All About AI – What It Is, What It Isn’t, and Why It Matters

This is the second article in the AI series. The first, Your Wonderful AI Assistant – Sometimes Wrong, Never Unsure, Always Convincing, explains why I’m writing this series and what to expect. I suggest that you read these articles in publication order, as they build on each other.

AI is neither inherently good nor bad. The outcome depends on:

  • How it is used
  • By whom
  • Capabilities of the (ever-changing) tools themselves
  • The understanding level of the “requester” and the “consumer,” both
  • Safeguards applied or neglected

About AI

Let me start by saying that I don’t love AI, and I don’t hate it. I’m neither an evangelist nor a doomsayer. I’m a realist. AI is a powerful tool, capable of remarkable things and spectacular failures. Understanding the difference and interacting appropriately are the keys to success or failure.

AI is simply a tool, and like all tools, it can be used for good or evil. AI has the potential to, and does, in some cases, make our lives easier. However, the bad guys and miscreants saw that potential early and have perfected it.

AI is all around us, whether you realize it or not, so don’t think you can just avoid it, because you can’t. AI exists in many forms and is here to stay. We need to educate ourselves so we can reap some of the benefits and avoid the pitfalls.

Education and increased vigilance are the only ways to protect yourself, and I mean vigilance incorporated into the very fiber of your being. No more, “that looks interesting” and clicking without thinking. It’s so easy to do.

When I talk about AI safety, I’m referring to two types of safety.

  1. Using AI tools for reliable results, and how to determine when you’re receiving or consuming something questionable. AI failures occur often and are both irritating and misleading, but not always obvious.
  2. Literally protecting yourself from danger. This includes recognizing when AI is being used without your knowledge and how to protect yourself in the new threat landscape. I am not overexaggerating.

Unfortunately, AI safety is a sliding scale, progressing from one end of the spectrum to the other. There’s not always a clear delineation between correct and incorrect, safe and unsafe, or between different types of AI. As I am wont to say, “It depends.”

Learning about AI, both in general and in specific contexts, is critical. Not yesterday’s AI – but AI right now, because both the AI tools and AI’s capabilities are changing at lightning speed.

We all need to up our game and retrain ourselves to always stop and think first.

AI and You

There are essentially three ways people encounter or interact with AI.

  1. You’re actively using AI as a tool, such as ChatGPT, Claude, Gemini, or others. This is generally safe from an actual danger or “threat” perspective, particularly because you are in the driver’s seat. However, there are aspects you need to be aware of – especially if you’re a novice. I’ll explain methodologies to use AI to (hopefully) increase your productivity and save you from following AI into the underbrush of falsehoods, inaccuracies, and misplaced confidence. In other words, so you don’t have to say, “Wow, was I ever an idiot,” too often.
  2. You’re unknowingly interacting with AI. Sometimes this is fine, but it can open the door to inadvertent reliance on incorrect information and therefore various forms of harm. Sometimes, harm rises to the level of actual danger. Understanding when you’re interacting with AI, understanding its limitations, and recognizing danger signs are important aspects of staying safe.
  3. The AI threat landscape. AI can be dangerous and used against you. I mean screaming-red-neon-flashing-sign hair-on-fire dangerous, and I’m going to explain this new threat landscape and how to improve your chances of being safe, primarily in the final article of this series.

I Use AI, But There Are Limits

I hold a graduate degree in Computer Science and have years of experience in the technology industry where security is both essential and critical. That background, while preparing me generally, cannot prepare one for the situations and well-hidden threats we now encounter every day. Being overconfident and overreliant on prior experience is foolhardy and a sure way to get burned.

The one thing that’s constant in the computer industry is change. The underlying fundamentals remain the same, but everything else changes – and AI is morphing rapidly.

I’ve been using AI since the beginning in a very restricted, measured way. I use AI regularly, tactically, and cautiously, with huge guardrails. I started out by taking classes from Mark Thompson and Steve Little, AI experts in the genealogy space, to learn how to use AI productively. That was a couple of years ago, and the entire landscape has changed since then. I make it a priority to stay current.

In the next article about using AI safely, I’ll share recommendations for training and education from Mark and Steve.

AI tools are trying to emerge from their terrible toddler stage and morph into early teens, but they relapse a lot! Sometimes AI is very helpful, sometimes wrong, and often frustrating – interspersed with amazing victories where AI helps us immensely.

Unfortunately, often it’s almost impossible to tell which is which.

Inspired by a posting in the Facebook group, Genealogy and Artificial Intelligence. Image is AI generated and appropriately labeled as such.

Here’s the caveat – I know I’m using AI. I’m not accidentally interfacing with a Chatbot, thinking it’s a human. I’m not reading something someone else posted and believing I’m reading about an experience that’s true – when it’s AI-created fiction. The question, of course, at that point, is WHY someone created it and posted it in a way that conceals its true origins.

My AI usage is intentional. I know how to be vigilant, generally what AI can and can’t do, and that I absolutely positively MUST fact-check everything. Often, I inadvertently push the limits of AI, thinking it can perform more than it can accurately, which is another reason everything must be checked. As genealogists, verifying sources should be second nature.

If you’re going to use AI, it’s essential that you do the same thing.

So, what, exactly, is AI?

What is Artificial Intelligence?

This is really a difficult question to answer, because AI has been more of a slow evolution, followed by a rapid acceleration of technology – not a specific “thing.” That acceleration occurred when standalone AI tools like ChatGPT, which we know are AI because they are specifically called that, were introduced and made available to the consuming public.

We’ve been using computers for decades now, assisting us on platforms from mainframes to PCs to tablets. Today, our phones are more powerful and useful than early mainframes.

AI is the latest in the cadre of applications, a type of tool that can either stand alone or be embedded in other software tools for specific tasks. Think Chatbots for business websites.

While AI is beginning to be “everywhere,” it’s not a universal scapegoat.

Two years in, AI is being blamed for everything. While AI does make a lot of mistakes, many issues aren’t a result of AI, and it’s not fair to presume they are. Let me give you two examples of what is and is not AI.

  • Not AI – Someone tried to enter text, meaning alphabet, in a field meant exclusively for numbers, like a month field that’s supposed to be a number and not the month name. The person was angry because “AI was wrong” and prevented the erroneous entry. First, it wasn’t wrong, and second, it wasn’t AI.

One of the earliest computer uses was to parse date fields and ensure that the “right thing” was being entered in the correct place. In this case, a numerical month, not the month name. That’s not AI. That’s just plain old-fashioned programming error-checking that’s been a part of software for decades. The program was performing exactly as it was intended.

  • AI – I submitted a spreadsheet to ChatGPT and instructed it to move all of the data in cells in column A that are entirely numeric to the same row in Column B, and to leave everything that contains any alphabetic characters where it is in column A. That’s AI, both because I’m using a known AI tool, and it’s processing my instructions to produce output that did not exist before.

The above image is what I wanted. I completed this by hand to show you what I had in mind. Working by hand is fine with 8 rows of data, but it wouldn’t be fine with 1000 rows, or more. That’s when you need a tool.

What could go wrong? Plenty.

Let’s say that I didn’t provide specific instructions and a cell contained mixed alpha and numeric, like Jane2. Or, if the tool just plain messed up because of some other unknown reason – such as the file being too long, or it misinterpreted an instruction. That’s why you have to verify everything.

With AI, it’s always some variant of the wild west frontier.

Next, I submitted my Before and After spreadsheet, above, and instructed ChatGPT to “Please put this in a chart and make it pretty.”

This is exactly what I received.

I didn’t receive what I wanted, because I didn’t tell the AI tool specifically what I wanted (spacing, color, font, size), and what I didn’t want. This isn’t a problem with the AI tool, it’s a problem with the instructions provided by the “driver.” AI is not a mind-reader, at least not yet.

Hint: When I don’t receive what I wanted, I tell ChatGPT what I wanted and ask it why I didn’t receive that, and what instructions I could provide differently. In this case, I learned that it can’t “discern colored text” (red) and only sometimes can “see” bolding.

This was a very simple comparison of AI versus non-AI. Of course there are endless variations, but in general, AI does something that produces something new or different or in another format – based on conversational instructions.

Examples of what AI can do well:

  • Take notes and summarize online meetings
  • Organize information into outline format
  • Suggest structure
  • Proofread and sometimes provide editing suggestions
  • Suggest places to look for additional information
  • Translate, transcribe and summarize both typewritten and handwritten documents, in multiple languages

Every one of these comes with a caveat. AI can always be wrong. Like any helper or intern, it’s up to us, as the responsible party, to be, well, responsible by monitoring and verifying everything.

Being wrong in places does not mean the tool isn’t useful. AI can transcribe an entire document in seconds, but I need to proofread it against the original. That’s a significant time savings for me. AI can then assist with the logic of how people are related to each other. That doesn’t mean it’s accurate, but it’s a place to start.

We have to learn how to communicate with our intern in a way it can understand to (hopefully) receive the output we want, and we have to confirm that it is.

The more difficult and complex the task, the more difficult the verification.

GIGO

The overarching theme for all computer data is GIGO – garbage in, garbage out. I know everyone can think of hundreds of examples that have absolutely nothing to do with AI. It’s the same now, but on steroids because we add the layers of:

  • Our instructions to AI, which may or may not be as thorough as we thought
  • AI interpreting what it thought we said, according to its internal rules and limitations that we don’t understand
  • AI manipulating data and producing output on our behalf

Additionally, when we ask AI to gather information about something, it can only gather what it can see. For example, some AI tools cannot reliably open weblinks, while others can. Some, like Google have internal routines to rank sites that are more reliable and accurate, and other tools do not.

Asking your AI tool for it’s sources so you can evaluate the GIGO factor is essential too.

Drinking From the Firehose

You might think AI is completely new, but it really isn’t. What’s new is the label of AI and consumer-based products where you get to be the driver.

Think of AI as the big umbrella.

In the past decade or so, artificial intelligence models have been slowly being developed, often for specific use cases. Machine learning models that are self-teaching are good examples. Genetic imputation to equalize autosomal DNA files produced by different vendors before matching is a specific use case.

Traditional programming is very specific and instructs, “If X, then Y.” Imputation, within a limited range of options, says, “Based on X, I think Y is most likely next character.” Machine learning learns by example. AI is the next generation where answers to questions are not hard-coded or self-learned in the same way.

With AI, one could interact and say, “Based on X, what do you think is next, and why?” The answer would be conversational, and would explain how the AI tool got to the result of Y. That doesn’t mean Y is accurate.

Before AI, consumers had never been in the driver’s seat, with the ability to query computers easily about anything with no programming needed – receiving conversational answers in their language of choice. Answers that are hopefully accurate.

Back in 2011, Siri became available, Amazon Alexa in 2014, and Google Assistant in 2016, but these were all command driven with a restricted vocabulary and could only perform limited actions.

In October 2022, ChatGPT introduced us to a new world, triggering the AI boom. By late 2023 and early 2024, suddenly the term AI, artificial intelligence, snowballed and was everywhere. The early versions of AI tools could only do a fraction of what they can in 2026, and could not perform tasks on your behalf.

ChatGPT prompt: “Make me a fun goofy picture with a cat that illustrates the ability of AI to make a fun goofy picture.”

Today that has all changed and it seems like everyone is making goofy pictures for fun.

Artificial Intelligence is NOT Intelligent

Let me say this loudly – artificial intelligence is not intelligent!

AI is a computer – electronic pulses in a data center somewhere. AI is trained to gather massive amounts of data, distill it in specific ways, and then, using various types of skills, interact with humans in a helpful manner. “Helpful” depends on perspective.

This field, as a whole, is really still in its infancy. That’s both the bad news and the good news.

AI tools are “new,” exciting, and frightening all at once. AI has enormous potential, but it also creates opportunities for misuse, deception, and unintended consequences.

I’m not referring to water and electricity consumption and the impact of building thousands of data centers on the environment. I’ll let you decide for yourself on that one.

Risks include:

  • Frequent errors
  • GIGO
  • Results being presented overconfidently by the AI agent
  • Faulty results being believed by the consumer (that’s you and me) with the same level of overconfidence, and without verification
  • Social engineering – meaning the manipulation and influence of people by bad actors
  • Extremely dangerous, highly malicious manipulation and applications in ways not possible before

The entire AI landscape is complicated by a lack of public understanding and made even more challenging by the extraordinary pace of this technology’s evolution.

Multiple Types of AI

There are multiple types of AI, ranging from Machine Learning models to full-blown Generative AI that creates goofy cat images for you. For the most part, today, we’re talking about LLMs and Generative AI.

Large Language Models, called LLMs, are artificial intelligence tools, like ChatGPT or Claude, that are designed to process human-like text or speech and generate output in the same way. AI doesn’t just give you a list of resources that you evaluate yourself, like a search engine; it gives you an “answer” (such as it is), writes text, and has an interactive “conversation” with you.

How does that happen?

The AI tool at the data center aggregates and amalgamates data based on your input and its training, then predicts the words most likely to come next, in what context, and how those words relate to each other.

That’s how AI forms an “answer.”

This is how and why AI, specifically LLMs, can write essays on a topic, create entirely fictitious but highly engaging social media postings and stories that aren’t presented as “stories,” but as someone’s personal experiences, meaning as “truth.”

AI, or the people who generated that AI script, or both, present fictional results with great confidence, often beautifully, and far more convincingly than humans.

This is where it’s important to differentiate between the tool itself, and the “driver,” meaning the human that’s prompting the AI tool.

  • The driver needs to prompt AI correctly and verify the output.
  • AI, the tool itself, sometimes generates incorrect information, often regardless of the prompts provided by the driver.
  • Sometimes the AI tool performs exactly as instructed, but the driver requested something “improper.” By improper, I don’t mean inadvertently or by accident.
  • Sometimes the human is unethical.
  • AI isn’t a sentient being and doesn’t understand the difference.

The human decides what to do with AI-generated results. Many times, AI-generated text, recognizable by word patterns or other characteristics (today), is posted to social media as “original” or factual, and contains incorrect information.

This is often referred to as “AI slop,” as one of the nicer terms, especially by those of us who increasingly find incorrect but convincing AI slop posted as “helpful information” and positioned as “expert,” even though it contains substantial inaccuracies.

Worse yet, very convincing AI slop can easily be generated to part you and your money.

And do I EVER have an example for you that combines AI slop and ethics.

AI SLOP and Ethics

Just two days after our new paper, on which I’m a co-author, Mitotree: The Universal Human Mitochondrial Reference Phylogeny at 10x the Resolution, was published, a company, whose name I’m not including because I don’t want to give it any oxygen or get it indexed with this article, posted a “beautiful” AI poster based on our paper – without our knowledge.

Looks nice, right?

To begin with, it appears for all the world like the authors provided this infographic, which we ABSOLUTELY DID NOT DO. Our names are right at the top. However, our names, as the paper’s authors, lend this “thing” credibility, thereby leveraging our work BOTH unethically and inaccurately.

This AI-generated infographic, although it’s not labeled as such, was created by a third party shortly after the publication of the Mitotree paper. While visually impressive, it contains several scientific inaccuracies, illustrating how quickly and easily authoritative-looking but incorrect content can be created and disseminated.

