Fun Genealogy Activities for Trying Times

My mother used to say that patience is a virtue.

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I’m afraid I’m not naturally a very virtuous person, at least not where patience is concerned. I don’t seem to take after my ancestor, Patience Brewster (1600-1634.) Perhaps those “patience” genes didn’t make it to my generation. Or maybe Patience wasn’t very patient herself.

Not only does patience not come naturally to me, it’s more difficult for everyone during stressful times. People are anxious, nerves are frazzled and tempers are short. Have you noticed that recently?

I guess you could say that what we’ve been enduring, in terms of both health issues and/or preparation for the Covid-19 virus along with the economic rollercoaster – not to mention the associated politics, is stress-inducing.

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Let’s see:

  • Worry about a slow-motion epidemic steamrollering the population as it wraps around the world – check.
  • Worry about family members – check.
  • Worry about TP, hand sanitizer, food, medication and other supplies – check.
  • Worry about jobs and income – check.
  • Worry about retirement accounts and medical bills – check.
  • Worry about long-term ramifications – check.

Nope, no stress here. What about you?

And yes, I’m intentionally understated, hoping to at least garner a smile.

Once you’ve stocked up on what you need and decided to stay home out of harm’s way – or more to the point, out of germ’s way – how can you feel more patient and less stressed?

I have some suggestions!

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The Feel Better Recipe

First, just accept that once you’ve done what you can do to help yourself, which includes minimizing exposure – there’s little else that you can do. I wrote about symptoms and precautions, here. The best thing you can do is wash, stay home and remain vigilant.

If someone you know or love doesn’t understand why we need to limit or eliminate social interaction at this point, here’s an article that explains how NOT to be stupid, as well as an article here about what flattening the curve means and why social distancing is our only prayer at this point to potentially avoid disaster. We are all in this together and we all have a powerful role to play – just by staying at home.

Educating and encouraging others to take precautionary steps might help, but worrying isn’t going to help anything because you can’t affect much beyond your own sphere of influence. As much as we wish we could affect the virus itself, or increase the testing supply, or influence good decision-making by others, we generally can’t.

What can we do, aside from sharing precautionary information and hoping that we are “heard?”

We can try to release the worry.

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If you sit there thinking about releasing the worry, which means you’re focused on worrying – that’s probably not going to be very productive.

Neither is drinking your entire supply of Jack Daniels in one sitting – not the least of which is because you may need that as hand sanitizer down the road a bit. Oh, wait, hand sanitizer is supposed to be more than 60% alcohol, which would be 120 proof. Never mind, go ahead and drink the Jack Daniels😊

What you really need is a distraction. Preferably a beneficial distraction that won’t give you a hangover. Not like my distraction this past month when the washing machine flooded through the floor into the basement including my office below. No, not that kind of distraction.

Some folks can “escape the world,” in a sense, by watching TV, but I’m not one of those people. I need to engage my mind with some sort of structure and I want to feel like I’m accomplishing something. If you’re a “TV” person, you’re probably watching TV now and not reading this anyway – so I’m guessing that’s not my readership audience, by and large.

Beneficial Distractions

Here are 20 wonderful ideas for fun and useful things to do – and guess what – they aren’t all genealogy related. Let’s start with something that will make you feel wonderful.

labyrinth

  1. Take a walk – outside, but not around other people. Your body and mind will thank you. Your body likes to move and exercise generates beneficial feel-good endorphins, reducing anxiety. Remember to take hand sanitizer with you and open doors by pushing with your arm or hip, if possible. Also, if you need to get fuel for your vehicle, take disposable gloves to handle the pump. Disinfectant, soap and water is your friend – maybe your best friend right now.

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  1. Read a book. Escapism, pure and simple. I have a stack of books just waiting. If you don’t, you can download e-books to your Kindle or iPad or phone directly from Amazon without going anyplace or have books delivered directly to your door. Try Libby Copeland’s The Lost Family, which you can order here. It’s dynamite. (My brother and my story are featured, which I wrote about here.) If you’d like DNA education, you can order Diahan Southard’s brand new book, Your DNA Guide: Step by Step Plans, here. I haven’t read Diahan’s book, but I’m familiar with the quality of her work and don’t have any hesitation about recommending it. (Let me know what you think.) And hey, you don’t even need hand sanitizer for this!

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  1. Check your DNA matches at all the vendors where you’ve tested. If you don’t check daily, now would be a good time to catch up. Not just autosomal matches, but also Y and mitochondrial at Family Tree DNA. Those tests often get overlooked. Maybe some of your matches have updated their trees or earliest known ancestor information.

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  1. Speaking of trees, update your trees on the three DNA/genealogy sites that support trees: FamilyTreeDNA, MyHeritage and Ancestry. Keeping your tree up to date through at least the 8th generation (including their children) enables the companies to more easily connect the dots for their helpful tools like Phased Family Matching aka bucketing at FamilyTreeDNA, Theories of Family Relativity aka TOFR at MyHeritage and ThruLines at Ancestry.

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  1. Connect your known matches to their appropriate place on your tree at Family Tree DNA, as illustrated above. This provides fuel for Family Tree DNA to be able to designate your matches as maternal or paternal, even if your mother and father haven’t tested. In this case, I’ve connected my first cousin once removed who matches me in her proper location in my tree. People who match my cousin and I both are assigned to my maternal bucket.

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  1. Order or upgrade a Y DNA or mitochondrial DNA test or a Family Finder autosomal test for you or a family member at Family Tree DNA. Upgrades, shown above, are easy if the tester has already taken at least one test, because DNA is banked at the lab for future orders. You don’t have to go anyplace to do this and DNA testing results and benefits last forever. Your DNA works for you 24x7x365.

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  1. Join a free project at FamilyTreeDNA. Those can be surname projects, haplogroup projects, regional projects such as Acadian AmeriIndian and other interest topics like American Indian. You can search or browse for projects of interest and collaborate with others. Projects are managed by volunteer administrators who obviously have an interest in the project’s topic.

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  1. At each of the vendors, find your highest autosomal match whom you cannot place as a relative. Work on their line via tree construction and then utilizing clustering using Genetic Affairs. I wrote about Genetic Affairs, an amazing tool, here, which you can try for free.

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  1. Check the FamilySearch WIKI for your genealogy locations by googling “Claiborne County, Tennessee FamilySearch wiki” where you substitute the location of where you are searching for “Claiborne County, Tennessee.” FamilySearch is free and the WIKI includes resources outside of FamilySearch itself, including paid and other free sites.

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  1. While you’re at it, if you haven’t already, create a FamilySearch account and create or upload a tree to FamilySearch. It will be connected to branches of existing trees to create one large worldwide tree. Yes, you’ll be frustrated in some cases because there are incorrect ancestors sometimes listed in the “big tree” – BUT – there are procedures in place to remediate that situation. The important aspect is that FamilySearch, which is free, provides hints and resources not available any other place for some ancestors. Not long ago, I found a detailed estate packet that I had no idea existed – for a female ancestor no less. You can search at FamilySearch for ancestors, genealogies, records and in other ways. New records become available often.  This will keep you occupied for days, I promise!

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  1. Begin a Novel Coronavirus Covid-19 Pandemic journal. Think of your descendants 100 years in the future. Wouldn’t you like to know what your great-grandparents were doing during the 1918 Spanish Flu Pandemic? Or even their siblings or neighbors, because that was likely similar to what your ancestors were doing as well. You don’t have to write much daily – just write. Not just facts, but how you feel as well. Are you afraid, concerned specifically about someone? What’s going on with you – in your mind? That’s the part of you that your descendants will long to know a century from now.

Quilt rose

  1. Create something with your hands. I made a quilt this week for an ailing friend, unrelated to this epidemic. No, I didn’t “have time” to do that, but I made time because this quilt is important, and I know they need the “get well’’” wishes and love that quilt will wrap them in. It always feels good to do something for someone else.

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  1. Garden, or in my case, that equates to pulling weeds. Not only is weeding productive, you can work off frustration by thinking about someone or something that upsets you as you yank those weeds out by their roots. Of course, that means you’ll have to first decide what is, and is not, a weed😊. That could be the toughest part.

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  1. At MyHeritage, you can use Irish records for free this month, plus try a free subscription, here in order to access all the rest of the millions of records available at MyHeritage. Check for Smart Matches for ancestors, shown above, and confirm that they are accurate, meaning that the ancestor the other person has in their tree is the same person as you have in your tree – even if they aren’t exactly identical. You don’t need to import any of their information, and I would suggest that you don’t without reviewing every piece of information individually. Confirming Smart Matches helps MyHeritage build Theories of Family Relativity – not to mention you may discover additional information about your ancestors. While you’re checking Smart Matches, who ARE those other people with your grandmother in their tree. Are they relatives who might have information that you don’t? This is a good opportunity to reach out. And what are those 12 pending record matches? Inquiring minds want to know. Let’s check.
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Click to enlarge.

  1. Check either NewsPapers.com or the Newspaper collection at MyHeritage, or both, systematically, for each ancestor. You never know what juicy tidbits you might discover about your ancestors. Often, things “forgotten” by families are the informative morsels you’ll want to know and are hidden in those local news articles. These newsy community newspapers bring the life and times of our ancestors to light in ways nothing else can. Wait, what? My Brethren ancestor, Hiram Ferverda, pleaded guilty to something??? I’d better read this article!

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  1. Interview your relatives. Make a list of questions you’d like for them to answer about themselves and the most distant common ancestors that they knew, or knew about. You can conduct interviews without being physically together via the phone or Skype or Facetime. Document what was said for the future, in writing, and possibly by recording as well. After someone has passed, hearing their voice again is priceless.

Upload download

  1. Transfer your DNA file to vendors that accept transfers, getting more bang for your testing dollars by finding more matches. 23andMe and Ancestry don’t accept transfers.  At MyHeritage and FamilyTreeDNA, transfers are free and so is matching, but advanced tools require a small unlock fee. I wrote a step-by-step series about how to transfer, here. Each article includes instructions for transferring from or to Ancestry, MyHeritage, 23andMe and FamilyTreeDNA. Don’t forget to upload to GedMatch for additional tools.

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  1. Focus on your most irritating brick wall and review what records you do, and don’t have that could be relevant. That would include local, county, state and federal records, tax lists, census, church records and minutes and local histories if they exist. Have you called the local library and asked about vertical files or other researchers? What about state archive resources? Don’t forget activities like google searches. Have you utilized all possible DNA clues, including Y DNA and mitochondrial DNA, if applicable? How about third-party tools like Genetic Affairs and DNAgedcom?

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  1. Try DNAPainter, for free. Painting your chromosomes and walking those segments back in time to your ancestors from whom they descended is so much fun. Not to mention you can integrate ethnicity and now traits, too. I’ve written instructions for using using DNAPainter in a variety of ways, here.

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  1. Expand your education by watching webinars at Legacy Family Tree Webinars. Many are free and a yearly subscription is very reasonable. Take a look, here.

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  1. Spring cleaning your house or desk. Ewww – cleaning – the activity that is never done and begins undoing itself immediately after you’ve finished? Makes any of the above 20 activities sound wonderful by comparison, right? I agree, so pick one and let’s get started!

Let me know what you find. Write about your search activities and discoveries in your Pandemic journal too.

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Thank you so much.

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DNA Testing Sales Decline: Reason and Reasons

If you’re involved in genetic genealogy, you’ve probably noticed the recent announcements by both 23andMe and Ancestry relative to workforce layoffs as a result of declining sales.

Layoffs

In January, 23andMe announced that it was laying off 100 people which equated to 14% of its staff.

Following suit, Ancestry this week announced that they are laying off 100 people, 6% of their work force. They discuss their way forward, here.

One shift of this type can be a blip, but two tends to attract attention because it *could* indicate a trend. Accordingly, several articles have been written about possible reasons why this might be occurring. You can read what TechCrunch says here, Business Insider here, and The Verge, here.

Depending on who you talk to and that person’s perspective, the downturn is being attributed to:

  • Market Saturation
  • No Repeat Sales
  • Privacy Concerns
  • FAD Over

Ok, So What’s Happening?

Between Ancestry and 23andMe alone, more than 26 million DNA tests have been sold, without counting the original DNA testing company, FamilyTreeDNA along with MyHeritage who probably have another 4 or 5 million between them.

Let’s say that’s a total of 30 million people in DNA databases that offer matching. The total population of the US is estimated to be about 329 million, including children, which means that one person in 10 or 11 people in the US has now tested. Of course, DNA testing reaches worldwide, but it’s an interesting comparison indicating how widespread DNA testing has become overall.

This slowing of new sales shouldn’t really surprise anyone. In July 2019, Illumina, the chip maker who supplies equipment and supplies to the majority of the consumer DNA testing industry said that the market was softening after a drop in their 2019 second quarter revenue.

Also last year, Ancestry and MyHeritage both announced health products, a move which would potentially generate a repeat sale from someone who has already tested their DNA for genealogy purposes. I suspected at the time this might be either a pre-emptive strike, or in response to slowed sales.

In November 2019, Family Tree DNA announced an extensive high-end health test through Tovana which tests the entire Exome, the portion of our DNA useful for medical and health analysis.

In a sense, this health focus too is trendy, but moves away from genealogy into an untapped area.

23andMe who, according to their website, has obtained $791 million in venture capital or equity funding has always been focused on medical research. In July of 2018 GlaxoSmithKline infused $300 million into 23andMe in exchange for access to DNA results of their 5 million customers who have opted-in to medical research, according to Genengnews. If you divide the 300 million investment by 5 million opted-in customers, 23andMe received $60 per DNA kit.

That 5 million number is low though, based on other statements by 23andMe which suggests they have 10 million total customers, 80% of which opt-in for medical research. That would be a total of 8 million DNA results available to investors.

Divide $791 million by 8 million kits and 23andMe, over the years, has received roughly $99 for each customer who has opted in to research.

We know who Ancestry has partnered with for research, but not how much Ancestry has received.

There’s very big money, huge money, in collaborating with Big Pharma and others. Given the revenue potential, it’s amazing that the other two vendors, Family Tree DNA and MyHeritage, haven’t followed suit, but they haven’t.

Additionally, in January, 23andMe sold the rights to a new drug it developed in-house as a potential treatment for inflammatory diseases for a reported (but unconfirmed by 23andMe) $5 million.

It’s ironic that two companies who just announced layoffs are the two who have partnered to sell access to their opted-in customers’ DNA results.

My Thoughts

I’ve been asked several times about my thoughts on this shift within the industry. I have refrained from saying much, because I think there has been way too much “hair on fire” clickbait reporting that is fanning the flames of fear, not only in the customer base, but in general.

I am sharing my thoughts, and while they are not entirely positive, in that there is clearly room for improvement, I want to emphasize that I am very upbeat about this industry as a whole, and this article ends very positively with suggestions for exactly that – so please read through.

Regardless of why, fewer new people are testing which of course results in fewer sales, and fewer new matches for us.

My suspicion is that each of the 4 reasons given above is accurate to some extent, and the cumulative effect plus a couple of other factors is the reason we’re seeing the downturn.

Let’s take a look at each one.

Market Saturation

Indeed, we’ve come a very long way from the time when DNA was a verboten topic on the old RootsWeb mailing lists and boards.

Early DNA adopters back then were accused of “cheating,” and worse. Our posts were deleted immediately. How times have changed!

As the technology matured, 23andMe began offering autosomal testing accompanied by cousin matching.

Ancestry initially stepped into the market with Y and mitochondrial DNA testing, but ultimately destroyed that database which included Y and mitochondrial DNA results from Relative Genetics, a company they had previously acquired. People in those databases, as well as who had irreplaceable samples in Sorenson, which Ancestry also purchased and subsequently took offline permanently have never forgotten.

Those genealogists have probably since tested at Ancestry, but they may be more inclined to test the rest of their family at places like Family Tree DNA and MyHeritage who have chromosome browsers and tools that support more serious researchers.

I think a contributing factor is that fewer “serious genealogists” are coming up in the ranks. The perception that all you need to do is enter a couple of generations and click on a few leaves, and you’re “done” misleads people as to the complexity and work involved in genealogical research. Not to mention how many of those hints are inaccurate and require analysis.

Having said that, I view each one of these people who are encouraged for the first time by an ad, even if it is misleading in its simplicity, as a potential candidate. We were all baby genealogists once, and some of us stayed for reasons known only to us. Maybe we have the genealogy gene😊

But yes, I would agree that the majority, by far, of serious genealogists have already tested someplace. What they have not done universally is transferred from 23andMe and Ancestry to the other companies that can help them, such as MyHeritage, FamilyTreeDNA and GEDmatch. If they had, the customer numbers at those companies would be higher. We all need to fish in every pond.

Advertising and Ethnicity

The DNA ads over the last few years have focused almost exclusively on ethnicity – the least reliable aspect of genetic genealogy – but also the “easiest” to understand if a customer takes their ethnicity percentages at face value. And of course, every consumer that purchases a test as a result of one of these ads does exactly that – spits or swabs, mails and opens their results to see what they “are” – full of excited anticipation.

Many people have absolutely no idea there’s more, like cousin matching – and many probably wouldn’t care.

The buying public who purchases due to these ads are clearly not early adopters, and most likely are not genealogists. One can hope that at least a few of them get hooked as a result, or at least enter a minimal tree.

Unfortunately, of the two companies experiencing layoffs, only Ancestry supports trees. Genealogy revolves around trees, pure and simple.

23andMe has literally had years to do so and has refused to natively support trees. Their FamilySearch link is not the same as supporting trees and tree matching. Their attempt at creating a genetic tree is laudable and has potential, but it’s not something that can be translated into a genealogical benefit for most people. I’m guessing that there aren’t any genealogists working for 23andMe, or they aren’t “heard” amid the vervre surrounding medical research.

