we learn more about the subgroups, each one has its own story which is somewhat different than the stories of the other subgroups. Some are evident, such as Jewish clusters, some not so much. Each clan story involves how that haplogroup came to be found where it is today. For example, haplogroup E is African, but within haplogroup E, there are two major divisions with very different stories for their clans. One group is found only in Sub-Saharan African and one is found mostly in the Middle East and the Mediterranean basin and is known colloquially as the Berber haplogroup. We’re still learning about subgroups, and with the Geno 2.0 test, the haplotree is growing exponentially.

Family Tree DNA predicts your clan, or haplogroup, with any Y-DNA test as long as you match exactly at 12 markers to someone who has been SNP tested. SNP testing is what tests for the special haplogroup defining mutations. If you don’t match, they will SNP test you for free to establish your primary haplogroup.

Many people purchase additional SNP tests to further define their Y haplogroup so that they can learn about where their ancestors were, when, and what they were doing. For example, we know that SNP M222 equates to Niall of the 9 Hostages in history. How cool is that to know!

Some years ago, Dr. Doug McDonald assembled this wonderful map of the basic haplogroups of the world. Although we’ve discovered subgroups for each haplogroup, it’s still quite valid. E3b has since been renamed E1b1b and ExE3b means haplogroup E1b1a. RxR1 means haplogroup R except R1a and R1b which have their own legend.

Mitochondrial DNA also has haplogroups, which are clans. On the drawing below, compliments of Dr. Whit Athey, it’s easier to see how the daughter clans arose, were born, and were named. Because of the naming pattern, this looks a little less like a pedigree chart and a little more like stars, planets and moons.

One difference between Y-line DNA and mitochondrial DNA clans is that although they are all currently named alphabetically, the mitochondrial clans have names. That is thanks to Dr. Bryan Sykes who wrote the book, “The Seven Daughters of Eve” published in 2001. For example, he named haplogroup H, Helena because Helena is Greek for light. He told somewhat accurate stories about each clan and although quite scientifically dated now, described the life that each clan would have lived in post-glacial Europe. This book was the first book about DNA to reach the popular reading public, and was a huge success because he humanized science and normal air-breathing humans could relate. I ordered my first mitochondrial DNA test through his company and received one page with a Sunday School gold star on the red dot for haplogroup J.

I was thrilled at the time, but times have changed a lot. Due to advances in research and new subclades being defined, thanks in large part to citizen scientists like you, I now know that I’m haplogroup J1c2f as a result of my full sequence mitochondrial DNA test.

Unlike Y-line DNA, no additional SNP test is required to fully determine your mitochondrial DNA haplogroup. When you take the full mitochondrial sequence test (mtFullSequence) at Family Tree DNA, you receive your most detailed, full haplogroup designation automatically. With the HVR1 (mtDNA) and HVR2 (mtDNAPlus) tests, you receive at least your base haplogroup. The full sequence is required to determine your full haplogroup.

To put this in perspective, think of your mitochondrial DNA as a clock face. There are a total of 16,569 locations in your mitochondrial DNA. The HVR1 test tests the number of locations from 11:55 to noon and the HVR2 test tests the number of locations between noon and 12:05PM. The full sequence test tests the rest, the balance of the 50 minutes of the hour.

Family Tree DNA is the only commercial testing company that offers the full sequence test.

As more discoveries are made for both male and female haplogroups, the subgroup names sometimes change within the clan or main haplogroup because new branches get inserted in the tree as they are discovered.

For example, from a scientific paper, here’s an early version of the haplogroup H mitochondrial phylotree which is what the haplotree is called for mitochondrial DNA.

Here’s a later version.

You wouldn’t even be able to see today’s version, because the print would have to be miniscule to fit it on the page. In Dr. Behar’s paper, “A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root” published in April 2012, the supplemental material records haplogroup H87. Most of those subgroups have subgroups of their own, like you can see above, and those that don’t today soon will as new discoveries are made.

Now that you know what a haplogroup is, there’s a lot you can do with both mitochondrial and Y-line DNA results.

Even if you do nothing more, it’s fun to identify your clan. It’s the only way of extending our genealogy back in time beyond surnames. For me, to connect my last known maternal ancestor, Elisabetha Mehlheimer, born in or near Goppsmannbuhl, Germany around 1800 to the cave paintings in Chauvet, France created about 12,000 years ago was a magical moment, a reach across time through a tenuous umbilical strand allowing me to identify and touch my 12,000 year-old ancestor. In my wildest genealogist dreams, I never dreamed this could or would ever be possible and indeed, it wouldn’t be, were it not for the genetic genealogy tools we have today.

