Gene by Gene Signs Agreement with MD Anderson Cancer Center

Posted on April 23, 2013 by Roberta Estes

It’s really nice to know that the labs owned by Gene by Gene, which includes the lab that processes the Family Tree DNA tests, are so highly regarded. The MD Anderson Cancer Center is THE cancer treatment center, very highly regarded, ranked as the #1 cancer treatment center in the US and one the first three comprehensive cancer treatment centers, focusing on academics, research and treatment. Congratulations to Gene by Gene. Gene by Gene and MD Anderson will make a great team! The press release is follows:

Gene By Gene Signs Agreement with MD Anderson Cancer Center

Will provide clinical phase instruction, training and supervision for students as part of agreement

HOUSTON — Apr. 23, 2013 – Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that it has signed an agreement with the University of Texas MD Anderson Cancer Center to become one of its affiliated clinical laboratories.

Under the agreement, scientists at Gene By Gene’s Genomic Research Center will provide the clinical phase instruction, training and supervision required for students in the Molecular Genetic Technology Program, one of eight undergraduate programs offered through MD Anderson’s School of Health Professions.

“We’re delighted to partner with Gene By Gene, with its long and pioneering history in the field of genomics,” said Program Director, Peter Hu, Ph.D., with the School of Health Professions. “Gene By Gene’s sequencing, next-generation sequencing and microarray laboratory will provide the top level of experience and training that we want all our molecular students to attain.”

Gene By Gene’s Genomic Research Center is a CLIA registered lab which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations globally. It is now one of only 36 laboratories in the United States, including the Yale University School of Medicine and the Baylor College of Medicine, to achieve this prestigious affiliation.

“We’re very proud to be able to share our laboratory and expertise with MD Anderson’s School of Health Professions,” said Gene By Gene President Bennett Greenspan. “It’s an honor to be among the select few companies and institutions that are invited to affiliate with this prestigious institution. In addition, this is a wonderful opportunity for Gene By Gene to continue investing in the next generation of leaders in genomic and genetic science, and we’re thrilled to welcome the first students to our Genomics Research Center this May.”

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.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

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.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Family Tree DNA

MyHeritage DNA only

MyHeritage DNA plus Health

MyHeritage FREE DNA file upload

AncestryDNA

23andMe Ancestry

23andMe Ancestry Plus Health

LivingDNA

Genealogy Services

MyHeritage FREE Tree Builder

MyHeritage Subscription with Free Trial

Genealogy Research

Legacy Tree Genealogists for genealogy research

The Genomics Revolution 13 Years Later – Bennett Greenspan

Posted on March 9, 2013 by Roberta Estes

On April 29, 2013, from 11 AM-12 noon, Bennett Greenspan will be the featured speaker in the CSE Distinguished Lecture Series in the Georgia Tech Auditorium located in the Technology Square Research Building, 85 Fifth Street, Atlanta, Georgia, 30332.

Bennett will be speaking about bridging the gap between traditional genealogy and genetics, and will be discussing the various kinds of testing and when each is important. He will also be talking about new technology, exome and full genome sequencing and how that will be important to individuals.

Always a man with his eye on the horizon, thankfully for genetic genealogists, Bennett says the genomic revolution has just begun.

Bennett is speaking at the Bremen Museum on Sunday, April 28^th at 2PM about using DNA to settle family disputes, connect to long-lost relatives and to garner an appreciation for where your ancestors came from and where they journeyed since our departure from Africa.

For those who have never heard Bennett speak, he is an exceptional speaker and makes genetic genealogy not only understandable, but very attractive to the novice. Being a genealogist before genetic genealogy, a field established by Family Tree DNA, he brings a very powerful personal story to the table. He has a way of speaking and simplifying the complex that resonates with people.

This is also a rare opportunity to hear someone personally who has directly caused a technology revolution. Bennett founded Family Tree DNA in 2000, actually, almost by accident, as a result of the process he went through trying to answer one of his own long-standing genealogy questions.

I hope you’ll have the opportunity to attend one or both of these presentations. Even though I’ve heard Bennett many times, if I were anyplace to close to Atlanta, you can bet I’d be in the audience. Hearing Bennett speak makes me fall in love with genetic genealogy all over again!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Personal Genetics – Coming out of the Closet – Ostriches, Eagles and Fear

Posted on March 6, 2013 by Roberta Estes

While most of the people subscribing to this blog are here because of genetic genealogy, genetic genealogy is only one piece of the picture of the future of personal genetics. Ironically, it’s genetic genealogy that gave low cost genetics a push into the mainstream, some 7 or 8 years before 23andMe, the first personal health genetics company, launched in 2006.

This week, the magazine, ieee Spectrum, of all places, has an absolutely wonderful article, The Gene Machine and Me, about the future of personal genetics. Many of these types of articles are sensationalized and full of what I call “fear-mongering,” but this one is not only excellently written, it’s accurate and interesting – a triple hitter home run as far as I’m concerned.

I’d like to talk for just a minute or two about the high points in this article, about this emerging technology, what it means to us and about fear. I’ll be sharing my personal journey down this path.

For those who would like to know how next-generation technology works – by the way – that’s the chip technology employed by Family Tree DNA for the Family Finder product, 23andMe for all of their testing and the National Geographic Geno 2.0 project – this article has a very educational description that is understandable by regular air-breathing humans. The next-next generation sequencing, discussed here and offered shortly by Ion Torrent, will certainly revolutionize personal genetics much as the Illlumina genotyping chip technology has today.

The benefit of full genomic and exome sequencing, the new technology on the horizon for consumers, is in the information it will tell us about ourselves. And I’m not referring to genealogy here, although that assuredly will be a big beneficiary of this new world of personal genetics. For genealogists, there is mention of soon-to-be capabilities of sequencing from one single molecule of DNA. For those of us with hair brushes and toothbrushes that we’ve been jealously guarding for years now, waiting for the technology to improve to the point where we can obtain the DNA of our dearly departed loved ones, this is going to be our ticket. As excited as I am about that, that’s not the potential I’m talking about. I’m talking about information about our own bodies and the potential future foretold in those genes. Notice the word potential.

The information in our genes is seldom a death sentence. In rare cases, it is, such as Huntington’s Disease. If this disease runs in your family, you already know it and testing should be done in conjunction with genetic and/or medical counseling. For these people, DNA testing will either confirm that they carry that gene, or relieve their mind that they do not.

For the vast majority of us, the information held in our genes it much less dire. In fact, it’s a good news message, as it will provide us ample warning, an opportunity, to do something differently with our lives to prevent what might otherwise occur. So it’s not a death sentence, more of a life sentence. For me, it was an epiphany. Yes, I took positive action and made dramatic life changes as a result of my DNA test results. In essence, this is my “coming out” story.

I was one of the first people to order the new 23andMe test when it was first offered, mostly for the genealogy aspect, but as you know, it includes health traits and information. When I received the results of that test a few years ago, in black and white, where I could not possibly ignore them, the reports indicated that I was at elevated risk for certain conditions. Those conditions were certainly beginning to manifest themselves in my life. I was on medication for two of them. My weight, at the time, was certainly a contributing factor to the development of those conditions. My sister had died near the age I am now as a result of those conditions. She looked like me, was built like me, was heavy like me, and very probably carried those exact same genetic risk factors. Our grandfather died of the same thing about the same age. Our father had it too, but he died in a car accident – caused by a coronary episode, at age 61. Seeing this, in black and white, and knowing my family history, I decided to do something to prevent that future, or at least to delay or mitigate it as much as possible.