All told, I’m not surprised that the two companies who are experiencing the layoffs are the two companies whose ads we saw most often focused on ethnicity, especially Ancestry. Who can forget the infamous kilt/leiderhosen ad that Ancestry ran? I still cringe.

Many people who test for ethnicity never sign on again – especially if they are unhappy with the results.

Ancestry and 23andMe spent a lot on ad campaigns, ramped up for the resulting sales, but now the ads are less effective, so not being run as much or at all. Sales are down. Who’s to say which came first, the chicken (fewer ads) or the egg (lower sales.)

This leads us to the next topic, add on sales.

No Repeat Sales

DNA testing, unless you have something else to offer customers is being positioned as a “one and done” sale, meaning that it’s a single purchase with no potential for additional revenue. While that’s offered as a reason for the downturn, it’s not exactly true for DNA test sales.

Ancestry clearly encourages customers to subscribe to their records database by withholding access to some DNA features without a subscription. For Ancestry, DNA is the bait for a yearly repeat sale of a subscription. Genealogists subscribe, of course, but people who aren’t genealogists don’t see the benefit.

Ancestry does not allow transfers into their database, which would provide for additional revenue opportunity. I suspect the reason is twofold. First, they want the direct testing revenue, but perhaps more importantly, in order to sell their customer’s DNA who have agreed to participate in research, or partner with research firms, those customers need to have tested on Ancestry’s custom chip. This holds true for 23andMe as well.

Through the 23andMe financial information in the earlier section, it’s clear that while the consumer only pays a one time fee to test, multiple research companies will pay over and over for access to that compiled consumer information.

Ancestry and 23andMe have the product, your opted-in DNA test that you paid for, and they can sell it over and over again. Hopefully, this revenue stream helps to fund development of genetic genealogical tools.

MyHeritage also provides access to advanced DNA tools by selling a subscription to their records database after a free trial. MyHeritage has integrated their DNA testing with genealogical records to provide their advanced Theories of Family Relativity tool, a huge boon to genealogists.

While Family Tree DNA doesn’t have a genealogical records database like Ancestry and MyHeritage, they provide Y DNA and mitochondrial DNA testing, in addition to the autosomal Family Finder test. If more people tested Y DNA and mitochondrial DNA, more genealogical walls would fall due to the unique inheritance path and the fact that neither Y nor mitochondrial DNA is admixed with DNA from the other parent.

Generally, only genealogists know about and are going to order Y DNA and mtDNA tests, or sponsor others to take them to learn more about their ancestral lines. These tests don’t provide yearly revenue like an ongoing subscription, but at least the fact that Family Tree DNA offers three different tests does provide the potential for at least some additional sales.

Both MyHeritage and FamilyTreeDNA encourage uploads, and neither sell, lease or share your DNA for medical testing. You can find upload instructions, here.

In summary of this section, all of the DNA testing companies do have some sort of additional (potential) revenue stream from DNA testing, so it’s not exactly “one and done.”

Health Testing Products

As for health testing, 23andMe has always offered some level of health information for their customers. Health and research has always been their primary focus. Health and genealogy was originally bundled into one test. Today, DNA ancestry tests with the health option at 23andMe cost more than a genealogy-only test and are two separate products.

MyHeritage also offers a genealogy only DNA test and a genealogy plus health DNA test.

In 2019, both Ancestry and MyHeritage added health testing to their menu as upgrades for existing customers.

In November 2019, FamilyTreeDNA announced an alliance with Tovana for their customers to order a full exome grade medical test and accompanying report. I recently received mine and am still reviewing the results – they are extensive.

It’s clear that all four companies see at least some level of consumer interest in health and traits as a lucrative next step.

Medical Research and DNA Sales

Both Ancestry and 23andMe are pursuing and have invested in relationships with research institutions or Big Pharma. I have concerns with how this is handled. You may not.

I’m supportive of medical research, but I’m concerned that most people have no idea of the magnitude and scope of the contracts between Ancestry and 23andMe with Big Pharma and others, in part, because the details are not public. Customers may also not be aware of exactly what they are opting in to, what it means or where their DNA/DNA results are going.

As a consumer, I want to know where my DNA is, who is using it, and for what purpose. I don’t want my DNA to wind up being used for a nefarious purpose or something I don’t approve of. Think Uighurs in China by way of example. BGI Genetics, headquartered in China but with an Americas division and facilities in Silicon Valley has been a major research institute for years. I want to know what my DNA is being used for, and by whom. The fact that the companies won’t provide their customers with that information makes me makes me immediately wonder why not.

I would like to be able to opt-in for specific studies, not blindly for every use that is profitable to the company involved, all without my knowledge. No blank checks. For example, I opted out of 23andMe research when they patented the technology for designer babies.

Furthermore, I feel that if someone is going to profit from my DNA, it should be me since I paid for the sequencing. At minimum, a person whose DNA is used in these studies should receive some guarantee that they will be provided with any drug in which their DNA is used for development, in particular if their insurance doesn’t pay and they cannot afford the drug.

Drug prices have risen exponentially in the US recently, with many people no longer able to afford their medications. For example, the price of insulin has tripled over the last decade, causing people to ration or cut back on their insulin, if not go without altogether. It would be the greatest of ironies if the very people whose DNA was sold and used to create a drug had no access to it.

Of course, Ancestry and 23andMe are not required to inform consumers of which studies their DNA or DNA results are used for, so we don’t know. Always read all of the terms and conditions, and all links when authorizing anything.

Both companies indicate that your DNA results are anonymized before being shared, but we now know that’s not really possible anymore, because it’s relatively easy to re-identify someone. This is exactly how adoptees identify their biological parents through genetic matches. Dr. Yaniv Erlich reported in the journal Science November 2018 that more than 60% of Europeans could be reidentified through a genealogy database of only 1.28 million individuals.

I think greater transparency and a change in policy favoring the consumer would go a long way to instilling more confidence in the outside research relationships that both Ancestry and 23andMe pursue and maintain. It would probably increase their participation level as well if people could select the research initiatives to which they want to contribute their DNA.

Privacy Concerns

The news has been full of articles about genetic privacy, especially in the months since the Golden State Killer case was solved. That was only April 2018, but it seems like eons ago.

Unfortunately, much of what has been widely reported is inaccurate. For example, no company has ever thrown the data base open for the FBI or anyone to rummage through like a closet full of clothes. However, headlines and commentary like that attract outrage and hundreds of thousands of clicks. In the news and media industry, “it’s all about eyeballs.”

In one case, an article I interviewed for extensively in an educational capacity was written accurately, but the headline was awful. The journalist in question replied that the editors write the headlines, not the reporters.

One instance of this type of issue would be pretty insignificant, but the news in this vein hasn’t abated, always simmering just below the surface waiting for something to fan the flames. Outrage sells.

For the most part, those within the genealogy community at least attempt to sort out what is accurate reporting and what is not, but those people are the ones who have already tested.

People outside the genealogy community just know that they’ve now seen repeated headlines reporting that their genetic privacy either has been, could be or might be breached, and they are suspicious and leery. I would be too. They have no idea what that actually means, what is actually occurring, where, or that they are probably far more at risk on social media sites.

These people are not genealogists, and now they look at ads and think to themselves, “yes, I’d like to do that, but…”

And they never go any further.

People are frightened and simply disconnect from the topic – without testing.

If, as a consumer, you see several articles or posts saying that <fill in car model> is really bad, when you consider a purchase, even if you initially like that model, you’ll remember all of those negative messages. You may never realize that the source was the competition which would cause you to interpret those negative comments in a completely different light.

I think that some of the well-intentioned statements made by companies to reassure their existing and potential customers have actually done more harm than good by reinforcing that there’s a widespread issue. “You’re safe with us” can easily be interpreted as, “there’s something to be afraid of.”

Added to that is the sensitive topic of adoptee and unknown parent searches.

Reunion stories are wonderfully touching, and we all love them, but you seldom see the other side of the coin. Not every story has a happy ending, and many don’t. Not every parent wants to be found for a variety of reasons. If you’re the child and don’t want to find your parents, don’t test, but it doesn’t work the other way around. A parent can often be identified by their relatives’ DNA matches to their child.

While most news coverage reflects positive adoptee reunion outcomes, that’s not universal, and almost every family has a few lurking skeletons. People know that. Some people are fearful of what they might discover about themselves or family members and are correspondingly resistant to DNA testing. Realizing you might discover that your father isn’t your biological father if you DNA test gives people pause. It’s a devastating discovery and some folks decide they’d rather not take that chance, even though they believe it’s not possible.

The genealogical search techniques for identifying unknown parents or close relatives and the technique used by law enforcement to identify unknown people, either bodies or perpetrators is exactly the same. If you are in one of the databases, who you match can provide a very big hint to someone hunting for the identify of an unknown person.

People who are not genealogists, adoptees or parents seeking to find children placed for adoption may be becoming less comfortable with this idea in general.

Of course, the ability for law enforcement to upload kits to GedMatch/Verogen and Family Tree DNA, under specific controlled conditions, has itself been an explosive and divisive topic within and outside of the genealogy community since April 2018.

These law enforcement kits are either cold case remains of victims, known as “Does,” or body fluids from the scenes of violent crimes, such as rape, murder and potentially child abduction and aggravated assault. To date, since the Golden State Killer identification, numerous cases have produced a “solve.” ISOGG, a volunteer organization, maintains a page of known cases solved, here.

GEDmatch encourages people to opt-in for law-enforcement matching, meaning that their kit can be seen as a match to kits uploaded by law enforcement agencies or companies working on behalf of law enforcement agencies. If a customer doesn’t opt-in, their kit can’t be seen as a match to a law enforcement kit.

Family Tree DNA initially opted-out all EU kits from law enforcement matching, due to GDPR, and provides the option for their customers to opt-out of law-enforcement matching.

Neither MyHeritage, Ancestry nor 23andMe cooperate with law enforcment under any circumstances and have stated that they will actively resist all subpoenaes in court.

ISOGG provides a FAQ on Investigative Genetic Genealogy, here.

The two sides of the argument have rather publicly waged war on each other in an ongoing battle to convince people of the merits of their side of the equation, including working with news organizations.

Unfortunately, this topic is akin to arguing over politics. No one changes their mind, and everyone winds up mad.

Notice I’m not linking any articles here, not even my own. I do not want to fan these flames, but I would be remiss if I didn’t mention that the topic of law enforcement usage itself, the on-going public genetic genealogy community war and resulting media coverage together have very probably contributed to the lagging sales. I’d also be remiss if I didn’t mention that while a great division of opinion exists, and many people are opposed, there are also many people who are extremely supportive.

All of this, combined, intentionally or not, has introduced FUD, fear, uncertainty and doubt – a very old disinformation “sales technique.”

In a sense, for consumers, this has been like watching pigs mud-wrestle.

As my dad used to say, “Never mud-wrestle with a pig. The pig enjoys it, you get muddy and the spectators can’t tell the difference.” The spectators in this case vote with their lack of spending and no one is a winner.

DNA Testing Was A FAD

Another theory is that genealogy DNA testing was just a FAD whose time has come and gone. I think the FAD was ethnicity testing, and that chicken has come home to roost.

Both 23andMe and Ancestry clearly geared up for testers attracted by their very successful ads. I was just recently on a cruise, and multiple times I heard people at another table discussing their ethnicity results from some unnamed company. They introduced the topic by saying, “I did my DNA.”

The discussion was almost always the same. Someone said that they thought their ethnicity was pretty accurate, someone else said theirs was awful, and the discussion went from there. Not one time did anyone ever mention a company name, DNA matching or any other functionality. I’m not even sure they understood there are different DNA testing companies.

If I was a novice listening-in, based on that discussion, I would have learned to doubt the accuracy of “doing my DNA.”

If most of the people who purchased ethnicity tests understood in advance that ethnicity testing truly is “just an estimate,” they probably wouldn’t have purchased in the first place. If they understood the limitations and had properly set expectations, perhaps they would not have been as unhappy and disenchanted with their results. I realize that’s not very good marketing, but I think that chicken coming home to roost is a very big part of what we’re seeing now.

The media has played this up too, with stories about how the ethnicity of identical twins doesn’t match. If people bother to read more than the headline, and IF it’s a reasonably accurate article, they’ll come to understand why and how that might occur. If not, what they’ll take away is that DNA testing is wrong and unreliable. So don’t bother.

Furthermore, most people don’t understand that ethnicity testing and cousin matching are two entirely different aspects of a DNA test. The “accuracy” of ethnicity is not related to the accuracy of cousin matching, but once someone questions the credibility of DNA testing – their lack of confidence is universal.

I would agree, the FAD is over – meaning lots of people testing primarily for ethnicity. I think the marketing challenge going forward is to show people that DNA testing can be useful for other things – and to make that easy.

Ethnicity was the low hanging fruit and it’s been picked.

Slowed Growth – Not Dead in the Water

The rate of growth has slowed. This does not by any stretch of the imagination mean that genetic genealogy or DNA testing is dead in the water. DNA fishes for us 365x24x7.

For example, just today, I received a message from 23andMe that 75 new relatives have joined 23andMe. I also received match notifications from Family Tree DNA and MyHeritage.  Hey – calorie-free treats!!!

These new matches are nothing to sneeze at. I remember when I was thrilled over ONE new match.

I have well over 100,000 matches if you combine my matches at the four vendors.

Without advanced tools like triangulation, Phased Family Matching, Theories of Family Relativity, ThruLines, DNAPainter, DNAgedcom and Genetic Affairs, I’d have absolutely no prayer of grouping and processing this number of matches for genealogy.

Even if I received no new matches for the next year, I’d still not be finished analyzing the autosomal matches I already have.

This Too Shall Pass

At least I hope it will.

I think people will still test, but the market has corrected. This level of testing is probably the “new normal.”

Neither Ancestry or 23andMe are spending the big ad dollars – or at least not as big.

In order for DNA testing companies to entice customers into purchasing subscriptions or add-on products, tools need to be developed or enhanced that encourage customers to return to the site over and over. This could come in the form of additional results or functionality calculated on their behalf.

That “on their behalf” point is important. Vendors need to focus on making DNA fun, and productive, not work. New tools, especially in the last year or two, have taken a big step in that direction. Make the customer wonder every day what gift is waiting for him or her that wasn’t there yesterday. Make DNA useful and fun!

I would call this “DNA crack.” 😊

Cooking Up DNA Crack!

In order to assist the vendors, I’ve compiled one general suggestion plus what I would consider to be the “Big 3 Wish List” for each of their DNA products in term of features or improvements that would encourage customers to either use or return to their sites. (You’re welcome.)

I don’t want this to appear negative, so I’ve also included the things I like most about each vendor.

If you have something to add, please feel free to comment in a positive fashion.

Family Tree DNA

I Love: Y and Mitochondrial DNA, Phased Family Matching, and DNA projects

General Suggestion – Fix chronic site loading issues which discourage customers

  • Tree Matching – fix the current issues with trees and implement tree matching for DNA matches
  • Triangulation – including by match group and segment
  • Clustering – some form of genetic networks

MyHeritage

I Love: Theories of Family Relativity, triangulation, wide variety of filters, SmartMatches and Record Matches

General – Clarify confusing subscription options in comparative grid format

  • Triangulation by group and segment
  • View DNA matches by ancestor
  • Improved Ethnicity

Ancestry

I Love: Database size, ThruLines, record and DNA hints (green leaves)

General – Focus on the customers’ needs and repeated requests

  • Accept uploads
  • Chromosome Browser (yes, I know this is a dead horse, but that doesn’t change the need)
  • Triangulation (dead horse’s brother)

23andMe

I Love: Triangulation, Ethnicity quality, ethnicity segments identified, painted and available for download

General – Focus on genealogy tools if you’re going to sell a genealogy test

  • Implement individual customer trees – not Family Search
  • Remove 2000 match limit (which is functionally less after 23andMe hides the people not opted into matching)
  • DNA + Tree Matching

Summary

In summary, we, as consumers need to maintain our composure, assuring others that no one’s hair is on fire and the sky really is not falling. We need to calmly educate as opposed to frighten.

Just the facts.

Other approaches don’t serve us in the end. Frightening people away may “win” the argumentative battle of the day, but we all lose the war if people are no longer willing to test.

This is much like a lifeboat – we all succeed together, or we all lose.

Everybody row!

As genealogists, we need to:

  • Focus on verifying ancestors and solving genealogy challenges
  • Sharing those victories with others, including family members
  • Encourage our relatives to test, and transfer so that their testing investment provides as much benefit as possible
  • Offer to help relatives with the various options on each vendor’s platform
  • Share the joy

People share exciting good news with others, especially on Facebook and social media platforms, and feel personally invested when you share new results with them. Collaboration bonds people.

A positive attitude, balanced perspective and excitement about common ancestors goes a very, very long was in terms of encouraging others.

We have more matches now than ever before, along with more and better tools. Matches are still rolling in, every single day.

New announcements are expected at Rootstech in a couple short weeks.

There’s so much opportunity and work to do.

The sky is not falling. It rained a bit.

The seas may have been stormy, but as a genealogist, the sun is out and a rising tide lifts us all.

Rising tide

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

DNAPainter: Painting “Bucketed” Family Tree DNA Maternal and Paternal Family Finder Matches in One Fell Swoop

DNAPainter has done it again, providing genealogists with a wonderful tool that facilitates separating your matches into maternal and paternal categories so that they can be painted on the proper chromosome – in one fell swoop no less.