That’s one of the issues with AI – the beauty and professional appearance of AI-generated “things” encourages unwarranted confidence in the output, when the information is very wrong.

That’s why humans bear the responsibility of BOTH using AI ethically, AND verifying its accuracy. It’s also why, as consumers, we need to question everything.

My biggest issue with this situation isn’t with AI, other than the fact that it generated incorrect output – the issue is with the humans who intentionally created this, using AI. In other words, the drivers.

The infographic doesn’t say they created this incorrect rubbish, and I assure you, they never asked for permission. Then, they published the infographic on their own blog. In case you’re wondering, the company encourages uploads and charges people to get “new results.”

Now for the AI part.

The information IS WRONG and NOT a synthesis of what we published!!!! This infographic shows that all non-L haplogroups descend from haplogroup L4, which is absolutely FALSE.

Haplogroups M and N descend from haplogroup L3, and haplogroup R descends from a subclade of N. You can trust me because I’m one of the paper’s authors, or better yet, you can look for yourself, here, on Discover, or here, here, and here.

That isn’t the only thing that’s wrong, either, but how would normal air-breathing humans, meaning consumers, ever know?

Doesn’t that infographic look professional and convincing, especially if you, as a consumer, didn’t actually check everything on the document – AND its authenticity?

You’d assume legitimacy, right?

If you didn’t know, wouldn’t you be impressed with the expertise of the company that posted this infographic on their blog? And, as a normal consumer, how would you know?

You’d be impressed because you didn’t realize they hijacked someone else’s work, created this “beautiful” infographic, included the authors’ names on something inaccurate that the authors knew nothing about and didn’t endorse, and then published it. All without saying one word indicating that the infographic isn’t the authors’ work, was AI generated, or by whom.

In the past, before generating AI slop was this easy, consumers often presumed that a business was ethical and accurate. Of course that wasn’t always true, but being convincing at first glance is much easier today. Also, presume is related to assume…and we all know the rest of that story.

This is one of the dangerous sides of AI – illustrating how easy it is to deceive people now. It’s increasingly difficult to distinguish between legitimate expertise and fabricated authority. AI has removed that barrier.

You can no longer accept that anything is what it appears to be unless you’re working directly with known, trustworthy entities. The offending company completed that infographic in the click of a button and the blink of an eye, while I hadn’t even finished writing my own article about the paper’s release.

That company wants you to upload your DNA to them so that they can tell you “things” about your DNA. The intention is clear.

Of course, the consuming public, unless they were extremely vigilant, would never figure out either issue – ethics or accuracy.

I had to delete the next paragraph or two that I wrote on the topics of ethics, trust and confidence because I’m still so furious. Hot under the collar doesn’t even begin to describe how I feel about the ethics of misrepresenting something that we authors just spent six years of our lives on. Trust me when I tell you that my internal monologue was both very salty and rather spicy!😊

However, there’s good news. This infographic provides a perfect illustration of both AI slop, how deceptively great it looks, the ethics surrounding AI usage, and how difficult AI is to discern.

In fact, I couldn’t have come up with a better “bad example.”

A six-fingered hand, misspelled words or three arms in an image are obvious, and are yesterday’s AI tipoffs.

A misrepresented phylogenetic relationship or an incorrect founder-clade example is not obvious. Only subject-matter experts would or could notice if they were focused and paying attention.

That’s the problem in a nutshell.

The infographic wasn’t obviously wrong. It was convincingly wrong.

And convincing wrongness is far more dangerous than ridiculous wrongness, like six fingers, because most readers never realize they’ve been misled. Or why.

This single example demonstrates several AI themes in one fell swoop:

  • AI-generated content
  • Ease of creating complex and convincing output
  • Apparent authority
  • Misplaced trust
  • Lack of topic expertise
  • Overconfidence
  • AI slop
  • Difficulty of discerning truth
  • Yesterday’s “AI clues” are gone now – like misspelled words
  • Marketing vs. science
  • The necessity of human review
  • The fact that human review is only effective when the reviewer actually understands the subject, and cares.
  • Ethics

Like with this example, often AI slop is interspersed with accurate information, and it’s impossible to tell the difference unless you actually DO DUE DILIGENCE AND VERIFY ALL OUTPUT.

Yes, all of it.

Don’t shoot the messenger!

Hallucinations

Next, let’s discuss genetic genealogy, particularly haplogroup information. Hallucination or hallucinating is the term used for when AI simply makes things up, which often sound extremely convincing.

There’s nothing AI can tell you about your haplogroup that reputable sources cannot – and AI can’t see behind paywalls or logins, into your matches.

FamilyTreeDNA has an article in their help center titled, Why AI Models Struggle with Haplogroup Analysis.

Unfortunately, I encounter more and more instances where someone uploads their DNA to a third-party site, or “asks AI”. They receive a (sometimes substantially) incorrect haplogroup in a completely different part of the tree, complete with convincing language, posts it publicly, and then decides to argue that the third-party site, (who probably uses AI), or their AI tool, is correct.

Let’s look at an example. The mitochondrial DNA haplogroup for the Native American Anzick-1 burial in Montana that dates from roughly 12,500 years ago is mitochondrial haplogroup D4h3a. There’s no dispute about that.

A tester uploaded their mitochondrial DNA to “AI” and was very confidently told that, based on their mutations, their results belonged to haplogroup A2ex. They don’t.

ChatGPT misinformation about Anzick-1 haplogroup

They were then informed that it was also Anzick’s haplogroup. Wrong again.

FamilyTreeDNA's Discover tool information comparing haplogroups D4h3a and A2ex

FamilyTreeDNA’s Discover tool comparing mitochondrial DNA haplogroups D4h3a and A2ex. Their common ancestor lived about 66,000 years ago.

Not only did AI report Anzick’s haplogroup incorrectly on a grandiose scale, those two haplogroups don’t share a common ancestor for roughly 66,000 years – specifically haplogroup L3 who lived in Africa. AI made a massive mistake.

But it gets worse.

ChatGPT incorrect information about haplogroup A2ex.

The AI “answer” continued for four pages, containing completely erroneous information. To begin with, A2ex is a haplogroup, and “ex” has never meant excluding.

That’s bizarre, and an example of AI making something up that is patently false, but sounds wonderful and very authoritative.

The term for this AI behavior is hallucinating. I’m not publishing the rest of this exchange because I don’t want anyone (or any AI bot), for one minute, to think any of it is accurate. AI even made up mutations, along with four pages of “fairy tale.”

The individual who received this information was so excited and proudly posted it, which in turn provided incorrect information for other consumers, and encouraged them to use a badly flawed tool. Then they proceeded to argue with the experts.

They were absolutely convinced because it “felt” true to them, and because they wanted to believe they had discovered something special, and were related to Anzick. Their comment was, “You’re wrong, because AI told me it was true, and I’ve learned a lot from AI.” I was quite exasperated, but also feel sorry for them and can’t help but wonder how much else of what they “learned” from AI is wrong too, but I digress.

Most AI errors aren’t obviously wrong to the consumer. If AI said that you were descended from Tyrannosaurus Rex, you’d laugh. But if it tells you something more plausible and sounds confident, it’s very easy to be convinced. The reason these errors are so dangerous isn’t because the experts are fooled, it’s because non-experts either can’t, don’t, won’t or don’t think they need to invest the time to discern the difference.

I find it a bit baffling why anyone would use AI, or worse yet, a pay site for haplogroup misinformation, especially since FamilyTreeDNA provides the Discover website with free reports for every haplogroup. They are the unquestioned industry phylogenetic experts for both Y-DNA and mitochondrial DNA, and literally created the reference model for all haplogroups with the Mitotree.

Everyone can use Discover to access both the Y-DNA tree and Mitotree – for free – here. Discover isn’t even behind a paywall, and every customer can click through from their results page.

As far as haplogroups are concerned, there’s really no reason to rely on AI-generated answers without verifying them, because the authoritative resources are freely available and incredibly easy to access.

FamilyTreeDNA’s Discover Ancient Connection for Anzick-1.

Regarding Anzick’s haplogroup, all I had to do was enter haplogroup D4h3a in Discover and under Ancient Connections, right there is Anzick’s information.

I may start posting a link to this article on every single post where someone starts out with, “I submitted my DNA (or haplogroup) to AI, and it said…”

Let me be very direct. Don’t believe AI when it has to do with genetic information, especially Y-DNA, mitochondrial DNA, and haplogroups. AI does not have the capability of understanding topology and nuances of phylogenetic trees, and can only parrot back what others have said – correctly or incorrectly.

Incorrect information that’s publicly posted is then fed back into the AI algorithm, further reinforcing incorrect results.

You can find the free Discover tool for both Y and mtDNA, here, and you can join FamilyTreeDNA’s Mitochondrial DNA Group, here, and the Big Y Group, here.

AI Training and AI at Work

AI is trained on massive datasets of mostly unknown origin, including all public postings such as Reddit and Facebook public groups, pages and postings.

In other words, AI is always accruing additional information, including data uploaded by users.

As genealogists, we are already aware of the dangers of unsourced trees and and information that is repeated and copy/pasted without verification.

AI’s training provides more than just data points for you to evaluate, like trees.

AI bots are trained to interact in a humanlike manner. So instead of trees with hints, think hypothetically of an AI bot that reads the trees, then “creates” a wonderful story or infographic about your ancestor – that may or may not be either fully or partially accurate. But it’s beautiful, heartwarming and you love it! Plus, you don’t have to sort through all those trees, hints, and do the work yourself. AI did it for you! Win – win, right? Wrong.

AI knows how to very effectively manipulate language, images, and with them, emotion. Yours, to be specific. That’s both the bad news and the good news.

AI also has the ability to sift through large amounts of data and summarize succinctly –  sometimes even correctly. Sometimes it takes several refinements to obtain something that’s both correct and what you want. AI can discern patterns in massive amounts of data that we cannot, at least not readily.

Think of AI as your not-so-trusty but very confident and friendly intern – and I don’t necessarily mean a college intern.

Remember when you see AI published by others, their intern has been at work too.

AI itself is not a sentient being. It’s not inherently ethical or unethical. However, it has been trained to interact with you in a human way. It’s easy after tens of thousands of years of human conditioning for us to interpret AI as human.

Let me give you an example.

I use ChatGPT regularly and was having an interactive conversation after asking it a question. ChatGPT replied that it didn’t know, which is a substantial and startling improvement over earlier versions. I replied, “I’m one of the team members, and even I don’t know.” Really, there was no reason for me to say that, except we interact with our GPTs as human, sometimes even naming them. Then, ChatGPT said, “That made me laugh.”

I was a bit startled.

That made ME laugh, because AI is a machine. It can’t laugh, but it has been trained how to interact with us in a humanlike manner – often sycophantically. Remember how LLMs are trained. It knows what to say next. The smiley face was probably its “humor” clue. Making your interactions both useful and enjoyable keeps you paying your monthly subscription fee.

Remember that AI has no morals, because it’s a machine, and no ethics, for the same reason. That falls to the humans driving. If someone intentionally drives their car into a crowd, it’s not the car’s fault.

AI currently doesn’t have the ability to self-check or self-regulate, though this has improved somewhat in recent months and will, hopefully, continue to improve over time.

People who use AI can use the results for good, for nefarious purposes, or simply as a “time-saving” assistant. There are no guardrails. I could give you very ugly examples, but I’ll simply say that, if prompted, AI will generate the worst things you can imagine, including nonconsensual adult images of people that never happened. These are generally called deepfakes, although deepfakes aren’t always generated in a negative context. I’ll discuss this phenomenon as part of Generative AI in the final article where we’ll cover the dark side of AI.

Conversely, AI can be intended for good by its human “driver” but still be inaccurate and, consequently, unintentionally inflict damage or spread misinformation.

The Bottom Line

Here’s the bottom line.

Your personal threat level warning flag now needs to be permanently set to red.

You need to be increasingly vigilant, meaning actively suspicious, of absolutely everything, even exchanges that used to be safe. In other words, if you receive an email from an organization or government agency that you’ve interacted with in the past – don’t click on an embedded link because you always have in the past and it was safe then.

Hint: Go to the website directly. E-mails are very easy to spoof and your SS account password, for example, is invaluable to a hacker.

The bad guys have gotten really good at being horrible. AI is becoming more difficult to detect every day – even for those of us with a significant amount of experience.

I realize that I sound paranoid, but I just completed security update training, and the threat landscape is worse than I ever imagined. I’ll be sharing that information throughout these articles. Better paranoid and safe than trusting and sorry. What I’m striving for is an appropriate amount of alarm and a safe level of balance. I don’t want you to learn the hard way.

Today’s tip-offs that something is AI-generated will be gone tomorrow.

To use AI tools is to learn what AI output looks and feels like, so you can recognize when you encounter AI that you didn’t generate.

Now that we know what AI is, and isn’t, the next article will focus on AI Assistants, using AI successfully, and how to avoid pitfalls. You don’t want to be the president of the AI Fan Club, nor do you want to feel like you’re in an AI Escape Room.

_____________________________________________________________

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

Subscribe!

If you haven’t already subscribed, it’s free. You’ll receive an e-mail whenever I publish by clicking the “follow” button at the top of the main blog page, here.

Help Keep This Blog Free

I receive a small commission when you click a vendor link in my articles and purchase that item. This does NOT increase your price but helps me keep the lights on and this informational blog free for everyone. Please click on the affiliate 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 Uploads

Genealogy Products and Services

My Books

Genealogy Books

Genealogy Research

Mitotree: First, the Tree – Now the Paper

It’s definitely a red-letter day.

Dr. Paul Maier, the lead author on the new paper Mitotree: The Universal Human Mitochondrial Reference Phylogeny at 10x the Resolution has uploaded the paper to the bioRxiv preprint server, here.

I want to congratulate all of the authors, most of whom are members of the FamilyTreeDNA R&D team as either employees or contractors. I’m a contractor and have had the honor of working with these amazing colleagues on this project since 2020.

About Mitotree

Mitotree was officially “born” on February 25, 2025, and the tree has been updated several times since. About 75% of FamilyTreeDNA’s customers who have taken the full-sequence mitochondrial DNA test received a more refined haplogroup with the release of Mitotree or subsequent updates. Those haplogroups are, on average, 2000 years newer than the person’s legacy Phylotree haplogroup, and some are much more recent.

This means that the tree branches have gotten much, much bushier close to the tips. In other words, lots more twigs and leaves!

Unfortunately, about 25% of testers did not receive a new haplogroup because they do not have any qualifying mutations:

  • Either because they have no additional mutations
  • Or because they have mutations, but they are unstable
  • Or because they have mutations, but no other testers have yet tested that match them to split a branch

The good news is that with the addition of haplotype clusters, everyone benefits from new matching and grouping tools. Testers are grouped into clusters on their matches page, and on the Match Time Tree in Discover, which is much more useful for genealogy.

I know this paper has been a long time coming, but it’s well worth the wait.

Mitotree was a massive undertaking. We began with PhyloTree v17 which had 5,438 hand-curated branches constructed from 24,275 full and partial mitochondrial sequences. Phylotree was last updated in 2016 before subsequently being abandoned.