I lost over 100 pounds and yes, for almost 5 years now, I’ve maintained that weight loss, well except for a pesky 10 or 15 pounds that I fight with regularly. But still, the 100 pound loss is far more important than the 10-15 pounds I battle with. I am off of all medication related to those and related conditions. I’ve changed what and how I eat, and a benefit I really didn’t anticipate is how much better I feel. You have no idea how much I hate these old pictures of me when I was heavy. This was taken at National Geographic Headquarters in Washington DC, in 2005, at our DNA Conference.

This next photo is me at one of our Lost Colony archaeology digs about five years later wearing one of my favorite t-shirts that says “Well Behaved Women Seldom Make History.” All of the genealogists should be laughing about now. No one wants well-behaved women because you can’t find them in the records. If my clothes look a bit large, that’s because they are, but that t-shirt was too small before the weight loss. I could never have done the physical work on those digs, or survived the heat, before losing the weight and going from a size 22 to a 12 in the photo below. These kinds of activities were all unforeseen benefits of the weight loss. My sister’s untimely death was not wasted on me, but served as a warning bell, well, more of an unrelenting siren actually, when I saw those DNA results.

I also took my 23andMe results, at least some of them, the ones related to the conditions I was dealing with, to my physician. I really had to think long and hard about this. So now, let’s talk about the fear part of the equation.

Fear of genetic results falls pretty much into two categories. We’ll call these the Ostriches and the Eagles.

My brother was an Ostrich. Yep, he was, head right in the sand. He had cancer, his wife had cancer, twice, his daughter, in her 30s, had cancer, yet their decision when offered free DNA testing was to decline – because they didn’t want to know. Fear of the information itself, fear of knowing, perhaps spurred because of a sense of fate – nothing we can do about it so why know about it. He also refused to discuss it, so I really can’t tell you why, and he died, of cancer, last year, so that opportunity is past. Personally, I think knowing about a genetic proclivity would equate to more vigilant monitoring. And knowing the proclivity didn’t exist would set one’s mind at ease. I would think you would be a winner either way, but my thinking and his were obviously quite different.

The other group are the Eagles. They are vigilant and acutely aware of the fact that health based discrimination does exist. It has been worse in the past than it is now. This is the reason I had to think long and hard about taking any of my results to my physician. Once in your medical record, it’s permanent.

Today, GINA, the Genetics Information Nondiscrimination Act, goes a long way to protecting people, especially in an employment situation, but it does not cover everything.

Anyone who has ever tried to obtain health care insurance individually or through a small business knows all too painfully about pre-existing condition exclusions. Well, the good news is that ObamaCare, love it or hate it, levels that playing field for the “rest of us,” those who either were denied or had to make life and employment decisions based on whether or not they had insurance coverage through a group where discrimination related to pre-existing conditions didn’t exist.

The other good news is that you don’t have to take any of your DNA test results to your doctor. It’s entirely up to you. You can test anonymously, using an alias, if you’re really paranoid. Your results through personal genetic testing are yours and for no one else to see unless you disclose them.

Lastly, let’s talk realistically about the types of insurance that still discriminate – which would be life insurance, extended care insurance, etc. They are in the business of odds-making. They are betting you will live and you are betting you will die sooner than later. As you age, the odds shift, cause let’s face it, eventually, you will die – and they will have to pay out. Now the only way they can make money is if you pay more premiums during your life than they have to pay out in the end, or they make the premiums so expensive you stop paying, letting the policy lapse, before you die, so they never have to pay. Of course, if they think the odds are stacked too far in your favor, they simply won’t insure you. So, if you or your family members have Huntington’s Disease, you’re not likely to be able to get life insurance outside of a group policy, with or without a genetic test. In fact, there is a questionnaire about your family history when you apply for individual life insurance.

I bought individual life insurance about 10 years ago. They sent a nurse to the house to draw my blood. They wanted chain of custody, to know the blood sample was mine, which is not the case with personal DNA testing. I had to provide ID. If the insurance company wanted to run a DNA test, prohibitively expensive then, but not in the next few years, they certainly could do so. Let’s just say it plain and simple – everyone has pre-existing genetic proclivities to something – no one is immune. These results are not generally black or white either, but expressed as a range. For example, 4.2 European women out of 100 will develop Restless Leg Syndrome in thier lifetime. My risk is 5.2, so slightly elevated above the average. I’m only “above average” in 5 areas, and below average in most. And the insurance companies are still going to be in the odds-making business – they can’t deny everyone or they won’t have any business – and they will use this new tool as soon as it becomes economically viable. There is no escaping it.

So yes, the Eagles are right to watch vigilantly – but for now – how much you share and with whom is entirely in your control, so you don’t need to be an Ostrich either. There is a great deal of good that can come from personal genetic testing, in addition to genetic genealogy. Knowledge is power.

So now, if you haven’t already, read this great article, The Gene Machine and Me!!!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools

Posted on March 3, 2013 by Roberta Estes

This is Part 5 of a series.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.” Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works. Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results. Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets. Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.

In this segment, Part 5, we’re going to look at various third party tools and what they can do for our search for minority admixture. We will use the download files from either 23andMe and Family Tree DNA and utilize third party tools to analyze the raw data. We’ll see how third party developers put those puzzle pieces together, if the results are consistent and what they tell us.

The Weeds

When dealing with testing companies, particularly any individual source (as opposed to multiple testing company results, as I have done), minority admixture, especially less than 1% may not be successfully recognized. One percent equates to between 6 and 7 generations or about to the 1800 threshold in time. However the history of both African and Native admixture in colonial America goes back another 200 years to the Jamestown era.

The social history in the US means that there are many people looking for this admixed heritage as long ago as 1609 when Jamestown was established and the first European/Native marriages took place (although there were “blonde Indians” reported by Jamestown settlers). In round numbers, that’s about 400 years or between 13 and 16 generations. Of course, a minority ancestor drops below the 1% threshold between 7 and 8 generations (with the first generation being the person tested) and by the time you get to the 12th generation, you’re at .048%. At this level, Bennett Greenspan says we’re “rooting around in the weeds,” and he’s right.

However, rooting around in the weeds for those dreaded IBS (Identical by State) segments in genealogy is exactly what we need when looking for small amounts of minority admixture. What’s an IBS segment you ask? It’s a segment that is typically too small to be counted as an IBD, or identical by descent, segment. IBS means that you’re from a common population if you match someone with a very small segment, not necessarily that you share a common ancestor within the past several generations. But how to you tell if a small segment is IBS or IBD?

There is no absolute line in the sand, but often segments smaller than 7cM (centimorgans) or 700 SNPS (some say 5cM and 500 SNPs) fall into the IBS category. This has caused some researchers to discard all segments of this size because they can’t tell the difference. That’s unfortunate, because clearly some of these segments are IBD and the IBS segments can be useful too.