Of course, the entire purpose of painting your chromosomes is to identify segments that descend from specific ancestors in order to push those lines back further in time genealogically. Identifying segments, confirming and breaking down brick walls is the name of the game.

DNA Painter New Import Tool

The new DNAPainter tool relies on Family Tree DNA’s Phased Family Matching which assigns your matches to maternal and paternal buckets. On your match list, at the top, you’ll see the following which indicates how many matches you have in total and how many people are assigned to each bucket.

DNAPainter FF import.png

Note that these are individual matches, not total matching segments – that number would be higher.

In order for Family Tree DNA to create bucketed matches for you, you’ll need to:

  • Either create a tree or upload a GEDCOM file
  • Attach your DNA kit to “you” in your tree
  • Attach all 4th cousins and closer with whom you match to their proper location on your tree

Yes, it appears that Family Tree DNA is now using 4th cousins, not just third cousins and closer, which provides for additional bucketed matches.

How reliable is bucketing?

Quite. Occasionally one of two issues arise which becomes evident if you actually compare the matches’ segments to the parent with whom they are bucketed:

  • One or more of your matches’ segments do match you and your parent, but additionally, one or more segments match you, but not your parent
  • The X chromosome is particularly susceptible to this issue, especially with lower cM matches
  • Occasionally, a match that is large enough to be bucketed isn’t, likely because no known, linked cousin shares that segment

Getting Started

Get started by creating or uploading your tree at Family Tree DNA.

DNAPainter mytree.png

After uploading your GEDCOM file or creating your tree at Family Tree DNA, click on the “matches” icon at the top of the tree to link yourself and your relatives to their proper places on your tree. Your matches will show in the box below the helix icon.

DNAPainter FF matches.png

I created an example “twin” for myself to use for teaching purposes by uploading a file from Ancestry, so I’m going to attach that person to my tree as my “Evil Twin.” (Under normal circumstances, I do not recommend uploading duplicate files of anyone.)

DNAPainter FF matches link.png

Just drag and drop the person on your match list on top of their place on the tree.

DNAPainter Ff sister.png

Here I am as my sister, Example Adoptee.

I’ve wished for a very, very long time that there was a way to obtain a list of segment matches sorted by maternal and paternal bucket without having to perform spreadsheet gymnastics, and now there is, at DNAPainter.

DNAPainter does the heavy-lifting so you don’t have to.

What Does DNAPainter Do with Bucketed Matches?

When you are finished uploading two files at DNAPainter, you’ll have:

  • Maternal groups of triangulated matches
  • Paternal groups of triangulated matches
  • Matches that could not be assigned based on the bucketing. Some (but not all) of these matches will be identical by chance – typically roughly 15-20% of your match list. You can read about identical by chance, here.

I’ll walk you through the painting process step by step.

First, you need to be sure your relatives are connected to your tree at Family Tree DNA so that you have matches assigned to your maternal and paternal buckets. The more relatives you connect, per the instructions in the previous section, the more matching people will be able to be placed into maternal or paternal buckets.

Painting Bucketed Matches at DNAPainter

I wrote basic articles about how to use DNAPainter here. If you’re unfamiliar with how to use DNAPainter or it’s new to you, now would be a good time to read those articles. This next section assumes that you’re using DNAPainter. If not, go ahead, register, and set up a profile. One profile is free for everyone, but multiple profiles require a subscription.

First, make a duplicate of the profile that you’re working with. This DNAPainter upload tool is in beta.

DNAPainter duplicate profile.png

Since I’m teaching and experimenting, I am using a fresh, new profile for this experiment. If it works successfully, I’ll duplicate my working profile, just in case something goes wrong or doesn’t generate the results I expect, and repeat these steps there.

Second, at Family Tree DNA, Download a fresh copy of your complete matching segment file. This “Download Segments” link is found at the top right of the chromosome browser page.

DNAPainter ff download segments.png

Third, download your matches at the bottom left of the actual matches page. This file hold information about your matches, such as which ones are bucketed, but no segment information. That’s in the other file.

DNAPainter csv.png

Name both of these files something you can easily identify and that tells them apart. I called the first one “Segments” in front of the file name and the second one “Matches” in front of the file name.

Fourth, at DNAPainter, you’ll need to import your entire downloaded segment file that you just downloaded from Family Tree DNA. I exclude segments under 7cM because they are about 50% identical by chance.

DNAPainter import instructions

click to enlarge

Select the segment file you just named and click on import.

DNAPainter both.png

At this point, your chromosomes at DNAPainter will look like this, assuming you’re using a new profile with nothing else painted.

Let’s expand chromosome 1 and see what it looks like.

DNAPainter chr 1 both.png

Note that all segments are painted over both chromosomes, meaning both the maternal and paternal copies of chromosome 1, partially shown above, because at this point, DNAPainter can’t tell which people match on the maternal and which people match on the paternal sides. The second “matches” file from Family Tree DNA has not yet been imported into DNAPainter, which tells DNAPainter which matches are on the maternal and which are on the paternal chromosomes.

If you’re not workign with a new profile, then you’ll also see the segments you’ve already painted. DNAPainter attempts to NOT paint segments that appear to have previously been painted.

Fifth, at DNAPainter, click on the “Import mat/pat info from ftDNA” link on the left which will provide you with a page to import the matches file information. This is the file that has maternal and paternal sides specified for bucketed matches. DNAPainter needs both the segment file, which you already imported, and the matches file.

DNAPainter import bucket

click to enlarge

After the second import, the “matches” file, my matches are magically redistributed onto their appropriate chromosomes based on the maternal and paternal bucketing information.

I love this tool!

At this point, you will have three groups of matches, assuming you have people assigned to your maternal and paternal buckets.

  • A “Shared” group for people who are related to both of your parents, or who aren’t designated as a bucketed match to either parent
  • Maternal group (pink chromosome)
  • Paternal group (blue chromosome)

It’s Soup!!!

I’m so excited. Now my matches are divided into maternal and paternal chromosome groups.

DNAPainter import complete.png

Just so you know, I changed the colors of my legend at DNAPainter using “edit group,” because all three groups were shades of pink after the import and I wanted to be able to see the difference clearly.

DNAPainter legend.png

Your Painted Chromosomes

Let’s take a look at what we have.

DNAPainter both, mat, pat.png

There’s still pink showing, meaning undetermined, which gets painted over both the maternal and paternal chromosomes, but there’s also a lot of magenta (maternal) and blue (paternal) showing now too as a result of bucketing.

Let’s look at chromosome 1.

DNAPainter chr 1 all.png

This detail, which is actually a summary, shows that the bucketed maternal (magenta) and paternal (blue) matches have actually covered most of the chromosome. There are still a few areas without coverage, but not many.

For a genealogist, this is beautiful!!!

How many matches were painted?

DNAPainter paternal total.png

DNAPainter maternal total.png

Expanding chromosome 1, and scrolling to the maternal portion, I can now see that I have several painted maternal segments, and almost the entire chromosome is covered.

Here’s the exciting part!

DNAPainter ch1 1 mat expanded.png

I stared the relatives I know, on the painting, above and on the pedigree chart, below. The green group descends through Hiram Ferverda and Eva Miller, the yellow group through Antoine Lore and Rachel Hill. The blue group is Acadian, upstream of Antoine Lore.

DNAPainter maternal pedigree.png

Those ancestors are shown by star color on my pedigree chart.

I can now focus on the genealogies of the other unstarred people to see if their genealogy can push those segments back further in time to older ancestors.

On my Dad’s side, the first part of chromosome 1 is equally as exciting.

DNAPainter chr 1 pat expanded.png

The yellow star only pushed this triangulated group back only to my grandparents, but the green star is from a cousin descended from my great-grandparents. The red star matches are even more exciting, because my common ancestor with Lawson is my brick wall – Marcus Younger and his wife, Susanna, surname unknown, parents of Mary Younger.

DNAPainter paternal pedigree.png

I need to really focus hard on this cluster of 12 people because THEIR common ancestors in their trees may well provide the key I need to push back another generation – through the brick wall. That is, after all, the goal of genetic genealogy.

Woohoooo!

Manual Spreadsheet Compare

Because I decided to torture myself one mid-winter day, and night, I wanted to see how much difference there is between the bucketed matches that I just painted and actual matches that I’ve identified by downloading my parents’ segment match files and mine and comparing them manually against each other. I removed any matches in my file that were not matches to my parent, in addition to me, then painted the rest.

I’ll import the resulting manual spreadsheet into the same experimental DNAPainter profile so we can view matches that were NOT painted previously. DNAPainter does not paint matches previously painted, if it can tell the difference. Since both of these files are from downloads, without the name of the matches being in any way modified, DNAPainter should be able to recognize everyone and only paint new segment matches.

Please note here that the PERSON unquestionably belongs bucketed to the parental side in question, but not all SEGMENTS necessarily match you and your parent. Some will not, and those are the segments that I removed from my spreadsheet.

DNAPainter manual spreadsheet example.png

Here’s a made-up example where I’ve combined my matches and my mother’s matches in one spreadsheet in order to facilitate this comparison. I colored my Mom’s matches green so they are easy to see when comparing to my own, then sorting by the match name.

Person 1 matches me and Mom both, at 10 cM on chromosome 1. Person 1 is assigned to my maternal side due to the matches above 9 cM, the lowest threshold at Family Tree DNA for bucketing.

In this example, we can see that Person 1 matches me and Mom (colored green), both, on the segment on chromosome 1. That match, bracketed by red, is a valid, phased, match and should be painted.

However, Person 1 also matches me, but NOT Mom on chromosome 2. Because Person 1 is bucketed to mother, this segment on chromosome 2 will also be painted to my maternal chromosome 2 using the DNAPainter import. The only way to sort this out is to do the comparison manually.

The same holds true for the X match shown. The two segments shown in red should NOT be painted, but they will be unless you are willing to compare you and your parents’ matches manually, you will just have to evaluate segments individually when you see that you’re working in a cluster where matches have been assigned through the mass import tool.

If you choose to compare the spreadsheets manually to assure that you’re not painting segments like the red ones above, DNAPainter provides instructions for you to create your own mass upload template, which is what I did after removing any segment matches of people that were not “in common” between me and mother on the same chromosomal segment, like the red ones, above.

Please note that if you delete the erroneous segments and later reimport your bucketed matches, they will appear again. I’m more inclined to leave them, making a note.

I did not do a manual comparison of my father’s side of the tree after discovering just how little difference was found on my mother’s side, and how much effort was involved in the manual comparison.

Creating a Mass Upload Template and File

DNAPainter custom mass upload.png

The instructions for creating your own mass upload file are provided by DNAPainter – please follow them exactly.

In my case, after doing the manual spreadsheet compare with my mother, only a total of 18 new segments were imported that were not previously identified by bucketing.

Three of those segments were over 15cM, but the rest were smaller. I expected there would be more. Family Tree DNA is clearly doing a great job with maternal and paternal bucketing assignments, but they can’t do it without known relatives that have also tested and are linked to your tree. The very small discrepancy is likely due to matches with cousins that I have not been able to link on my tree.

The great news is that because DNAPainter recognizes already-painted segments, I can repeat this anytime and just paint the new segments, without worrying about duplicates.

  • The information above pertains to segments that should have been painted, but weren’t.
  • The information below pertains to segments that were painted, but should not have been.

I did not keep track of how many segments I deleted that would have erroneously been painted. There were certainly more than 18, but not an overwhelming number. Enough though to let me know to be careful and confirm the segment match individually before using any of the mass uploaded matches for hypothesis or conclusions.

Given that this experiment went well, I created a copy of my “real” profile in order to do the same import and see what discoveries are waiting!

Before and After

Before I did the imports into my “real” file (after making a copy, of course,) I had painted 82% of my DNA using 1700 segments. Of course, each one of those segments in my original profile is identified with an ancestor, even if they aren’t very far back in time.

Although I didn’t paint matches in common with my mother before this mass import, each of my matches in common with my mother are in common with one or the other of my maternal grandparents – and by using other known matches I can likely push the identity of those segments further back in time.

Status Percent Segments Painted
Before mass Phased Family Match bucketed import 82 1700
After mass Phased Family Match bucketed import 88 7123
After additional manual matches with my mother added 88 7141

While I did receive 18 additional matching segments by utilizing the manually intensive spreadsheet matching and removal process, I did not receive enough more matches to justify the hours and hours of work. I won’t be doing that anymore with Family Tree DNA files since they have so graciously provided bucketing and DNAPainter can leverage that functionality.

Those hours will be much better spent focusing on unraveling the ancestors whose stories are told in clusters of triangulated matches.

I Love The Import Tool, But It’s Not Perfect

Keep in mind that the X chromosome needs a match of approximately twice the size of a regular chromosome to be as reliable. In other words, a 14 cM threshold for the X chromosome is roughly equivalent to a 7 cM match for any other chromosome. Said another way, a 7 cM match on the X is about equal to a 3.5 cM match on any other chromosome.

X matches are not created equal.

The SNP density on the X chromosome is about half that of the other chromosomes, making it virtually impossible to use the same matching criteria. I don’t encourage using matches of less than 500 SNPs unless you know you’re in a triangulated group and WITH at least a few larger, proven matches on that segment of the X chromosome.

Having said that, X matches, due to their unique inheritance path can persist for many generations and be extremely useful. You can read about working with the X chromosome here and here.

I noticed when I was comparing segments in the manual spreadsheet that I had to remove many X matches with people who had identical matches on other chromosomes with me and my mother. In other words, just because they matched my mother and me exactly on one chromosome, that phasing did not, by default, extend to matching on other segments.

I checked my manually curated file and discovered that I had a total of seven X matches that should have been, and were, painted because they matched me and Mom both.

DNAPainter X spreadsheet example.png

However, there were many that didn’t match me and Mom both, matching only me, that were painted because that person was bucketed (assigned) to my maternal side because a different segment phased to mother correctly.

On the X chromosome, here’s what happened.

DNAPainter maternal X.png

You can see that a lot more than 7 bright red matches were painted – 26 more to be exact. That’s because if an individual is bucketed on your maternal or paternal side, it’s presumed that all of the matching segments come from the same ancestor and are legitimate, meaning identical by descent and not by chance. They aren’t. Every single segment has an inheritance path and story of its own – and just because one segment triangulates does NOT mean that other segments that match that person will triangulate as well.

The X chromosome is the worst case scenario of course, because these 7 cM segments are actually as reliable as roughly 3.5 cM segments on any other chromosome, which is to say that more than 50% of them will be incorrect. However, some will be accurate and those will match me and mother both. 21% of the X matches to people who phased and triangulated on other chromosomes were accurate – 79% were not. Thankfully, we have phasing, bucketing and tools like this to be able to tell the difference so we can utilize the 21% that are accurate. No one wants to throw the baby out with the bath water, nor do we want to chase after phantoms.

Keep in mind that Phased Family Matching, like any other tool, is just that, a tool and needs some level of critical analysis.

Every Segment Has Its Own Story

We know that every single DNA segment has an independent inheritance path and story of its own. (Yes, I’ve said that several time now because it’s critically important so that you don’t wind up barking up the wrong tree, literally, pardon the pun.)

In the graphic above of my painted X chromosome matches, only the six matches with green stars are on the hand-curated match list. One had already been painted previously. The balance of the bright red matches were a part of the mass import and need to be deleted. Additionally, one of the accurate matches did not upload for some reason, so I’ll add that one manually.

I suggest that you go ahead and paint your bucketed segments, but understand that you may have a red herring or two in your crop of painted segment matches.

As you begin to work with these clusters of matches, check your matching segments with your parents (or other family members who were used in bucketing) and make sure that all the segments that have been painted by bulk upload actually match on all of the same segments.

If you have a parent that tested, there is no need to see if you and your match match other relatives on that same side. If your match does not match you and your parent on some significant overlapping portion of that same segment, the match is invalid. DNA does not “skip generations.”

If you don’t have a parent that has tested, your known relatives are your salvation, and the key to bucketed matches.

The great news is that you can easily see that a bulk match was painted from the coloring of the batch import. As you discover the relevant genealogy and confirm that all segments actually match your parent (or another family member, if you don’t have parents to test,) move the matching person to the appropriately colored ancestral group.

I further recommend that you hand curate the X chromosome using a spreadsheet. The nature of the X makes depending on phased matching too risky, especially with a tool like DNAPainter that can’t differentiate between a legitimate and non-legitimate match. The X chromosome matches are extraordinarily valuable because they can be useful in ways that other chromosomes can’t be due to the X’s unique inheritance path.

What About You?

If you don’t have your DNA at Family Tree DNA and you have tested elsewhere, you can transfer your DNA file for free, allowing you to see your matches and use many of the Family Tree DNA tools. However, to access the chromosome browser, which you’ll need for DNA painting, you’ll need to purchase the unlock for $19, but that’s still a lot less than retesting.

Here are transfer instructions for transferring your DNA file from 23andMe, Ancestry or MyHeritage.

If you have not purchased a Family Finder test at Family Tree DNA and don’t have a DNA file to transfer, you can order a test here.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Y DNA: Part 2 – The Dictionary of DNA

After my introductory article, Y DNA: Part 1 – Overview, I received several questions about terminology, so this second article will be a dictionary or maybe more like a wiki. Many terms about Y DNA apply to mitochondrial and autosomal as well.

Haplogroup – think of your Y or mitochondrial DNA haplogroup as your genetic clan. Haplogroups are assigned based on SNPs, specific nucleotide mutations that change very occasionally. We don’t know exactly how often, but the general schools of thought are that a new SNP mutation on the Y chromosome occurs someplace between every 80 and 145 years. Of course, those would only be averages. I’ve as many as two mutations in a father son pair, and no mutations for many generations.

