2018 – The Year of the Segment

Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

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Thank you so much.

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Family Tree DNA’s Mitochondrial Haplotree

On September 27th, 2018 Family Tree DNA published the largest Y haplotree in the world, based on SNP tests taken by customers. Now, less than two weeks later, they’ve added an exhaustive mitochondrial DNA (mtDNA) public haplotree as well, making this information universally available to everyone.

Family Tree DNA’s mtDNA Haplotree is based on the latest version of the mtDNA Phylotree. The new Family Tree DNA tree includes 5,434 branches derived from more than 150,000 full sequence results from 180+ different countries of origin. Family Tree DNA‘s tree has SIX TIMES more samples than the Phylotree. Furthermore, Family Tree DNA only includes full sequence results, where Phylotree includes partial results.

This new tree is a goldmine! What does it provide that that’s unique? Locations – lots of locations!

The Official Phylotree

Unlike the Y DNA tree, which is literally defined and constructed by the genetic community, new mitochondrial DNA branches cannot be added to the official mitochondrial Phylotree by Family Tree DNA. Haplogroups, meaning new branches in the form of SNPs are added to the Y tree as new SNPs are discovered and inserted into the tree in their proper location. The mitochondrial DNA phylotree can’t be expanded by a vendor in that manner.

The official mitochondrial Phylotree is maintained at www.phylotree.org and is episodically updated. The most recent version was mtDNA tree build 17, published and updated in February 2016. You can view version history here.

Mitochondrial Phylogenic Tree Version 17

Version 17 of the official mitochondrial tree consists of approximately 5,400 nodes, or branches with a total of 24,275 samples uploaded by both private individuals and academic researchers which are then utilized to define haplogroup branches.

Individuals can upload their own full sequence results from Family Tree DNA, but they must be in a specific format. I keep meaning to write detailed instructions about how to submit your full sequence test results, but so far, that has repeatedly slipped off of the schedule. I’ll try to do this soon.

In a nutshell, download your FASTA file from Family Tree DNA and continue with the submission process here. The instructions are below the submission box, so scroll down.

In any case, the way that new branches are added to the phylotree is when enough new results with a specific mutation are submitted and evaluated, the tree will have a new branch added in the next version. That magic number of individuals with the same mutation was 3 in the past, but now that so many more people are testing, I’m not sure if that number holds, or if it should. Spontaneous mutations can and do happen at the same location. The Phylotree branches mean that the haplogroup defining mutations indicate a common ancestor, not de novo separate mutations. That’s why analysis has to be completed on each candidate branch.

How do Mitochondrial DNA Branches Work?

If you are a member of haplogroup J1c2f today, and a certain number of people in that haplogroup have another common mutation, that new mutation may be assigned the designation of 1, as in J1c2f1, where anyone in haplogroup J1c2f who has that mutation will be assigned to J1c2f1.

While the alternating letter/number format is very easy to follow, some problems and challenges do exist with the alternating letter/number haplogroup naming system.

The Name of the Game

The letter number system works fine if not many new branches are added, branches don’t shuffle and if the growth is slow. However, that’s not the case anymore.

If you recall, back in July of 2012, which is equivalent to the genetic dark ages (I know, right), the Y tree was also represented with the same type of letter number terminology used on the mitochondrial tree today.

For example, Y DNA haplogroup R-M269 was known as R1b1a2, and before that the same haplogroup was known as R1b1c. The changes occurred because so many new haplgroups were being discovered that a new sprout wasn’t added from time to time, but entire branches had to be sawed off and either discarded or grafted elsewhere. It became obvious that while the R1b1a2 version was nice, because it was visually obvious that R1b1a2a was just one step below R1b1a2, that long term, that format just wasn’t going to be able to work anymore. New branches weren’t just sprouting, wholesale shuffling was occurring. Believe it or not, we’re still on the frontier of genetic science.

In 2012, the change to the SNP based haplogroup designations was introduced by Family Tree DNA, and adopted within the community.

The ISOGG tree, the only tree that still includes the older letter/number system and creates extended letter number haplogroup names as new SNPs are added provides us with an example of how much the Y tree has grown.

You can see that the letter/number format haplogroups to the far right are 19 locations in length. The assigned SNP or SNPs associated with that haplogroup are shown as well. Those 19-digit haplogroup names are just too unwieldy, and new haplogroups are still being discovered daily.

