FamilyTreeDNA 2023 Update – Past, Present and Future

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

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

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

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

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

Past, Present, and Future with Katy Rowe-Schurwanz

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

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

Recent Milestones

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

Acquisition and Wellness Bundles

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

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

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

New TIP (Time Prediction) STR Report

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

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

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

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

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

MyOrigins3

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

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

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

Additional Releases

Additional products and features released since the last conference include:

Discover

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

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

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

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

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

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

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

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

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

Earliest Known Ancestor (EKA) Improvement

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

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

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

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

Recommended Projects on Haplogroups & SNPs Page

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

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

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

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

Abandoned Projects

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

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

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

New Kit Manager Feature

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

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

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

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

Beneficiary Page

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

What is FamilyTreeDNA working on now?

Currently in the Works

Katy moved on to what’s currently underway.

Privacy and Security

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

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

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

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

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

Why is this necessary?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

New Permissions

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

  • Download data
  • Purchase tests

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

Family Finder Haplogroups

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

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

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

Please read this article for more information.

New Discover Tools and Updates

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

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

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

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

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

Big Y FaceBook Group

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

FamilyTreeDNA Blog

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

Multi-Language Support

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

Paypal, Payments, and Gift Cards

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

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

Million Mito Project & Mitotree

Work on the Million Mito Project is ongoing.

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

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

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

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

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

This is SOOO exciting!!!

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

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

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

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

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

The Future

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

Privacy Laws

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

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

New Kits Opted Out of IGG

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

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

Biobanking Separate Consent

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

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

MyHeritage Tree Integration

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

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

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

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

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

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

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

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

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

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

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

Big Y Infrastructure

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

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

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

Wishlist

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

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

Which items do you want to see most?

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

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

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

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

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

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

Suggestions Welcomed

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

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

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

Lab Update

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

A lab update has become a tradition over the years.

Linda Jones, Lab Manager, provided a lab update.

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

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

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

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

Q&A and Thank You

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

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

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

_____________________________________________________________

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Y DNA Resources and Repository

I’ve created a Y DNA resource page with the information in this article, here, as a permanent location where you can find Y DNA information in one place – including:

  • Step-by-step guides about how to utilize Y DNA for your genealogy
  • Educational articles and links to the latest webinars
  • Articles about the science behind Y DNA
  • Ancient DNA
  • Success stories

Please feel free to share this resource or any of the links to individual articles with friends, genealogy groups, or on social media.

If you haven’t already taken a Y DNA test, and you’re a male (only males have a Y chromosome,) you can order one here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

What is Y DNA?

Y DNA is passed directly from fathers to their sons, as illustrated by the blue arrow, above. Daughters do not inherit the Y chromosome. The Y chromosome is what makes males, male.

Every son receives a Y chromosome from his father, who received it from his father, and so forth, on up the direct patrilineal line.

Comparatively, mitochondrial DNA, the pink arrow, is received by both sexes of children from the mother through the direct matrilineal line.

Autosomal DNA, the green arrow, is a combination of randomly inherited DNA from many ancestors that is inherited by both sexes of children from both parents. This article explains a bit more.

Y DNA has Unique Properties

The Y chromosome is never admixed with DNA from the mother, so the Y chromosome that the son receives is identical to the father’s Y chromosome except for occasional minor mutations that take place every few generations.

This lack of mixture with the mother’s DNA plus the occasional mutation is what makes the Y chromosome similar enough to match against other men from the same ancestors for hundreds or thousands of years back in time, and different enough to be useful for genealogy. The mutations can be tracked within extended families.

In western cultures, the Y chromosome path of inheritance is usually the same as the surname, which means that the Y chromosome is uniquely positioned to identify the direct biological patrilineal lineage of males.

Two different types of Y DNA tests can be ordered that work together to refine Y DNA results and connect testers to other men with common ancestors.

FamilyTreeDNA provides STR tests with their 37, 67 and 111 marker test panels, and comprehensive STR plus SNP testing with their Big Y-700 test.

click to enlarge

STR markers are used for genealogy matching, while SNP markers work with STR markers to refine genealogy further, plus provide a detailed haplogroup.

Think of a haplogroup as a genetic clan that tells you which genetic family group you belong to – both today and historically, before the advent of surnames.

This article, What is a Haplogroup? explains the basic concept of how haplogroups are determined.

In addition to the Y DNA test itself, Family Tree DNA provides matching to other testers in their database plus a group of comprehensive tools, shown on the dashboard above, to help testers utilize their results to their fullest potential.

You can order or upgrade a Y DNA test, here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

Step-by-Step – Using Your Y DNA Results

Let’s take a look at all of the features, functions, and tools that are available on your FamilyTreeDNA personal page.

What do those words mean? Here you go!

Come along while I step through evaluating Big Y test results.

Big Y Testing and Results

Why would you want to take a Big Y test and how can it help you?

While the Big Y-500 has been superseded by the Big Y-700 test today, you will still be interested in some of the underlying technology. STR matching still works the same way.

The Big Y-500 provided more than 500 STR markers and the Big Y-700 provides more than 700 – both significantly more than the 111 panel. The only way to receive these additional markers is by purchasing the Big Y test.

I have to tell you – I was skeptical when the Big Y-700 was introduced as the next step above the Big Y-500. I almost didn’t upgrade any kits – but I’m so very glad that I did. I’m not skeptical anymore.

This Y DNA tree rocks. A new visual format with your matches listed on their branches. Take a look!

Educational Articles

I’ve been writing about DNA for years and have selected several articles that you may find useful.

What kinds of information are available if you take a Y DNA test, and how can you use it for genealogy?

What if your father isn’t available to take a DNA test? How can you determine who else to test that will reveal your father’s Y DNA information?

Family Tree DNA shows the difference in the number of mutations between two men as “genetic distance.” Learn what that means and how it’s figured in this article.

Of course, there were changes right after I published the original Genetic Distance article. The only guarantees in life are death, taxes, and that something will change immediately after you publish.

Sometimes when we take DNA tests, or others do, we discover the unexpected. That’s always a possibility. Here’s the story of my brother who wasn’t my biological brother. If you’d like to read more about Dave’s story, type “Dear Dave” into the search box on my blog. Read the articles in publication order, and not without a box of Kleenex.

Often, what surprise matches mean is that you need to dig further.

The words paternal and patrilineal aren’t the same thing. Paternal refers to the paternal half of your family, where patrilineal is the direct father to father line.

Just because you don’t have any surname matches doesn’t necessarily mean it’s because of what you’re thinking.

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) aren’t the same thing and are used differently in genealogy.

Piecing together your ancestor’s Y DNA from descendants.

Haplogroups are something like our pedigree charts.

What does it mean when you have a zero for a marker value?

There’s more than one way to break down that brick wall. Here’s how I figured out which of 4 sons was my ancestor.

Just because you match the right line autosomally doesn’t mean it’s because you descend from the male child you think is your ancestor. Females gave their surnames to children born outside of a legal marriage which can lead to massive confusion. This is absolutely why you need to test the Y DNA of every single ancestral line.

When the direct patrilineal line isn’t the line you’re expecting.

You can now tell by looking at the flags on the haplotree where other people’s ancestral lines on your branch are from. This is especially useful if you’ve taken the Big Y test and can tell you if you’re hunting in the right location.

If you’re just now testing or tested in 2018 or after, you don’t need to read this article unless you’re interested in the improvements to the Big Y test over the years.

2019 was a banner year for discovery. 2020 was even more so, keeping up an amazing pace. I need to write a 2020 update article.

What is a terminal SNP? Hint – it’s not fatal😊

How the TIP calculator works and how to best interpret the results. Note that this tool is due for an update that incorporates more markers and SNP results too.

You can view the location of the Y DNA and mitochondrial DNA ancestors of people whose ethnicity you match.

Tools and Techniques

This free public tree is amazing, showing locations of each haplogroup and totals by haplogroup and country, including downstream branches.

Need to search for and find Y DNA candidates when you don’t know anyone from that line? Here’s how.

Yes, it’s still possible to resolve this issue using autosomal DNA. Non-matching Y DNA isn’t the end of the road, just a fork.

Science Meets Genealogy – Including Ancient DNA

Haplogroup C was an unexpected find in the Americas and reaches into South America.

Haplogroup C is found in several North American tribes.

Haplogroup C is found as far east as Nova Scotia.

Test by test, we made progress.

New testers, new branches. The research continues.

The discovery of haplogroup A00 was truly amazing when it occurred – the base of the phylotree in Africa.

The press release about the discovery of haplogroup A00.

In 2018, a living branch of A00 was discovered in Africa, and in 2020, an ancient DNA branch.

Did you know that haplogroups weren’t always known by their SNP names?

This brought the total of SNPs discovered by Family Tree DNA in mid-2018 to 153,000. I should contact the Research Center to see how many they have named at the end of 2020.

An academic paper split ancient haplogroup D, but then the phylogenetic research team at FamilyTreeDNA split it twice more! This might not sound exciting until you realize this redefines what we know about early man, in Africa and as he emerged from Africa.

Ancient DNA splits haplogroup P after analyzing the remains of two Jehai people from West Malaysia.

For years I doubted Kennewick Man’s DNA would ever be sequenced, but it finally was. Kennewick Man’s mitochondrial DNA haplogroup is X2a and his Y DNA was confirmed to Q-M3 in 2015.

Compare your own DNA to Vikings!

Twenty-seven Icelandic Viking skeletons tell a very interesting story.

Irish ancestors? Check your DNA and see if you match.

Ancestors from Hungary or Italy? Take a look. These remains have matches to people in various places throughout Europe.

The Y DNA story is no place near finished. Dr. Miguel Vilar, former Lead Scientist for National Geographic’s Genographic Project provides additional analysis and adds a theory.

Webinars

Y DNA Webinar at Legacy Family Tree Webinars – a 90-minute webinar for those who prefer watching to learn! It’s not free, but you can subscribe here.

Success Stories and Genealogy Discoveries

Almost everyone has their own Y DNA story of discovery. Because the Y DNA follows the surname line, Y DNA testing often helps push those lines back a generation, or two, or four. When STR markers fail to be enough, we can turn to the Big Y-700 test which provides SNP markers down to the very tip of the leaves in the Y DNA tree. Often, but not always, family-defining SNP branches will occur which are much more stable and reliable than STR mutations – although SNPs and STRs should be used together.

Methodologies to find ancestral lines to test, or maybe descendants who have already tested.

DNA testing reveals an unexpected mystery several hundred years old.

