Nine Years and Future Plans – Happy Blogiversary

Happy Blogiversary!

Yes, blogiversary is actually a real word for a blog’s birthday.

It’s DNAeXplained’s 9th birthday and I nearly forgot.

How could I???

What do you get a blog for its birthday anyway?

History and Changes

I remember the 4th of July holiday back in 2012 – although that seems like about two lifetimes ago now.

I was trying to learn how to use WordPress, my chosen blogging platform, and to become familiar enough with how everything worked so I wouldn’t embarrass myself.

On July 11, 2012, I published my first very short blog article, just saying hello and inviting people to subscribe and come along for the ride. And what a ride it has been as we begin our 10th year together.

I was explaining DNA topics so often that I figured if I wrote the answer once as an article with pictures and graphics, I could save myself (and lots of other people) a great deal of effort. I could just link my blog article and not have to retype everything.

Seemed like a great idea…right?

That worked then and still does, well…except for a couple of considerations:

  • Increasingly, people don’t seem to be interested in learning, just in receiving “an answer.” In other words, they often don’t bother to actually read articles. Or, in one woman’s words, “You didn’t answer my question. You just gave me something to read.” Sigh.

I’m mortified when I read some of the answers provided to people on social media – especially realizing that the person asking the question has no idea how to discern between an accurate answer and something else.

Doubt that? Try an experiment. Select any topic where you are an expert. Go to a social media group about that topic. Review the questions and resulting answers. Bash head on table.

  • Things change over time. We’ve learned a WHOLE LOT since 2012 in the genetic genealogy space. Every vendor platform has changed multiple times. New products have been introduced which obsolete older products and their articles. Some vendors and tools have disappeared and new ones have emerged. DNA has become a household word.

The Unexpected

Blogging has resulted in a few things I didn’t anticipate:

  • Sometimes, bloggers becoming targets. This is especially painful when it comes from within the community. Mostly, I refuse to give any of that oxygen. Their hatefulness is really not about me. Still, it was shocking and painful at first.
  • I receive between 500 and 1000 emails every single day. Yes, EVERY SINGLE DAY. That’s in addition to blog comments and social media communications. It’s overwhelming, even after deleting obvious spam. This also means that I don’t catch up, am chronically behind, and never really get a break. (This is a big reason why bloggers burn out.)

Communications

Communications fall into several categories:

  • Some emails/communications are people reaching out about my (our) ancestors. Obviously, those emails are always welcome and often make my day. 😊
  • Some people are saying thank you or offering suggestions that I sometimes utilize as future article topics. I appreciate those too.
  • Some people comment or participate in a discussion. Those just require a quick approval and I’m always glad to see people engaging.
  • Some people inquire about consulting services. At this point, I don’t accept private clients and no longer write Y and mitochondrial DNA reports for people. That could change in the future, but right now, I simply refer people to others who I know are qualified based on the topic of the request.
  • Many emails are from someone who wants something. For example – “I’d like to write a guest post for your blog.” Translated – “I’d like to use the platform you’ve developed over the past 9 years, and your followers, to benefit myself.” The answer is a resounding “NO”! Truthfully, I no longer respond to these. The delete key suffices. But I still have to read them.

Unchanged!

Some things have NOT changed:

  • I still love to explain and educate about the marriage of DNA and genealogy.
  • I still love to chase my ancestors.
  • No ad policy – you won’t see embedded ads in my articles. When bloggers allow ads, the ads provide revenue, but the blogger also risks a substandard product being displayed to their subscribers and visitors. There are sometimes relevant, curated, affiliate links within my articles for products that I use, but they never appear as an ad. I am not criticizing bloggers who do adopt the ad model – simply explaining to you why I don’t. And yes, I know I’m foregoing revenue with this decision, but I feel it’s the right thing to do.

Improvements

Almost every aspect of genetic genealogy has improved over the past 9 years:

  • Autosomal test matches have increased and are often of a higher quality as a result of millions of people having tested at the four major vendors: FamilyTreeDNA, MyHeritage, 23andMe, and Ancestry. We probably had an industry-wide total of about 2 million testers in 2012, and now I’d wager we have more than 40 million. More and better matches for everyone!
  • Y DNA testing (for men only) has improved by leaps and bounds, with a combination of SNP testing with the Big Y-700 test and STR testing being able to refine relationships at a very granular level. This paternal line test plus matching is only available at FamilyTreeDNA.
  • Mitochondrial DNA test numbers lag behind other tests, but the Million Mito Project will encourage more testers and refine mitochondrial match results in a meaningful way as well. We simply need more testers, just like we did with autosomal back in 2012. The mitochondrial DNA full sequence test is available at FamilyTreeDNA.
  • Every major DNA vendor has added state-of-the-art, innovative tools over the years.
  • Every major DNA vendor has been sold/acquired and we’ve all managed to survive, despite teeth-gnashing and predictions of doom.
  • FamilyTreeDNA and MyHeritage both accept transfers/uploads from other vendors, making swimming in all the genetic genealogy pools easier and more affordable for consumers. Click here for step-by-step download/upload instructions.
  • Public consciousness about DNA testing for genealogy, health, and traits has increased dramatically. We see TV and social media ads regularly today.
  • Techniques like triangulation, clustering, and various flavors of tree-matching have revolutionized what can be accomplished with genetic genealogy – both confirming and discovering ancestors. Newly discovered new cousins may be researching the same ancestral lines.
  • People seeking the identity of parents or other close relatives routinely solve those puzzles today, thanks to the millions of people who have tested. That was quite rare in 2012.
  • We are attracting a whole new savvy generation of testers who grew up with and understand technology.

The Future

What does the future hold for me and DNAeXplain? To be clear, DNAeXplain is the underlying business/website and DNAeXplained.com is the blog, but I often use them interchangeably since both URLs resolve to the same location today.

First and foremost, I don’t have any intention of stopping. I’m passionate about genetic genealogy, have been for 21 years now, and love to write articles and share with you. In fact, in the last few months, I’ve added the Y DNA Resources one-stop educational page as well as Mitochondrial DNA.

I’ve had the opportunity to get to know and meet so many blog followers. Some of you turned out to be cousins. Of course, we’re all related eventually, someplace back in time.

I look forward to in-person conferences again, but don’t worry – I’ll continue researching, writing, and covering topics in this amazing industry.

Cousin Bait

I never considered that I might find cousins through blogging but that’s worked marvelously – both when I publish the articles and later too.

On a personal level, my 52 Ancestors series has been extremely successful for a couple of reasons:

  • Each article forces me to verify and update my research.
  • The articles act as cousin bait. Not only are they findable using Google, or the blog search feature, I post the article links at WikiTree, MyHeritage, and Ancestry on the profile card for that ancestor. I need to do the same at FamilySearch as well.

Upcoming Book

I’m very excited to be able to share with you that I’m completing a manuscript.

I can’t discuss more about the book just yet, but I should have the draft to the editor shortly.

Chapters

The book of our life is written in chapters, just like the lives of our ancestors were.

I’m beginning a new chapter shortly – a move to someplace where it’s warmer.

I don’t know where just yet (I think a villa in Tuscany is probably out of the question), nor exactly when.

What I do know is that I’ve accumulated a HUGE amount of stuff over the decades that I’ve lived in this house. My mother passed away, so I have her things too.

Genealogy books are heavy and require lots of space.

So does paper, as in file cabinets and boxes of documents.

As most of you know, I’m a quilter – and fabric is heavy and requires space too.

Movers charge by some combination of distance, how much space your possessions require in their truck, hourly fees, weight and prep required.

Let’s just say that preparing to move is proving challenging!

Why am I telling you this?

Changes

Over the period of 9 years, I’ve written and published 1442 articles. That equates to one article about every 2.25 days.

That’s even hard for me to believe.

My goal has always been to publish:

  • One technical article during the week. Topics include things like DNA concepts, sales, new features, and various “how-to” articles.
  • One 52-Ancestors article each weekend.

I’ve exceeded that goal.

Needless to say, both of those types of articles take hours-to-days to research, compose and publish.

During these next few months as I’m migrating from one part of the country to another, and one chapter of my life to the next, I may miss my goal of publishing the 52-ancestors article each week. I’ve already compiled the easy ones given that the next one will be number 338.

Those articles require a significant amount of research and right now, I need to focus on reducing the file cabinets and bookshelves of stuff. And of course, like any genealogist, I have to sift through everything one paper at a time to be sure I’m not disposing of something I’ll regret – like, you know, my high school report card. 😊

It’s very difficult to not run down every rabbit hole! Hey, what is my friend in that picture beside me at the football game up to now? Oops, an obituary. What about my co-worker that I had a crush on? What do they look like? Who was sitting at the picnic table in that family reunion picture anyway? I don’t remember them. You get the drift.

The message for you here is “don’t worry.” Some of those emails and messages are from people who care about me and are checking in to be sure nothing is wrong when I miss publishing an article on my long-established schedule. I really appreciate their concern and have been incredibly fortunate to connect with so many wonderful people.

A year from now, we’ll be celebrating DNAeXplain’s 10-year birthday. I hope to be happily settled and writing prolifically again in a new office in a yet-to-be-selected distant location, experiencing an exciting new chapter of life. Maybe I’ll just take you along on that adventure through the power of storytelling! Don’t we wish our ancestors had done that?

It’s going to be a very, very interesting year!!!

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

FamilyTreeDNA Relaunch – New Feature Overview

The brand-new FamilyTreeDNA website is live!

I’m very pleased with the investment that FamilyTreeDNA has made in their genealogy platform and tools. This isn’t just a redesign, it’s more of a relaunch.

I spoke with Dr. Lior Rauchberger, CEO of myDNA, the parent company of FamilyTreeDNA briefly yesterday. He’s excited too and said:

“The new features and enhancements we are releasing in July are the first round of updates in our exciting product roadmap. FamilyTreeDNA will continue to invest heavily in the advancement of genetic genealogy.”

In other words, this is just the beginning.

In case you were wondering, all those features everyone asked for – Lior listened.

Lior said earlier in 2021 that he was going to do exactly this and he’s proven true to his word, with this release coming just half a year after he took the helm. Obviously, he hit the ground running.

A few months ago, Lior said that his initial FamilyTreeDNA focus was going to be on infrastructure, stability, and focusing on the customer experience. In other words, creating a foundation to build on.

The new features, improvements, and changes are massive and certainly welcome.

I’ll be covering the new features in a series of articles, but in this introductory article, I’m providing an overview so you can use it as a guide to understand and navigate this new release.

Change is Challenging

I need to say something here.

Change is hard. In fact, change is the most difficult challenge for humans. We want improvements, yet we hate it when the furniture is rearranged in our “room.” However, we can’t have one without the other.

So, take a deep breath, and let’s view this as a great new adventure. These changes and tools will provide us with a new foundation and new clues. Think of this as finding long-lost documents in an archive about your ancestors. If someone told me that there is a potential for discovering the surname of one of my elusive female ancestors in an undiscovered chest in a remote library, trust me, I’d be all over it – regardless of where it was or how much effort I had to expend to get there. In this case, I can sit right here in front of my computer and dig for treasure.

We just need to learn to navigate the new landscape in a virtual room. What a gift!

Let’s start with the first thing you’ll see – the main page when you sign in.

Redesigned Main Page

The FamilyTreeDNA main page has changed. To begin with, the text is darker and the font is larger across the entire platform. OMG, thank you!!!

The main page has been flipped left to right, with results on the left now. Projects, surveys, and other information, along with haplogroup badges are on the right. Have you answered any surveys? I don’t think I even noticed them before. (My bad!)

Click any image to enlarge.

The top tabs have changed too. The words myTree and myProjects are now gone, and descriptive tabs have replaced those. The only “my” thing remaining is myOrigins. This change surprises me with myDNA being the owner.

The Results & Tools tab at the top shows the product dropdowns.

The most popular tabs are shown individually under each product, with additional features being grouped under “See More.”

Every product now has a “See More” link where less frequently used widgets will be found, including the raw data downloads. This is the Y DNA “See More” dropdown by way of example.

You can see the green Updated badge on the Family Finder Matches tab. I don’t know if that badge will always appear when customers have new matches, or if it’s signaling that all customers have updated Family Finder Matches now.

We’ll talk about matches in the Family Finder section.

The Family Finder “See More” tab includes the Matrix, ancientOrigins, and the raw data file download.

The mitochondrial DNA section, titled Maternal Line Ancestry, mtDNA Results and Tools includes several widgets grouped under the “See More” tab.

Additional Tests and Tools

The Additional Tests and Tools area includes a link to your Family Tree (please do upload or create one,) Public Haplotrees, and Advanced Matches.

Public haplotrees are free-to-the-public Y and mitochondrial DNA trees that include locations. They are also easily available to FamilyTreeDNA customers here.

Please note that you access both types of trees from one location after clicking the Public Haplotrees page. The tree defaults to Y-DNA, but just click on mtDNA to view mitochondrial haplogroups and locations. Both trees are great resources because they show the location flags of the earliest known ancestors of the testers within each haplogroup.

Advanced Matches used to be available from the menu within each test type, but since advanced matching includes all three types of tests, it’s now located under the Additional Tests and Tools banner. Don’t forget about Advanced Matches – it’s really quite useful to determine if someone matches you on multiple types of tests and/or within specific projects.

Hey, look – I found a tooltip. Just mouse over the text and tabs on various pages to see where tooltips have been added.

Help and Help Center

The new Help Center is debuting in this release. The former Learning Center is transitioning to the Help Center with new, updated content.

Here’s an example of the new easy-to-navigate format. There’s a search function too.

Each individual page, test type, and section on your personal home page has a “Helpful Information” button.

On the main page, at the top right, you’ll see a new Help button.

Did you see that Submit Feedback link?

If you click on the Help Center, you’ll be greeted with context-sensitive help.

I clicked through from the dashboard, so that’s what I’m seeing. However, other available topics are shown at left.

I clicked on both of the links shown and the content has been updated with the new layout and features. No wonder they launched a new Help Center!

Account Settings

Account settings are still found in the same place, and those pages don’t appear to have changed. However, please keep in mind that some settings make take up to 24 hours to take effect.

Family Finder Rematching

Before we look at what has changed on your Family Finder pages, let’s talk about what happened behind the scenes.

FamilyTreeDNA has been offering the Family Finder test for 11 years, one of two very early companies to enter that marketspace. We’ve learned so much since then, not only about DNA itself, but about genetic genealogy, matching, triangulation, population genetics, how to use these tools, and more.