The Million Mito Team developed Mitotree, a robust phylogeny with more than 54,000 branches formed from over 330,000 complete mitochondrial sequences, of which 177,196 are unique sequences.

Let’s Look Under the Hood

There are three critical pieces of information in those statements.

First, the PhyloTree curation and maintenance was not automated, and a paper detailing their build process, what mutations were included or excluded, and under what circumstances was never published.

Approximately once a year, a new PhyloTree was published where newer samples were individually evaluated and new haplogroups were hand-grafted onto an existing backbone tree.

This methodology did not allow for deep splits to become apparent, because the tree itself was never recalculated. This is exactly how haplogroup L7 went undetected until the Million Mito Team recalculated the tree, including the backbone, in 2022, and published this paper about L7’s discovery.

In other words, while PhyloTree was publicly available, there was no recipe for how it was created or maintained.

Clearly, the tree-building process had to be automated, as hand-curation was unsustainable. There were no academic programs in existence capable of handling the number of samples involved. Not even in 2016 for fewer than 25,000 samples, let alone today.

To maintain haplogroup naming consistency, the first thing our team had to do was write software to phylogenetically reverse engineer PhyloTree v17 to establish a common foundation on which to build. This step was essential for consistency and maintaining the established haplogroup naming pattern.

That software also had to be capable of scaling up exponentially. The first versions took weeks to run, which clearly wasn’t an acceptable long-term solution. Still, being able to establish a foundational backbone to build on programmatically was a victory in and of itself.

Second, PhyloTree used partial sequences, meaning HVR1 and HVR2 samples. Early academic researchers did not perform full sequence testing, so the curators of PhyloTree used what was available to the best of their ability.

With over 330,000 full-sequence samples available today, we no longer include partial samples.

Third, 177,196 of the 331,221 full sequence samples used were unique. Before launching the program to construct the tree, identical samples from known immediate relatives are deduped, when possible, in order to reduce unnecessary clutter and processing time.

This means two things. The actual number of testers is greater than 331,000. But more importantly, anyone who thinks that mitochondrial DNA isn’t interesting should take another look. More than half of the sequences used for tree-building are unique, which handily dispels the myth that mitochondrial DNA doesn’t mutate often enough to be useful for genealogy.

The Mitotree initiative has been both scientifically and genealogically successful beyond anything we could have imagined. The base tree includes approximately 180 branches that are older than 30,000 years, including the discovery of haplogroup L7 at 100,000 years old. These branches both expand and more firmly root the oldest portions of the tree.

Amazingly, haplogroup L7 has living descendants whose earliest known family members are found in Turkey, Saudi Arabia, Yemen, the UAE, Palestinian Territory, Ethiopia, Sudan, and South Africa.

Another fun discovery involved Otzi, the Iceman, a mummy found frozen in the Italian Alps who lived more than 5,000 years ago. He was thought to carry an extinct haplogroup, K1ö, named in his honor, but as it turns out, he’s actually a member of haplogroup K1f, a clade with living descendants in Algeria. Additionally, Otzi now matches four ancient burials too, so he does have cousins.

We couldn’t have made these discoveries without the right people testing, so please encourage everyone and dispel the discouraging myth that mitochondrial DNA isn’t useful or interesting. It absolutely IS, and the success stories keep rolling in!

Why Build a Phylogenetic Tree?

Simply put, the history of our ancestors, both recently and reaching back into ancient history, is revealed in the tree – and there’s absolutely no other avenue to reach this information. Ironically, it’s readily available to everyone because everyone has mitochondrial DNA and can easily take the test.

Mitochondrial DNA is different than Y-DNA, which has its own phylogenetic tree based on SNP mutations, and autosomal DNA, which has no tree.

The reason that both Y-DNA and mitochondrial DNA can have phylogenetic trees is that they are inherited from the appropriate parent with only occasional mutations, while autosomal DNA is roughly halved in each generation.

Y-DNA is inherited by males only from their fathers, with no admixture from their mother, while mitochondrial DNA is inherited by everyone from only their mothers, with no admixture from their father.

Autosomal DNA is inherited through random recombination, with half coming from each parent, except for the X chromosome which has its own inheritance pattern. X-DNA is often confused with mitochondrial DNA, but they are entirely different types of DNA. I wrote about that here.

No tree is possible for autosomal DNA, because it gets diced and riced in each generation.

The mutations that occur occasionally and randomly in both Y and mitochondrial DNA form a trail of breadcrumbs leading backward in time, or in our case, they form both the trunk and branches on the tree.

Those unique mutations, once they occur, are inherited by subsequent generations, forming a path back in time.

In current generations, those mutations provide testers with the ability to identify our closest cousins who inherited those same mutations and who have taken either a Big Y-700 test, in males, or a mitochondrial DNA full sequence test for everyone.

In this conceptual example, you can see that Ancestor 1 carries mutation A, as do the next two generations who inherited it from their parent. However, Ancestor 4 now has additional mutation B, so that person carries mutations A+B. This inheritance pattern continues through the apricol lineage as mutations C and D are added in subsequent generations, until “You” are born with A+B+C+D.

Your cousin’s ancestor, on the other hand, was also born to Ancestor 4 and carries both A+B, as seen in the green column. Three generations later, that line added mutation F. Your  ancestor 7 added mutation C, so now the apricot and green lineages can easily be genetically distinguished from each other.

When a living person tests, we immediately know, based on the combination of their mutations, if and where they fit in this lineage, because both the apricot and green branches have accumulated unique mutations that the original blue Ancestor 4 and earlier ancestors did not have.

Using our knowledge of the tree branches, when and where they occurred, provides valuable genealogical information, along with fascinating Ancient Connections, both since and prior to the adoption of surnames.

Both Y-DNA and mitochondrial DNA can reach much further back in time than autosomal DNA because they are not diluted with DNA from the other parent in each generation.

So mitochondrial DNA is both broad, meaning many leaves, and deep, meaning it helps us look straight back in time like a laser sight, all the way to the common ancestor of all humanity, Mitochondrial Eve, who lived about 140,000 years ago in Africa.

Mitochondrial DNA Presents Unique Challenges

Mitochondrial DNA presents challenges not found in Y-DNA tree building.

For example, mitochondrial DNA only has 16,569 locations available to utilize, while Y-DNA currently uses roughly 22 million “gold standard” locations on the Y chromosome.

Of those 16,569 mitochondrial locations, some are not reliable enough for tree-building.

Unreliable mutations include:

  • Insertions, where extra copies of a particular nucleotide (Thymine, Adenine, Cytosine and Guanine) have been inserted at a specific location. Those are indicated by designations such as 309.1C where 309 indicates the marker location, .1 indicates the number of insertions at that location, and C (for Cytosine in this example) indicates the nucleotide inserted.
  • Heteroplasmies occur when multiple nucleotides are detected at a specific location. They are reported by a different letter than T, A, C or G, depending on which of multiple nucleotides are found. Heteroplasmies tend to “come and go” based on detection and threshold levels, so they can’t be used the same way as more stable mutations for tree building – and are often, but not always, unreliable for genealogy. I wrote about this in the article, What is a Heteroplasmy and Why Do I Care?.

Those locations and types of mutations have been excluded from forming tree branches, or downweighted, because they are too prone to mutating back and forth. However, they *might* be useful for genealogical purposes. Less-than-reliable mutations are now used to create haplotype clusters, even though they aren’t used to create new branches on the Mitotree.

I wrote about how haplogroups and haplotype clusters are formed in these articles:

Weighting and Confidence Factors

Mitotree formation would have been a lot easier if delineations, meaning inclusions and exclusions, were clear, either yes or no, but they aren’t.

Some were obvious from the get-go, such as insertions at location 309 and elsewhere, but other situations were much less obvious.

For example, sometimes there’s a specific location that seems prone to reversion, mutating back and forth, meaning that it mutates, then returns to its original state, then repeats the process.

Reversions are a natural phenomenon that occurs frequently in mitochondrial DNA, but is rarely, if ever, found in Y-DNA.

Let’s look at an example.

Courtesy Dr. Paul Maier

How many reversions at the same location are too many, especially if they are close in the tree?

In the above example, the mutation from A to G occurs just below the first arrow, forming haplogroup L1, a branch of L. The red areas all carry that mutation, subsequently forming eight new branches.

However, one step downstream from that mutation, just above the second arrow, location 7055 back-mutates, or reverts to A from G, which is indicated by the “!”. That reverse mutation forms haplogroup L1c3.

If location 7055 continues to flip back and forth between A and G, at what point do we have less confidence in that location, and at what point should a location be excluded from the tree and prevented from creating or dividing a branch?

The answer is that “it depends,” sometimes on the branch, sometimes on the “group” of other mutations it’s found with, and other factors. Some locations are stable in some parts of the tree, but unstable in others. We certainly never expected to see that!

This means the team had to design and build a weighting methodology so that relevant mutations, such as reversions, are not summarily excluded from tree building but instead carry different confidence weighting levels, depending on the circumstances.

Some samples, such as ancient DNA, were down-weighted in general due to their propensity to contain artifacts resulting from deterioration. Ancient samples can still influence branching, just not as much as a high-quality modern sample.

Furthermore, especially when utilizing academic samples, results with a high number of heteroplasmies are excluded, along with those with ambiguous reads and missing upstream mutations, which were previously inferred with PhyloTree. Academic samples vary in quality and age, and we have no way of knowing which quality criteria were used by that lab at that time.

These types of variances made constructing and updating the Mitotree more challenging than the Y-DNA tree, which is not subject to weighting, resulting from phylogenetic tug-of-war between mutations.

In some situations, the addition of just one test can make the difference between a new branch, or no branch, in a subsequent run of the tree. Due to this type of scenario, and fine-tuning the algorithm, some people’s new haplogroups have reverted to an earlier haplogroup in subsequent Mitotree updates.

The paper and supplemental materials provide details about the exclusion process, types of exclusions, and a list of excluded marker locations.

You can view the confidence of any haplogroup in the Classic Mitotree view in Discover.

My haplogroup, J1c2f, is formed by the mutation G9055A, and you can see that the confidence rank is 7.5 out of 10.

Mousing over the little up-arrow tree icon beside the star explains changes in nearby branches, which can affect the haplogroup’s confidence ranking.

Branches are not renamed for convenience, and only when phylogenetically warranted. Existing haplogroup names used either on PhyloTree, in academic literature, or previously on the Y-Full tree are either maintained or avoided to eliminate potential confusion. No one wants two different haplogroup names depending on which tree is being viewed.

Previously obsoleted names remain permanently obsoleted and are not reused.

The paper explains further about technical corrections and tie-breaker situations. In some cases, potential branches with equal or near-equal weighting are flagged for team review.

Amazing Discoveries

I encourage everyone to read the section in the paper beginning with “Notable discoveries.” These aren’t people, as in Discover’s Notable Connections, but scientific accomplishments achieved with the new Mitotree.

Our knowledge of human migration within and out of Africa has been greatly refined, as well as the ancestral path into and across Eurasia, Asia, and into the Pacific Rim. If you have unusual mitochondrial haplogroups such as L, M, N, P, Q, R or S, you’ll absolutely want to read this.

Of course, in time these haplogroups branch and become Paleolithic haplogroups, then the Gravettian-Mesolithic followed by the Hunter-Gatherers found throughout Europe that we are familiar with. We’ve learned a great deal from rare ancient DNA samples that anchor more modern haplogroups in a place and time, and inform us of migration patterns as well as how now-extinct ghost populations gave rise to current ones.

The earliest humans, whom Mitotree has more firmly anchored, formed a trickle out of Africa that became a bifurcated stream, eventually flowing across the rest of the world. What recorded and even archaeological history cannot tell us can be and is revealed through the patterns held in our DNA today – and Mitotree is our map to read them. Common ancestors are found where our mutations as haplogroups converge, joining as we travel backward in time, piercing an otherwise impenetrable veil.

For those with Native American ancestry, Mitotree expands the two-wave theory, refining it into five or six probable migration surges, depending on how you count, based on a combination of haplogroup ages and distribution.

Summarizing from the paper:

The first wave of haplogroups A2, B2, C1b, C1c, C1d, D1, and D4h3a arrived from Asia, across Beringia or along the Pacific Corridor, about 17,000 to 18,500 years ago, and expanded along the Pacific coast. D4h3a is found almost exclusively in the Pacific region.

This was followed by haplogroup C4c about 15,800 years ago and X2a about 10,000 years ago, which expanded into the interior through the ice-free corridor east of the Rockies after the ice melted.

Next were the Paleo-Eskimo and Na-Dene speakers in haplogroups A2a, D2a, D2b, D2c/D3, and D4b1a2a1a2, who, between 3000 and 7000 years ago, made their way from Alaska, across the polar regions of Canada, into Greenland.

Na-Dene speakers, Apache and Navajo, in haplogroups A2a and B2a made their way southwest between 1300 and 1500 CE, or between 500 and 700 years ago.

Last, the present-day Inuit-Yupik expanded from Beringia to Greenland about 1000 CE.

For additional information, please see the Native American lineages section of the paper.

Mitotree has also clarified the ancestors of the Ainu/Jomon people from Hokkaido, Japan, and their ancient Paleolithic northwest Asian and Siberian relatives. The ancestors of this group and Native Americans share even earlier Asian ancestors.

The history of the Jewish people has been significantly refined as well, expanding on earlier works, and is found in the Counting the newest Jewish founders section of the paper.

  • 43% of Ashkenazi Jewish testers fell into 5 founding lineages where they had no subclades before, but they do now.
  • Two clades of haplogroup K have now been split 4000 to 5000 years ago in Romania.
  • There’s new information about the crypto-Jewish community in Portugal, Mountain Jews from Persia and the Caucasus, plus Jewish groups in India, Georgia, Azerbaijan, Israel and Libya.
  • Additionally, haplogroup M33c9b tells the story of Ashkenazi Silk Road merchants who traveled between China and Europe.

The paper reports the isolation of Sardinian-specific haplogroups and provides substantially greater structural definition for the Saami people, increasing from 22 subclades to more than 300.

The Notable discoveries section is chock full of information.

Genealogy Jump-Start

Today’s tree is ten times larger than the 2016 tree, and will continue to grow as more people take a full sequence mitochondrial DNA test, available at FamilyTreeDNA.

The greatly improved tree alone is not the only facilitator of genealogical success. A dozen reports, including Haplotype Clusters and the Match Time Tree are provided for all full-sequence testers in Discover. I wrote about how to effectively use your matches and Discover to break through genealogy brick walls, here.

There are a couple of things you need to do to increase your opportunities for success and to help Discover and Mitotree.

Genealogy is a team sport, and you can increase everyone’s success rate by completing (and updating) your Earliest Known Ancestor (EKA) and location information, found under “Account Settings” beneath your name in the upper right hand corner when signed on, then “Genealogy”, then “Earliest Known Ancestor”, and by providing a family tree or a link to WikiTree.

Identifying common ancestors is what testing is all about, and these are all important success factors. Everyone wants to identify previously unknown ancestors.

Mitotree is More Than Genealogy

Of course, as genealogists, we’re focused on how to use the new Mitotree information, paired with Discover, to identify brick-walled ancestors and learn more about them. I’ve written specifically about how to do that in these two articles:

Mitotree isn’t just an explosion for genealogy, though – it’s an incredible scientific achievement. Instead of genealogy benefiting from other specialties, now they can benefit from what genealogy has wrought.