It’s 2012 All Over Again

That’s where we are with mitochondrial DNA today, but unlike Y DNA naming, a vendor can’t just make that change to a terminal SNP based naming system because all vendors conform to the published Phylotree.

However, in this case, the vendor, Family Tree DNA has more than 6 times the number of full sequence mitochondrial results than the mitochondrial reference model Phylotree. If you look at the haplogroup projects at Family Tree DNA, you’ll notice that (some) administrators routinely group results by a specific mutation that is found within a named haplogroup, meaning that the people with the mutation form a subgroup that they believe is worthy of its own haplogroup subgroup name. The problem is that unless enough people upload their results to Phylotree, that subgroup will never be identified, so a new haplogroup won’t be added.

If the entire Family Tree DNA data base were to be uploaded to Phylotree, can you imagine how many new haplogroups would need to be formed? Of course, Family Tree DNA can’t do that, but individual testers can and should.

Challenges for Vendors

The challenge for vendors is that every time the phylotree tree is updated and a new version is produced, the vendors must “rerun” their existing tester samples against the new haplogroup defining mutations to update their testers’ haplogroup results.

In some cases, entire haplogroups are obsoleted and branches moved, so it’s not a simple matter of just adding a single letter or digit. Rearranging occurs, and will occur more and more, the more tests that are uploaded to Phylotree.

For example, in the Phylotree V17 update, haplogroup A4a1 became A1a. In other words, some haplogroups became entirely obsolete and were inserted onto other branches of the tree.

In the current version of the Phylotree, haplogroup A4 has been retired.

Keep in mind that all haplogroup assignments are the cumulative combination of all of the upstream direct haplogroups. That means that haplogroup A4a1, in the prior version, had all of the haplogroup defining mutations shown in bold in the chart below. In the V17 version, haplogroup A1a contains all of the mutations shown in bold red. You might notice that the haplogroup A4 defining mutation T16362C is no longer included, and haplogroup A4, plus all 9 downstream haplogroups which were previously dependent on T16362C have been retired. A4a1 is now A1a.

Taking a look at the mitochondrial tree in pedigree fashion, we can see haplogroup A4a1 in Build 15 from September 2012, below.

Followed by haplogroup A1a in the current Build 17.

Full Sequence Versus Chip Based Mitochondrial Testing

While Family Tree DNA tests the full sequence of their customers who purchase that level of testing, other vendors don’t, and these changes wreak havoc for those vendors, and for compatibility for customer attempting to compare between data bases and information from different vendors.

That means that without knowing which version of Phylotree a vendor currently uses, you may not be able to compare meaningfully with another user, depending on changes that occurred that haplogroup between versions. You also need to know which vendor each person utilized for testing and if that vendor’s mitochondrial results are generated from an autosomal style chip or are actually a full mitochondrial sequence test. Utilizing the ISOGG mtDNA testing comparison chart, here’s a cheat sheet.

Vendor No Mitochondrial Chip based haplogroup only mitochondrial Full Sequence mitochondrial
Family Tree DNA No Yes – V17
23andMe Yes – Build V7 No
Ancestry None
LivingDNA Yes – Build V17 No
MyHeritage None
Genographic V2 Yes – Build V16 No

Of the chip-based vendors, 23andMe is the most out of date, with V7 extending back to November of 2009. The Genographic Project has done the best job of updating from previous versions. LivingDNA entered the marketplace in 2016, utilizing V17 when they began.

Family Tree DNA’s mitochondrial test is not autosomal chip based, so they don’t encounter the problem of not having tested needed locations because they test all locations. They have upgraded their customers several times over the years, with the current version being V17.

Family Tree DNA’s mitochondrial DNA test is a separate test from their Family Finder autosomal test while the chip-based vendors provide a base-level haplogroup designation that is included in their autosomal product. However, for chip-based vendors, updating that information can be very challenging, especially when significant branch changes occur.

Let’s take a closer look.

Challenges for Autosomal Chip-Based Vendors Providing Mitochondrial Results

SNP based mitochondrial and Y DNA testing for basic haplogroups that some vendors include with autosomal DNA is a mixed blessing. The up side, you receive a basic haplogroup. The down aide, the vendor doesn’t test anyplace near all of the 16,569 mitochondrial DNA SNP locations.