In order to make improvements, FamilyTreeDNA changing the match criteria which necessitated rematching everyone to everyone else.

If you have a technology background of any type, you’ll immediately realize that this is a massive, expensive undertaking requiring vast computational resources. Not only that, but the rematching has to be done in tandem with new kits coming in, coordinated for all customers, and rolled out at once. Based on new matches and features, the user interface needed to be changed too, at the same time.

Sounds like a huge headache, right?

Why would a company ever decide to undertake that, especially when there is no revenue for doing so? The answer is to make functionality and accuracy better for their customers. Think of this as a new bedrock foundation for the future.

FamilyTreeDNA has made computational changes and implemented several features that require rematching:

  • Improved matching accuracy, in particular for people in highly endogamous populations. People in this category have thousands of matches that occur simply because they share multiple distant ancestors from within the same population. That combination of multiple common ancestors makes their current match relationships appear to be closer in time than they are. In order to change matching algorithms, FamilyTreeDNA had to rewrite their matching software and then run matching all over to enable everyone to receive new, updated match results.
  • FamilyTreeDNA has removed segments below 6 cM following sustained feedback from the genealogical community.
  • X matching has changed as well and no longer includes anyone as an X match below 6 cM.
  • Family Matching, meaning paternal, maternal and both “bucketing” uses triangulation behind the scenes. That code also had to be updated.
  • Older transfer kits used to receive only closer matches because imputation was not in place when the original transfer/upload took place. All older kits have been imputed now and matched with the entire database, which is part of why you may have more matches.
  • Relationship range calculations have changed, based on the removal of microsegments, new matching methodology and rematching results.
  • FamilyTreeDNA moved to hg37, known as Build 37 of the human genome. In layman’s terms, as scientists learn about our DNA, the human map of DNA changes and shifts slightly. The boundary lines change somewhat. Versions are standardized so all researchers can use the same base map or yardstick. In some cases, early genetic genealogy implementers are penalized because they will eventually have to rematch their entire database when they upgrade to a new build version, while vendors who came to the party later won’t have to bear that internal expense.

As you can see, almost every aspect of matching has changed, so everyone was rematched against the entire database. You’ll see new results. Some matches may be gone, especially distant matches or if you’re a member of an endogamous population.

You’ll likely have new matches due to older transfer kits being imputed to full compatibility. Your matches should be more accurate too, which makes everyone happy.

I understand a white paper is being written that will provide more information about the new matching algorithms.

Ok, now let’s check out the new Family Finder Matches page.

Family Finder Matches

FamilyTreeDNA didn’t just rearrange the furniture – there’s a LOT of new content.

First, a note. You’ll see “Family Finder” in some places, and “Autosomal DNA” in other places. That’s one and the same at FamilyTreeDNA. The Family Finder test is their autosomal test, named separately because they also have Y DNA and mitochondrial DNA tests.

When you click on Family Finder matches for the first time, you will assuredly notice one thing and will probably notice a second.

First, you’ll see a little tour that explains how to use the various new tools.

Secondly, you will probably see the “Generating Matches” notice for a few seconds to a few minutes while your match list is generated, especially if the site is busy because lots of people are signing on. I saw this message for maybe a minute or two before my match list filled.

This should be a slight delay, but with so many people signing in right now, my second kit took longer. If you receive a message that says you have no matches, just refresh your page. If you had matches before, you DO have matches now.

While working with the new interface this morning, I’ve found that refreshing the screen is the key to solving issues.

My kits that have a few thousand matches loaded Family Matching (bucketing) immediately, but this (Jewish) kit that has around 30,000 matches received this informational message instead. FamilyTreeDNA has removed the little spinning icon. If you mouse over the information, you’ll see the following message:

This isn’t a time estimate. Everyone receives the same message. The message didn’t even last long enough for me to get a screenshot on the first kit that received this message. The results completed within a minute or so. The Family Matching buckets will load as soon as the parental matching is ready.

These delays should only happen the first time, or if someone has a lot of matches that they haven’t yet viewed. Once you’ve signed in, your matches are cached, a technique that improves performance, so the loading should be speedy, or at least speedier, during the second and subsequent visits.

Of course, right now, all customers have an updated match list, so there’s something new for everyone.

Getting Help

Want to see that tutorial again?

Click on that little Help box in the upper right-hand corner. You can view the Tutorial, look at Quick References that explain what’s on this page, visit the Help Center or Submit Feedback.

Two Family Finder Matches Views – Detail and Table

The first thing you’ll notice is that there are two views – Detail View and Table View. The default is Detail View.

Take a minute to get used to the new page.

Detail View – Filter Matches by Match Type

I was pleased to see new filter buttons, located in several places on the page.

The Matches filter at left allows you to display only specific relationship levels, including X-Matches which can be important in narrowing matches to a specific subset of ancestors.

You can display only matches that fall within certain relationship ranges. Note the new “Remote Relative” that was previously called speculative.

Parental Matching and Filtering by Test Type or Trees

All of your matches are displayed by default, of course, but you can click on Paternal, Maternal or Both, like before to view only matches in those buckets. In order for the Family Matching bucketing feature to be enabled, you must attach known relatives’ DNA matches to their proper place in your tree.

Please note that I needed to refresh the page a couple of times to get my parental matches to load the first time. I refreshed a couple of times to be sure that all of my bucketed matches loaded. This should be a first-time loading blip.

There’s a new filter button to the right of the bucketing tabs.

You can now filter by who has trees and who has taken which kinds of tests.

You can apply multiple filters at the same time to further narrow your matches.

Important – Clearing Filters

It’s easy to forget you have a filter enabled. This section is important, in part because Clear Filter is difficult to find.

The clear filter button does NOT appear until you’ve selected a filter. However, after applying that filter, to clear it and RESET THE MATCHES to unfiltered, you need to click on the “Clear Filter” button which is located at the top of the filter selections, and then click “Apply” at the bottom of the menu. I looked for “clear filter” forever before finding it here.

You’re welcome😊

Enhanced Search

Thank goodness, the search functionality has been enhanced and simplified too. Full name search works, both here and on the Y DNA search page.

If you type in a surname without selecting any search filters, you’ll receive a list of anyone with that word in their name, or in their list of ancestral surnames. This does NOT include surnames in their tree if they have not added those surnames to their list of ancestral surnames.

Notice that your number of total matches and bucketed people will change based on the results of this search and any filters you have applied.

I entered Estes in the search box, with no filters. You can see that I have a total of 46 matches that contain Estes in one way or another, and how they are bucketed.

Estes is my birth surname. I noticed that three people with Estes in their information are bucketed maternally. This is the perfect example of why you can’t assume a genetic relationship based on only a surname. Those three people’s DNA matches me on my mother’s side. And yes, I confirmed that they matched my mother too on that same segment or segments.

Search Filters

You can also filter by haplogroup. This is very specific. If you select mitochondrial haplogroup J, you will only receive Family Finder matches that have haplogroup J, NOT J1 or J1c or J plus anything.

If you’re looking for your own haplogroup, you’ll need to type your full haplogroup in the search box and select mtDNA Haplogroup in the search filter dropdown.

Resetting Search Results

To dismiss search results, click on the little X. It’s easy to forget that you have initiated a search, so I need to remember to dismiss searches after I’m finished with each one.

Export Matches

The “Export CSV” button either downloads your entire match list, or the list of filtered matches currently selected. This is not your segment information, but a list of matches and related information such as which side they are bucketed on, if any, notes you’ve made, and more.

Your segment information is available for download on the chromosome browser.

Sort By

The Sort By button facilitates sorting your matches versus filtering your matches. Filters ONLY display the items requested, while sorts display all of the items requested, sorting them in a particular manner.

You can sort in any number of ways. The default is Relationship Range followed by Shared DNA.

Your Matches – Detail View

A lot has changed, but after you get used to the new interface, it makes more sense and there are a lot more options available which means increased flexibility. Remember, you can click to enlarge any of these images.

To begin with, you can see the haplogroups of your matches if they have taken a Y or mitochondrial DNA test. If you match someone, you’ll see a little check in the haplogroup box. I’m not clear whether this means you’re a haplogroup match or that person is on your match list.

To select people to compare in the chromosome browser, you simply check the little square box to the left of their photo and the chromosome browser box pops up at the bottom of the page. We’ll review the chromosome browser in a minute.

The new Relationship Range prediction is displayed, based on new calculations with segments below 6 cM removed. The linked relationship is displayed below the range.

A linked relationship occurs when you link that person to their proper place in your tree. If you have no linked relationship, you’ll see a link to “assign relationship” which takes you to your tree to link this person if you know how you are related.

The segments below 6 cM are gone from the Shared DNA total and X matches are only shown if they are 6 cM or above.

In Common With and Not In Common With

In Common With and Not In Common With is the little two-person icon at the right.

Just click on the little person icon, then select “In Common With” to view your shared matches between you, that match, and other people. The person you are viewing matches in common with is highlighted at the top of the page, with your common matches below.

You can stack filters now. In this example, I selected my cousin, Don, to see our common matches. I added the search filter of the surname Ferverda, my mother’s maiden name. She is deceased and I manage her kit. You can see that my cousin Don and I have 5 total common matches – four maternal and one both, meaning one person matches me on both my maternal and paternal lines.

It’s great news that now Cousin Don pops up in the chromosome browser box at the bottom, enabling easy confusion-free chromosome segment comparisons directly from the In Common With match page. I love this!!!.

All I have to do now is click on other people and then on Compare Relationship which pushes these matches through to the chromosome browser. This is SOOOO convenient.

You’ll see a new tree icon at right on each match. A dark tree means there’s content and a light tree means this person does not have a tree. Remember, you can filter by trees with content using the filter button beside “Both”.

Your notes are shown at far right. Any person with a note is dark grey and no note is white.

If you’re looking for the email contact information, click on your match’s name to view their placard which also includes more detailed ancestral surname information.

Family Finder – Table View

The table view is very similar to the Detail View. The layout is a bit different with more matches visible in the same space.

This view has lots of tooltips on the column heading bar! Tooltips are great for everyone, but especially for people just beginning to find their way in the genetic genealogy world.

I’ll have to experiment a bit to figure out which view I prefer. I’d like to be able to set my own default for whichever view I want as my default. In fact, I think I’ll submit that in the “Submit Feedback” link. For every suggestion, I’m going to find something really positive to say. This was an immense overhaul.

Chromosome Browser

Let’s look at the chromosome Browser.

You can arrive at the Chromosome Browser by selecting people on your match page, or by selecting the Chromosome Browser under the Results and Tools link.

Everything is pretty much the same on the chromosome browser, except the default view is now 6 cM and the smaller segments are gone. You can also choose to view only segments above 10 cM.

If you have people selected in the chromosome browser and click on Download Segments in the upper right-hand corner, it downloads the segments of only the people currently selected.

You can “Clear All” and then click on Download All Segments which downloads your entire segment file. To download all segments, you need to have no people selected for comparison.

The contents of this file are greatly reduced as it now contains only the segments 6 cM and above.

Family Tree

No, the family tree has not changed, and yes, it needs to, desperately. Trust me, the management team is aware and I suspect one of the improvements, hopefully sooner than later, will be an improved tree experience.

Y DNA

The Y DNA page has received an update too, adding both a Detail View and a Table View with the same basic functionality as the Family Finder matching above. If you are reading this article for Y DNA only, please read the Family Finder section to understand the new layout and features.

Like previously, the match comparison begins at the 111 marker level.

However, there’s a BIG difference. If there are no matches at this level, YOU NEED TO CLICK THE NEXT TAB. You can easily see that this person has matches at the 67 level and below, but the system no longer “counts down” through the various levels until it either finds a level with a match or reaches 12 markers.

If you’re used to the old interface, it’s easy to think you’re at the final destination of 12 markers with no matches when you’re still at 111.

Y DNA Detail View

The Y-DNA Detail and Table views features are the same as Family Finder and are described in that section.

The new format is quite different. One improvement is that the Paternal Country of Origin is now displayed, along with a flag. How cool is that!

The Paternal Earliest Known Ancestor and Match Date are at far right. Note that match dates have been reset to the rerun date. At this point, FamilyTreeDNA is evaluating the possibility of restoring the original match date. Regardless, you’ll be able to filter for match dates when new matches arrive.

Please check to be sure you have your Country of Origin, Earliest Known Ancestor, and mapped location completed and up to date.

Earliest Known Ancestor

If you haven’t completed your Earliest Known Ancestor (EKA) information, now’s the perfect time. It’s easy, so let’s do it before you forget.

Click on the Account Settings gear beneath your name in the right-hand upper corner. Click on Genealogy, then on Earliest Known Ancestors and complete the information in the red boxes.

  • Direct paternal line means your father’s father’s father’s line – as far up through all fathers as you can reach. This is your Y DNA lineage, but females should complete this information on general principles.
  • Direct maternal line means your mother’s mother’s mother’s line – as far up through all mothers that you can reach. This is your mitochondrial DNA lineage, so relevant for both males and females.

Completing all of the information, including the location, will help you and your matches as well when using the Matches Map.

Be sure to click Save when you’re finished.

Y DNA Filters

Y DNA has more filter options than autosomal.

The Y DNA filter, located to the right of the 12 Markers tab allows testers to filter by:

  • Genetic distance, meaning how many mutations difference between you and your matches
  • Groups meaning group projects that the tester has joined
  • Tree status
  • Match date
  • Level of test taken

If none of your matches have taken the 111 marker test or you don’t match anyone at that level, that test won’t show up on your list.

Y DNA Table View

As with Family Finder, the Table View is more condensed and additional features are available on the right side of each match. For details, please review the Family Finder section.

If you’re looking for the old Y DNA TiP report, it’s now at the far right of each match.

The actual calculator hasn’t changed yet. I know people were hoping for the new Y DNA aging in this release, but that’s yet to follow.

Other Pages

Other pages like the Big Y and Mitochondrial DNA did not receive new features or functionality in this release, but do sport new user-friendly tooltips.

I lost track, but I counted over 100 tooltips added across the platform, and this is just the beginning.

There are probably more new features and functionality that I haven’t stumbled across just yet.

And yes, we are going to find a few bugs. That’s inevitable with something this large. Please report anything you find to FamilyTreeDNA.

Oh wait – I almost forgot…

New Videos

I understand that there are in the ballpark of 50 new videos that are being added to the new Help Center, either today or very shortly.