When I write each of my “52 Ancestor” stories, I include genetic information, for the ancestor and their descendants, when I can. Jacob was special because, in addition to being able to identify his autosomal DNA, his Y DNA matches the ancient DNA of the Yamnaya people. You can read about his Y DNA story in Jakob Lenz (1748-1821), Vinedresser.

Please feel free to add your success stories in the comments.

What About You?

You never know what you’re going to discover when you test your Y DNA. If you’re a female, you’ll need to find a male that descends from the line you want to test via all males to take the Y DNA test on your behalf. Of course, if you want to test your father’s line, your father, or a brother through that father, or your uncle, your father’s brother, would be good candidates.

What will you be able to discover? Who will the earliest known ancestor with that same surname be among your matches? Will you be able to break down a long-standing brick wall? You’ll never know if you don’t test.

You can click here to upgrade an existing test or order a Y DNA test.

Share the Love

You can always forward these articles to friends or share by posting links on social media. Who do you know that might be interested?

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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

Books

Y DNA: Step-by-Step Big Y Analysis

Many males take the Big Y-700 test offered by FamilyTreeDNA, so named because testers receive the most granular haplogroup SNP results in addition to 700+ included STR marker results. If you’re not familiar with those terms, you might enjoy the article, STRs vs SNPs, Multiple DNA Personalities.

The Big Y test gives testers the best of both, along with contributing to the building of the Y phylotree. You can read about the additions to the Y tree via the Big Y, plus how it helped my own Estes project, here.

Some men order this test of their own volition, some at the request of a family member, and some in response to project administrators who are studying a specific topic – like a particular surname.

The Big Y-700 test is the most complete Y DNA test offered, testing millions of locations on the Y chromosome to reveal mutations, some unique and never before discovered, many of which are useful to genealogists. The Big Y-700 includes the traditional Y DNA STR marker testing along with SNP results that define haplogroups. Translated, both types of test results are compared to other men for genealogy, which is the primary goal of DNA testing.

Being a female, I often recruit males in my family surname lines and sponsor testing. My McNiel line, historic haplogroup R-M222, has been particularly frustrating both genealogically as well as genetically after hitting a brick wall in the 1700s. My McNeill cousin agreed to take a Big Y test, and this analysis walks through the process of understanding what those results are revealing.

After my McNeill cousin’s Big Y results came back from the lab, I spent a significant amount of time turning over every leaf to extract as much information as possible, both from the Big Y-700 DNA test itself and as part of a broader set of intertwined genetic information and genealogical evidence.

I invite you along on this journey as I explain the questions we hoped to answer and then evaluate Big Y DNA results along with other information to shed light on those quandaries.

I will warn you, this article is long because it’s a step-by-step instruction manual for you to follow when interpreting your own Big Y results. I’d suggest you simply read this article the first time to get a feel for the landscape, before working through the process with your own results. There’s so much available that most people leave laying on the table because they don’t understand how to extract the full potential of these test results.

If you’d like to read more about the Big Y-700 test, the FamilyTreeDNA white paper is here, and I wrote about the Big Y-700 when it was introduced, here.

You can read an overview of Y DNA, here, and Y DNA: The Dictionary of DNA, here.

Ok, get yourself a cuppa joe, settle in, and let’s go!

George and Thomas McNiel – Who Were They?

George and Thomas McNiel appear together in Spotsylvania County, Virginia records. Y DNA results, in combination with early records, suggest that these two men were brothers.

I wrote about discovering that Thomas McNeil’s descendant had taken a Y DNA test and matched George’s descendants, here, and about my ancestor George McNiel, here.

McNiel family history in Wilkes County, NC, recorded in a letter written in 1898 by George McNiel’s grandson tells us that George McNiel, born about 1720, came from Scotland with his two brothers, John and Thomas. Elsewhere, it was reported that the McNiel brothers sailed from Glasgow, Scotland and that George had been educated at the University of Edinburgh for the Presbyterian ministry but had a change of religious conviction during the voyage. As a result, a theological tiff developed that split the brothers.

George, eventually, if not immediately, became a Baptist preacher. His origins remain uncertain.

The brothers reportedly arrived about 1750 in Maryland, although I have no confirmation. By 1754, Thomas McNeil appeared in the Spotsylvania County, VA records with a male being apprenticed to him as a tailor. In 1757, in Spotsylvania County, the first record of George McNeil showed James Pey being apprenticed to learn the occupation of tailor.

If George and Thomas were indeed tailors, that’s not generally a country occupation and would imply that they both apprenticed as such when they were growing up, wherever that was.

Thomas McNeil is recorded in one Spotsylvania deed as being from King and Queen County, VA. If this is the case, and George and Thomas McNiel lived in King and Queen, at least for a time, this would explain the lack of early records, as King and Queen is a thrice-burned county. If there was a third brother, John, I find no record of him.

My now-deceased cousin, George McNiel, initially tested for the McNiel Y DNA and also functioned for decades as the family historian. George, along with his wife, inventoried the many cemeteries of Wilkes County, NC.

George believed through oral history that the family descended from the McNiel’s of Barra.

McNiel Big Y Kisumul

George had this lovely framed print of Kisimul Castle, seat of the McNiel Clan on the Isle of Barra, proudly displayed on his wall.

That myth was dispelled with the initial DNA testing when our line did not match the Barra line, as can be seen in the MacNeil DNA project, much to George’s disappointment. As George himself said, the McNiel history is both mysterious and contradictory. Amen to that, George!

McNiel Big Y Niall 9 Hostages

However, in place of that history, we were instead awarded the Niall of the 9 Hostages badge, created many years ago based on a 12 marker STR result profile. Additionally, the McNiel DNA was assigned to haplogroup R-M222. Of course, today’s that’s a far upstream haplogroup, but 15+ years ago, we had only a fraction of the testing or knowledge that we do today.

The name McNeil, McNiel, or however you spell it, resembles Niall, so on the surface, this made at least some sense. George was encouraged by the new information, even though he still grieved the loss of Kisimul Castle.

Of course, this also caused us to wonder about the story stating our line had originated in Scotland because Niall of the 9 Hostages lived in Ireland.

Niall of the 9 Hostages

Niall of the 9 Hostages was reportedly a High King of Ireland sometime between the 6th and 10th centuries. However, actual historical records place him living someplace in the mid-late 300s to early 400s, with his death reported in different sources as occurring before 382 and alternatively about 411. The Annals of the Four Masters dates his reign to 379-405, and Foras Feasa ar Eirinn says from 368-395. Activities of his sons are reported between 379 and 405.

In other words, Niall lived in Ireland about 1500-1600 years ago, give or take.

Migration

Generally, migration was primarily from Scotland to Ireland, not the reverse, at least as far as we know in recorded history. Many Scottish families settled in the Ulster Plantation beginning in 1606 in what is now Northern Ireland. The Scots-Irish immigration to the states had begun by 1718. Many Protestant Scottish families immigrated from Ireland carrying the traditional “Mc” names and Presbyterian religion, clearly indicating their Scottish heritage. The Irish were traditionally Catholic. George could have been one of these immigrants.

We have unresolved conflicts between the following pieces of McNeil history:

  • Descended from McNeil’s of Barra – disproved through original Y DNA testing.
  • Immigrated from Glasgow, Scotland, and schooled in the Presbyterian religion in Edinburgh.
  • Descended from the Ui Neill dynasty, an Irish royal family dominating the northern half of Ireland from the 6th to 10th centuries.

Of course, it’s possible that our McNiel/McNeil line could have been descended from the Ui Neill dynasty AND also lived in Scotland before immigrating.

It’s also possible that they immigrated from Ireland, not Scotland.

And finally, it’s possible that the McNeil surname and M222 descent are not related and those two things are independent and happenstance.

A New Y DNA Tester

Since cousin George is, sadly, deceased, we needed a new male Y DNA tester to represent our McNiel line. Fortunately, one such cousin graciously agreed to take the Big Y-700 test so that we might, hopefully, answer numerous questions:

  • Does the McNiel line have a unique haplogroup, and if so, what does it tell us?
  • Does our McNiel line descend from Ireland or Scotland?
  • Where are our closest geographic clusters?
  • What can we tell by tracing our haplogroup back in time?
  • Do any other men match the McNiel haplogroup, and what do we know about their history?
  • Does the Y DNA align with any specific clans, clan history, or prehistory contributing to clans?

With DNA, you don’t know what you don’t know until you test.

Welcome – New Haplogroup

I was excited to see my McNeill cousin’s results arrive. He had graciously allowed me access, so I eagerly took a look.

He had been assigned to haplogroup R-BY18350.

McNiel Big Y branch

Initially, I saw that indeed, six men matched my McNeill cousin, assigned to the same haplogroup. Those surnames were:

  • Scott
  • McCollum
  • Glass
  • McMichael
  • Murphy
  • Campbell

Notice that I said, “were.” That’s right, because shortly after the results were returned, based on markers called private variants, Family Tree DNA assigned a new haplogroup to my McNeill cousin.

Drum roll please!!!

Haplogroup R-BY18332

McNiel Big Y BY18332

Additionally, my cousin’s Big Y test resulted in several branches being split, shown on the Block Tree below.

McNIel Big Y block tree

How cool is this!

This Block Tree graphic shows, visually, that our McNiel line is closest to McCollum and Campbell testers, and is a brother clade to those branches showing to the left and right of our new R-BY18332. It’s worth noting that BY25938 is an equivalent SNP to BY18332, at least today. In the future, perhaps another tester will test, allowing those two branches to be further subdivided.

Furthermore, after the new branches were added, Cousin McNeill has no more Private Variants, which are unnamed SNPs. There were all utilized in naming additional tree branches!

I wrote about the Big Y Block Tree here.

Niall (Or Whoever) Was Prolific

The first thing that became immediately obvious was how successful our progenitor was.

McNiel Big Y M222 project

click to enlarge

In the MacNeil DNA project, 38 men with various surname spellings descend from M222. There are more in the database who haven’t joined the MacNeil project.

Whoever originally carried SNP R-M222, someplace between 2400 and 5900 years ago, according to the block tree, either had many sons who had sons, or his descendants did. One thing is for sure, his line certainly is in no jeopardy of dying out today.

The Haplogroup R-M222 DNA Project, which studies this particular haplogroup, reads like a who’s who of Irish surnames.

Big Y Match Results

Big Y matches must have no more than 30 SNP differences total, including private variants and named SNPs combined. Named SNPs function as haplogroup names. In other words, Cousin McNeill’s terminal SNP, meaning the SNP furthest down on the tree, R-BY18332, is also his haplogroup name.