Mitotree presents opportunities to rethink and potentially recalculate dating and information in other fields, such as archaeology, medical genetics, forensics, and history.

We know vastly more than ever before, but this is only the beginning.

With each new tester and every ancient genome added to the growing body of evidence, our understanding becomes more refined, revealing insights about our ancestors, and weaving our thread into the broader tapestry of human history.

_____________________________________________________________

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

Subscribe!

If you haven’t already subscribed, it’s free. You’ll receive an e-mail whenever I publish by clicking the “follow” button at the top of the main blog page, here.

Help Keep This Blog Free

I receive a small commission when you click a vendor link in my articles and purchase that item. This does NOT increase your price but helps me keep the lights on and this informational blog free for everyone. Please click on the affiliate 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 Uploads

Genealogy Products and Services

My Books

Genealogy Books

Genealogy Research

Ancient Connections: Where Archaeology Meets Your Ancestors

Ancient Connections, a report found on FamilyTreeDNA’s Discover platform for both Y-DNA and mitochondrial DNA (mtDNA), can be used in multiple ways to enhance your genealogy and unlock secrets.

It’s exciting to examine ancient burials linked to our ancestors and understand how we connect to them. Ancient Connections offer a wealth of information, providing clues that can help unravel long-standing mysteries.

Today, there are more than 12,960 Y-DNA Ancient Connections in Discover, along with more than 25,310 mitochondrial Ancient Connections, and that number increases weekly.

Why the disparity, you ask? Remember, everyone has mitochondrial DNA, but only males have Y-DNA.

In addition to matches, your DNA results hold something even more powerful – evidence of where your ancestors and their cousins lived in the distant past, when they lived, and the cultural context surrounding them. These essential insights are unavailable through any other means. Ancient Connections help us answer the age-old question, “Where did I come from?”

Could These People Be My Ancestors?

I’ll show you how to answer another question, too. Which of these Ancient Connections could potentially be your ancestors, and which ones are your “haplo-cousins”?

Regardless, they all help us understand our ancestors’ past, and that of their descendants.

Discover is for Everyone

FamilyTreeDNA provides a free version of Discover that everyone can use. There’s also an enriched version with additional information for their customers who have purchased Y-DNA and mitochondrial DNA tests.

Discover has something to offer for everyone.

Mitochondrial DNA is passed from mothers to all of their children of both sexes – unmixed with the DNA of the father.

Everyone has their mother’s mitochondrial DNA, which is passed intact, except for an occasional mutation, directly down through generations of mothers. It’s not admixed like autosomal DNA, so we don’t lose some portion in each generation. This is exactly why we can track mitochondrial DNA infinitely far back in time and why it’s so crucial for understanding the origins of your mother’s specific line.

Y-DNA is passed from fathers only to their sons, which is what makes males male. Like mitochondrial DNA, Y-DNA is not admixed with any DNA from the mother, so we get a laser line-of-sight view of the direct patrilineal line back in time. The Y-DNA direct paternal line is the male’s surname line in cultures where males carry their father’s surname.

If you’ve tested at or upgraded to either the Big Y-700 level or the mtFull, full mitochondrial sequence test, you will receive the most granular haplogroup possible, meaning the closest in time and most informative. You’ll also match with other testers who have taken the less-refined lower-level tests.

The most informative and precise results occur when both people have taken the premium tests. As more people test and science advances, you may receive a new haplogroup from time to time when you and another tester share a rare mutation – so these tests are evergreen.

Both Y-DNA and mitochondrial DNA testers at any level have access to Discover on their dashboard for those products, although the results of lower-level tests provide less information.

The Free Version of Discover Compared to the Premium Version for Testers

Here’s a comparison of lower-level Y-DNA tests and the Big Y-700.

Click any image to enlarge

Y-DNA testers who have only taken the 12-111 STR panel tests receive a predicted haplogroup, and when clicking through to Discover, receive up to 10 Ancient Connections.

For example, If your Y-DNA haplogroup is predicted as R-M269, the most common male lineage in Europe that arose some 6450 years ago, your Ancient Connections begin with the closest genetic match to R-M269. Viewing Ancient Connections that are 6500 years ago will certainly be interesting, so please do look, but probably not terribly useful for genealogy.

However, if that same person were to upgrade to the Big Y-700, they would receive a much more recent haplogroup, and along with it, up to 30 Ancient Connections within their major haplogroup lineage, R in this case, plus the oldest sample in the database. For some haplogroups, there may not yet be 30 Ancient Connections, although new ancient samples are added weekly for both Y-DNA and mitochondrial DNA.

All Ancient Connections begin with the matches who are genetically closest to the haplogroup requested.

The same scenario holds true for mitochondrial DNA testers who previously tested at the HVR1/HVR2 level, but not at the full sequence level, which is the only test available today.

This article focuses on testers at the higher levels, meaning the Big Y-700 and the mtFull tests, and how to utilize their 30 closest Ancient Connections. We’ll walk through step-by-step examples using both.

However, before we begin evaluating our Ancient Connections, we need to cover two fundamental concepts.

BCE, CE and Converting to “Years Ago”

It’s helpful to understand date structures and how they are used.

It’s easy to get confused when seeing the dates of CE, current era, and BCE, before current era, which means we misinterpret the information.

For example, the year 100 CE is the year 100 that occurred roughly 1900 years ago. We round 2026 to 2000 for these types of calculations. The year 100 BCE, before current era, occurred approximately 2100 years ago. I often prefer to work in “years ago”, because it equalizes the numbers, meaning you’re less likely to get confused about how long ago someone lived or something happened.

To do the calculations from BCE dates to “years ago,” add 2000, so 2250 BCE equals 4250 years ago.

For CE dates, subtract from 2000. The date 500 CE occurred 1500 years ago.

This can be especially confusing when you’re dealing with the same number on either side of the current era, which began in the year 1. There is no year zero. For example, we need to be vigilant not to confuse 500 BCE, which was 2500 years ago, and 500 CE, which was 1500 years ago.

Now, on to our second concept.

Haplogroup Age and Burial Age Are Not the Same

When viewing Ancient Connections, the genetic age of the haplogroup, meaning when it was formed, and age of the burial are two different things.

Haplogroup R-ZP18 is about 4250 years old, and this Late Iron Age, pre-Roman burial which is also R-ZP18, occurred about between 2337 and 2043 years ago.

Haplogroup ages and the date they emerged, which show on the Timeline, sometimes mature and are refined with additional testers and branching.

Burials are dated using various techniques, and sometimes the ages provided in the academic papers are earlier than the genetic age of the haplogroup, shown on the Timeline at the bottom of the Connections page.

Discover makes no attempt to “fix” this situation, because it’s unclear which age should be changed. It’s not unusual to be unable to fully analyze ancient remains. For example, let’s say a sample is determined to have the SNP for R-ZP18, but simultaneously lacks downstream SNPs and some upstream SNPs, and the burial was dated from surrounding soil or artifacts. In that case, it would be impossible to know what is precisely “accurate”, but the sample is accurate enough to be included in Ancient Connections. This is also why some samples aren’t included in Globetrekker™ calculations. Some low-quality samples are excluded entirely.

Every ancient sample is individually analyzed by R&D team members before being included in the phylogenetic tree and Ancient Connections. Sometimes, the scientists at FamilyTreeDNA can assign a more specific haplogroup than was available to the paper authors at the time of publication because the tree has since branched.

As you receive new Ancient Connections, your older ones, except your final or oldest connection, will roll off of your list.

That’s one reason I devised a process for analyzing and recording my Ancient Connections, and for determining which ones might be actual ancestors – or at least aren’t precluded from it.

First Peek at Ancient Connections

Sign in to your FamilyTreeDNA account and click on the Discover link on the dashboard for the type of test you wish to view.

In the Y-DNA example, I’m using my male Estes cousins. As a female, I can’t test for the Estes Y chromosome, so I recruited others to represent my line. You can see the results in the Estes DNA project.

After signing in, click on Discover, then on Ancient Connections.

Y-DNA Ancient Connections 

It’s a bonanza!

Your Ancient Connections are displayed at the top of the page, ordered from genetically closest to most distant. These are archaeological samples whose data has been extracted from academic papers and analyzed before being include in Discover.

You’ll see a description of the first sample, or any sample you click on. The Timeline for that sample, along with your haplogroup and your common ancestor’s haplogroup, is displayed at the bottom of the page.

The first, meaning closest, Ancient Connection is highlighted, so let’s take a look.

  • “You” are shown in the dark purple frame (with purple arrows) at right, with your haplogroup, in this case R-ZS3700, which is placed on the Timeline at the bottom of the page in the appropriate location.
  • The Ancient Connection named “North Berwick 16499”, whose name was taken from the academic paper in which it was found, is shown in a red frame and placed on the timeline based on information provided in the paper.

“North Berwick” has been assigned to haplogroup R-ZP18, either in the paper, or by the FamilyTreeDNA R&D team if a more refined haplogroup can be determined, and is this tester’s closest Ancient Connection based on its position on the list.

Note that you may have other Ancient Connections who are genetically equivalent in age, meaning they too would be R-ZP18. In our case, only one sample is assigned to that haplogroup.

  • Your Shared Ancestor, in the green frame, is the first man who carried R-ZP18, which emerged about 2250 BCE, or 4250 years ago.

Notice that I said, “the first man.” That man’s sons, grandsons and so forth were also haplogroup R-ZP18. Some went on to develop new downstream haplogroups, but apparently, North Berwick, by the time he lived, had not. Either that, or a downstream haplogroup cannot yet be determined due to a lack of other testers in that lineage.

Men with downstream SNPs (mutations), meaning downstream haplogroups, also descended from R-ZP18. Those SNP mutations become downstream haplogroups when two or more men who carry the same SNP mutation match each other. For example, our Estes ancestor who carries haplogroup R-ZS3700 descends from R-ZP18 through a distinct series of downstream SNPs (mutations). While we carry R-ZP18 in our lineage, it’s not our most refined haplogroup.

However, for North Berwick, haplogroup R-ZP18 is his most refined haplogroup.

Because of this, we know for sure that North Berwick and the Estes men both descend from the original R-ZP18 man who lived about 4250 years ago, but we can’t tell when they shared a common ancestor between 4250 years ago and 3750 years ago when the next downstream haplogroup R-BY342, was formed in the Estes lineage.

Because North Berwick does not belong to a different downstream haplogroup, it’s genetically possible that the Estes men could descend from him during that 500-year timeframe. There’s nothing to exclude that possibility based on his haplogroup alone, but looking at when North Berwick lived is another matter.

North Berwrock lived between 2337 and 2043 years ago, which is 1400 years LATER than when the first downstream haplogroup, R-BY342 was formed, about 3750 year ago, in the Estes lineage. This precludes North Berwick from being our direct ancestor. Instead, he’s our “haplocousin.” We share a common upstream ancestor.

What we absolutely CAN confirm, though, is that between 500 and 1300 years earlier than North Berwick lived, between when haplogroups R-BY342 and R-ZP18 were formed, both North Berwick and our Estes ancestor descended from the same man.

This kind of information is like waving a red flag in a genealogist’s face. We immediately need to know more.

This is just the beginning, and we have so many questions!

Revealing More Information

Did our common ancestor live in or near North Berwick, or someplace else? What do we know about the history of North Berwick?

What can we discern about North Berwick?

  • When did this man live, and where?
  • What do we know about him?
  • Who was he?
  • Did he live close to where my earliest known ancestor in this line is found?
  • What can I tell about his culture?
  • Were there grave goods that provide at least a peek into his life?

So many questions!

Discover tells us that he lived between 337 and 43 BCE, so between 2337 and 2043 years ago, during the Late Iron Age, and is associated with the Iron Age Britain cultural group.

The Ancient Connections “Reference” provides information about the paper where the North Berwick sample was found. No links are provided because sometimes the paper is behind a paywall, and you can’t access it without paying, and sometimes it’s a preprint and will appear later elsewhere. Sometimes one paper actually uses data from an earlier paper, and it gets complicated.

The first thing I do is Google the paper – Patterson et al. 2022. Google provides two links – one that’s free, and one that isn’t. Many times, the sample data is found in the supplementary material, which may also be behind a paywall, even if the paper isn’t.

I know you’re going to think it’s a pain, but I strongly encourage you to read every paper, though sometimes they can be challenging to understand, so read them when you’re fresh, not tired, and can concentrate. If nothing else, at least read the abstract. There’s so much great information buried in academic papers, including nice maps and discussions of the burial site. You can also learn more sometimes by Googling the burial site itself.

Let me give you an example from this paper’s abstract. I’ve added the brackets [ ] for clarity, from the body of the paper:

Between 1000 and 875 BC[E], EEF [Early European Farmer] ancestry increased in southern Britain [England and Wales] but not northern Britain [Scotland] due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of people of England and Wales from the Iron Age, thereby creating a plausible vector for the spread of early Celtic languages into Britain.

How does this information align with our North Berwick man? He lived between 2337 and 2043 years ago, and the EEF ancestry increased in southern Britain between 3000 and 2875 years ago. The authors do add “over previous centuries” which probably accounts for the 500-year gap and gets closer to when R-ZP18 lived. North Berwick is found in Scotland, not England or Wales, so not part of the group of people most closely aligned with the ancient French migrants from this timeframe. Maps in the paper confirm this as well.

Googling the paper and sample name provided additional sourced information. This paper incorporates samples from earlier papers and performed a different type of analysis.

Ironically, I wrote about this in detail in 2022, here, before Discover was introduced, so I had absolutely no idea that North Berwick 16499, discovered on Law Road in North Berwick, was related to my ancestors, and therefore, to me.

In that article, I researched and mapped the samples. North Berwick 16499 is located on the coast, along the harbour, not far from Edinburgh.

The burial was excavated in the cemetery of the original St. Andrew’s Church in North Berwick, originally built in the 1100s, but now in ruins.

This paper’s supplementary material explains that:

Excavation of a substantial square cist at Law Road, North Berwick, uncovered the remains of four inhumations of Late Iron Age date (Richardson et al. 2005). Two adult males 3603 (Skeletons C46 and C51) and a female around 16–18 years of age at death (Skeleton C50) appeared to have been displaced for the burial of an adult female (Skeleton C47), wearing an iron brooch. One of the males (C46) had been buried with a bone-handled iron knife.

What I wouldn’t give to see that iron brooch and bone-handled knife.

C51 is North Berwick 16499, “our” skeleton. A cist grave is a small, stone-lined burial box, and this one was preserved beneath medieval deposits.

That reference gave the even more precise location of Law Road and St. Andrews Street and informs us that the remains are held by National Museums Scotland. Checking their collections confirms that they hold these items, plus the bones. However, there are no photos shown. Contacting them for images might yield results.

What the paper did not say is that little was known prior to these excavations about early North Berwick.