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Decoding and Rethinking Neanderthals

Posted on January 10, 2013 by Roberta Estes

On January 9, 2013, PBS ran a wonderful documentary, Decoding Neanderthals, about Neanderthals, what we have recently discovered about them, and what it means to us as humans. There has been a lot of discussion about this topic spurred by both the 23andMe and the Geno2.0 tests that provide a percentage of Neanderthal to participants. Geno2.0 also provides a percentage of Denisovan.

Program Description:
Over 60,000 years ago, the first modern humans—people physically identical to us today—left their African homeland and entered Europe, then a bleak and inhospitable continent in the grip of the Ice Age. But when they arrived, they were not alone: the stocky, powerfully built Neanderthals had already been living there for hundreds of thousands of years. So what happened when the first modern humans encountered the Neanderthals? Did we make love or war? That question has tantalized generations of scholars and seized the popular imagination. Then, in 2010, a team led by geneticist Svante Paabo announced stunning news. Not only had they reconstructed much of the Neanderthal genome—an extraordinary technical feat that would have seemed impossible only a decade ago—but their analysis showed that “we” modern humans had interbred with Neanderthals, leaving a small but consistent signature of Neanderthal genes behind in everyone outside Africa today. In “Decoding Neanderthals,” NOVA explores the implications of this exciting discovery. In the traditional view, Neanderthals differed from “us” in behavior and capabilities as well as anatomy. But were they really mentally inferior, as inexpressive and clumsy as the cartoon caveman they inspired? NOVA explores a range of intriguing new evidence for Neanderthal self-expression and language, all pointing to the fact that we may have seriously underestimated our mysterious, long-vanished human cousins.

I’m going to share some of the highlights of the program, but this is in no way a spoiler, as the program contains lots of visual information that just can’t be conveyed by a review.

Chris Stringer from the Natural History Museum in London introduced us to the Neanderthals. It turns out that our perception of what a Neanderthal looks like is a result in large part of skeleton that was reconstructed improperly due to advanced arthritis, causing the individual to appear to walk hunched over, much like, well, our stereotypical view of a caveman. Just goes to show what bad PR can cause.

Neanderthal skeletons can be positively identified. Their facial structure is different than that of modern man, with an identifiable brow ridge and bones that push forward in the nose and mouth region, as compared to our flatter faces today.

Neanderthals lived a short life, most were dead by age 30. They were large and strong. They participated in up-close and personal hunting, using spears, which meant they had to come in close contact with their prey.

Neanderthals began living in Europe about 300,000 years ago, having exited from Africa. They evolved to fit the European, colder, climate. It had been thought up until recently that they lacked the brainpower of humans, had no spoken language, or the ability for such, no personal ornamentation, art or evidence of ritual or religion. These are the functions that make us uniquely human and separate us from the non-human world, and we fully believed that Neanderthals lacked these defining characteristics.

We have learned differently, much as a result of genetic discoveries that tell a different story of Neanderthals.

Homo sapiens left African about 40,000 years ago, and within 10,000 years, Neanderthals, who had spread throughout most of Europe and much of Asia were gone. The map below shows the locations where fossilized Neanderthal remains have been found.

The assumption has been made that Homo Sapiens were responsible for the Neanderthals demise, either by killing them off or providing too much competition for scarce resources, outnumbering them 10 to 1.

Svante Paabo, a Swedish geneticist now at the Max Planck Institute for Evolutionary Anthropology forever changed the genetic world, how we perceive Neanderthals, and paradoxically, how we think of ourselves.

Pääbo is known as one of the founders of paleogenetics, a discipline that uses the methods of genetics to study early humans and other ancient populations.

In August 2002, Paabo published findings about the “language gene”, FOXP2, which is lacking or damaged in some individuals with language disabilities. This research would prove critical, later, in the humanization of the Neanderthal.

In 2006, he announced a plan to reconstruct the entire genome of Neanderthals. In 2007, Pääbo was named one of TIME Magazine’s 100 most influential people of the year.