Private variants are mutations that have occurred in the line being tested, but not yet in other lines. Occurrences of private variants in multiple testers allow the Private Variant to be named and placed on the haplotree.

Of course, Family Tree DNA offers two types of Y DNA testing, STR testing which is the traditional 12, 25, 37, 67 and 111 marker testing panels, and the Big Y-700 test which provides testers with:

  • All 111 STR markers used for matching and comparison
  • Another 589+ STR markers only available through the Big Y test increasing the total STR markers tested from 111 to minimally 700
  • A scan of the Y chromosome, looking for new and known SNPs and STR mutations

Of course, these tests keep on giving, both with matching and in the case of the Big Y – continued haplogroup discovery and refinement in the future as more testers test. The Big Y is an investment as a test that keeps on giving, not just a one-time purchase.

I wrote about the Big Y-700 when it was introduced here and a bit later here.

Let’s see what the results tell us. We’ll start by taking a look at the matches, the first place that most testers begin.

Mcniel Big Y STR menu

Regular Y DNA STR matching shows the results for the STR results through 111 markers. The Big Y section, below, provides results for the Big Y SNPs, Big Y matches and additional STR results above 111 markers.

McNiel Big Y menu

Let’s take a look.

STR and SNP Testing

Of Cousin McNeil’s matches, 2 Big Y testers and several STR testers carry some variant of the Neal, Neel, McNiel, McNeil, O’Neil, etc. surnames by many spellings.

While STR matching is focused primarily on a genealogical timeframe, meaning current to roughly 500-800 years in the past, SNP testing reaches much further back in time.

  • STR matching reaches approximately 500-800 years.
  • Big Y matching reaches approximately 1500 years.
  • SNPs and haplogroups reach back infinitely, and can be tracked historically beyond the genealogical timeframe, shedding light on our ancestors’ migration paths, helping to answer the age-old question of “where did we come from.”

These STR and Big Y time estimates are based on a maximum number of mutations for testers to be considered matches paired with known genealogy.

Big Y results consider two men a match if they have 30 or fewer total SNP differences. Using NGS (next generation sequencing) scan technology, the targeted regions of the Y chromosome are scanned multiple times, although not all regions are equally useful.

Individually tested SNPs are still occasionally available in some cases, but individual SNP testing has generally been eclipsed by the greatly more efficient enriched technology utilized with Big Y testing.

Think of SNP testing as walking up to a specific location and taking a look, while NGS scan technology is a drone flying over the entire region 30-50 times looking multiple times to be sure they see the more distant target accurately.

Multiple scans acquiring the same read in the same location, shown below in the Big Y browser tool by the pink mutations at the red arrow, confirm that NGS sequencing is quite reliable.

McNiel Big Y browser

These two types of tests, STR panels 12-111 and the SNP-based Big Y, are meant to be utilized in combination with each other.

STR markers tend to mutate faster and are less reliable, experiencing frustrating back mutations. SNPs very rarely experience this level of instability. Some regions of the Y chromosome are messier or more complicated than others, causing problems with interpreting reads reliably.

For purposes of clarity, the string of pink A reads above is “not messy,” and “A” is very clearly a mutation because all ~39 scanned reads report the same value of “A,” and according to the legend, all of those scans are high quality. Multiple combined reads of A and G, for example, in the same location, would be tough to call accurately and would be considered unreliable.

You can see examples of a few scattered pink misreads, above.

The two different kinds of tests produce results for overlapping timeframes – with STR mutations generally sifting through closer relationships and SNPs reaching back further in time.

Many more men have taken the Y DNA STR tests over the last 20 years. The Big Y tests have only been available for the past handful of years.

STR testing produces the following matches for my McNiel cousin:

STR Level STR Matches STR Matches Who Took the Big Y % STR Who Took Big Y STR Matches Who Also Match on the Big Y
12 5988 796 13 52
25 6660 725 11 57
37 878 94 11 12
67 1225 252 21 23
111 4 2 50 1

Typically, one would expect that all STR matches that took the Big Y would match on the Big Y, since STR results suggest relationships closer in time, but that’s not the case.

  • Many STR testers who have taken the Big Y seem to be just slightly too distant to be considered a Big Y match using SNPs, which flies in the face of conventional wisdom.
  • However, this could easily be a function of the fact that STRs mutate both backward and forwards and may have simply “happened” to have mutated to a common value – which suggests a closer relationship than actually exists.
  • It could also be that the SNP matching threshold needs to be raised since the enhanced and enriched Big Y-700 technology now finds more mutations than the older Big Y-500. I would like to see SNP matching expanded to 40 from 30 because it seems that clan connections may be being missed. Thirty may have been a great threshold before the more sensitive Big Y-700 test revealed more mutations, which means that people hit that 30 threshold before they did with previous tests.
  • Between the combination of STRs and SNPs mutating at the same time, some Big Y matches are pushed just out of range.

In a nutshell, the correlation I expected to find in terms of matching between STR and Big Y testing is not what I found. Let’s take a look at what we discovered.

It’s worth noting that the analysis is easier if you are working together with at least your closest matches or have access via projects to at least some of their results. You can see common STR values to 111 in projects, such as surname projects. Project administrators can view more if project members have allowed access.

Unexpected Discoveries and Gotchas

While I did expect STR matches to also match on the Big Y, I don’t expect the Big Y matches to necessarily match on the STR tests. After all, the Big Y is testing for more deep-rooted history.

Only one of the McNiel Big Y matches also matches at all levels of STR testing. That’s not surprising since Big Y matching reaches further back in time than STR testing, and indeed, not all STR testers have taken a Big Y test.

Of my McNeill cousin’s closest Big Y matches, we find the following relative to STR matching.

Surname Ancestral Location Big Y Variant/SNP Difference STR Match Level
Scott 1565 in Buccleuch, Selkirkshire, Scotland 20 12, 25, 37, 67
McCollum Not listed 21 67 only
Glass 1618 in Banbridge, County Down, Ireland 23 12, 25, 67
McMichael 1720 County Antrim, Ireland 28 67 only
Murphy Not listed 29 12, 25, 37, 67
Campbell Scotland 30 12, 25, 37, 67, 111

It’s ironic that the man who matches on all STR levels has the most variants, 30 – so many that with 1 more, he would not have been considered a Big Y match at all.

Only the Campbell man matches on all STR panels. Unfortunately, this Campbell male does not match the Clan Campbell line, so that momentary clan connection theory is immediately put to rest.

Block Tree Matches – What They Do, and Don’t, Mean

Note that a Carnes male, the other person who matches my McNeill cousin at 111 STR markers and has taken a Big Y test does not match at the Big Y level. His haplogroup BY69003 is located several branches up the tree, with our common ancestor, R-S588, having lived about 2000 years ago. Interestingly, we do match other R-S588 men.

This is an example where the total number of SNP mutations is greater than 30 for these 2 men (McNeill and Carnes), but not for my McNeill cousin compared with other men on the same S588 branch.

McNiel Big Y BY69003

By searching for Carnes on the block tree, I can view my cousin’s match to Mr. Carnes, even though they don’t match on the Big Y. STR matches who have taken the Big Y test, even if they don’t match at the Big Y level, are shown on the Block Tree on their branch.

By clicking on the haplogroup name, R-BY69003, above, I can then see three categories of information about the matches at that haplogroup level, below.

McNiel Big Y STR differences

click to enlarge

By selecting “Matches,” I can see results under the column, “Big Y.” This does NOT mean that the tester matches either Mr. Carnes or Mr. Riker on the Big Y, but is telling me that there are 14 differences out of 615 STR markers above 111 markers for Mr. Carnes, and 8 of 389 for Mr. Riker.

In other words, this Big Y column is providing STR information, not indicating a Big Y match. You can’t tell one way or another if someone shown on the Block Tree is shown there because they are a Big Y match or because they are an STR match that shares the same haplogroup.

As a cautionary note, your STR matches that have taken the Big Y ARE shown on the block tree, which is a good thing. Just don’t assume that means they are Big Y matches.

The 30 SNP threshold precludes some matches.

My research indicates that the people who match on STRs and carry the same haplogroup, but don’t match at the Big Y level, are every bit as relevant as those who do match on the Big Y.

McNIel Big Y block tree menu

If you’re not vigilant when viewing the block tree, you’ll make the assumption that you match all of the people showing on the Block Tree on the Big Y test since Block Tree appears under the Big Y tools. You have to check Big Y matches specifically to see if you match people shown on the Block Tree. You don’t necessarily match all of them on the Big Y test, and vice versa, of course.

You match Block Tree inhabitants either:

  • On the Big Y, but not the STR panels
  • On the Big Y AND at least one level of STRs between 12 and 111, inclusive
  • On STRs to someone who has taken the Big Y test, but whom you do not match on the Big Y test

Big Y-500 or Big Y-700?

McNiel Big Y STR differences

click to enlarge

Looking at the number of STR markers on the matches page of the Block Tree for BY69003, above, or on the STR Matches page is the only way to determine whether or not your match took the Big Y-700 or the Big Y-500 test.

If you add 111 to the Big Y SNP number of 615 for Mr. Carnes, the total equals 726, which is more than 700, so you know he took the Big Y-700.

If you add 111 to 389 for Mr. Riker, you get 500, which is less than 700, so you know that he took the Big Y-500 and not the Big Y-700.

There are still a very small number of men in the database who did not upgrade to 111 when they ordered their original Big Y test, but generally, this calculation methodology will work. Today, all Big Y tests are upgraded to 111 markers if they have not already tested at that level.

Why does Big Y-500 vs Big Y-700 matter? The enriched chemistry behind the testing technology improved significantly with the Big Y-700 test, enhancing Y-DNA results. I was an avowed skeptic until I saw the results myself after upgrading men in the Estes DNA project. In other words, if Big Y-500 testers upgrade, they will probably have more SNPs in common.

You may want to contact your closest Big Y-500 matches and ask if they will consider upgrading to the Big Y-700 test. For example, if we had close McNiel or similar surname matches, I would do exactly that.

Matching Both the Big Y and STRs – No Single Source

There is no single place or option to view whether or not you match someone BOTH on the Big Y AND STR markers. You can see both match categories individually, of course, but not together.

You can determine if your STR matches took the Big Y, below, and their haplogroup, which is quite useful, but you can’t tell if you match them at the Big Y level on this page.

McNiel Big Y STR match Big Y

click to enlarge

Selecting “Display Only Matches With Big Y” means displaying matches to men who took the Big Y test, not necessarily men you match on the Big Y. Mr. Conley, in the example above, does not match my McNeill cousin on the Big Y but does match him at 12 and 25 STR markers.