By Stefan Schäfer, Lich – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=19450589

North Berwick was known to exist as a ferry landing from the 7th century, but an archaeological survey of Berwick Law, a hill that overlooks the town, revealed much earlier information:

The earliest features on North Berwick Law comprise a pair of newly discovered cup-marked rocks and the scanty remains of a prehistoric hilltop fort discovered by RCAHMS (1957, xv), whose outworks appear to be more limited than suggested by previous authorities (Feachem 1963, 119; OS 1975). The lower SW flank of the Law is dotted with the remains of a prehistoric settlement comprising at least 12 hut circles or house platforms and fragments of an associated field system of small cairns and banks.

Unfortunately, the perimeters of Berwick Law have been settled and farmed since, and the hilltop has served recently in the same capacity as it probably served initially – as a lookout across the firth. The residents would have been watching from this highest point for invaders arriving by sea.

It’s about half a mile from the foot of the hill to the burial cist.

The survey also mentioned that they found “stray bronze age finds” that had likely been disrupted by subsequent settlement. The bronze age in Northern Scotland began about 4200 years ago, about the time that R-ZP18 lived, until about 2800 years ago. Whoever North Berwick 16499 was, the man who was buried here some 2400 years ago, he was probably associated with this hilltop fort, perhaps farming at the base, probably living in one of those huts or nearby. His body wouldn’t have been taken far for burial.

We are left to wonder how long his family had lived here, and how they had arrived. Was his cist burial a sign of status? Was he sent to commend the fort, or had his family settled here centuries earlier? Did our ancestor descend from this location, too?

After our analysis, we know that our ancestor did not descend from North Berwick 16499 himself, but North Berwick definitely descended from our ancestor.

If you’re thinking this is a rabbit hole, it definitely is – but what a rabbit hole! There is so much to be gleaned from these Connections.

The Evaluation Process

I needed a process to keep track of these Ancient Connections, my findings, and how they relate to my Estes ancestors. Who begat, or might have begat whom, and where?

I created a spreadsheet as I read and analyzed each Ancient Connection relative to my ancestral line. I include what I know about it, and what I THINK I know about it. Those can be two vastly different things. I follow this same process for every ancestral line where I can find a representative Y-DNA or mitochondrial DNA tester.

For example, there’s a persistent rumor that the Estes family line descends from the d’Este family of Italy. That rumor was spun up long before we had genetic proof that our line was found in Kent, England, in records dating back to about 1495. Fortunately, church records, for the most part, and some civil records still exist.

The first known record is the will of our Nycholas Ewstas written on January 1, 1533/1534 in Deal, Kent, England. We confirmed that this is our Estes line by testing the Y-DNA of his descendant who still lives a few miles up the road, compared with the descendants of Abraham Estes (1647-1720), the man who immigrated to Virginia in 1673. We believed that Abraham Estes, who married in 1672, then immigrated 14 months later, was one and the same person.

Based on the details of the d’Este rumor, the Estes line was supposed to descend from one Francesco d’Este (Esteuse), an illegitimate royal son, exiled to France about 1471 after the death of his father, Azzo VI of Este, by a jealous half-brother, complete with a royal allowance. There are mentions of him in the Dutch and French courts, then nothing. Silence.

Apparently, various Estes lines in England liked the idea that he crossed the English Channel and settled in the fishing village of Deal, with his descendants carrying the surname Estes, a derivative of d’Este. King James apparently believed there was a connection and made that suggestion himself in one instance, although it’s unclear if that Estes man was from our Estes line.

It’s difficult to prove a negative, so we need to rely on the evidence we do have, much of which has been discovered and accumulated in more recent years, since the genesis of that rumor which was widely believed.

To begin with, it makes no sense that between 1471 and 1495, the family suddenly went from being a wealthy exiled royal circulating at court in France and the Netherlands, to peasant fishermen on the coast across the channel.

There is a legitimate royal lineage that does descend from the d’Este family in Italy, but until and unless someone who is a descendant of the direct male line of the House of Hanover, which reaches back to the Azzo line of Ferrara, takes the Y-DNA test, there’s no proof positive. Either their Y-DNA would match the Estes line, or not. I’d wager that it does not, but I’d love to find out for sure.

I’m hopeful that some nugget in Ancient Connections might add weight to either side of the argument.

Creating a Spreadsheet

First, I’ll show you the Ancient Connections spreadsheet built for the Estes line, then I’ll demonstrate how to build it.

Here’s the finished spreadsheet. Every haplogroup’s spreadsheet will be different.

I placed the four confirmed Estes haplogroups at the bottom because that’s the base from which the Ancient Connections are built, beginning with the closest Connection first.

“My” haplogroup, meaning for my ancestor’s Estes male line, is R-ZS3700, but there’s one additional downstream haplogroup, which I’ve included for completeness.

Let me alert you now that you WILL receive new Ancient Connections, which means that for every new Connection you receive, one more distant Connection rolls off the end because it’s outside of your 30 genetically closest Connections threshold. I’ve received new Ancient Connections in the past three months, between the time I originally began gathering this information and when I published this article.

The underlying message, in addition to maintaining your spreadsheet, is to set a calendar alert to check your Ancient Connections regularly. One rolled off that was more distant genetically, but was located only 10 miles away from where my Estes ancestors originated in Deal, England.

We’ll build the spreadsheet so you can easily expand it as new Connections are added.

Also, note that you may receive multiple matches from the same archaeological excavation site, which, of course, is highly suggestive of a family. If the multiple burials are in the same exact location and from roughly the same timeframe, I only record them on the spreadsheet once to reduce clutter, but I add a note that there are multiples.

The Build Process

Referencing the image above, haplogroups in the column directly above the originating haplogroup, R-BY154784, then R-ZS3700, colored apricot, are parent haplogroups – meaning that these haplogroups descend from the haplogroups above them. Look at R-ZP18, North Berwick, above R-BY482 as an example. This means two things.

  1. It’s possible that my ancestors could descend from these individuals in this column. However, all things considered, it’s more likely that they are a “cousin” of my ancestor who lived at that time and carried that haplogroup before a new mutation happened and branched into a new downstream haplogroup. That’s exactly what we proved about North Berwick based on when he lived and our downstream haplogroup formation date.
  2. Every man who shares that haplogroup, R-ZP18, absolutely DOES descend from the original man who carried that haplogroup-defining mutation that arose about 2250 BCE or about 4250 years ago. That one man in whom R-ZP18 occurred is noted above North Berwick, in red, indicating that both North Berwick and the Estes men descend from the man whose name is now R-ZP18.

On my spreadsheet, I’ve colored the cells of the haplogroups that I do descend from, and the burials I might descend from, apricot. The common haplogroups that burials and contemporary testers downstream descend from are in bold red text (R-ZP18 and R-DF49).

Burials who carry a different branching haplogroup, meaning they aren’t R-ZP18, but branch FROM from R-ZP18, are shown with their branches in blue. My ancestors cannot descend from blue haplogroups because we are on different branches of R-ZP18. Our branch is apricot.

Let’s add the next Ancient Connection.

Here’s the Time Tree Timeline of the second Ancient Connection, named Mount Pleasant 746, found at All Saints, Cambridgeshire, England, who lived between 940 and 1365 CE.

This shows two things.

  • My R-ZS3700 ancestor cannot descend from the Mount Pleasant burial, since R-ZS3700 doesn’t carry the mutation for R-BY173525, found in the Mount Pleasant burial.
  • However, since R-BY173525 branched from R-ZP18, we DO SHARE a common ancestor who lived about 4250 years ago. This means that between 4250 years ago and 940-1385 CE, the man found in Cambridgeshire, and my ancestor found in Kent around 1495 CE, both migrated in different directions from where their common ancestor, R-ZP18, lived, wherever that was.

The next closest Ancient Connection is Vor Frue Kirkegård 336, buried in the yard of a former monastic church in Vor Frue Kirkegård, Aalborg, Denmark, which dates from the 12th century. This man lived between 1536 and 1806 CE.

Again, my Estes ancestor who carries R-ZS3700 can’t descend directly from this man. Three things preclude Vor Frue Kirkegård 336 from being our ancestor:

  • The fact that Vor Frue Kirkegard 336 carries R-BY203953, but the Estes line does not.
  • Vor Frue Kirkegard 336 does not carry, R-BY342, the next downstream SNP for the Estes line.
  • Vor Frue Kirkegard 336 lived between 1536 and 1806 CE, which is contemporary with or after the earliest documented Estes ancestor was living in Kent, England circa 1495.

In this case, the locations are not in close proximity, over 500 miles apart by a combination of land and water. This distance would be less compelling as an elimination factor if the men were further separated by time.

In this case, any one of the first three pieces of evidence, alone, would preclude Vor Frue Kirkegard from being our ancestor.

Once again, R-ZS3700 shares the common ancestor of R-ZP18 with Vor Frue Kirkegård 336, along with Mount Pleasant 746 and North Berwick 16499. All of those men shared one common ancestor 4250 years ago.

Now, we have the bottom portion of our tree built out – meaning everyone who either carries haplogroup R-ZP18 as their primary haplogroup, or descends from that man.

Moving up the tree in the apricot column, you’ll notice that I’ve left spaces that leave room for the branching haplogroups in blue on the right. You won’t know how many spaces you need or the configuration until you start building the tree in your spreadsheet.

I listed both “5 haplogroups” and “3 haplogroups,” in the apricot column. You can spell those haplogroups out if you wish, but for my Ancient Connections, they didn’t matter. They may matter in the future, though, if you have an Ancient Connection who descends from or branches from one of them.

If you need an easy way to determine your ancestral lineage, the Ancestral Path is just the thing for you and will help build your spreadsheet.

Your Ancestral Path

It’s easy to view which haplogroups are in your direct ancestral line. Just click on the “Ancestral Path” link in Discover’s sidebar.

Your haplogroup is shown at the top, with the parent haplogroups in order beneath. I’ve boxed the “5 haplogroups” between R-BY482 and R-ZP18 here, and then the “3 haplogroups” between R-ZP18 and R-DF49, which is where we find the next closest Ancient Connections.

One bonus of the Ancestral Path display is that you can see how many Ancient Connections are in the database for each haplogroup, at far right.

As I continue to build out my spreadsheet, the next four burials are all R-DF49, a haplogroup that was formed about 4400 years ago. Three of those burials are in England, and the fourth is in the Orkney Islands. They are all apricot, meaning:

  • They don’t carry any downstream haplogroups
  • They all descend from R-DF49
  • Based on haplogroups alone, nothing precludes the Estes line from descending from any of those men

Evaluating each Ancient Connection in the same way we did for North Berwick, when they lived, as compared to our Estes men, and where, may eliminate some of these burials as possible direct ancestors.

The balance of the Ancient Connections descend from R-DF49 through different branches and are colored blue, removing them as possible ancestors of R-ZS3700.

Regardless, we all share an ancestor, R-DF49, about 4400 years ago, just shortly before R-ZP18 lived some 4250 years ago. It would make sense that R-DF49 and R-ZP18 lived in relatively close proximity, given that they only lived about 200 years apart.

What else can we learn about these Ancient Connections?

Migration Map

To view all of your Ancient Connections on a map, just click on “Migration Map” in Discover’s sidebar.

The haplogroup whose path you are viewing, in this case, R-DF13, is the red dot on the bar at the top and is shown on the map with a red circle, but is mostly obscured here by the blue and red circles with numbers in the British Isles.

That haplogroup’s migration map, and your Ancient Connections, are displayed together. Individual burials not in close proximity to others are shown with individual trowels, and multiple burials are shown with blue and red circles, with the number indicating how many burials are found at that location.

Expanding the map shows more detail. I placed a red star to indicate the Estes lineage in Deal, at the bottom right.

Many of the blue and red circles have expanded, too.

By clicking on the blue circle, you can see which samples are found there. In this case, these 7 matching samples were all found in the same archaeological dig.

By clicking on any sample, you’ll see additional information.

One of my original questions was whether or not there was any indication whatsoever, even a smidgen of possibility that the d’Este rumor might be true. Some Estes researchers are not convinced by other arguments.

Given that our closest Ancient Connection lived about 2000 years ago in the British Isles, as do most, but not all, of the other Ancient Connections, it’s exceptionally unlikely that the progenitor of the Estes lineage was living in Italy in the 1400s, just a generation before our Estes ancestors are found in the records in Deal, and some 2000 years after the parent haplogroups of R-ZS3700 were already well-established in the British Isles.

There’s another place to check for additional information.

Notable Connections

Sometimes Notable Connections includes people who are either “ancient” themselves, and whose haplogroups have been identified through their descendants, or are from burials, or a combination of both. The difference is that their identity is not entirely a mystery.

When evaluating Notable Connections for genealogy, focus on:

  • Their haplogroup
  • Your shared haplogroup
  • When and where they lived
  • Any precluding factors like we found when analyzing North Berwick

Notable Connections are all interesting, but only a few may be relevant to your genealogy or your ancestors’ journey to where you first found them.

Speaking of their journey, Globetrekker™ shows you the most likely path of your ancestor’s haplogroup over time.

Globetrekker™

Globetrekker™ is currently only available for Y-DNA, and only for those who have taken the Big Y test.

Clicking on Globetrekker™ through my cousin’s account shows the path of his haplogroup, through Europe, in this case, into England and, if I enable them, includes relevant Ancient Connections. One Ancient Connection, Mount Pleasant 746, at Cambridgeshire, is found on the estimated genetic haplogroup path.

We’ve already determined that the Estes line cannot descend from Mount Pleasant 746, but the locations of the descendants of our common ancestor, R-ZP18 can still provide substantial clues about where our common ancestor might have lived, and his culture.

I’ve also enabled Globetrekker™’s “Sibling Lines” which indicate haplogroup siblings with the thinner lines. These display options are easy to toggle on and off.

Note that this is an estimated genetic path. In other words, it’s not exact. Especially, paths of the newer haplogroups can and will change over time as more testers test, and earliest known ancestors (EKAs) are added. I wrote about how to add EKAs in the article, “Earliest Known Ancestors” at FamilyTreeDNA in 3 Easy Steps. Please add yours, along with their location.

Sometimes the most refined haplogroup did not emerge in England, R-ZS3700 in this case, but in America. However, since the descendants have noted their EKA correctly as originating in England, that’s where the most refined haplogroup is also shown.

Furthermore, other than for Native Americans who are indigenous to the Americas, Globetrekker™ and the Migration Map both stop at the originating land mass for both Y-DNA and mitochondrial DNA.

You can read more about Globetrekker™, here.

What About the d’Este Family Story?

Now, about that d’Este family story.

Globetrekker™ utilizes the “least cost” migration methodology, which means the easiest, least risky, route of passage from place to place for our ancestors. The Strait of Dover is the closest link to the European mainland, and was shallower at that time as well.

There’s absolutely no genetic evidence that points to Italy or anyplace south for the Estes ancestral line. In fact, haplogroup R-S552 emerged about 4650 years ago, and appeared about the time that this lineage crossed from continental Europe into what is today England. There’s no evidence that this line back-migrated to the continent, to then remigrate back to the British Isles after 1471.

Ancient Connections show us that there’s evidence of the Estes ancestral haplogroups in many locations across the British Isles, long before Frencesco d’Este was being exiled from Italy. Multiple Estes family members appear in the earliest records in the Deal area, so it’s certain that they were well established and probably fishing on those same shores hundreds, if not thousands, of years earlier, based on Ancient Connections these various migration maps.