When I find out more, I’ll write an article about what videos are available and where to find them. People learn in various ways. Videos are often requested and will be a popular addition. I considered making videos, but that’s almost impossible for anyone besides the vendor because the names on screens either need to be “fake” or the screen needs to be blurred.

So hurray – very glad to hear these are imminent!

Stay Tuned

Stay tuned for new developments. As Lior said, FamilyTreeDNA is investing heavily in genetic genealogy and there’s more to come.

My Mom used to say that the “proof is in the pudding.” I’d say the myDNA/FamilyTreeDNA leadership team has passed this initial test with flying colors.

Of course, there’s more to do, but I’m definitely grateful for this lovely pudding. Thank you – thank you!

I can’t wait to get started and see what new gems await.

Take a Look!

Sign in and take a look for yourself.

Do you have more matches?

Are your matches more accurate?

How about predicted relationships?

How has this new release affected you?

What do you like the best?

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

Heads Up – Great Changes Coming at FamilyTreeDNA

This should be subtitled “Confessions of a Squeaky Wheel.”

Yes, I’ve been incessantly squeaky for a long time now, and it looks for all the world like this nagging, er, squeaking has worked.

Just a few minutes ago, this email arrived from FamilyTreeDNA, addressed to project administrators.

There’s at least one thing that’s time-sensitive, so be sure to read this today.

You may have been one of the FamilyTreeDNA customers who received one of two surveys a few weeks ago, after myDNA merged with FamilyTreeDNA. FamilyTreeDNA asked for feedback about what customers would like to see.

At that time, there was a raft of unfounded rumors that myDNA wasn’t committed to genealogy.

That was wrong, dead wrong. Couldn’t be further from the truth, and that’s not just extrapolated from this email. It’s a function of being that squeaky wheel. Based on this, FamilyTreeDNA obviously listened.

This is certainly welcome news!

That list of things we’ve been asking for…well, here you go.

Increased matches for many, along with improved matches. Did you see that?

There’s a lot here. It’s no wonder the matches page has been redesigned with all these new features.

It looks like the Y DNA page has been redesigned for the same reason. No mention of mitochondrial DNA though. Maybe that’s coming soon.

Thank goodness – a new Help Center.

And VIDEOs too!!!

Yes!!!

Ok, who loves that “Houston we have a problem” message? No one with their hand up? Me either.

However, I’ve already seen an improvement over the past few weeks, so maybe this has been an ongoing behind-the-scenes process.

And tooltips too!

For those who don’t know, a tooltip is a little information box with a couple of sentences that you can just mouse over. For example, a good place for a tooltip would be on the column headers explaining what that column means.

Ok, here’s the time-sensitive part.

I know FamilyTreeDNA said that they had closed the National Geographic Genographic transfer portal a year ago, but clearly they left it open as a courtesy.

However, with all these changes, it’s going away for good, now.

If you don’t transfer your Nat Geo Genographic kit before end of day on June 30th, you will not be able to do so. You can find instructions, here.

What’s Next?

We don’t know when these features will be released, exactly, but we do know it’s coming in July.

The fact that the Genographic transfer is gone as of June 30th suggests that at least some changes are imminent.

This cumulative list equates to a huge change, so I’d wager that it won’t be one big release, but a series of releases that build on each other.

I don’t know about you, but I can hardly wait. I’ll be writing about the new features as soon as they arrive.

I’m signing in now to record the number of matches I have so I can compare when the new features arrive. You can too, by clicking here.

If you have kits from other vendors that you’ve been meaning to upload to FamilyTreeDNA, now would be a great time to do that. You can find step-by-step instructions for downloading raw data files from each vendor and uploading them elsewhere, here.

Feel free to share this article with groups or anyone else who might be interested!

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

How Many Men Discover or Confirm Their Surname with Y DNA Testing?

About 15 years ago, Bennett Greenspan, founder of FamilyTreeDNA, at one of the early conferences said that about 30% of men who take a Y DNA test find a strong surname match. That number has increased now to nearly 100%, or “almost everyone.”

Exceptions

Of course, there are exceptions that fall into a number of categories:

  • Jewish families from regions where surnames weren’t adopted until in the 1800s.
  • Jewish families whose direct paternal line suffered dramatic losses during the Holocaust.
  • Dutch families who did not adopt surnames until Napoleon’s edict in 1811.
  • Cultures who have or recently had patronymic surnames that change every generation.
  • Men whose DNA is either extremely rare (and no relatives have tested) or are from under-sampled regions of the world.
  • Males whose paternal line may be recent immigrants and people in the homeland don’t participate in genealogy or don’t DNA test.
  • Males whose ancestors were enslaved. In the US, families adopted surnames after the Civil War ended slavery in the 1860s, so Y DNA testing plus autosomal is critically important to reunite these families. Please note that the Y DNA haplogroup, even an estimate provided with STR testing, will indicate whether the direct paternal lineage is European, African, Native American/Asian – all of which are found in the descendants of men who were enslaved. The Big Y-700 provides significantly more information along with placement on the haplotree.

I started writing Y DNA reports for clients in 2004 (although I no longer accept private clients) and at that time, often saw men with no matches. Today, a man with no matches is extremely unusual, and most have strong surname matches. As more men test, everyone will have more matches, of course, and the more we can learn about our ancestors.

What do matches reveal?

Matches Reveal

In essence, matches to other men with common surnames do one of two things:

  1. Confirm the surname lineage, at least to the common ancestor.
  2. Identify the surname where the tester is likely to find his ancestral roots.
  3. Provide perspective further back in time answering the question, “Where did I come from?”

Of course, this second point is crucial for males searching for the identity of their paternal lines.

While time has moved on, the number of testers in the database has dramatically increased, and almost everyone has relevant matches now – I still see the 30% metric oft-repeated. Let’s put this to the test and see what we find.

Setting Up the Experiment

I selected 20 men who have taken the Big Y test whose kits I manage or who were randomly selected from projects that I manage and who have given permission for their results to be published on public project pages.

I recorded results for the tester’s own or very similar surnames. Slightly different but recognizable spellings are counted as the same name.

I included matches at 12 markers, 111 markers, and the Big Y results. Men who purchase or upgrade to the Big Y-700 test will have all 111 STR panel markers included. Obviously, individual testers should check their results at every level.

Big Y testers actually receive 700+ STR markers, but can only easily filter for matches at 111 (or below), so that’s the number I used. Plus, males can purchase  37 and 111 panels without taking the Big Y test, so this comparative information will be valid for all Y DNA testers.

Click to enlarge image.

Additionally, I used the Advanced Matches feature to check for people who match someone on BOTH the Y DNA and their Family Finder autosomal test. Of course, this doesn’t guarantee that the reason they match on both tests is because of their common surname line – but it’s a hint and may be very useful, especially with closer Family Finder matches.

I intentionally included some men with recent European heritage who are unlikely to have matches simply because their families have been in colonial America since the 1600s or 1700s and their ancestor had a dozen sons who each had a dozen sons.

Why Did I Include 12 Marker Results?

You may wonder why I included 12 marker matches since that test is no longer sold individually and is the least granular. Truthfully, it’s too often deemed useless and overlooked.

Hear me out on this one😊

Many of the men who originally took the 12 and 25 marker tests, before the higher panels (37, 67, 111, and Big Y) were available are deceased now. Twenty years is a generation, and FamilyTreeDNA began testing the Y chromosome in the year 2000.

While these low marker tests alone are not conclusive, with additional information, such as trees, common ancestors, and other testers who match, they form pieces of evidence that can be invaluable. Some have also taken an autosomal test which can be especially important, given that they are another generation or two (or three) further back in time than the people testing today.

You won’t see these men as matches at 37, 67 or 111 markers, because they are deceased and can’t upgrade, but they may provide the nugget of information you need by matching at 12 or 25 markers. You’ll need to evaluate that match in light of other information. I’ll review that in the next two sections.

20 Men

If you’re a man or can find a male to test for each of your genealogy lines, the Y DNA is the fastest, most reliable way to identify an ancestral surname – not just in your father’s generation, but moving back in time.

Of the 20 men selected, all men had matches to their surname. However, one Smith man, #18, had a unique situation that might be very genealogically relevant.

I’ll discuss each match briefly with some commentary below the chart.

Surname Match Name 12 Marker 111 Marker Big Y Advanced – 12 + FF Both
1 Howery Howery 9 of 20 2 of 2 0 (none tested) 1
2 Graves Graves 8 of 51 2 of 8 1 Graves + others 1 – different surname
3 Perkins Perkins/McDonald 16 of 1762 1 of 63, many McDonalds 0 Perkins (no testers) but several McD names 8 – 2 McDonald
4 Napier Napier 19 of 19,217 2 of 13 2 Napier + others 1 + many others
5 Rice Rice 45 of 58 14 of 19 7 of 10 1
6 Rader Rader  13 of 18,576 7 of 7 7 3
7 Estes Estes 69 of 502 21 of 24 9 of 10 2 + 4 different surname
8 Campbell Campbell 178 of 369 61 of 103 7 of 10 4 of 5
9 Lentz Lentz 1 of 1 0 of 1 1 different name, no other Lentz Big Y testers 0
10 Bonnevie Bonnevie 1 of 1 (tested to 37) 0 0 no test
11 Vannoy Vannoy 7 of 49 2 of 4 0 of 1 0
12 Lore/Lord Lore/Lord 3 of 7 1 of 3 1 of 1 0
13 Clarkson/Claxton Clarkson/Claxton 19 of 540 1 of 1 0 of 9 (No Big Y testers) 0 of 3
14 Muncey Muncy/Muncey 9 of 155 7 of 16 1 of 4 1
15 Miller Miller 5 of 6 2 at 67, no 111 testers 0 – no Miller match testers 1 of 2
16 Speak(s) Speak(s) 9 of 9 21 of 51 4 of 17 0
17 Smith Smith/Jennings 2 of 16, 9 Jennings 0 of 2 (Jennings) 1 Jennings of 3 1 Jennings
18 Bolton Bolton 8 of 1750 2 of 2 0 of 28 0 of 12
19 Crumley Crumley 10 of 79 7 of 93 3 of 127 0 of 2
20 Harrell Harrell 81 of 17,638 3 of 7 2 of 2 0 of 119

Messages Revealed in the Results

Let’s briefly review the information we’ve discovered and extrapolate from each of these 20 matches. Analysis is the key to success.

  1. The Howery surname is rather unusual. This man had only two 111 marker matches and both were to men of the same surname. Half of his 12 marker matches are the same surname. None of his matches had taken the Big Y test, so he has no same-surname or other surname matches there. He did match one of his Y DNA matches on the Family Finder test though. This is high-quality confirmation that Howery is indeed the biological ancestral surname and our tester can set about finding and confirming his common ancestors with his matches.
  2. The Graves male had several 12-marker matches, but many 12-marker matches have not tested at the 111 marker level. He matches one Graves male on the Big Y plus some men with other surnames. The Big Y reaches back further in time, so these matches may reflect common ancestors before the advent of surnames.
  3. Our Perkins male has very interesting matches. He does have both 12 and 111 Perkins matches, but he also had a LOT of McDonald matches. More McDonald matches than Perkins matches. This suggests that indeed, his ancestors were Perkins, at least back to the earliest known ancestor (EKA), but before that, he may well be a member of the McDonald Y DNA clan. There were no Perkins Big Y testers, but if I were him, I’d ask my Perkins matches to upgrade.
  4. I can tell by looking at the huge number of 12 marker matches for our Napier man that he is haplogroup R, the most common in Europe, with an EXTREMELY common 12 marker haplotype. Note how dramatically the number of 111 marker matches drops – from 19,000+ to 13 – a perfect example of why we suggest men upgrade to at least 111 markers to refine their matches. Both of his 111 marker Napier matches have upgraded to the Big Y, and he matches them there as well. He does match one Napier on both the 12 marker test and Family Finder Advanced Matching – but he also matches MANY other men. This is because of the extremely high number of 12 marker matches. In his case, I would only use Y DNA marker panels higher than 12 markers in the Advanced Matching.
  5. Lots of Rice testers from this line confirm a common ancestor. I wonder if there is a Rice male from someplace overseas who has tested. If so, this might be that “jump the pond” event that genealogists who have European ancestors who are found in colonial America seek.
  6. Our Rader tester also has many 12 marker matches, but his only matches at 111 and on the Big Y are his Rader kinsmen. No doubt about that surname whatsoever.
  7. My Estes line has several 12 marker matches, but that gets slimmed right down at 111 markers. Using the Big Y test, we further divided those branches of Estes men. I literally could not have sorted out who was descended from whom without the Big Y test results. Way too many Johns, Williams, and Elishas in burned counties in Virginia.
  8. Our Campbell tester is unquestionably confirmed to be descended from the Clan Campbell line from Inverary, Scotland. However, the challenge in this family is which Campbell male they descend from in Virginia. The Big Y-700 test has narrowed the possibilities significantly, and the tester is currently in the process of attempting to convince his three closest Y STR 111 matches to take the Big Y test. Yes, he has offered to pay as well. Hey, in genealogy, you do what you need to do. Y DNA is likely the only way this puzzle from the 1700s will ever be unraveled.
  9. The Lentz line is German with rare DNA, but they do have a confirming match to another Lentz male.
  10. Bonnievie spelled various ways is French and has one 12 marker match who only tested to 37 markers. He has no matches above that. Not only is his Y DNA quite rare, DNA testing is illegal in France which makes additional testers few and far between. Unfortunately, his one match has not taken a Family Finder test either.
  11. Several men from the Vannoy line have tested and a Big Y test match to another man confirmed that the ancestral line is Dutch – not French as was speculated for decades. The STR tests have revealed Vannoy lines, by similar spellings, from lines we didn’t know existed.
  12. Lore or Lord is a rare Acadian family surname. Our tester does have matches to other Lore/Lord men, which confirms the line to the ancestor who arrived in Acadia in the early 1600s, but future testers will be needed before we can confirm his origins to either France or as one of the English soldiers who served at the fort.
  13. The Clarkson/Claxton testers confirm two lines, one spelled each way, from Tennessee and North Carolina line to a common ancestor in either Virginia or North Carolina in the 1770s. However, the family is still working to further assemble that puzzle. Finding a Clarkson/Claxton match on STR markers or the Big Y who descends from a male not from the two known lines would help immensely. Our hope is that a Clarkson/Claxton from an earlier line or from the British Isles will test and provide that push over the brick wall. Any Clarkson/Clarkson men out there who haven’t taken the Y DNA test yet?
  14. The Muncy/Munsey line is confirmed to a common ancestor born in England in and died on Long Island in 1674. Based on both STR and SNP results from the Big Y, we can narrow the lineages of Muncy men who test and aren’t familiar with their Muncy genealogy. Of course, the Muncy line eventually migrated through Virginia and seemingly named every man in every generation either John, Samuel or Francis – but DNA testing helps immensely to sort this out.
  15. While Miller is a very common occupation surname, DNA testing has put to rest many incorrect myths about this particular Swiss Miller line. Men with the same surname in the same location, even in the same church, does not equate to the same genetic family line. Any male with a common surname absolutely needs to do Y DNA testing and at the highest level. There’s nothing worse than spending countless hours barking up the wrong tree – especially when Y DNA testing will save you.
  16. Our Speaks man matched another Speak male who knew where his ancestors were from in Lancashire. Testing additional men living in Lancashire at the 111 marker and Big Y levels allowed the Speak line to be divided into specific lineages beginning in the 1500s, piecing together the earlier ancestors into a descendant tree. Recently, an “orphan” line in the US has been connected to his ancestors, thanks to both STR values AND Big Y testing.
  17. Smith is quite interesting because we discover that something doesn’t add up. Our Smith man matches two Smith men who have the same ancestor born in 1810 but that son, John, does not match the descendants of his brothers. There seems to be an undocumented adoption of some sort at that point in time. John Smith’s Y DNA is not the same as his brothers whose descendants match each other. Given that our Smith tester, and his two matches, do not match the other descendants of the ancestor they are supposed to descend from, we can pinpoint the generation in which the adoption event occurred. However, we have a further clue, because these Smith men match the Jennings line closely- including one advanced match where the Smith man also matches autosomally in addition to the Y DNA. This is clearly a case of “you don’t know what you don’t know” and would never have known without Y DNA testing.
  18. Our Bolton tester matches several other Bolton men who descend from a common immigrant ancestor. If the Bolton matches upgrade to the Big Y-700 test, they might be able to determine separate genetic lines branching through the various sons of the immigrant ancestor. Evaluating the surnames that the tester matches at the Big Y level may assist with evaluating deeper ancestry in England and determining where the Bolton ancestors originated before the 1600s in London.
  19. Crumley is a difficult family to research, in part because several people with the same surname are found in close proximity, but Y DNA testing has shown that these men are not related. Big Y testing has disproved that the Crumley progenitor originated in Germany, although a different Crumley family did. The Big Y matches include many Mc… surnames along with Ferguson and Gillespie. The Big Y Block Tree shows the closest matches with ancestors born in Scotland, Ireland, and Northern Ireland – which is very likely where the Crumley progenitor originated too.
  20. Harrell is another difficult surname, spelled numerous ways with several Harrell/Herrell/Harrold/Herrald families moving westward in the 1600s and 1700s from the thirteen original colonies. This Harrell line has not been able to connect to a single progenitor in the colonies, yet, but Y DNA testing and the block tree confirm that this Harrell line originated in the British Isles, very likely England.