I hope FTDNA will add three display options:

  • Select only men that match on the Big Y in the STR panel
  • Add an option for Big Y on the advanced matches page
  • Indicate men who also match on STRs on the Big Y match page

It was cumbersome and frustrating to have to view all of the matches multiple times to compile various pieces of information in a separate spreadsheet.

No Big Y Match Download

There is also no option to download your Big Y matches. With a few matches, this doesn’t matter, but with 119 matches, or more, it does. As more people test, everyone will have more matches. That’s what we all want!

What you can do, however, is to download your STR matches from your match page at levels 12-111 individually, then combine them into one spreadsheet. (It would be nice to be able to download them all at once.)

McNiel Big Y csv

You can then add your Big Y matches manually to the STR spreadsheet, or you can simply create a separate Big Y spreadsheet. That’s what I chose to do after downloading my cousin’s 14,737 rows of STR matches. I told you that R-M222 was prolific! I wasn’t kidding.

This high number of STR matches also perfectly illustrates why the Big Y SNP results were so critical in establishing the backbone relationship structure. Using the two tools together is indispensable.

An additional benefit to downloading STR results is that you can sort the STR spreadsheet columns in surname order. This facilitates easily spotting all spelling variations of McNiel, including words like Niel, Neal and such that might be relevant but that you might not notice otherwise.

Creating a Big Y Spreadsheet

My McNiel cousin has 119 Big Y-700 matches.

I built a spreadsheet with the following columns facilitating sorting in a number of ways, with definitions as follows:

McNiel Big Y spreadsheet

click to enlarge

  • First Name
  • Last Name – You will want to search matches on your personal page at Family Tree DNA by this surname later, so be sure if there is a hyphenated name to enter it completely.
  • Haplogroup – You’ll want to sort by this field.
  • Convergent – A field you’ll complete when doing your analysis. Convergence is the common haplogroup in the tree shared by you and your match. In the case of the green matches above, which are color-coded on my spreadsheet to indicate the closest matches with my McNiel cousin, the convergent haplogroup is BY18350.
  • Common Tree Gen – This column is the generations on the Block Tree shown to this common haplogroup. In the example above, it’s between 9 and 14 SNP generations. I’ll show you where to gather this information.
  • Geographic Location – Can be garnered from 4 sources. No color in that cell indicates that this information came from the Earliest Known Ancestor (EKA) field in the STR matches. Blue indicates that I opened the tree and pulled the location information from that source. Orange means that someone else by the same surname whom the tester also Y DNA matches shows this location. I am very cautious when assigning orange, and it’s risky because it may not be accurate. A fourth source is to use Ancestry, MyHeritage, or another genealogical resource to identify a location if an individual provides genealogical information but no location in the EKA field. Utilizing genealogy databases is only possible if enough information is provided to make a unique identification. John Smith 1700-1750 won’t do it, but Seamus McDougal (1750-1810) married to Nelly Anderson might just work.
  • STR Match – Tells me if the Big Y match also matches on STR markers, and if so, which ones. Only the first 111 markers are used for matching. No STR match generally means the match is further back in time, but there are no hard and fast rules.
  • Big Y Match – My original goal was to combine this information with the STR match spreadsheet. If you don’t wish to combine the two, then you don’t need this column.
  • Tree – An easy way for me to keep track of which matches do and do not have a tree. Please upload or create a tree.

You can also add a spreadsheet column for comments or contact information.

McNiel Big Y profile

You will also want to click your match’s name to display their profile card, paying particular attention to the “About Me” information where people sometimes enter genealogical information. Also, scan the Ancestral Surnames where the match may enter a location for a specific surname.

Private Variants

I added additional spreadsheet columns, not shown above, for Private Variant analysis. That level of analysis is beyond what most people are interested in doing, so I’m only briefly discussing this aspect. You may want to read along, so you at least understand what you are looking at.

Clicking on Private Variants in your Big Y Results shows your variants, or mutations, that are unnamed as SNPs. When they are named, they become SNPs and are placed on the haplotree.

The reference or “normal” state for the DNA allele at that location is shown as the “Reference,” and “Genotype” is the result of the tester. Reference results are not shown for each tester, because the majority are the same. Only mutations are shown.

McNiel Big Y private variants

There are 5 Private Variants, total, for my cousin. I’ve obscured the actual variant numbers and instead typed in 111111 and 222222 for the first two as examples.

McNiel Big Y nonmatching variants

In our example, there are 6 Big Y matches, with matches one and five having the non-matching variants shown above.

Non-matching variants mean that the match, Mr. Scott, in example 1, does NOT match the tester (my cousin) on those variants.

  • If the tester (you) has no mutation, you won’t have a Private Variant shown on your Private Variant page.
  • If the tester does have a Private Variant shown, and that variant shows ON their matches list of non-matching variants, it means the match does NOT match the tester, and either has the normal reference value or a different mutation. Explained another way, if you have a mutation, and that variant is listed on your match list of Non-Matching Variants, your match does NOT match you and does NOT have the same mutation.
  • If the match does NOT have the Private Variant on their list, that means the match DOES match the tester, and they both have the same mutation, making this Private Variant a candidate to be named as a new SNP.
  • If you don’t have a Private Variant listed, but it shows in the Non-Matching Variants of your match, that means you have the reference or normal value, and they have a mutation.

In example #1, above, the tester has a mutation at variant 111111, and 111111 is shown as a Non-Matching Variant to Mr. Scott, so Mr. Scott does NOT match the tester. Mr. Scott also does NOT match the tester at locations 222222 and 444444.

In example #5, 111111 is NOT shown on the Non-Matching Variant list, so Mr. Treacy DOES match the tester.

I have a terrible time wrapping my head around the double negatives, so it’s critical that I make charts.

On the chart below, I’ve listed the tester’s private variants in an individual column each, so 111111, 222222, etc.

For each match, I’ve copy and pasted their Non-Matching Variants in a column to the right of the tester’s variants, in the lavender region. In this example, I’ve typed the example variants into separate columns for each tester so you can see the difference. Remember, a non-matching variant means they do NOT match the tester’s mutation.

McNiel private variants spreadsheet

On my normal spreadsheet where the non-matching variants don’t have individuals columns, I then search for the first variant, 111111. If the variant does appear in the list, it means that match #1 does NOT have the mutation, so I DON’T put an X in the box for match #1 under 111111.

In the example above, the only match that does NOT have 111111 on their list of Non-Matching Variants is #5, so an X IS placed in that corresponding cell. I’ve highlighted that column in yellow to indicate this is a candidate for a new SNP.

You can see that no one else has the variant, 222222, so it truly is totally private. It’s not highlighted in yellow because it’s not a candidate to be a new SNP.

Everyone shares mutation 333333, so it’s a great candidate to become a new SNP, as is 555555.

Match #6 shares the mutation at 444444, but no one else does.

This is a manual illustration of an automated process that occurs at Family Tree DNA. After Big Y matches are returned, automated software creates private variant lists of potential new haplogroups that are then reviewed internally where SNPs are evaluated, named, and placed on the tree if appropriate.

If you follow this process and discover matches, you probably don’t need to do anything, as the automated review process will likely catch up within a few days to weeks.

Big Y Matches

In the case of the McNiel line, it was exciting to discover several private variants, mutations that were not yet named SNPs, found in several matches that were candidates to be named as SNPs and placed on the Y haplotree.

Sure enough, a few days later, my McNeill cousin had a new haplogroup assignment.

Most people have at least one Private Variant, locations in which they do NOT match another tester. When several people have these same mutations, and they are high-quality reads, the Private Variant qualifies to be added to the haplotree as a SNP, a task performed at FamilyTreeDNA by Michael Sager.

If you ever have the opportunity to hear Michael speak, please do so. You can watch Michael’s presentation at Genetic Genealogy Ireland (GGI) titled “The Tree of Mankind,” on YouTube, here, compliments of Maurice Gleeson who coordinates GGI. Maurice has also written about the Gleeson Y DNA project analysis, here.

As a result of Cousin McNeill’s test, six new SNPs have been added to the Y haplotree, the tree of mankind. You can see our new haplogroup for our branch, BY18332, with an equivalent SNP, BY25938, along with three sibling branches to the left and right on the tree.

McNiel Big Y block tree 4 branch

Big Y testing not only answers genealogical questions, it advances science by building out the tree of mankind too.

The surname of the men who share the same haplogroup, R-BY18332, meaning the named SNP furthest down the tree, are McCollum and Campbell. Not what I expected. I expected to find a McNeil who does match on at least some STR markers. This is exactly why the Big Y is so critical to define the tree structure, then use STR matches to flesh it out.

Taking the Big Y-700 test provided granularity between 6 matches, shown above, who were all initially assigned to the same branch of the tree, BY18350, but were subsequently divided into 4 separate branches. My McNiel cousin is no longer equally as distant from all 6 men. We now know that our McNiel line is genetically closer on the Y chromosome to Campbell and McCollum and further distant from Murphy, Scott, McMichael, and Glass.

Not All SNP Matches are STR Matches

Not all SNP matches are also STR matches. Some relationships are too far back in time. However, in this case, while each person on the BY18350 branches matches at some STR level, only the Campbell individual matches at all STR levels.

Remember that variants (mutations) are accumulating down both respective branches of the tree at the same time, meaning one per roughly every 100 years (if 100 is the average number we want to use) for both testers. A total of 30 variants or mutations difference, an average of 15 on each branch of the tree (McNiel and their match) would suggest a common ancestor about 1500 years ago, so each Big Y match should have a common ancestor 1500 years ago or closer. At least on average, in theory.

The Big Y test match threshold is 30 variants, so if there were any more mismatches with the Campbell male, they would not have been a Big Y match, even though they have the exact same haplogroup.

Having the same haplogroup means that their terminal SNP is identical, the SNP furthest down the tree today, at least until someone matches one of them on their Private Variants (if any remain unnamed) and a new terminal SNP is assigned to one or both of them.

Mutations, and when they happen, are truly a roll of the dice. This is why viewing all of your Big Y Block Tree matches is critical, even if they don’t show on your Big Y match list. One more variant and Campbell would have not been shown as a match, yet he is actually quite close, on the same branch, and matches on all STR panels as well.

SNPs Establish the Backbone Structure

I always view the block tree first to provide a branching tree structure, then incorporate STR matches into the equation. Both can equally as important to genealogy, but haplogroup assignment is the most accurate tool, regardless of whether the two individuals match on the Big Y test, especially if the haplogroups are relatively close.