When looking for minority admixture in two people, both of them having these small segments in the same location can provide meaningful information, and can confirm minority heritage. Said another way, if two people have less than 1% Native heritage, both share a common ancestor, and both carry part of their “less than 1%” on the same segment….one might say it’s not likely to be coincidence. Identifying the common segments of your common ancestor can lead to identifying the specific family line those segments came from, especially if you match others as well. This is in essence what Minority Admixture Mapping, or MAP, does. It uses these techniques to look for patterns in these small fragmented pieces that, when taken together, indicate minority heritage. Having said that, some IBS segments will indeed, be simply that, because you share the same base population, but some will be IBD, or more current in time. With the MAP technique, we’re sorting through ways to utilize these small segments, whether they are IBS or IBD.

Using the tools, MDLP, Eurogenes, Dodecad and HarrappaWorld at GedMatch allows us to “root around in the weeds,” to quote Bennett, and find those all-important small IBS/IBD segments that connect us to a particular ethnicity and ultimately, to other relatives who carry these same segments in the same locations.

In general, using these this type of DNA is called BGA, or Biogeographical Ancestry where we use SNPs of autosomal DNA called AIMs, Ancestry Informative Markers. A SNP is a Single Nucleotide Polymorphism, or a mutation that happened in one specific location on a gene. AIMs are generally SNPs, not clusters of markers, found at different frequencies in different populations. We combine all we know about them scientifically with information about population frequencies and then draw inferences about where our ancestors came from based on that information. So a SNP that is useful in determining ancestry is called an AIM.

These SNPs, or AIMs, are the foundation for these BGA tools that we will be using to sort through small segments of minority admixture. So this is a building block process. Scientists identify SNPs found in different populations at different frequencies and identify them as such, then scientists and genetic genealogists create BGA tools that use and combine SNPs/AIMs to suggest populations and ethnicities for those who carry them. Using these tools, majority ancestry is easy to discern. We’re going to use those tools to look at groups of SNPs/AIMs clustered in small, fragmented IBS or IBD segments to do Minority Admixture Mapping (MAP) to confirm our minority admixture and to identify our minority admixed lines, families and perhaps even (in time) our original minority ancestor.

I bet you thought I couldn’t fit all of those acronyms in one paragraph, but I did:) It is a bit like alphabet soup, but when you understand that this is a building process, it’s much easier to grasp as a whole.

Having at least one parents DNA makes this process much easier, because you can immediately tell if your other parent, by inferrence or process of elimination, has contributed any of the minority ancestry, or if it’s all on one side of the tree. Of course, that’s assuming your parents aren’t related to each other. There’s a test for that too at GedMatch. If you don’t have one parent available, you can “make do” with aunts, uncles and cousins, but it’s a much more tedious process.

Third Party Tools

To use any of these BGA tools, you’ll need to download your results from either 23andMe, Family Tree DNA or National Geographic. Currently at GedMatch, the only supported formats are 23andMe or Family Tree DNA, because the National Geographic test is so new. I used my Family Finder (Illumina Build 36) raw data file.

To download your results from 23andMe, sign on to your account, then click on this link and it will take you to the area to download your results.

https://www.23andme.com/you/explorer/

Save the file and do not open it as the act of opening it sometimes causes corruption and you will have a hard time uploading the file. If the upload fails, download a new copy and start over. If you have an older copy on your computer, it’s always a good idea to use a fresh copy to incorporate any changes made by the vendor since your last file download.

To download your results from Family Tree DNA, sign on to your personal page, click on the Family Finder tab and then on “Download Raw Data.” As I write this, Family Tree DNA is in the midst of a conversion from Build 36 to Build 37 for their autosomal files (in order to facilitate the integration of 23andMe results), so you may need to be a bit patient while this process completes. Files may not be available for download at some points. You certainly don’t want to mix comparisons, meaning using one build 36 and one build 37 file for comparison.

If you’re following this process yourself with your own data, please read all the way through this posting before starting your own processing.

Now, let’s look at the third party tools.

Stanford University

This tool is available at Stanford University. Scientists have collaborated to provide this service and I think it’s quite interesting. This tool is not compatible with any browser except Chrome and it requires a download of your autosomal data in a .txt file. If it can’t load your file, the loading task simply never completes. For me, that meant it wasn’t a .txt file I was trying to load.

http://esquilax.stanford.edu/

Load your file and choose Ancestry, then Paintings, then Hap Map 3 (experimental), then Paint my Chromosomes.

Their legend, above, translates to the regions, below.

ASW – African ancestry in Southwest USA

CHD – Chinese in Metropolitan Denver, Colorado

GIH – Gujarati Indians in Houston, Texas

LWK – Luhya in Webuye, Kenya

MEX – Mexican Ancestry in Los Angeles

TSI – Toscani in Italia

Unfortunately, this isn’t terribly useful. Hap Map 3 utilizes additional regions, including Utah, but this tool doesn’t seem to be mapping them, so my closest match region is Italy, which is midleading since none of my family was from Italy. Hap Map 2 is also an option which does include the Utah population, but it’s not as up to date otherwise as Hap Map 3.

David Pike has figured out how to tweak these settings some. You can read about it at this link: https://www.23andme.com/you/community/thread/8062/. David’s posting on June 20^th shows what he did. However, compared to the other tools available, I find this a poor choice and did not spend a lot of time trying to work with it.

However, a second feature that they provide is fun.

Stanford provides a Neanderthal tool that’s a little different than the Nat Geo or 23andMe ones. Click on Explore, Neanderthal, Look Up Exercise. Then enter your primary ethnicity and click on Look Up Exercise again.

Of a possible 84 Neanderthal alleles, I have 9, partially displayed below.

GedMatch

www.Gedmatch.com is a complimentary (voluntary contribution) site created by two genetic genealogists that includes several autosomal analysis tools. One of the areas of this site is “Admix Tools.” On that page one finds several private or proprietary tools, some written by genetic genealogists, some by researchers, and all free. Let’s take a look at each one and their results. If you want to see any of the results more closely than the photos here allow, you can run each of the comparisons using kit F6656 (mine) as the first kit and kit F9141 (my mother) as the second kit.

Each of these tools offers the same functionality, as follows.

We will be utilizing 4 of these functions for each tool.

Admixture Proportions
Admixture Proportions by Chromosome
Chromosome Painting
Paint Differences between 2 kits, 1 chromosome

We select from the tools as follows:

Let’s take a look at what the tools provide.

MDLP World 22

The MDLP software is sponsored by two genetic genealogists. You can read more about the project at http://magnusducatus.blogspot.com/ and http://magnusducatus.blogspot.com/2012/09/behind-curtains-mdlp-world-22-showcase.html.

MDLP shows several populations. I was interested to see if my mother also shared the African percentage. Interestingly, mother does have a South African segment, but it’s .12, so less than mine. Therefore, I would have obtained part of my African heritage from my father. She also has three different categories of Native American heritage, compared to my one. She carried a total of 1.92% and I carry .58%. Otherwise, our results are very similar.

The next feature is ethnicity mapping by chromosome. While the display is too large to see well it’s interesting to note that indeed, both Native American and African were detected on several chromosomes, not just on chromosomes 1 and 2 as reported by 23andMe and Dr. McDonald. Note that DeCode Genetics showed “East Asian” admixture on several chromosomes.

Here’s a portion of the above chart that you can actually see. The highlighted blue regions are your major ethnic regions.

Another feature is chromosome painting, shown below. This shows the first part of my chromosomes 1 and 2 painted by ethnic/regional breakdown. The legend for each tool is different and above their graph.

