Living the Life You Only Hoped For

Thanksgiving is hard for some folks.  Life didn’t turn out exactly as they hoped or planned.

It’s easy for me to sometimes get tied up in the melancholy.  Thanksgiving when I was younger was a festive time on the farm.  The kitchen was overflowing onto tables in the living room. Aunts, uncles, siblings, lots of kids, sometimes foster children, boyfriends, girlfriends…the house was full. Mom and I were cooking and everyone brought a dish to pass.  It never occurred to me that one day those times would only be a memory.

It’s not like that now.  All of those people are gone, including my siblings.  In fact there are only a handful of people alive now who experienced those days and most of them are scattered to the winds.

So, I have to actively think of things to be thankful for at Thanksgiving.  Obviously, I’m thankful for my family, my children, their spouses, grandchildren and grandpuppies who do live close by.  And I’m really thankful that my husband likes to cook – and so are my kids!!!

Then, last night, on Facebook, I saw this inspirational saying by http://www.ibelieve.com.

thankful

That is just spot on.  I have never thought about things quite like this before.

And of course, my thoughts immediately turned to genetic genealogy.

Twenty years ago, DNA testing didn’t exist nor did we have any clue that it might.

Fifteen years ago, Bennett Greenspan and Max Blankfeld were just starting Family Tree DNA.  They are today the only one of the early testing companies still in business and the only one to offer a full complement of DNA tests for genealogy.  Am I ever thankful for them and their success.

Ten years ago, we thought we had come a long way because we could test males Y chromosomes to 25 or 37 markers and the female line mitochondrial DNA.  I don’t recall whether we were doing full sequence testing yet a decade ago.

Five years ago, autosomal DNA testing had just been introduced and we were ecstatic.  Little did we know it would open the floodgates.

And today, the genetic genealogy world is one I couldn’t even have dreamed of.  I wonder what the next 5 years holds.

Indeed, times have changed dramatically, and for all we’ve lost through the natural processes of life, we’ve gained incredibly.  Not only have we gained new relatives and immediate family through birth and marriage and birth…but we’ve gained the tools to get to know our distant relatives.

By distant, I mean both in terms of miles and ancient.  The new relatives who live distantly we now get to know through social media like Facebook.  One of the ways we find those new relatives is through genealogy and sometimes, DNA testing.  I’ve become very close to some of the people I’ve met through genealogy.

But I also mean distant as in distant or ancient ancestors, my great-great-great-great-great grandfather Estes.  My most distant Estes ancestor was Nicholas Ewstas born in 1495 in Deal, Kent, England.  Today, through the magic of DNA testing, I know what his entire Y chromosome looked like, through his descendants.  I know that many of us today probably share small portions of his autosomal DNA.  I know how to identify his descendants by matching them to his Y chromosome results.  I know where in the world he came from, before Kent.  I know how his ancestors got from Africa to Europe and then to England, at least roughly.

Furthermore, the more people who test, the more direct Y and mtDNA relatives I can find to complete my DNA pedigree chart.  The more I can learn about these distant ancestors, by meeting more of my distant relatives in this lifetime.  The more people who test, the more ancestors available for all of us to find!!!

My biggest regret is that I didn’t know about DNA testing back in the day – that I can’t go back and swab those aunts and uncles.  I wouldn’t make that mistake today.  I now carry swab kits in my purse.  And yes, those of you who know me know I’m dead serious.  I would test all of them for autosomal DNA, Y and mtDNA if those lines had not already been tested and posted publicly for other descendants to find.

Indeed, I am extremely fortunate to find myself living in a time of miracles I didn’t even know enough to hope for.  I am very thankful.

thankful 2

Family Tree DNA Thanksgiving Week Sale Coupons

2015 ftdna week 2

Week 2 of Family Tree DNA’s sale is here.  Existing customers should receive an e-mail announcing their weekly coupon, or you can view your coupon by signing in to your account and looking for the Mystery Reward featured prominently at the top of your account.2015 Mystery Gift

Coupons can be used in addition to the sale prices, shown below, for products.

2015 ftdna sale prices

Please list your coupon discounts available, if you’re not going to use them, for others to use in the comments of each week’s blog article about the sale and sharing.  You can also request something specific.

Here are a few from accounts that I manage.  I used 4 coupons myself last week – so Happy Holidays to me and my ancestors I’m going to discover a little more about. If you’ve been wanting to test a family member or upgrade, now might be a good time.

Each coupon can only be used once (so first come, first serve on shared codes) and expires the following Monday when the next coupon is issued.

Coupon Type Discount Code
$5 off Y37, Y67 or Y111 R8SHOBHCDNS
$5 off Y37, Y67 or Y111 R8Q4VRCGLY9
$5 off Y37, Y67 or Y111 R8PC7HM9ZIL
$5 off Y37, Y67 or Y111 R809YU5BGO9
$5 off Y37, Y67 or Y111 R8QBAA1TU9B
$5 off Y37, Y67 or Y111 R8IBN3QJ570
$10 off Y37, Y67 or Y111 R8X8OV5LYVP
$10 off Y37, Y67 or Y111 R8XZ53JTF59
$10 off Y37, Y67 or Y111 R878FH559H4
$25 off Big Y R816GSLS0IC
$5 off mtDNA R86VDXCM6SF
$10 off mtDNA R83J02G4021
$10 off mtDNA R8MAFLM4MY4
$5 off Family Finder R8FKW1Y6UAV

Click here to order or upgrade tests and redeem coupons.

2015 Family Tree DNA 11th International Conference – The Best Yet

ftdna 2015

Family Tree DNA held their 11th International Conference of Genetic Genealogy from November 13-15, 2015 in Houston, Texas.

2015 ftdna pano

First and foremost, I want to thank Max Blankfeld and Bennett Greenspan, founders of Family Tree DNA, for hosting and subsidizing this conference.  It’s the only conference of its type anyplace in the world and Family Tree DNA has been hosting this conference now for 11 years.

Now to the fun part – the conference itself.

The first year I attended, which was the first conference in 2004, I remember thinking and probably saying as well that I felt like I was drinking from a firehose.  It reminded me of grad school.

This was both the good news and the bad news. The good news was that I loved every minute.  The bad news is that I didn’t understand everything that was being said.  And there was one session in particular where I was sure I had wandered into the wrong conference room…but when I saw Max and Bennett, I was sure I was in the right room….but not at all sure I was in the right place.

However, we were all newbies together because the field of genetic genealogy didn’t exist until about the year 2000….so these were truly first baby steps – although they certainly didn’t seem like it at the time.

Fast forward to this year.  Thanks to technology and the leaders in this field, the edge of the envelope is still being pushed, and there are still very exciting topics on the agenda for those of us who know a bit more now.  Those topics didn’t even exist in 2004.

Looking at the 2015 agenda, there were 7 main sessions, plus the breakouts and lab updates and such.  Of those 7 main sessions, none of them, not one, could have been presented at the conference just 5 years ago.  Why?  Because the products and the tools didn’t exist then.  We have advanced a HUGE distance in just 5 years and much of this has been due to citizen scientists.

But not every conference session was at an advanced level.  Thanks to Max and Bennett, there were also breakout sessions for newbies who I’m sure, feel like they are drowning in that fire hose.

There were 206 attendees at this year’s conference, and of those, I think there were 70 first-timers.  I surely hope they come back, because it does get easier as you learn more about the topics at hand.

The conference always begins with a reception hosted by Family Tree DNA on Friday evening, the ISOGG party (where we all contribute food and beverages) on Saturday evening and whoever is left on Sunday evening tends to gather and eat the nonperishable leftovers from Saturday’s gathering.

Indeed, we have fun and visit from the time we get up in the morning until we close our eyes each evening.  We take advantage of every minute.

Dressing the Part and Sharing the Love

You can tell you’re in a group of genetic genealogists.  Just look at their clothes – Katherine Borges and Linda Magellan’s clothes in particular.  They could start a helix clothing line!

2015 ftdna helix dresses

But it doesn’t end there.

2015 ftdna helix hose

Look at the carpet too.

Not only that, I’m sure Katherine’s nail tech is sticking pins in a voodoo doll of Katherine.

2015 ftdna helix nails

Katherine’s break-out session was titled, “Nulls, the Value of Nothing” and she had named her nails 389, 425, 464, etc. for the markers that sometimes have null values.

I want to infect you with some of the rejuvenation and excitement we feel, especially those of us returning year after year.  It’s how we charge our genetic batteries.

The conference, aside from providing us with an incredible learning opportunity, provides us with the opportunity to network and to visit with each other.  There is indeed a lot of shop-talk going on…but there is also a lot of just plain visiting and laughing and fun.  It’s kind of like a cross between a class reunion, a professional academic conference and a family reunion.  And really, it’s the only place you can go and have these kinds of discussions.  I mean truly, your family does not want to hear about this over the Thanksgiving table.  But your genetic genealogy friends do!

Jennifer Zinck did us all a huge favor and took exceptional notes during the conference in the sessions she attended.  Her posts are at these two links.

http://www.ancestorcentral.com/11th-international-conference-on-genetic-genealogy/

http://www.ancestorcentral.com/11th-international-conference-on-genetic-genealogy-sunday/

Due to the internet speed in the hotel, Jennifer was not able to upload any photos.  I’m not about to recreate all of Jenn’s hard work, so what I am going to do is share some photos and what I considered to be salient and high points of the conference.

Now for the bad news, my camera battery ran out at the end.  I thought I had an extra one with me, but I didn’t, so I don’t have photos of every main session, nor of the breakouts.

Update:  Please note that the speaker’s slides are available here.

Welcome

2015 ftdna max welcome

Max and Bennett always open the conference with some comments and a welcome.  Bennett shared a story I never knew about him.  When Bennett was 13 years old, he drew his first genealogy pedigree chart after talking to his grandparents and older family members.  While that is remarkable enough, he was bright enough to draw it – IN PENCIL.  I’m still not bright enough to do that apparently.

2015 ftdna bennett welcome

If you ever wonder if the cosmos has a sense of humor, consider that Bennett has paid to test 68 Greenspan men and none of those 68 men have been a match to his line.  However, 15 years into this adventure, a Mr. Green approaches Bennett at a conference and wonders if they are related.  Bennett is tired of paying for unproductive tests and really doesn’t think there is ANY chance of Mr. Green matching him.  So, Mr. Green pays for his test and you know what’s coming don’t you….yep….Mr. Green is Bennett’s closest match….and Mr. Green has a village name in the old country.  I’m betting Bennett is going to be going on a trip soon to that village….don’t you!  Maybe Mr. Green will go along.  I’m extremely glad Bennett is finally reaping the harvest of his infinite patience.

Peter Sjolund – Y DNA Maps Scandinavian Family Trees from Medieval Times and the Viking Age

2015 ftdna peter sjolund

The first presentation was Peter Sjolund from Sweden.

2015 ftdna sjolund scandinavia

The Scandinavians have become extremely excited about genetic genealogy and have been very active in projects and testing, including Big Y tests.

The first thing that happened was that I became exceedingly envious that the Hersesson family Peter was discussing in his presentation has 18 generations of documented family.