I wrote in detail about how this works in the article, Haplogroup Comparisons Between Family Tree DNA and 23andMe. Since that time, LivingDNA has also added some level of haplogroup reporting through autosomal testing.

How does this work?

Let’s say that a vendor tests approximately 4000 mitochondrial DNA SNPs on the autosomal chip that you submit for autosomal DNA testing. First, that’s 4000 locations they can’t use for autosomal SNPs, because a DNA chip has a finite number of locations that can be utilized.

Secondly, and more importantly, it’s devilishly difficult to “predict” haplogroups at a detailed level correctly. Therefore, some customers receive a partial haplogroup, such as J1c, and some receive more detail.

It’s even more difficult, sometimes impossible, to update haplogroups when new Phylotree versions are released.

Why is Haplogroup Prediction and Updating so Difficult?

The full mitochondrial DNA sequence is 16,569 locations in length, plus or minus insertions and deletions. The full sequence test does exactly what that name implies, tests every single location.

Now, let’s say, by way of example, that location 10,000 isn’t used to determine any haplogroup today, so the chip-based vendors don’t test it. They only have room for 4000 of those locations on their chip, so they must use them wisely. They aren’t about to waste one of those 4000 spaces on a location that isn’t utilized in haplogroup determination.

Let’s say in the next release, V2, that location 10,000 is now used for just one haplogroup definition, but the haplogroup assignment still works without it. In other words, previously to define that haplogroup, location 9000 was used, and now a specific value at location 10,000 has been added. Assuming you have the correct value at 9,000, you’re still golden, even if the vendor doesn’t test location 10,000. No problem.

However, in V3, now there are new haplogroup subgroups in two different branches that use location 10,000 as a terminal SNP. A terminal SNP is the last SNP in line that define your results most granularly. In haplogroup J1c2f, the SNP(s) that define the f are my terminal SNPs. But if the vendor doesn’t test location 10,000, then the mutation there can’t be used to determine my terminal SNP, and my full haplogroup will be incomplete. What now?

If location 10,000 isn’t tested, the vendor can’t assign those new haplogroups, and if any other haplogroup branch is dependent on this SNP location, they can’t be assigned correctly either. Changes between releases are cumulative, so the more new releases, the further behind the haplogroup designations become.

Multiple problems exist:

  • Even if those vendors were to recalculate their customer’s results to update haplogroups, they can’t report on locations they never tested, so their haplogroup assignments become increasingly outdated.
  • To update your haplogroup when new locations need to be tested, the vendor would have to actually rerun your actual DNA test itself, NOT just update your results in the data base. They can’t update results for locations they didn’t test.
  • Without running the full mitochondrial sequence, the haplogroup can never be more current than the locations on the vendor’s chip at the time the actual DNA test is run.
  • No vendor runs a full sequence test on an autosomal chip. A full mitochondrial sequence test at Family Tree DNA is required for that.
  • Furthermore, results matching can’t be performed without the type of test performed at Family Tree DNA, because people carry mutations other than haplogroup defining mutations. Haplogroup only information is entertaining and can sometimes provide you with base information about the origins of your ancestor (Native, African, European, Asian,) but quickly loses its appeal because it’s not specific, can’t be used for matching and can’t reliably be upgraded.

The lack of complete testing also means that while Family Tree DNA can publish this type of tree and contribute to science, the other vendors can’t.

Let’s take a look at Family Tree DNA’s new tree.

Finding the Tree

To view the tree, click here, but do NOT sign in to your account. Simply scroll to the bottom of the page where you will see the options for both the Y DNA Haplotree and the mtDNA Haplotree under the Community heading.

Click on mtDNA Haplotree.

If you are a Family Tree DNA customer, you can view both the Y and mitochondrial trees from your personal page as well. You don’t have to have taken either the Y or mitochondrial DNA tests to view the trees.

Browsing the mtDNA Tree

Across the top, you’ll see the major haplogroups.

I’m using haplogroup M as an example, because it’s far up the tree and has lots of subgroups. Only full sequence results are shown on the tree.