These tools also provide the ability to compare one chromosome between two people. On the graph below, my chromosome 1 is on the top, and my mother’s is second, with the third band being our common painting. The black represents non-shared regions, meaning those contributed to me by my father. Unfortunately, North American Native American is dark grey, sometimes difficult to distinguish from black.

The graph below shows that while I do share a large piece of Chromosome 1’s Native region (about 160-180mb) with my mother, there are also segments, 169-170 for example, where I have Native genes that she does not, indicating Native heritage in this location from my father’s side.

Eurogenes K9

Eurogenes was created by another genetic genealogist. You can read more about it at http://bga101.blogspot.com.au/2012/04/eurogenes-admixture-utilities-at.html.

Eurogenes calls me primarily North European with .67 Native American and no African in the percentages above, but below, on the individual chromosomes, some African does show, although not on as many chromosomes as MDLP.

In the charts above and below, you can see that Eurogenes detected small amounts of African along with Native American.

Notice that at about 10mb on chromosome 1, on the graph below in the top band, that the North American Indian (yellow) and the South Asian (red) are imbedded with each other. These appear again together at the beginning of chromosome 2, shown as the second band. This hints at how and why it’s sometimes so difficult to determine and filter Native American from Asian. There is no line in the sand, there is a continuum between populations, the only differentiator being 10,000 to 15,000 years spent apart in which time, they, hopefully, developed enough differentiating mutations that we can tell them apart.

On the chart below, the top band shows the chromosome painting of my chromosome, and the second band shows the chromosome 1 Native American segment (about 160-180 mb) of my mother with the third band showing both matching and non-matching regions, painted black. Looking at the segment of chromosome 1, in the graph below, characerized as Native, we can see in mine, top row, that this is categorized as Native American (yellow), but some of the same regions below, in Moms are categorized as South Asian (red), causing a technical non-match, when in reality, It’s likely a categorization issue, not a genetic mismatch. In future analysis, we’ll be using two methods of comparison, one called “Strong Native” that only matches Native to Native and another, the “Blended Asian” method that allows for grouping of similar ancestral types that together likely indicate a Native heritage.

Dodecad V3

Dodecad was created by an anthropologist. You can read more about it at http://dodecad.blogspot.com/ and http://dodecad.blogspot.com/2011/06/design-of-dodecad-v3.html.

Dodecad, unfortunately, does not subdivide into Native American, so the Native will show here as some form of Asian. Northwest Africa shows in the percentages above, but more detailed African heritage shows in the chromosome detail below in regions not shown above.

Above, my chromosome painting for the first part of chromosomes 1 and 2.

Below, the comparison showing the Native segments from about 160-180mb. My Native segment (top) compared to mother’s (middle) with the comparison of the two on the bottom for chromosome 1.

HarappaWorld

HarappaWorld divides results into fewer population groups and is focused on Asia. You can read more about it at http://www.harappadna.org/2012/05/diy-harappaworld/.

In HarrappaWorld, Beringian and American appear to be equivalent to Native American. Like Dodecad and Eurogenes, African does not show in the total percentages, but does on the individual chromosome analysis, although in smaller percentages with this application.

Chromosome painting of my chromosomes 1 and 2 are shown below.

The graphs below show the Native region comparison of chromosome 1 between me, top row, mother, middle row, and the third graph showing the common areas, with black representing areas where there is no match.

For each of these tools and their results, we’ll do further analysis in a future segment of this series.

Tools Summary

Now that we’ve looked at these individual tools, and building on the Test Results Chart created in Parts 3 and 4, let’s compare and see what information these tools add.

Test Results Chart Including Third Party Tools

Test/Company	European	Asian	Native	African	Unknown
Pedigree Analysis	75%	0	~1%	0	24%

Testing Companies
Family Tree DNA – Original	100%[1]	0	0	0
deCodeme	92%	5%	Inferred[2]	3%
deCodeme – X	91%	6%	Inferred	3%
Dr. McDonald	97-99%	1-3%	0.5%	0
23andMe – Original	99%	1%	Inferred[3]	0	0
23andMe – 2012 – Standard	99.2%[4]	0	.5%	0	.3%
23andMe – 2012 – Conservative	98.7%[5]	0	.3%	0	1%
23andMe – 2012 – Speculative	99.3%[6]	0	.5%	0	.2%
Family Tree DNA – 2012	100%[7]
Geno 2.0	79%[8]	18%	0	0	0
Ancestry	92%[9]	0	0	0	8%

Third Party Tools
MDLP	86.68%	12.55%	.58%	.17%	0
Eurogenes	94.83%	4.5%	.67%	0	0
Dodecad	85.47%	13.43%	Inferred	1.09%	0
HarrappaWorld	86.56%	12.80%	.65%	0	0

Of the various chromosomes, the breakdown is as follows. Dodecad does not break the categories in a comparable fashion to these other 3 tools, so their results are omitted in the following chart. Please note that how geographies are categorized can make a significant difference.

Minority by Chromosome Chart

Tool/Chr	MDLP Native	Eurogenes Native	Harrappa Native	MDLP African	Eurogenes African	Harrappa African
1	Y	Y	Y	N	N	N
2	Y	Y	Y	Y	Y	N
3	N	N	N	Y	Y	N
4	Y	N	Y	N	N	N
5	N	N	N	N	N	N
6	Y	Y	Y	Y	N	N
7	N	N	Y	N	N	N
8	Y	Y	Y	Y	N	Y
9	Y	N	N	Y	N	N
10	Y	N	N	Y	N	N
11	Y	N	Y	Y	N	N
12	Y	N	Y	N	N	N
13	Y	N	Y	N	N	N
14	Y	Y	Y	Y	N	N
15	Y	N	N	N	N	Y
16	Y	Y	Y	Y	N	N
17	Y	Y	Y	N	N	N
18	N	N	N	N	N	N
19	Y	Y	Y	Y	N	N
20	Y	Y	Y	Y	N	N
21	Y	N	Y	N	N	N
22	N	N	N	Y	Y	N

From these various tools, it’s obvious that I do have some Native admixture, probably about 1%, and it’s from both parents. I also have some African, but it looks to be an even smaller proportion that Native American.

Join me for Part 6 of this series, where we look at how to analyze and use this information.

[1] 71.5% western European, 28.4% Northeastern European

[2] Inferred that Asian is actually Native in an American with no history of Asian ancestry.

[3] No category, inferred.

[4] 78.6% Northern European, 1.8% Southern European, 18.7% Nonspecific European

[5] 54.6% Northern European, .3% Southern European, 43% Nonspecific European

[6] 91.7% Northern European, 3% Southern European, 3.3% Nonspecific European

[7] 75.18% West Europe (French and Orcadian), 24.82 Europe (Romanian, Russian, Tuscan and Finnish). Note that my mother’s results are almost identical except the Finnish is missing from hers.

[8] 43% North Europe and 36% Mediterranean

[9] 80% British, 12% Scandinavian

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

The Autosomal Me – Testing Company Results

Posted on February 24, 2013 by Roberta Estes

This is Part 4 of a multi-part series, The Autosomal Me.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.” Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works. Part 2 gave an example of the power of fragmented chromosomal mapping and the raw beauty of the results. Part 3, “The Autosomal Me – Who Am I?,” discussed how to use our pedigree charts to gauge expected results and how autosomal results are grouped into population buckets. We also named this technique, Minority Admixture Mapping, or MAP for short.