The great question to be answered was whether or not the farmer family was genetically related to the noble family.

2015 ftdna sjolund tree

The descendants were able to find enough direct male descendants to Y DNA test, and the answer was no, they weren’t.  However, they discovered that STR markers just didn’t reach far enough back in time to provide matching and delineation or the farmer line who did match each other, so they added the Big Y test and managed to prove the oral history from 1350 to present.

In essence, Peter was building the family tree with SNP and STR data instead of records and the two sources confirm each other.

You know those stories about “there were two brothers – one went east and one went west?”  Well, it’s true in this case, and using SNPs from the Big Y, Peter was able to prove it.

2015 ftdna sjolund snps

Peter’s next slide shows the historical events that spread these SNPs.

2015 ftdna sjolund map

It was so enlightening to see exactly how this worked to prove the families, but also to connect to ancient history.  Max summed it up well at the end when he said that “testing is not only a contribution to family history but also to confirming history itself.”

Razib Khan – Populations in Autosomal DNA

Razib, a doctoral candidate studying evolutionary genomics at UC Davis has been working with Family Tree DNA on updating their myOrigins product.

2015 ftdna khan

I loved Razib’s comment that all of this would have been considered science fiction 15 years ago.  He’s absolutely right.

Razib described our autosomal ethnicity as being a rich diaspora and that it has to be measured, matched and then reduced to 50 narrative threads.  He said it also gets a bit messy sometimes, because if we don’t fit into a thread exactly, or maybe our correct thread doesn’t have a deep enough reference population, we’re forced into the next best genetic thread – even though it may make no sense to us today.  That does explain some of the odd results we see from time to time.

2015 ftdna khan digest

In order to improve myOrigins, the next version, due out in mid-late first quarter of 2016 will include several new reference populations, including a second reference population for Native American people.

2015 ftdna khan populations

Not all of Razib’s presentation was about ethnicity – some was about recombination – which of course, when you think about it, affects ethnicity dramatically.

He mentioned, almost in passing that in each meiosis, a male has 25 recombinations and a female, 35.  This has the potential to affect the amount of autosomal DNA that we inherit through an all-female line of ancestors, for example, as compared to an all-male lineage.  This means, in essence, that we are likely, over time, to carry more of our male lineages, or lineages heavily male, than we are do all female lineages – because the DNA divides less.  I have to wonder if this is built into any of the calculations for relatedness by any of the vendors?

Razib mentioned that based on the results of ancient genome sequencing that the people of ancient Europe looked much different than the Europeans of today.

Razib also mentioned at least three instances where a combination of ancient DNA sequencing, population genetics and oral history have, together, proven the oral history to be accurate.  One of these instances is the Aboriginal oral stories of the tribes in Australia that recall an Australia with a very different shoreline than today’s continent.

2015 ftdna khan dreamtime

In the slide above, the light tan areas are now underwater, but the Aboriginal people still carry stories about these areas that have been “discovered” underwater.

2015 ftdna khan giants

Another “myth” is of giants in Biblical times.  Recently one of the remains excavated was nearly 7 feet tall – a person who would surely have been considered a giant among men of that time.

Razib also talked a bit about full genome sequencing and a few other speakers touched on it as well.  In essence there are four issues relative to full genome sequencing for the consumer marketplace.

  • The cost of sequencing itself.
  • The current lack of and cost of developing tools to compare full genomes.
  • The knowledge of how to utilize the comparative results in a genetic genealogy context.
  • The lack of any comparative database of other people.

Yes, I know that the other forms of DNA testing also started out with no data base, but those tests didn’t cost thousands of dollars either.  So, in a nutshell, the technology to reduce the cost of the test itself hasn’t reached the level at which the consumer marketspace would embrace that testing.  That’s probably when the work will be done on the tools, if at all.  We really don’t know that more, in this case, full genome sequencing, would be enough better to warrant additional testing and development.

Razib closed by wondering if we will be able one day to “recreate the face of our ancestor” by utilizing the combined DNA of their descendants.

2015 ftdna khan faces

I have to admit, this would be VERY cool.  It will be interesting to see what the next decade brings us in terms of technological advances.

I know one thing, if one had to do the “rebuild” by hand, the way I had to do the spreadsheet for James Crumley born in 1712, there won’t be very many faces recreated.  Hopefully, by then, we’ll have better tools.

Razib’s memorable comment:  “Treasure your exceptions.”

Dr. Michael Hammer – R1b and the Peopling of Europe: an Ancient DNA Update

2015 ftdna hammer

I could hardly wait for this presentation by Michael Hammer.

2015 ftdna hammer ancient

For the past two years, Michael has updated us on the cumulative finds of ancient DNA, and translated or speculated upon what that means or will mean.  Michael says that ancient DNA has changed the way we think of human origins and it will continue to do so in the future.  I think that’s one the most dramatic understatements I’ve ever heard.

He also mentioned that humans incur about 70 mutations throughout their genome in each generation.

Michael went on to remind us that just because we find a population, as defined by a SNP, in very high numbers in a location today, doesn’t mean that is the origin of the population.  The best example is that because R1b is found in about half of the European males today, it was long assumed that R1b was birthed in Europe – but it wasn’t.

2015 ftdna hammer reconstruct

Then Michael dropped the bomb on us – R1b is ANE and specifically is found among the Yamnaya.  We had discussed this possibility last year, because no R1b is found in the earliest hunter-gatherer ancient remains in Europe.  Subsequent research proved it.  R1b comes from the Russian Steppes as is proven in the Haaks paper published in June 2015.

Today, 10 ancient Yamnaya samples have been analyzed, and all 10 are R1b.  Hmmmm….

I wrote about the Yamnaya here.

One of the factors that has helped immensely with this problem is that in 2014, there had been about 30 ancient DNA samples sequenced and in 2014, there had been less than 80 sequenced.  Today that number is at 160 and unexpected revelations are occurring.

We’ve known there were two populations for a long time that settled in Europe, the original-hunter gatherers and the farmers, but we didn’t know about a third population until relatively recently.  Ironically, the day after the conference, word of a 4th population, from the Caucasus, broke.

2015 ftdna hammer europe

The last group anyone expected R1b to emerge from was the ANE.

2015 ftdna hammer ane

This map shows the influx of various cultures into Europe, and when.

2015 ftdna hammer migration

Which haplogroups arrived when?

2015 ftdna hammer haplogroups

Oh, you wanted SNPs?  Ok, here goes!

2015 ftdna hammer snps

One word of caution from Michael is that when reading papers, understand that they may not always be comparing apples and apples.  For example, the reason one SNP may not be present in a paper is not because it’s absent in the population or that particular sample, but because that lab for whatever reason, didn’t test for it.  So, no assuming nor drawing non-match inferences allowed.

I had discovered this recently when reading a mitochondrial paper.  They only tested for select locations and not others.  Makes me absolutely crazy.

BreakOut Sessions

Emily Aulicino talked about “Supercharging Your Project Members.”
Jim Brewster talked about “Getting Started with GAP.”
Dr. Doron Behar discussed “The Origin of Ashkenazi Levites.”

I attended Dr. Behar’s lecture.

2015 ftdna behar

Doron’s focus for many years has been on the Jewish population.

2015 ftdna behar levites

Recently, he has re-evaluated the available data and used new Big Y data in order to attempt to define the source of the Levite population.

2015 ftdna behar r1a1

I particularly like this slide, below, because it so succinctly illustrates the difference between traditional Sanger sequencing which is what is being done when you take the traditional 12, 25, 37, 67 and 111 markers tests, and the next generation sequencing like the Big Y.

2015 ftdna behar ngs

Sanger sequencing is illustrated on the bottom.  Reactions at specific locations are measured and then analyzed by humans and then recorded to reflect a specific value.

Next generation sequencing utilizes scanning.  In the top part of the slide, you can see several scans of each area.  The quadrant on the left, if I’m counting right, had 27 scans of the same area.  This is called coverage.  The scans then are recorded and they have to be aligned.  As you can see, the start and stop locations are not the same.  Then the results at a particular location are counted.  In this case, the dark squares show the same value in a particular location.  So not all of the scans show the same thing.  Of course, the value is compared to a reference chart for what is “normal” and then the variant values are recorded.  Assuming in this case that the variant values are colored dark blue, 18 recorded the same variant value but one is misaligned.

So, if you’re wondering why there is so much discussion about read coverage, alignment and valid results in Big Y tests…this is it in a nutshell.  Not to mention, as shown in the upper right quadrant, sometimes that location doesn’t read at all, so we have what are called “no-calls” to muck up the gears.  Family Tree DNA has to decide what is a “valid” result when they return results to customers.  Not everyone agrees with that threshold, so some people and groups do their own analysis.  What really is valid?  We don’t know for sure but the reason that the ISOGG tree requires Sanger sequencing before adding a new SNP location to a tree is to verify that the Big Y scans are accurate.

Doron designed a study utilizing both STR and SNP markers found in the Big Y to discover additional information about the source of the Levite population.

2015 ftdna behar study design

Based on several samples both within and outside of the known Jewish community, plus one family, the Horowitz, whose genealogy reaches far back into Jewish history, Doron was able to confirm that the Levite population did arise in the Near East.

2015 ftdna behar origins

I loved Doron’s comment, “The role of a scientist is to doubt.”

I would add that’s also the role of a genealogist and in particular, a genetic genealogist.

But Doron said something else EXTREMELY profound and I was extremely heartened to hear it.

“I was wrong.”

Yep, that’s what he said.  Let me tell you why I found this so inspiring and encouraging.

In the academic community, researchers are encouraged to research and publish their findings, along, of course, with their research data and the reasons why they reached their conclusion.

In the future, new information or technology may become available, and that original information may need to be adjusted, corrected, or it may be outright wrong.

There is NO SHAME in being wrong.  The only people who are never wrong are the people who do nothing.  Thomas Edison’s lab was filled with many “failures,” all of which were learning exercises that led to success.

In fact, the bigger shame is in not publishing and keeping your data and discoveries to yourself.  If you wait until you know “exactly,” that will never happen and you’ll never publish anything.  Even if the information turns out to be incorrect, it’s still a foundation for future research.

If another academic disagrees with a paper, they don’t publicly berate their colleague as “incompetent”, suggest they are suffering from “ascertainment bias,” state that the global “we” don’t approve of their research methods, nor do they say their research is a folly – at least not in a public forum.  If they have something to say, they are expected to do so with professional decorum and write a rebutting paper to share their own research and information as to why they disagree and how the data proves their point.

As has been proven, sometimes papers, especially early papers, are simply incorrect.

Often, as in Dr. Behar’s case, the original researcher, due to their high level of interest in the topic at hand makes additional discoveries that refutes or adjusts their earlier work.

Again, open research is encouraged.

I am hopeful that the genetic genealogy community can act within the same professional decorum standards.  Participating in character assassination of those engaging in research discourages open sharing, discourages research and assuredly discourages new people from participating.  No one wants to become a target.

In a professional setting, people disagree with ideas but remain friends.  Disagreements aren’t personal attacks.  There are no DNA police.

I am very encouraged not only by Dr. Behar’s work, but by his professional demeanor as well.  Doron said that we all hold important information relevant to these discoveries.  He’s right, and the way to free that information is to both test and continue to question,  research and publish.