Let’s work with the Block Tree.

The Block Tree

McNIel Big Y block tree menu

Clicking on the link to the Block Tree in the Big Y results immediately displays the tester’s branch on the tree, below.

click to enlarge

On the left side are SNP generation markers. Keep in mind that approximate SNP generations are marked every 5 generations. The most recent generations are based on the number of private variants that have not yet been assigned as branches on the tree. It’s possible that when they are assigned that they will be placed upstream someplace, meaning that placement will reduce the number of early branches and perhaps increase the number of older branches.

The common haplogroup of all of the branches shown here with the upper red arrow is R-BY3344, about 15 SNP generations ago. If you’re using 100 years per SNP generation, that’s about 1500 years. If you’re using 80 years, then 1200 years ago. Some people use even fewer years for calculations.

If some of the private variants in the closer branches disappear, then the common ancestral branch may shift to closer in time.

This tree will always be approximate because some branches can never be detected. They have disappeared entirely over time when no males exist to reproduce.

Conversely, subclades have been born since a common ancestor clade whose descendants haven’t yet tested. As more people test, more clades will be discovered.

Therefore, most recent common ancestor (MRCA) haplogroup ages can only be estimated, based on who has tested and what we know today. The tree branches also vary depending on whether testers have taken the Big Y-500 or the more sensitive Big Y-700, which detects more variants. The Y haplotree is a combination of both.

Big Y-500 results will not be as granular and potentially do not position test-takers as far down the tree as Big Y-700 results would if they upgraded. You’ll need to factor that into your analysis if you’re drawing genealogical conclusions based on these results, especially close results.

You’ll note that the direct path of descent is shown above with arrows from BY3344 through the first blue box with 5 equivalent SNPS, to the next white box, our branch, with two equivalent SNPs. Our McNeil ancestor, the McCollum tester, and the Campell tester have no unresolved private variants between them, which suggests they are probably closer in time than 10 generations back. You can see that the SNP generations are pushed “up” by the neighbor variants.

Because of the fact that private variants don’t occur on a clock cycle and occur in individual lines at an unsteady rate, we must use averages.

That means that when we look further “up” the tree, clicking generation by generation on the up arrow above BY3344, the SNP generations on the left side “adjust” based on what is beneath, and unseen at that level.

The Block Tree Adjusts

Note, in the example above, BY3344 is at SNP generation 15.

Next, I clicked one generation upstream, to R-S668.

McNiel Big Y block tree S668

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You can see that S668 is about 21 SNP generations upstream, and now BY3344 is listed as 20 generations, not 15. You can see our branch, BY3344, but you can no longer see subclades or our matches below that branch in this view.

You can, however, see two matches that descend through S668, brother branches to BY3344, red arrows at far right.

Clicking on the up arrow one more time shows us haplogroup S673, below, and the child branches. The three child branches on which the tester has matches are shown with red arrows.

McNiel Big Y S673

click to enlarge

You’ll immediately notice that now S668 is shown at 19 SNP generations, not 20, and S673 is shown at 20. This SNP generation difference between views is a function of dealing with aggregated and averaged private variants on combined lines and causes the SNP generations to shift. This is also why I always say “about.”

As you continue to click up the tree, the shifting SNP generations continue, reminding us that we can’t truly see back in time. We can only achieve approximations, but those approximations improve as more people test, and more SNPs are named and placed in their proper places on the phylotree.

I love the Block Tree, although I wish I could see further side-to-side, allowing me to view all of the matches on one expanded tree so I can easily see their relationships to the tester, and each other.

Countries and Origins

In addition to displaying shared averaged autosomal origins of testers on a particular branch, if they have taken the Family Finder test and opted-in to sharing origins (ethnicity) results, you can also view the countries indicated by testers on that branch along with downstream branches of the tree.

McNiel Big Y countries

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For example, the Countries tab for S673 is shown above. I can see matches on this branch with no downstream haplogroup currently assigned, as well as cumulative results from downstream branches.

Still, I need to be able to view this information in a more linear format.

The Block Tree and spreadsheet information beautifully augment the haplotree, so let’s take a look.

The Haplotree

On your Y DNA results page, click on the “Haplotree and SNPs” link.

McNIel Big Y haplotree menu

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The Y haplotree will be displayed in pedigree style, quite familiar to genealogists. The SNP legend will be shown at the top of the display. In some cases, “presumed positive” results occur where coverage is lacking, back mutations or read errors are encountered. Presumed positive is based on positive SNPs further down the tree. In other words, that yellow SNP below must read positive or downstream ones wouldn’t.

McNIel Big Y pedigree descent

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The tester’s branch is shown with the grey bar. To the right of the haplogroup-defining SNP are listed the branch and equivalent SNP names. At far right, we see the total equivalent SNPs along with three dots that display the Country Report. I wish the haplotree also showed my matches, or at least my matching surnames, allowing me to click through. It doesn’t, so I have to return to the Big Y page or STR Matches page, or both.

I’ve starred each branch through which my McNiell cousin descends. Sibling branches are shown in grey. As you’ll recall from the Block Tree, we do have matches on those sibling branches, shown side by side with our branch.

The small numbers to the right of the haplogroup names indicate the number of downstream branches. BY18350 has three, all displayed. But looking upstream a bit, we see that DF97 has 135 downstream branches. We also have matches on several of those branches. To show those branches, simply click on the haplogroup.

The challenge for me, with 119 McNeill matches, is that I want to see a combination of the block tree, my spreadsheet information, and the haplotree. The block tree shows the names, my spreadsheet tells me on which branches to look for those matches. Many aren’t easily visible on the block tree because they are downstream on sibling branches.

Here’s where you can find and view different pieces of information.

Data and Sources STR Matches Page Big Y Matches Page Block Tree Haplogroups & SNPs Page
STR matches Yes No, but would like to see who matches at which STR levels If they have taken Big Y test, but doesn’t mean they match on Big Y matching No
SNP matches *1 Shows if STR match has common haplogroup, but not if tester matches on Big Y No, but would like to see who matches at which STR level Big Y matches and STR matches that aren’t Big Y matches are both shown No, but need this feature – see combined haplotree/ block tree
Other Haplogroup Branch Residents Yes, both estimated and tested No, use block tree or click through to profile card, would like to see haplogroup listed for Big Y matches Yes, both Big Y and STR tested, not estimated. Cannot tell if person is Big Y match or STR match, or both. No individuals, but would like that as part of countries report, see combined haplotree/block tree
Fully Expanded Phylotree No No Would like ability to see all branches with whom any Big Y or STR match resides at one time, even if it requires scrolling Yes, but no match information. Matches report could be added like on Block Tree.
Averaged Ethnicities if Have FF Test No No Yes, by haplogroup branch No
Countries Matches map STR only No, need Big Y matches map Yes Yes
Earliest Known Ancestor Yes No, but can click through to profile card No No
Customer Trees Yes No, need this link No No
Profile Card Yes, click through Yes, click through Yes, click through No match info on this page
Downloadable data By STR panel only, would like complete download with 1 click, also if Big Y or FF match Not available at all No No
Path to common haplogroup No No, but would like to see matches haplogroup and convergent haplogroup displayed No, would like the path to convergent haplogroup displayed as an option No, see combined match-block -haplotree in next section

*1 – the best way to see the haplogroup of a Big Y match is to click on their name to view their profile card since haplogroup is not displayed on the Big Y match page. If you happen to also match on STRs, their haplogroup is shown there as well. You can also search for their name using the block tree search function to view their haplogroup.

Necessity being the mother of invention, I created a combined match/block tree/haplotree.

And I really, REALLY hope Family Tree DNA implements something like this because, trust me, this was NOT fun! However, now that it’s done, it is extremely useful. With fewer matches, it should be a breeze.

Here are the steps to create the combined reference tree.

Combo Match/Block/Haplotree

I used Snagit to grab screenshots of the various portions of the haplotree and typed the surnames of the matches in the location of our common convergent haplogroup, taken from the spreadsheet. I also added the SNP generations in red for that haplogroup, at far left, to get some idea of when that common ancestor occurred.

McNIel Big Y combo tree

click to enlarge

This is, in essence, the end-goal of this exercise. There are a few steps to gather data.

Following the path of two matches (the tester and a specific match) you can find their common haplogroup. If your match is shown on the block tree in the same view with your branch, it’s easy to see your common convergent parent haplogroup. If you can’t see the common haplogroup, it’s takes a few extra steps by clicking up the block tree, as illustrated in an earlier section.

We need the ability to click on a match and have a tree display showing both paths to the common haplogroup.

McNiel Big Y convergent

I simulated this functionality in a spreadsheet with my McNiel cousin, a Riley match, and an Ocain match whose terminal SNP is the convergent SNP (M222) between Riley and McNiel. Of course, I’d also like to be able to click to see everyone on one chart on their appropriate branches.

Combining this information onto the haplotree, in the first image, below, M222, 4 men match my McNeill cousin – 2 who show M222 as their terminal SNP, and 2 downstream of M222 on a divergent branch that isn’t our direct branch. In other words, M222 is the convergence point for all 4 men plus my McNeill cousin.

McNiel Big Y M222 haplotree

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In the graphic below, you can see that M222 has a very large number of equivalent SNPs, which will likely become downstream haplogroups at some point in the future. However, today, these equivalent SNPs push M222 from 25 generations to 59. We’ll discuss how this meshes with known history in a minute.

McNiel Big Y M222 block tree

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Two men, Ocain and Ransom, who have both taken the Big Y, whose terminal SNP is M222, match my McNiel cousin. If their common ancestor was actually 59 generations in the past, it’s very, very unlikely that they would match at all given the 30 mutation threshold.

On my reconstructed Match/Block/Haplotree, I included the estimated SNP generations as well. We are starting with the most distant haplogroups and working our way forward in time with the graphics, below.

Make no mistake, there are thousands more men who descend from M222 that have tested, but all of those men except 4 have more than 30 mutations total, so they are not shown as Big Y matches, and they are not shown individually on the Block Tree because they neither match on the Big Y or STR tests. However, there is a way to view information for non-matching men who test positive for M222.

McNiel Big Y M222 countries

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Looking at the Block Tree for M222, many STR match men took a SNP test only to confirm M222, so they would be shown positive for the M222 SNP on STR results and, therefore, in the detailed view of M222 on the Block tree.

Haplogroup information about men who took the M222 test and whom the tester doesn’t match at all are shown here as well in the country and branch totals for R-M222. Their names aren’t displayed because they don’t match the tester on either type of Y DNA test.