The basic functionality of the new mitochondrial tree, meaning how it works, is the same as the Y tree, which I wrote about in the Family Tree DNA’s PUBLIC Y DNA Haplotree.

You can view the tree in two formats, countries or variants, in the upper left-hand corner. View is not the same thing as search.

When viewing the mitochondrial DNA phylotree by country, we see that haplogroup M has a total of 1339 entries, which means M and everything below M on the tree.

However, the flags showing in the M row are only for people whose full mitochondrial sequence puts them into M directly, with no subgroup.

As you can see, there are only 12: 6 people in Australia, and one in 5 other countries. These are the locations of the most distant known ancestor of those testers. If they have not completed the maternal Country of Origin on the Earliest Known Ancestor tab, nothing shows for the location.

Viewing the tree by variant shows the haplogroup defining mutations, but NOT any individual mutations beyond those that are haplogroup defining.

For each haplogroup, click on the three dots to the right to display the country report for that haplogroup.

The Country Report

The Country Report provides three columns.

The column titled Branch Participants M shows only the total of people in haplogroup M itself, with no upstream or downstream results, meaning excluding M1, M2, etc. Just the individuals in M itself. Be sure to note that there may be multiple pages to click through, at bottom right.

The second column, Downstream Participants – M and Downstream (Excluding other Letters) means the people in haplogroup M and M subclades. You may wonder why this column is included, but realize that branches of haplogroup M include haplogroups G, Q, C, Z, D and E. The middle column only includes M and subgroups that begin with M, without the others, meaning M, M10, M11 but not G, Q, etc.

Of course the final column, All Downstream Participants – M and Downstream (Including other Letters) shows all of the haplogroup M participants, meaning M and all subclades, including all other haplogroups beneath M, such as M10, G, Q, etc..

What Can I Do with This Information?

Unlike the companion Y tree DNA, since surnames change every generation for maternal lineages, there is no requirement to have multiple matching surnames on a branch to be displayed.

Therefore, every person who includes a location for a most distant known ancestor is included in the tree, but surnames are not.

I want to see, at a glance, where the other people in my haplogroup, and the haplogroups that are the “direct ancestral line” of mine are found today. Clusters may mean something genealogically or are at least historically important – and I’ll never be able to view that information any other way. In fact, before this tree was published, I wasn’t able to see this at all. Way to go Family Tree DNA!!

It’s very unlikely that I’ll match every person in my haplogroup – but the history of that haplogroup and all of the participants in that haplogroup are important to that historical lineage of my family. At one time, these people all shared one ancestor and determining when and where that person lived is relevant to my family story.

Searching for Your Haplogroup

I’m searching for haplogroup J1c2f by entering J1c2f in the “Go to Branch Name.”

There it is.

I can see that there are 17 people in Sweden, 13 in Norway, 5 in Germany, 3 in Russia, etc. What’s with the Scandinavian cluster? My most distant known ancestor was found in Germany. There’s something to be learned here that existing records can’t tell me!

The mother branch is J1c2 which shows the majority of individuals in Ireland followed by England. This probably suggests that while J1c2f may have been born in Scandinavia, J1c2 probably was not. According to the supplement to Dr. Doron Behar’s paper, A “Copernican” Reassessment of the Human Mitochondrial DNA tree from its Root, which provides ages for some mitochondrial DNA haplogroups:

Haplogroup How Old Standard Deviation Approximate Age Range in Years
J1c2 9762 2010 7,752 – 11,772
J1c2f 1926 3128 500 – 5,054

I happen to know from communicating with my matches that the haplogroup J1c2f was born more than 500 years ago because my Scandinavian mito-cousins know where their J1c2f cousin was then, and so do I. Mine was in Germany, so we know our common ancestor existed sometime before that 500 year window, and based on our mutations and the mutation tree we created, probably substantially before that 500 year threshold.

Given that J1c2, which doesn’t appear to have been born in Scandinavia is at least 7,700 years old, we can pretty safely conclude that my ancestor wasn’t in Scandinavia roughly 9,000 years ago, but was perhaps 2,000 years, ago when J1c2f was born. What types of population migration and movement happened between 2,000 and 9,000 years ago which would have potentially been responsible for the migration of a people from someplace in Europe into Scandinavia.