In this segment, Part 4, let’s take a look at what the testing company autosomal results look like. The results are presented in timeline order, with the oldest results first and the latest, and presumably most accurate results, last.

23andMe Version 1

23andMe was the first company to offer this type of testing affordably. They initially only offered 3 population groups, and one inferred that Asian was actually Native American. Of course, that wasn’t a valid assumption for everyone, but it was the best that could be done under the circumstances. This was my ethnicity results display at 23andMe until December 2012 went their updated version was released.

DeCode Genetics

DeCode Genetics initially offered autosomal tests for ancestry. Unfortunately, under the pressure of financial issues, they stepped away from the genetic genealogy marketspace and have since been sold.

Their test showed the following ethnic breakdown, picking up both my Native and African heritage:

I particularly like these results because the X chromosome is included, and seeing Native on the X chromosome, which has a unique inheritance path is a very important piece of data.

Family Tree DNA Version 1

Family Tree DNA’s first version of their Family Finder product produced results stating that I am 100% European, split between western and northern, shown below (minus the map.)

Dr. Doug McDonald

Doug McDonald, a retired physical chemistry professor, compiles contributed raw data and compares the raw data locations with both reference populations and the contributor results. This is not a commercial endeavor but a private research project which has been ongoing for years. His analysis of my raw data results from 23andMe and Family Tree DNA showed that they are primarily European. His first analysis was without Middle Eastern populations and the results showed European except for a total of about 3% East Asian, Oceana and American. However, in a second run including the Pakistan and Middle Eastern populations, the results now showed 88% European, about 1% Oceanic and American and the balance Middle Eastern and Pakistani.

A small amount of Middle Eastern heritage is not unexpected since I do have confirmed Turkish ancestors.

Dr. McDonald indicated that this was slightly more, 1-2%, than most Europeans, and that I was generally planted firmly in the middle of the “English” area in his data. His results showed no African.

Standard deviation (statistical noise) is about 1%. He can achieve these low deviation numbers by using such a large number of markers (536,904 to be exact)[1] for his comparison. I am grateful to Dr. McDonald for his contribution, not only to me, but to this field.

The graph below shows that my primary ancestry falls in the English/French region.

The second graph maps these results on my chromosomes. The American, bright green, is found on chromosomes 1 and 2, and the X chromosome shows South Asian.

Doug indicates that the Native American is found at about the .5% level. Interestingly, on my mother’s graphs and charts (below), the Native segments are nearly identical, but my first grey South Asian segment on my X is Mideast on her chart.

It’s also interesting to note that my Native American on chromosome 2 is larger than my mother’s which may well reflect Native heritage on my father’s side. Ironically, the oral history of Native ancestry was on my father’s side, not my mothers.

Doug’s analysis has been updated several times over the years and these results are the most current. The vendors have made upgrades too. In 2012, both 23andMe and Family Tree DNA underwent upgrades to their ethnicity software and the Genographic Project version 2.0 test was released.

23andMe 2012 Updated Version

The new 23andMe software offers different confidence levels.

The standard estimate, or confidence level, shows that I have about .5% Native American. This is consistent with Dr. McDonald’s findings.

A second view is available which paints the chromosomes. A split view is also available if one of your parents has been tested at 23andMe as well. That is not an option for me.

The conservative estimate, below, shows less Native at .2%.

The speculative level below shows the Native back to .5% but adjusts the European regions significantly.

Although 23andMe does not provide participants with the start and stop locations, through alternative means, meaning a very smart friend, Rebekah Canada, who is a Java programmer, start and stop locations can be discerned.

CeCe Moore documented Rebekah’s technique for those who will be following along with their own results through this process.

In a future segment of this series, we’ll look at alternative ways to discern Native segments. Thanks to Rebekah’s technique, I can tell you that 23andMe shows my Native segments as follows:

Chromosome 1 – 165,658,091 to 175,711,116

Chromosome 2 – 86,316,174 to103,145,426

23andMe also provides a Neanderthal percentage. What fun!!!

Family Tree DNA Updated 2012 Version

My mother was deceased before chip based autosomal testing was available, but I ordered the Family Finder test for her as soon as it was available. Thankfully her DNA was stored at Family Tree DNA and was still viable.

Mother’s original results are shown above and her most recent results are shown below. Her results shifted within Europe and her margin of error doubled.

My current results from Family Tree DNA’s updated software are shown below.

National Geographic Genographic 2.0

I was very surprised to see my National Geographic results. They were very unexpected, in particular the high percentages of Mediterranean and Southwest Asian, totaling 54%.

It made more sense when I read the information. It’s true, reading is fundamental.

These results are, in essence, more anthropological in nature.

Of course, one of the fun parts of the Genographic results are the Neanderthal and Denisovan percentages.

These are somewhat different than the 23andMe results, although if you add the Neanderthal and Denisovan values together, the resultant 2.2% is very close to 23andMe’s 2.5%.

Ancestry.com

In 2012, Ancestry introduced an autosomal DNA test as well. What it provides is very limited, with limited tools, but it does provide percentages of ethnicity in addition to matches. Recently, Ancestry announced that the percentages may change over time. They have been severely beaten within the genetic genealogy community for quality issues with this product, including percentages of ethnicity that are highly erroneous. Their stated time reference is 500 years ago.

Recently this new page was added before you can see your detailed results.

Ancestry shows my heritage as only British and Scandinavian.

Ironically, Ancestry has mapped the birth locations of my ancestors in Europe on the map above, based on my family tree submitted. Interesting that Germany doesn’t show in Ancestry’s ethnicity list but many of my family lines originated in Germany and Holland, and none in Scandinavia.

Testing Provider Summary

Where do we stand now?

A summary of the various test results is shown below compared to my pedigree analysis.

Test Results Chart

I have included Dr. McDonald’s analysis here, not because he’s a testing provider in the sense of the testing companies, but because his offering was available in this timeframe, and because he worked with Family Tree DNA to develop their Population Finder code.

You can see that the results are relatively consistent between testing companies. There is certainly no question about majority ancestry, but the minority admixture which hovers someplace near 1%, give or take 5% in either direction, is much less consistent and not always reported. If I were to have tested with only one company and taken the results as gospel, I could certainly have been left believing that I had no Native or African admixture. For many people, it’s this small amount of minority admixture that they are seeking. So in answer to the question of which testing company is “best,” the answer is, if you’re looking for trace amounts of anything, the compendium of all the testing companies (minus Ancestry) would provide the best set of results. We will be using the match information as well in the next sections, so certainly nothing has been “wasted” testing with multiple companies, again, except Ancestry. I am hopeful that Ancestry will in the future release our raw data (which they have promised to do) in a useable format, fix their misleading ethnicity results and add chromosome painting tools so that we can fully utilize our data.

In Part 5 of the series, we’ll take a look at third party tools and how they can continue to refine and add to our knowledge of our admixture.