Miguel Vilar – Genographic 2015: New Markers, New Geno Kit and Accessing the Data Base

2015 ftdna vilar

Dr. Miguel Vilar is the Science  Manager for National Geographic’s Genographic project as well as a molecular anthropologist.  He attended the Family Tree DNA conference in 2013 and we were very pleased to have him back this year to update us on the Genographic Project, now celebrating its 10th anniversary.  It has been an incredibly exciting decade.

Ten years ago, the Family Tree DNA Conference was at the National Geographic headquarters in Washington DC to celebrate the FTDNA/Nat Geo collaboration.

2015 ftdna 2005 nat geo

The Genographic Project has been very successful with over 670,000 public participants.

2015 ftdna vilar 10 years

In the beginning, the Genographic test was either a basic mtDNA test for females, or a 12 markers Y test for males.  The Geno 2.0 test changed dramatically, and the new Geno 2.0 Next Generation test offers even more.

However, the Geno 2.0 Next Generation test isn’t either the 2.0 test nor next generation sequencing.  So don’t get confused by the name.

2015 ftdna vilar compare

For someone who has already taken all of these tests, there is no incentive to test again, but for a new person who wants a base mtDNA haplogroup, a Y haplogroup, ethnicity, autosomal results and to transfer into Family Tree DNA for autosomal matching – the $149 price tag is certainly a good value and it’s a great starting point.  The unlock price at FTDNA will be $39, same as for Ancestry or the 23andMe V3 chip.

After transferring to Family Tree DNA, males can test the Y STR markers and they will already have over 17,000 haplogroup defining SNPs tested.  Bennett said the SNPs known about a year ago when the cutoff for the new chip was made were included.

The new Geno 2.0 NG chip is an Illumina chip, customized but compatible with the chip used by Family Tree DNA.

National Geographic wants to expand their research partnerships as well to include qualified genetic genealogists, citizen scientists and those in other academic fields.

2015 ftdna vilar data base

Nat Geo has established an application process.  If you are interested, contact Dr. Vilar at his e-mail above.

Additionally, National Geographic has 11 new grantees doing fieldwork now in Chilean Patagonia.

2015 ftdna vilar field work

An exciting aspect of this work is that 48 ancient DNA samples are being included and compared to 70 modern samples.

2015 ftdna vilar ancient

National Geographic continues to publish research papers and have published 55 to date, with 5 more being near publication which is expected yet this year.  I will publish a list shortly on this blog.

2015 ftdna vilar papers

One of the questions that has been concerning genetic genealogists is how the recent sale of part of the National Geographic assets will affect the Genographhic project.

I asked Miguel privately, and he said that the research arm stays under the nonprofit National Geographic, but that the kit and website have both fallen in the group of products that have been sold to 21st Century Fox.  Miguel said that he really didn’t have any answers at this time, but that the research continues and that the details are being worked out.

For those who don’t know, Spencer Wells stepped down as the director of the Genographic Project several months ago, but remains involved in a consulting capacity.

Michael Davila, Director of Product Marketing

Bennett introduced Michael Davila, the new Director of Product Marketing.  Michael isn’t new to Family Tree DNA.  He worked there for several years, from 2004-2011 when he left to work for a few years in the oil and gas industry, returning to FTDNA a few months ago in his new capacity.

2015 ftdna davila

Michael had one very short message.  He knows there are problems and he is committed to getting them fixed and to providing tools for customers.  The message, “Tools, tools, tools.”

Short, sweet and right to business.

I had a chance to meet with Michael outside of the conference room and I want to say that I’m very encouraged by Michael’s direct approach.  He is insightful, understands the situation at hand and knows what needs to be done.

After Michael’s brief commentary, a general Q and A session followed.  One of the questions was for Michael, and I just happened to catch this candid of Michael and Bennett!  Not sure what Michael was saying, but it looks like it gave Bennett a migraine!

2015 ftdna q and a

Actually, I think Bennett is concentrating on deciphering a question submitted by an attendee.

ISOGG Party

Saturday evening is traditionally the ISOGG party, but it’s not like a party you might generally think of.  There is a lot of tutoring and collaborating that goes on.  Friendships are made and renewed.  Just being together is great.  I mean, it’s not like we can have a discussion about SNP mutations rates at the dinner table at home.

2015 ftdna collaboration

You can see two different groups discussing aspects of genetic genealogy here.

At the party and also at Sunday’s sessions, lot of people were wearing the cool t-shirts gifted to participants by Family Tree DNA.

2015 ftdna tshirt

2015 ftdna tshirt 2

When we got back to our rooms, we discovered that even the hotel staff was in the spirit!!

2015 ftdna hotel

ISOGG Meeting

Sunday morning is traditionally the ISOGG meeting.  Not everyone attends, unfortunately, because not everyone is a member.  Everyone is welcome, and since membership is free, it’s easy to join at www.isogg.org.

2015 ftdna borges

Katherine Borges was the original founder of ISOGG and still functions as the Director.  ISOGG is celebrating its 10th anniversary this year, after being founded after the first genetic genealogy conference in Houston in 2004.

2015 ftdna 2004

Katherine found a few photos of that first conference which was only one day and was held in a facility later destroyed by hurricane Ike, I believe.  You can see more 2004 photos here and photos from other years here.

2015 ftdna 2004 max

I don’t think Max (above) and Bennett had any idea what kind of a legacy they were creating with that first conference.  History was being made.

2015 ftdna 2004 bennett

Another function of ISOGG was the creation and maintenance of the Y SNP Tree.  The tree was begun 9 years ago and has been organized and maintained by Alice Fairhurst this entire time.

2015 ftdna tree

In 2012, the Y tree had 800+ SNPs, but beginning with the introduction of the Big Y test, the SNP tsunami began.  Today, there are over 15,000 SNPs on the tree, all entered by hand by Alice.  Fortunately, each haplogroup has a coordinator, but still the increase in SNPs and the magnitude of the task at hand has been overwhelming.

Quality has to be maintained, because the tree is regularly referenced by academics as well as by genetic genealogists.  Today, any SNP found in a Big Y type of next generation scan test must but be confirmed by Sanger sequencing.  I know this is frustrating to some, but given the uncertainty of scanned SNPs, it’s also essential to maintaining the tree’s integrity.

Alice recently retired from heading the ISOGG Tree project and was presented with an award for her nine years of service to the genetic genealogy community by Katherine Borges on behalf of ISOGG.

2015 ftdna fairhurst

In Alice’s comments, she said that “We have all driven a new industry.”  Alice played a central and pivotal part.

Alice received a richly deserved standing ovation.

2015 ftdna standing ovation

But we weren’t the only ones thanking Alice.  Max and Bennett presented Alice with a certificate of appreciation for her years of service as well.

2015 ftdna fairhurst 2

I was really pleased to see this.  Not only is Alice extremely deserving of the recognition, but volunteers are too often unthanked and under-appreciated.

Panel Discussion:  Protecting Ourselves: AHGS and Genetic Genealogy Standards

Have you ever been invited to a party, had to decline with genuine regrets, then later, been very glad that you didn’t attend.  This describes the AHGS meetings for me.  In 2013, I was invited to the first conference and couldn’t attend, but given what transpired and the difficult environment at the conferences, I’m grateful in retrospect.

Those who did attend, and those who subsequently developed the Genetic Genealogy Standards document formed a panel, moderated by Bennett Greenspan, to discuss those meetings and standards.

2015 ftdna panel

Panel members left to right, Katherine Borges, Steven Perkins, Dr. Tim Janzen, Jennifer Zinck and Debbie Parker Wayne.

In a nutshell, genetic genealogy had come to the attention of the American Human Genetics Society and not in a positive way.  They didn’t understand what we are doing, and they became somewhat polarized on the idea of “harms.”  What harms, you ask? Well, so did we.  Apparently the harms they are concerned about are things like Y DNA testing revealing non-parental events.

The good news is that after this years meeting, it appears that the word “harms” has been removed and as a proactive measure, the genetic genealogy community created its own standards and guidelines.

You can read the resulting standards created by genetic genealogists here.

Brad Larkin Presents Genetic Genealogist of the Year Award

Brad Larkin, on behalf of the Surname DNA Journal, presented the second annual Genetic Genealogist of the Year Award to Maurice Gleeson.

2015 ftdna larkin

The Surname DNA Journal would be a wonderful resource to publish many of these presentations – hint, hint to the presenters!!!

2015 ftdna gleeson

Maurice has organized Genetic Genealogy Ireland in Dublin since 2012, in addition to presenting widely.  He also has a very successful series of genetic genealogy videos on YouTube which I highly recommend.

2015 ftdna award

Maurice is a man of many talents – a psychiatrist and pharmaceutical physician, a professional actor and of course, a genetic genealogist.  He has another talent as well – he can make absolutely anything interesting.  If you ever hear that Maurice is giving a lecture on dust – by all means attend! It will be the highlight of your week, I guarantee.

Maurice, congratulations on your well-deserved honor and Brad, thank you for recognizing one of our colleagues.

Maurice Gleeson – Combining SNPs, STRs and Genealogy to Build a Surname Origins Tree

2015 ftdna gleeson open

Maurice, like many of us, wants to be able to use STRs and SNPs in combination with genealogy records to construct accurate lineage trees.  In addition, when genealogy records connecting people to their common ancestor are missing, we’d still like to be able to construct at least a hypothetical or genetically accurate tree.

2015 ftdna gleeson build tree

During this process, Maurice encountered several challenges, including.

  • Parallel mutations
  • Back mutations
  • Markers behaving unusually
  • Multi-copy markers
  • Unstable markers
  • Lack of mutation rate for some markers
  • Lack of standardized mutation rate for SNPs
  • Difficulty determining if a SNP is present or absent
  • Convergence issues
  • False negatives
  • False positives
  • Unregulated naming
  • Project members testing at different levels

Maurice did, however, provide us with the secret to success.

2015 ftdna gleeson essential technology

He began with hot cocoa and chocolate, but he said by the end of the project, he had an empty whiskey bottle and was taking anxiety medication:)

Maurice began by drawing a typical pedigree chart, based upon the project results, reflecting what he believed would be where the mutations would have occurred based on line marker mutations.

2015 ftdna gleeson mutations

Then, with the assistance of Ralph Taylor, he drew Fluxus diagrams of the likely joining patterns of each set of possible outcomes.  The outcomes included and then omitted various markers experimentally for various reasons related to the challenge list above.

2015 ftdna gleeson fluxus

Maurice shared lots of slides with us reflecting several different mutation sequence possibilities.  I have omitted them, in part because I can’t explain why Maurice did what he did.  I understood it at the time, but without the slides to take notes on, I don’t think I could reconvey it correctly.  I would suggest that you obtain his slides from this link and view those in conjunction with Jennifer Zinck’s notes from his lecture.

In the end, Maurice did reach a “most probable” fit for both STRs and SNPs, although with some caveats, some of which were caused by participants who had only tested at 37 markers.

Maurice closed with lessons learned and future opportunities.