Dictionary haplogroup.png

Y DNA haplogroups are quite reliably predicted by STR results at Family Tree DNA, meaning the results of a 12, 25, 37, 67 or 111 marker tests. Haplogroups are only confirmed or expanded from the estimate by SNP testing of the Y chromosome. Predictions are almost always accurate, but only apply to the upper level base haplogroups. I wrote about that in the article, Haplogroups and the Three Brothers.

Haplogroups are also estimated by some companies, specifically 23andMe and LivingDNA who provide autosomal testing. These companies estimate Y and mitochondrial haplogroups by targeting certain haplogroup defining locations in your DNA, both Y and mitochondrial. That doesn’t mean they are actually obtaining Y and mtDNA information from autosomal DNA, just that the chip they are using for DNA processing targets a few Y and mitochondrial locations to be read.

Again, the only way to confirm or expand that haplogroup is to test either your Y or mitochondrial DNA directly. I wrote about that in the article Haplogroup Comparisons Between Family Tree DNA and 23andMe and Why Different Haplogroup Results?.

Nucleotide – DNA is comprised of 4 base nucleotides, abbreviated as T (Thymine), A (Adenine), C (Cytosine) and G (Guanine.) Every DNA address holds one nucleotide.

In the DNA double helix, generally, A pairs with T and C pairs with G.

Dictionary helix structure.png

Looking at this double helix twist, green and purple “ladder rungs” represent the 4 nucleotides. Purple and green and have been assigned to one bonding pair, either A/T or C/G, and red and blue have been assigned to the other pair.

When mutations occur, most often A or T are replaced with their paired nucleotide, as are C and G. In this example, A would be replaced with T and vice versa. C with G and vice versa.

Sometimes that’s not the case and a mutation occurs that pairs A with C or G, for example.

For Y DNA SNPs, we care THAT the mutation occurred, and the identity of the replacing nucleotide so we know if two men match on that SNP. These mutations are what make DNA in general, and Y DNA in particular useful for genealogy.

The rest of this nucleotide information is not something you really need to know, unless of course you’re playing in the jeopardy championship. (Yes, seriously.) The testing lab worries about these things, as well as matching/not matching, so you don’t need to.

SNP – Single nucleotide polymorphism, pronounced “snip.” A mutation that occurs when the nucleotide typically found at a particular location (the ancestral value) is replaced with one of the other three nucleotides (the derived value.) SNPs that mutate are called variants.

In Y DNA, after discovery and confirmation that the SNP mutation is valid and carried by more than one man, the mutation is given a name something like R-M269 where R is the base haplogroup and M269 reflects the lab that discovered and named the SNP (M = Peter Underhill at Stanford) and an additional number, generally the next incremental number named by that lab (269).

Some SNPs were discovered simultaneously by different labs. When that happens, the same mutation in the identical location is given different names by different organizations, resulting in multiple names for the name mutation in the same DNA location. These are considered equivalent SNPs because they are identical.

In some cases, SNPs in different locations seem to define the same tree branching structure. These are functionally equivalent until enough tests are taken to determine a new branching structure, but they are not equivalent in the sense that the exact same DNA location was named by two different labs.

Some confusion exists about Y DNA SNP equivalence.

Equivalence Confusion How This Happens Are They the Same?
Same exact DNA location named by two labs Different SNP names for the same DNA location, named by two different labs at about the same time Exactly equivalent because SNPs are named for the the exact same DNA locations, define only one tree branch ever
Different DNA locations and SNP names, one current tree branch Different SNPs temporarily located on same branch of  the tree because branches or branching structure have not yet been defined When enough men test, different branches will likely be sorted out for the non-equivalent SNPs pointing to newly defined branch locations that divide the tree or branch

Let’s look at an example where 4 example SNPs have been named. Two at the same location, and two more for two additional locations. However, initially, we don’t know how this tree actually looks, meaning what is the base/trunk and what are branches, so we need more tests to identify the actual structure.

Dictionary SNPs before branching.png

The example structure of a haplogroup R branch, above, shows that there are three actual SNP locations that have been named. Location 1 has been given two different SNP names, but they are the same exact location. Duplicate names are not intentionally given, but result from multiple labs making simultaneous discoveries.

However, because we don’t have enough information yet, meaning not enough men have tested that carry at least some of the mutations (variants,), we can’t yet define trunks and branches. Until we do, all 4 SNPs will be grouped together. Examples 1 and 2 will always be equivalent because they are simply different names for the exact same DNA location. Eventually, a branching structure will emerge for Examples 1/2, Example 3 and Example 4..

Dictionary SNP branches.png

Eventually, the downstream branches will be defined and split off. It’s also possible that Example 4 would be the trunk with Examples 1 and 2 forming a branch and Example 3 forming a branch. Branching tree structure can’t be built without sufficient testers who take the NGS tests, specifically the Big Y-700 which doesn’t just confirm a subset of existing named SNPs, but confirms all named SNPs, unnamed variants and discovers new previously-undiscovered variants which define the branching tree structure.

SNP testing occurs in multiple ways, including:

  • NGS, next generation sequencing, tests such as the Big Y-700 which scans the gold standard region of the Y chromosome in order to find known SNPs at specific locations, mutations (variants) not yet named as SNPs, previously undiscovered variants and minimally 700 STR mutations.
  • WGS, whole genome sequencing although there currently exist no bundled commercial tools to separate Y DNA information from the rest of the genome, nor any comparison methodology that allows whole genome information to be transferred to Family Tree DNA, the only commercial lab that does both testing and matching of NGS Y DNA tests and where most of the Y DNA tests reside. There can also be quality issues with whole genome sequencing if the genome is not scanned a similar number of times as the NGS Y tests. The criteria for what constitues a “positive call” for a mutation at a specific location varies as well, with little standardization within the industry.
  • Targeted SNP testing of a specific SNP location. Available at Family Tree DNA  and other labs for some SNP locations, this test would only be done if you are looking for something very specific and know what you are doing. In some cases, a tester will purchase one SNP to verify that they are in a particular lineage, but there is no benefit such as matching. Furthermore, matching on one SNP alone does not confirm a specific lineage. Not all SNPs are individually available for purchase. In fact, as more SNPs are discovered at an astronomical rate, most aren’t available to purchase separately.
  • SNP panels which test a series of SNPs within a certain haplogroup in order to determine if a tester belongs to a specific subclade. These tests only test known SNPs and aren’t tests of discovery, scanning the useable portion of the Y chromosome. In other words, you will discern whether you are or are not a member of the specific subclades being tested for, but you will not learn anything more such as matching to a different subclade, or new, undiscovered variants (mutations) or subclades.

Subclade – A branch of a specific upstream branch of the haplotree.

Dictionary R.png

For example, in haplogroup R, R1 and R2 are subclades of haplogroup R. The graphic above conveys the concept of a subclade. Haplogroups beneath R1 and R2, respectively, are also subclades of haplogroup R as well as subclades of all clades above them on the haplotree.

Older naming conventions used letter number conventions such as R1 and R2 which expanded to R1b1c and so forth, alternating letters and numbers.

Today, we see most haplogroups designated by the haplogroup letter and SNP name. Using that notation methodology, R would be R-M207, R1 would be R-M173 and R2 would be R-M479.

Dictionary R branches.png

ISOGG documents Y haplogroup naming conventions and their history, maintaining both an alphanumeric and SNP tree for backwards compatibility. The reason that the alphanumeric tree was obsoleted was because there was no way to split a haplogroup like R1b1c when a new branch appeared between R1b and R1b1 without renaming everything downstream of R1b, causing constant reshuffling and renaming of tree branches. Haplogroup names were becoming in excess of 20 characters long. Today, the terminal SNP is used as a person’s haplogroup designation. The SNP name never changes and the individual’s Y haplogroup only changes if:

  • Further testing is performed and the tester is discovered to have an additional mutation further downstream from their current terminal SNP
  • A SNP previously discovered using the Big Y NGS test has since been named because enough men were subsequently discovered to carry that mutation, and the newly named SNP is the tester’s terminal SNP

Terminal SNP – It’s really not fatal. Used in this context, “terminal” means end of line, meaning furthest down and closest to present in the haplotree.

Depending on what level of testing you’ve undergone, you may have different haplogroups, or SNPs, assigned as your official “end of line” haplogroup or “terminal SNP” at various times.

If you took any of the various STR panel tests (12, 25, 37, 67 or 111) at Family Tree DNA your SNP was predicted based on STR matches to other men. Let’s say that prediction is R-M198. At that time, R-M198 was your terminal SNP. If you took the Big Y-700 test, your terminal SNP would almost assuredly change to something much further downstream in the haplotree.

If you took an autosomal test, your haplogroup was predicted based on a panel of SNPs selected to be informative about Y or mitochondrial DNA haplogroups. As with predicted haplogroups from STR test panels, the only way to discover a more definitive haplogroup is with further testing.

If you took a Y DNA STR test, you can see by looking at your match list that other testers may have a variety of “terminal SNPs.”

Dictionary Y matches.png

In the above example, the tester was originally predicted as R-M198 but subsequently took a Big Y test. His haplogroup now is R-YP729, a subclade of R-M198 several branches downstream.

Looking at his Y DNA STR matches to view the haplogroups of his matches, we see that the Y DNA predicted or confirmed haplogroup is displayed in the Y-DNA Haplogroup column – and several other men are M198 as well.

Anyone who has taken any type of confirming SNP test, whether it’s an individual SNP test, a panel test or the Big Y has their confirmed haplogroup at that level of testing listed in the Terminal SNP column. What we don’t know and can’t tell is whether the men whose Terminal SNP is listed as R-M198 just tested that SNP or have undergone additional SNP testing downstream and tested negative for other downstream SNPs. We can tell if they have taken the Big Y test by looking at their tests taken, shown by the red arrows above.

If the haplogroup has been confirmed by any form of SNP testing, then the confirmed haplogroup is displayed under the column, “Terminal SNP.” Unfortunately, none of this testers’ matches at this STR marker level have taken the Big Y test. As expected, no one matches him on his Terminal SNP, meaning his SNP farthest down on the tree. To obtain that level of resolution, one would have to take the Big Y test and his matches have not.

Dictionary Y block tree.png

Looking at this tester’s Big Y Block Tree results, we can see that there are indeed 3 people that match him on his terminal SNP, but none of them match him on the STR tests which generally produce genealogical matches closer in time. This suggests that these haplogroup level matches are a result of an ancestor further back in time. Note that these men also have an average of 5 variants each that are currently unnamed. These may eventually be named and become baby branches.

SNP matches can be useful genealogically, depending on when they occurred, or can originate further back in time, perhaps before the advent of surnames.

Our tester’s paternal ancestors migrated from Germany to Hungary in the late 1700s or 1800s, settling in a region now in Croatia, but he’s brick-walled on his paternal line due to record loss during the various wars.

The block tree reveals that the tester’s Big Y SNP match is indeed from Germany, born in 1718, with other men carrying this same terminal SNP originating in both Hungary and Germany even though they aren’t shown as a STR marker match to our tester.

You can read more about the block tree in the article, Family Tree DNA’s New Big Y Block Tree.

Haplotype – your individual values for results of gene sequencing, such as SNPs or STR values tested in the 12, 25, 37, 67 and 111 marker panels at Family Tree DNA. The haplotype for the individual shown below would be 13 for location DYS393, 26 for location DYS390, 16 for location DYS19, and so forth.

Dictionary panel 1.png

The values in a haplotype tend to be inherited together, so they are “unique” to you and your family. In this case, the Y DNA STR values of 13, 26, 16 and 10 are generally inherited together (unless a new mutation occurs,) passed from father to son on the Y chromosome. Therefore, this person’s haplotype is 13, 26, 16 and 10 for these 4 markers.

If this haplotype is rare, it may be very unique to the family. If the haplotype is common, it may only be unique to a much larger haplogroup reaching back hundreds or thousands of years. The larger the haplotype, the more unique it tends to be.

STR – Short tandem repeat. I think of a short tandem repeat as a copy machine or a stutter error. On the Y chromosome, the value of 13 at the location DYS393 above indicates that a series of DNA nucleotides is repeated a total of 13 times.

Indel example 1

Starting with the above example, let’s see how STR values accrue mutations.

STR example

In the example above, the value of CT was repeated 4 times in this DNA sequence, for a total of 5, so 5 would be the marker value.

Indel example 3

DNA can have deletions where the DNA at one or more locations is deleted and no DNA is found at that location, like the missing A above.

DNA can also have insertions where a particular value is inserted one or more times.

Dictionary insertion example.png

For example, if we know to expect the above values at DNA locations 1-10, and an insertion occurs between location 3 and 4, we know that insertion occurred because the alignment of the pattern of values expected in locations 4-10 is off by 1, and an unexpected T is found between 3 and 4, which I’ve labeled 3.1.

Dictionary insertion example 1.png

STR, or copy mutations are different from insertions, deletions or SNP mutations, shown below, where one SNP value is actually changed to another nucleotide.

Indel example 2

Haplotree – the SNP trees of humanity. Just a few years ago, we thought that there were only a few branches on the Y and mitochondrial trees of humanity, but the Big Y test has been a game changer for Y DNA.

At the end of 2019, the tree originating in Africa with Y chromosome Adam whose descendants populated the earth is comprised of more than 217,277 variants divided into 24,838 individual Y haplotree branches

A tree this size is very difficult to visualize, but you can take a look at Family Tree DNA’s public Y DNA tree here, beginning with haplogroup A. Today, there 25,880 branches, increased by more than 1000 branches in less than 3 weeks since year end. This tree is growing at breakneck speed as more men take the Big Y-700 test and new SNPs are discovered.

On the Public Y Tree below, as you expand each haplogroup into subgroups, you’ll see the flags representing the locations of where the testers’ most distant paternal ancestor lived.

Dictionary public tree.png

I wrote about how to use the Y tree in the article Family Tree DNA’s PUBLIC Y DNA Haplotree.

The mitochondrial tree can be viewed here. I wrote about to use the mitochondrial tree in the article Family Tree DNA’s Mitochondrial Haplotree.

Need Something Else?

I’ll be introducing more concepts and terms in future articles on the various Y DNA features. In the mean time, be sure to use the search box located in the upper right-hand corner of the blog to search for any term.

DNAexplain search box.png

For example, want to know what Genetic Distance means for either Y or mitochondrial DNA? Just type “genetic distance” into the search box, minus the quote marks, and press enter.

Enjoy and stay tuned for Part 3 in the Y DNA series, coming soon.

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2019: The Year and Decade of Change

2019 ends both a year and a decade. In the genealogy and genetic genealogy world, the overwhelmingly appropriate word to define both is “change.”

Everything has changed.

Millions more records are online now than ever before, both through the Big 3, being FamilySearch, MyHeritage and Ancestry, but also through multitudes of other sites preserving our history. Everyplace from National Archives to individual blogs celebrating history and ancestors.

All you need to do is google to find more than ever before.

I don’t know about you, but I’ve made more progress in the past decade that in all of the previous ones combined.

Just Beginning?

If you’re just beginning with genetic genealogy, welcome! I wrote this article just for you to see what to expect when your DNA results are returned.

If you’ve been working with genetic genealogy results for some time, or would like a great review of the landscape, let’s take this opportunity to take a look at how far we’ve come in the past year and decade.

It’s been quite a ride!

What Has Changed?

EVERYTHING

Literally.

A decade ago, we had Y and mitochondrial DNA, but just the beginning of the autosomal revolution in the genetic genealogy space.

In 2010, Family Tree DNA had been in business for a decade and offered both Y and mitochondrial DNA testing.

Ancestry offered a similar Y and mtDNA product, but not entirely the same markers, nor full sequence mitochondrial. Ancestry subsequently discontinued that testing and destroyed the matching database. Ancestry bought the Sorenson database that included Y, mitochondrial and autosomal, then destroyed that data base too.

23andMe was founded in 2006 and began autosomal testing in 2007 for health and genealogy. Genealogists piled on that bandwagon.

Family Tree DNA added autosomal to their menu in 2010, but Ancestry didn’t offer an autosomal product until 2012 and MyHeritage not until 2016. Both Ancestry and MyHeritage have launched massive marketing and ad campaigns to help people figure out “who they are,” and who their ancestors were too.

Family Tree DNA

2019 FTDNA

Family Tree DNA had a banner year with the Big Y-700 product, adding over 211,000 Y DNA SNPs in 2019 alone to total more than 438,000 by year end, many of which became newly defined haplogroups. You can read more here. Additionally, Family Tree DNA introduced the Block Tree and public Y and public mitochondrial DNA trees.

Anyone who ignores Y DNA testing does so at their own peril. Information produced by Y DNA testing (and for that matter, mitochondrial too) cannot be obtained any other way. I wrote about utilizing mitochondrial DNA here and a series about how to utilize Y DNA begins in a few days.

Family Tree DNA remains the premier commercial testing company to offer high resolution and full sequence testing and matching, which of course is the key to finding genealogy solutions.

In the autosomal space, Family Tree DNA is the only testing company to provide Phased Family Matching which uses your matches on both sides of your tree, assuming you link 3rd cousins or closer, to assign other testers to specific parental sides of your tree.

Family Tree DNA accepts free uploads from other testing companies with the unlock for advanced features only $19. You can read about that here and here.