1. Genealogy-DNA Rootsweb posting by Doug McDonald on 7-26-09 and personal correspondence.

2. 71.5% western European, 28.4% Northeastern European

3. Inferred that Asian is actually Native in an American with no history of Asian ancestry.

4. No category, inferred.

5. 78.6% Northern European, 1.8% Southern European, 18.7% Nonspecific European

6. 54.6% Northern European, .3% Southern European, 43% Nonspecific European

7. 91.7% Northern European, 3% Southern European, 3.3% Nonspecific European

8. 75.18% West Europe (French and Orcadian), 24.82 Europe (Romanian, Russian, Tuscan and Finnish). Note that my mother’s results are almost identical except the Finnish is missing from hers.

9. 43% North Europe and 36% Mediterranean

10. 80% British, 12% Scandinavian

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

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:)

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

The Autosomal Me – Unraveling Minority Admixture

Posted on February 6, 2013 by Roberta Estes

You’re invited to come along with me on a journey. It’s an epic event, a journey into the deepest recesses of our cells, into the smallest pieces of our DNA, into the part previously thought to be useless because it’s so tiny. It’s the journey to find minority admixture. Minority in this case means small amounts of admixture. In my personal situation, this means both Native American and African.

People who have larger amounts of admixture don’t necessarily have to do this, although it can still provide useful information. If your autosomal percentages are uniformly recognized and reported by most or all of the testing companies, meaning over 1%, you probably know which of your relatives contributed your minority heritage and you don’t need to look for that proverbial needle in a haystack. Not everyone is that fortunate. I’m not. I know of Native heritage through my mother’s Acadian ancestors, but the ones in my father’s side have consistently eluded identification. It’s there, but where? It’s haystack time for me!

This past year or two, genetic genealogy has been hallmarked by advances in autosomal DNA and the supporting technologies using tools like 23andMe and Family Tree DNA’s Family Finder tests. In order to figure out how people are related to you, what level of cousins they are, and which genealogical line they come from, we’ve been using independent tools like phasing, where you compare your DNA to that of your parents or other close known relatives to see who gave you which pieces, or segments, of DNA. Then, when someone matches you on that segment, you can tell which side of yoru family it came from, and sometimes which genealogical line it came from. This sets the stage for one day being able to have this conversation with someone:

“Hi John, I see that we are 117^th cousins and we have a match at location 17,387,426 on chromosome 3.” Beth

“Hi Beth, why yes, we are indeed cousins, but we’re actually 115^th cousins, 11 times removed instead of 117^th cousins. Our match is through Attilla the Hun’s 37^th concubine.” John

Ok, so maybe I’m dreaming a bit…but this conversation is not just a possibility, it’s a certainty 10 years from now, but perhaps with less dramatic cousinships:)

To date, the rule of thumb for finding ancestors has been that small matches should be disregarded because they are probably identical by state (IBS), not identical by descent (IBD), meaning not useful genealogically.

What’s IBS you ask? It’s a segment that is typically too small to be counted as an IBD, or identical by descent, segment. This means that you and the person you match on this small segment descend from a common population, not necessarily that you share a common ancestor within the past several generations. Genealgoically relevant segments are recognizable because they are larger. To understand why and how this works, refer to my article, “Autosomal Results, the Basics.”

There is no absolute line in the sand, but generally segments smaller than 7cM (centimorgans) or 700 SNPs (some say 5cM and 500 SNPs) fall into this category. Dr. Tim Janzen, the genealogical “father of phasing” discards all matches in his spreadsheets less than 3.5cM. That’s because he’s looking for positive genealogical matches and does not want the data to be cluttered up by possible IBS matches.

However, when you have small amounts of minority ancestry, it stands to reason that these small tidbits could be very useful in identifying which of your genealogical lines produced these small amounts of admixture. If you can identify which lines provided this minority admixture, then you’re well on the way to identifying which ancestor contributed the minority admixture.

When looking for minority admixture in two related people, finding these small segments in the same location should provide meaningful information and confirm minority heritage. Said another way, if you both have less than 1% Native heritage, both share a common ancestor, and both carry your less than 1% on the same segment….one might say it’s not likely to be coincidence, especially if there is a pattern across multiple chromosomes/segments. Identifying the common segments of your common ancestor can lead to identifying the specific family line, especially if you match others as well. In essence, this is the genetic equivalent of “surround and conquer.”

Let me give a very short example here.

Let’s say I match my mother on part of chromosome 1 that is Native.

Then let’s say I match her first cousin (my first cousin once removed) on mother’s mother’s side on a smaller piece of that same segment. This immediately tells me that this particular bit of Native heritage is not from mother’s father’s side.

Another match to a more distant Hill cousin further defines the path of Native ancestry, showing that the Native heritage came through mother’s grandfather’s mother’s line. You can see how we track this ancestry and whittle down the possible sources.

So, I’ve set out to test this minority ancestry tracking theory. Because we are dealing with such small segments of DNA, “rooting around in the weeds,” as Bennett Greenspan so aptly put it, and have no mechanized tools, this journey is long, tiresome and tedious. It’s also thrilling.

As with all experiments, I have wondered many times if I was wasting my time. I’ve completed steps and then redone them a different way when I realized there was a better or more revealing method. More than once. That comes with the territory.

I debated about how to share this new technique. In the past, I would have published this as an academic paper, but with the delays surrounding the publication of JoGG, and the fact that the last paper through JoGG took 18 months to get out the door, much of this information would be stale by then. I thought about publishing as an e-book as well, but I finally settled on my blog. I feel that I can reach more people in a much more timely fashion this way. I also really like the blog because I can write in a more relaxed fashion than I could in any other venue and it gives you the opportunity to interact as well.

I also don’t know what to call this new methodology. I have just been referring to it as the weeds method, but that’s not very scientific. I considered the APM technique – Ancestry Population Mapping. Sounds too nonspecific. The PTM – Personal Torture Method – nah – puts people off even if it is true. MAT – Minority Ancestry Tracking – that’s a possibility but isn’t very specific. Fragmented Chromosome Mapping, FCM, has possibilities. So, I’m open to suggestions. If at the end of this series, it’s still the weeds method….well, then weeds it is.

Over the next few weeks, I’ll be writing about this journey, my discoveries, and sharing techniques with step by step instructions so that you can use the same tools. Join me for the multi-part series, “The Autosomal Me.”

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Projects, Administrators and Expectations

Posted on February 2, 2013 by Roberta Estes

One of the reasons I wanted to start a blog was to be able to chat about genetic genealogy topics that interest people. I can tell what’s on your mind by the questions I receive. For some reason, I’ve received several questions and some complaints about projects and administrators recently, and I think a fireside chat might clarify things a lot.

A few questions arrived in my in-box this past week that I’d like to paraphrase and address. The first question is from a male and the second from a female.

Question 1 – I’m in a number of projects. One of the administrators contacted me and suggested I do some additional SNP testing. But my surname project administrator has never said anything about this. If I needed more testing, why wouldn’t my surname project administrator tell me about this? Is this legitimate?

Question 2 – I’m so upset. I tried to join the XYZ surname project and the administrator told me that I couldn’t. Why can’t they be more flexible and realize I’m related to that family? This project is listed by Family Tree DNA as one I should join, but the administrator won’t let me.

I see confusion, misunderstanding and frustration in both of these questions, for both the participants and the administrators. I’d like to talk a little bit about projects, why they are formed, administrators, participants and expectations.

Projects

There are four types of projects at Family Tree DNA.

1. Surname Projects – The earliest projects formed were surname projects. Those are based on surnames, like Estes, and typically focus on the paternal lines and the Y chromosome and only that specific surname. Herein lies the first point of confusion. Because these projects were formed to sort out male family lines of a particular surname, they are typically restricted to males who carry that surname, or sometimes males who match that surname through adoptions of some sort.

Question 2 relates to this problem. From her perspective, she “should be” allowed to join, because she is related. But from a scientific perspective, there is no benefit for a female to join a male focused project. However, from a public relations perspective, it won’t hurt to let her join. Because women’s surnames change every generations, she could theoretically join all the surname projects for all of her ancestors. None of it would benefit her for matching etc., but it won’t hurt anything either.

From an administrator’s perspective, having people in a project that can’t advance the goals of the project is simply clutter. Not only that, but we have to do something with them, categorize them somehow, or leave them ungrouped. It’s also confusing to people looking at a Y-line project to see other surnames and apparently unrelated or unconnected people. Conversely, I want people to be happy with genetic genealogy and since she is related and very interested, perhaps she can contribute something in the way of research.

If this sounds a bit like the angel and devil, one on each shoulder talking to each other…..well, that’s because it is and there is no one right answer.

There is an exception, of course, to what I just said. It seems there is always an exception to everything.

Family Finder

Recently with the Family Finder tests, more and more administrators are including people in their surname projects who are related to that family but who do not carry the surname because it’s the only way we have today of including Family Finder participants and grouping them. I have begun to do this myself as a project administrator.

The alternative to this is to begin lineage projects, such as the Johann Michael Miller Descendants project, just for descendants who have taken the Family Finder test. This is a way to know who they are, to group them so that you can work with their results. The challenge is that projects are not set up to function this way. They are set up to display Yline (males) and mitochondrial DNA results, only, or both for a kit, and in this case, the Yline and mitochondrial DNA results are both irrelevant and misleading if they are displayed as valid results. Administrators are trying to figure out the best way to deal with this.

The work-around I’ve implemented is a grouping within the surname project labeled Family Finder where those who are related but don’t carry the particular surname are grouped. I am actively recruiting descendants for these groupings as Family Finder holds great promise in finding those elusive unidentified wives, unnamed children…..but I digress.

Here’s what my Crumley project looks like. You can see that the grouping of Family Finder is entirely irrelevant to the rest of the project, but it’s the best we can do under the current project structure.

2. Haplogroup Projects – The second type of project formed was haplogroup projects. These are for both Y-line and mitochondrial. Some haplogroups have only one project, like mitochondrial haplogroup K, for example. Others, like mitochondrial haplogroup H or Y-line R have many subprojects. These projects are a function of who wants to study what – and who is willing to do the work.

Haplogroup projects, by and large, are research projects. This means that they are arranged quite differently than surname projects. Surname projects are generally arranged by family and within family, by line, when possible. Haplogroup projects aren’t concerned with surnames, but with deep ancestry and location, and they are arranged by haplogroup and sub-haplogroup.

A great deal of the progress in understanding haplogroups, their history, migration patterns and the discovery of subgroups has come from the haplogroup projects. They are very important, make no mistake. Family Tree DNA is the only place in the world where there are groups of people grouped by haplogroup in public projects. This is citizen science at it’s best.

The haplogroup Q project had made significant scientific contributions. You can see that participants are grouped by haplogroup, meaning by SNP. In some cases, administrators also group participants by the tests needed to further refine their haplogroups. When you refine your haplogroup with further testing, you also refine your personal story and contribute to science as well.

Haplogroup Q groups participants by their haplogroup, above, but when they need additional testing, they are grouped with others who need that test, below. Why do they need additional testing? That’s how we learn about haplogroups. Every additional SNP that you test positive or negative for tells us more about migrations, about where your ancestors lived and what they did. The power of this isn’t just in one test, but in many tests combined that write the story of our ancestors.

To illustrate the power of many versus one, the mapping function comes to mind. Each project administrator can enable or disable mapping. Mapping can be very useful to surname projects, but it’s crucial to haplogroup projects.

Here’s the map for all of haplogroup Q. Interesting, but all that this really tells us is that it’s pretty universal. It’s one of two Native American haplogroups, but sub-groups are found throughout Asia and Europe as well. Want to know if you’re Native? Then you’ll have to do SNP testing.

The map below shows the oldest known ancestors for those who carry SNP M25. Looking at this map tells you immediately that these people aren’t Native American. But if you live in the US and you’re looking for Native ancestry, and you don’t test to this level, you can be left with the erroneous impression that your haplogroup Q result IS Native when it isn’t.

Ah, the power of maps. Most project administrators enable maps.

The administrators of haplogroup projects are focused very differently than surname project administrators. This explains the confusion in question 1 about why the surname admin didn’t suggest SNP testing, but the haplogroup project admin did.

Administrators Are Different People

Ok, stop laughting!

This introduces a bit of a different topic and that is what motivates haplogroup administrators. I mean, let’s face it, why WOULD you volunteer for this? The answer is simple – passion combined with a smidgen of insanity!

Surname administrators are most often the family genealogist. We all know them. We probably are them. It’s what attracted us to genetic genealogy in the first place. They may or may not be terribly familiar with the science of genetics, with SNPs, and may or may not be aware of the benefits of SNP testing. They can, however, recite the details of the original immigrant who arrived in Virginia in 1683 and all their children!

Haplogroup project administrators tend to be scientists. I’m very fortunate that my co-admin on the haplogroup E1b1a project is a population geneticist. Yes, they are interested in their surname family, but they are also very focused on their ancient ancestry too – in making that connection between the two and unraveling their story. To them, haplogroup projects represent opportunities not otherwise available.

This brings us to the third and fourth kinds of projects, lineage and geographic projects, whose administrators are passionate about their project’s subject.

3. Lineage Projects – Not many of these exist today and most that do are maternal (mitochondrial) DNA lineage projects, such as the descendants of Jane Doe, but I expect as we sort through how to best address lineage with Family Finder tests, lineage projects will become more widely utilized.

4. Geographic projects, the fourth type of project, are all projects other than above. These include many special interest projects, such as the Hatteras Island project, the Cumberland Gap project, the Mothers of Acadia project, the Lumbee project, the Lost Colony project, and many more.

These projects are as different as the people who founded them. Some projects are research projects and some are what I term courtesy projects.

My Cumberland Gap Project is a courtesy project. This means I formed it to allow people from a particular region to interact and to share. There is an associated Yahoo group that is very active. I do not have to approve membership. It’s open for all

The Lost Colony projects (and there are three, Y-line, mitochondrial and Family) are research projects. This means that the membership is restricted to people with specific qualifications. I don’t do this to be mean, it’s critical to the research goals of the project. Let me illustrate. The goal of the Lost Colony Y-line project is to test people with a specific set of surnames (the Lost Colonists surnames) who are found in very early eastern North Carolina counties. The project description says this and so does the FAQ. However, 99% of the requests to join the projects say something like this: “I want to compare my results with that of the Lost Colonists.” Well, guess what folks…..we’re trying to figure out what the Lost Colonists’ DNA looks like too.

Right now, the people in the Lost Colony Y-line project are good candidates to be descended from the colonists. We’re working to find the colonist families in England to confirm. However, if I let everyone who wants to compare their DNA to these people into the project, how would we ever know who is a true colonist candidate and who is just a comparer???