Back to constructing my combined tree, I’ve left S658 in both images, above and below, as an overlap placeholder, as we move further down, or towards current, on the haplotree.

McNiel Big Y combo tree center

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Note that BY18350, above, is also an overlap connecting below.

You’ll recall that as a result of the Big Y test, BY18350 was split and now has three child branches plus one person whose terminal SNP is BY18350. All of the men shown below were on one branch until Big Y results revealed that BY18350 needed to be split, with multiple new haplogroups added to the tree.

McNiel Big Y combo tree current

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Using this combination of tools, it’s straightforward for me to see now that our McNiel line is closest to the Campbell tester from Scotland according to the Big Y test + STRs.

Equal according to the Big Y test, but slightly more distant, according to STR matching, is McCollum. The next closest would be sibling branches. Then in the parent group of the other three, BY18350, we find Glass from Scotland.

In BY18350 and subgroups, we find several Scotland locations and one Northern Ireland, which was likely from Scotland initially, given the surname and Ulster Plantation era.

The next upstream parent haplogroup is BY3344, which looks to be weighted towards ancestors from Scotland, shown on the country card, below.

McNiel Big Y BY3344

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This suggests that the origins of the McNiel line was, perhaps, in Scotland, but it doesn’t tell us whether or not George and presumably, Thomas, immigrated from Ireland or Scotland.

This combined tree, with SNPs, surnames from Big Y matches, along with Country information, allows me to see who is really more closely related and who is further away.

What I didn’t do, and probably should, is to add in all of the STR matches who have taken the Big Y test, shown on their convergent branch – but that’s just beyond the scope of time I’m willing to invest, at least for now, given that hundreds of STR matches have taken the Big Y test, and the work of building the combined tree is all manual today.

For those reading this article without access to the Y phylogenetic tree, there’s a public version of the Y and mitochondrial phylotrees available, here.

What About Those McNiels?

No other known McNiel descendants from either Thomas or George have taken the Big Y test, so I didn’t expect any to match, but I am interested in other men by similar surnames. Does ANY other McNiel have a Big Y match?

As it turns out, there are two, plus one STR match who took a Big Y test, but is not a Big Y match.

However, as you can see on the combined match/block/haplotree, above, the closest other Big Y-matching McNeil male is found at about 19 SNP generations, or roughly 1900 years ago. Even if you remove some of the variants in the lower generations that are based on an average number of individual variants, you’re still about 1200 years in the past. It’s extremely doubtful that any surname would survive in both lines from the year 800 or so.

That McNeil tester’s ancestor was born in 1747 in Tranent, Scotland.

The second Big Y-matching person is an O’Neil, a few branches further up in the tree.

The convergent SNP of the two branches, meaning O’Neil and McNeill are at approximately the 21 generation level. The O’Neil man’s Neill ancestor is found in 1843 in Cookestown, County Tyrone, Ireland.

McNiel Big Y convergent McNeil lines

I created a spreadsheet showing convergent lines:

  • The McNeill man with haplogroup A4697 (ancestor Tranent, Scotland) is clearly closest genetically.
  • O’Neill BY91591, who is brother clades with Neel and Neal, all Irish, is another Big Y match.
  • The McNeill man with haplogroup FT91182 is an STR match, but not a Big Y match.

The convergent haplogroup of all of these men is DF105 at about the 22 SNP generation marker.

STRs

Let’s turn back to STR tests, with results that produce matches closer in time.

Searching my STR download spreadsheet for similar surnames, I discovered several surname matches, mining the Earliest Known Ancestor information, profiles and trees produced data as follows:

Ancestor STR Match Level Location
George Charles Neil 12, 25, match on Big Y A4697 1747-1814 Tranent, Scotland
Hugh McNeil 25 (tested at 67) Born 1800 Country Antrim, Northern Ireland
Duncan McNeill 12 (tested at 111) Married 1789, Argyllshire, Scotland
William McNeill 12, 25 (tested at 37) Blackbraes, Stirlingshire, Scotland
William McNiel 25 (tested at 67) Born 1832 Scotland
Patrick McNiel 25 (tested at 111) Trien East, County Roscommon, Ireland
Daniel McNeill 25 (tested at 67) Born 1764 Londonderry, Northern Ireland
McNeil 12 (tested at 67) 1800 Ireland
McNeill (2 matches) 25 (tested Big Y-  SNP FT91182) 1810, Antrim, Northern Ireland
Neal 25 – (tested Big Y, SNP BY146184) Antrim, Northern Ireland
Neel (2 matches) 67 (tested at 111, and Big Y) 1750 Ireland, Northern Ireland

Our best clue that includes a Big Y and STR match is a descendant of George Charles Neil born in Tranent, Scotland, in 1747.

Perhaps our second-best clue comes in the form of a 111 marker match to a descendant of one Thomas McNeil who appears in records as early as 1753 and died in 1761 In Rombout Precinct, Dutchess County, NY where his son John was born. This line and another match at a lower level both reportedly track back to early New Hampshire in the 1600s.

The MacNeil DNA Project tells us the following:

Participant 106370 descends from Isaiah McNeil b. 14 May 1786 Schaghticoke, Rensselaer Co. NY and d. 28 Aug 1855 Poughkeepsie, Dutchess Co., NY, who married Alida VanSchoonhoven.

Isaiah’s parents were John McNeal, baptized 21 Jun 1761 Rombout, Dutchess Co., NY, d. 15 Feb 1820 Stillwater, Saratoga Co., NY and Helena Van De Bogart.

John’s parents were Thomas McNeal, b.c. 1725, d. 14 Aug 1761 NY and Rachel Haff.

Thomas’s parents were John McNeal Jr., b. around 1700, d. 1762 Wallkill, Orange Co., NY (now Ulster Co. formed 1683) and Martha Borland.

John’s parents were John McNeal Sr. and ? From. It appears that John Sr. and his family were this participant’s first generation of Americans.

Searching this line on Ancestry, I discovered additional information that, if accurate, may be relevant. This lineage, if correct, and it may not be, possibly reaching back to Edinburgh, Scotland. While the information gathered from Ancestry trees is certainly not compelling in and of itself, it provides a place to begin research.

Unfortunately, based on matches shown on the MacNeil DNA Project public page, STR marker mutations for kits 30279, B78471 and 417040 when compared to others don’t aid in clustering or indicating which men might be related to this group more closely than others using line-marker mutations.

Matches Map

Let’s take a look at what the STR Matches Map tells us.

McNiel Big Y matches map menu

This 67 marker Matches Map shows the locations of the earliest known ancestors of STR matches who have entered location information.

McNiel Big Y matches mapMcNiel Big Y matches map legend

My McNeill cousin’s closest matches are scattered with no clear cluster pattern.

Unfortunately, there is no corresponding map for Big Y matches.

SNP Map

The SNP map provided under the Y DNA results allows testers to view the locations where specific haplogroups are found.

McNiel Big Y SNP map

The SNP map marks an area where at least two or more people have claimed their most distant known ancestor to be. The cluster size is the maximum amount of miles between people that is allowed in order for a marker indicating a cluster at a location to appear. So for example, the sample size is at least 2 people who have tested, and listed their most distant known ancestor, the cluster is the radius those two people can be found in. So, if you have 10 red dots, that means in 1000 miles there are 10 clusters of at least two people for that particular SNP. Note that these locations do NOT include people who have tested positive for downstream locations, although it does include people who have taken individual SNP tests.

Working my way from the McNiel haplogroup backward in time on the SNP map, neither BY18332 nor BY18350 have enough people who’ve tested, or they didn’t provide a location.

Moving to the next haplogroup up the tree, two clusters are formed for BY3344, shown below.

McNIel Big Y BY3344 map

S668, below.

McNiel Big Y S668 map

It’s interesting that one cluster includes Glasgow.

S673, below.

McNiel Big Y S673 map

DF85, below:

McNiel Big Y DF85 map

DF105 below:

McNiel BIg Y DF105 map

M222, below:

McNiel Big Y M222 map

For R-M222, I’ve cropped the locations beyond Ireland and Scotland. Clearly, RM222 is the most prevalent in Ireland, followed by Scotland. Wherever M222 originated, it has saturated Ireland and spread widely in Scotland as well.

R-M222

R-M222, the SNP initially thought to indicate Niall of the 9 Hostages, occurred roughly 25-59 SNP generations in the past. If this age is even remotely accurate, averaging by 80 years per generation often utilized for Big Y results, produces an age of 2000 – 4720 years. I find it extremely difficult to believe any semblance of a surname survived that long. Even if you reduce the time in the past to the historical narrative, roughly the year 400, 1600 years, I still have a difficult time believing the McNiel surname is a result of being a descendant of Niall of the 9 Hostages directly, although oral history does have staying power, especially in a clan setting where clan membership confers an advantage.

Surname or not, clearly, our line along with the others whom we match on the Big Y do descend from a prolific common ancestor. It’s very unlikely that the mutation occurred in Niall’s generation, and much more likely that other men carried M222 and shared a common ancestor with Niall at some point in the distant past.

McNiel Conclusion – Is There One?

If I had two McNiel wishes, they would be:

  • Finding records someplace in Virginia that connect George and presumably brothers Thomas and John to their parents.
  • A McNiel male from wherever our McNiel line originated becoming inspired to Y DNA test. Finding a male from the homeland might point the way to records in which I could potentially find baptismal records for George about 1720 and Thomas about 1724, along with possibly John, if he existed.

I remain hopeful for a McNiel from Edinburgh, or perhaps Glasgow.

I feel reasonably confident that our line originated genetically in Scotland. That likely precludes Niall of the 9 Hostages as a direct ancestor, but perhaps not. Certainly, one of his descendants could have crossed the channel to Scotland. Or, perhaps, our common ancestor is further back in time. Based on the maps, it’s clear that M222 saturates Ireland and is found widely in Scotland as well.

A great deal depends on the actual age of M222 and where it originated. Certainly, Niall had ancestors too, and the Ui Neill dynasty reaches further back, genetically, than their recorded history in Ireland. Given the density of M222 and spread, it’s very likely that M222 did, in fact, originate in Ireland or, alternatively, very early in Scotland and proliferated in Ireland.

If the Ui Neill dynasty was represented in the persona of the High King, Niall of the 9 Hostages, 1600 years ago, his M222 ancestors were clearly inhabiting Ireland earlier.

We may not be descended from Niall personally, but we are assuredly related to him, sharing a common ancestor sometime back in the prehistory of Ireland and Scotland. That man would sire most of the Irish men today and clearly, many Scots as well.