The first hint might be that in the Nordic Bronze Age, trade with European cultures became evident, which of course means that traders themselves were present. Scandinavian petroglyphs dating from that era depict ships and art works from as far away as Greece and Egypt have been found.

The climate in Scandinavia was warm during this period, but later deteriorated, pushing the Germanic tribes southward into continental Europe about 3000 years ago. Scandinavian influence was found in eastern Europe, and numerous Germanic tribes claimed Scandinavian origins 2000 years ago, including the Bergundians, Goths, Heruls and Lombards.

Hmmm, that might also explain how my mitochondrial DNA, in the form of my most distant known ancestor arrived in Germany, as well as the distribution into Poland.

Is this my family history? I don’t know for sure, but I do know that the clustering information on the new phylotree provides me with clustering data to direct my search for a historical connection.

What Can You Do?

  • Take a full mitochondrial DNA test. Click here if you’d like to order a test or if you need to upgrade your current test.
  • Enter your Earliest Known Ancestor on the Genealogy tab of your Account Information, accessed by clicking the “Manage Personal Information” beneath your profile photo on your personal page.

The next few steps aren’t related to actually having your results displayed on the phylotree, but they are important to taking full advantage of the power of testing.

  • While viewing your account information, click on the Privacy and Sharing tab, and select to participate in matching, under Matching Preferences.

  • Also consent to Group Project Sharing AND allow your group project administrators to view your full sequence matches so that they can group you properly in any projects that you join. You full sequence mutations will never be shown publicly, only to administrators.

Of course, always click on save when you’re finished.

  • Enter your most distant ancestor information on your Matches Map page by clicking on the “Update Ancestor’s Location” beneath the map.

  • Join a project relevant to your haplogroup, such as the J project for haplogroup J. To join a project, click on myProjects at the top of the page, then on Join Projects.

  • To view available haplogroup projects, scroll down to the bottom of the screen that shows you available projects to join, and click on the letter of your haplogroup in the MTDNA Haplogroup Projects section.

  • Locate the applicable haplogroup, then click through to join the project.

These steps assure that you’ve maximized the benefits of your mitochondrial results for your own research and to your matches as well. Collaborative effort in completing geographic and known ancestor information means that we can all make discoveries.

The article, Working with Mitochondrial DNA Results steps you through you all of the various tools provided to Family Tree DNA testers.

Now, go and see who you match, where your closest matches cluster, and on the new mtDNA Haplotree, what kind of historical ancestral history your locations may reveal. What’s waiting for you?

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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

Family Tree DNA’s PUBLIC Y DNA Haplotree

It’s well known that as a result of Big Y testing that Family Tree DNA has amassed a huge library of Y DNA full sequence results that have revealed new SNPs, meaning new haplotree branches, for testers. That’s how the Y haplotree is built. I wrote about this in the article, Family Tree DNA Names 100,000 New Y DNA SNPs.

Up until now, the tree was only available on each tester’s personal pages, but that’s not the case anymore.

Share the Wealth

Today, Family Tree DNA has made the tree public. Thank you, thank you, THANK YOU Family Tree DNA.

To access the tree, click here, but DON’T sign in. Scroll to the bottom of the page. Keep scrolling, and scrolling…until you see the link under Community that says “Y-DNA Haplotree.” Click there.

The New Public Haplotree

The new public haplotree is amazing.

This tree isn’t just for people who took the Big Y test, but includes anyone who has a haplogroup confirming SNP OR took the Big Y test. Predicted haplogroups, of course, aren’t included.

Each branch includes the location of the most recent known ancestor of individuals who carry that terminal SNP, shown with a flag.

The branches are color coded by the following:

  • Light blue = haplogroup root branches
  • Teal or blue/green = branches with no descendants
  • Dark blue = branches that aren’t roots and that do have at least one descendant branch

The flag location is determined by the most distant known ancestor, so if you don’t have a “Most Distant Known Ancestor” completed, with a location, please, please, complete that field by clicking on “Manage Personal Information” beneath your profile picture on your personal page, then on Genealogy, shown below. Be sure to click on Save when you’re finished!

View Haplotree By

Viewing the haplotree is not the same as searching. “View by” is how the tree is displayed.

Click on the “View By” link to display the options: country, surnames or variant.

You can view by the country (flags), which is the default, the surname or the variants.