What Did These 20 Men Learn?

Every single one of these men benefitted from Y DNA testing, although exactly how depends to some extent on their testing goal. Other men also benefitted by matching.

One man, our Smith, #17, needs to look at the Jennings family prior to 1810. Is there a Jennings man living in close proximity, or do court records exist that might be illuminating?

If one of these 20 men had been an adoptee or otherwise searching for an unknown paternal line, they would have been able to identify a surname connection and perhaps a progenitor ancestor. I encourage everyone to either order a Family Finder autosomal test or transfer a DNA file (for free) from another vendor if they have taken an autosomal test elsewhere. Step-by-step transfer instructions are found here. Be sure that the Y DNA and autosomal tests are on the same kit/account at FamilyTreeDNA so that you can use the advanced matching tool.

With the Big Y-700 test, these men can discern or confirm lines descending from their direct paternal ancestors – sometimes within a generation or two of the tester. This test is so sensitive and granular and has such deep coverage (millions of bases) now that often we find small mutations between fathers and sons or brothers.

While STR markers, 12-111 are genealogically important, they do tend to mutate rapidly and sometimes back-mutate. SNPs, tested in the Big Y-700 test, don’t do that, and the power of STRs and SNPs together have the potential to break down brick walls and correct trees. In fact, it happens every single day.

Resources

If you’d like to watch a video about Y DNA, Y DNA-related genetic terms, and the benefits of Big Y-700 testing, you can watch a great educational video by Janine Cloud here. Be sure to note the part where she talks about why people who have previously taken the Big Y-500 might want to upgrade to the Big Y-700.

Also, check out my Y DNA Resource page, here.

What Don’t You Know?

Y DNA tests, including the Big Y-700 which includes all STR panels, and the autosomal Family Finder test are on sale at FamilyTreeDNA right now for Father’s Day.

There’s no better time to find missing pieces and discover information that you can’t find any other way.

Click here to order Y DNA tests, the Family Finder, or upgrade an existing test.

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

What is a Heteroplasmy and Why Do I Care?

Most people have never heard of a heteroplasmy – but you might have one.

You Might Have a Heteroplasmy If…

…You have no exact matches at the full sequence mitochondrial DNA level.

A heteroplasmy is one of the first things I think of when someone tells me they have no exact full sequence matches but several that are a genetic distance of 1, meaning one mutation difference.

That phenomenon usually means the tester has a rare mutation that no one else has, at least no one who has tested their mitochondrial DNA (yet) – and that mutation just might be a heteroplasmy.

Heteroplasmies are generally (but not always) quite recent mutations. Actually, heteroplasmies are mutations caught in the act of mutating – kind of like an insect in genetic amber – frozen in time in your generation.

By Anders L. Damgaard – http://www.amber-inclusions.dk – Baltic-amber-beetle CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=16792582

Let’s say you might have a heteroplasmy. Or maybe you want to see if you do. Even if YOU don’t have a heteroplasmy, other people’s heteroplasmies can and will affect matching.

Here’s everything you ever wanted to know about heteroplasmies but didn’t know to ask😊

Heteroplasmies are Fascinating

A heteroplasmy is actually quite interesting because it’s a genetic mutation in progress.

This means you have two versions of a DNA sequence showing in your mitochondrial DNA at a specific location.

Said another way, at a specific genetic location, you show both of two separate nucleotides. Amounts detected of a second nucleotide greater than 20% are considered a heteroplasmy. Amounts below 20% are ignored. Generally, within a few generations, the mutation will resolve in one direction or the other – although some heteroplasmies persist for several generations and can sometimes define family branches.

If you’d like to read more about mitochondrial DNA, I wrote a series of step-by-step articles and combined them into one resource page, here.

Show Me!

You can easily check to see if you have a heteroplasmy by signing on to your FamilyTreeDNA account. Hopefully, you’ve taken the full sequence test.

Today, new testers, thankfully, can only purchase full sequence tests, so HVR1 results don’t present quite the same challenges when combined with heteroplasmies as they used to. We’ll talk about that in a minute.

If you have only taken the HVR1 or HVR1+HVR2 “Plus” test, as opposed to the Full Sequence, you can upgrade by signing on here and clicking on the “Full” button on the Maternal Ancestry section of your personal page.

These buttons will be pink if you’ve taken that test already, and grey if you need to upgrade. If you have an account at FamilyTreeDNA, you can add a mitochondrial DNA test to that same account by clicking on “Add Ons and Upgrades” at the top of your personal page. You can order a test if you’re a new customer, here.

How Do I Know if I Have a Heteroplasmy?

Your mitochondrial DNA has a total of 16,569 locations that you can think of as addresses. If your DNA at those locations is normal, meaning no mutations, they won’t be listed in your results.

Mutations are shown in your mitochondrial DNA results by a different letter at the end of the location.

For example, here are my mutations for my HVR1 region. Each of these locations in the HVR1 region has a mutation.

For locations that are shown in your results, meaning those where you have a mutation, you’ll see, in order:

  • A letter, either T, A, C or G
  • The location number
  • A different letter, typically another one of T, A, C or G, but sometimes a small d

For the first mutation, C16069T, the location address is 16069, the normal value is C, the mutation that occurred is T.

Heteroplasmies are shown in your mitochondrial DNA results by letters other than T, A, C, G or d at the end of the location.

I don’t have any heteroplasmies, so I’m switching to the results of a cousin who has a heteroplasmic mutation at location T16362Y to use as an example. The trailing Y means they have a heteroplasmy at location 16362.

But first, what do those letters mean?

The Letters

The letters stand for the nucleotide bases that comprise DNA, as follows:

  • T – Thymine
  • A – Adenine
  • C – Cytosine
  • G – Guanine
  • d – a deletion has occurred. There is no nucleotide at this location.

For location T16362Y, the first letter, T, is the “normal” value found at this location. If a mutation has occurred, the second letter is the mutated value. Normally, this is one of the other nucleotides, A, C or G.

Any other letter after the location has a specific meaning; in this case, Y means that both a C and a T were found, per the chart below.

Note – if you have a small letter t, a, c or g, it’s not a heteroplasmy, and I wrote about small letters and what they mean in the article, Mitochondrial DNA Part 2: What Do Those Numbers Mean?

Check Your Results

On your FamilyTreeDNA personal page in the mtDNA section, click on the Mutations tab.

If you’ve taken the full sequence test, you’ll see Extra Mutations. You’re looking for any mutation that ends in any letter other than T, A, C, G or d.

If you haven’t taken the full sequence test, you don’t have “Extra” mutations listed, but you can still view your mutations for the HVR1 and HVR2 regions.

Look for any value that has any letter other than T, A, C, G or lower case d at the end of the location.

The Y tells us that this location is a heteroplasmy.

Heteroplasmy Matching

Ok, let’s look at a heteroplasmy mutation at location 16326. A heteroplasmy can occur at any mitochondrial location. I’ve selected this location because it occurs in the HVR1 region of the mitochondrial DNA, so even people who haven’t tested at the full sequence level will see results for this location. Plus, the location at which the heteroplasmy occurs affects matching in different ways.

Using the example of T16362Y, the Y tells us that both nucleotides C and T were found. This location should match against anyone carrying the following values in the same location:

  • Y (letter indicating a C/T heteroplasmy)
  • T (standard or normal value)
  • C (mutated value)

However, currently at Family Tree DNA, the heteroplasmy only counts as a match to anyone with a Y, the specific heteroplasmy indicator, and the “normal” value of T, but not the mutated value of C.

This table shows how heteroplasmies are counted at FamilyTreeDNA. For heteroplasmy T16362Y, based on the value your potential match has at this location, you either will or will not be considered a match at that location.

Scenario Other Person’s Value Your Result – T16362Y
1 T16362Y – heteroplasmy indicator Match to you at this location
2 T16362T – normal value, not a mutation Match to you at this location
3 T16362C – mutated value Not counted as match to you at this location
  • If your match has a value of Y, the heteroplasmic C/T value, they are counted as a match to you, so no problem.
  • If your match has a value of T, the normal value, this location won’t be shown on their mutation list at all. They WILL be counted as a match to you so there’s no issue.
  • If your match has a value of C, the mutated value, in my opinion they should also be counted as a match to you, but they aren’t today. The logic, I believe, was that the most likely value is the standard or normal value and that the mutated value is much less likely to be accurate. Regardless, I’ve requested this change and am hoping for a matching adjustment in a future release for heteroplasmies.

Heteroplasmies do affect matching at the different levels.

Viewing Your Matches

Mitochondrial DNA, for testing purposes, is broken into three regions, HVR1 (hyper-variable region 1), HVR2 and the Coding Region.

At FamilyTreeDNA, you can view your matches at each level. The matches are cumulative, meaning that the HVR2 level includes the HVR1 level information, and the Coding Region level includes the HVR1 and HVR2 regions. That highest level which includes all three regions shows information from your entire your entire full mitochondrial DNA sequence.

Heteroplasmy Effects on Matching

If you otherwise match someone exactly, but one of you has a heteroplasmy and the other person carries the mutated value, you will be counted as a mismatch of 1 at the full sequence level.

A mismatch has different effects when it occurs in the HVR1, HVR2 or Coding Regions, respectively.

GD is an abbreviation for Genetic Distance which is how mutations are counted. A GD of 1 means the two people have one mutation difference between them.

In the following chart, the effects of you having a nonmatch, heteroplasmic or otherwise, in each of the regions is shown at each level. The region in which the mismatch occurs is shown in the first column, at left, and the effect the mismatch has on matching in each region is shown in columns 2-4.

The red sections are not counted as matches.

Mismatch Occurs in this Region HVR1 Level Match to Someone Else HVR2 Level Match to Someone Else Coding Region Level Match to Someone Else
HVR1 region nonmatch GD of 1 means no match GD of 1 means no match GD of 1 is a match
HVR2 region nonmatch Does not affect HVR1 – so you are a match GD of 1 means no match GD of 1 is a match
Coding Region nonmatch Does not affect HVR1 – so you are a match Does not affect HVR2 – so you are a match GD of 1 is a match

For purposes of this discussion, we’re assuming our two people being compared in the chart above match exactly on every other location so matching is not otherwise affected.

  • If your heteroplasmic nonmatch occurs in the HVR1 region – in other words, scenario 3 – you’ll fall into the HVR1 nonmatch row. That means you won’t be shown as a match at the HVR1 or HVR1+HVR2 levels, but you WILL be shown as a full sequence match.
  • If your heteroplasmic nonmatch is in the HVR2 region of addresses, it won’t affect your HVR1 matches, but it will affect your HVR2 and Coding Region matches. This means you will be shown as HVR1 match, not an HVR2 match, but will be a full sequence match.
  • If your heteroplasmic nonmatch is in the Coding Region, it won’t affect your HVR1 or HVR2 matches, but it will affect your Coding Region matches. However, it won’t preclude matches and you’ll be shown as a match in all three regions.

To be very clear, I have no issue with these match thresholds. It’s important to understand how this works, and therefore why heteroplasmic (and other) mismatches in specific regions affect our matches in the way they do.

Why Aren’t Mismatches of 1 Counted as Matches in the HVR1 or HVR2 Regions?

The match threshold at FamilyTreeDNA for the HVR1 and the HVR1+HVR2 regions, both small regions of about 1000 locations each, is that only an exact match is considered a match. Therefore, a heteroplasmic nonmatch in this region can really be confusing and sometimes misleading, especially if either or BOTH people have NOT tested at the full sequence level.

These are the match thresholds in effect today.