MyHeritage

MyHeritage, the DNA testing dark horse, has come from behind from their late entry into the field in 2016 with focused Europeans ads and the purchase of Promethease in 2019. Their database stands at 3.7 million, not as many as either Ancestry or 23andMe, but for many people, including me – MyHeritage is much more useful, especially for my European lines. Not only is MyHeritage a genealogy company, piloted by Gilad Japhet, a passionate genealogist, but they have introduced easy-to-use advanced tools for consumers during 2019 to take the functionality lead in autosomal DNA.

2019 MyHeritage.png

You can read more about MyHeritage and their 2019 accomplishments, here.

As far as I’m concerned, the MyHeritage bases-loaded 4-product “Home Run” makes MyHeritage the best solution for genetic genealogy via either testing or transfer:

  • Triangulation – shows testers where 3 or more people match each other. You can read more, here.
  • Tree Matching – SmartMatching for both DNA testers and those who have not DNA tested
  • Theories of Family Relativity – a wonderful new tool introduced in February. You can read more here.
  • AutoClusters – Integrated cluster technology helps you to visualize which groups of people match each other.

One of their best features, Theories of Family Relativity connects the dots between people you DNA match with disparate trees and other documents, such as census. This helps you and others break down long-standing brick walls. You can read more, here.

MyHeritage encourages uploads from other testing companies with basic functions such as matching for free. Advanced features cost either a one-time unlock fee of $29 or are included with a full subscription which you can try for free, here. You can read about what is free and what isn’t, here.

You can develop a testing and upload strategy along with finding instructions for how to upload here and here.

23andMe

Today, 23andMe is best known for health, having recovered after having had their wings clipped a few years back by the FDA. They were the first to offer Health results, leveraging the genealogy marketspace to attract testers, but have recently been eclipsed by both Family Tree DNA with their high end full Exome Tovana test and MyHeritage with their Health upgrade which provides more information than 23andMe along with free genetic counseling if appropriate. Both the Family Tree DNA and MyHeritage tests are medically supervised, so can deliver more results.

23andMe has never fully embraced genetic genealogy by adding the ability to upload and compare trees. In 2019, they introduced a beta function to attempt to create a genetic tree on your behalf based on how your matches match you and each other.

2019 23andMe.png

These trees aren’t accurate today, nor are they deep, but they are a beginning – especially considering that they are not based on existing trees. You can read more here.

The best 23andMe feature for genealogy, as far as I’m concerned, is their ethnicity along with the fact that they actually provide testers with the locations of their ethnicity segments which can help testers immensely, especially with minority ancestry matching. You can read about how to do this for yourself, here.

23andMe generally does not allow uploads, probably because they need people to test on their custom-designed medical chip. Very rarely, once that I know of in 2018, they do allow uploads – but in the past, uploaders do not receive all of the genealogy features and benefits of testing.

You can however, download your DNA file from 23andMe and upload elsewhere, with instructions here.

Ancestry

Ancestry is widely known for their ethnicity ads which are extremely effective in recruiting new testers. That’s the great news. The results are frustrating to seasoned genealogists who get to deal with the fallout of confused people trying to figure out why their results don’t match their expectations and family stories. That’s the not-so-great news.

However, with more than 15 million testers, many of whom DO have genealogy trees, a serious genealogist can’t *NOT* test at Ancestry. Testers do need to be aware that not all features are available to DNA testers who don’t also subscribe to Ancestry’s genealogy subscriptions. For example, you can’t see your matches’ trees beyond a 5 generation preview without a subscription. You can read more about what you do and don’t receive, here.

Ancestry is the only one of the major companies that doesn’t provide a chromosome browser, despite pleas for years to do so, but they do provide ThruLines that show you other testers who match your DNA and show a common ancestor with you in their trees.

2019 Ancestry.png

ThruLines will also link partial trees – showing you ancestral descendants from the perspective of the ancestor in question, shown above. You can read about ThruLines, here.

Of course, without a chromosome browser, this match is only as good as the associated trees, and there is no way to prove the genealogical connection. It’s possible to all be wrong together, or to be related to some people through a completely different ancestor. Third party tools like Genetic Affairs and cluster technology help resolve these types of issues. You can read more, here.

You can’t upload DNA files from other testing companies to Ancestry, probably due to their custom medical chip. You can download your file from Ancestry and upload to other locations, with instructions here.

Selling Customers’ DNA

Neither Family Tree DNA, MyHeritage nor Gedmatch sell, lease or otherwise share their customers’ DNA, and all three state (minimally) they will not in the future without prior authorization.

All companies utilize their customers’ DNA internally to enhance and improve their products. That’s perfectly normal.

Both Ancestry and 23andMe sell consumers DNA to both known and unknown partners if customers opt-in to additional research. That’s the purpose of all those questions.

If you do agree or opt-in, and for those who tested prior to when the opt-in began, consumers don’t know who their DNA has been sold to, where it is or for what purposes it’s being utilized. Although anonymized (pseudonymized) before sale, autosomal results can easily be identified to the originating tester (if someone were inclined to do so) as demonstrated by adoptees identifying parents and law enforcement identifying both long deceased remains and criminal perpetrators of violent crimes. You can read more about re-identification here, although keep in mind that the re-identification frequency (%) would be much higher now than it was in 2018.

People are widely split on this issue. Whatever you decide, to opt-in or not, just be sure to do your homework first.

Always read the terms and conditions fully and carefully of anything having to do with genetics.

Genealogy

The bottom line to genetic genealogy is the genealogy aspect. Genealogists want to confirm ancestors and discover more about those ancestors. Some information can only be discovered via DNA testing today, distant Native heritage, for example, breaking through brick walls.

This technology, as it has advanced and more people have tested, has been a godsend for genealogists. The same techniques have allowed other people to locate unknown parents, grandparents and close relatives.

Adoptees

Not only are genealogists identifying people long in the past that are their ancestors, but adoptees and those seeking unknown parents are making discoveries much closer to home. MyHeritage has twice provided thousands of free DNA tests via their DNAQuest program to adoptees seeking their biological family with some amazing results.

The difference between genealogy, which looks back in time several generations, and parent or grand-parent searches is that unknown-parent searches use matches to come forward in time to identify parents, not backwards in time to identify distant ancestors in common.

Adoptee matching is about identifying descendants in common. According to Erlich et al in an October 2018 paper, here, about 60% of people with European ancestry could be identified. With the database growth since that time, that percentage has risen, I’m sure.

You can read more about the adoption search technique and how it is used, here.

Adoptee searches have spawned their own subculture of sorts, with researchers and search angels that specialize in making these connections. Do be aware that while many reunions are joyful, not all discoveries are positively received and the revelations can be traumatic for all parties involved.

There’s ying and yang involved, of course, and the exact same techniques used for identifying biological parents are also used to identify cold-case deceased victims of crime as well as violent criminals, meaning rapists and murderers.

Crimes Solved

The use of genetic genealogy and adoptee search techniques for identifying skeletal remains of crime victims, as well as identifying criminals in order that they can be arrested and removed from the population has resulted in a huge chasm and division in the genetic genealogy community.

These same issues have become popular topics in the press, often authored by people who have no experience in this field, don’t understand how these techniques are applied or function and/or are more interested in a sensational story than in the truth. The word click-bait springs to mind although certainly doesn’t apply equally to all.

Some testers are adamantly pro-usage of their DNA in order to identify victims and apprehend violent criminals. Other testers, not so much and some, on the other end of the spectrum are vehemently opposed. This is a highly personal topic with extremely strong emotions on both sides.

The first such case was the Golden State Killer, which has been followed in the past 18 months or so by another 100+ solved cases.

Regardless of whether or not people want their own DNA to be utilized to identify these criminals and victims, providing closure for families, I suspect the one thing we can all agree on is that we are grateful that these violent criminals no longer live among us and are no longer preying on innocent victims.

I wrote about the Golden State Killer, here, as well as other articles here, here, here and here.

In the genealogy community, various vendors have adopted quite different strategies relating to these kinds of searches, as follows:

  • Ancestry, 23andMe and MyHeritage – have committed to fight all access attempts by law enforcement, including court ordered subpoenas.
  • MyHeritage, Family Tree DNA and GedMatch allow uploads, so forensic kits, meaning kits from deceased remains or rape kits could be uploaded to search for matches, the same as any other kit. Law Enforcement uploads violate the MyHeritage terms of service. Both Family Tree DNA and GEDmatch have special law enforcement procedures in place. All three companies have measures in place to attempt to detect unauthorized forensic uploads.
  • Family Tree DNA has provided a specific Law Enforcement protocol and guidelines for forensic uploads, here. All EU customers were opted out earlier in 2019, but all new or existing non-EU customers need to opt out if they do not want their DNA results available for matching to law enforcement kits.
  • GEDmatch was recently sold to Verogen, a DNA forensics company, with information, here. Currently GEDMatch customers are opted-out of matching for law enforcement kits, but can opt-in. Verogen, upon purchase of GEDmatch, required all users to read the terms and conditions and either accept the terms or delete their kits. Users can also delete their kits or turn off/on law enforcement matching at any time.

New Concerns

Concerns in late 2019 have focused on the potential misuse of genetic matching to potentially target subsets of individuals by despotic regimes such as has been done by China to the Uighurs.

You can read about potential risks here, here and here, along with a recent DoD memo here.

Some issues spelled out in the papers can be resolved by vendors agreeing to cryptographically sign their files when customers download. Of course, this would require that everyone, meaning all vendors, play nice in the sandbox. So far, that hasn’t happened although I would expect that the vendors accepting uploads would welcome cryptographic signatures. That pretty much leaves Ancestry and 23andMe. I hope they will step up to the plate for the good of the industry as a whole.

Relative to the concerns voiced in the papers and by the DoD, I do not wish to understate any risks. There ARE certainly risks of family members being identified via DNA testing, which is, after all, the initial purpose even though the current (and future) uses were not foreseen initially.

In most cases, the cow has already left that barn. Even if someone new chooses not to test, the critical threshold is now past to prevent identification of individuals, at least within the US and/or European diaspora communities.

I do have concerns:

  • Websites where the owners are not known in the genealogical community could be collecting uploads for clandestine purposes. “Free” sites are extremely attractive to novices who tend to forget that if you’re not paying for the product, you ARE the product. Please be very cognizant and leery. Actually, just say no unless you’re positive.
  • Fearmongering and click-bait articles in general will prevent and are already causing knee-jerk reactions, causing potential testers to reject DNA testing outright, without doing any research or reading terms and conditions.
  • That Ancestry and 23andMe, the two major vendors who don’t accept uploads will refuse to add crypto-signatures to protect their customers who download files.

Every person needs to carefully make their own decisions about DNA testing and participating in sharing through third party sites.

Health

Not surprisingly, the DNA testing market space has cooled a bit this past year. This slowdown is likely due to a number of factors such as negative press and the fact that perhaps the genealogical market is becoming somewhat saturated. Although, I suspect that when vendors announce major new tools, their DNA kit sales spike accordingly.

Look at it this way, do you know any serious genealogists who haven’t DNA tested? Most are in all of the major databases, meaning Ancestry, 23andMe, FamilyTreeDNA, MyHeritage and GedMatch.

All of the testing companies mentioned above (except GEDmatch who is not a testing company) now have a Health offering, designed to offer existing and new customers additional value for their DNA testing dollar.

23andMe separated their genealogy and health offering years ago. Ancestry and MyHeritage now offer a Health upgrade. For existing customers, FamilyTreeDNA offers the Cadillac of health tests through Tovana.

I would guess it goes without saying here that if you really don’t want to know about potential health issues, don’t purchase these tests. The flip side is, of course, that most of the time, a genetic predisposition is nothing more and not a death sentence.

From my own perspective, I found the health tests to be informative, actionable and in some cases, they have been lifesaving for friends.

Whoever knew genealogy might save your life.

Innovative Third-Party Tools

Tools, and fads, come and go.

In the genetic genealogy space, over the years, tools have burst on the scene to disappear a few months later. However, the last few years have been won by third party tools developed by well-known and respected community members who have created tools to assist other genealogists.

As we close this decade, these are my picks of the tools that I use almost daily, have proven to be the most useful genealogically and that I feel I just “couldn’t live without.”

And yes, before you ask, some of these have a bit of a learning curve, but if you are serious about genealogy, these are all well worthwhile:

  • GedMatch – offers a wife variety of tools including triangulation, half versus fully identical segments and the ability to see who your matches also match. One of the tools I utilize regularly is segment search to see who else matches me on a specific segment, attached to an ancestor I’m researching. GedMatch, started by genealogists, has lasted more than a decade prior to the sale in December 2019.
  • Genetic Affairs – a barn-burning newcomer developed by Evert-Jan Blom in 2018 wins this years’ “Best” award from me, titled appropriately, the “SNiPPY.”.

Genetic Affairs 2019 SNiPPY Award.png

Genetic Affairs offers clustering, tree building between your matches even when YOU don’t have a tree. You can read more here.

2019 genetic affairs.png

Just today, Genetic Affairs released a new cluster interface with DNAPainter, example shown above.

  • DNAPainter – THE chromosome painter created by Jonny Perl just gets better and better, having added pedigree tree construction this year and other abilities. I wrote a composite instructional article, here.
  • DNAGedcom.com and Genetic.Families, affiliated with DNAAdoption.org – Rob Warthen in collaboration with others provides tools like clustering combined with triangulation. My favorite feature is the gathering of all direct ancestors of my matches’ trees at the various vendors where I’ve DNA tested which allows me to search for common surnames and locations, providing invaluable hints not otherwise available.

Promising Newcomer

  • MitoYDNA – a non-profit newcomer by folks affiliated with DNAAdoption and DNAGedcom is designed to replace YSearch and MitoSearch, both felled by the GDPR ax in 2018. This website allows people to upload their Y and mitochondrial DNA results and compare the values to each other, not just for matching, which you can do at Family Tree DNA, but also to see the values that do and don’t match and how they differ. I’ll be taking MitoYDNA for a test drive after the first of the year and will share the results with you.

The Future

What does the future hold? I almost hesitate to guess.

  • Artificial Intelligence Pedigree Chart – I think that in the not-too-distant future we’ll see the ability to provide testers with a “one and done” pedigree chart. In other words, you will test and receive at least some portion of your genealogy all tidily presented, red ribbon untied and scroll rolled out in front of you like you’re the guest on one of those genealogy TV shows.

Except it’s not a show and is a result of DNA testing, segment triangulation, trees and other tools which narrow your ancestors to only a few select possibilities.

Notice I said, “the ability to.” Just because we have the ability doesn’t mean a vendor will implement this functionality. In fact, just think about the massive businesses built upon the fact that we, as genealogists, have to SEARCH incessantly for these elusive answers. Would it be in the best interest of these companies to just GIVE you those answers when you test?

If not, then these types of answers will rest with third parties. However, there’s a hitch. Vendors generally don’t welcome third parties offering advanced tools and therefore block those tools, even though they are being used BY the customer or with their explicit authorization to massage their own data.

On the other hand, as a genealogist, I would welcome this feature with open arms – because as far as I’m concerned, the identification of that ancestor is just the first step. I get to know them by fleshing out their bones by utilizing those research records.

In fact, I’m willing to pony up to the table and I promise, oh-so-faithfully, to maintain my subscription lifelong if one of those vendors will just test me. Please, please, oh pretty-please put me to the test!

I guess you know what my New Year’s Wish is for this and upcoming years now too😊

What About You?

What do you think the high points of 2019 have been?

How about the decade?

What do you think the future holds?

Do you care to make any predictions?

Are you planning to focus on any particular goal or genealogy problem in 2020?

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Genetic Affairs Reconstructs Trees from Genetic Clusters – Even Without Your Tree or Common Ancestors

Since Genetic Affairs launched in 2018, they’ve added a LOT of new functionality. I initially wrote about their clustering functionality here.

Genetic Affairs AutoClustering, SuperClusters and brand-new AutoTree tree reconstruction are to-die-for features for traditional genealogists. For adoptees or people seeking unknown parentage, they are the best thing since sliced bread, automating tasks previously peformed manually over labor-filled hours, days and months.

Why Genetic Affairs?

Genetic Affairs works with matches from three vendors; Ancestry, FamilyTreeDNA’s Family Finder test and 23andMe.

MyHeritage has integrated a version of Genetic Affairs directly into their product offering on the MyHeritage website so every MyHeritage DNA customer receives clustering functionality, free, through MyHeritage, but not tree reconstruction.

GedMatch has also implemented an autocluster version for Tier 1 users, but GedMatch’s version only works at GedMatch, of course, and does not include the new tree reconstruction feature.

This article pertains to the functionality of the features available directly through Genetic Affairs, including:

  • Clustering your matches visually to identify ancestral lines of people that match you and each other
  • Reports by cluster including common surnames and locations
  • Analysis of trees within each cluster to identify common ancestors
  • Partially reconstructs trees with your known ancestors for each cluster
  • Partially reconstructs trees between your matches even if you don’t have a tree or don’t share the common ancestor

Genetic Affairs provides visualization for linked DNA matches along with critically important clues to help you figure out just how you are related to these people, and these clusters of interrelated people. The Genetic Affairs user manual can be found here.

Analysis

Each time you run Genetic Affairs is called an analysis. Each analysis scans your kit at the selected vendor(s) for all current matches. A few minutes later, you receive a zip file via e-mail with two or three files depending on your selections at Genetic Affairs and the tree availabilty of the vendor:

  • Autocluster file including the visual clusters plus additional information
  • Excel spreadsheet of cluster members and relevant information such as common ancestors and common locations
  • Tree file containing reconstructed trees (23andMe does not support trees, so no trees are available for 23andMe clusters)

Let’s look at each feature. Grab a cup of coffee and head for the computer.