Country view, with the flags, is the default. Surname view is shown below.

The third view is variant view. By the way, a variant is another word for SNP. For haplogroup R-M207, there are 8,202 variants, meaning SNPs occurring beneath, or branches.

Reports

On any of the branch links, you’ll see three dots at the far right.

To view reports by country or surname, click on the dots to view the menu, then click on the option you desire.

Country statistics above, surname below. How cool is this!

Searching

The search function is dependent on the view currently selected. If you are in the surname view, then the search function says “Search by Surname” which allows you to enter a surname. I entered Estes.

If I’m not currently on the haplogroup R link, the system tells me that there are 2 Estes results on R. If I’m on the R link, the system just tells me how many results it found for that surname on this branch and if there are others on other branches.

The tree then displays the direct path between R-M207 (haplogroup R root) and the Estes branch.

…lots of branches in-between…

The great thing about this is that I can now see the surnames directly above my ancestral surname, if they meet the criteria to be displayed.

Display criteria is that two people match on the same branch AND that they both have selected public sharing. Requiring two surnames per branch confirms that result.

If you want to look at a specific variant, you can enter that variant name (BY490) in the search box and see the surnames associated with the variant. The click on “View by” to change the view from country (maps) to surnames to variants.

Change from country to surname.

And from surname to variants.

What geeky fun!!!

Go to Branch Name

If you want to research a specific branch, you can go there directly by utilizing the “Go to Branch Name” function, but you must enter the haplogroup in front of the branch name. R-BY490 for example.

When you’re finished with this search, REMOVE THE BRANCH NAME from the search box, if you’re going to do any other searches, or the system thinks you’re searching within that branch name.

My Result Isn’t Showing

In order for your results to be included on the tree, you must have fulfilled all 3 of these criteria:

  • Taken either a SNP or Big Y test
  • Opted in for public sharing
  • More than one result for that branch with the same exact surname

If you think your results should be showing and they aren’t, check your privacy settings by clicking the orange “Manage Personal Information” under your profile picture on your main page, then on the Privacy and Sharing tab.

Still not showing? See if you match another male of the same surname on the Big Y or SNP test at the same level.

If your surname isn’t included, you can recruit testers from that branch of your family.

How Can I Use This?

I’m like a kid with a new toy.

If any of your family surnames are rather unique, search to see if they are on the tree.

Hey look, my Vannoy line is on haplogroup I! Hmmm, clear the schedule, I’m going to be busy all day!

Every haplogroup has a story – and that story belongs to the men, and their families, who carry that haplogroup! I gather the haplogroups for each of my family surnames and this public tree just made this task much, MUCH easier.

Discovering More

If the testers have joined the appropriate surname project, you may also be able to find them in that project to see if they descend from a common line with you. To check and see, click here and then scroll down to the “Search Surname” section of the main Family Tree DNA webpage and enter the surname.

You can see if there is a project for your surname, and if not, your surname may be included in other projects.

Click on any of those links to view the project or contact the (volunteer) project administrators.

Want to search for another surname, the project search box is shown at the right in this view.

What gems can you find?

Want to Test?

If you are a male and you want to take the Big Y test or order a haplogroup confirming SNP, or you are a female who would like to sponsor a test for a male with a surname you’re interested in, you can purchase the Big Y test, here. As a bonus, you will also receive all of the STR markers for genealogical comparison as well.

Wonder what you can learn? You will be searching for matches to other males with the same surname. You can learn about your history. Confirm your ancestral line. Learn where they came from. You can help the scientific effort and contribute to the tree. For more information, read the article, Working with Y DNA – Your Dad’s Story.

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

 

 

 

 

Mitochondrial DNA Build 17 Update at Family Tree DNA

I knew the mitochondrial DNA update at Family Tree DNA was coming, I just didn’t know when. The “when” was earlier this week.

Take a look at your mitochondrial DNA haplogroup – it maybe different!

Today, this announcement arrived from Family Tree DNA.

We’re excited to announce the release of mtDNA Build 17, the most up-to-date scientific understanding of the human genome, haplogroups and branches of the mitochondrial DNA haplotree.