Our ancestors, whoever they were, were indeed in Ireland millennia ago. R-M222, our ancestor, was the ancestor of the Ui Neill dynasty and of our own Reverend George McNiel.

Our ancestors may have been at Knowth and New Grange, and yes, perhaps even at Tara.

Tara Niall mound in sun

Someplace in the mists of history, one man made a different choice, perhaps paddling across the channel, never to return, resulting in M222 descendants being found in Scotland. His descendants include our McNeil ancestors, who still slumber someplace, awaiting discovery.

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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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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!

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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 Names 100,000 New Y DNA SNPs

Recently, Family Tree DNA named 100,000 new SNPs on the Y DNA haplotree, bringing their total to over 153,000. Given that Family Tree DNA does the majority of the Y DNA NGS “full sequence” testing in the industry with their Big Y product, it’s not at all surprising that they have discovered these new SNPs, currently labeled as “Unnamed Variants” on customers’ Big Y Results pages.

The surprising part was twofold:

Family Tree DNA single-handedly propelled science forward with the introduction of the Big Y test. They likely have performed more NGS Y chromosome tests than the entire rest of the world combined. Assuredly, they have commercially.

Originally, in the early 2000s, a new SNP wasn’t named until there were three independent instances of discovery. That pre-NGS “rule” didn’t take into account three men from the same family line because very few men had been tested at that point in time, let alone multiple men from the same family. This type of testing was originally only done in an academic environment. A caveat was put into place by Family Tree DNA when they started discovering SNPs that the 3 individuals had to be from separate family lines and the SNP in question had to be verified by Sanger sequencing before being considered for name assignment and tree placement. At that time, they were pushing the scientific envelope.

In recent years, that criteria changed to two individuals. With this new development, the SNP is being named with one reliable occurrence, BUT, the SNP still is not being placed on the tree without two high quality occurrences.

Naming the SNPs early while awaiting that second occurrence allows discussion about the validity of that particular finding. Family Tree DNA was not the first to move to this practice.

Some time ago, two other firms began analyzing the BAM files produced by Family Tree DNA for an additional analysis fee. Those firms began naming SNPs before three occurrences had been documented, a practice which has been well-accepted by the genetic genealogy community. Everyone seems to be anxious to see their SNP(s) named and placed on the tree, although there is little consensus or standardization about the criteria to place a SNP on the tree or the line between high, medium and low quality SNP read results.

The definition of a new haplogroup, meaning a high quality named SNP, is a new branch in the Y tree. Every new SNP mutation has the potential to be carried for many generations – or to go extinct in one or two.

As the industry has matured, SNP naming procedures have evolved too.

How SNP Names Are Assigned

The lab or entity that discovers a SNP gets to name the SNP. That means that their abbreviation is appended to the beginning of the SNP number, thereby in essence crediting that entity for the discovery. Clearly more conservative namers can’t append their initials to nearly as many SNPs as aggressive namers.

Here’s a list of the naming entities, maintained by ISOGG.

In 2006, the first year that ISOGG compiled a SNP tree, the number of Y DNA haplogroups was 460, including singletons, not tens of thousands. No one would ever have believed this SNP tsunami would happen, let alone in such a short time.

Naming SNPs

Family Tree DNA waiting to name SNPs until 3 were discovered in unrelated family lines, and requiring confirmation by Sanger sequencing allowed the analysis entities to “discover” and name the SNP with their own preceding prefix by implementing less stringent naming criteria. It also increased the possibility of dual naming, a phenomenon that occurs when multiple entities name the same SNP about the same time.

Some people who maintain trees list all of these equivalent SNPs that were named for the exact same mutation, at the same time. Family Tree DNA does not. If the same SNP is named more than once, Family Tree DNA selects one to name the tree branch – in the example below, ZP58. Checking YBrowse, this SNP was also named FGC11161 and ZP56.2.

However, you can see, that SNP ZP58 has several other SNPs keeping it company on the same branch, at least for now.

The FGC SNPs above are only assigned as branch equivalents of ZP58 until a discovery is made that will further divide this branch into two or more branches. That’s how the tree is built.

Sometimes defining a unique SNP is not as straightforward as one would think, especially not utilizing scan technology.

While YFull doesn’t do testing, Full Genomes Corporation does. All of the YFull named SNPs are a result of interpreting BAM files of individuals who have tested elsewhere and naming SNPs that the testing labs didn’t name.

Today, YBrowse, also maintained by ISOGG in conjunction with Thomas Krahn shows the following three organizations with the highest named SNP totals:

  • Family Tree DNA – BY and L prefixes, (L from before the Big Y test) – 153,902
  • YFull – Y prefix – 133,571 (plus 6447 YP SNPs submitted by citizen scientists for verification)
  • Full Genomes Corporation – FGC prefix – 81,363

Just because a SNP is named doesn’t mean that it has been placed on the haplotree. Today, Family Tree DNA has just over 14,100 branches on their tree, with a total of 102,104 SNPs (from all naming sources) placed on their tree. That number increases daily as the following placement criteria is met:

  • Read quality confirmed by the lab
  • Two or more instances of the SNP

SNPs Applied to Family History

All SNPs discovered through the Big Y process and named by Family Tree DNA begin with BY, so my Estes lineage is BY490. This mutation (SNP) occurred since Robert Eastye born in 1555, because one of his son’s descendants carries only BY482 and the descendants of another son carry BY490.

In the pedigree above, kit 166011, to the far right is BY482 and the rest are all BY490, which is one mutation below BY482 on the haplotree.

This means of course that the mutation BY490, occurred someplace between the common ancestor of all of these men, Robert Eastye born in 1555, and Abraham Estes born in 1647. All of Abraham’s descendants carry BY490 along with BY482, but kit 166011 does not. Therefore, we know within two generations of when BY490 occurred. Furthermore, if someone descended from one of Abraham’s brothers (Robert, Silvester, Thomas, Richard, Nicholas or John,) represented on this chart by Richard, we could tell from that result if the mutation occurred between Robert and Silvester, or between Silvester and Abraham.

Unnamed Variants Versus Named SNPs

As it turns out, reserving a location for the Unnamed Variants in the SNP tree is much like making a dinner reservation. It’s yours to claim, assuming everyone shows up.

In the case of Unnamed Variants, Family Tree DNA reserved the SNP name and the SNP will be placed on the tree as soon as a second occurrence is discovered and the SNP is entirely vetted for quality and accuracy. Palindromic and high repeat regions were excluded unless manually verified.

While this article isn’t going to delve into how to determine read quality, every SNP placed on the tree at Family Tree DNA is individually evaluated to assure that they are not being placed erroneously or that a “mutation” isn’t really a misalignment or read issue.

Currently, Family Tree DNA is working their way through the entire haplotree, placing SNPs in the correct location. As you can see, they have more than 100,000 to go and more SNPs are discovered every day.

In the case of the Estes men, you can see their branch placement in the much larger tree.

As we learn more, sometimes branch placements move.

Is Your Unnamed Variant on the List?

ISOGG maintains an index of BY SNPs. BY of course equates to Big Y.

Before using the index, you first need to sign on to your Family Tree DNA account and look at your Unnamed Variants on your Big Y personal page.

If you don’t have any Unnamed Variants, that means all of your Unnamed Variants have already been named. Congratulations!

If you do have Unnamed Variants, click on the position number to take a look on the browser.

This unnamed variant result is clearly a valid read, with almost every forward and reverse read showing the same mutation, all high-quality reads and no “messy” areas nearby that might suggest an alignment issue. You can read more about how to work with your Big Y results in the article, Working With the New Big Y Results (hg38).

Next, go to the ISOGG BY Index page and enter the position number of the variant in the search box – in this case, 13311600.

In this case, 13311600 is not included in the BY Index because YFull already beat Family Tree DNA to the punch and named this SNP.

How do I know that? Because after seeing that there was no result for 13311600 on the ISOGG page, I checked YBrowse.

You can utilize YBrowse to see if an Unnamed Variant has previously been named. You can see the SNP name, Y93760, directly above the left side of the red bar below. The “Y” of course tells you that YFull was the naming entity. (Note that you can click on any image to enlarge.)

YBrowse is more fussy and complex to use than doing the simple ISOGG search. You only need to utilize YBrowse if your Unnamed Variant isn’t listed in the BY ISOGG search tool.

To use YBrowse successfully, you must enter the search in the format of “chrY:13311600..1311600” without the quotation marks and where the number is the variant location, and then click search.

The next Unnamed Variant, 14070341, is included in the ISOGG search list, so no need to utilize YBrowse for this one.

To see the new name that this SNP will be awarded when/if it’s placed on the tree, click on the link “BY SNPs 100K.” You’ll see the page, below.

Then, scroll down or use your browser search to find the variant location.

There we go – this variant will be named BY105782 as soon as Family Tree DNA places it on the tree! I’ll be watching!

Where will it be located on the tree, and will it be the new Estes terminal SNP, meaning the SNP that defines our haplogroup? I can’t wait to find out! It’s so much fun to be a part of scientific discovery.

If you’re a male and haven’t taken the Big Y test, now’s a great timeClick here to order. You can play a role in scientific discovery too. Does your Y DNA carry undiscovered SNPs?

A big thank you to Family Tree DNA for making resources available to answer questions about their new SNPs and naming processes.

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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 Matching

A few days ago, Family Tree DNA announced and implemented Big Y Matching between participants who have taken the Big Y test.

This is certainly welcome news.  Let’s take a look at Big Y matching, what it means and how to utilize the features.

First, there are really two different groups of people who will benefit from the Big Y tests.

People trying to sort through lines of a common and related surname – like the McDonald or Campbell families, for example – and haplogroup researchers and project administrators.

My own family, for example, is badly brick walled with Charles Campbell first found in Hawkins County, TN in the 1780s.  We know, via STR testing that indeed, he matches the Campbell Clan from Scotland, but we have no idea who is father might have been.  STR testing hasn’t been definitive enough on Charles’ two known sons’ descendants, so I’m very hopeful that someday enough Campbell men will test that we’ll be able between STR and SNP mutations to at least narrow the possible family lines.  If I’m incredibly lucky, maybe there will be a family line SNP (Novel Variant) and it won’t just narrow the line, it will give me a long-awaited answer by genetically announcing which line was his.  Could I be that lucky???  That’s like winning the genetic genealogy lottery!

For today, the Big Y test at $695 is expensive to run on an entire project of people, not to mention that many of the original participants in projects, the long-time hard-core genealogists, have since passed away.  We are now into our 15th years of genetic genealogy.