These provide one more very large nail in the coffin of that much-loved but extremely unlikely family story.

The final piece of evidence would be if a proven male descendant of the d’Este line tested and did or didn’t match. I’m not holding my breath.

Mitochondrial DNA

The methodology for building your Ancient Connections spreadsheet is exactly the same for mitochondrial DNA, with one exception.

You immediately know that you cannot descend from any male burial, because men don’t pass their mitochondrial DNA on to their children of either sex. You could, however, potentially be descended from his mother, or sister, or cousin, etc. Otherwise, the guidelines are the same.

Sometimes, Ancient Connections can resolve long-standing conflicts.

The Conflict Surrounding Radegonde Lambert

For a very long time, it was believed that Radegonde Lambert, an early Acadian woman born around 1621, was Native American because there were no known people, other than her, with that surname in Acadia. Based on the birth years of her children, she married Jean Blanchard, a French man, around 1642.

It doesn’t help any that French soldiers arrived in 1632, family settlement began about 1636, but there are virtually no records until the 1671 census, nearly 40 years later. Lots of people perished during that 40 year window.

Radegonde could have married before her arrival in Acadia, and Lambert may not be spelled accurately. We are fortunate that French women are referenced by their birth surnames, not their married surnames, so she is listed as Radegonde Lambert, the wife of Jean Blanchard on the 1671, 1678 and 1686 censuses.

Based on the conflict swirling around her presumed Native American ancestry, plus early mitochondrial DNA HVR1/HVR2 results that pointed to haplogroup “X”, which has both Native American and European branches, Radegonde began to be reported as “DNA confirmed Native”. However, that was incorrect, and she was NOT DNA confirmed as Native. Haplogroup X2a and subclades are Native American, while other haplogroup X AND X2 subclades are European, as can be viewed in the Acadian AmerIndian DNA Project.

By the time full mitochondrial sequence testing became available, that incorrect “confirmation” was firmly entrenched in family trees and among researchers, leading me to pen the article, Haplogroup X2b4 is European, Not Native American.

While ho-hum with a yawn today, it was radical at the time and greeted with quite the kerfluffle. After all, Radegonde was proven Native and HOW DARE ME! 😊

Prior to Mitotree, Radegonde’s haplogroup was X2b4, but now it’s been extended to X2b4t2, which arose about the year 500, or around 1500 years ago.

X2b4 and subclades are quite rare, with only 353 descendants today, including subclades.

X2b4t2 only has 65 members.

Clicking on the “Other Countries” link takes you to the Country Frequency report.

Click on “Table View.”

Note that the 36 “Other Countries” includes people who have listed “Unknown Origin,” who are counted individually. People listing United States often mean they are brick walled here. Some people interpret this as Native American, but there is a separate United States Native American category. Not everyone selects the correct category.

These locations are user-reported in the Earliest Known Ancestor (EKA) information, which is critical for Discover reports. I wrote about how to complete that information in 3 easy steps, here. Please add yours, including location!

One person has reported that Radegonde Lambert is “United States Native American.” She’s not Native, and she never lived in the United States either. During her lifetime, Acadians lived in Nova Scotia, where three censuses accurately reflect her residence.  Perhaps that incorrect information was entered by someone years ago, and never changed. Most people don’t think to update their EKA information.

Unfortunately, when misinformation is provided, or not corrected after we learn more, new testers view that as nuggets of evidence, and the misinformation cycle continues.

One of the benefits of Ancient Connections is that they are NOT based on trees, historical records, or genealogy of any sort. Ancient Connections are based on archaeological digs, and the location of the excavation is not subject to question.

So, let’s take a quick look at Radegonde Lambert’s Ancient Connections and see what we find.

A Quick Sneak Preview

Because I’m interested primarily in a quick view of locations, I’m skipping right to the Migration Map where all of the Ancient Connections are shown.

Radegonde’s Ancient Connections are scattered all over Europe, but there’s absolutely nothing in the Americas.

Given that Native burial excavations are culturally frowned upon in many locations, we might not see any in the US, but we also wouldn’t see any recent burials in Europe, given that the Native people have been in the Americas for well over 10,000 years.

Generally, even when Ancient Connections are missing in the US, we still find some contemporary testers with proven genealogy who carry that haplogroup, and at least a few ancient burials in Canada, Mexico, Central and South America.

The first seven Ancient Connection matches carry haplogroup X2b4, and the rest are European subgroups of X2b4. There are no closer matches as of today, but that doesn’t mean there won’t be eventually.

X2b4 emerged sometime before 5200 years ago, clearly someplace in Europe, possibly central Europe.

Radegonde’s X2b4 match locations are:

  • Malá Ohrada site in Prague – the individual lived 5800-5400 years ago
  • Hetty Peglers Tump, Gloucestershire, England – lived 5639-5383 years ago
  • Sorsum, Hildesheim, Lower Saxony, Germany – lived 5350-5100 years ago
  • Passage Tomb, Carrowkeel, Cairn K, Sligo, Ireland – lived 5100-4600 years ago
  • Kolín I-7b, Bohemia, Czech Republic – lived 4835-4485 years ago
  • De Tuithoorn, Oostwoud, Netherlands – lived 4579-4421 years ago

It’s unquestionable that X2b4 was found across Europe, not in the Americas, 5000 years ago.

This image is NOT from Radegonde Lambert’s Ancient Connections. I’ve included it to illustrate a Native American branch of haplogroup X2.

The descendants of Native American haplogroup X2a, shown above, match Kennewick Man, who is also X2a, as their closest Ancient Connection. He lived between 9250 and 8390 years ago along the river in present-day Kennewick, Washington. Their second-closest Ancient Connection is with an X2a1 burial found in Windsor, Ontario, who lived between 1223 and 1384 CE.

Neither of these unquestionably Native burials are found in the Ancient Connections of Radegonde Lambert’s descendants.

It’s worth noting here that when evaluating rare haplogroups, their Ancient Connections may reach far back in time. For example, if a Native American haplogroup only has a few Ancient Connections within the Americas, the rest of their Ancient Connections, if any, will be found on another continent. Failing to read the results thoroughly and thoughtfully could lead to an inappropriate and incorrect conclusion.

For example, haplogroup X is found in Eurasia prior to the migrated of people across Beringia, the now-submerged landmass connecting Asia with Alaska, to become the indigenous people of the Americas. Therefore, if there are less than 30 closer X2a Ancient Connections, one would expect to find Ancient Connections reflecting that continental Asian, or even Eurasian, heritage far back in time.

Notable Connections

One final tip for both Y-DNA and mitochondrial DNA is to check Notable Connections and selectively add them to your spreadsheet, if appropriate. Sometimes you’ll find people there that are both Notable and Ancient.

Not that we need more evidence about whether Radegonde Lambert’s matrilineal ancestors were Native or European, but Notable Connections provides us with one more corroborating piece of evidence.

Cangrande della Scala was an Italian nobleman who lived around 1300. He and Radegonde share a haplogroup X2b1″79 ancestor in Europe around 9000 years ago, which was after the Native people had crossed Siberia and Beringia to begin settling Canada and the Americas.

If there was any question left about Radegonde Lambert’s origins, Ancient Connections resolved it, with a backup volley from Notable Connections.

Radegonde Lambert was my ancestor, so I’m going to build her Ancient Connections spreadsheet and savor every discovery, but if I were simply seeking confirmation of or the answer to the question of whether Radegonde Lambert was Native American or European, I need look no further.

Mitochondrial DNA Case Study

In the article, Mitochondrial DNA A-Z: A Step-by-Step Guide to Matches, Mitotree and mtDNA Discover, I wrote in detail about utilizing mitochondrial DNA to break through genealogy brick walls.

My goal was to detremine if Catherine LeJeune, Edmee LeJeune and Jeanne LeJeune dit Briard were sisters or at least matrilineal relatives. Fortunately, we had several testers.

As it turned out, Catherine and Edmee were European sisters, but Jeanne did not share a matrilineal ancestor with Catherine and Edmee. Jeanne was Native American.

Next, we wanted to discover as much information about the LeJeune sisters as possible.

I created an Ancient Connections spreadsheet for the LeJeune sisters and included those results in my analysis, so please take a look. Their Ancient Connections were unexpected and simply astounding.

You literally never know who is waiting for you, nor the message they hold, just waiting to be delivered.

Ancient Connections are clues from your ancestors.

_____________________________________________________________

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

Subscribe!

If you haven’t already subscribed, it’s free. You’ll receive an e-mail whenever I publish by clicking the “follow” button at the top of the main blog page, here.

Help Keep This Blog Free

I receive a small commission when you click a vendor link in my articles and purchase that item. This does NOT increase your price but helps me keep the lights on and this informational blog free for everyone. Please click on the affiliate 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 Uploads

Genealogy Products and Services

My Books

Genealogy Books

Genealogy Research

FamilyTreeDNA 2023 Update – Past, Present and Future

At the FamilyTreeDNA International Conference on Genetic Genealogy, held November 3-5 in Houston for group project administrators, product and feature updates were scattered across both days in various presentations.

I’ve combined the updates from FamilyTreeDNA into one article.

I’ve already written two articles that pertain to the conference.

FamilyTreeDNA has already begun rolling the new Y DNA haplogroups from Family Finder autosomal tests, which I wrote about here:

I still have at least two more articles to publish from this conference that was chocked full of wonderful information from a wide range of talented speakers.

Past, Present, and Future with Katy Rowe-Schurwanz

Katy Rowe-Schurwanz, FamilyTreeDNA’s Product Manager, provided an update on what has been accomplished in the four and a half years since the last conference, what’s underway now, and her wish list for 2024.

Please note the word “wish list.” Wish list items are NOT commitments.

Recent Milestones

A lot has been happening at FamilyTreeDNA since the last conference.

Acquisition and Wellness Bundles

As everyone is aware, at the end of 2020, myDNA acquired Gene by Gene, the parent company of FamilyTreeDNA, which included the lab. As a result, the FamilyTreeDNA product menu has expanded, and wellness bundles are now available for FamilyTreeDNA customers.

If you’re interested, you can order the Wellness product in a bundle with a Family Finder test, here.

You can add the Wellness product for $39 if you’ve already tested.

New TIP (Time Prediction) STR Report

Did you notice that the old TIP report for Y DNA STR markers was replaced with an updated version several months ago?

To view the new report, sign on and select your Y DNA matches. At the far right of each match you’ll see these three icons representing a pedigree chart, notes, and the TIP (Time Predictor) report.

The updated TIP report includes wonderful new graphs and age estimates for each match category, which you can read about, here. Each category, such as 67-marker matches, has time estimates in which a common ancestor might have lived at each possible genetic distance.

Math is our friend, and thankfully, someone else has done it for us!

Please note that the Big Y SNP dates are MUCH more accurate for a variety of reasons, not limited to the instability and rapid mutation rate of STR mutations.

MyOrigins3

MyOrigins3, FamilyTreeDNA’s ethnicity offering, added over 60 new reference populations for a total of 90, plus chromosome painting. You can read about MyOrigins features here, and the white paper, here.

This is one of my favorite improvements because it allows me to identify the segment location of my population ancestries, which in turn allows me to identify people who share my minority segments such as Native American and African.

Due to a lack of records, these relationships are often exceedingly difficult to identify, and MyOrigins3 helps immensely.

Additional Releases

Additional products and features released since the last conference include:

Discover

Released in July 2022, Discover is the amazing new free product that details your ancestor’s Y DNA “story” and his walk through time and across the globe.

In the past 18 months, all of the Discover features are new, so I’m only making a brief list here. The great thing is that everyone can use Discover if you know or can discover (pardon the pun) the haplogroup of your ancestral lines. Surname projects are often beneficial for finding your lineages.

  • Haplogroup Story includes haplogroup location, ages derived from the earliest known ancestor (EKA) of your matches, and ancient DNA samples. Please be sure you’ve entered or updated your EKA, and that the information is current. You can find instructions for how to update or add your EKA here.
  • A recent addition to the haplogroup story includes Haplogroup Badges.
  • Country Frequency showing where this haplogroup is found with either a table view or an interactive map
  • Famous and infamous Notable Connections, including Mayflower passengers, Patriots from the American Revolution, US presidents, royal houses, artists, musicians, authors, pirates, sports figures, scientists, and more.

If you know of a proven connection to a notable figure, contact customer support and let them know! Notable connections are added every week.

One famous Discover connection is Ludwig von Beethoven which resulted from a joint academic study between FamilyTreeDNA and academic researchers. It’s quite a story and includes both a mystery and misattributed parentage. You can see if you match on Discover and read about the study, here.

  • Updated Migration Map, including locations of select ancient DNA sites
  • The Time Tree, probably the most popular Discover report, shows the most current version of the Y DNA phylotree, updated weekly, plus scientifically calculated ages for each branch. Tree node locations are determined by your matches and their EKA countries of origin. I wrote about the Time Tree, here.
  • Anticipated in early 2024, the EKA and block tree matches will also be shown on the Time Tree in Discover for individual Big Y testers, meaning they will need to sign in through their kits.
  • The Group Time Tree, visible through group projects, takes the Time Tree a step further by including the names of the EKA of each person on the Time Tree within a specific project. Information is only displayed for project members who have given permission to include their data. You can select specific project groupings to view, or the entire project. I wrote about the Group Time Tree here and here.
  • Globetrekker is an exclusive Big Y mapping feature discussed here, here, here, and here.
  • Ancient Connections includes more than 6,100 ancient Y DNA results from across the globe, which have been individually analyzed and added for matching in Discover. Ancient Connections serve to anchor haplogroups and provide important clues about matches, migration paths and culture. New connections are added weekly or as academic papers with adequate Y DNA coverage are released.
  • Your Ancestral Path, which lists the haplogroups through every step from the tester back to Y Adam and beyond. Additional information for each haplogroup in your path includes “Time Passed” between haplogroups, and “Immediate Descendants,” meaning haplogroups that descend from each subclade. New columns recently added include “Tested Modern Descendants” and “Ancient Connections.”
  • Suggested Projects include surname, haplogroup, and geographic projects. Katy said that people joining projects are more likely to collaborate and upgrade their tests. You can also see which projects other men with this haplogroup have joined, which may well be projects you want to join too.
  • Scientific Details provides additional information, such as each branch’s confidence intervals and equivalent variables (SNPs). You can read more here.
  • Compare Haplogroups is the most recent new feature, added just last month, which allows you to enter any two haplogroups and compare them to determine their most recent common ancestral haplogroup. You can read about Compare Haplogroups, here.

Please note that the Studies feature is coming soon, providing information about studies whose data has been included in Discover.

You can read about Discover here, here, here, and here.

If you’re interested, FamilyTreeDNA has released a one-minute introduction to Y DNA and Discover that would interest new testers, here.

Earliest Known Ancestor (EKA) Improvement

Another improvement is that the earliest known ancestor is MUCH easier to enter now, and the process has been simplified. The EKAs are critical for Discover, so PLEASE be sure you’ve entered and updated your EKA.

Under the dropdown beside your name in the upper right-hand corner of your personal page, select Account Settings, then Genealogy and Earliest Known Ancestors. Complete the information, then click on “Update Location” to find or enter the location on a map to record the coordinates.