People get really upset when I explain this to them. And I have to say this…I can’t resist….had they read the project background and goals in the first place….they could have saved themselves and me both some time because they would have known that they don’t qualify, and why. They can support the project in other ways if they are interested.

As a project administrator, my largest frustration by far is with people who don’t read what is available for them.

I finally set up the Lost Colony Family project as a courtesy project for everyone who wants to test and compare their results to each other. Now there is a place for the frustrated people who can’t join the Lost Colony Y-line or mitochondrial projects.

Some geographic (and surname) projects require pedigree charts and a specific genealogy to join. For example, both the Lumbee and Cherokee projects have this requirement. Of course, for a Y-line or mtDNA project, your connection must be through either the paternal line or the maternal line. We receive requests to join daily from people who are connected, but not by Y-line or mtDNA, and they are terribly frustrated and sometimes quite angry when they are told they aren’t qualified to join. It’s not a judgment, it’s the way DNA works.

Project administrators are the gatekeepers to be sure the project retains focus and stays on track, which is only fair to the people hoping to learn and gain information by being project members. Project administrators are not there to simply be difficult to random applicants. Most of us really dislike having to decline a join request, even if we do explain. We know that some people simply won’t understand and will be upset or angry with us personally. Not fun.

This begs the question of why people are trying to join projects that aren’t good fits for them anyway???

Picking the Right Project

The good news and the bad news is that Family Tree DNA tries to help people find relevant projects. Unfortunately, it’s easy to misinterpret this if you don’t understand the source of this information. Below is an example. I’ve entered my surname, Estes, and these are the “associated projects” that are shown. Many people interpret these to be “recommended” by Family Tree DNA, and they join each and every one of them. That’s not the goal, nor are all projects appropriate for everyone.

Since I’m a female, none of the Y projects are relevant to me, and neither is the Estes surname project, generally. However, a new person wouldn’t have the experience to know this, so administrators need to help educate people. I wrote about this in the article, “What Project Do I Join?”

These projects are on this list because their administrator included the surname in their project profile, meaning they are interested in attracting people, or at least some people, with that surname. However, they may not be interested in attracting all people with that surname. If your surname is Estes and your family never set foot in America, then obviously the Cumberland Gap group, focused on the convergence of states Kentucky, Tennessee and Virginia, is not likely to be of interest to you. Since it is a courtesy project, you can join if you want, but if it was a project like the Lost Colony projects, then you would need to provide some evidence that your family fits the criteria for those the project is seeking.

Ok, so now we’ve talked about the four kinds of projects and how to select the right one for you. Let’s talk a little bit about what you can expect from an administrator and what they expect from you.

Administrators

First of all, administrators are volunteers. They receive no compensation of any sort, no discounts, nothing, except they are eligible to attend the annual DNA Conference in Houston. Eligible to attend does not mean the conference is free. I don’t bring this up as a complaint, it’s just that there has been a persistent rumor that refuses to entirely die that administrators receive some percentage of sales or compensation of some sort for running projects. They don’t and never have.

Because they are volunteers, their administration and personal communication styles vary widely. Many don’t have any co-administrators so have no backup or assistance. Some are prompt at answering e-mails, some not. Genetic genealogy and projects are now more than 10 years old. People age, they die, they get distracted and some just haven’t kept up. This field moves very rapidly. If you see a project in trouble, consider offering to help. If that doesn’t work, notify Family Tree DNA.

There are published guidelines for administrators. Mostly these deal with privacy and what they can and can’t do. Most of this is intuitive, but maybe not to everyone so it is in writing.

A good project administrator:

Communicates with members, especially if contacted
Keeps the project groups current
Assists members equally and fairly
Is honest, but sensitive, especially in difficult situations like undocumented adoptions (NonParental Events)
Is courteous

Sounds kind of like the scouts doesn’t it?

Every project is different. As an administrator, every time I send group messages to large projects, my e-mail address gets blacklisted as a spammer. So I set up a Yahoo group for each of these projects, plus have provided my blog address. Every person receives this information when they join in an automated e-mail which explains explicitly how to join the Yahoo groups and subscribe to my blog. Still, last week, someone left one of these projects with the comment “no communication.” Sigh. Remember what I said about reading???

A few very poorly run projects do exist. In one case, the administrator does not use Family Tree DNA’s public website, nor a private one, and the only way you can obtain project information is by signing up with My Family. In another case, the administrator keeps the results private, much like above, but wrote a book about the surname a couple years ago. That seems to call into question the motivation for the project. These are sad and frustrating experiences for the participants.

Project admins cannot:

Charge a fee to join a project
Share or change private information (in fact, the Family Tree DNA website blocks that for admins)
Share the identity or personal information of participants without permission
Move members from one project to another
Use member information for any commercial purpose without authorization
Use member information and e-mails for spamming, etc.
Use a DNA project to advocate a personal or political agenda

Notify family tree DNA is you feel something is wrong or you have a concern. Consider offering to help if you notice a project languishing.

Project Members

We’ve talked about projects, why they are different and what you can expect from an administrator, but what do they expect from you as a participant, or potential participant?

1. Courtesy – I’ve met many lovely people through genetic genealogy, but I’ve also met my share of real dooseys. I see increasingly more “entitlement attitude” relative to projects with join criteria. In the words of one person who did not meet the criteria, “I deserve to be in this project. I have the right.” I strongly suspect that only the nice people who want to learn will have gotten this far in this article, so I won’t expound further:) For you folks, I don’t need to!

2. READ – Please, please read what is provided relative to the project goals and join criteria. Now this is a double edged sword, because it means the admin needs to be sure to provide this information and keep it current. Maybe I need to look at my project verbiage to see if it needs to be bolded, highlighted or in red!

3. Information – If information is requested, especially in a specific format, please comply as best you can. There is generally a reason for the request. Most admins don’t want to make extra work for you or themselves. Not all projects require information. I ask for a pedigree chart for everyone in my surname projects, and you would be amazed at how many people join the project and then never reply to any of my e-mails – probably about 50%. This is why some admins have gone to requiring a pedigree chart of some sort before people are allowed to join. And providing a pedigree chart does not mean sending a link to your tree at Ancestry. At Ancestry, all the admin can do is write everything down, by hand, IF they can find your line of the family in the chart. Remember, current and recent generations are “private” at Ancestry, so finding the right family line is almost impossible without additional information. I provide a mini-genealogy form for my project members that has them complete only the direct line directly back from them. Here’s the one for mitochondrial and the one for Y-line is the same except the word mother is changed to father.

Our Fireside Chat

I hope this has helped dispel some of the confusion surrounding projects, administrators, participants and expectations. This field started out to be quite simple, with only Y surname projects, but as the field has developed and evolved over the last decade, so have projects and with that has come some level of complexity. Joining the correct projects for you, your family and your DNA can be one of the most beneficial aspects of genetic genealogy, allowing you to find family and collaborate your research efforts with others.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

What is a Haplogroup?

Posted on January 24, 2013 by Roberta Estes

192

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.

______________________________________________________________
Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers
Genealogy Services
- MyHeritage FREE Tree Builder
- MyHeritage Subscription with Free Trial
Genealogy Research
- Legacy Tree Genealogists for genealogy research