HVR1 GD or # of Mutations Allowed for a Match HVR2 GD or # of Mutations Allowed for a Match Coding Region GD or # of Mutations Allowed for a Match
0 – no mutations allowed 0 – no mutations allowed 3 mutations allowed

If both people match on either the heteroplasmy identified (Y in our case) or one person has the normal value – all is fine. But if one person has a heteroplasmy and the other has the mutated value – then a mismatch occurs. This is really only problematic when:

  • The heteroplasmy mismatch is in the HVR1 region and both people have only tested at that level, causing the two people to not match at all.
  • The heteroplasmy mismatch occurs in combination with other mutations that, cumulatively, push the two people over the GD 3 full sequence matching threshold.

The second scenario happens rarely, but I have seen situations where people don’t match their mothers, aunts, siblings, or other close relatives because of multiple heteroplasmic mutations occurring in different people.

And yes, this is hen’s teeth rare – but it does occasionally happen.

So, what’s the bottom line about heteroplasmies?

Heteroplasmy Bottom Line

  1. You can suspect a heteroplasmy if you have full sequence matches, but no exact matches.
  2. If you have a heteroplasmy in the HVR1 region, understand that you may not have many or any matches in the HVR1 and HVR2 regions. The remedy is to test at the full sequence level and check matches there.
  3. If you have a heteroplasmy and don’t match someone you expect to match – reach out to them and ask about their value at that specific location. If that location isn’t listed for them in their results, then they have no mutation there and your heteroplasmy is NOT the cause of you not matching with them.
  4. If you don’t match someone you expect to match, reach out to them and ask if THEY have any heteroplasmies. The easiest way to ask is, “Do you have any mutations listed that end with anything other than T, A, C, G or d?” Feel free to link to this article so that they’ll know where to look, and why you’re asking.

Do you have any heteroplasmies?

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

Using Mitochondrial Haplogroups at 23andMe to Pick the Lock

I’ve been writing recently about using haplogroups for genealogy, and specifically, your mitochondrial DNA haplogroup. You can check out recent articles here and here.

While FamilyTreeDNA tests the entire mitochondria and provides you with the most detailed and granular haplogroup, plus matches to other testers, 23andMe provides mid-range level haplogroup information to all testers.

I’ve been asked how testers can:

  1. Locate that information on their account
  2. What it means
  3. How to use it for genealogy

Let’s take those questions one by one. It’s actually amazing what can be done – the information you can piece together, and how you can utilize one piece of information to leverage more.

Finding Your Haplogroup Information

At 23andMe, sign in, then click on Ancestry.

Then click on Ancestry Overview.

You’ll need to scroll down until you see the haplogroup section.

If you’re a female, you don’t have a paternal haplogroup. That’s misleading, at best and I wrote about that here. If you click to view your report, you’ll simply be encouraged to purchase a DNA test for your father.

Click on the maternal haplogroup panel to view the information about your mitochondrial haplogroup.

You’ll see basic information about the haplogroup level 23andMe provides. For me, that’s J1c2.

Next, you’ll view the migration path for haplogroup J out of Africa. Haplogroup J is the great-granddaughter haplogroup of L3, an African haplogroup. Mutations occurred in L3 that gave birth to haplogroup N. More mutations gave birth to R, which gave birth to J, and so forth.

You’ll notice that haplogroup J1c2 is fairly common among 23andMe customers. This means that in my list of 1793 matches in DNA Relatives, I could expect roughly 9 to carry this base haplogroup.

There’s more interesting information.

Yes, King Richard is my long-ago cousin, of sorts. Our common mitochondrial ancestor lived in Europe, but not long after haplogroup J1c migrated from the Middle East.

One of my favorite parts of the 23andMe information is a bit geeky, I must admit.

Scroll back to the top and select Scientific Details.

Scroll down, and you’ll be able to see the haplogroup tree formation of all your ancestral haplogroups since Mitochondrial Eve who is haplogroup L. You can see L3 who migrated out of Africa, and then N and R. You can also see their “sister clades,” in blue. In other words, L3 gave birth to L3a through M, which are all sisters to N. N gave birth to R, and so forth.

On the free Public Mitochondrial Tree, provided by FamilyTreeDNA, you can see the haplogroups displayed in a different configuration, along with the countries where the most distant known ancestors of FamilyTreeDNA testers who carry that haplogroup are found. Note that only people who have taken the full sequence test are shown on this tree. You can still check out your partial haplogroup from 23andMe, but it will be compared to people who don’t have a subgroup assigned today on this public tree.

If you were to take the full sequence test at FamilyTreeDNA, you might well have a more refined haplogroup, including a subgroup. Most people do, but not everyone.

Here’s the second half of the 23andMe haplogroup tree leading from haplogroup R to J1c2, my partial haplogroup at 23andMe.

Here’s the public tree showing the J1c2 haplogroup, and my most refined haplogroup, J1c2f from my full sequence test at FamilyTreeDNA.

If you’re interested in reading more in the scientific literature about your haplogroup, at the bottom of the 23andMe Scientific Details page, you’ll see a list of references. Guaranteed to cure insomnia.😊

You’re welcome!

Using Your Haplogroup at 23andMe for Genealogy

Enjoying this information is great, but how do you actually USE this information at 23andMe for genealogy? As you already know, 23andMe does not support trees, so many times genealogists need to message our matches to determine at least some portion of their genealogy. But not always. Let’s look at different options.

While a base haplogroup is certainly interesting and CAN be used for some things, it cannot be used, at 23andMe for matching directly because only a few haplogroup-defining locations are tested.

We can use basic haplogroup information in multiple ways for genealogy, even if your matches don’t reply to messages.

23andMe no longer allows testers to filter or sort their matches by haplogroup unless you test (or retest) on the V5 platform AND subscribe yearly for $29. You can read about what you receive with the subscription, here. You can purchase a V5 test, here.

To get around the haplogroup filtering restriction, you can download your matches, which includes your matches’ haplogroups, in one place. I provided instructions for how to download your matches, here.

While 23andMe doesn’t test to a level that facilitates matching on mitochondrial alone, even just a partial haplogroup can be useful for genealogy.

You can identify the haplogroup of specific ancestors.

You can identify people who might match on a specific line based on their haplogroup. and you can use that information as a key or lever to unlock additional information. You can also eliminate connections to your matches on your matrilineal line. 

Let’s start there.

Matrilineal Line Elimination

For every match, you can view their haplogroup by clicking on their name, then scrolling down to view haplogroup information.

As you can see, Stacy does not carry the same base haplogroup as me, so our connection is NOT on our direct matrilineal line. We can eliminate that possibility. Our match could still be on our mother’s side though, just not our mother’s mother’s mother’s direct line.

If Stacy’s haplogroup was J1c2, like mine, then our connection MIGHT be through the matrilineal line. In other words, we can’t rule it out, but it requires more information to confirm that link.

Identifying My Ancestor’s Haplogroups

I’ve made it a priority to identify the mitochondrial haplogroups of as many ancestors as possible. This becomes very useful, not only for what the haplogroup itself can tell me, but to identify other matches from that line too.

click to enlarge images

Here’s my pedigree chart of my 8 great-grandparents. The colored hearts indicate whose mitochondrial DNA each person inherited. Of course, the mothers of the men in the top row would be shown in the next generation.

As you can see, I have identified the mitochondrial DNA of 6 of my 8 great-grandparents. How did I do that?

  • Testing myself
  • Searching at FamilyTreeDNA for candidates to test or who have already tested
  • Searching at Ancestry for candidates to test, particularly using ThruLines which I wrote about, here.
  • Searching at MyHeritage for candidates to test, particularly using Theories of Family Relativity which I wrote about, here
  • Searching for people from a specific line at 23andMe, although that’s challenging because 23andMee does not support traditional trees
  • Searching for people who might be descended appropriately using the 23andMe estimated “genetic tree.” Of course, then I need to send a message and cross my fingers for a reply.
  • Searching for people at WikiTree by visiting the profile of my ancestors whose mitochondrial DNA I’m searching for in the hope of discovering either someone who has already taken the mitochondrial DNA test, or who descends appropriately and would be a candidate to test

In my pedigree chart, above, the mitochondrial DNA of John Ferverda and his mother, Eva Miller, T2b, is a partial haplogroup because I discovered the descendant through 23andMe.

I was fairly certain of that match’s identity, but I need two things:

  • Confirmation of their genealogical connection to Eva Miller Ferverda
  • Someone to take the full sequence test at FamilyTreeDNA that will provide additional information

I confirmed this haplogroup by identifying a second person descended from Eva through all females to the current generation who carries the same haplogroup

Now that I’ve confirmed one person at 23andMe who descends from Eva Miller Ferverda matrilineally, and I know their mitochondrial DNA haplogroup, I can use this information to help identify other matches – even if no one responds to my messages.

This is where downloading your spreadsheet becomes essential.

Download Your Matches

Next, we’re going to work with a combination of your downloaded matches on a spreadsheet along with your matches at 23andMe on the website.

I provided step-by-step instructions for downloading your matches, here.

On the spreadsheet, you’ll see your matches and various columns for information about each match, including (but not limited to):

  • Name
  • Segment information
  • Link to tester’s profile page (so you don’t need to search for them)
  • Maternal or paternal side, but only if your parents have tested
  • Maternal haplogroup (mitochondrial DNA for everyone)
  • Paternal haplogroup (Y DNA if you’re a male)
  • Family Surnames
  • Family Locations
  • Country locations of 4 grandparents
  • Notes (that you’ve entered)
  • Link to a family tree if tester has provided that information. I wrote about how to link your tree in this article. The tree-linking instructions are still valid although 23andMe no longer partners with FamilySearch. You can link an Ancestry or MyHeritage tree.

I want to look for other people who match me and who also have haplogroup T2b, meaning they might descend from Eva Miller Ferverda, her mother, Margaret Elizabeth Lentz, or her mother, Johanne Fredericka Ruhle in the US.

To be clear, the mitochondrial DNA reaches back further in time in Germany, but since 23andMe limits matches to either your highest 1500 or 2000 matches (it’s unclear which,) minus the people who don’t opt-in to Relative Sharing, I likely wouldn’t find anyone from the German lines in the 23andMe database as matches. If you subscribe to the V5+$29 per year version of the test, you are allowed “three times as many matches” before people roll off your match list.

On the download spreadsheet, sort on the maternal column.

I have several people who match me and are members of haplogroup T2b.

Upon closer evaluation, I discovered that at least one other person does descend from Eva Miller, which confirmed that Eva’s haplogroup is indeed T2b, plus probably an unknown subclade.

I also discovered two more people who I think are good candidates to be descended from Eva Miller using the following hints:

  • Same haplogroup, T2b
  • Shared matches with other known descendants of Eva Miller, Margaret Lentz or Frederica Ruhle.
  • Triangulation with some of those known descendants

Now, I can look at each one of those matches individually to see if they triangulate with anyone else I recognize.

Do be aware that just because these people have the mitochondrial haplogroup you are seeking doesn’t necessarily mean that you’re related through that line. However, as I worked through these matches WITH the same haplogroup, I did find several that are good candidates for a common ancestor on the matrilineal line based on matches we share in common.

Let’s hope they reply, or they have tested at a different vendor that supports trees and I can recognize their name in that database.

Assign a Side

At 23andMe, one of the first important steps is to attempt to assign a parental side to each match, if possible.

If I can assign a match to a “side” of my tree based on shared matches, then I can narrow the possible haplogroups that might be of interest. In this case, I can ignore any T2b matches assigned to my father’s side.

The way to assign matches to sides, assuming you don’t have parents to test, is to look for triangulation or a group of matches with known, hopefully somewhat close, relatives.

I wrote about Triangulation Action at 23andMe, here.

For example, my top 4 matches at 23andMe are 2 people from my father’s side, and 2 people from my mother’s side, first or second cousins, so I know how we are related.

Using these matches, our “Relatives in Common,” and triangulation, I can assign many of my matches to one side or the other. “Yes” in the DNA Overlap column means me, Stacy and that person triangulate on at least one segment.

Do be careful though, because it’s certainly possible to match someone, and triangulate on one segment, but match them from your other parent’s side on a different segment.

At the very bottom of every match page (just keep scrolling) is a Notes field. Enter something. I believe, unless this has changed, that if you have entered a note, the match will NOT roll off your list, even if you’ve reached your match limit. I include as much as I do know plus a date, even if it’s “don’t know which side.” At least I know I’ve evaluated the match.

However, equally as important, when you download your spreadsheet, you’ll be able to see your own notes, so it’s easy to refer to that spreadsheet when looking at other relatives in common on your screen.

I have two monitors which makes life immensely easier.

Working the Inverse

Above, we used the haplogroup to find other matches. You can work the inverse, of course, using matches to find haplogroups.

Now that you’ve downloaded your spreadsheet, you can search in ways you can’t easily at 23andMe.

On your spreadsheet, skim locations for hints and search for the surnames associated with the ancestral line you are seeking.

Don’t stop there. Many people at 23andMe either don’t enter any information, but some enter a generation or two. Sometimes 4 surnames, one for each grandparent. If you’ve brought your lines to current genealogically, search for the surnames of the people of the lines you seek. Eva’s grandchildren who would carry her mitochondrial haplogroup would include the surnames of Robison, Gordon, and several others. I found two by referencing my descendants chart in my computer genealogy program to quickly find surnames of people descended through all females.

The link to each match’s profile page is in the spreadsheet. Click on that link to see who you match in common, and who they and you triangulate with.

Because each of the people at 23andMe does have at least a partial mitochondrial DNA haplogroup, you may be able through surname searching, or perhaps even viewing matches in common, to reveal haplogroups of your ancestors.

If you’ve already identified someone from that ancestral line, and you’re seeking that ancestor’s mitochondrial DNA, highlight the people who triangulate with the known descendant on your spreadsheet. Generation by generation, search for the surnames of that ancestor’s female grandchildren. I found one line just one generation downstream which allowed me to identify the ancestor’s haplogroup. In other words, the birth surname of my ancestor was missing, and that of her husband, but the surname of one of her granddaughters was there.

That person did indeed match and triangulate with other known descendants.

Sorting by haplogroup, at that point, showed two additional people I was able to assign to Eva’s haplogroup line and confirm through what few tidbits of genealogy the testers did provide.

I started with not knowing Eva’s haplogroup, and now I not only know she is haplogroup T2b, I’ve identified and confirmed a total of 6 people in this lineage who also have haplogroup T2b – although several descend from her mother and grandmother. I’ve also confirmed several others through this process who don’t have haplogroup T2b, but who triangulated with me and those who do. How cool is this?