For those studying haplogroups, the Big Y is a huge sandbox and those researchers have lost no time whatsoever comparing various individuals’ SNPS, both known and novel, and creating haplogroup trees of those SNPs.  This is done by hand today, or maybe more accurately stated, by Excel.  This is “not fun” to put it mildly.  We owe these folks a huge debt of gratitude.  Their results are curated and posted, provisionally, on the ISOGG Tree.

There is an in-between group as well, and those are people who are working to establish relationships between people of different surnames.  In my case, Native American ancestors whose descendants have different surnames today, but who do share a common ancestor in some timeframe.  That timeframe of course could be anyplace from a couple hundred to several thousand years, since their entry into the Americas across Beringia someplace in the neighborhood of 12-15 thousand years ago.

The Big Y matching is extremely helpful to projects.

Let’s take a look.

Big Y Matches

Big Y landing

On your personal page, under “Other Results,” you’ll see the Big Y results.  Click on Results” and you’ll see the following page.

big y results

The Known SNPs and Novel Variants tabs have been there since release, but the Matching tab, top left, is new.

By clicking on the Matching tab, you will then see the men you match based on your terminal SNP as determined in the Big Y Known SNPs data base.  You will be matched to men who carry up to and including 4 mutations difference in known SNPs, and unlimited novel variant differences.  If you have a zero in the “Known SNP Difference” column, that means you have no differences at all in known SNPs.

big y matches cropped2

The individual being used for an example here has paternal ancestry from Hungary.  His terminal SNP is reported as R-CTS11962.  Therefore, all of the people he matches should also carry this same SNP as their terminal SNP.

This is actually quite interesting, because of his 10 exact matches, 9 of them have surnames or genealogy that suggests eastern European/Slavic ancestry.  The 10th, however, which happens to be his closest match, carries an English surname and reports their ancestor to be from Yorkshire, England.  His one mutation differences carry the same pattern, with one being from England and two of the other three from eastern Europe.

Our participant has 155 total Novel Variants, 135 high quality and 20 medium quality.  Only high quality are listed in the comparison.  Medium quality are not.

Ancestral Location Known SNP Difference Shared Novel Variants Non Matching Known SNPs
Yorkshire, England 0 134 None
Prussia 0 127 None
Ukraine 0 121 None
Poland 0 121 None
Belarus 0 119 None
Poland 0 116 None
Poland 0 116 None
Russian e-mail 0 113 None
Bulgaria 0 113 None
Slovakia 0 111 None
English surname 1 126 PF6085
Undetermined, poss German 1 121 F1816
Poland 1 118 F552
Poland 1 116 CTS10137
Prussia 2 122 CTS11840 PF4522
Poland 2 112 L1029 PR6932
Russia 3 116 CTS3184 L1029 PF3643
Poland 3 106 CTS11962 L1029 L260
Ukraine 3 105 CTS11962 L1029 L260
Poland 3 104 CTS11962 L1029 L260
Poland 3 100 CTS11962 L1029 L260
Poland 3 99 CTS11962 L1029 L260
Eastern European surname 3 98 CTS11962 L1029 L260
Poland/Germany 3 97 CTS11962 L1029 L260
Austria/Galacia 3 93 CTS11962 L1029 L260
Poland 4 97 CTS11562 CTS11962 L1029 L260

It’s also very interesting to note that his non-matching known SNPs tend to cluster.  Non-matching known SNPs can go in either direction – meaning that they could be absent in our participant and present in the rest, or vice versa.

l1029 search

It’s easy to tell.  In the Big Y Results, under Known SNPs, there is a search feature.  This means that it’s easy to search for SNPs and to determine their status.  For example, above, our participant does carry SNP L1029 (he’s derived or positive (+) for the mutation in question).  This means that our participant has developed L1029, and, it just so happens, also CTS11962 and L260, the three clustered SNPs, since these men shared a common ancestor.

It’s difficult not to speculate a little.  If the TMCRA Big Y SNP estimates are correct, this suggests that these 3 clustered SNPS occurred someplace between 4350 and about 5000 years ago, based on the range (93-106) of the number of high quality novel variant differences.  We’ll talk more about this in a minute.

f552 search

For SNP F552, our participant is negative, meaning that that other person has developed this SNP since their shared ancestor.  In fact, he’s negative for all of the other Known SNP differences.

Novel Variants

The Novel Variants are quite interesting.  Novel Variants are mutations that if found in enough people who are not related within a family group will someday become SNPs on the tree.  Think of them as ripening SNPs.

By clicking on the “Show All” dropdown box you can see the list of the participants novel variants and how many of his matches share that Novel Variant.

novel variant list

In this example, all 26 of our participant’s novel variants share 13142597.  I’m thinking that this Novel Variant will someday become classified as a SNP and not as a Novel Variant anymore.  When that happens, and no, we don’t know how often Family Tree DNA will be reviewing the Novel Variants for SNP candidates, it will no longer be in the Novel Variant list.  The Novel Variants are meant to be family, novel or lineage SNPs, not population based SNPS that apply to a wide variety of people.  Finding these, of course, and adding them to the human haplotree is the entire purpose of full sequence Y chromosomal testing.  Just look at tall of this new information about this man’s ancestors and the DNA that they passed on to this gentleman.

By scrolling down to the bottom of that list, we find that our participant has 8 different Novel Variants where he matches only one individual.  By clicking on the Novel Variant number, you can see who he matches.  Of those 8, 7 of them match to the man who carries the English surname and one matches to a gentleman from Prussia.

This information is extremely interesting, but it gets even more interesting when compared against STR matches.  Our participant has a fairly unusual haplotype above 12 markers.  He has three 67 marker matches, two 37 marker matches and thirty-three 25 marker matches.  None of the men he matches on the SNP test match him on any of those tests.  I did not check his 12 marker matches, because I felt that anyone who would invest the money in the Big Y would certainly have tested above 12 markers plus our participants has several hundred 12 marker matches.

The numbers being bantered around by people working with SNP information suggest that one Big Y mutation equals about 150 years.  If this is true, then his closest match, the English gentleman from Yorkshire, England would share an ancestor about 2850 years ago.  That is clearly beyond the reach of STR markers in terms of generational predictions, so maybe STR matches are not expected in this situation, IF, the 150 year per novel variant estimate is close to accurate.

Another interesting piece of information that can be deduced from this information is how many SNPs were actually found.

At the bottom of our participants page, under Known SNPs, it says “Showing 24 of…571 entries (filtered from 36,274 total entries.)”  We know that the entire data base of SNPs that Family Tree is utilizing, which includes but is not limited to the 12,000+ Geno 2.0 SNPs, is 36,274.  In other words, 36,274 are the number of SNPs available to be found and counted as a SNP because they have already been defined as such.  Any other SNPs discovered are counted as Novel Variants.

Not all available SNPs are found and read in this type of next generation test.  The number of “Matching SNPs” with each individual gives us an idea of how many SNPs actually were found and read at either a medium and high confidence level.  Low confidence SNPs and no-calls are eliminated from reporting.

Our participants best match matches him on 25,397 SNPs.  This leaves a total of 10,877 SNPs that were not called.

The Future

SNP Matching is a wonderful feature and a first in this industry.  A hearty thank you to Family Tree DNA!

However, like all passionate people, we are already looking ahead to see what can be and should be done.

Here are some suggestions and questions I have about how the future will unwrap relative to Big Y SNP testing and matching.

  1. Within surname projects, matching should be relatively easy, unless hundreds of people test. I would be happy to have that problem. Today, administrators are creating spreadsheets of matches and novel SNPs and attempting to “reverse engineer” trees. In family groups, those trees would be of Novel SNPs, and in haplogroup projects, those trees would be of both Known SNPs and Novel Variants and where the Novel SNPS slip in-between the known SNPs to create new branches and sub-branches of the haplotree. We, as a community, need some tools to assist in this endeavor, for both the surname project admin and the haplogroup project admin as well.
  2. As new SNPs are discovered in the future, one will not be retested on this platform. As new SNPs are added to the tree, this could affect the matching by terminal SNP. Family Tree DNA needs to be prepared to deal with this eventuality.
  3. As a community, we desperately need a better tool to determine our actual “terminal SNP” as opposed to the Geno 2.0 terminal SNP. Yes, I know the ISOGG tree is provisional, but the contributed tools initially provided by volunteers to search the ISOGG tree utilizing the known SNPs reported in Big Y no longer work. We desperately need something similar while Family Tree DNA is revamping its own tree. I would hope that Family Tree DNA could add something like a secondary “search ISOGG tree” function as a customer courtesy, even if it needs some disclaimer verbiage as to the provisional nature of the tree.
  4. With the number of SNPs being searched for and reported, no calls begin to become an issue, especially if the no-call happens to be on the terminal SNP. We need to be able to determine whether a non-match with someone is actually a non-match or could be as a result of a no-call, and without resorting to searching raw data files. Today, participants can order a SNP test of a SNP position that has been reported as a no-call, but one needs to first figure that out that it is a no-call by looking at the BAM and BED files, something that is beyond the capability of most genetic genealogists. Furthermore, in the case of a “suspicious” no-call, where, for example, individuals in the same surname project with the same surname and other matching SNPS and STRs, some type of “smart-matching” needs to be put into place to alert the participant and project admin of this situation so that they can decide up on a proper course of action. In other words, no-calls need to be reported and accounted for in some fashion, as they are important data points for the genetic genealogist.

I am extremely grateful to Family Tree DNA for their efforts and for Big Y matching.  After all, matching is the backbone of genetic genealogy.  This list is not a complaint list, in any sense.  Family Tree DNA has a very long history of being responsive to their client base and I fully expect they will do the same with the next step in the Big Y journey.

The story of our DNA is not yet told.  Where our STR matches are found and where our SNP matches are found tells the story of the migration of our ancestors.  Today, SNPs and STRs promise to overlap, and already have in some cases.  If I could, I would order a Big Y test for every individual that I sponsor and for every person in each of my projects. I feel that these tests, combined, will help immensely to complete the puzzle to which we have disparate pieces today.  I look forward to the day when the time to the most recent common ancestor can be calculated by utilizing the Y STR markers, the known SNPs and the Novel Variants.  In a very large sense, the future has arrived today.  Now, we just have to test and figure out how all of the puzzle pieces fit together.

If you haven’t yet ordered a Big Y, you can order here.  The more people who test, the larger the comparison data base, and the sooner we will all have the answers we seek.

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