Selecting Analysis Options

I encourage you to experiment. Selecting a wider range of cM (centimorgans) results in a larger file, but may also mean that the analysis times out.

For this report, I’m utilizing my matches at FamilyTreeDNA and selected a cM range of 50 minimum and 250 maximum. I wanted a minimum cluster size of 2 people, meaning 2 in addition to me. This resulted in 249 total matches that met that criteria and 20 people who met the cM criteria but did not have another person with whom to cluster.

I tried a second analysis using 20 cM – 300 cM resulting in a much larger file with 499 people in the cluster group. Currently, 499 is the maximum that will be processed.

Genetic Affairs profiles.png

On the Genetic Affairs Profiles page, I can view all of the profiles I manage. Users can schedule updates where Genetic Affairs automatically scans for matches and produces reports.

Genetic Affairs my profiles

Click to enlarge

By clicking on the Autoscan button, you can schedule automated recurring scans with e-mail notification.

Genetic Affairs autoscan

Click to enlarge

You can scan daily, weekly, monthly or never – whatever interval you select.

You can select both the minimum level of DNA match and the minimum cM. The lowest you can select is 9cM.

You can view any e-mails that have been sent to you by Genetic Affairs. The green envelope means that there’s something in your e-mail box. This answers the question about whether the report was completed and sent. If the report has been sent, but is not in your e-mail, check your spam filter.

Starting the Scan

Back on the Genetic Affairs profiles page, you can initiate an autocluster by clicking on the AutoCluster button where you’ll see the options based on which vendor you’ve selected.

Genetic Affairs autocluster.png

For example, at Ancestry, you can include only people in a particular group or only starred matches.

Genetic Affairs Ancestry autocluster

Click to enlarge

23andMe includes surname enrichment and triangulated groups options.

Genetic Affairs 23andme autocluster.png

FamilyTreeDNA and Ancestry both include the “AutoTree – identify common ancestors from trees” option. It’s very important that you click this box if you select the “Default AutoCluster” option – or you won’t get the reconstructed trees.

Genetic Affairs default autocluster.png

Of course, you can always run the analysis again.

Genetic Affairs autotree.png

If you click on the “AutoTree AutoCluster” function, the AutoTree box is already checked for you.

Genetic Affairs autotree autocluster.png

Rule Based AutoCluster

The “Rule based AutoCluster” is a dream-come-true for people seeking unknown parents or ancestors in a relatively recent timeframe.

Genetic Affairs Rule Based Autocluster.png

The “Rule based AutoCluster” provides you with options that allow you to do three things:

  • NOT – Exclude your matches with someone else. For example, your mother has tested. You can use the NOT rule to exclude anyone you might match through your mother’s side, providing you with clusters from your father’s side.
  • AND – Combine your results with someone else’s. If you have identified a half-sibling, you can view only clusters of only people who match you AND your half sibling.
  • OR – Combined rules. You can request a cluster of everyone in clusters with person A but not in a cluster with person B. In this case, if you match a number of half siblings, you can include all of their matches, except people who match them through their “other” parent, if that parent has tested.

Genetic Affairs has provided some graphics and examples here, but you may have to be a member of the site to access this page because the options are customized for you. So I’ll include the non-customized information, below. You can click these to open in a separate window and enlarge.

Genetic Affairs rule based 1.pngGenetic Affairs rule based 2.png

The “Rule based AutoCluster” explanations provided by Genetic Affairs.

Genetic Affairs rule based 3.png

Read the details of how these tools work. They are powerful, so don’t assume you understand without reading carefully.

Now let’s cluster!

Clustering Your Matches

Genetic Affairs autocluster order.png

At Genetic Affairs, if you initiate clustering by clicking on the AutoCluster button, you’ll need to put a checkmark in the AutoTree function box. If you began by clicking the AutoTree button, the box is automatically checked for you.

A few minutes later, you’ll receive an email with a zipped file. Save this file to someplace on your computer where you can find it, and open the zipped file by clicking.

Genetic Affairs zip file.png

You’ll see the files, above.

Click on the chrome AutoCluster HTML file which will display in your browser.

The first thing you will see is your visual autocluster. It’s so much fun to watch your matches “fly” into place!

Each of the people in this cluster are somehow related to the other people in the custer who have cells of the same color. The people with grey cells are included in two clusters – meaning the one to the right and the one above, both.

Genetic Affairs cluster.png

The names of the matches are listed to the left and above the display.

The legend is to the right.

Genetic Affairs cluster legend.png

I have a total of 41 clusters.

Scrolling down the page, each cluster has additional information, and each column is searchable or selectable, including comments I’ve entered at the vendor.

Genetic Affairs autocluster info

Click to enlarge

Just by looking at these first 3 matches, I know immediately which side of the family and which ancestors are involved with this cluster. I can look at my notes, to the right, which indicate whether I’ve identified our common ancestor. I paint identified matches at DNAPainter which I’ve entered into the notes field at the vendor.

If I’m signed in to my account at the vendor, I can click on my match’s tree link, above, and take a look. Keep in mind that these people can be related to you, and each other, through multiple ancestors.

Genetic Affairs autocluster members.png

You can hover over any person in the grid, above, to view additional information. For each person whose square is grey, indicating membership in (at least) two clusters, you can hover over the grey square and view the members of both clusters. In this case, I’m hovered over the grey square of Brooke and E.H and the black box shows me who is in both people’s clusters.

Note that while a match could be related to you through several ancestors, and hence be in more than 2 clusters, because of the grid nature of clustering, a match can only be displayed in a maximum of 2 different clusters.

Looking at the auto-generated table below, I see the common surnames in cluster 1. Keep in mind that many of these people maybe related to each other through a spouse that you aren’t. Your ancestor’s brother’s children, for example, are also related to each other through your ancestor’s brother’s wife.

Genetic Affairs surnames.png

I know that Vannoy is the common line, but Upton isn’t my ancestor – at least not that I know of. However, a surname with 20 people in a cluster needs to be investigated and evaluated. Do I have any missing wives in this line? Here’s a really great place to start digging.

In this case, it turns out that one of my ancestor’s children married an Upton, and several of his descendants have tested.

Let’s see what other tools we have.

The Ancestor Spreadsheet

Opening the spreadsheet file, I see several rows and columns.

Genetic Affairs common ancestor

Click to enlarge

The common ancestor between the people in the rows is listed at left. The green cells are from my tree.

Two example ancestors are shown above, Mary McDowell and William Harrell, who just happen to have been married to each other.

Scrolling on down, I see rows without green cells.

Genetic Affairs ancestors

Click to enlarge

These people share a common ancestor in their trees, an ancestor that isn’t in my tree. Presumably this is an ancestor I don’t share with them – or one I haven’t identified.

For example, “Bev” and “van” share William Grubb. “Vicki” and “Mark” share Martha Helen Smith. I don’t share either of these ancestors, but Martha Smith married Alvis Winster Bolton, the son of my ancestor – so I know why Martha Helen Smith appears as a common person in the trees of my matches, but not me.

Further down in the same cluster, I notice that one match shares multiple lines in our trees. Therefore, our DNA match could be on either line, or some segments from one line and some from the other.

Scrolling to the bottom of each cluster’s sheet, common locations are provided.

Genetic Affairs locations

Click to enlarge

While the designation of “Tennessee” isn’t terribly exciting, scrolling further down provides a list by county, and that IS exciting, especially if you’re chasing a brick wall. Sometimes a group of ancestors in a location where you’re seeking a female’s family is very suggestive especially when combined with ancestral names and surnames.

Let’s move on to the third group of files, Trees.

The Tree File

Click on the tree file and you’ll see the following.

Genetic Affairs tree file.png

Reconstructed Trees

For each cluster where trees can be reconstructed, you’ll see two files for cluster 1:

  • Ancestors 1
  • Tree 1

Opening the file labeled Ancestors 1, I see the following information for the first ancestor, meaning a common ancestor between the two people listed below that ancestor. You can click to enlarge these images.

Genetic Affairs ancestors by cluster.png

Opening the corresponding Tree 1 file, I see that Genetic Affairs has reconstructed the tree between me and the other testers as best it can based on the provided trees.

Genetic Affairs reconstructed trees.png

Looking at the tree for cluster 3, below, I see this line in cluster 1, above, has been extended because Sarah, the pink match and me all share a common ancestor, Elizabeth Shepherd.

Genetic Affairs reconstructed tree 2.png

Looking at another cluster, below, while I don’t share an ancestor in a tree, three people that I match at a relatively high level do.

Genetic Affairs reconstructed tree no common ancestor.png

As you can see, their common ancestor is Anne Adelaide Chiasson. This is my Acadian line, so our common ancestor or ancestors must be someplace on up that tree, or the result of an undocumented adoption, or a missing ancestor in our trees.

Constructing the trees of your matches to each other, even when you don’t have a common ancestor in your tree, is the best feature of all.

Clustering plus tree reconstruction, especially in combination with the other clues, is the key to breaking through those unyielding  brick walls.

Super AutoClusters

Just as I was getting ready to publish this article, Genetic Affairs released a new feature called Super AutoCluster.

I absolutely love this, because it combines your clusters from multiple vendors – today Ancestry, who does not provide segment information, along with Family Tree DNA, who  provides invaluable segment information.

This combination can be extremely powerful.

To begin a Super AutoCluster, click on that option under an AncestryDNA kit that also has a kit at Family Tree DNA. Both kits need to have a profile at Genetic Affairs.

Genetic Affairs supercluster.png

Next, you’ll see the screen confirming the kits to use. The combined autocluster tool is limited to a total of 500 matches, or 250 at each account. However, that’s more than enough to make some great progress.

Press “Perform Analysis.”

Drum roll please…

Voila, your combined cluster.

Genetic Affairs supercluster cluster

Click to enlarge

In this example, you can see the large peach and purple Ancestry clusters. The green red, brown and pink smaller clusters are Family Tree DNA clusters. The Family Tree DNA clusters have tiny little Fs in their cells. If you click the above graphic to enlarge, you can see the Fs.

However, the grey cells that intersect the two clusters, meaning an Ancestry and a Family Tree DNA cluster, are found in both of those clusters, connecting the clusters for you logically.

If you look closely at the cells labeled here with “common names,” you’ll see “N” in the cells indicating a common names for you to check out within that cluster.

The “Common Ancestors” box shows the people who connect to both clusters.

There are also a number of people that span the green and red Family Tree DNA clusters too.

Genetic Affairs then proceeds to combine the clustered DNA matches and trees for you from both vendors.

Genetic Affairs supercluster tree

Click to enlarge

In addition to the cluster graph and spreadsheet information that now includes combined information, you’ll see a much larger clustered tree.

And again, the best part is that even if you don’t know how you connect to people through trees, their tree and ancestors will be connected, even if you’re absent. You’ll be present in the genetic cluster itself, so you can work the combined tree cluster to see where you might fit in that branch of the family. Because trust me, you do fit – somehow, someplace.

Cost

Genetic Affairs uses a “credit” payment system. Your first 200 credits are free so you can learn. These may last you for weeks or months, depending on how often you run the clusters. If you manage multiple kits, you’ll use credits more quickly, but it’s worth every last dollar. Genetic Affairs is very inexpensive. I manage multiple accounts and I spend around $5 per month. You can read about Genetic Affairs’ payment plans and see sample calculations here.

My recommendation is simply to dive in and use your free credits. By the way, I’m gifting myself with a “credit purchase” for Christmas😊

Genetic Affairs is a wonderful genealogy gift idea for serious genealogists, adoptees or people seeking unknown parents or ancestors in recent generations.

Have You Tested or Transferred With All 4 Vendors?

If you haven’t yet tested at or transferred to each of the main 4 vendors, clustering, reconstructed trees and SuperClusters is yet another reason to do so. Additionally, every close relative’s DNA holds hints that yours doesn’t, so be sure to test them too.

You can purchase kits, below, or read about how to transfer your DNA to vendors who accept uploads – FamilyTreeDNA, MyHeritage and GedMatch, all for free, here.

Enjoy!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Big Y News and Stats + Sale

I must admit – this past January when FamilyTreeDNA announced the Big Y-700, an upgrade from the Big Y-500 product, I was skeptical. I wondered how much benefit testers would really see – but I was game to purchase a couple upgrades – and I did. Then, when the results came back, I purchased more!

I’m very pleased to announce that I’m no longer skeptical. I’m a believer.

The Big Y-700 has produced amazing results – and now FamilyTreeDNA has decoupled the price of the BAM file in addition to announcing substantial sale prices for their Thanksgiving Sale.

I’m going to discuss sale pricing for products other than the Big Y in a separate article because I’d like to focus on the progress that has been made on the phylogenetic tree (and in my own family history) as a result of the Big Y-700 this year.

Big Y Pricing Structure Change

FamilyTreeDNA recently anounced some product structure changes.

The Big Y-700 price has been permanently dropped by $100 by decoupling the BAM file download from the price of the test itself. This accomplishes multiple things:

  • The majority of testers don’t want or need the BAM file, so the price of the test has been dropped by $100 permanently in order to be able to price the Big Y-700 more attractively to encourage more testers. That’s good for all of us!!!
  • For people who ordered the Big Y-700 since November 1, 2019 (when the sale prices began) who do want the BAM file, they can purchase the BAM file separately through the “Add Ons and Upgrades” page, via the “Upgrades” tab for $100 after their test results are returned. There will also be a link on the Big Y-700 results page. The total net price for those testers is exactly the same, but it represents a $100 permanent price drop for everyone else.
  • This BAM file decoupling reduces the initial cost of the Big Y-700 test itself, and everyone still has the option of purchasing the BAM file later, which will make the Big Y-700 test more affordable. Additionally, it allows the tester who wants the BAM file to divide the purchase into two pieces, which will help as well.
  • The current sale price for the Big Y-700 for the tester who has taken NO PREVIOUS Y DNA testing is now just $399, formerly $649. That’s an amazing price drop, about 40%, in the 9 months since the Big Y-700 was introduced!
  • Upgrade pricing is available too, further down in this article.
  • If you order an upgrade from any earlier Big Y to the Big Y-700, you receive an upgraded BAM file because you already paid for the BAM file when you ordered your initial Big Y test.
  • The VCF file is still available for download at no additional cost with any Big Y test.
  • There is no change in the BAM file availability for current customers. Everyone who ordered before November 1, 2019 will be able to download their BAM file as always.

The above changes are permanent, except for the sale price.

2019 has been a Banner Year

I know how successful the Big Y-700 has been for kits and projects that I manage, but how successful has it been overall, in a scientific sense?

I asked FamilyTreeDNA for some stats about the number of SNPs discovered and the number of branches added to the Y phylotree.

Drum roll please…

Branches Added This Year Total Tree Branches Variants Added to Tree This Year Total Variants Added to Tree
2018 6,259 17,958 60,468 132.634
2019 4,394 22.352 32,193 164,827

The tests completed in 2019 are only representative for 10 months, through October, and not the entire year.

Haplotree Branches

Not every SNP discovered results in a new branch being added to the haplotree, but many do. This chart shows the number of actual branches added in 2018 and 2019 to date.

Big Y 700 haplotree branches.png

These stats, provided by FamilyTreeDNA, show the totals in the bottom row, which is a cumulative branch number total, not a monthly total. At the end of October 2019, the total number of individual branches were 22,352.

Big Y 700 haplotree branches small.png

This chart, above, shows some of the smaller haplogroups.

Big Y 700 haplotree branches large.png

This chart shows the larger haplogroups, including massive haplogroup R.

Haplotree Variants

The number of variants listed below is the number of SNPs that have been discovered, named and placed on the tree. You’ll notice that these numbers are a lot larger than the number of branches, above. That’s because roughly 168,000 of these are equivalent SNPs, meaning they don’t further branch the tree – at least not yet. These 168K variants are the candidates to be new branches as more people test and the tree can be further split.

Big Y 700 variants.png

These numbers also don’t include Private Variants, meaning SNPs that have not yet been named.

If you see Private Variants listed in your Big Y results, when enough people have tested positive for the same variant, and it makes sense, the variants will be given a SNP name and placed on the tree.

Big Y 700 variants small.png

The smaller haplogroups variants again, above, followed by the larger, below.

Big Y 700 variants large.png

Upgrades from the Big Y, or Big Y-500 to Big Y-700

Based on what I see in projects, roughly one third of the Big Y and Big Y-500 tests have upgraded to the Big Y-700.

For my Estes line, I wondered how much value the Big Y-700 upgrade would convey, if any, but I’m extremely glad I upgraded several kits. As a result of the Big Y-700, we’ve further divided the sons of Abraham, born in 1747. This granularity wasn’t accomplished by STR testing and wasn’t accomplished by the Big Y or Big Y-500 testing alone – although all of these together are building blocks. I’m ECSTATIC since it’s my own ancestral line that has the new lineage defining SNP.

Big Y 700 Estes.png

Every Estes man descended from Robert born in 1555 has R-BY482.

The sons of the immigrant, Abraham, through his father, Silvester, all have BY490, but the descendants of Silvester’s brother, Robert, do not.

Moses, son of Abraham has ZS3700, but the rest of Abraham’s sons don’t.

Then, someplace in the line of kit 831469, between Moses born in 1711 and the present-day tester, we find a new SNP, BY154784.

Big Y 700 Estes block tree.png

Looking at the block tree, we see the various SNPs that are entirely Estes, except for one gentleman who does not carry the Estes surname. I wrote about the Block Tree, here.

Without Big Y testing, none of these SNPs would have been found, meaning we could never have split these lines genealogically.

Every kit I’ve reviewed carries SNPs that the Big Y-700 has been able to discern that weren’t discovered previously.