In February 2009, at the Annual Meeting of the American Association for the Advancement of Science (AAAS), it was announced that the Max Planck Institute for Evolutionary Anthropology had completed the first draft version of the Neanderthal genome. Over 3 billion base pairs were sequenced in collaboration with the 454 Life Sciences Corporation. This project, led by Pääbo, shed and will continue to shed new light on the recent evolutionary history of modern humans.

In March 2010, Pääbo and his coworkers published a report about the DNA analysis of a finger bone found in the Denisova Cave in Siberia; the results suggest that the bone belonged to an extinct member of the genus Homo that had not yet been recognized, the Denisova hominin.

In May 2010, Pääbo and his colleagues published a draft sequence of the Neanderthal genome in the journal Science. Below, a scientist at Max Plank extracting Neanderthal DNA.

Paabo shared in the program that many times during the Neanderthal sequencing project, he himself “despaired many times of being able to do it”, doubting that it could be done. It took a total of 4 years. The team found good candidates, 3 well-preserved female bone fragments from the Vindija Cave in Croatia.

Because of the age of the fragments, and because they had been in the ground for so long, much of the DNA recovered wasn’t Neanderthal, but that of bacterial organisms and fungus. The team developed a method to eliminate the bacteria, leaving only Neanderthal DNA. However, those genetic fragments still had to be reassembled, piece by piece, like a huge jigsaw puzzle with no picture on the box, into the Neanderthal genome.

Four long years later, the puzzle was finished. I hope the team had a very big celebratory party!

Ed Green, a scientist on Paabo’s team said that the first thing the scientists looked for was to determine whether or not Neanderthals had the FOXP2 gene for language, and if so, is it identical to the human version, or is it different. The answer was that it was identical to the language gene carried by Homo Sapiens, modern humans. This tells us not only that Neanderthals had the capabilities for language, but that this gene evolved in Africa, before Neanderthals left, 300,000 years ago.

The next question, of course, was whether or not modern humans carried any DNA that could be labeled as Neanderthal. In other words, the question of inter-species breeding arose. It was believed that this was impossible, because two different species cannot have fertile offspring. This was proven to be an inaccurate assumption relative to Neanderthal and Homo Sapiens.

Paabo’s team sequenced the DNA of 5 individuals from different parts of the world. They isolated parts of the Neanderthal DNA that were measurably different from that of modern humans. In other words, those sequences could be positively identified as Neanderthal. Compared against the DNA of the 5 contemporary individuals, only the person from Africa had none of the Neanderthal DNA.

Paabo didn’t believe the results, thought they might be an artifact of statistical error or the result of not enough data, so he had his team repeat the exercise with different people, again, and again, and again, and every time, the results came back the same. Neanderthals and humans inbred, and to the degree that there is Neanderthal DNA in every population on every continent outside of Africa today.

John Hawks, an anthropologist at the University of Wisconsin used jelly beans to illustrate Neanderthal DNA in worldwide populations today. It turns out that the Chinese have the least amount, with about 1% and the people of Tuscany have the most, with about 4%. So the mountainous areas of Europe and Italy were a hotbed of Neanderthal activity and human interbreeding.

This caused other experts to think again about the Neanderthals in what could be called a radical shift in perspective. All of a sudden, when we realized that they were part of us, they became more human to us. They could and probably did have speech, so they could and probably did other “human” things too.

Joao Zilhao, a paleolithic archaeologist at the University of Bristol, also a flintknapper, spent years reconstructing the process of making Neanderthal tools, what were once believed to be scraps of flint with sharp edges. He proved, among other things, that obtaining these “scraps” involved a complex process of very specific flintknapping strokes. This skill was far from the previously perceived unintelligent caveman, and furthermore, it likely required language instruction.

Another early technology, in use 250,000 years ago, involved a complex process to create a type of pitch to secure spearheads to spear shafts.

The Neanderthals began evolving before our very eyes.

Michael Walker, a professor of Zoology and Physical Anthropology at the University of Murcia, discovered indeed that Neanderthals likely did have ceremony and ritual, the hallmarks of religion, which involved the ability for complex thought and reasoning. Shells and bones, drilled or punched to be worn as ornaments have been identified, along with pigments believed to have been used as body paints.

We still do this today; look at the fans at any football game.

In addition, it appears that a burial may have been found in Spain, along with two panther paws. Michael mentioned them as a trophy, I thought more in terms of spiritual significance.