As a result of these updates and enhancements—the most advanced available for tracing your direct maternal lineage—some customers may see a change to their existing mtDNA haplogroup. This simply means that in applying the latest research, we are able to further refine your mtDNA haplogroup designation, giving you even more anthropological insight into your maternal genetic ancestry.

With the world’s largest mtDNA database, your mitochondrial DNA is of great value in expanding the overall knowledge of each maternal branch’s history and origins. So take your maternal genetic ancestry a step further—sign in to your account now and discover what’s new in your mtDNA!

This is great news. It means that your haplogroup designation is the most up to date according to Phylotree.

I’d like to take this opportunity to answer a few questions that you might have.

What is Phylotree?

Phylotree is, in essence, the mitochondrial tree of humanity. It tracks the mutations that formed the various mutations from “Mitochondrial Eve,” the original ancestor of all females living today, forward in time…to you.

You can view the Phylotree here.

For example, if your haplogroup is J1c2f, for example, on Phylotree, you would click on haplogroup JT, which includes J. You would then scroll down through all the subgroups to find J1c2f. But that’s after your haplgroup is already determined. Phylotree is the reference source that testing companies use to identify the mutations that define haplogroups in order to assign your haplogroup to you.

It’s All About Mutations

For example, J1c2f has the following mutations at each level, meaning that each mutation(s) further defines a subgroup of haplogroup J.

As you can see, each mutation(s) further refines the haplogroup from J through J1c2f. In other words, if the person didn’t have the mutation G9055A, they would not be J1c2f, but would only be J1c2. If new clusters are discovered in future versions of Phylotree, then someday this person might be J1c2f3z.

Family Tree DNA provides an easy reference mutations chart here.

What is Build 17?

Research in mitochondrial DNA is ongoing. As additional people test, it becomes clear that new subgroups need to be identified, and in some cases, entire groups are moved to different branches of the tree. For example, if you were previously haplogroup A4a, you are now A1, and if you were previously A4a1 you are now A1a.

Build 17 was released in February of 2016. The previous version, Build 16, was released in February 2014 and Build 15 in September of 2012. Prior to that, there were often multiple releases per year, beginning in 2008.

Vendors and Haplogroups

Unfortunately, because some haplogroups are split, meaning they were previously a single haplogroup that now has multiple branches, a haplogroup update is not simply changing the name of the haplogroup. Some people that were previously all one haplogroup are now members of three different descendant haplogroups. I’m using haplogroup Z6 as an example, because it doesn’t exist, and I don’t want to confuse anyone.

Obviously, the vendors can’t just change Z6 to Z6a, because people that were previously Z6 might still be Z6 or might be Z6a, Z6b or Z6c.

Each vendor that provides haplogroups to clients has to rerun their entire data base, so a mitochondrial DNA haplogroup update is not a trivial undertaking and requires a lot of planning.

For those of you who also work with Y DNA, this is exactly why the Y haplotree went from haplogroup names like R1b1c to R-M269, where the terminal SNP, or mutation furthest down the tree (that the participant has tested for) is what defines the haplogroup.

If that same approach were applied to mitochondrial DNA, then J1c2f would be known as J-G9055A or maybe J-9055.

Why Version Matters

When comparing haplogroups between people who tested at various vendors, it’s important to understand that they may not be the same. For example, 23andMe, who reports a haplogroup prediction based not on full sequence testing, but on a group of probes, is still using Phylotree Build 12 from 2011.

Probe based vendors can update their client’s haplogroup to some extent, based on the probes they use which test only specific locations, but they cannot fully refine a haplogroup based on new locations, because their probes never tested those locations. They weren’t known to be haplogroup defining at the time their probes were designed. Even if they redefine their probes, they would have to rerun the actual tests of all of their clients on the new test platform with the new probes.

Full sequence testing at Family Tree DNA eliminates that problem, because they test the entire mitochondria at every location.

Therefore, it’s important to be familiar with your haplogroup, because you might match someone it doesn’t appear that you match. For example, our haplogroup A4a=A1 example. At 23andMe the person would still be A4a but at Family Tree DNA they would be A1.

If you utilize MitoSearch or if you are looking at mtDNA haplogroups recorded in GedMatch, for example, be aware of the source of the information. If you are utilizing other vendors who provide haplogroup estimates, ask which Phylotree build they are using so you know what to expect and how to compare.