Every. Single. One.

Now, even someone who hasn’t tested Y DNA before can get the whole enchilada – meaning 700+ STRs, testing for all previously discovered SNPs, and new branch defining SNPs, like my Estes men – for $399.

If a new Estes tester takes this test, without knowing anything about his genealogy, I can tell him a great deal about where to look for his lineage in the Estes tree.

Reduced Prices

FamilyTreeDNA has made purchasing the Big Y-700 outright, or upgrading, EXTREMELY attractive.

Test Price
Big Y-700 purchase with no previous Y DNA test

 

$399
Y-12 upgrade to Big Y-700 $359
Y-25 upgrade to Big Y-700 $349
Y-37 upgrade to Big Y-700 $319
Y-67 upgrade to Big Y-700 $259
Y-111 upgrade to Big Y-700 $229
Big Y or Big Y-500 upgrade to Big Y-700 $189

Note that the upgrades include all of the STR markers as yet untested. For example, the 12-marker to Big Y-700 includes all of the STRs between 25 and 111, in addition to the Big Y-700 itself. The Big Y-700 includes:

  • All of the already discovered SNPs, called Named Variants, extending your haplogroup all the way to the leaf at the end of your branch
  • Personal and previously undiscovered SNPs called Private Variants
  • All of the untested STR markers inclusive through 111 markers
  • A minimum of a total of 700 STR markers, including markers above 111 that are only available through Big Y-700 testing

With the refinements in the Big Y test over the past few years, and months, the Big Y is increasingly important to genealogy – equally or more so than traditional STR testing. In part, because SNPs are not prone to back mutations, and are therefore more stable than STR markers. Taken together, STRs and SNPs are extremely informative, helping to break down ancestral brick walls for people whose genealogy may not reach far back in time – and even those who do.

If you are a male and have not Y DNA tested, there’s never been a better opportunity. If you are a female, find a male on a brick wall line and sponsor a scholarship.

Click here to order or upgrade!

______________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Duplicate Copies of Parental Chromosomes – Uniparental Disomy

Recently, three articles were been published that discuss a phenomenon where unsuspecting individuals have two copies one parent’s chromosome, and no copy of the other parent’s chromosome. This is called Uniparental Disomy.

Since then, online I’ve seen this phenomenon being offered as a reason for all kinds of things – which just isn’t the case.

I’m sure in part it’s because people either haven’t actually read the articles, or they don’t understand what’s being said.

I’m going to explain this briefly and then tell you how you can find out if this situation actually DOES apply to you.

Uniparental Disomy in Brief

Here are a few summary bullet points about uniparental disomy:

  • Uniparental disomy is found on ONLY ONE CHROMOSOME in roughly 1 in 2000 people in the reference samples utilized at 23andMe.
  • This is not a new discovery, per se. It was known and previously believed to occur in 1 of 3,500 births, but that frequency has been updated to 1 in 2,000 in the paper.
  • Uniparental disomy was found in 1 of 50,000 people on TWO CHROMOSOMES.
  • This is NOT the reason you have more maternal or paternal matches, in general. Legitimate reasons for more matches on one parent’s line include the fact that one family or another historically has more or fewer descendants, more or fewer dead ends, recent immigrants, ancestors from regions where DNA testing is not popular and/or endogamous populations.
  • The people included in the research were trios where the tester and their parents have all 3 tested.
  • Many/most people with uniparental disomy have no known health issues.
  • The testers have in some cases been associated with some conditions, as described in the paper and supplemental information.
  • Of the people who carry this condition, more people carry a double maternal chromosome than a double paternal chromosome.
  • Uniparental disomy occurs more on chromosome 16 than any other chromosome, twice as often as the second highest, chromosome 7, with 40 and 20 occurrences each, respectively. Chromosome 18 had none. No, no one knows why.
  • It’s not necessary for the entire chromosome to be duplicated. In some cases, only part of the chromosome is improperly combined.

Articles

This Atlantic article provides an overview:

This academic paper in Cell is referenced in The Atlantic article and is where the meat of the information is found. Be sure to look at the supplemental files too.

Much of the data for the article was from 23andMe who discussed this study in their blog here.

What About You?

Do you have a chromosome that has experienced uniparental disomy? Probably not, but there’s a very easy way for you to find out.

If you have a duplicate chromosome, or portion of a chromosome from one parent, the genetic genealogy “indicator” that you’ll see is called ROH, or Run of Homozygosity. This condition occurs in situations where you have a duplicate chromosome, or where your parents are related to each other

  1. The first question to ask yourself is whether or not your parents are related to each other. If so, you will have some ROH segments.
  2. The second question is whether you have an entire duplicated chromosome when your parents aren’t related.

In order to answer both questions, we use the tool at GedMatch called “Are your parents related?”

Are Your Parents Related to Each Other?

You’ll need to establish an account at GedMatch and upload your DNA results from one of the testing vendors.

Here are instructions for how to download from the various vendors:

Using the “Are your parents related” Tool

To use this tool at GedMatch, after your uploaded kit is finished processing, click on “Are your parents related?” and enter the kit number of the person you want to evaluate. I’m assuming for this discussion that person is you.

Parents related.png

Normally, we use this tool to determine if someone’s parents are related to each other. We find this occurring in endogamous populations or where cousins married in the past few generations, as happened rather routinely in history.

In those situations, across all of a person’s chromosomes (not just one), we find relatively small segments of common DNA inherited by the person on both their maternal and paternal copies of each chromosome.

Parents are related.png

These matching areas are called ROH or “runs of homozygosity” meaning that the DNA is identical on both chromosomes for short segments, as shown above in the regions where the top bars are solid green and the bottom bar is solid blue.

The legend for reading the graphic is shown below.

Parents related legend.png

The chromosomes of a person whose parents are not related is shown below. Notice that there are no significant green bars on top, and no blue bars on the bottom.

Parents not related.png

Simple chance alone is responsible for tiny segments that are identical, like those tiny green slivers, but not larger segments over 7cM as shown in the first example and marked by blue on the bottom.

For someone that has a fully duplicated chromosome, meaning uniparental disomy, we see something different.

A Duplicate Chromosome

For someone that has a duplicate parental chromosome, all of their chromosomes look normal except that one entire chromosome, or a very large segment, is entirely identical.

Below is an example of a person whose chromosome 7 is duplicated. The rest of this person’s chromosomes looked like the image above with only tiny green slivers.

Parents uniparental disomy.png

If you have a duplicate chromosome, you’re rare, one in every 2,000 people in the populations studied.

If you have two identical chromosomes, you’re hen’s teeth rare – 1 in 50,000.

If you have uniparental disomy, you probably have no idea. You can also experience uniparental disomy when most of, but not all of a single chromosome is duplicated.

If you have duplicate parental chromosomes, you’ll match people on both sides of your family normally on all of your OTHER non-duplicate chromosomes. On your duplicate chromosome, you’ll only match people from the parent whose chromosome is duplicated.

In other words, this is NOT why you seem to be missing matches from one side of your family generally. You’ll need to look at other reasons to explain that.

If you have a duplicate chromosome, or large segment of a duplicate chromosome, leave a comment.

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Hit a Genetic Genealogy Home Run Using Your Double-Sided Two-Faced Chromosomes While Avoiding Imposters

Do you want to hit a home run with your DNA test, but find yourself a mite bewildered?

Yep, those matches can be somewhat confusing – especially if you don’t understand what’s going on. Do you have a nagging feeling that you might be missing something?

I’m going to explain chromosome matching, and its big sister, triangulation, step by step to remove any confusion, to help you sort through your matches and avoid imposters.

This article is one of the most challenging I’ve ever written – in part because it’s a concept that I’m so familiar with but can be, and is, misinterpreted so easily. I see mistakes and confusion daily, which means that resulting conclusions stand a good chance of being wrong.

I’ve tried to simplify these concepts by giving you easy-to-use memory tools.

There are three key phrases to remember, as memory-joggers when you work through your matches using a chromosome browser: double-sided, two faces and imposter. While these are “cute,” they are also quite useful.

When you’re having a confusing moment, think back to these memory-jogging key words and walk yourself through your matches using these steps.

These three concepts are the foundation of understanding your matches, accurately, as they pertain to your genealogy. Please feel free to share, link or forward this article to your friends and especially your family members (including distant cousins) who work with genetic genealogy. 

Now, it’s time to enjoy your double-sided, two-faced chromosomes and avoid those imposters:)

Are you ready? Grab a nice cup of coffee or tea and learn how to hit home runs!

Double-Sided – Yes, Really

Your chromosomes really are double sided, and two-faced too – and that’s a good thing!

However, it’s initially confusing because when we view our matches in a chromosome browser, it looks like we only have one “bar” or chromosome and our matches from both our maternal and paternal sides are both shown on our one single bar.

How can this be? We all have two copies of chromosome 1, one from each parent.

Chromosome 1 match.png

This is my chromosome 1, with my match showing in blue when compared to my chromosome, in gray, as the background.

However, I don’t know if this blue person matches me on my mother’s or father’s chromosome 1, both of which I inherited. It could be either. Or neither – meaning the dreaded imposter – especially that small blue piece at left.

What you’re seeing above is in essence both “sides” of my chromosome number 1, blended together, in one bar. That’s what I mean by double-sided.

There’s no way to tell which side or match is maternal and which is paternal without additional information – and misunderstanding leads to misinterpreting results.

Let’s straighten this out and talk about what matches do and don’t mean – and why they can be perplexing. Oh, and how to discover those imposters!

Your Three Matches

Let’s say you have three matches.

At Family Tree DNA, the example chromosome browser I’m using, or at any vendor with a chromosome browser, you select your matches which are viewed against your chromosomes. Your chromosomes are always the background, meaning in this case, the grey background.

Chromosome 1-4.png

  • This is NOT three copies each of your chromosomes 1, 2, 3 and 4.
  • This is NOT displaying your maternal and paternal copies of each chromosome pictured.
  • We CANNOT tell anything from this image alone relative to maternal and paternal side matches.
  • This IS showing three individual people matching you on your chromosome 1 and the same three people matching you in the same order on every chromosome in the picture.

Let’s look at what this means and why we want to utilize a chromosome browser.

I selected three matches that I know are not all related through the same parent so I can demonstrate how confusing matches can be sorted out. Throughout this article, I’ve tried to explain each concept in at least two ways.

Please note that I’m using only chromsomes 1-4 as examples, not because they are any more, or less, important than the other chromosomes, but because showing all 22 would not add any benefit to the discussion. The X chromosome has a separate inheritance path and I wrote about that here.

Let’s start with a basic question.

Why Would I Want to Use a Chromosome Browser?

Genealogists view matches on chromosome browsers because:

  • We want to see where our matches match us on our chromosomes
  • We’d like to identify our common ancestor with our match
  • We want to assign a matching segment to a specific ancestor or ancestral line, which confirmed those ancestors as ours
  • When multiple people match us on the same location on the chromosome browser, that’s a hint telling us that we need to scrutinize those matches more closely to determine if those people match us on our maternal or paternal side which is the first step in assigning that segment to an ancestor

Once we accurately assign a segment to an ancestor, when anyone else matches us (and those other people) on that same segment, we know which ancestral line they match through – which is a great head start in terms of identifying our common ancestor with our new match.

That’s a genetic genealogy home run!

Home Runs 

There are four bases in a genetic genealogy home run.

  1. Determine whether you actually match someone on the same segment
  2. Which is the first step in determining that you match a group of people on the same segment
  3. And that you descend from a common ancestor
  4. The fourth step, or the home run, is to determine which ancestor you have in common, assigning that segment to that ancestor

If you can’t see segment information, you can’t use a chromosome browser and you can’t confirm the match on that segment, nor can you assign that segment to a particular ancestor, or ancestral couple.

The entire purpose of genealogy is to identify and confirm ancestors. Genetic genealogy confirms the paper trail and breaks down even more brick walls.

But before you can do that, you have to understand what matches mean and how to use them.

The first step is to understand that our chromosomes are double-sided and you can’ t see both of your chromosomes at once!

Double Sided – You Can’t See Both of Your Chromosomes at Once

The confusing part of the chromosome browser is that it can only “see” your two chromosomes blended as one. They are both there, but you just can’t see them separately.

Here’s the important concept:

You have 2 copies of chromosomes 1 through 22 – one copy that you received from your mother and one from your father, but you can’t “see” them separately.

When your DNA is sequenced, your DNA from your parents’ chromosomes emerges as if it has been through a blender. Your mother’s chromosome 1 and your father’s chromosome 1 are blended together. That means that without additional information, the vendor can’t tell which matches are from your father’s side and which are from your mother’s side – and neither can you.

All the vendor can tell is that someone matches you on the blended version of your parents. This isn’t a negative reflection on the vendors, it’s just how the science works.

Chromosome 1.png

Applying this to chromosome 1, above, means that each segment from each person, the blue person, the red person and the teal person might match you on either one of your chromosomes – the paternal chromosome or the maternal chromosome – but because the DNA of your mother and father are blended – there’s no way without additional information to sort your chromosome 1 into a maternal and paternal “side.”

Hence, you’re viewing “one” copy of your combined chromosomes above, but it’s actually “two-sided” with both maternal and paternal matches displayed in the chromosome browser.

Parent-Child Matches

Let’s explain this another way.

Chromosome parent.png

The example above shows one of my parents matching me. Don’t be deceived by the color blue which is selected randomly. It could be either parent. We don’t know.

You can see that I match my parent on the entire length of chromosome 1, but there is no way for me to tell if I’m looking at my mother’s match or my father’s match, because both of my parents (and my children) will match me on exactly the same locations (all of them) on my chromosome 1.

Chromosome parent child.png

In fact, here is a combination of my children and my parents matching me on my chromosome 1.

To sort out who is matching on paternal and maternal chromosomes, or the double sides, I need more information. Let’s look at how inheritance works.

Stay with me!

Inheritance Example

Let’s take a look at how inheritance works visually, using an example segment on chromosome 1.

Chromosome inheritance.png

In the example above:

  • The first column shows addresses 1-10 on chromosome 1. In this illustration, we are only looking at positions, chromosome locations or addresses 1-10, but real chromosomes have tens of thousands of addresses. Think of your chromosome as a street with the same house numbers on both sides. One side is Mom’s and one side is Dad’s, but you can’t tell which is which by looking at the house numbers because the house numbers are identical on both sides of the street.
  • The DNA pieces, or nucleotides (T, A, C or G,) that you received from your Mom are shown in the column labeled Mom #1, meaning we’re looking at your mother’s pink chromosome #1 at addresses 1-10. In our example she has all As that live on her side of the street at addresses 1-10.
  • The DNA pieces that you received from your Dad are shown in the blue column and are all Cs living on his side of the street in locations 1-10.

In other words, the values that live in the Mom and Dad locations on your chromosome streets are different. Two different faces.

However, all that the laboratory equipment can see is that there are two values at address 1, A and C, in no particular order. The lab can’t tell which nucleotide came from which parent or which side of the street they live on.

The DNA sequencer knows that it found two values at each address, meaning that there are two DNA strands, but the output is jumbled, as shown in the First and Second read columns. The machine knows that you have an A and C at the first address, and a C and A at the second address, but it can’t put the sequence of all As together and the sequence of all Cs together. What the sequencer sees is entirely unordered.

This happens because your maternal and paternal DNA is mixed together during the extraction process.

Chromosome actual

Click to enlarge image.

Looking at the portion of chromosome 1 where the blue and teal people both match you – your actual blended values are shown overlayed on that segment, above. We don’t know why the blue and the teal people are matching you. They could be matching because they have all As (maternal), all Cs (paternal) or some combination of As and Cs (a false positive match that is identical by chance.)

There are only two ways to reassemble your nucleotides (T, A, C, and G) in order and then to identify the sides as maternal and paternal – phasing and matching.

As you read this next section, it does NOT mean that you must have a parent for a chromosome browser to be useful – but it does mean you need to understand these concepts.

There are two types of phasing.

Parental Phasing

  • Parental Phasing is when your DNA is compared against that of one or both parents and sorted based on that comparison.

Chromosome inheritance actual.png

Parental phasing requires that at least one parent’s DNA is available, has been sequenced and is available for matching.

In our example, Dad’s first 10 locations (that you inherited) on chromosome 1 are shown, at left, with your two values shown as the first and second reads. One of your read values came from your father and the other one came from your mother. In this case, the Cs came from your father. (I’m using A and C as examples, but the values could just as easily be T or G or any combination.)

When parental phasing occurs, the DNA of one of your parents is compared to yours. In this case, your Dad gave you a C in locations 1-10.

Now, the vendor can look at your DNA and assign your DNA to one parent or the other. There can be some complicating factors, like if both your parents have the same nucleotides, but let’s keep our example simple.

In our example above, you can see that I’ve colored portions of the first and second strands blue to represent that the C value at that address can be assigned through parental phasing to your father.

Conversely, because your mother’s DNA is NOT available in our example, we can’t compare your DNA to hers, but all is not lost. Because we know which nucleotides came from your father, the remaining nucleotides had to come from your mother. Hence, the As remain after the Cs are assigned to your father and belong to your mother. These remaining nucleotides can logically be recombined into your mother’s DNA – because we’ve subtracted Dad’s DNA.

I’ve reassembled Mom, in pink, at right.

Statistical/Academic Phasing

  • A second type of phasing uses something referred to as statistical or academic phasing.

Statistical phasing is less successful because it uses statistical calculations based on reference populations. In other words, it uses a “most likely” scenario.

By studying reference populations, we know scientifically that, generally, for our example addresses 1-10, we either see all As or all Cs grouped together.

Based on this knowledge, the Cs can then logically be grouped together on one “side” and As grouped together on the other “side,” but we still have no way to know which side is maternal or paternal for you. We only know that normally, in a specific population, we see all As or all Cs. After assigning strings or groups of nucleotides together, the algorithm then attempts to see which groups are found together, thereby assigning genetic “sides.” Assigning the wrong groups to the wrong side sometimes happens using statistical phasing and is called strand swap.

Once the DNA is assigned to physical “sides” without a parent or matching, we still can’t identify which side is paternal and which is maternal for you.

Statistical or academic phasing isn’t always accurate, in part because of the differences found in various reference populations and resulting admixture. Sometimes segments don’t match well with any population. As more people test and more reference populations become available, statistical/academic phasing improves. 23andMe uses academic phasing for ethnicity, resulting in a strand swap error for me. Ancestry uses academic phasing before matching.

By comparison to statistical or academic phasing, parental phasing with either or both parents is highly accurate which is why we test our parents and grandparents whenever possible. Even if the vendor doesn’t use our parents’ results, we certainly can!

If someone matches you and your parent too, you know that match is from that parent’s side of your tree.

Matching

The second methodology to sort your DNA into maternal and paternal sides is matching, either with or without your parents.

Matching to multiple known relatives on specific segments assigns those segments of your DNA to the common ancestor of those individuals.

In other words, when I match my first cousin, and our genealogy indicates that we share grandparents – assuming we match on the appropriate amount of DNA for the expected relationship – that match goes a long way to confirming our common ancestor(s).

The closer the relationship, the more comfortable we can be with the confirmation. For example, if you match someone at a parental level, they must be either your biological mother, father or child.

While parent, sibling and close relationships are relatively obvious, more distant relationships are not and can occur though unknown or multiple ancestors. In those cases, we need multiple matches through different children of that ancestor to reasonably confirm ancestral descent.

Ok, but how do we do that? Let’s start with some basics that can be confusing.

What are we really seeing when we look at a chromosome browser?

The Grey/Opaque Background is Your Chromosome

It’s important to realize that you will see as many images of your chromosome(s) as people you have selected to match against.

This means that if you’ve selected 3 people to match against your chromosomes, then you’ll see three images of your chromosome 1, three images of your chromosome 2, three images of your chromosome 3, three images of your chromosome 4, and so forth.

Remember, chromosomes are double-sided, so you don’t know whether these are maternal or paternal matches (or imposters.)

In the illustration below, I’ve selected three people to match against my chromosomes in the chromosome browser. One person is shown as a blue match, one as a red match, and one as a teal match. Where these three people match me on each chromosome is shown by the colored segments on the three separate images.

Chromosome 1.png

My chromosome 1 is shown above. These images are simply three people matching to my chromosome 1, stacked on top of each other, like cordwood.

The first image is for the blue person. The second image is for the red person. The third image is for the teal person.

If I selected another person, they would be assigned a different color (by the system) and a fourth stacked image would occur.

These stacked images of your chromosomes are NOT inherently maternal or paternal.

In other words, the blue person could match me maternally and the red person paternally, or any combination of maternal and paternal. Colors are not relevant – in other words colors are system assigned randomly.

Notice that portions of the blue and teal matches overlap at some of the same locations/addresses, which is immediately visible when using a chromosome browser. These areas of common matching are of particular interest.

Let’s look closer at how chromosome browser matching works.

What about those colorful bars?

Chromosome Browser Matching

When you look at your chromosome browser matches, you may see colored bars on several chromosomes. In the display for each chromosome, the same color will always be shown in the same order. Most people, unless very close relatives, won’t match you on every chromosome.

Below, we’re looking at three individuals matching on my chromosomes 1, 2, 3 and 4.

Chromosome browser.png

The blue person will be shown in location A on every chromosome at the top. You can see that the blue person does not match me on chromosome 2 but does match me on chromosomes 1, 3 and 4.

The red person will always be shown in the second position, B, on each chromosome. The red person does not match me on chromosomes 2 or 4.

The aqua person will always be shown in position C on each chromosome. The aqua person matches me on at least a small segment of chromosomes 1-4.

When you close the browser and select different people to match, the colors will change and the stacking order perhaps, but each person selected will always be consistently displayed in the same position on all of your chromosomes each time you view.

The Same Address – Stacked Matches

In the example above, we can see that several locations show stacked segments in the same location on the browser.

Chromosome browser locations.png

This means that on chromosome 1, the blue and green person both match me on at least part of the same addresses – the areas that overlap fully. Remember, we don’t know if that means the maternal side or the paternal side of the street. Each match could match on the same or different sides.

Said another way, blue could be maternal and teal could be paternal (or vice versa,) or both could be maternal or paternal. One or the other or both could be imposters, although with large segments that’s very unlikely.

On chromosome 4, blue and teal both match me on two common locations, but the teal person extends beyond the length of the matching blue segments.

Chromosome 3 is different because all three people match me at the same address. Even though the red and teal matching segments are longer, the shared portion of the segment between all three people, the length of the blue segment, is significant.

The fact that the stacked matches are in the same places on the chromosomes, directly above/below each other, DOES NOT mean the matches also match each other.

The only way to know whether these matches are both on one side of my tree is whether or not they match each other. Do they look the same or different? One face or two? We can’t tell from this view alone.

We need to evaluate!

Two Faces – Matching Can be Deceptive!

What do these matches mean? Let’s ask and answer a few questions.

  • Does a stacked match mean that one of these people match on my mother’s side and one on my father’s side?

They might, but stacked matches don’t MEAN that.

If one match is maternal, and one is paternal, they still appear at the same location on your chromosome browser because Mom and Dad each have a side of the street, meaning a chromosome that you inherited.

Remember in our example that even though they have the same street address, Dad has blue Cs and Mom has pink As living at that location. In other words, their faces look different. So unless Mom and Dad have the same DNA on that entire segment of addresses, 1-10, Mom and Dad won’t match each other.

Therefore, my maternal and paternal matches won’t match each other either on that segment either, unless:

  1. They are related to me through both of my parents and on that specific location.
  2. My mother and father are related to each other and their DNA is the same on that segment.
  3. There is significant endogamy that causes my parents to share DNA segments from their more distant ancestors, even though they are not related in the past few generations.
  4. The segments are small (segments less than 7cM are false matches roughly 50% of the time) and therefore the match is simply identical by chance. I wrote about that here. The chart showing valid cM match percentages is shown here, but to summarize, 7-8 cMs are valid roughly 46% of the time, 8-9 cM roughly 66%, 9-10 cM roughly 91%, 10-11 cM roughly 95, but 100 is not reached until about 20 cM and I have seen a few exceptions above that, especially when imputation is involved.

Chromosome inheritance match.png

In this inheritance example, we see that pink Match #1 is from Mom’s side and matches the DNA I inherited from pink Mom. Blue Match #2 is from Dad’s side and matches the DNA I inherited from blue Dad. But as you can see, Match #1 and Match #2 do not match each other.

Therefore, the address is only half the story (double-sided.)

What lives at the address is the other half. Mom and Dad have two separate faces!

Chromosome actual overlay

Click to enlarge image

Looking at our example of what our DNA in parental order really looks like on chromosome 1, we see that the blue person actually matches on my maternal side with all As, and the teal person on the paternal side with all Cs.

  • Does a stacked match on the chromosome browser mean that two people match each other?

Sometimes it happens, but not necessarily, as shown in our example above. The blue and teal person would not match each other. Remember, addresses (the street is double-sided) but the nucleotides that live at that address tell the real story. Think two different looking faces, Mom’s and Dad’s, peering out those windows.

If stacked matches match each other too – then they match me on the same parental side. If they don’t match each other, don’t be deceived just because they live at the same address. Remember – Mom’s and Dad’s two faces look different.

For example, if both the blue and teal person match me maternally, with all As, they would also match each other. The addresses match and the values that live at the address match too. They look exactly the same – so they both match me on either my maternal or paternal side – but it’s up to me to figure out which is which using genealogy.

Chromosome actual maternal.png

Click to enlarge image

When my matches do match each other on this segment, plus match me of course, it’s called triangulation.

Triangulation – Think of 3

If my two matches match each other on this segment, in addition to me, it’s called triangulation which is genealogically significant, assuming:

  1. That the triangulated people are not closely related. Triangulation with two siblings, for example, isn’t terribly significant because the common ancestor is only their parents. Same situation with a child and a parent.
  2. The triangulated segments are not small. Triangulation, like matching, on small segments can happen by chance.
  3. Enough people triangulate on the same segment that descends from a common ancestor to confirm the validity of the common ancestor’s identity, also confirming that the match is identical by descent, not identical by chance.

Chromosome inheritance triangulation.png

The key to determining whether my two matches both match me on my maternal side (above) or paternal side is whether they also match each other.

If so, assuming all three of the conditions above are true, we triangulate.

Next, let’s look at a three-person match on the same segment and how to determine if they triangulate.

Three Way Matching and Identifying Imposters

Chromosome 3 in our example is slightly different, because all three people match me on at least a portion of that segment, meaning at the same address. The red and teal segments line up directly under the blue segment – so the portion that I can potentially match identically to all 3 people is the length of the blue segment. It’s easy to get excited, but don’t get excited quite yet.

Chromosome 3 way match.png

Given that three people match me on the same street address/location, one of the following three situations must be true:

  • Situation 1- All three people match each other in addition to me, on that same segment, which means that all three of them match me on either the maternal or paternal side. This confirms that we are related on the same side, but not how or which side.

Chromosome paternal.png

In order to determine which side, maternal or paternal, I need to look at their and my genealogy. The blue arrows in these examples mean that I’ve determined these matches to all be on my father’s side utilizing a combination of genealogy plus DNA matching. If your parent is alive, this part is easy. If not, you’ll need to utilize common matching and/or triangulation with known relatives.

  • Situation 2 – Of these three people, Cheryl, the blue bar on top, matches me but does not match the other two. Charlene and David, the red and teal, match each other, plus me, but not Cheryl.

Chromosome maternal paternal.png

This means that at least either my maternal or paternal side is represented, given that Charlene and David also match each other. Until I can look at the identity of who matches, or their genealogy, I can’t tell which person or people descend from which side.

In this case, I’ve determined that Cheryl, my first cousin, with the pink arrow matches me on Mom’s side and Charlene and David, with the blue arrows, match me on Dad’s side. So both my maternal and paternal sides are represented – my maternal side with the pink arrow as well as my father’s side with the blue arrows.

If Cheryl was a more distant match, I would need additional triangulated matches to family members to confirm her match as legitimate and not a false positive or identical by chance.

  • Situation 3 – Of the three people, all three match me at the same addresses, but none of the three people match each other. How is this even possible?

Chromosome identical by chance.png

This situation seems very counter-intuitive since I have only 2 chromosomes, one from Mom and one from Dad – 2 sidesof the street. It is confusing until you realize that one match (Cheryl and me, pink arrow) would be maternal, one would be paternal (Charlene and me, blue arrow) and the third (David and me, red arrows) would have DNA that bounces back and forth between my maternal and paternal sides, meaning the match with David is identical by chance (IBC.)

This means the third person, David, would match me, but not the people that are actually maternal and paternal matches. Let’s take a look at how this works

Chromosome maternal paternal IBC.png

The addresses are the same, but the values that live at the addresses are not in this third scenario.

Maternal pink Match #1 is Cheryl, paternal blue Match #2 is Charlene.

In this example, Match #3, David, matches me because he has pink and blue at the same addresses that Mom and Dad have pink and blue, but he doesn’t have all pink (Mom) nor all blue (Dad), so he does NOT match either Cheryl or Charlene. This means that he is not a valid genealogical match – but is instead what is known as a false positive – identical by chance, not by descent. In essence, a wily genetic imposter waiting to fool unwary genealogists!

In his case, David is literally “two-faced” with parts of both values that live in the maternal house and the paternal house at those addresses. He is a “two-faced imposter” because he has elements of both but isn’t either maternal or paternal.

This is the perfect example of why matching and triangulating to known and confirmed family members is critical.

All three people, Cheryl, Charlene and David match me (double sided chromosomes), but none of them match each other (two legitimate faces – one from each parent’s side plus one imposter that doesn’t match either the legitimate maternal or paternal relatives on that segment.)

Remember Three Things

  1. Double-Sided – Mom and Dad both have the same addresses on both sides of each chromosome street.
  2. Two Legitimate Faces – The DNA values, nucleotides, will have a unique pattern for both your Mom and Dad (unless they are endogamous or related) and therefore, there are two legitimate matching patterns on each chromsome – one for Mom and one for Dad. Two legitimate and different faces peering out of the houses on Mom’s side and Dad’s side of the street.
  3. Two-Faced Imposters – those identical by chance matches which zig-zag back and forth between Mom and Dad’s DNA at any given address (segment), don’t match confirmed maternal and paternal relatives on the same segment, and are confusing imposters.

Are you ready to hit your home run?

What’s Next?

Now that we understand how matching and triangulation works and why, let’s put this to work at the vendors. Join me for my article in a few days, Triangulation in Action at Family Tree DNA, MyHeritage, 23andMe and GedMatch.

We will step through how triangulation works at each vendor. You’ll have matches at each vendor that you don’ t have elsewhere. If you haven’t transferred your DNA file yet, you still have time with the step by step instructions below:

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Disclosure

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

Thank you so much.

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DNAPainter Instructions and Resources

DNAPainter garden

DNAPainter is one of my favorite tools because DNAPainter, just as its name implies, facilitates users painting their matches’ segments on their various chromosomes. It’s genetic art and your ancestors provide the paint!

People use DNAPainter in different ways for various purposes. I utilize DNAPainter to paint matches with whom I’ve identified a common ancestor and therefore know the historical “identity” of the ancestors who contributed that segment.

Those colors in the graphic above are segments identified to different ancestors through DNA matching.

DNAPainter includes:

  • The ability to paint or map your chromosomes with your matching segments as well as your ethnicity segments
  • The ability to upload or create trees and mark individuals you’ve confirmed as your genetic ancestors
  • A number of tools including the Shared cM Tool to show ranges of relationships based on your match level and WATO (what are the odds) tool to statistically predict or estimate various positions in a family based on relationships to other known family members

A Repository

I’ve created this article as a quick-reference instructional repository for the articles I’ve written about DNAPainter. As I write more articles, I’ll add them here as well.

  • The Chromosome Sudoku article introduced DNAPainter and how to use the tool. This is a step-by-step guide for beginners.

DNA Painter – Chromosome Sudoku for Genetic Genealogy Addicts

  • Where do you find those matches to paint? At the vendors such as Family Tree DNA, MyHeritage, 23andMe and GedMatch, of course. The Mining Vendor Matches article explains how.

DNAPainter – Mining Vendor Matches to Paint Your Chromosomes

  • Touring the Chromosome Garden explains how to interpret the results of DNAPainter, and how automatic triangulation just “happens” as you paint. I also discuss ethnicity painting and how to handle questionable ancestors.

DNA Painter – Touring the Chromosome Garden

  • You can prove or disprove a half-sibling relationship using DNAPainter – for you and also for other people in your tree.

Proving or Disproving a Half Sibling Relationship Using DNAPainter

  • Not long after Dana Leeds introduced The Leeds Method of clustering matches into 4 groups representing your 4 grandparents, I adapted her method to DNAPainter.

DNAPainter: Painting the Leeds Method Matches

  • Ethnicity painting is a wonderful tool to help identify Native American or minority ancestry segments by utilizing your estimated ethnicity segments. Minority in this context means minority to you.

Native American and Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments

  • Creating a tree or uploading a GEDCOM file provides you with Ancestral Trees where you can indicate which people in your tree are genetically confirmed as your ancestors.

DNAPainter: Ancestral Trees

  • Of course, the key to DNA painting is to have as many matches and segments as possible identified to specific ancestors. In order to do that, you need to have your DNA working for you at as many vendors as possible that provide you with matching and a chromosome browser. Ancestry does not have a browser or provide specific paintable segment information, but the other major vendors do, and you can transfer Ancestry results elsewhere.

DNAPainter: Painting “Bucketed” Family Tree DNA Maternal and Paternal Family Finder Matches in One Fell Swoop

  • Family Tree DNA offers the wonderful feature of assigning your matches to either a maternal or paternal bucket if you connect 4th cousins or closer on your tree. Until now, there was no way to paint that information at DNAPainter en masse, only manually one at a time. DNAPainter’s new tool facilitates a mass painting of phased, parentally bucketed matches to the appropriate chromosome – meaning that triangulation groups are automatically formed!

Triangulation in Action at DNAPainter

  • DNAPainter provides the ability to triangulate “automatically” when you paint your segments as long as you know which side, maternal or paternal, the match originates. Looking at the common ancestors of your matches on a specific segments tracks that segment back in time to its origins. Painting matches from all vendors who provide segment information facilitates once single repository for walking your DNA information back in time.

DNA Transfers

Some vendors don’t require you to test at their company and allow transfers into their systems from other vendors. Those vendors do charge a small fee to unlock their advanced features, but not as much as testing there.

Ancestry and 23andMe DO NOT allow transfers of DNA from other vendors INTO their systems, but they do allow you to download your raw DNA file to transfer TO other vendors.

Family Tree DNA, MyHeritage and GedMatch all 3 accept files uploaded FROM other vendors. Family Tree DNA and MyHeritage also allow you to download your raw data file to transfer TO other vendors.

These articles provide step-by-step instructions how to download your results from the various vendors and how to upload to that vendor, when possible.

Here are some suggestions about DNA testing and a transfer strategy:

Paint and have fun!!!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research