John Hawks discussed what the Neanderthal parts of our genome have done for humans. Many of the Neanderthal genes have no known purpose, but there is one significant exception. It’s somehow ironic that we may indeed have survived as a species in a foreign environment, colder Europe, thanks to inbreeding with the Neanderthals. Humans carry a very specific Neanderthal piece of DNA that is essential to the immune system’s ability to attack viruses and bacteria, the HLA or Human Leukocyte Antigen. Because individuals who carried HLA might well have survived when others didn’t, the HLA became naturally selected for, and therefore present in the descendant population, us, “saving lives to this day.’

As John said, we are just beginning to understand our debt to the Neanderthals. Not only that, we also are rethinking what extinction really meant. We have presumed that Neanderthals went extinct, or died out, because we could no longer find their remains in fossil evidence. Perhaps, as Mark Twain said “reports of my demise have been greatly exaggerated.”

Is the reason we could no longer find separate Neanderthals because they interbred and assimilated into the Homo Sapiens population who were probably the dominant species, outnumbering them ten to one? Was their extinction not a dying out at all, but an absorption? Perhaps that was simply the natural progression of things, or maybe they realized that their recipe for success, for long-term survival, was not to remain separate, but to become part of the larger population. In fact they do survive today in just that way, as a part of all of us outside of Africa.

Decoding Neanderthals is available to watch online at http://www.pbs.org/wgbh/nova/evolution/decoding-neanderthals.html

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2012 Top 10 Genetic Genealogy Happenings

Posted on December 28, 2012 by Roberta Estes

2012 has been a very busy year for genetic genealogists. There have been lots of discoveries and announcements that affect everyone, now and in the future. The watchwords for 2012 would be “churn” and “explosive growth.” Let’s take a look at the 10 most important events, why they are important and what they mean for the future of genetic genealogy.

These items are in what I think are relatively good order, ranked by their importance, although I had a very difficult time deciding between number 1 and 2.

1. The New Root – Haplogroup A00

At the Family Tree DNA conference in November, Michael Hammer, Bonnie Schrack and Thomas Krahn announced that they had made a monumental discovery in the age of modern man known as Y-line Adam. The discovery of Haplogroup A00 pushes the “birth” of mankind back from about 140,000 years ago to an amazing 338,000 years ago. Utterly amazing. The DNA came from an American family from South Carolina. This discovery highlights the importance of citizen science. Bonnie is a haplogroup administrator who recognized the potential importance of one of her participants’ DNA. Thomas Krahn of course is with Family Tree DNA and ran the WTY test, and Michael Hammer is at the University of Arizona. So you have the perfect blend here of participant, citizen scientist, commercial lab and academia. What was never thought possible a decade or so ago is not only working, it’s working well and changing the face of both science and humanity.

http://dna-explained.com/2012/11/16/the-new-root-haplogroup-a00/

http://www.haplogroup-a.com./

2. Geno 2.0

Geno 2.0 is the Nickname for the National Geographic Society’s Genographic Project version 2.0. That mouthful is why it has a nickname.

This amazing project has leveraged the results of the past 7 years of research from the original Genographic project into a new groundbreaking product. Geno 2.0, utilizing the GenoChip, a sequencing chip created specifically for Nat Geo, offers the most complete Y tree in the world today, expanding the SNP tree from just over 800 SNPs to over 12,000. They are in essence redrawing the Y chromosome tree as I write this. In addition, the person who purchases Geno 2.0 will receive a mitochondrial DNA haplogroup assignment. Over 3300 new mitochondrial mutations were discovered. A brand new anthropological “percentages of ethnicity” report is featured based on over 75,000 Ancestry Informative Markers, many only recently discovered by the Genographic project. Additionally, participants will receive their percentage of both Neanderthal and Denisovan ancestry based on 30,000 SNPs identified that signal interbreeding between the hominids. A new website will also facilitate social networking and uploading information to Family Tree DNA.