I’ll be checking at FamilyTreeDNA to see if any of Eva’s T2b descendants have tested or transferred there. If I’m lucky, they’ll have already taken the mitochondrial DNA test. If not, I’ll be offering a mitochondrial DNA full sequence testing scholarship to the first one of those matches to accept.

Is this process necessarily easy?

No, but the tools certainly exist to get it done.

Is it worth it?

Absolutely.

It’s one more way to put meat on the bones of those ancestors, one tiny piece of information at a time.

I’ll be reaching out to see if perhaps any of my newly identified cousins has genealogical information, or maybe photos or stories that I don’t.

Tips and Tools

For tips and tools to work with your mitochondrial DNA haplogroups, read the article Where Did My Mitochondrial DNA Haplogroup Come From?

Please visit the Mitochondrial DNA Resource page for more information.

You can also use Genetic Affairs AutoCluster tool to assist in forming groups of related people based on your shared matches at 23andMe and FamilyTreeDNA.

What Can You Find?

What can you find at 23andMe?

Your ancestor’s haplogroups, perhaps?

Or maybe you can use known ancestral haplogroups as the key to unlocking your common ancestor with other matches.

I found an adoptee while writing this article with common triangulated matches plus haplogroup T2b, and was able to provide information about our common ancestors, including names. Their joy was palpable.

Whoever thought something like a partial haplogroup could be the gateway to so much.

23andMe tests are on sale right now for Mother’s Day, here.

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

Want Ancestor-Specific Ethnicity? Test Mitochondrial DNA

Recently, someone’s mitochondrial DNA test revealed that their ancestor was from Africa, but that person had no African heritage showing in their autosomal results or revealed in their genealogy.

They wondered how this was possible and which test was “wrong.” The answer is that neither test is wrong.

Mitochondrial DNA is important EXACTLY for this reason. It does not divide with inheritance, while autosomal DNA does and eventually disappears entirely.

Mitochondrial DNA is inherited from our direct matrilineal line – our mother – her mother – on up the tree directly through all mothers.

If you need a refresher, the article, 4 Kinds of DNA for Genetic Genealogy shows how different types of DNA are inherited from our ancestors.

Mitochondrial DNA and Ethnicity

Let’s look specifically at mitochondrial DNA ethnicity as compared to autosomal ethnicity.

In the chart above, an African ancestor (or ancestor of any ethnicity) who was the only ancestor of that ethnicity in your heritage is shown at the top – your five times great-grandmother. Using a 25-year generation, their autosomal DNA would have been admixed with partners of a different ethnicity 7 times between them and you.

Of course, that means the autosomal DNA of that ancestor would have been divided in (roughly) half 7 times.

Percent of Inherited Autosomal DNA

In the Percent of Inherited Autosomal DNA column, we look at it from your perspective. In other words, of the 100% of your ethnicity, stepping back each generation we can see how much of that particular ancestor you would carry. You carry 50% of your mother, 25% of your grandmother, and so forth.

You inherited approximately 0.78% of your GGGGG-Grandmother’s autosomal DNA, less than 1%.

If she was 100% African, then that 0.78% would be the only African autosomal DNA of hers that you carry, on average. You could carry a little less or a little more. We know that you don’t actually inherit exactly half of each of your ancestors’ DNA from your parents, nor they from their parents, so we can only use averages in that calculation.

Ancestral Percent Autosomal Ethnicity

In the Ancestral Percent Autosomal Ethnicity column, we look at it from the ancestor’s perspective.

Of your GGGGG-Grandmother’s 100% African ethnicity, how much would each subsequent generation be expected to inherit of that ethnicity, on average?

You would inherit 0.78% of that ancestor’s DNA. Given that GGGGG-Grandma was 100% African in this example, you would carry 0.78% African ethnicity.

Percent Mitochondrial DNA Inherited

Now, look at the Percent of Mitochondrial DNA Inherited column. Your African GGGGG-Grandmother’s mitochondrial DNA was 100% African in her generation, 7 generations ago, and still is 100% African in you, today.

That’s the beauty of mitochondrial DNA. It’s a forever record – never divided and never washes away.

How else would you EVER figure out her African roots today without records? Even if you did inherit a small amount of autosomal African DNA, and the vendor reported less than 1%, how would you determine which ancestor that African DNA came from, or when?

Not to mention trying to figure out if less than 1% or any small amount of reported ethnicity is a legitimate finding or “noise.”

What about if you, like my friend, carried no African autosomal DNA from that ancestor? There would be nothing to report in your autosomal ethnicity results – but your mitochondrial DNA would still tell the story of your African ancestor. Even after that trace is long gone in autosomal DNA.

Mitochondrial DNA is MUCH more reliable for each specific line in determining the “ethnicity” or biogeographical ancestry of each ancestor. I wrote about how to use your mitochondrial DNA haplogroup, here.

Discovering Your Forever Record

Everyone can test for their own mitochondrial DNA, and you can test other family members for their matrilineal lines as well. For example, your father or his siblings carry the mitochondrial DNA of his mother. You get the idea.

I record the mitochondrial haplogroup of each of my lines in my genealogy records and on their WikiTree profile card so others can share – now and in the future.

Genealogy research of female ancestors is less difficult with at least “one” record that reaches back where surnames and autosomal DNA don’t and can’t.

What will your mitochondrial “forever history” reveal?

Mitochondrial DNA tests are on sale this week for Mother’s Day – click here to upgrade or purchase.

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

Where Did My Mitochondrial DNA Haplogroup Come From?

Mother’s Day is approaching, so I’m writing articles about mitochondrial DNA inspired by the most common questions in the Mitochondrial DNA for Genealogy Facebook group. I’ll be adding these articles to the Mitochondrial DNA Resource page, here.

FamilyTreeDNA has already started their Mother’s Day sale where both the mitochondrial DNA test and Family Finder are both on sale. Take a look.

I can’t believe how much the prices have dropped over the years – as the technology has improved. I took the full sequence mitochondrial DNA test when it was first offered and I think it was something like $800, as was the first autosomal test I ordered lo those many years ago.

Today, these tests are $139 and $59, respectively, and are critical tools for everyone’s genealogy.

Where Did My Mitochondrial DNA Haplogroup Come From?

This is one of the most common questions about mitochondrial DNA. Everyone wants to know something about their haplogroup.

The answer is multi-faceted and depends on the question you’re actually trying to answer.

There are really two flavors of this question:

  • Where did my ancestors come from in a genealogical timeframe?
  • Where did my ancestors come from before I can find them in genealogical records?

Clearly, the timeframes involved vary to some extent, because when records end varies for each ancestral line. Generally speaking, genealogy records don’t extend back beyond 500 years or so. Whenever your genealogy records end, that’s where your haplogroup and match information becomes critically important to your research.

Fortunately, we have tools to answer both types of questions which actually form a continuum.

Some answers rely on having taken a mitochondrial DNA test at FamilyTreeDNA and some don’t.

  • We’ll discuss finding haplogroup information for people who have taken a (preferably full sequence) mitochondrial DNA test at FamilyTreeDNA.
  • We’ll discuss how people who have obtained their haplogroups through autosomal testing at other vendors can find information.
  • We’ll talk about finding haplogroup information when other family members have tested who carry the mitochondrial DNA of ancestors that you do not.

Tools exist for each of these situations.

Genealogical Timeframe

If you’re trying to answer the question of where other people who carry your haplogroup are found in the world, that question can be further subdivided:

  • Where are the earliest known matrilineal ancestors of my mitochondrial DNA matches located?
  • Where are other mitochondrial DNA testers who carry my haplogroup, even if I don’t match them, found in the world?

Let’s start at FamilyTreeDNA and then move to public resources.

FamilyTreeDNA

Mitochondrial DNA Tests

FamilyTreeDNA provides a great deal of information for people who have taken a mitochondrial DNA test. We’ll step through each tab on a tester’s personal page that’s relevant to haplogroups.

To find the location of your matches’ most distant ancestors, you need to have taken the mitochondrial DNA test at FamilyTreeDNA in order to obtain results and matches. I know this might seem like an obvious statement, but you’d be surprised how many people don’t realize that there are separate tests for Y and mitochondrial DNA.

Your most detailed, and therefore most accurate and specific results will result from taking the Full Sequence test, called the mtFull test and sometimes abbreviated as FMS (full mitochondrial sequence.)

Taking a full sequence test means you’ve tested all three different regions of the mitochondria, HVR1, HVR2, and the Coding Region. Don’t worry about those details. Today, the Full Sequence test is the only test you can order, but people who tested earlier could order a partial test. Those people can easily upgrade today.

click on images to enlarge

You can see, in the upper right-hand corner of the mitochondrial section of my personal page, above, that I’ve taken both tests. The “Plus” test is the HVR1 and HVR2 portion of the test.

If you haven’t taken any mitochondrial DNA test, then the mitochondrial section doesn’t show on your personal page.

If your Plus and Full buttons are both greyed out, that means you took the HVR1 level test only, and you can click on either button to upgrade.

If your “Full” button is greyed out, that means you haven’t tested at that level and you can click on the Full button to upgrade.

Entering Ancestor Information is Important

Genealogy is a collaborative sport and entering information about our ancestors is important – both for our own genealogy and for other testers too.

Your matches may or may not enter their ancestor’s information in all three locations where it can be useful:

  • Earliest Known Ancestor (found under the dropdown beneath your name in the upper right-hand corner of your personal page, then “Account Settings,” then “Genealogy,” then “Earliest Known Ancestors”)
  • Matches Map (found on your Y or mtDNA personal page tab or “Update Location” on Earliest Known Ancestors tab)
  • Uploading or creating a tree (found under myTree at the very top of your personal page)

Please enter your information by following the notes above, or you can follow the step-by-step instructions, here. You’ll be glad you did.

Your Haplogroup

You’ll find your haplogroup name under the Badges section of your personal page as well as at the top of the mtDNA section.

click all images to enlarge

The mtDNA section at FamilyTreeDNA has five tabs that each provides different pieces of the puzzle of where your ancestors, and therefore your haplogroups, came from.

Checking all of these tabs in the mtDNA section of your results is critical to gather every piece of evidence provided by your matches and the scientists as well. Let’s take a look at each one and what they reveal about your haplogroup.

Let’s start with your matches.

Matches

On the matches page, you’ll only be matched with people who carry the same haplogroup – or at least the same base haplogroup.

The haplogroup level of your matches depends on the level of test they have taken. In other words, if your match has only taken the HVR1 level test, and they only have a base haplogroup of J, then you’ll only see them, and their haplogroup J, on your HVR1 match page. If they have tested at a higher level and you match them at the HVR1 level, you’ll see the most specific haplogroup possible as determined by the level they tested.

The (default) match page shows your matches at the highest-level test you have tested. In my case, that’s the “HVR1, HVR2, Coding Region” because I’ve taken the full sequence test which tests the entire mitochondria.

At the full sequence level match page, I’ll only see people who match me on the same extended haplogroup. In my case, that’s J1c2f.

Viewing your matches’ Earliest Known Ancestor shows where their ancestors were located, which provides clues as to where your common haplogroup was found in the world at that time. Based on those results, the geographic distribution, what you know about your own ancestors, and how far back in time, your matches’ information may be an important clue about your own ancestry.

Generally, the closer your matches, meaning the fewer mutations difference, the closer in time you share a common ancestor. I say “generally,” because mutations don’t happen on a time schedule and can happen in any generation.

The number of mutations is shown in the column “Genetic Distance.” Genetic Distance is the number of mutations difference between you and your match. So a 3 in the GD column means 3 mutations difference. A GD of 0 is an exact match. At the HVR1 and HVR2 levels, no genetic distance is provided because only exact matches are shown at those levels.

The little blue pedigree icons on the Matches page indicate people who have created or uploaded trees. You’ll definitely want to take a look at those. Sometimes you’ll discover that your matches have added more generations in their tree than is shown in the Earliest Known Ancestor field.

Is Taking the Full Sequence Test Important?

Why is taking the full sequence test important? Looking at my HVR1 matches, below, provides the perfect example.

This shows my first four HVR1-only matches. In other words, these people match me on a small subset of my mitochondrial DNA. About 1000 locations of the total 16,569 are tested in the HVR1 region. You can see that utilizing the HVR1 region, only, the people I match exactly in that region have different extended, or full haplogroups, assigned when taking the full sequence test.

Crystal and Katherine have both taken the full sequence test as indicated by FMS (full mitochondrial sequence,) and they are both haplogroup J1c2f, but Peter is haplogroup J1c2g – a different haplogroup.

Peter is shown as an exact match to me at the HVR1 level, but he has a different full haplogroup, so he won’t be shown as a match at the HVR1/HVR2/Coding Region (full sequence) level.

Crystal and Katherine will match me at the full sequence level if we have three or fewer mutations difference in total.

Susan has only tested to the HVR1 level, so she can only be assigned to haplogroup J from those 1000 locations. That tells us that (at least) one of mutations that defines haplogroup J resides in the HVR1 region.

At the HVR1 matching level, I’ll be matched with everyone I match exactly so long as they are in haplogroup J, the common denominator haplogroup of everyone at that level.

If Susan were to test at the full sequence level, she would obtain a full haplogroup and I might continue to match her at the full sequence level if she is haplogroup J1c2f and matches me with three or fewer mutations difference. At the full sequence level, I’ll only match people who match my haplogroup exactly and match at a genetic distance of 0, 1, 2 or 3.

Now, let’s look at the Ancestral Origins tab.

Ancestral Origins

The Ancestral Origins tab is organized by Country within match level. In the example above, I’ve shown exact matches or GD=0.

The match total on the Ancestral Origins tab shows the number of people whose ancestors were from various locations – as entered by the testers.

The most common places for my full sequence exact matches are in Norway and Sweden. That’s interesting because my ancestor was found in Germany in the 1600s.

There is also a comments column, to the right, not shown here, which may hold additional information of interest such as “Ashkenazi” or “Sicily” or “Canary Islands.”

The Country Total column is interesting too because it tells you how many people are in the database who have indicated that location as ancestral. The Match Percentage column is pretty much irrelevant unless your haplogroup is extremely rare.

Matches Map

The matches map falls into the “picture is worth 1000 words category.”

This is the map of the earliest known matrilineal ancestor locations of my full sequence matches.