Knowing the history of your haplogroup’s naming will allow you to better evaluate haplogroups found outside of Family Tree DNA matchs.

Build History

You can view the Phylotree Update History at this link, but Built 17 information is not yet available. However, since Family Tree DNA went from Built 14 to Build 17, and other vendors are further behind, the information here is still quite relevant.

Growth

If you’re wondering how much the tree grew, Build 14 defined 3550 haplogroups and Built 17 identified 5437. Build 14 utilized and analyzed 8,216 modern mitochondrial sequences, reflected in the 2012 Copernicus paper by Behar et al. Build 17 utilized 24,275 mitochondrial sequences. I certainly hope that the authors will update the Copernicus paper to reflect Build 17. Individuals utilizing the Copernicus paper for haplogroup aging today will have to be cognizant of the difference in haplogroup names.

Matching

If your haplogroup changed, or the haplogroup of any of your matches, your matches may change. Family Tree DNA utilizes something called SmartMatching which means that they will not show you as a match to someone who has taken the full sequence test and is not a member of your exact haplogroup. In other words, they will not show a haplogroup J1c2 as a match to a J1c2f, because their common ancestors are separated by thousands of years.

However, if someone has only tested at the HVR1 or HVR1+HVR2 (current mtDNA Plus test) levels and is predicted to be haplogroup J or J1, and they match you exactly on the locations in the regions where you both tested, then you will be shown as a match. If they upgrade and are discovered to be a different haplogroup, then you will no longer be shown as a match at any level.

Genographic Project

If you tested with the Genographic Project prior to November of 2016, your haplogroup may be different than the Family Tree DNA haplogroup. Family Tree DNA provided the following information:

The differences can be caused by the level of testing done, which phase of the Genographic project that you tested, and when.

  • Geno 1 tested all of HVR1.
  • Geno 2 tested a selection of SNPs across the mitochondrial genome to give a more refined haplogroup using Build 14.
  • Geno 2+ used an updated selection of SNPs across the mitochondrial genome using Build 16.

If you have HVR1 either transferred from the Genographic Project or from the FTDNA product mtDNA, you will have a basic, upper-level haplogroup.

If you tested mtDNA Plus with FTDNA, which is HVR1 + HVR2, you will have a basic, upper-level haplogroup.

If you tested the Full Mitochondrial Sequence with Family Tree DNA, your haplogroup will reflect the full Build 17 haplogroup, which may be different from either the Geno 2 or Geno 2+ haplogroup because of the number and selection of SNPs tested in the Genographic Project, or because of the build difference between Geno 2+ and FTDNA.

Thank You

I want to say a special thank you to Family Tree DNA.

I know that there is a lot of chatter about the cost of mitochondrial DNA testing as compared to autosomal, which is probe testing. It’s difficult for a vendor to maintain a higher quality, more refined product when competing against a lower cost competitor that appears, at first glance, to give the same thing for less money. The key of course is that it’s not really the same thing.

The higher cost is reflective of the fact that the full sequence mitochondrial test uses different technology to test all of the 16,569 mitochondrial DNA locations individually to determine whether the expected reference value is found, a mutation, a deletion or an insertion of other DNA.

Because Family Tree DNA tests every location individually, when new haplogroups are defined, your mitochondrial DNA haplogroup can be updated to reflect any new haplogroup definition, based on any of those 16,569 locations, or combinations of locations. Probe testing in conjunction with autosomal DNA testing can’t do this because the nature of probe testing is to test only specific locations for a value, meaning that probe tests test only known haplogroup defining locations at the time the probe test was designed.

So, thank you, Family Tree DNA, for continuing to test the full mitochondrial sequence, thank you for the updated Build 17 for refined haplogroups, and thank you for answering additional questions about the update.

Testing

If you haven’t yet tested your mitochondrial DNA at the full sequence level, now’s a great time!

If you have tested at the HVR1 or the HVR1+HVR2 levels, you can upgrade to the full sequence test directly from your account. For the next week, upgrades are only $99.

There are two mtDNA tests available today, the mtPlus which only tests through the HVR1+HVR2 level, or about 7% of your mitochondrial DNA locations, or the mtFull Sequence that tests your entire mitochondria, all 16,569 locations.

Click here to order or upgrade.

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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