The wonderful news is that there is a massive amount of new information here that will change the landscape of genetic genealogy. The difficulty is that we are struggling a bit under the load of that massive amount of information that is just beginning to descend upon us. It’s a great problem to have!

http://dna-explained.com/2012/07/25/national-geographic-geno-2-0-announcement-the-human-story/

http://dna-explained.com/2012/07/26/geno-2-0-qa-with-bennett-greenspan/

http://dna-explained.com/2012/07/30/geno-2-0-answers-from-spencer-wells/

http://dna-explained.com/2012/07/31/geno-2-0-wty-mtdna-full-sequence-participants-and-more/

http://dna-explained.com/2012/10/14/what-to-order-geno-2-0-vs-family-tree-dna-products/

http://dna-explained.com/2012/10/16/geno-2-0-the-kit-arrives/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

3. Reconstructed Sapiens Reference Sequence (RSRS)

In July, Family Tree DNA implemented the RSRS that in effect reconstructs the genetic profile of Mitochondrial Eve and bases the comparison of our DNA today against the RSRS sequence as opposed to the Cambridge Reference Sequence (rCRS) created in 1981 that is or was the current standard. The RSRS is a result of the watershed paper published in April 2012 by Dr. Doron Behar and 8 other authors titled “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root.” A complementary research website, www.mtdnacommunity.org, accompanies the paper.

http://dna-explained.com/2012/07/14/what-happened-to-my-mitochondrial-dna/

http://dna-explained.com/2012/07/15/the-crs-and-the-rsrs/

http://dna-explained.com/2012/07/16/the-mtdna-community/

http://dna-explained.com/2012/12/02/little-a-big-a-mitochondrial-dna/

4. Full Genome and Exome Sequence Offered Commercially by Gene by Gene

It was announced at the November DNA conference that Gene by Gene, the parent company of Family Tree DNA, through their division titled DNA DTC is offering full genomic sequencing for the amazing price of $5495 for the full genome and $695 for the exome. This is a first in the consumer marketspace. Today, this doesn’t have a lot of application for genetic genealogy, but as the price continues to drop, and utilities are built to process the full genomic data, certainly a market and applications will emerge. This is an important step forward in the industry with a product that still cost 3 million dollars in 2007.

http://dna-explained.com/2012/11/30/gene-by-gene-announces-landmark-dna-dtc-full-genome-sequence/

5. Neanderthal and Denisovan DNA

It’s official – they did it. Yep, they interbred and well, they are not them anymore, they are us. Given that everyone in Asia and Europe carries a part of them, but not people from Africa, it would appear that two populations admixed rather thoroughly in Eurasia and/or the populations were small. The amount of Neanderthal and Denisovan DNA will continue at approximately the proportions seen today in Europe (2% Neanderthal) and Asia unless a significant amount of admixture from a population (Africa) that does not carry this admixture is introduced. So if you’re European, you carry both Neanderthal and Denisovan DNA. They are your ancestors. The good news is that you can find how much of each through the Geno 2.0 test. 23andMe results give you the percentage of Neanderthal, but not Denisovan.

http://dna-explained.com/2012/08/31/denisovan-dna-tells-a-story/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

6. Ancestral Genome Reconstruction Begins, Led by Falling Autosomal Prices and the Ability to Fish in Multiple Ponds

2012 has been the year of autosomal testing price reductions and a great deal of churn in this marketspace. Companies are playing leap-frog with one another. However, sometimes things are not all that they seem.

Initially, 23andMe opted for an initial payment plus monthly subscription model, which they abandoned for a one time payment price of $299 in early 2012. Family Tree DNA was slightly less, at $289.

Ancestry led the price war by giving away kits, then selling them for $99, then $129 plus a subscription as an entrance into this market. However, looking at the Ancestry consent form hints at possible reasons why they were selling below the cost of the tests. You are in essence giving them permission to sell your DNA and associated information. In addition, to gain full access to your results and matches, you must maintain some level of subscription to Ancestry.com, increasing the total effective price.

Next came Family Tree DNA’s sale where they dropped their autosomal price to $199, but they were shortly upstaged by 23andMe whose price has now dropped to $99 permanently, apparently, a result of a 50 million dollar investment in order to reach 1 million customers. They currently have about 180,000. 23andMe has always been in the medical/health business, so their clients have always understood what they were consenting to and for.

Not to be outdone, Family Tree DNA introduced the ability earlier in 2012 to upload your data files from 23andMe to FamilyTree DNA for $89, far less than a second test, which allows you to fish in a second pond where genealogists live for matches. The challenge at 23andMe is that most of their clients test for the health traits and either don’t answer inquiries or match requests, or know little about their genealogy if they do. At Family Tree DNA, matches don’t have to answer and allow a match, testers are automatically matched with all participants who take the Family Finder test (or upload their 23andMe results) and testers are provided with their matches’ e-mail address.