My ancestor is the white pin in Germany. Red=exact match, orange=1 mutation difference, yellow=2 mutations difference. I have no GD=3 matches showing.

By clicking on any pin, you can see additional information about the ancestor of the tester.

You can also select an option on the map to view lower testing levels, such as my HVR1 matches shown below.

While some people are tempted to ignore the HVR1 or HVR2 Matches Maps, I don’t.

If the question you’re trying to answer is where your haplogroup came from, viewing the map of where people are located who may match you more distantly in time is useful. While we know for sure that some of these people have different full haplogroups, we also know that they are all members of haplogroup J plus some subclade. Therefore, these matches shared a common haplogroup J ancestor.

J subgroups are clearly European but some are found in Anatolia, the path out of Africa to Europe, although that could be a function of back-migration.

When looking at match maps, keep two things in mind:

  • The information is provided by testers. It’s possible for them to misunderstand what is meant by providing the information for their earliest known “direct maternal ancestor.” I can’t tell you how many male names I’ve seen here. Clearly, the tester misunderstood the purpose and what was being asked – because men don’t pass mitochondrial DNA to their offspring. Check the pins for surnames that seem to fit the pin location, and that pins have been accurately placed.
  • Testing bias. In other words, lots of people have tested in the US as compared to Europe, and probably more people in the UK than say, Turkey. Testing is still illegal in France.

Haplogroup Origins

While the Ancestral Origins tab is organized by the locations of your matches ancestors, the Haplogroup Origins tab is focused on your haplogroup by match level only.

In many cases, the numbers will match your Ancestral Origins exactly, but for other test levels, the numbers will be different.

For example, at the HVR1/HVR2 level, I can easily see at a glance the locations where my haplogroup is found, and the number of my matches in those various locations.

This page is reflective of where the haplogroup itself is found, according to your matches.

There may be other people with the same haplogroup that you don’t match and won’t be reflected on this page.  We’ll see them either in projects or on the Public Mitochondrial Tree in following sections.

Migration Map

The migration map tab shows the path between Mitochondrial Eve who lived in African about 145,000 years ago and your haplogroup today. For haplogroups J, Eve’s descendant left African and traveled through the Middle East and on into Southwest Asia before turning left and migrating throughout Europe.

Clearly, the vast majority of this migration occurred before genealogy, but not all, or you wouldn’t be here today.

Thousands of my ancestors brought my mitochondrial DNA from Africa through Anatolia, through Europe, to Scandinavia, and back to Germany – then on to the US where it continued being passed on for five more generations before reaching me.

Additional Features – Other Tools

On your personal page, scroll down below your Mitochondrial DNA results area and you’ll see Public Haplotrees under the Other Tools tab.

This tree is available to FamilyTreeDNA customers as well as the public.

Public Mitochondrial DNA Haplotree

The public mitochondrial haplotree provided by FamilyTreeDNA includes location information and is available to everyone, customer or not, for free. Please note that only full sequence results were used to construct this tree, so partial results, meaning haplogroups of people who tested at the HVR1/2 levels only, are not included because the haplogroup cannot be refined at that level.

If you’ve received a haplogroup from a different test at another vendor, you can use this public tool to obtain location information. FamilyTreeDNA has the single largest repository of mitochondrial tests in the world, having tested customers for 21 years, and they have made this tree with location information available for everyone.

If you are a customer, you can sign in and access this tree from your account, above.

If you access the haplotree in this manner, be sure to select the mtDNA tree, not the Y DNA tree which is the default.

Or you can simply access the mtDNA the same way as the public, below.

Go to the main FamilyTreeDNA page by clicking here.

On the main page, scroll to the very bottom – yes, just keep scrolling.

At the very bottom, in the footer, you’ll see “Community.” (Hint, if you don’t see Community at the very bottom of this page, you’re probably signed in to your account.)

Click on “mtDNA Haplotree.”

Next, you’ll see the beginning, or root, of the mitochondrial DNA tree, with the RSRS at the top of the page. The tree structure and haplogroups are defined at Phylotree Build 17, here. All of the main daughter haplogroups, such as “J,” are displayed beneath or you can select them across the top.

Enter the haplogroup name in the “Branch Name” field in the upper right. For me, that’s J1c2f.

I don’t match all of the J1c2f people in the database, because there more total country designations shown here (82) than I have full sequence matches with locations provided (50 from my Ancestral Origins page.)

If you click on the three dots at right, you’ll see a Country Report which provides details for this haplogroup and downstream haplogroups, if there are any. I wrote about that, in detail, here.

There are no “J1c2f plus a daughter” haplogroups defined today, so there is nothing listed downstream.

However, that’s not always the case. There may be a downstream clade that you’re not a member of, meaning you don’t carry that haplogroup-defining mutation.

Or, you may have tested someplace that provides you with a partial haplogroup, so you don’t know if you have a subclade or not. You can still glean useful information from partial haplogroups.

Partial Haplogroups From Autosomal Tests

There’s nothing “wrong” with partial haplogroups. It’s nice to know at least some history about your matrilineal ancestry. What you don’t receive, of course, aside from matching, is more recent, genealogical, information.

Both 23andMe and LivingDNA provide autosomal customers with partial mitochondrial haplogroups. Both of these vendors tend to be accurate as far as they go, as opposed to other vendors, who shall remain unnamed, that are often inaccurate.

Autosomal tests don’t specifically test the mitochondrial DNA directly like a full sequence mitochondrial DNA test does, but they do use “probes” that scan specific haplogroup defining locations. Of course, each of the autosomal chips has a finite number of locations and every location that is used for either mitochondrial or Y DNA haplogroups is a space the vendors can’t use for autosomal locations.

Therefore, customers receive partial haplogroups.

In my case, I’ve received J1c at LivingDNA and J1c2 at 23andMe.

Both vendors provide basic information about your haplogroup, along with migration maps. Wikipedia also provides basic haplogroup information. Google is your friend – “mitochondrial haplogroup J Wikipedia.”

DNA Projects

Most haplogroups have a DNA project at FamilyTreeDNA. Note that these projects are administered by volunteers, so your mileage will vary in terms of participant grouping, along with whether or not results or maps are displayed. You can just google for “mitochondrial haplogroup J DNA project at FamilyTreeDNA” and you’ll find the project or perhaps multiple projects to select from. Some haplogroups have a main “J” project and perhaps a subproject, like “J1c,” for example.

You can join the project, either from this page if you’ve tested at FamilyTreeDNA, or from your personal page via the “myProjects” tab at the top of your personal page.

If you’re looking for public haplogroup information, click on “DNA Results.”

If the Haplogroup J DNA testers have joined this project, authorized displaying their results in projects, and provided ancestor information, you will be able to see that on the “Results” page. Projects are often grouped by haplogroup subgroup. Please note that the default page display size is 25, so scroll to the bottom to see how many pages are in the project. Multiply that number times 25 (182 pages total X 25 = 4550) and change the page display size to that number (4550, in this case.)

One of the most useful tools for haplogroup discovery is the project map which offers the same subgroups as the project groupings.

You can select “All” on the dropdown to display the locations of the earliest known ancestors of everyone in this haplogroup project, or you can select a subclade. This map is displaying haplogroup J1c2 as an example of my partial haplogroup.

The Public Mitochondrial Tree and Partial Haplogroups

To find more comprehensive information for partial haplogroups, I can use the free mitochondrial tree at FamilyTreeDNA. While projects only reflect information for people who have joined those particular projects, the tree provides more comprehensive information.

Anyone with a partial haplogroup can still learn a great deal. Like with any haplogroup, you can view where tester’s ancestors lived in the world.

In this case, it doesn’t matter whether I’m looking at partial haplogroups J1c or J1c2, there are many subgroups that I could potentially belong to.

In fact, haplogroup J1c has subclades through J1c17, so there are pages and pages of haplogroup subclade candidates.

Does a Full Haplogroup Really Matter?

How much difference can there be? Is J1c or J1c2 good enough? Good questions.

It depends – on what you want to know.

  • For general interest, perhaps.
  • For genealogy, no.

Genealogists need the most granular results possible to obtain the most information possible. You don’t know what you don’t know. But how much might that be, aside from full sequence matches?

There’s a significant difference in the country details of haplogroup J1c, J1c2 and J1c2f. I created a chart of the top 10 locations, and how many people’s ancestors are found there for J1c, J1c2, and J1c2f.

Wow, that’s a big difference.

How accurately do J1c and J1c2 results reflect the locations in my full J1c2f haplogroup? I color-coded the results and removed the locations from J1c and J1c2 that are not reflected in J1c2f.

As it turns out, the 5 most frequent locations in J1c and the top 3 locations in J1c2 aren’t even in the top 10 of J1c2f. Obtaining a full haplogroup is important.

Current and Past Populations

It’s worth noting that where a current population is found is not always indicative of where an ancestral population was found.

Of course, with genealogy, we can look back a few generations by seeing where the ancestors of our close and distant matches were found.

My earliest known ancestor is found in a marriage record in 1647 in Wirbenz, Germany when she was 26 years old. However, the majority of my exact mitochondrial DNA matches are not found in Germany, or even in Europe, but in Scandinavia. I’m sure there’s a story there to be told, possibly related to the Thirty Years’ War which began in 1618 and devastated Germany. The early German records where she lived were destroyed.

Even in the abbreviated genealogical timeframe where records and surnames exist, as compared to the history of mankind and womankind, we can see examples of population migration and shift with weather, warfare, and opportunity.

We can’t peer further back in time, at least not without ancient DNA, except by a combination of general history, haplogroup inference, and noting where branching from our mother clade occurred.

We know that people move. Sometimes populations were small and the entire population moved to a new location.

Sometimes, the entire population didn’t move, the but descendants of the migrating group survived to take DNA tests, while the population remaining in the original location has no present-day descendants.

Sometimes descendants of both groups survived.

Of course, throughout history, mutations continued to occur in all lines, forming new genetic branches – haplogroups.

Thank goodness they did, because mutations, or lack thereof, are incredibly important clues to genealogy as well as being our breadcrumbs back into the mists of distant time. Those haplogroup-defining mutations are the umbilical cord that allows us to connect with those distant ancestors.

These tools, especially used together, are the best way to answer the question, “Where did my Mitochondrial DNA Haplogroup Come From?”

Where did your haplogroup come from?

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

DNA Day: Forty Years On and We’re Still Shaking The Tree!

Genealogists are always excited when DNA Day in April arrives because it means two things:

  • Celebrating DNA
  • Sales

This year we have a 40th anniversary to celebrate along with some great sales.

Those of you who know me already understand how excited I am about the powerful combination of genetics and genealogy. Yes, I’m a science/genealogy nerd and I’m also one of the scientists working on the Million Mito Project – the next generation of mitochondrial DNA.

We’re pushing that envelope and you’ll be the beneficiary.

So please forgive me if my excitement spills over for a bit here. Let’s celebrate together!

The Beginning – Mitochondrial DNA

Mitochondrial graphic courtesy Dr. Paul Maier Copyright 2021 all rights reserved

Mitochondrial DNA, the DNA all humans inherit from their mother in a direct matrilineal line was first sequenced in 1981 at Cambridge University using the DNA of an anonymous volunteer. We know today that the volunteer whose DNA was used for that reference sample carried mutation values that eventually placed them in haplogroup H2a2a1. Of course, haplogroup H2a2a1 didn’t exist back then and has slowly evolved over the years as we learn more and updates to the tree occur.

That volunteer’s sequence of mutations was organized to form basic haplogroups, a genetic breadcrumb history that provides links both backward in time to our distant ancestors and forwards in time to us today. Comparing our mitochondrial DNA to other testers is genealogically relevant and can help break through brick walls. But that next chapter, genealogy, wouldn’t begin until the year 2000 when both Oxford Ancestors and FamilyTreeDNA introduced direct-to-consumer testing.

For 31 years after that initial discovery, everyone would be compared to the Cambridge Reference Sequence, the CRS.

Scientists didn’t know at the time, of course, but using the DNA of a person whose haplogroup was formed about 3500 years ago would make it challenging to correctly place people whose haplogroup was formed sometime between Mitochondrial Eve, our founding mother, and the haplogroup H reference sequence.

Think of it as trying to measure someone’s height when measuring from their shoulders up. You can do it, but you need to compensate for not measuring from the floor to the top of their head in one step.

Mitochondrial Eve lived about 150,000 years ago in Africa and was the founder of haplogroup L who eventually gave birth to all of the rest of the haplogroups in the world through haplogroups M and N who migrated out of Africa.

Courtesy FamilyTreeDNA

In 2012, a second comparison methodology, the Reconstructed Sapiens Reference Sequence (RSRS) was published in the landmark paper, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, written by Behar et al.

The RSRS version of the tree defined branches beginning at the base with Mitochondrial Eve, the first woman who lived in African and has survivors today, and provided estimated dates of when individual haplogroups were formed in a supplement to the paper. In other words, the RSRS measured height, or the genetic distance from Eve to us, from the floor up.

Today, there is still no universally accepted standardization in reporting, in part because the earlier papers are still relevant and utilize the older CRS methodology. Different academic papers reference the CRS or the RSRS, and FamilyTreeDNA, the only company that tests the full sequence and provides matching for genealogy, reports both versions for customers.

click to enlarge graphics

I find the RSRS more relevant for genealogy, because it’s much easier to see and identify our extra and missing mutations which are the seeds of future haplogroups.

While the original scientific mitochondrial DNA paper from 1981 is behind a paywall, here, I found another article, Mitochondrial DNA published in the magazine, The Science Teacher, that’s free, here.

With Build 17 of the mitochondrial tree, published in 2016, more than 5,400 haplogroups were defined using 24,275 samples. You can view the defining mutations by haplogroup, here, or on Phylotree, here.

Many more samples are available now, and the tree is in desperate need of an update, but that update needs to be a scientific reevaluation, not just adding to the tips of the branches.

In February of 2020, the Million Mito Project was launched which will use more than a quarter-million samples, with a goal of a million, to rewrite the Tree of Womankind. Samples are included from:

  • FamilyTreeDNA
  • Genographic Project participants who opted in to scientific research
  • Academic samples

You can watch a short video about the Million Mito Project produced by yours truly, here. I’ll have more information on this topic, soon.

I put together a Mitochondrial DNA resource page, here, with everything you’ve ever wanted to know and then some😊

Individuals can particulate in the Million Mito Project (MMP) by taking the mitochondrial DNA test at FamilyTreeDNA. Academic institutions can participate by uploading research samples to GenBank and contacting a member of the research team.

1981 Was Just the First Baby Step

Of course, the sequencing of mitochondrial DNA 40 years ago was just the beginning of our genetic journey. The first 20 years was spent building the foundation for consumer testing. This second 20 years has been the express-train ride of a lifetime.

Today, we’re shaking that tree harder than ever! Man alive, has it ever produced too – ancestors, surprises, confirmation of paper trails, new cousins and so much more. We’ve learned, and are continuing to learn about the genetic journey of our ancestors that was entirely unavailable to us before genealogists embraced DNA testing.

Every year we celebrate DNA Day by testing our DNA and by reviewing our matches to see what they reveal about our own personal journey and those of our ancestors. New matches arrive all the time. The key is to:

  • Take each kind of DNA test.
  • Test relatives. Their matches are critical to our shared ancestral genealogy.
  • Find relatives to represent Y and mitochondrial DNA of ancestors whose Y and mitochondrial DNA we don’t’ carry.
  • Check back often to see what new matches have appeared, and what hints and secrets they might hold. If the key to that brick wall has arrived, and you don’t check, you’ll never know!

Take that test! Upgrade if that’s an option for either Y or mitochondrial DNA for yourself, and test your autosomal DNA or transfer to all of the four major companies. Fish in all the ponds. You don’t know where that fish you need is living.

Step-by-step upload-download instructions are here for every vendor.

Don’t forget about testing your relatives that share all of the same ancestors that you do – aunts, uncles, grandparents. They will have matches that you don’t.

DNA Day Sales

Not all vendors are offering DNA Day sales, at least not yet, but FamilyTreeDNA and MyHeritage have great sale prices, shown below.

FamilyTreeDNA

Of course, FamilyTreeDNA sells three types of DNA tests for genealogy, Y DNA (direct paternal surname line for males only, mitochondrial DNA (direct matrilineal line for both sexes), and the Family Finder autosomal test (all lines for everyone), so they have more products to discount.

Please note that the autosomal transfer advanced tool unlock is only $9 right now. The unlock provides access to your myOrigins results (ethnicity) and AncientOrigins along with the chromosome browser if you uploaded your DNA from another vendor. The unlock seldom goes on sale and $9 is a great price. How many tests have you transferred and not yet unlocked?

If you’ve taken an earlier Y or mitochondrial DNA test at a lower level, you can upgrade – and upgrades are on sale too.

Have you been waiting to order that Big Y upgrade? Now’s the time!

You can click right here to order, upgrade or unlock a transfer.

MyHeritage

MyHeritage’s autosomal DNA test is on sale until the 25th for $59 with free shipping if you purchase 2 or more tests.

MyHeritage recently added another new feature for their DNA customers – Shared Ethnicities and Genetic Groups.

When you click to compare your information with a match, you can scroll down to see common ethnicities and Genetic Groups that you share with that person.

You can see that I share a small amount of indigenous American DNA with this person.

Is this important? I don’t know. It might be and it’s up to me as a genealogist to run with this ball and see what I can uncover.

Shared Genetic Groups may make finding common origins with your DNA matches even easier. The person with whom I share that indigenous ancestry also has ancestors from Appalachia. Hmmm, now I need to see who else I match in common with this person. I’m pretty sure, just based on this, that they match on my father’s side.

You can click here to check out your common ethnicities or genetic groups at My Heritage, or to order tests for family members whose results will help you unravel your matches.

Don’t forget, if you’ve already tested elsewhere, you can click here to easily upload to MyHeritage for free matching and just pay the $29 unlock for their advanced tools including the chromosome browser, ethnicities, Genetic Groups, clustering and triangulation.

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

How to Download Your DNA Matching Segment Data and Why You Should

There are two or three types of data that testers may be able to download from DNA testing sites. Genealogy customers need to periodically download as much as possible.

  1. Raw data files needed for transferring DNA files from the company where you tested to other testing or analysis/comparison sites such as FamilyTreeDNA, MyHeritage, and GEDmatch for matching and other tools.
  2. Matching segment files which detail your matches, segment by segment with people whom you match.
  3. Match information files that provide you with additional information about your matches. What’s included varies by vendor.

This type of information is not uniformly available from all vendors, but is available as follows:

Vendor Raw Data File Matching Segment File Match Information File
FamilyTreeDNA Yes Yes Yes
MyHeritage Yes Yes Yes
23andMe Yes Yes Yes
Ancestry Yes No No
GedMatch Not a testing company, so no Yes Yes

I have provided step-by-step information about how to download your raw DNA data files and upload them to other vendors in a series of articles that you can find here.

Some of the answers in the table above need caveats because each vendor is different. Let’s take a look.

Matching Segment Files

In this article, I’ll provide information about how to download your matching segment and match information file(s).

Unfortunately, Ancestry does not provide any segment data at all, nor do they provide a way to download your match information. Third-party tools that did this for you have been banned by Ancestry, under threat of legal action, so this information is no longer available to Ancestry customers.

You can’t obtain this information from Ancestry, but you can transfer your DNA file to other vendors such as FamilyTreeDNA, MyHeritage and the third-party site, GEDmatch where you’ll receive additional matches. Some Ancestry matches will have transferred elsewhere as well, and you can take advantage of your matching segment information.

Why Do I Want a Matching Segment File?

The matching segment file provides you with information about exactly how and where you match each person.

Here’s an example that includes the match name, chromosome, start and end location of the match along with the total number of CentiMorgans (cM) and total SNPs in the matching segment. Your matching segment file consists of hundreds/thousands of rows of this information.

Determining who matches you on the same segment is important because it facilitates the identification of common ancestors. Segment matching is also the first step in triangulation which allows you to confirm descent from common ancestors with your matches.

I wrote about triangulation at each vendor in the following articles:

Matching and Triangulation help you sort out legitimate matches, and which ancestors that DNA segment comes from.

Sorting For Legitimate Matches

On each segment location of your DNA, you will match:

  • People from your Mom’s side
  • People from your Dad’s side
  • People that are identical by chance (IBC) where they match you because part of the DNA from your Mom’s side and part from your Dad’s side just happens to look like their DNA (or vice versa.)

You can see how matching works in this example of 10 DNA locations. You inherited half of your Mom’s DNA and half of your Dad’s.

  • Legitimate maternal matches to you on this segment will have all As in this location.
  • Legitimate paternal matches to you will have all Cs in this location.
  • Identical by chance matches will match you, because they have the same DNA as both of your parents that you carry – interspersed. They will not match either of your parents individually.

IBC matches DO technically match you, but accidentally. In other words, they are identical by chance (IBC) because they just happen to match the DNA of both of your parents intermixed. Conversely, you can match the DNA of their parents intermixed as well. Regardless of why, they are not a legitimate maternal or paternal match to you.

For example, you can see that the identical by chance (IBC) match to you, above, won’t match the legitimate maternal or legitimate paternal matches.

When comparing your matches on any segment, you’ll wind up with a group of people who match you and each other on your maternal side, a group on your paternal side, and “everyone else” who is IBC.

I wrote about IBD, identical by descent DNA and IBC, identical by chance DNA and how that works, here.

A downloadable segment match file allows you to sort all of your matches by chromosome and segment. That’s the first step in determining if your matches match each other – which is how to determine if people are legitimate matches or IBC.

Additionally, these files allow you to utilize features at DNAPainter along with the tools at DNAGedcom and Genetic Affairs.

Match Information File

There’s a second file you’ll want to download as well except at 23andMe who includes all of the information in one file. You’ll want to download these files from each vendor at the same time so they are coordinated and include the same matches from the same time.

Downloading the second file, your match information, provides additional information which will be helpful for your genealogy. The information in this file varies by vendor, but includes items such as, but not limited to:

  • Tree link
  • Haplogroup
  • Match date
  • Predicted Relationship Range
  • Actual Relationship
  • Total shared cM
  • Longest segment cM
  • Maternal or paternal bucket (FamilyTreeDNA)
  • Notes
  • Email
  • Family Surnames
  • Location
  • Percent of shared DNA

You never know when vendors are going to change something that will affect your matches, like 23andMe did last fall, so it’s a good idea to download periodically.

Downloading your segment match and match information files are free, so let’s do this.

Downloading Your Segment Match & Information Files

FamilyTreeDNA

Sign on to your account.

click images to enlarge

Under your Family Finder Autosomal DNA test results, click on Chromosome Browser.

On the chromosome browser page, at the top right, click on Download All Segments.

Caveat – if you access the chromosome browser through the Family Finder match page, shown below, you will receive the segment matches ONLY for the people you have selected.

After selecting specific matches, as shown above, the option on the chromosome browser page will only say “Download Segments.” It does NOT say “Download All Segments.”

Clicking on this link only downloads the segments that you match with those people, so always be sure to access “Download ALL Segments” directly through the chromosome browser selection on your Autosomal DNA Family Finder menu without going to your match page and selecting specific matches.

The segment download file includes only the segments, but not additional information, such as which side, maternal or paternal, those matches are bucketed to, surnames and so forth. You need to download a second file.

To download additional information about your matches, scroll to the very bottom of your Family Finder match page and click on either Download Matches or Download Filtered matches. If you’ve used a filter such as maternal or paternal, you’ll receive only those matches, so be sure no filters are in use to download all of your matches’ information.

Your reports will be downloaded to your computer, so save them someplace where you can find them.

MyHeritage

Sign in to your account and click on the DNA tab, then DNA Matches.

At the far right-hand side, you’ll see three little dots. Click on the dots and you’ll see the options to export both the entire DNA Matches list and the shared DNA segment info for all DNA Matches.

You’ll want to download both. The first file Is the DNA matches list.

To download your segment matches, select the second option, “Export shared DNA segment info…”

Your files will be emailed to you.

23andMe

At 23andMe, sign on to your account and click on “DNA Relatives” under the Ancestry tab.

You’ll see your list of matches. Scroll to the very bottom where you’ll see the link to “Download aggregate data.”

23andMe combines your segment and match information in one file.

Remember that at 23andMe, your matches are limited to 2000 (unless you’re a V5 subscriber), minus the number of people who have not opted in to Relative Sharing. Additionally, there will be a number of people in the download file whose names appear, but who don’t have any segment data. Those people opted-in to Relative Sharing, but not to share segment information.

For example, my download file has 2827 rows. Of those, 1769 are unique individuals, meaning that I have matches with multiple segments for 1058 people. This means that of my 2000 allowed matches, 231 (or more) did not opt-in for Relative Sharing. The “or more” means that 23andMe does not roll matches off the list if you have communicated with the person, so some people may actually have more than 2000 matches. It’s impossible to know how 23andMe approaches calculations in this case.

Of those 1769 unique individuals on my match list, 257, or 15% did not share segment information. I’d sure like for those to be automatically rolled off and replaced with the next 257 who do share. 1512 or roughly three-quarters, 75%, of my 2000 allowed matches are useful for genealogy.

Initially, when 23andMe made their changes last fall, they were reportedly limiting the download file number to 1000, but they have reversed that policy on the V3 and V4 chips. I downloaded files from both chip versions to confirm that’s true.

I don’t have the V5 chip subscription level, nor am I going to retest to do that, so I don’t know if V5 subscribers receive all 5000 of the allowed matches in their download file.

This is the perfect example of why it’s a good idea to download your match files periodically. 23andMe is the only testing vendor that restricts your matches and when they roll off your list, they are irretrievable.

Aside from that, safe is better than sorry. You never know when something will change at a vendor and you’ll wish you had downloaded your match files earlier.

GedMatch

GedMatch, a third-party vendor, provides lots of tools but isn’t intuitive and provides almost no tutorial or information about how to navigate or use their site. There are some YouTube videos and Kitty Cooper has written several how-to articles. GEDmatch has promised a facelift soon.

GEDmatch provides many tools for free, along with a Tier1 level which provides advanced features by subscription.

At GEDmatch, you can see up to 2000 matches for free, but you must be a Tier 1 subscription member to download your matches – and the download is restricted to your top 1000 matches.

There are two Tier 1 one-to-many comparison options that are very similar. For either, you’ll enter your kit number and make your selection. Given that you’re restricted to 1000 in the download, there is no reason to search for more than 1000 kits.

click to enlarge

Then, click on Visualization options

You will then see the list of visualization options which includes “List/CSV.”

Clicking on “List/CSV” provides you with options.

click to enlarge

You’ll want to select the Matched Segment List, and you can either select “Prevent Hard Breaks,” or not. Allowing hard breaks means that small non-matching regions between two matching segments is not ignored, and the two segments are reported as two separate segments – if they are large enough to be reported.

If you prevent hard breaks, non-matching regions of less than 500,000 thousand base positions are ignored, creating one larger blended segment. It’s my preference to allow hard breaks because I’ve seen too many instances of erroneously “blended” segments.

When your matching segment file is complete, you will be prompted to download to your computer.

Thanks to Genetic Affairs, I discovered an alternate way to obtain more than 1000 downloaded matches from GEDmatch.

GEDmatch Alternative Methodology

Genetic Affairs suggests using the DNA Segment Search with a minimum of 5000 kits, and to enable the option to “Prevent Hard Breaks.”

Do not close the session while GedMatch is processing or you’ll need to restart your query.

When finished click “Here” to download the file to your system.

Now you’re ready for part 2.

Next, you’ll want to select the Triangulation feature.

These functions take time, so you’ll be watching as the counter increases. Or maybe go eat dinner or research some genealogy.

I can hear the “Jeopardy countdown music

When finished, click on “Here” to download this second file.

Whew! Now you should have your segment and match information files from each company that supports this information and provides downloads.

Saving Files

I generally save my files by vendor and date. However, if you’re going to use the files for a special project – you may want to make a copy elsewhere. For example, I’m going to use these files for Genetic Affairs’ AutoSegment feature, so I’ve downloaded fresh files from each vendor on the same date and made a separate copy, stored in my Genetic Affairs folder. I’ll let you know how that goes😊

Bottom Line

  • Test at vendors that don’t accept transfers. Ancestry and 23andMe
  • Test at or transfer to the rest. FamilyTreeDNA, MyHeritage and GEDmatch
  • Unlock or subscribe to the advanced tools that include chromosome browsers, ethnicity, and more, depending on the vendor. FamilyTreeDNA, MyHeritage, GEDmatch
  • Upload or create trees at each vendor (except 23andMe who doesn’t support trees.)
  • Download as much information as you can from each vendor.
  • Work your matches through shared (in common with) matches, trees, segments, and clusters!

Have fun!!!

_____________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research