It’s easy. Just type or drop a pin and “Save.”

Saving will take you back to the original EKA page. Save that page, too.

Recommended Projects on Haplogroups & SNPs Page

You’re probably aware that Discover suggests projects for Y DNA testers to join, but recommended haplogroup projects are available on each tester’s pages, under the Y DNA Haplotree & SNPs page, in the Y DNA STR results section.

If there isn’t a project for your immediate haplogroup, just scroll up to find the closest upstream project. You can also view this page by Variants, Surnames and Countries.

This is a super easy tool to use to view which surnames are clustered with and upstream of your haplogroup. With Family Finder haplogroups being assigned now, I check my upstream haplogroups almost daily to see what has been added.

For example, my Big Y Estes results are ten branches below R-DF49, but several men, including Estes testers, have been assigned at this level, thanks to Y DNA haplogroups from Family Finder testing. I can now look for these haplogroups in the STR and Family Finder matches lists and see if those men are receptive to Big Y testing.

Abandoned Projects

Sometimes group project administrators can no longer function in that capacity, resulting in the project becoming abandoned. FamilyTreeDNA has implemented a feature to help remedy that situation.

If you discover an abandoned project, you can adopt the project, spruce things up, and select the new project settings. Furthermore, administrators can choose to display this message to recruit co-administrators. I need to do this for several projects where I have no co-admin.

If you are looking for help with your project, you can choose to display the button
through the Project Profile page in GAP. For non-project administrators, if you’d like to help, please email the current project administrators.

New Kit Manager Feature

FamilyTreeDNA has added a “Kit Manager” feature so that an individual can designate another person as the manager of their kit.

This new setting provides an avenue for you to designate someone else as the manager of your DNA test. This alerts FamilyTreeDNA that they can share information with both of you – essentially treating your designated kit manager the same as you.

If you’re the kit manager for someone else, you NEED to be sure this is completed. If that person is unavailable for some reason, and support needs to verify that you have legitimate access to this kit, this form and the Beneficiary form are the ONLY ways they can do that.

If your family member has simply given you their kit number and password, and for some reason, a password reset is required, and their email address is the primary contact – you may be shut out of this kit if you don’t complete this form.

Beneficiary Page

Additionally, everyone needs to be sure to complete the Beneficiary page so that in the event of your demise, FamilyTreeDNA knows who you’ve designated to access and manage your DNA account in perpetuity. If you’ve inherited a kit, you need to add a beneficiary to take over in the event of your death as well.

What is FamilyTreeDNA working on now?

Currently in the Works

Katy moved on to what’s currently underway.

Privacy and Security

Clearly, the unauthorized customer data exposure breach at 23andMe has reverberated through the entire online community, not just genetic genealogy. You can read about the incident here, here, here, and here.

FamilyTreeDNA has already taken several steps, and others are in development and will be released shortly.

Clearly, in this fast-moving situation, everything is subject to change.

Here’s what has happened and is currently planned as of today:

  • Group Project Administrators will be required to reset their password soon.

Why is this necessary?

Unauthorized access was gained to 23andMe accounts by people using the same password for multiple accounts, combined with their email as their user ID. Many people use the same password for every account so that they can remember it. That means that all a hacker needs to do is breach one account, and they can use that same information to “legitimately” sign in to other accounts. There is no way for the vendor to recognize this as unauthorized since they have both your user ID and password.

That’s exactly what happened at 23andMe. In other breaches, this information was exposed, and hackers simply tried the same username and password combination at 23andMe, exposing the entire account of the person whose account they signed in “as.” This includes all of their matches, genetic tree, shared matches, matches of matches, ethnicity, and segments. They could also have downloaded both the match list and the raw DNA file of the compromised account.

At FamilyTreeDNA, project administrators can select their own username, which could be their email, so they will be required to reset their password.

Additional precautions have been put in place on an interim basis:

  • A pause in the ability to download match and segment information.
  • A pause in accepting 23andMe uploads.

Administrators will also be required to use two-factor authentication (2FA.) To date, two of the four major vendors are requiring 2FA. I would not be surprised to see it more broadly. Facebook recently required me to implement 2FA there, too, due to the “reach” of my postings, but 2FA is not required of everyone on Facebook.

Please note that if you received an email or message that is supposedly from any vendor requiring 2FA, GO DIRECTLY TO THAT VENDOR SITE AND SIGN IN.  Never click on a link in an email you weren’t expecting. Bad actors exploit everything.

Customers who are not signing in as administrators are not required to implement 2FA, nor will they be required to reset their password.

Personally, I will implement 2FA as soon as it’s available.

While 2FA is an extra step, it’s easy to get used to, and it has already literally saved one of my friends from an authorized hack on their primary and backup email accounts this week. Another friend just lost their entire account on Facebook because someone signed in as them. Their account was gone within 15 minutes.

2FA is one of those things you don’t appreciate (at all) until it saves you, and then, suddenly, you’re incredibly grateful.

At this point in time, FamilyTreeDNA users will NOT be required to do a password reset or implement 2FA. This is because customers use a kit number for sign-in and not a username or email address. I would strongly recommend changing your password to something “not easy.” Never reuse passwords between accounts.

I really, really want you to visit this link at TechRepublic and scroll down to Figure A, which shows how long it takes a hacker to crack your password. I guarantee you, it’s MUCH quicker than you’d ever expect.

Kim Komando wrote about this topic two years ago, so compare the two charts to see how much easier this has become in just two years.

Again, if you receive an email about resetting your password, don’t click on a link. Sign in independently to the vendor’s system, but DO reset your password.

FamilyTreeDNA also engages in additional security efforts, such as ongoing penetration testing.

New Permissions

Additionally, at FamilyTreeDNA, changes were already in the works to separate out at least two permissions that testers can opt-in to without granting project administrators Advanced rights.

  • Download data
  • Purchase tests

The ability to purchase tests can be very important because it allows administrators to order and pay for tests or upgrades on behalf of this tester anytime in the future.

Family Finder Haplogroups

FamilyTreeDNA has already begun releasing mid-level Y DNA haplogroups for autosomal testers in a staggered rollout of several thousand a day.

I wrote about this in the article, FamilyTreeDNA Provides Y DNA Haplogroups from Family Finder Autosomal Tests, so I’m not repeating all of that information here – just highlights.

  • The Family Finder haplogroup rollout is being staggered and began with customers on the most recent version of the testing chip, which was implemented in March of 2019.
  • Last will be transfers/uploads from third parties.
  • Haplogroups resulting from tests performed in the FTDNA labs will be visible to matches and within projects. They will also be used in both Discover and the haplotree statistics. This includes Family Finder plus MyHeritage and Vitagene uploads.
  • Both MyHeritage and Vitagene are uploaded or “transferred” via an intracompany secure link, meaning FamilyTreeDNA knows that their information is credible and has not been manipulated.
  • Haplogroups derived from tests performed elsewhere will only be visible to the user or a group administrator viewing a kit within a project. They will not be visible to matches or used in trees or for statistics.
  • Any man who has taken a Y DNA STR test will receive a SNP-confirmed, updated haplogroup from their Family Finder test that replaces their predicted haplogroup from the STR test.

Please read this article for more information.

New Discover Tools and Updates

Discover content continues to be updated, and new features are added regularly, creating an increasingly robust user experience.

Soon, group administrators will be able to view all Discover features (like Globetrekker) when viewing kits of project members who have granted an appropriate level of access.

Ancient and Notable connects are added weekly, and a new feature, Study Connections, will be added shortly.

Study Connections is a feature requested by customers that will show you which study your academic matches came from. Today, those results are used in the Y DNA tree, but the source is not detailed.

Anticipated in early 2024, the EKA and block tree matches will also be shown on the Time Tree in Discover for individual Big Y testers (not publicly).

Big Y FaceBook Group

FamilyTreeDNA has ramped up its social media presence. They launched the Big Y Facebook group in July 2023, here, which currently has just under 9000 members. Several project administrators have volunteered their time to help manage the group.

FamilyTreeDNA Blog

In addition, FamilyTreeDNA is publishing at least one blog article each week, and sometimes more. You can view or subscribe here. Some articles are written by FamilyTreeDNA staff, but project administrators and customers author other content.

Multi-Language Support

Translation of the main FamilyTreeDNA website and results pages to Spanish has begun, with more languages planned soon.

Paypal, Payments, and Gift Cards

Paypal has been added as a payment selection, along with a PayPal option that provides the ability to make payments.

Additionally, a gift card can be purchased from the main page.

Million Mito Project & Mitotree

Work on the Million Mito Project is ongoing.

The Million Mito Project was launched in 2020 as a collaborative effort between FamilyTreeDNA’s Research & Development Team and the scientific portion of the Genographic Project. I’m a team member and wrote about the Million Mito Project, here.

We’re picking up from where the Phylotree left off in 2016, analyzing 20 times more mtDNA full sequences and reimagining the mtDNA Haplotree. By examining more mtDNA data and applying the processes that allowed FamilyTreeDNA to build the world’s largest Y DNA Haplotree, we can also create the world’s largest Mitotree.

In 2022, the first update was released, authored by the Million Mito team, with the discovery of haplogroup L7. You can read about this amazing discovery rooted deep in the tree here, here, and here. (Full disclosure: I’m a co-author.)

Not only that, but “Nature Scientific Reports” selected this article as one of five named Editor’s Choice in the Mitogenomics category, here. In the science world, that’s a HUGE deal – like the genetic Emmy.

Here’s one example of the type of improvements that can be expected. Currently, the formation of haplogroup U5a2b2a reaches back to about 5000 years ago, but after reanalysis, current branches originated between 500 and 2,500 years ago, and testers are clustered more closely together.

This is SOOO exciting!!!

Just as Discover for Y DNA results was built one feature at a time, the same will be true for MitoDiscover. That’s my name, not theirs.

As the new Mitotree is rolled out, the user interface will also be updated, and matching will function somewhat differently. Specifically, it’s expected that many more haplogroups will be named, so today’s matching that requires an exact haplogroup match to be a full sequence match will no longer work. That and other matching adjustments will need to be made.

I can hardly wait. I have so many results I need to be able to view in a tree format and to place in a timeframe.

You can be included in this exciting project, learn more about your matrilineal (mother’s) line, and hopefully break down some of those brick walls by taking the full sequence mitochondrial DNA test, here.

After the new Mitotree is rolled out and the Y DNA Family Finder haplogroups are completed, Family Finder customers, where possible, will also receive at least a basic-level mitochondrial haplogroup. Not all upload files from other vendors include mtDNA SNPs in their autosomal files. The mitochondrial Family Finder haplogroup feature isn’t expected until sometime in 2025, after the new tree and MitoDiscover are complete.

The Future

What’s coming later in 2024, or is ongoing?

Privacy Laws

Most people aren’t aware of the new privacy laws in various states, each of which has to be evaluated and complied with.

The effects of these changes will be felt in various areas as they are implemented.

New Kits Opted Out of IGG

Since late August, all new FTDNA kits are automatically opted OUT of Investigative Genetic Genealogy (IGG) by default.

Regular matching consent and IGG matching consent have been separated during onboarding.

Biobanking Separate Consent

Another consent change is to have your sample biobanked. FamilyTreeDNA has always maintained your sample for “roughly 25 years.” You could always ask to have your sample destroyed, but going forward, you will be asked initially if you want your sample to be retained (biobanked.) It’s still free.

Remember, if someone declines the biobanking option, their DNA will be disposed of after testing. They can’t order upgrades without submitting a new sample. Neither can their family after they’re gone. I ordered my mother’s Family Finder test many years after she had gone on to meet our ancestors – and I’m incredibly grateful every single day.

MyHeritage Tree Integration

An exciting change coming next year is tree integration with MyHeritage.

And no, before any rumors get started, FAMILYTREEDNA IS NOT MERGING WITH MYHERITAGE. It’s a beneficial marriage of convenience for both parties.

In essence, one of the primary focuses of MyHeritage is trees, and they do that very well. FamilyTreeDNA is focused on DNA testing and their existing trees have had issues for years. MyHeritage trees are excellent, support pedigree collapse, provide search capabilities that are NOT case sensitive, SmartMatching, and much more.

If you don’t have a MyHeritage account, creating one is free, and you will be able to either port your existing FamilyTreeDNA tree, or begin one there. If you’re already a MyHeritage member, FamilyTreeDNA and MyHeritage are planning together for a smooth integration for you. More detailed information will be forthcoming as the integration progressed and is released to customers.

You’ll be able to connect multiple kits to your tree at MyHeritage, just like you can at FamilyTreeDNA today, which enables family matching, aka bucketing.

You can also have an unlimited number of different trees at MyHeritage on the same account. You’re not limited to one.

After you link your initial FamilyTreeDNA kit to the proper person in your MyHeritage tree, you’ll be able to relink any currently linked kits.

MyHeritage will NOT receive any DNA information or match information from FamilyTreeDNA, and yes, you’ll be able to use the same tree independently at MyHeritage for their DNA matching.

You’ll still be able to view your matches’ trees, except it will actually be the MyHeritage tree that will be opened at FamilyTreeDNA in a new tab.

To the best of my knowledge, this is a win-win-win, and customers of both companies aren’t losing anything.

One concern is that some FamilyTreeDNA testers have passed away and cannot transition their tree, so a view-only copy of their tree will remain at FamilyTreeDNA so that their matches can still see their tree.

Big Y Infrastructure

Katy mentioned that internal discussions are taking place to see what changes could be made to improve things like matching and test processing times.

No changes are planned for SNP or STR coverage, but discussions are taking place about a potential update to the Telomere to Telomere (T2T) reference. No promises about if or when this might occur. The last part of the human genome to be fully sequenced, the T2T reference model includes the notoriously messy and unreliable region of the Y chromosome with many repeats, duplications, gaps, and deletions. Some data from this region is probably salvageable but has previously been omitted due to the inherent problems.

I’m not sure this shouldn’t be in the next section, the Wishlist.

Wishlist

There are lots of good things on the Wishlist – all of which I’d love.

I’d have difficulty prioritizing, but I’d really appreciate some Family Finder features in addition to the items already discussed. I’d also like to see some GAP (administrator) tool updates.

Which items do you want to see most?

Katy said that FamilyTreeDNA is NOT planning to offer a Whole Genome Sequencing (WGS) test anytime soon. So, if you’re holding your breath, please don’t. Based on what Katy did say, WGS is very clearly not a consideration in 2024 and I don’t expect to see it in 2025 either unless something changes drastically in terms of technology AND pricing.

While WGS prices have come down, those consumer tests are NOT scanned at the depth and quality required for advanced tests like the Big Y or even Family Finder. Normally consumer-grade WGS tests are scanned between 2 and 10 times, where the FamilyTreeDNA lab scans up to 30 times in order to obtain a quality read. 30X scans are in the same category as medical or clinical grade whole genome scans. Significantly higher quality scans mean significantly higher prices, too, so WGS isn’t ready for genealogy prime time yet.

Additionally, commercially available WGS tests are returned to the customer “as is,” and you’re left to extract the relevant SNPs and arrange them into files, or find someone else to do that. Not to mention, in order to preserve the integrity of their database, FamilyTreeDNA does not accept Y or mitochondrial DNA uploads.

Recently, I saw two WGS files with a 20-25% no-call rate for the autosomal SNPs required for the Family Finder test. Needless to say, that’s completely unacceptable. Some tools attempt to “fix” that mess by filling in the blanks in the format of either a 23andMe or Ancestry file so you can upload to vendors, but that means you’re receiving VERY unreliable matches.

The reason none of the major four vendors offer WGS testing for genealogists is because it’s not financially feasible nor technologically beneficial. The raw data file alone won’t fit on most home computers. WGS is just not soup yet, and it won’t be for the general consuming public, including relevant tools, for at least a few years.

I’ve had my whole genome sequenced, and trust me, I wish it were feasible now, but it just isn’t.

Suggestions Welcomed

Katy said that if you have suggestions for items NOT on the wishlist today to contact her through support.

I would add that if you wish to emphasize any specific feature or need above others, please send that feedback, politely, to support as well.

Katy ended by thanking the various teams and individuals whose joint efforts together produce the products we use and enjoy today.

Lab Update

Normally, DNA testing companies don’t provide lab updates, but this conference is focused on group project administrators, who are often the most dedicated to DNA testing.

A lab update has become a tradition over the years.

Linda Jones, Lab Manager, provided a lab update.

You may or may not know that the FamilyTreeDNA lab shifted gears and stepped up to handle Covid testing.

Supply-chain shortages interfered, but the lab ran 24×7 between 2020 and 2022.

Today, the lab continues to make improvements to processes with the goal of delivering the highest quality results in a timely manner.

On Monday, after the conference, attendees could sign up for a lab tour. You might say we are a rather geeky bunch and really enjoy the science behind the scenes.

Q&A and Thank You

At the end of the conference, the FamilyTreeDNA management team answered questions from attendees.

Left to right, Daniel Au, CTO; Linda Jones, Lab Manager; Katy Rowe-Schurwanz, Product Manager; Clayton Conder, VP Marketing; Goran Runfeldt, Head of R&D; and Andrew Gefre, Development Manager. Not pictured, Jeremy Balkin, Support Manager; Kelly Jenkins, VP of Operations; and Janine Cloud, Group Projects Manager. Janine is also responsible for conferences and events, without whom there would have been no 2023 FamilyTreeDNA conference. Janine, I can’t thank you enough!

A huge thanks to all of these people and many others, including the presenters, CSRs,  IT, and other FamilyTreeDNA team members for their support during the conference, enabling us to enjoy the conference and replenish the well of knowledge.

_____________________________________________________________

Follow DNAexplain on Facebook, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase your price but helps me 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 Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research

The Best of 2022

It’s that time of year where we look both backward and forward.

Thank you for your continued readership! Another year under our belts!

I always find it interesting to review the articles you found most interesting this past year.

In total, I published 97 articles in 2022, of which 56 were directly instructional about genetic genealogy. I say “directly instructional,” because, as you know, the 52 Ancestors series of articles are instructional too, but told through the lives of my ancestors. That leaves 41 articles that were either 52 Ancestors articles, or general in nature.

It has been quite a year.

2022 Highlights

In a way, writing these articles serves as a journal for the genetic genealogy community. I never realized that until I began scanning titles a year at a time.

Highlights of 2022 include:

Which articles were your favorites that were published in 2022, and why?

Your Favorites

Often, the topics I select for articles are directly related to your comments, questions and suggestions, especially if I haven’t covered the topic previously, or it needs to be featured again. Things change in this industry, often. That’s a good thing!

However, some articles become forever favorites. Current articles don’t have enough time to amass the number of views accumulated over years for articles published earlier, so recently published articles are often NOT found in the all-time favorites list.

Based on views, what are my readers’ favorites and what do they find most useful?

In the chart below, the 2022 ranking is not just the ranking of articles published in 2022, but the ranking of all articles based on 2022 views alone. Not surprisingly, six of the 15 favorite 2022 articles were published in 2022.

The All-Time Ranking is the ranking for those 2022 favorites IF they fell within the top 15 in the forever ranking, over the entire decade+ that this blog has existed.

Drum roll please!!!

Article Title Publication Date 2022 Ranking All-Time Ranking
Concepts – Calculating Ethnicity Percentages January 2017 1 2
Proving Native American Ancestry Using DNA December 2012 2 1
Ancestral DNA Percentages – How Much of Them in in You? June 2017 3 5
AutoKinship at GEDmatch by Genetic Affairs February 2022 4
442 Ancient Viking Skeletons Hold DNA Surprises – Does Your Y or Mitochondrial DNA Match? Daily Updates Here September 2020 5
The Origins of Zana of Abkhazia July 2021 6
Full or Half Siblings April 2019 7 15
Ancestry Rearranged the Furniture January 2022 8
DNA from 459 Ancient British Isles Burials Reveals Relationships – Does Yours Match? February 2022 9
DNA Inherited from Grandparents and Great-Grandparents January 2020 10
Ancestry Only Shows Shared Matches of 20 cM and Greater – What That Means & Why It Matters May 2022 11
How Much Indian Do I Have in Me??? June 2015 12 8
Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links March 2022 13
FamilyTreeDNA DISCOVER Launches – Including Y DNA Haplogroup Ages June 2022 14
Ancient Ireland’s Y and Mitochondrial DNA – Do You Match??? November 2020 15

2023 Suggestions

I have a few articles already in the works for 2023, including some surprises. I’ll unveil one very soon.

We will be starting out with:

  • Information about RootsTech where I’ll be giving at least 7 presentations, in person, and probably doing a book signing too. Yes, I know, 7 sessions – what was I thinking? I’ve just missed everyone so very much.
  • An article about how accurately Ancestry’s ThruLines predicts Potential Ancestors and a few ways to prove, or disprove, accuracy.
  • The continuation of the “In Search Of” series.

As always, I’m open for 2023 suggestions.

In the comments, let me know what topics you’d like to see.

_____________________________________________________________

Follow DNAexplain on Facebook, here or follow me on Twitter, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

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 Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research

“Nature scientific reports” 2022 Editor’s Choice Collection – We Made It!!!!

You’ll excuse me while I jump for joy and do a happy dance. You might say I’m over the moon, pardon the pun. There’s nothing to lift your spirits quite like a pleasant surprise!I

In June, when our article, African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing was published, you may or may not have noticed that the journal name was “nature, scientific reports.” No, they don’t capitalize the words in the journal’s title.

I know I didn’t mention how difficult is it to get published in this particular journal, so you’ll just have to trust me about how many grey hairs I can attribute to that process.

Taking that into account, imagine my surprise today when I discovered our paper in the Editor’s Choice collection for 2022. That’s not only amazing, it was entirely unexpected. Ironically, they didn’t notify the authors, so we found out quite by accident.

“Congratulations!!!”

“For what?”

“Editor’s Choice”

“Editor’s Choice for what? Where?”

“Nature scientific reports – the Editor’s Choice articles for 2022. Your L7 paper. It’s there in Ancient DNA.”

“WHAT?????”

I had to look right away, of course, never mind that I was standing in line at the bank at the time. I hope they didn’t notice the strange woman giving out a little yelp and accompanying leap. Ok, maybe it was a tiny leap, more like a happy hop, but it still counts.

Here, you can look too!

I was dumbstruck. Truth be told, I didn’t even realize there WAS a yearly Editor’s Choice collection. My bad. I probably shouldn’t admit that😊

The editor’s intro mentions that Svante Pääbo won the Nobel Prize in Physiology or Medicine this year for his work over the past several years on sequencing the genomes of extinct hominins, founding the field of paleogenetics.

Excuse my fan-girl exuberance, but it has truly been a banner year for genetics. I can’t help but be incredibly geeked! I had to read the announcement two or three times to be sure I was seeing what I was seeing.

Our paper was selected as one of 5 in the Mitogenomics section of the ancient DNA category and has accumulated just over 9700+ views which is actually amazing for a scientific paper. So, thank you everyone who read it. I’m glad we made the paper “open access,” which means free.

I wrote about our discovery, here and we published a video, here, but our paper is slightly different than the ancient DNA of the other papers in that category. The other papers utilize DNA extracted from ancient remains, but the “ancient DNA” of haplogroup L7, reaching back 100,000 years, was discovered in living people, with the exception of one 16,000-year-old ancient sample from Malawi that had initially been misclassified as L5, but has since been moved to L7.

That’s super-exciting because we know that this hen’s-teeth rare lineage still exists in a few people. Maybe you’re one of them. Maybe you carry a different but equally-as-rare mitochondrial lineage – your mother’s direct maternal line.

I hope you’ll test your mitochondrial DNA, here, to see what secrets are waiting for you.

_____________________________________________________________

Follow DNAexplain on Facebook, here or follow me on Twitter, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

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 Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research

Mitochondrial Eve Gets a Great-Granddaughter: African Mitochondrial Haplogroup L7 Discovered

Such wonderful news today!

We have a birth announcement, of sorts, detailed in our new paper released just today,  “African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing.”

Woohoo, Mitochondrial Eve has a new great-granddaughter!

Back in 2018, Goran Runfeldt and Bennett Greenspan at FamilyTreeDNA noticed something unusual about a few mitochondrial DNA sequences, but there weren’t enough sequences to be able to draw any conclusions. As time went on, more sequences became available, both in the FamilyTreeDNA database and in the academic community, including an ancient sequence.

This group of sequences did not fit cleanly into the phylogenetic tree as structured and seemed to cluster together, but more research and analysis were needed.

Were these unique sequences a separate branch? One branch or several? What would creating that branch do to the rest of the tree?

Given that Phylotree, last updated in 2016, did not contain an applicable branch, what were we to do with these puzzle pieces that really didn’t fit?

These discussions, and others similar, led to the decision to launch the Million Mito Project to update the mitochondrial phylogenetic tree which is now 6 years old and seriously out-of-date. For the record, phylogenetics on this scale is EXTREMELY challenging, which is probably why Phylotree hasn’t been updated, but that’s a topic for another article, another day. Today is the day to celebrate haplogroup L7.

Haplogroup L7

The Million Mito team knew there were lots of candidate haplogroups waiting to be formed near the ends of the branches of the phylotree, but what we didn’t expect was a new haplogroup near the root of the tree.

Put another way, in terms that genealogists are used to, the new branch is Eve’s great-granddaughter.

Haplogroup L now has 8 branches, instead of 7, beginning with L0. We named this new branch haplogroup L7 in order not to disrupt the naming patterns in the existing tree.

Let’s take a look.

I used the phylogenetic tree from our paper and added Eve.

Just to be clear, we aren’t talking literal daughters and granddaughters. These are phylogenetic daughters which represent many generations between each (known) branch. Of course, we can only measure the branches that survived and are tested today or are found in ancient DNA.

The only way we have of discovering and deciphering Eve and her “tree” of descendants is identifying mutations that occurred, providing breadcrumbs back in time that allow us to reconstruct Eve’s mitochondrial DNA sequence.

Those mutations are then carried forever in daughter branches (barring a back-mutation). This means that, yes, you and I have all of those mutations today – in addition to several more that define our individual branches.

You can see that Eve has two daughter branches. One branch, at left, is L0.

Eve’s daughter to the right, which I’ve labeled, is the path to the new L7 branch.

Before this new branch was identified, haplogroup L5 existed. Now, Eve has a new great-granddaughter branch L5’7 that then splits into two branches; L5 and L7.

L5 is the existing branch, but L7 is the new branch that includes a few sequences formerly misattributed to L5.

Even more exciting, the newly discovered haplogroup L7 has sub-branches too, including L7a, L7a1, L7b1 and L7b2.

In fact, haplogroup L7 has a total of 13 sublineages.

How Cool is This?!!

Haplogroup L7 is 100,000 years old. This is the oldest lineage since haplogroup L5 was discovered 20 years ago. To put this in perspective, that’s about the same time the first full sequence mitochondrial DNA test was offered to genealogists.

It took 20 years for enough people to test, and two eagle-eyed scientists to notice something unusual.

Hundreds of thousands of people have had their mitochondrial DNA tested, and so far, only 19 people are assigned to haplogroup L7 or a subgroup.

One of those people, shown as L7a* on the tree above, is 80,000 years removed from their closest relative. Yes, their DNA is hens-teeth rare. No, they don’t have any matches at FamilyTreeDNA, just in case you were wondering😊

However, in time, as more people test, they may well have matches. This is exactly why I encourage everyone to take a mitochondrial DNA test. If someone is discouraged from testing, you never know who they might have matched – or how rare their DNA may be. If they don’t test, that opportunity is lost forever – to them, to other people waiting for a match, and to science.

Are there other people out there with this haplogroup, in either Africa or the diaspora? Let’s hope so!

With so few L7 people existing today, it looks like this lineage might have been on the verge of extinction at some point, but somehow survived and is now found in a few places around the world.

Ancient DNA

One 16,000-year-old ancient DNA sample from Malawi has been reclassified from L5 to L7.

This figure from the paper shows the distribution of haplogroup L within Africa, and the figure below shows the Haplogroup L7 range within Africa, with Tanzania having the highest frequency. Malawi abuts Tanzania on the Southwest corner.

Where in the World?

Checking on the public tree at FamilyTreeDNA, you can see the new L5’7 branch with L7 and sub-haplogroups beneath.

We find L7 haplogroups in present-day testers from:

  • South Africa
  • Kenya
  • Ethiopia
  • Sudan
  • United Arab Emirates
  • Yemen
  • Tanzania

It’s also found in people who live in two European countries now, but with their roots reaching back into Africa. Surprisingly, no known African-Americans have yet tested with this haplogroup. I suspect finding the haplogroup in the Americas is just a matter of time, and testing.

The FamilyTreeDNA customers who are lucky enough to be in haplogroup L7 have had their haplogroup badges updated.

If you are haplogroup L at FamilyTreeDNA, check and see if you have a new badge.

Credit Where Credit is Due

I want to give a big shout-out to my colleagues and co-authors. Dr. Paul Maier (lead author,) Dr. Miguel Vilar and Goran Runfeldt.

I can’t even begin to express the amount of heavy lifting these fine scientists did on the long journey from initial discovery to publication. This includes months of analysis, writing the paper, creating the graphics, and recording a video which will be available soon.

I’m especially grateful to people like you who test their DNA, and academic researchers who continue to sequence mitochondrial DNA in both contemporary and ancient samples. Without testers, there would be no scientific discoveries, nor genealogy matching. If you haven’t yet tested, you can order (or upgrade) a mitochondrial DNA test here.

I also want to thank both Bennett Greenspan, Founder, and President, Emeritus of FamilyTreeDNA who initially greenlit the Million Mito Project in early 2020, and Dr. Lior Rauschberger, CEO who continues to support this research.

FamilyTreeDNA paid the open access fees so the paper is free for everyone, here, and not behind a paywall. If you’re downloading the pdf, be sure to download the supplements too. Lots of graphics and images that enhance the article greatly.

Congratulations to Mitochondrial Eve for this new branch in her family tree. Of course, her family tree is your family and mine – the family of man and womankind!

_____________________________________________________________

Follow DNAexplain on Facebook, here or follow me on Twitter, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

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 Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research