Of course, Geno 2.0 was also introduced in the midst of this, in July, for $199 with the additional lollipop of new SNPS, lots of them, that others simply don’t have access to yet.

The good news is that consumers have benefitted from this leapfrogging, I think. Let’s hope that the subsidized tests at Ancestry and 23andMe don’t serve long term to water down the demand to the point where unsubsidized companies (who don’t selling participants genetic results to others) have problems remaining viable.

Personally, I’ve tested at all of these companies. I’ll be evaluating the results shortly in detail on my blog at www.dna-explained.com.

The tools provided by most testing companies, plus GedMatch, and multiple ponds to fish in are allowing the serious genetic genealogist to “reconstruct” their genome, attributing segments to specific ancestors. Conversely, we will also be able to “reconstruct” specific ancestral family lines as well by identifying autosomal segments in multiple descendants. This new vision of autosomal genetic genealogy will allow much more accurate ancestral line matching, and ancestor identification in the not-so-distant future.

http://www.yourgeneticgenealogist.com/2012/01/family-tree-dna-now-accepting-23andme.html

http://www.yourgeneticgenealogist.com/2012/05/23andme-eliminates-subscription-model.html

http://www.yourgeneticgenealogist.com/2012/10/clarification-of-what-is-available-to.html

http://www.yourgeneticgenealogist.com/2012/12/23andme-receives-50-million-and-drops.html

http://www.thegeneticgenealogist.com/2012/12/26/23andme-and-labcorp-sued-for-patent-infringement/

7. Ethnicity Tests Mature – Minus 1

The good news is that the various ethnicity tests (known as BGA or biogeographical ancestry tests) that provide participants with their percentages of various world populations are improving. The bad news is that there is currently one bad apple in the card with very misleading percentages – and that is Ancestry.com.

23andMe introduced a new version of their ethnicity product in December, expanding from only 3 geographic categories to several. The Geno 2.0 test results are just beginning to be returned which include ethnicity predictions and references to several base populations.

Family Tree DNA finally has some competition in this arena where for years they have been the only serious player, although opinions differ widely about which of these three organizations results are the most accurate. All four are Illumina chip based, using hundreds of thousands of locations, as compared with the previous CODIS type tests which used between 15 and 300 markers and are now outdated. All companies use different reference populations which, of course, provide somewhat different results to participants. All companies, except Ancestry, have documented and shared their reference population information.

Outside of these companies, Doug McDonald offers a private analysis and Gedmatch offers a series of BGA comparisons written by third parties.

While this industry continues to grow and mature, I’m thinking about just averaging the autosomal ethnic results and calling it good:)

http://dna-explained.com/2012/07/21/ethnicity-finders/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://dna-explained.com/2012/12/07/new-worldview-at-23andme/

http://dna-explained.com/2012/09/09/doug-mcdonald-on-biogeograpical-analysis/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://www.yourgeneticgenealogist.com/2012_12_01_archive.html

8. Finding Your Roots PBS Series with Henry Louis Gates

PBS sponsored a wonderful series in the spring of 2012 hosted by Henry Louis “Skip” Gates, the chair of African American Studies at Harvard. This series followed a lesser known 2010 series. The 2012 inspirational series reached tens of thousands of people and increased awareness of genetic genealogy as well as sparked an interest in genealogy itself, especially for mixed race and African American people. I was disappointed that the series did not pursue the Native American results unexpectedly obtained for one participant. It seemed like a missed opportunity. Series like this bring DNA testing for genealogy into the mainstream, making it less “strange” and frightening and more desirable for the average person. These stories were both inspirational and heartwarming. I hope we can look forward to similar programs in the future.

http://en.wikipedia.org/wiki/Finding_Your_Roots

CeCe Moore covered this series in March and April on her blog.

http://www.yourgeneticgenealogist.com/2012/03/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_09.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_16.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_23.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_30.html

9. Ancestry, GeneTree and Sorenson

GeneTree, a for profit company and Sorenson, a non-profit company were both purchased by Ancestry.com. This was about the same time as Ancestry introduced their autosomal AncestryDNA product. Speculation was that the autosomal results at Sorenson might be the foundation for the new autosomal test comparisons, although there has been no subsequent evidence of this.