2015 ftdna gleeson lessons

2015 ftdna gleeson lessons 2

2015 ftdna gleeson lessons 3

2015 ftdna gleeson lessons 4

Maurice, this would make a fantastic YouTube video!!  It was a wonderful lecture.

James Irvine – Surname Projects, Some Fresh Ideas

2015 ftdna irvine projects

James has been working with the Scots-Irish Irvine project for the past ten years.

2015 ftdna irvine

James Irvine and Maurice Gleeson are both trying to achieve many of the same goals, but are using somewhat different methods.

James creates his own spreadsheets for his project members which include not only STR markers, but lineage defining SNPs as well.  Furthermore, James utilizes weighting for each STR marker based on its mutation rate, something the main project spreadsheet does not take into consideration in the step-wise mutations.  However, James feels the TIP calculations, which do take mutation rate into consideration are really quite accurate, based on his reconstructed pedigrees.

2015 ftdna irvine tip

Unfortunately, it’s at this point that my camera battery died completely, so I don’t have any further photos of his presentation, but would encourage you to download his slides for yourself at this link.

James discussed the varying SNPs reported by different entities and compares the results.  The Big Y from Family Tree DNA, the results as analyzed by the appropriate project administrator(s), by a third party entity and then what he found himself.  The various analysis and what they considered to be valid SNPs varied significantly.

Which one is accurate, and why and how does this in reality affect what we can surmise of the genealogy and constructing family trees?  We just don’t know yet – but we are working with what we have.

One thing he mentioned is that the 495 STRs extracted by third parties from Family Tree DNA Big Y files are not necessarily reliable – which of course calls into question the reliability of any STR extracted from a next generation sequenced file.  This also confirms why Sanger sequencing is required for SNPs to be added to the ISOGG tree.

Break Out Sessions

Sunday’s breakout sessions once again included sessions that would hopefully appeal to a wide range of audiences.

Katherine Borges – Nulls: The Value of Nothing (Y-DNA)
Matt Dexter – Surveying Ancestry Using Autosomal DNA Results
Jim Brewster – Getting Started with GAP

I attended Matt’s session, capturing only one photo with my phone.  My apologies.

Matt discussed the foundation principles of autosomal testing and analysis, and how adoptees use this technology to find their families.

Roberta Estes – Y-DNA to Autosomal Case Study – Kicking It Up a Notch

2015 ftdna estes

(Thank you Jennifer Zinck for permission to use this photo.)

Lots of folks have sleepy Y DNA projects and wonder what else can be discovered utilizing these core projects.  I did too, so I decided to try and see what happened if I expanded the Crumley Y project to include autosomal.

We began with 4 men who were Y DNA descendants of James Crumley born in 1712.  These men descended from two of James’ sons, John and William.

We began our transition from Y to Y+Autosomal by upgrading all 4 men to the Family Finder test.  We then set about recruiting additional members including those who are not male and do not carry the Crumley surname today.

2015 ftdna estes recruiting

The response was quite surprising and we quickly had 50 members, about 30 of whom descended from those same two sons.  However, the descendants of the sons are today 7 generations distant, so 6th cousins, at the closest generation.  The furthest distant from each other were 8th cousins once removed.

This begged several questions.

2015 ftdna estes curious

While the prediction models suggested that they wouldn’t match, they did.

2015 ftdna estes james

In essence, we began to reconstruct the genome of James Crumley through his descendants by creating a spreadsheet showing how each Crumley descendant matched each other Crumley descendant.  We utilized the same tools that we use for our own autosomal comparisons, some in a slightly different way.

2015 ftdna estes tools

This shows an example of three match groups of James’s descendants where the blue son, John’s descendants, are matching to the green son, William’s descendants on portions of chromosome 1.

2015 ftdna estes match list

Because I’m a visual person, I wanted to reconstruct James and Catherine’s genome on their chromosomes, so I utilized Kitty Cooper’s tools in ways they really weren’t quite designed for.  Normally they are used to place your ancestral segment on your own chromosomes.  Here, I used them to map James descendants matching DNA onto “James” chromosomes.

2015 ftdna estes james recreate2

We actually accomplished several things and made multiple discoveries, many of which were entirely unexpected.  I showed what we had discovered in the Y only project contrasted to the Y+autosomal project.

2015 ftdna estes accomplishments

Last, I discussed how to transition a project from Y only to Y+autosomal.

2015 ftdna estes transition

My slides are available at this link, and I will be writing a series of articles from this research to be published in the upcoming weeks on my blog.

Dr. Connie Bormans, Laboratory Director, Tom Richard, Customer Support Manager and Mike Alexander, Director of Engineering

All three of these individuals have extremely critical positions at Family Tree DNA, all with very specific challenges.

Connie discussed sequencing technology and the differences between the different types of technology utilized for different tests.

Tom talked about several things he has done in less than a year at Family Tree DNA to improve customer service – and it has improved greatly.  I spoke with him offline as well, and he has lots of plans going forward.

It’s wonderful to see such capable and motivated management team members.

2015 ftdna richard

Me with Tom Richard.  I love meeting the staff and seeing them each year.  It makes communicating with someone you know the rest of the year much easier.

Mike Alexander comes from NASA and his motto is the famous Gene Kranz statement, “Failure is not an option.”  For those who don’t know, Kranz was the flight director credited with saving the Apollo 13 crew.

Little did Mike know, a few years ago, I sat in that seat in the Johnson Space Center and I have a t-shirt with that very saying.

2015 ftdna nasa

Needless to say, I am greatly encouraged by Mike’s NASA experience and believe it will serve him, and Family Tree DNA, very well.  Because, well, failure is not an option.

The Sale

I don’t know if Max and Bennett ever meant for this to happen, but it’s become a tradition that they announce a sale of some type during or at the end of the conference.  They closed this conference with the announcement that the Holiday Sale was beginning and would continue until the end of the year.  You can read about the sale and exchange coupons here.

Thank you Max and Bennett!

In Summary

This was an absolutely wonderful conference.  I so enjoyed renewing old friendships and meeting new people.  I’m very glad to see younger people and new admins interested and involved as well, because they are the next generation that will push what we’ve viewed as the frontier into the mainstream.

One day, we really will be constructing and reconstructing ancestors.  We may be able to see their faces, know the color of their eyes and perhaps some of their traits.  In another five years, we’ll be doing things we can’t even imagine today, and we’ll be pushing yet another line in the ever-expanding frontier of genetic genealogy.

Like I said when I closed my session, it takes a village.  A village of participants to test, a village of administrators organizing and analyzing results, and pushing the proverbial research envelope.  And it requires advanced tools and the supportive and incubational environment provided by Family Tree DNA.  Without any of those things, we would fail.  Thankfully, we won’t.

Maurice Gleeson perhaps said it best in his closing, “Max, Bennett, without you, there is no us.”

We truly are a partnership!

2015 ftdna me bennett

Family Tree DNA 2015 Holiday Sale Begins NOW

Family Tree DNA’s annual holiday sale begins NOW and has two parts.

First, the prices are reduced for almost all tests and upgrades – for new and existing customers, both.

Second, existing customers whose e-mail is in the data base will receive a new coupon every Monday and the mystery discount can be applied IN ADDITION to the sale price upon checkout.

Please note, if you don’t receive the e-mail on Mondays, it may be caught in a spam filter someplace or the internet troll grabbed it.  Just sign on to your account and the coupon is displayed there as well.

2015 Mystery Gift

Like last year, you can list your coupon discounts available, if you’re not going to use them, for others to use in the comments of each week’s blog article about the sale and sharing.  You can also request something specific.  I’ll start.

My coupon this week is R7DU2DHF and it’s for $5 off of any mtDNA test – so if you’ve been wanting to test or upgrade, now might be a good time.  Each coupon can only be used once (so first come, first serve of shared codes) and expires the following Monday when the next coupon is issued.

Click here to order or upgrade tests, see prices, or redeem coupons.

Read below for the details.2015 FTDNA Holiday Sale

Dear Group Administrators,

We’re excited to announce the launch of our 2015 Holiday sale! It will starts today  and ends on December 31st @ 11:59PM Central Time.

You’ll find a full list of the sale prices on the FTDNA website. Similar to last year, we’re adding a treat to this year’s great deals – our Mystery Reward discounts! The Mystery Reward will be a randomized discount (up to $75 off) that can be applied on top of the already reduced Holiday Sale prices. You’ll get a new Mystery Reward every week as well as after making a purchase. You can use the discounts or share them with friends!

The Mystery Reward icon will appear on testers’ myFTDNA dashboard each week. Each code will expire the night before the next Mystery Reward appears. We’ll also send an email notification to the kit’s primary email address when a new code is available for use or sharing.

Sincerely,

The Team at Family Tree DNA

Click here to order.

Get Your Ducks in a Row – Time May Be Shorter Than You Think

ducks

Helen Rutledge is my cousin.  She and I have been sniffing around the same records in the same counties for many years now.  I only wish we had met earlier so we could have shared more of the chase.

Helen is no “spring chicken” as we say on the farm.  In fact, Helen has continued to research far into her golden years – being in her 90s now.  Want to hear the great irony? Helen has no children to leave her work to – but this does not deter her.  Helen is the aunt that every one of us wants to have in our family.

Recently Helen sent me an e-mail that both saddened me and inspired me, and with her permission, I’m sharing it with you.  I have omitted some of the more personal portions.

After 13 days in the hospital I returned to long term nursing care. I brought my computer and genealogy records from Assisted Living to my new level of care. However, now instead of researching, I am organizing my research to leave for my nephew and some research archives. I have been forewarned in the most urgent way that there may not be time to think about how I will do this when the research is done. Well, we all know research is never finished.

Keep urging perseveration of research on your blog. It is as important as the research itself. Answers are no good if I am the only one who knows the answer to the puzzle…I must share it with others whether they give me credit or not. I thank you for alerting me to that truth and God for allowing me extended days to get my records in order as a gift to other researchers. Oh, the many little tidbits I have garnered, documented, and put together for those who follow in my footsteps with our family lineage.

Organization is not just entering our data into a genealogy program. It is documenting, making copies of the documents available when possible, and recording the ORDER of our research so those who are not familiar with the records, can follow the generations and become acquainted with their ancestors.

Be honest, say information is not documented, when such is the case, and challenge your readers to find documentation. Try to inspire descendants to fill in the blanks and record those who are yet unborn. While they will miss the thrill of solving the puzzle after years of frustration, they will know the joy of learning who they are.

Thank you, Helen, for your lovely, inspirational message. Sometimes we aren’t fortunate enough to receive a warning.

Another e-mail this week told of another cousin’s husband who died suddenly, with no warning, and he was 30 years younger than Helen.

DNA in Perpetuity

I would add one thing though, and that is to record your user names and passwords – especially relative to DNA accounts and tests and anyplace, like GedMatch, you have uploaded your results.  Your DNA can never, and I repeat, NEVER, be replaced, while genealogy research could be with enough effort.  Don’t let your DNA results become inaccessible.

At Family Tree DNA, you can designate a beneficiary.

On your personal page, under “Your Account” on the left hand side, select “Manage Personal Information.”

ducks2

Then select Beneficiary Information and complete the form which includes your beneficiary’s name, e-mail and phone number.  If you should pass away, this is who Family Tree DNA will allow to access your account.  Other companies, to the best of my knowledge don’t include this information or provide this option, so you’ll need to be sure to leave your account access information available for your family members.

ducks3

If you have not prepared for the inevitable, please take a few minutes to do so.   You can make the DNA arrangements now, and easily.

Remember, at Ancestry, your DNA won’t be available unless your account (subscription and login) remains active, so you’ll need to take how to handle that into consideration.

You might want to download not just your raw data files, but matches as well when possible.

Public Sites

Upload your Y and mitochondrial DNA to sites like http://www.ysearch.org and http://www.mitosearch.org.  Be sure to record the most distant ancestor and enough information to positively identify them, like birth and death dates, locations and spouse’s name.  This is the only way to get your info into a public data base that is accessible without having DNA tested for a match.  You can also enter Y and mito info at http://www.wikitree.com and attach it to the proper ancestor.  This helps others in the future learn about their ancestors.  Be sure to include your full haplogroup in the notes and a link to anything you may have published about that line.

Upload your autosomal results to http://www.gedmatch.com and upload trees where possible.

Don’t put all of your eggs in one basket, because baskets aren’t forever either.  Think about how many genealogy companies have come and gone and what happened to our Y and mitochondrial DNA with both Ancestry and Sorenson (also destroyed by Ancesty).

Genealogy Research

You can take a few minutes to put together a plan for how to preserve and present the balance of your genealogy information.  Preserving and publishing my genealogy research has been on my bucket list for some time now and is the purpose of the 52 Ancestors articles I’ve been writing for the past 18 months.  I’ll write them until every ancestor is covered….or I can no longer write the articles – and I sincerely hope I have the opportunity to finish.  Not just for my own sake, but for the benefit of everyone else who follows.  I hope future researchers make huge breakthroughs and add immensely to what I know today.  My work will at least give them a firm foundation to start from and they won’t have to replow the same ground.

One of the avenues to preserve your work online is a blog.  WordPress offers free blogs and they will be available into perpetuity, whatever that really means.  I am also printing my articles and will be donating them to archival facilities like the Allen County Public Library.  And of course, I’ll have a set of binders for each of my children.

WikiTree is another public resource for your trees, your Y and mtDNA results and additional information, although that’s not the same as offering the detail in an article.

So, however you choose to do whatever you choose to do… just do it.

And do it now.

You may not have an opportunity later.

Time may be shorter than you think.

Get your ducks in a row.

Autosomal DNA Matching Confidence Spectrum

Are you confused about DNA matches and what they mean…different kinds of matches…from different vendors and combined results between vendors.  Do you feel like lions and tigers and bears…oh my?  You’re not alone.

As the vendors add more tools, I’ve noticed recently that along with those tools has come a significant amount of confusion surrounding matches and what they mean.  Add to this issue confusion about the terminology being used within the industry to describe various kinds of matches.  Combined, we now have a verbiage or terminology issue and we have confusion regarding the actual matches and what they mean.  So, as people talk, what they mean, what they are trying to communicate and what they do say can be interpreted quite widely.  Is it any wonder so many people are confused?

I reached out within the community to others who I know are working with autosomal results on a daily basis and often engaged in pioneering research to see how they are categorizing these results and how they are referring to them.

I want to thank Jim Bartlett, Blaine Bettinger, Tim Janzen and David Pike (in surname alphabetical order) for their input and discussion about these topics.  I hope that this article goes a long way towards sorting through the various kinds of matches and what they can and do mean to genetic genealogists – and what they are being called.  To be clear, the article is mine and I have quoted them specifically when applicable.

But first, let’s talk about goals.

Goals

One thing that has become apparent over the past few months is that your goals may well affect how you interpret data.  For example, if you are an adoptee, you’re going to be looking first at your closest matches and your largest segments.  Distant matches and small segments are irrelevant at least until you work with the big pieces.  The theory of low hanging fruit, of course.

If your goal is to verify and generally validate your existing genealogy, you may be perfectly happy with Ancestry’s Circles.  Ancestry Circles aren’t proof, as many people think, but if you’re looking for low hanging fruit and “probably” versus “positively,” Ancestry Circles may be the answer for you.

If you didn’t stop reading after the last sentence, then I’m guessing that “probably” isn’t your style.

If your goal is to prove each ancestor and/or map their segments to your DNA, you’re not going to be at all happy with Ancestry’s lack of segment data – so your confidence and happiness level is going to be greatly different than someone who is just looking to find themselves in circles with other descendants of the same ancestor and go merrily on their way.

If you have already connected the dots on most of your ancestry for the past 4 or 5 generations, and you’re working primarily with colonial ancestors and those born before 1700, you may be profoundly interested in small segment data, while someone else decides to eliminate that same data on their spreadsheet to eliminate clutter.  One person’s clutter is another’s goldmine.

While, technically, the different types of tests and matches carry a different technical confidence level, your personal confidence ranking will be influenced by your own goals and by some secondary factors like how many other people match on a particular segment.

Let’s start by talking about the different kinds of matching.  I’ve been working with my Crumley line, so I’ll be utilizing examples from that project.

Individual Matching, Group Matching and Triangulation

There is a difference between individual matching, group matching and triangulation.  In fact, there is a whole spectrum of matching to be considered.

Individual Matching

Individual matching is when someone matches you.

confidence individual match

That’s great, but one match out of context generally isn’t worth much.  There’s that word, generally, because if there is one thing that is almost always true, it’s that there is an exception to every rule and that exception often has to do with context.  For example, if you’re looking for parents and siblings, then one match is all you need.

If this match happens to be to my first cousin, that alone confirms several things for me, assuming there is not a secondary relationship.  First, it confirms my relationship with my parent and my parent’s descent from their parents, since I couldn’t be matching my first cousin (at first cousin level) if all of the lines between me and the cousin weren’t intact.

confidence cousins

However, if the match is to someone I don’t know, and it’s not a close relative, like the 2nd to 4th cousins shown in the match above, then it’s meaningless without additional information.  Most of your matches will be more distant.  Let’s face it, you have a lot more distant cousins than close cousins.  Many ancestors, especially before about 1900, were indeed, prolific, at least by today’s standards.

So, at this point, your match list looks like this:

confidence match list

Bridget looks pretty lonely.  Let’s see what we can do about that.

Matching Additional People

The first question is “do you share a common ancestor with that individual?”  If yes, then that is a really big hint – but it’s not proof of anything – unless they are a close relative match like we discussed above.

Why isn’t a single match enough for proof?

You could be related to this person through more than one ancestral line – and that happens far more than I initially thought.  I did an analysis some time back and discovered that about 15% of the time, I can confirm a secondary genealogical line that is not related to the first line in my tree.  There were another 7% that were probable – meaning that I can’t identify a second common ancestor with certainty, but the surname and location is the same and a connection is likely.  Another 8% were from endogamous lines, like Acadians, so I’m sure there are multiple lines involved.  And of those matches (minus the Acadians), about 10% look to have 3 genealogical lines, not just two.  The message here – never assume.

When you find one match and identify one common genealogical line, you can’t assume that is how you are genetically related on the segment in question.

Ideally, at this point, you will find a third person who shares the common ancestor and their DNA matches, or triangulates, between you and your original match to prove the connection.  But, circumstances are not always ideal.

What is Triangualtion?

Triangulation on the continuum of confidence is the highest confidence level achievable, outside of close relative matching which is evident by itself without triangulation.

Triangulation is when you match two people who share a common ancestor and all three of you match each other on that same segment.  This means that segment descended to all three of you from that common ancestor.

This is what a match group would look like if Jerry matches both John and Bridget.

confidence example 1 match group

Example 1 – Match Group

The classic definition of triangulation is when three people, A, B and C all match each other on the same segment and share a known, identifiable common ancestor.  Above, we only have two.  We don’t know yet if John matches Bridget.

A matches B
A matches C
B matches C

This is what an exact triangulation group would look like between Jerry, John and Bridget.  Most triangulation matches aren’t exact, meaning the start and/or end segment might be different, but some are exact.

confidence example 2 triangulation group

Example 2 – Triangulation Group

It’s not always possible to prove all three.  Sometimes you can see that Jerry matches Bridget and Jerry matches John, but you have no access to John or Bridget’s kits to verify that they also match each other.  If you are at Family Tree DNA, you can run the ICW (in common with) tool to see if John and Bridget do match each other – but that tool does not confirm that they match on the same segment.

If the individuals involved have uploaded their kits to GedMatch, you have the ability to triangulate because you can see the kit numbers of your matches and you can then run them against each other to verify that they do indeed match each other as well.  Not everyone uploads their kits to GedMatch, so you may wind up with a hybrid combination of triangulated groups (like example 2, above) and matching groups (like example 1, above) on your own personal spreadsheet.

Matching groups (that are not triangulated) are referred to by different names within the community.  Tim Janzen refers to them as clusters of cousins, Blaine as pseudo triangulation and I have called them triangulation groups in the past if any three within the group are proven to be triangulated. Be careful when you’re discussing this, because matching groups are often misstated as triangulated groups.  You’ll want to clarify.

Creating a Match List

Sometimes triangulation options aren’t available to us.  For example, at Family Tree DNA, we can see who matches us, and we can see if they match each other utilizing the ICW tool, but we can’t see specifically where they match each other.  This is considered a match group.  This type of matching is also where a great deal of confusion is introduced because these people do match each other, but they are NOT (yet) triangulated.

What we know is that all of these people are on YOUR match list, but we don’t know that they are on each other’s match lists.  They could be matching you on different sides of your DNA or, if smaller segments, they might be IBC (identical by chance.)

You can run the ICW (in common with) tool at Family Tree DNA for every match you have.  The ICW tool is a good way to see who matches both people in question.  Hopefully, some of your matches will have uploaded trees and you can peruse for common ancestors.

The ICW tool is the little crossed arrows and it shows you who you and that person also match in common.

confidence match list ftdna

You can run the ICW tool in conjunction with the ancestral surname in question, showing only individuals who you have matches in common with who have the Crumley surname (for example) in their ancestral surname list.  This is a huge timesaver and narrows your scope of search immediately.  By clicking on the ICW tool for Ms. Bridget,  you see the list, below of those who match both the person whose account we are signed into and Ms. Bridget, below.

confidence icw ftdna

Another way to find common matches to any individual is to search by either the current surname or ancestral surnames.  The ancestral surname search checks the surnames entered by other participants and shows them in the results box.

In the example above, all of these individuals have Crumley listed in their surnames.  You can see that I’ve sorted by ancestral surname – as Crumley is in that search box.

Now, your match lists looks like this relative to the Crumley line.  Some people included trees and you can find your common ancestor on their tree, or through communications with them directly.  In other cases, no tree but the common surname appears in the surname match list.  You may want to note those results on your match list as well.

confidence match list 2

Of course, the next step is to compare these individuals in a matrix to see who matches who and the chromosome browser to see where they match you, which we’ll discuss momentarily.

Group Matching

The next type of matching is when you have a group of people who match each other, but not necessarily on the same segment of DNA.  These matching groups are very important, especially when you know there is a shared ancestor involved – but they don’t indicate that the people share the same segment, nor that all (or any) of their shared segments are from this particular ancestor.  Triangulation is the only thing that accomplishes proof positive.

This ICW matrix shows some of the Crumley participants who have tested and who matches whom.

confidence icw grid

You can display this grid by matching total cM or by known relationship (assuming the individuals have entered this information) or by predicted relationship range.  The total cMs shared is more important for me in evaluating how closely this person might be related to the other individual.

The Chromosome Browser

The chromosome browser at Family Tree DNA shows matches from the perspective of any one individual.  This means that the background display of the 22 Chromosomes (plus X) is the person all of the matches are comparing against. If you’re signed in to your account, then you are the black background chromosomes, and everyone is being compared against your DNA.  I’m only showing the first 6 chromosomes below.

confidence chromosome browser

You can see where up to 5 individuals match the person you’re comparing them to.  In this case, it looks like they may share a common segment on chromosome 2 among several descendants.  Of course, you’d need to check each of these individuals to insure that they match each other on this same segment to confirm that indeed, it did come from a common ancestor.  That’s triangulation.

When you see a grouping of matches of individuals known to descend from a common ancestor on the same chromosome, it’s very likely that you have a match group (cluster of cousins, pseudo triangulation group) and they will all match each other on that same segment if you have the opportunity to triangulate them, but it’s not absolute.

For example, below we have a reconstructed chromosome 8 of James Crumley, the common ancestor of a large group of people shown based on matches.  In other words, each colored segment represents a match between two people.  I have a lot more confidence in the matches shown with the arrows than the single or less frequent matches.

confidence chromosome 8 match group'

This pseudo triangulation is really very important, because it’s not just a match, and it’s not triangulation.  The more people you have that match you on this segment and that have the same ancestor, the more likely that this segment will triangulate.  This is also where much of the confusion is coming from, because matching groups of multiple descendants on the same segments almost always do triangulate so they have been being called triangulation groups, even when they have not all been triangulated to each other.  Very occasionally, you will find a group of several people with a common ancestor who triangulate to each other on this common segment, except one of a group doesn’t triangulate to one other, but otherwise, they all triangulate to others.

confidence triangulation issue

This situation has to be an error of some sort, because if all of these people match each other, including B, then B really must match D.  Our group discussed this, and Jim Bartlett pointed out that these problem matches are often near the vendor matching threshold (or your threshold if you’re using GedMatch) and if the threshold is lowered a bit, they continue to match.  They may also be a marginal match on the edge, so to speak or they may have a read error at a critical location in their kit.

What “in common with” matching does is to increase your confidence that these are indeed ancestral matches, a cousin cluster, but it’s not yet triangulation.

Ancestry Matches

Ancestry has added another level of matching into the mix.  The difference is, of course, that you can’t see any segment data at all, at Ancestry, so you don’t have anything other than the fact that you do match the other person and if you have a shakey leaf hint, you also share a common ancestor in your trees.

confidence ancestry matches

When three people match each other on any segment (meaning this does not infer a common segment match) and also share a common ancestor in a tree, they qualify to be a DNA Circle.  However, there is other criteria that is weighted and not every group of 3 individuals who match and share an ancestor becomes a DNA Circle.  However, many do and many Circles have significantly more than three individuals.

confidence Phoebe Crumley circle

This DNA Circle is for Phebe Crumley, one of my Crumley ancestors.  In this grouping, I match one close family group of 5 people, and one individual, Alyssa, all of whom share Phebe Crumley in their trees.  As luck would have it, the family group has also tested at Family Tree DNA and has downloaded their results to GedMatch, but as it stands here at Ancestry, with DNA Circle data only…the only thing I can do is to add them to my match list.

confidence match list 3

In case you’re wondering, the reason I only added three of the 5 family members of the Abija group to my match list is because two are children of one of the members and their Crumley DNA is represented through their parent.

While a small DNA Circle like Phebe Crumley’s can be incorrect, because the individuals can indeed be sharing the DNA of a different ancestor, a larger group gives you more confidence that the relationship to that group of people is actually through the common ancestor whose circle you are a member of.  In the example Circle shown below, I match 6 individuals out of a total of 21 individuals who are all interrelated and share Henry Bolton in their tree.

Confidence Henry Bolton circle

New Ancestor Discoveries

Ancestry introduced New Ancestor Discoveries (NADs) a few months ago.  This tool is, unfortunately, misnamed – and although this is a good concept for finding people whose DNA you share, but whose tree you don’t – it’s not mature yet.

The name causes people to misinterpret the “ancestors” given to them as genuinely theirs.  So far, I’ve had a total of 11 NADS and most have been easily proven false.

Here’s how NADs work.  Let’s say there is a DNA Circle, John Doe, of 3 people and you match two of them.  The assumption is that John Doe is also your ancestor because you share the DNA of his descendants.  This is a critically flawed assumption.  For example, in one case, my ancestors sister’s husband is shown as my “new ancestor discovery” because I share DNA with his descendants (through his wife, my ancestor’s sister.)  Like I said, not mature yet.

I have discussed this repeatedly, so let’s just suffice it to say for this discussion, that there is absolutely no confidence in NADs and they aren’t relevant.

Shared Matches

Ancestry recently added a Shared Matches function.

For each person that you match at Ancestry, that is a 4th cousin or closer and who has a high confidence match ranking, you can click on shared matches to see who you and they both match in common.

confidence ancestry shared matches

This does NOT mean you match these people through the same ancestor.  This does NOT mean you match them on the same segment.  I wrote about how I’ve used this tool, but without additional data, like segment data, you can’t do much more with this.

What I have done is to build a grid similar to the Family Tree DNA matrix where I’ve attempted to see who matches whom and if there is someone(s) within that group that I can identify as specifically descending from the same ancestor.  This is, unfortunately, extremely high maintenance for a very low return.  I might add someone to my match list if they matched a group (or circle) or people that match me, whose common ancestor I can clearly identify.

Shared Matches are the lowest item on the confidence chart – which is not to say they are useless.  They can provide hints that you can follow up on with more precise tools.

Let’s move to the highest confidence tool, triangulation groups.

Triangulation Groups

Of course, the next step, either at 23andMe, Family Tree DNA, through GedMatch, or some combination of each, is to compare the actual segments of the individuals involved.  This means, especially at Ancestry where you have no tools, that you need to develop a successful begging technique to convince your matches to download their data to GedMatch or Family Tree DNA, or both.  Most people don’t, but some will and that may be the someone you need.

You have three triangulation options:

  1. If you are working with the Family Inheritance Advanced at 23andMe, you can compare each of your matches with each other. I would still invite my matches to download to GedMatch so you can compare them with people who did not test at 23andMe.
  2. If you are working with a group of people at Family Tree DNA, you can ask them to run themselves against each other to see if they also match on the same segment that they both match you on. If you are a project administrator on a project where they are all members, you can do this cross-check matching yourself. You can also ask them to download their results to GedMatch.
  3. If your matches will download their results to GedMatch, you can run each individual against any other individual to confirm their common segment matches with you and with each other.

In reality, you will likely wind up with a mixture of matches on your match list and not everyone will upload to GedMatch.

Confirming that segments create a three way match when you share a common ancestor constitutes proof that you share that common ancestor and that particular DNA has been passed down from that ancestor to you.

confidence match list 4

I’ve built this confidence table relative to matches first found at Family Tree DNA, adding matches from Ancestry and following them to GedMatch.  Fortunately, the Abija group has tested at all 3 companies and also uploaded their results to GedMatch.  Some of my favorite cousins!

Spectrum of Confidence

Blaine Bettinger built this slide that sums up the tools and where they fall on the confidence range alone, without considerations of your goals and technical factors such as segment size.  Thanks Blaine for allowing me to share it here.

confidence level Blaine

These tools and techniques fall onto a spectrum of confidence, which I’ve tried to put into perspective, below.

confidence level highest to lowest

I really debated how to best show these.  Unfortunately, there is almost always some level of judgment involved. In some cases, like triangulation at the 3 vendors, the highest level is equivalent, but in other cases, like the medium range, it really is a spectrum from lowest to highest within that grouping.

Now, let’s take a look at our matches that we’ve added to our match list in confidence order.

confidence match list 5

As you would expect, those who triangulated with each other using some chromosome browser and share a common ancestor are the highest confidence matches – those 5 with a red Y.  These are followed by matches who match me and each other but not on the same segment (or at least we don’t know that), so they don’t triangulate, at least not yet.

I didn’t include any low confidence matches in this table, but of the lowest ones that are included, the shakey leaf matches at Ancestry that won’t answer inquiries and the matches at FTDNA who do share a common surname but didn’t download their information to be triangulated are the least confident of the group.  However, even those lower confidence matches on this chart are medium, meaning at Ancestry they are in a Circle and at FTDNA, they do match and share a common surname.  At Family Tree DNA, they may eventually fall into a triangulation group of other descendants who triangulate.

Caveats

As always, there are some gotchas.  As someone said in something I read recently, “autosomal DNA is messy.”

Endogamy

Endogamous populations are just a mess.  The problem is that literally, everyone is related to everyone, because the founder population DNA has just been passed around and around for generations with little or no new DNA being introduced.

Therefore, people who descend from endogamous populations often show to be much more closely related than they are in a genealogical timeframe.

Secondly, we have the issue pointed out by David Pike, and that is when you really don’t know where a particular segment came from, because the segment matches both the parents, or in some cases, multiple grandparents.  So, which grandparent did that actual segment that descended to the grandchild descend from?

For people who are from the same core population on both parent’s side, close matches are often your only “sure thing” and beyond that, hopefully you have your parents (at least one parent) available to match against, because that’s the only way of even beginning to sort into family groups.  This is known as phasing against your parents and while it’s a great tool for everyone to use – it’s essential to people who descend from endogamous groups. Endogamy makes genetic genealogy difficult.

In other cases, where you do have endogamy in your line, but only in one of your lines, endogamy can actually help you, because you will immediately know based on who those people match in addition to you (preferably on the same segment) which group they descend from.  I can’t tell you how many rows I have on my spreadsheet that are labeled with the word “Acadian,” “Brethren” and “Mennonite.”  I note the common ancestor we can find, but in reality, who knows which upstream ancestor in the endogamous population the DNA originated with.

Now, the bad news is that Ancestry runs a routine that removes DNA that they feel is too matchy in your results, and most of my Acadian matches disappeared when Ancestry implemented their form of population based phasing.

Identical by Population

There is sometimes a fine line between a match that’s from an ancestor one generation further back than you can go, and a match from generations ago via DNA found at a comparatively high percentage in a particular population.  You can’t tell the difference.  All you know is that you can’t assign that segment to an ancestor, and you may know it does phase against a parent, so it’s valid, meaning not IBC or identical by chance.

Yes, identical by population segment matching is a distinct problem with endogamy, but it can also be problematic with people from the same region of the world but not members of endogamous populations.  Endogamy is a term for the timeframe we’re familiar with.  We don’t know what happened before we know what happened.

From time to time, you’ll begin to see something “odd” happened where a group of segments that you already have triangulated to one ancestor will then begin to triangulate to a second ancestor.  I’m not talking about the normal two groups for every address – one from your Mom’s side and one from your Dad’s.  I’m talking, for example, when my Mom’s DNA in a particular area begins to triangulate to one ancestral group from Germany and one from France.  These clearly aren’t the same ancestors, and we know that one particular “spot” or segment range that I received from her DNA can only come from one ancestor.  But these segment matches look to be breaking that rule.

I created the example below to illustrate this phenomenon.  Notice that the top and bottom 3 all match nicely to me and to each other and share a common ancestor, although not the same common ancestor for the two groups.  However, the range significantly overlaps.  And then there is the match to Mary Ann in the middle whose common ancestor to me is unknown.

confidence IBP example

Generally, we see these on smaller segment groups, and this is indicative that you may be seeing an identical by population group.  Many people lump these IBP (identical by population) groups in with IBC, identical by chance, but they aren’t.  The difference is that the DNA in an IBP group truly is coming from your ancestors – it’s just that two distinct groups of ancestors have the same DNA because at some point, they shared a common ancestor.  This is the issue that “academic phasing” (as opposed to parental phasing) is trying to address.  This is what Ancestry calls “pileup areas” and attempts to weed out of your results.  It’s difficult to determine where the legitimate mathematical line is relative to genealogically useful matches versus ones that aren’t.  And as far as I’m concerned, knowing that my match is “European” or “Native” or “African” even if I can’t go any further is still useful.

Think about this, if every European has between 1 and 4% Neanderthal DNA from just a few Neanderthal individuals that lived more than 20,000 years ago in Europe – why wouldn’t we occasionally trip over some common DNA from long ago that found its way into two different family lines.

When I find these multiple groupings, which is actually relatively rare, I note them and just keep on matching and triangulating, although I don’t use these segments to draw any conclusions until a much larger triangulated segment match with an identified ancestor comes into play.  Confidence increases with larger segments.

This multiple grouping phenomenon is a hint of a story I don’t know – and may never know.  Just because I don’t quite know how to interpret it today doesn’t mean it isn’t valid.  In time, maybe its full story will be revealed.

ROH – Runs of Homozygosity

Autosomal DNA tests test someplace over 500,000 locations, depending on the vendor you select.  At each of those locations, you find a value of either T, A, C or G, representing a specific nucleotide.  Sometimes, you find runs of the same nucleotide, so you will find an entire group of all T, for example.  If either of your parents have all Ts in the same location, then you will match anyone with any combination of T and anything else.

confidence homozygosity example

In the example above, you can see that you inherited T from both your Mom and Dad.  Endogamy maybe?

Sally, although she will technically show as a match, doesn’t really “match” you.  It’s just a fluke that her DNA matches your DNA by hopping back and forth between her Mom’s and Dad’s DNA.  This is not a match my descent, but by chance, or IBC (identical by chance.)  There is no way for you to know this, except by also comparing your results to Sally’s parents – another example of parental phasing.  You won’t match Sally’s parents on this segment, so the segment is IBC.

Now let’s look at Joe.  Joe matches you legitimately, but you can’t tell by just looking at this whether Joe matches you on your Mom’s or Dad’s side.  Unfortunately, because no one’s DNA comes with a zipper or two sides of the street labeled Mom and Dad – the only way to determine how Joe matches you is to either phase against Joe’s parents or see who else Joe matches that you match, preferable on the same segment – in other words – create either a match or ICW group, or triangulation.

Segment Size

Everyone is in agreement about one thing.  Large segments are never IBC, identical by chance.  And I hate to use words like never, so today, interpret never to mean “not yet found.”  I’ve seen that large segment number be defined both 13cM and 15cM and “almost never” over 10cM.  There is currently discussion surrounding the X chromosome and false positives at about this threshold, but the jury is still out on this one.

Most medium segments hold true too.  Medium segment matches to multiple people with the same ancestors almost always hold true.  In fact, I don’t personally know of one that didn’t, but that isn’t to say it hasn’t happened.

By medium segments, most people say 7cM and above.  Some say 5cM and above with multiple matching individuals.

As the segment size decreases, the confidence level decreases too, but can be increased by either multiple matches on that segment from a common proven ancestor or, of course, triangulation.  Phasing against your parent also assures that the match is not IBD.  As you can see, there are tools and techniques to increase your confidence when dealing with small segments, and to eliminate IBC segments.

The issue of small segments, how and when they can be utilized is still unresolved.  Some people simply delete them.  I feel that is throwing the baby away with the bathwater and small segments that triangulate from a common ancestor and that don’t find themselves in the middle of a pileup region that is identical by population or that is known to be overly matchy (near the center of chromosome 6, for example) can be utilized.  In some cases, these segments are proven because that same small segment section is also proven against matches that are much larger in a few descendants.

Tim Janzen says that he is more inclined to look at the number of SNPs instead of the segment size, and his comfort number is 500 SNPs or above.

The flip side of this is, as David Pike mentioned, that the fewer locations you have in a row, the greater the chance that you can randomly match, or that you can have runs of heterozygosity.

No one in our discussion group felt that all small segments were useless, although the jury is still out in terms of consensus about what exactly defines a small segment and when they are legitimate and/or useful.  Everyone of us wants to work towards answers, because for those of us who are dealing with colonial ancestors and have already picked the available low hanging fruit, those tantalizing small segments may be all that is left of the ancestor we so desperately need to identify.

For example, I put together this chart detailing my matching DNA by generation. Interesting, I did a similar chart originally almost exactly three years ago and although it has seemed slow day by day, I made a lot of progress when a couple of brick walls fell, in particular, my Dutch wall thanks to Yvette Hoitink.

If you look at the green group of numbers, that is the amount of shared DNA to be expected at each level.  The number of shared cMs drops dramatically between the 5th and 6th generation from 13 cM which would be considered a reasonable matching level (according to the above discussion) at the 5th generation, and 3.32 cM at the 6th generation level, which is a small segment by anyone’s definition.

confidence segment size vs generation

The 6th generation was born roughly in 1760, and if you look to the white grouping to the right of the green group, you can see that my percentage of known ancestors is 84% in the 5th generation, 80% in the 6th generation, but drops quickly after that to 39, 22 and 3%, respectively.  So, the exact place where I need the most help is also the exact place where the expected amount of DNA drops from 13 to 3.32 cM.  This means, that if anyone ever wants to solve those genealogical puzzles in that timeframe utilizing genetic genealogy, we had better figure out how to utilize those small segments effectively – because it may well be all we have except for the occasional larger sticky segment that is passed intact from an ancestor many generations past.

From my perspective, it’s a crying shame that Ancestry gives us no segment data and it’s sad that 23andMe only gives us 5cM and above.  It’s a blessing that we can select our own threshold at GedMatch.  I’m extremely grateful that FTDNA shows us the small segment matches to 1cM and 500 SNPs if we also match on 20cM total and at least one segment over 7cM.  That’s a good compromise, because small segments are more likely to be legitimate if we have a legitimate match on a larger segment and a known ancestor.  We already discussed that the larger the matching segment, the more likely it is to be valid. I would like to see Family Tree DNA lower the matching threshold within projects.  Surname projects imply that a group of people will be expected to match, so I’d really like to be able to see those lower threshold matches.

I’m hopeful that Family Tree DNA will continue to provide small segment information to us.  People who don’t want to learn how to use or be bothered with small segments don’t have to.  Delete is perfectly legitimate option, but without the data, those of us who are interested in researching how to best utilize these segments, can’t.  And when we don’t have data to use, we all lose.  So, thank you Family Tree DNA.

Coming Full Circle

This discussion brings us full circle once again to goals.

Goals change over time.

My initial reason for testing, the first day an autosomal test could be ordered, was to see if my half-brother was my half-brother.  Obviously for that, I didn’t need matching to other people or triangulation.  The answer was either yes or no, we do match at the half-sibling level, or we don’t.

He wasn’t.  But by then, he was terminally ill, and I never told him.  It certainly explained why I wasn’t a transplant match for him.

My next goal, almost immediately, was to determine which if either my brother or I were the child of my father.  For that, we did need matching to other people, and preferably close cousins – the closer the better.  Autosomal DNA testing was new at that time, and I had to recruit cousins.  Bless those who took pity on me and tested, because I was truly desperate to know.

Suffice it to say that the wait was a roller coaster ride of emotion.

If I was not my father’s child, I had just done 30+ years of someone else’s genealogy – not a revelation I relished, at all.

I was my father’s child.  My brother wasn’t.  I was glad I never told him the first part, because I didn’t have to tell him this part either.

My goal at that point changed to more of a general interest nature as more cousins tested and we matched, verifying different lineages that has been unable to be verified by Y or mtDNA testing.

Then one day, something magical happened.

One of my Y lines, Marcus Younger, whose Y line is a result of a NPE, nonparental event, or said differently, an undocumented adoption, received amazing information.  The paternal Younger family line we believed Marcus descended from, he didn’t.  However, autosomal DNA confirmed that even though he is not the paternal child of that line, he is still autosomally related to that line, sharing a common ancestor – suggesting that he may have been born of a Younger female and given that surname, while carrying the Y DNA of his biological father, who remains unidentified.

Amazingly, the next day, a match popped up that matched me and another Younger relative.  This match descended not from the Younger line, but from Marcus Younger’s wife’s alleged surname family.  I suddenly realized that not only was autosomal DNA interesting for confirming your tree – it could also be used to break down long-standing brick walls.  That’s where I’ve been focused ever since.

That’s a very different goal from where I began, and my current goal utilizes the tools in a very different way than my earlier goals.  Confidence levels matter now, a great deal, where that first day, all I wanted was a yes or no.

Today, my goal, other than breaking down brick walls, is for genetic genealogy to become automated and much easier but without taking away our options or keeping us so “safe” that we have no tools (Ancestry).

The process that will allow us to refine genetic genealogy and group individuals and matches utilizing trees on our desktops will ultimately be the key to unraveling those distant connections.  The data is there, we just have to learn how to use it most effectively, and the key, other than software, is collaboration with many cousins.

Aside from science and technology, the other wonderful aspect of autosomal DNA testing is that is has the potential to unite and often, reunite families who didn’t even know they were families.  I’ve seen this over and over now and I still marvel at this miracle given to us by our ancestors – their DNA.

So, regardless of where you fall on the goals and matching confidence spectrum in terms of genetic genealogy, keep encouraging others to test and keep reaching out and sharing – because it takes a village to recreate an ancestor!  No one can do it alone, and the more people who test and share, the better all of our chances become to achieve whatever genetic genealogy goals we have.

Ethnicity Testing and Results

I have written repeatedly about ethnicity results as part of the autosomal test offerings of the major DNA testing companies, but I still receive lots of questions about which ethnicity test is best, which is the most accurate, etc.  Take a look at “Ethnicity Percentages – Second Generation Report Card” for a detailed analysis and comparison.

First, let’s clarify which testing companies we are talking about.  They are:

Let’s make this answer unmistakable.

  1. Some of the companies are somewhat better than others relative to ethnicity – but not a lot.
  2. These tests are reasonably reliable when it comes to a continent level test – meaning African, European, Asian and sometimes, Native American.
  3. These tests are great at detecting ancestry over 25% – but if you know who your grandparents are – you already have that information.
  4. The usefulness of these tests for accurately providing ethnicity information diminishes as the percentage of that minority admixture declines.  Said another way – as your percentage of a particular ethnicity decreases, so does the testing companies’ ability to find it.
  5. Intra-continental results, meaning within Europe, for example, are speculative, at best.  Do not expect them to align with your known genealogy.  They likely won’t – and if they do at one vendor – they won’t at others.  Which one is “right”?  Who knows – maybe all of them when you consider population movement, migration and assimilation.
  6. As the vendors add to and improve their data bases, reference populations and analysis tools, your results change. I discussed how vendors determine your ethnicity percentages in the article, “Determining Ethnicity Percentages.”
  7. Sometimes unexpected results, especially continent level results, are a factor of ancient population mixing and migrations, not recent admixture – and it’s impossible to tell the difference. For example, the Celts, from the Germanic area of Europe also settled in the British Isles. Attila the Hun and his army, from Asia, invaded and settled in what is today, Germany, as well as other parts of Eastern Europe.
  8. Ethnicity tests are unreliable in consistently detecting minority admixture. Minority in this context means a small amount, generally less than 5%.  It does not refer to any specific ethnicity. Having said that, there are very few reference data base entries for Native American populations.  Most are from from Canada and South America.

In the context of ethnicity, what does unreliable mean?

Unreliable means that the results are not consistent and often not reproducible across platforms, especially in terms of minority admixture.  For example, a German/Hungarian family member shows Native American admixture at low percentages, around 3%, at some, but not all, vendors.  His European family history does not reflect Native heritage and in fact, precludes it.  However, his results likely reflect Native American from a common underlying ancestral population, the Yamnaya, between the Asian people who settled Hungary and parts of Germany and also contributed to the Native American population.

Unreliable can also mean that different vendors, measuring different parts of your DNA, can assign results to different regions.  For example, if you carry Celtic ancestry, would you be surprised to see Germanic results and think they are “wrong?”  Speaking of Celts, they didn’t just stay put in one region within Europe either.  And who were the Celts and where did they ‘come from’ before they were Celts.  All of this current and ancient admixture is carried in your DNA.  Teasing it out and the meaning it carries is the challenge.

Unreliable may also mean that the tests often do not reflect what is “known” in terms of family history.  I put the word “known” in quotes here, because oral history does not constitute “known” and it’s certainly not proof.  For the most part, documented genealogy does constitute “known” but you can never “know” about an undocumented adoption, also referred to as a “nonparental event” or NPE.  Yes, that’s when one or both parents are not who you think they are based on traditional information.  With the advent of DNA testing, NPEs can, in some instances, be discovered.

So, the end result is that you receive very interesting information about your genetic history that often does not correlate with what you expected – and you are left scratching your head.

However, in some cases, if you’re looking for something specific – like a small amount of Native American or African ancestry, you, indeed, can confirm it through your DNA – and can confirm your family history.  One thing is for sure, if you don’t test, you will never know.

Minority Admixture

Let’s take a look at how ethnicity estimates work relative to minority admixture.

In terms of minority admixture, I’m referring to admixture that is several generations back in your tree.  It’s often revealed in oral history, but unproven, and people turn to genetic genealogy to prove those stories.

In my case, I have several documented Native American lines and a few that are not documented.  All of these results are too far back in time, the 1600s and 1700s, to realistically be “found” in autosomal admixture tests consistently.  I also have a small amount of African admixture.  I know which line this comes from, but I don’t know which ancestor, exactly.  I have worked through these small percentages systematically and documented the process in the series titled, “The Autosomal Me.”  This is not an easy or quick process – and if quick and easy is the type of answer you’re seeking – then working further, beyond what the testing companies give you, with small amounts of admixture, is probably not for you.

Let’s look at what you can expect in terms of inheritance admixture.  You receive 50% of your DNA from each parent, and so forth, until eventually you receive very little DNA (or none) from your ancestors from many generations back in your tree.

Ethnicity DNA table

Let’s put this in perspective.  The first US census was taken in 1790, so your ancestors born in 1770 should be included in the 1790 census, probably as a child, and in following censuses as an adult.  You carry less than 1% of this ancestor’s DNA.

The first detailed census listing all family members was taken in 1850, so most of your ancestors that contributed more than 1% of your DNA would be found on that or subsequent detailed census forms.

These are often not the “mysterious” ancestors that we seek.  These ancestors, whose DNA we receive in amounts over 1%, are the ones we can more easily track through traditional means.

The reason the column of DNA percentages is labeled “approximate” is because, other than your parents, you don’t receive exactly half of your ancestor’s DNA.  DNA is not divided exactly in half and passed on to subsequence generations, except for what you receive from your parents.  Therefore, you can have more or less of any one ancestor’s individual DNA that would be predicted by the chart, above.  Eventually, as you continue to move further out in your tree, you may carry none of a specific ancestor’s DNA or it is in such small pieces that it is not detected by autosomal DNA testing.

The Vendors

At least two of the three major vendors have made changes of some sort this year in their calculations or underlying data bases.  Generally, they don’t tell us, and we discover the change by noticing a difference when we look at our results.

Historically, Ancestry has been the worst, with widely diverging estimates, especially within continents.  However, their current version is picking up both my Native and African.  However, with their history of inconsistency and wildly inaccurate results, it’s hard to have much confidence, even when the current results seem more reasonable and in line with other vendors.  I’ve adopted a reserved “wait and see” position with Ancestry relative to ethnicity.

Family Tree DNA’s Family Finder product is in the middle with consistent results, but they don’t report less than 1% admixture which is often where those distant ancestors’ minority ethnicity would be found, if at all.  However, Family Tree DNA does provide Y and mitochondrial mapping comparisons, and ethnicity comparisons to your matches that are not provided by other vendors.

Ethnicity DNA matches

In this view, you can see the matching ethnicity percentages for those whom you match autosomally.

23andMe is currently best in terms of minority ethnicity detection, in part, because they report amounts less than 1%, have a speculative view, which is preferred by most genetic genealogists and because they paint your ethnicity on your chromosomes, shown below.  You can see that both chromosome 1 and 2 show Native segments.

Ethnicity 23andMe chromosome

So, looking at minority admixture only – let’s take a look at today’s vendor results as compared to the same vendors in May 2014.

Ethnicity 2014-2015 compare

The Rest of the Story

Keep in mind, we’re only discussing ethnicity here – and there is a lot more to autosomal DNA testing than ethnicity – for example – matching to cousins, tools, such as a chromosome browser (or lack thereof), trees, ease of use and ability to contact your matches.  Please see “Autosomal DNA 2015 – Which Test is the Best?”  Unless ethnicity is absolutely the ONLY reason you are DNA testing, then you need to consider the rest of the story.

And speaking of the rest of the story, National Geographic has been pretty much omitted from this discussion because they have just announced a new upgrade, “Geno 2.0: Next Generation,” to their offering, which promises to be a better biogeographical tool.  I hope so – as National Geographic is in a unique position to evaluate populations with their focus on sample collection from what is left of unique and sometimes isolated populations.  We don’t have much information on the new product yet, and of course, no results because the new test won’t be released until in September, 2015.  So the jury is out on this one.  Stay tuned.

GedMatch – Not A Vendor, But a Great Toolbox

Finally, most people who are interested in ethnicity test at one (or all) of the companies, utilize the rest of the tools offered by that company, then download their results to www.gedmatch.com, a donation based site, and make use of the numerous contributed admixture tools there.

Ethnicity GedMatch

GedMatch offers lots of options and several tools that provide a wide range of focus.  For example, some tools are specifically written for European, African, Asian or even comparison against ancient DNA results.

Ethnicity ancient admixture

Conclusion

So what is the net-net of this discussion?

  1. There is a lot more to autosomal DNA testing than just ethnicity – so take everything into consideration.
  2. Ethnicity determination is still an infant and emerging field – with all vendors making relatively regular updates and changes. You cannot take minority results to the bank without additional and confirming research, often outside of genetic genealogy. However, mitochondrial or Y DNA testing, available only through Family Tree DNA, can positively confirm Native or minority ancestry in the lines available for testing. You can create a DNA Pedigree Chart to help identify or eliminate Native lines.
  3. If the ancestors you seek are more than a few generations removed, you may not carry enough of their ethnic DNA to be identified.
  4. Your “100% Cherokee” ancestor was likely already admixed – and so their descendants may carry even less Native DNA than anticipated.
  5. You cannot prove a negative using autosomal DNA (but you can with both Y and mitochondrial DNA). In other words, a negative autosomal ethnicity result alone, meaning no Native heritage, does NOT mean your ancestors were not Native. It MIGHT mean they weren’t Native. It also might mean that they were either very admixed or the Native ancestry is too far back in your tree to be found with today’s technology. Again, mitochondrial and Y DNA testing provide confirmed ancestry identification for the lines they represent. Y is the male paternal (surname) line and mitochondrial is the matrilineal line of both males and females – the mother’s, mother’s, mother’s line, on up the tree until you run out of mothers.
  6. It is very unlikely that you will be able to find your tribe, although it is occasionally possible. If a company says they can do this, take that claim with a very big grain of salt. Your internal neon warning sign should be flashing about now.
  7. If you’re considering purchasing an ethnicity test from a company other than the four I mentioned – well, just don’t.  Many use very obsolete technology and oversell what they can reliably provide.  They don’t have any better reference populations available to them than the major companies and Nat Geo, and let’s just say there are ways to “suggest” people are Native when they aren’t. Here are two examples of accidental ways people think they are Native or related – so just imagine what kind of damage could be done by a company that was intentionally providing “marginal” or misleading information to people who don’t have the experience to know that because they “match” someone who has a Native ancestor doesn’t mean they share that same Native ancestor – or any connection to that tribe. So, stay with the known companies if you’re going to engage in ethnicity testing. We may not like everything about the products offered by these companies, but we know and understand them.

My Recommendation

By all means, test.

Test with all three companies, 23andMe, Family Tree DNA and Ancestry – then download your results from either Family Tree DNA or Ancestry (who test more markers than 23andMe) to GedMatch and utilize their ethnicity tools.  When I’m looking for minority admixture, I tend to look for consistent trends – not just at results from any one vendor or source.

If you have already tested at Ancestry, or you tested at 23andMe on the V3 chip, prior to December 2013, you can download your raw data file to Family Tree DNA and pay just $39.  Family Tree DNA will process your raw data within a couple days and you will then see your myOrigins ethnicity results as interpreted by their software.  Of course, that’s in addition to having access to Family Tree DNA’s other autosomal features, functions and tools.  The transfer price of $39 is significantly less expensive than retesting.

Just understand that what you receive from these companies in terms of ethnicity is reflective of both contemporary and ancient admixture – from all of your ancestral lines.  This field is in its infancy – your results will change from time to time as we learn – and the only part of ethnicity that is cast in concrete is probably your majority ancestry which you can likely discern by looking in the mirror.  The rest – well – it’s a mystery and an adventure.  Welcome aboard to the miraculous mysterious journey of you, as viewed through the DNA of your ancestors!