Ancestry initially gave away several thousand kits in order to build their data base, then sold thousands more for $99 before raising the price to what appears to be a normalized price of $129 plus an annual ancestry subscription.

While GeneTree was never a major player in the DNA testing marketspace, Sorenson Molecular Genealogical Foundation played an important role for many years as a nonprofit research institute. There was significant distress in the genetic genealogy community related to the DNA contributed to Sorenson for research being absorbed by Ancestry as a “for profit” company. Ancestry is maintaining the www.smgf.org website, but no additional results will be added. Sorenson has been entirely shuttered. Many of the Sorenson/GeneTree employees appear to have moved over to Ancestry.

The initial AncestryDNA autosomal product offering is poor, lacks tools and the ethnicity portion has significant issues. It’s strength is that many people who test are already Ancestry subscribers and have attached their trees. So you can’t see how you connect genetically to your matches (lack of tools), but you can see the trees, if they are attached and not marked as private, of those with whom you match. Ancestry provides “hints” relative to matching individuals or surnames.

Eventually, if Ancestry improves its products, provides tools and releases the raw data to consumers, this may be a good thing. It’s an important event in 2012 because of the massive size of Ancestry, but the product is mediocre at best. Ancestry seems unwilling to acknowledge issues unless their feet are held to the fire publicly as illustrated with a “lab error” erroneous match for an adoptee caught by the consuming public and ignored by Ancestry until CeCe Moore exposed them in her blog. Whether Ancestry ultimately helps or hurts the genetic genealogy industry is a story yet to be told. There is very little positive press in the genetic genealogy community surrounding the Ancestry product, but with their captive audience, they are clearly going to be a player.

http://www.yourgeneticgenealogist.com/2012/05/ancestrycom-buys-genetree-and-launches.html

http://dna-explained.com/2012/07/12/did-you-test-at-genetree/

http://dna-explained.com/2012/08/30/is-history-repeating-itself-at-ancestry/

http://dna-explained.com/2012/07/18/the-trouble-with-ancestry-com-matches/

http://dna-explained.com/2012/08/14/y-dna-family-tree-dna-vs-ancestry/

http://dna-explained.com/2012/08/16/ancestrys-consent-form-for-ancestrydna-autosomal-test/

http://dna-explained.com/2012/09/10/ancestry-autosomal-results-are-back/

http://dna-explained.com/2012/10/15/ancestrys-dna-survey/

http://dna-explained.com/2012/10/23/ancestry-to-release-array-data-in-2013/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://www.thegeneticgenealogist.com/2012/06/19/problems-with-ancestrydnas-genetic-ethnicity-prediction/

http://www.yourgeneticgenealogist.com/2012/08/ancestrydna-confusing-relationship.html

http://www.yourgeneticgenealogist.com/2012/08/follow-up-on-ancestrydna-and-adoptees.html

http://www.yourgeneticgenealogist.com/2012/09/23andme-says-no-match-for-adoptees.html

10. GedMatch

GedMatch, www.gedmatch.com, created by John Olson and Curtis Rogers, isn’t new in 2012, but it’s maturing into a tool that is becoming the defacto workhorse of the serious autosomal community. People who test at either 23andMe or Family Tree DNA download their raw results and other match information and then use a variety of tools at GedMatch to look at results in different ways and using different thresholds. GedMatch is currently working to accept the newly arriving Geno 2.0 data files. Ancestry does not at this time allow their customers access to their raw data files, so there is nothing to upload. The bad news is that not everyone downloads/uploads their information. Only the most savvy users, and the download/upload is not always a smooth process, often necessitating several attempts, a magic wand and some fairy dust for luck.

GedMatch is a volunteer effort funded by donations on the GedMatch site. The magnitude of this project came to light when they needed new servers this year because the amount of traffic disabled their internet service provider. It may be a volunteer effort, but it has mainstream requirements. Therefore, while occasionally frustrating, it’s easy to understand why it’s light on documentation and one has to poke around a bit to figure things out. I would actually prefer that they make it a subscription site, clean up the bugs, add the documentation and take it to the next level. It would also be very nice if they could arrange something with the major players in terms of a seamless data transfer for clients. All told, it’s an amazing contribution as a volunteer site. Hats off to Curtis and John for their ongoing contribution to genetic genealogists!!!

www.gedmatch.com

http://www.legalgenealogist.com/blog/2012/08/12/gedmatch-a-dna-geeks-dream-site/

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers