Concepts: Inheritance

Inheritance.

What is it?

How does it work?

I’m not talking about possessions – but about the DNA that you receive from your parents, and their parents.

The reason that genetic genealogy works is because of inheritance. You inherit DNA from your parents in a known and predictable fashion.

Fortunately, we have more than one kind of DNA to use for genealogy.

Types of DNA

Females have 3 types of DNA and males have 4. These different types of DNA are inherited in various ways and serve different genealogical purposes.

Males Females
Y DNA Yes No
Mitochondrial DNA Yes Yes
Autosomal DNA Yes Yes
X Chromosome Yes, their mother’s only Yes, from both parents

Different Inheritance Paths

Different types of DNA are inherited from different ancestors, down different ancestral paths.

Inheritance Paths

The inheritance path for Y DNA is father to son and is inherited by the brother, in this example, from his direct male ancestors shown by the blue arrow. The sister does not have a Y chromosome.

The inheritance path for the red mitochondrial DNA for both the brother and sister is from the direct matrilineal ancestors, only, shown by the red arrow.

Autosomal DNA is inherited from all ancestral lines on both the father’s and mother’s side of your tree, as illustrated by the broken green arrow.

The X chromosome has a slightly different inheritance path, depending on whether you are a male or female.

Let’s take a look at each type of inheritance, how it works, along with when and where it’s useful for genealogy.

Autosomal DNA

Autosomal DNA testing is the most common. It’s the DNA that you inherit from both of your parents through all ancestral lines back in time several generations. Autosomal DNA results in matches at the major testing companies such as FamilyTreeDNA, MyHeritage, Ancestry, and 23andMe where testers view trees or other hints, hoping to determine a common ancestor.

How does autosomal DNA work?

22 autosomes

Every person has two each of 22 chromosomes, shown above, meaning one copy is contributed by your mother and one copy by your father. Paired together, they form the two-sided shape we are familiar with.

For each pair of chromosomes, you receive one from your father, shown with a blue arrow under chromosome 1, and one from your mother, shown in red. In you, these are randomly combined, so you can’t readily tell which piece comes from which parent. Therein lies the challenge for genealogy.

This inheritance pattern is the same for all chromosomes, except for the 23rd pair of chromosomes, at bottom right, which determined the sex of the child.

The 23rd chromosome pair is inherited differently for males and females. One copy is the Y chromosome, shown in blue, and one copy is the X, shown in red. If you receive a Y chromosome from your father, you’re a male. If you receive an X from your father, you’re a female.

Autosomal Inheritance

First, let’s talk about how chromosomes 1-22 are inherited, omitting chromosome 23, beginning with grandparents.

Inheritance son daughter

Every person inherits precisely half of each of their parents’ autosomal DNA. For example, you will receive one copy of your mother’s chromosome 1. Your mother’s chromosome 1 is a combination of her mother’s and father’s chromosome 1. Therefore, you’ll receive ABOUT 25% of each of your grandparents’ chromosome 1.

Inheritance son daughter difference

In reality, you will probably receive a different amount of your grandparent’s DNA, not exactly 25%, because your mother or father will probably contribute slightly more (or less) of the DNA of one of their parents than the other to their offspring.

Which pieces of DNA you inherit from your parents is random, and we don’t know how the human body selects which portions are and are not inherited, other than we know that large pieces are inherited together.

Therefore, the son and daughter won’t inherit the exact same segments of the grandparents’ DNA. They will likely share some of the same segments, but not all the same segments.

Inheritance maternal autosomalYou’ll notice that each parent carries more of each color DNA than they pass on to their own children, so different children receive different pieces of their parents’ DNA, and varying percentages of their grandparents’ DNA.

I wrote about a 4 Generation Inheritance Study, here.

Perspective

Keep in mind that you will only inherit half of the DNA that each of your parents carries.

Looking at a chromosome browser, you match your parents on all of YOUR chromosomes.

Inheritance parental autosomal

For example, this is me compared to my father. I match my father on either his mother’s side, or his father’s side, on every single location on MY chromosomes. But I don’t match ALL of my father’s DNA, because I only received half of what he has.

From your parents’ perspective, you only have half of their DNA.

Let’s look at an illustration.

Inheritance mom dad

Here is an example of one of your father’s pairs of chromosomes 1-22. It doesn’t matter which chromosome, the concepts are the same.

He inherited the blue chromosome from his father and the pink chromosome from his mother.

Your father contributed half of his DNA to you, but that half is comprised of part of his father’s chromosome, and part of his mother’s chromosome, randomly selected in chunks referred to as segments.

Inheritance mom dad segments

Your father’s chromosomes are shown in the upper portion of the graphic, and your chromosome that you inherited from you father is shown below.

On your copy of your father’s chromosome, I’ve darkened the dark blue and dark pink segments that you inherited from him. You did not receive the light blue and light pink segments. Those segments of DNA are lost to your line, but one of your siblings might have inherited some of those pieces.

Inheritance mom dad both segments

Now, I’ve added the DNA that you inherited from your Mom into the mixture. You can see that you inherited the dark green from your Mom’s father and the dark peach from your Mom’s mother.

Inheritance grandparents dna

These colored segments reflect the DNA that you inherited from your 4 grandparents on this chromosome.

I often see questions from people wondering how they match someone from their mother’s side and someone else from their father’s side – on the same segment.

Understanding that you have a copy of the same chromosome from your mother and one from your father clearly shows how this happens.

Inheritance match 1 2

You carry a chromosome from each parent, so you will match different people on the same segment. One match is to the chromosome copy from Mom, and one match is to Dad’s DNA.

Inheritance 4 gen

Here is the full 4 generation inheritance showing Match 1 matching a segment from your Dad’s father and Match 2 matching a segment from your Mom’s father.

Your Parents Will Have More Matches Than You Do

From your parents’ perspective, you will only match (roughly) half of the DNA with other people that they will match. On your Dad’s side, on segment 1, you won’t match anyone pink because you didn’t inherit your paternal grandmother’s copy of segment 1, nor did you inherit your maternal grandmother’s segment 1 either. However, your parents will each have matches on those segments of DNA that you didn’t inherit from them.

From your perspective, one or the other of your parents will match ALL of the people you match – just like we see in Match 1 and Match 2.

Matching you plus either of your parents, on the same segment, is exactly how we determine whether a match is valid, meaning identical by descent, or invalid, meaning identical by chance. I wrote about that in the article, Concepts: Identical by…Descent, State, Population and Chance.

Inheritance on chromosomes 1-22 works in this fashion. So does the X chromosome, fundamentally, but the X chromosome has a unique inheritance pattern.

X Chromosome

The X chromosome is inherited differently for males as compared to females. This is because the 23rd pair of chromosomes determines a child’s sex.

If the child is a female, the child inherits an X from both parents. Inheritance works the same way as chromosomes 1-22, conceptually, but the inheritance path on her father’s side is different.

If the child is a male, the father contributes a Y chromosome, but no X, so the only X chromosome a male has is his mother’s X chromosome.

Males inherit X chromosomes differently than females, so a valid X match can only descend from certain ancestors on your tree.

inheritance x fan

This is my fan chart showing the X chromosome inheritance path, generated by using Charting Companion. My father’s paternal side of his chart is entirely blank – because he only received his X chromosome from his mother.

You’ll notice that the X chromosome can only descend from any male though his mother – the effect being a sort of checkerboard inheritance pattern. Only the pink and blue people potentially contributed all or portions of X chromosomes to me.

This can actually be very useful for genealogy, because several potential ancestors are immediately eliminated. I cannot have any X chromosome segment from the white boxes with no color.

The X Chromsome in Action

Here’s an X example of how inheritance works.

Inheritance X

The son inherits his entire X chromosome from his mother. She may give him all of her father’s or mother’s X, or parts of both. It’s not uncommon to find an entire X chromosome inherited. The son inherits no X from his father, because he inherits the Y chromosome instead.

Inheritance X daughter

The daughter inherits her father’s X chromosome, which is the identical X chromosome that her father inherited from his mother. The father doesn’t have any other X to contribute to his daughter, so like her father, she inherits no portion of an X chromosome from her paternal grandfather.

The daughter also received segments of her mother’s X that her mother inherited maternally and paternally. As with the son, the daughter can receive an entire X chromosome from either her maternal grandmother or maternal grandfather.

This next illustration ONLY pertains to chromosome 23, the X and Y chromosomes.

Inheritance x y

You can see in this combined graphic that the Y is only inherited by sons from one direct line, and the father’s X is only inherited by his daughter.

X chromosome results are included with autosomal results at both Family Tree DNA and 23andMe, but are not provided at MyHeritage. Ancestry, unfortunately, does not provide segment information of any kind, for the X or chromosomes 1-22. You can, however, transfer the DNA files to Family Tree DNA where you can view your X matches.

Note that X matches need to be larger than regular autosomal matches to be equally as useful due to lower SNP density. I use 10-15 cM as a minimum threshold for consideration, equivalent to about 7 cM for autosomal matches. In other words, roughly double the rule of thumb for segment size matching validity.

Autosomal Education

My blog is full of autosomal educational articles and is fully keyword searchable, but here are two introductory articles that include information from the four major vendors:

When to Purchase Autosomal DNA Tests

Literally, anytime you want to work on genealogy to connect with cousins, prove ancestors or break through brick walls.

  • Purchase tests for yourself and your siblings if both parents aren’t living
  • Purchase tests for both parents
  • Purchase tests for all grandparents
  • Purchase tests for siblings of your parents or your grandparents – they have DNA your parents (and you) didn’t inherit
  • Test all older generation family members
  • If the family member is deceased, test their offspring
  • Purchase tests for estimates of your ethnicity or ancestral origins

Y DNA

Y DNA is only inherited by males from males. The Y chromosome is what makes a male, male. Men inherit the Y chromosome intact from their father, with no contribution from the mother or any female, which is why men’s Y DNA matches that of their father and is not diluted in each generation.

Inheritance y mtdna

If there are no adoptions in the line, known or otherwise, the Y DNA will match men from the same Y DNA line with only small differences for many generations. Eventually, small changes known as mutations accrue. After many accumulated mutations taking several hundred years, men no longer match on special markers called Short Tandem Repeats (STR). STR markers generally match within the past 500-800 years, but further back in time, they accrue too many mutations to be considered a genealogical-era match.

Family Tree DNA sells this test in 67 and 111 marker panels, along with a product called the Big Y-700.

The Big Y-700 is the best-of-class of Y DNA tests and includes at least 700 STR markers along with SNPs which are also useful genealogically plus reach further back in time to create a more complete picture.

The Big Y-700 test scans the entire useful portion of the Y chromosome, about 15 million base pairs, as compared to 67 or 111 STR locations.

67 and 111 Marker Panel Customers Receive:

  • STR marker matches
  • Haplogroup estimate
  • Ancestral Origins
  • Matches Map showing locations of the earliest known ancestors of matches
  • Haplogroup Origins
  • Migration Maps
  • STR marker results
  • Haplotree and SNPs
  • SNP map

Y, mitochondrial and autosomal DNA customers all receive options for Advanced Matching.

Big Y-700 customers receive, in addition to the above:

  • All of the SNP markers in the known phylotree shown publicly, here
  • A refined, definitive haplogroup
  • Their place on the Block Tree, along with their matches
  • New or unknown private SNPs that might lead to a new haplogroup, or genetic clan, assignment
  • 700+ STR markers
  • Matching on both the STR markers and SNP markers, separately

Y DNA Education

I wrote several articles about understanding and using Y DNA:

When to Purchase Y DNA Tests

The Y DNA test is for males who wish to learn more about their paternal line and match against other men to determine or verify their genealogical lineage.

Women cannot test directly, but they can purchase the Y DNA test for men such as fathers, brothers, and uncles.

If you are purchasing for someone else, I recommend purchasing the Big Y-700 initially.

Why purchase the Big Y-700, when you can purchase a lower level test for less money? Because if you ever want to upgrade, and you likely will, you have to contact the tester and obtain their permission to upgrade their test. They may be ill, disinterested, or deceased, and you may not be able to upgrade their test at that time, so strike while the iron is hot.

The Big Y-700 provides testers, by far, the most Y DNA data to work (and fish) with.

Mitochondrial DNA

Inheritance mito

Mitochondrial DNA is passed from mothers to both sexes of their children, but only females pass it on.

In your tree, you and your siblings all inherit your mother’s mitochondrial DNA. She inherited it from her mother, and your grandmother from her mother, and so forth.

Mitochondrial DNA testers at FamilyTreeDNA receive:

  • A definitive haplogroup, thought of as a genetic clan
  • Matching
  • Matches Map showing locations of the earliest know ancestors of matches
  • Personalized mtDNA Journey video
  • Mutations
  • Haplogroup origins
  • Ancestral origins
  • Migration maps
  • Advanced matching

Of course, Y, mitochondrial and autosomal DNA testers can join various projects.

Mitochondrial DNA Education

I created a Mitochondrial DNA page with a comprehensive list of educational articles and resources.

When to Purchase Mitochondrial DNA Tests

Mitochondrial DNA can be valuable in terms of matching as well as breaking down brick walls for women ancestors with no surnames. You can also use targeted testing to prove, or disprove, relationship theories.

Furthermore, your mitochondrial DNA haplogroup, like Y DNA haplogroups, provides information about where your ancestors came from by identifying the part of the world where they have the most matches.

You’ll want to purchase the mtFull sequence test provided by Family Tree DNA. Earlier tests, such as the mtPlus, can be upgraded. The full sequence test tests all 16,569 locations on the mitochondria and provides testers with the highest level matching as well as their most refined haplogroup.

The full sequence test is only sold by Family Tree DNA and provides matching along with various tools. You’ll also be contributing to science by building the mitochondrial haplotree of womankind through the Million Mito Project.

Combined Resources for Genealogists

You may need to reach out to family members to obtain Y and mitochondrial DNA for your various genealogical lines.

For example, the daughter in the tree below, a genealogist, can personally take an autosomal test along with a mitochondrial test for her matrilineal line, but she cannot test for Y DNA, nor can she obtain her paternal grandmother’s mitochondrial DNA directly by testing herself.

Hearts represent mitochondrial DNA, and stars, Y DNA.

Inheritance combined

However, our genealogist’s brother, father or grandfather can test for her father’s (blue star) Y DNA.

Her father or any of his siblings can test for her paternal grandmother’s (hot pink heart) mitochondrial DNA, which provides information not available from any other tester in this tree, except for the paternal grandmother herself.

Our genealogist’s paternal grandfather, and his siblings, can test for his mother’s (yellow heart) mitochondrial DNA.

Our genealogist’s maternal grandfather can test for his (green star) Y DNA and (red heart) mitochondrial DNA.

And of course, it goes without saying that every single generation upstream of the daughter, our genealogist, should all take autosomal DNA tests.

So, with several candidates, who can and should test for what?

Person Y DNA Mitochondrial Autosomal
Daughter No Y – can’t test Yes, her pink mother’s Yes – Test
Son Yes – blue Y Yes, his pink mother’s Yes – Test
Father Yes – blue Y Yes – his magenta mother’s Yes – Test
Paternal Grandfather Yes – blue Y – Best to Test Yes, his yellow mother’s – Test Yes – Test
Mother No Y – can’t test Yes, her pink mother’s Yes – Test
Maternal Grandmother No Y – can’t test Yes, her pink mother’s – Best to Test Yes – Test
Maternal Grandfather Yes – green Y – Test Yes, his red mother’s – Test Yes – Test

The best person/people to test for each of the various lines and types of DNA is shown bolded above…assuming that all people are living. Of course, if they aren’t, then test anyone else in the tree who carries that particular DNA – and don’t forget to consider aunts and uncles, or their children, as candidates.

If one person takes the Y and/or mitochondrial DNA test to represent a specific line, you don’t need another person to take the same test for that line. The only possible exception would be to confirm a specific Y DNA result matches a lineage as expected.

Looking at our three-generation example, you’ll be able to obtain a total of two Y DNA lines, three mitochondrial DNA lines, and 8 autosomal results, helping you to understand and piece together your family line.

You might ask, given that the parents and grandparents have all autosomally tested in this example, if our genealogist really needs to test her brother, and the answer is probably not – at least not today.

However, in cases like this, I do test the sibling, simply because I can learn and it may encourage their interest or preserve their DNA for their children who might someday be interested. We also don’t know what kind of advances the future holds.

If the parents aren’t both available, then you’ll want to test as many of your (and their) siblings as possible to attempt to recover as much of the parents’ DNA, (and matches) as possible.

Your family members’ DNA is just as valuable to your research as your own.

Increase Your Odds

Don’t let any of your inherited DNA go unused.

You can increase your odds of having autosomal matches by making sure you are in all 4 major vendor databases.

Both FamilyTreeDNA and MyHeritage accept transfers from 23andMe and Ancestry, who don’t accept transfers. Transferring and matching is free, and their unlock fees, $19 at FamilyTreeDNA, and $29 at MyHeritage, respectively, to unlock their advanced tools are both less expensive than retesting.

You’ll find easy-to-follow step-by-step transfer instructions to and from the vendors in the article DNA File Upload-Download and Transfer Instructions to and from DNA Testing Companies.

Order

You can order any of the tests mentioned above by clicking on these links:

Autosomal:

Transfers

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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

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

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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

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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

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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

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  • 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.

McNiel Big Y block tree descent

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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

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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

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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

click to enlarge

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

click to enlarge

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

click to enlarge

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

click to enlarge

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

click to enlarge

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

click to enlarge

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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Y DNA: Part 2 – The Dictionary of DNA

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

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

Dictionary haplogroup.png

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

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

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

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

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

Dictionary helix structure.png

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

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

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

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

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

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

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

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

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

Some confusion exists about Y DNA SNP equivalence.

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

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

Dictionary SNPs before branching.png

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

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

Dictionary SNP branches.png

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

SNP testing occurs in multiple ways, including:

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

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

Dictionary R.png

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

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

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

Dictionary R branches.png

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

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

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

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

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

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

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

Dictionary Y matches.png

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

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

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

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

Dictionary Y block tree.png

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

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

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

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

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

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

Dictionary panel 1.png

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

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

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

Indel example 1

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

STR example

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

Indel example 3

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

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

Dictionary insertion example.png

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

Dictionary insertion example 1.png

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

Indel example 2

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

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

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

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

Dictionary public tree.png

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

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

Need Something Else?

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

DNAexplain search box.png

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

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

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Disclosure

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FamilyTreeDNA Thanksgiving Sale + New Comprehensive Health Report

FTDNA Thanksgiving.png

FamilyTreeDNA’s Thanksgiving Sale has begun. Almost everything is on sale. I don’t know about you, but I like to have all of my holiday planning and purchasing DONE before Thanksgiving. Some of the gifts I wanted for people this year are already sold out or backordered – but DNA testing is always available. The gift of history, and now of health too.

I wrote about the Big Y test and upgrades just a couple days ago, here, including the restructuring of the Big Y product resulting in a permanent $100 dollar reduction, in addition to sale prices.

FamilyTreeDNA has made a few product changes and introduced the new Tovana Health test.

I’ve included a special section of frequently asked questions (and answers) about tests and when upgrading does, and doesn’t, make sense.

Individual Tests

Let’s start with the sale prices for individual tests.

Test Sale Price Regular Price Savings
Family Finder (FF) $59 $79 $20
Y DNA 37 $99 $169 $70
Y DNA 111 *1 $199 $359 $160
Big Y-700 *2 $399 $649 $250
Mitochondrial Full Sequence *3 $139 $199 $60

*1 – You may notice that only the 37-marker and 111-marker tests are listed above. The 111-marker test was reduced to the 67-marker sale price, so, at least during the sale, the 67-marker test is not available. In other words, you get 111 markers for the price of 67.

*2 – The Big Y-700 test includes the Y 111 test plus another 589 STR markers (to equal or exceed 700 markers total) plus the SNP testing. You can read about the Big Y here.

*3 – The mitochondrial full sequence (FMS) aka mtFullSequence test is now the only mitochondrial DNA test available. I’m glad to see this change. The price of the mtFullSequence test has now dropped to the level of the less specific partial tests of yesteryear. Genealogists really need the granularity of the full test.

Bundles save even more – an additional $9 over purchasing the bundled items separately

Bundles

Test Sale Price Regular Price Savings
Family Finder + mtFullSequence $189 $278 $89
Family Finder + Y-37 $149 $248 $188
Family Finder + Y111 $249 $438 $189
Y-37 + mtFullSequence $229 $368 $139
Y-111 + mtFullSequence $329 $558 $229
Family Finder + Y-37 + mtFull $279 $447 $170
Family Finder + Y-111 + mtFull $379 $637 $258

When Does Upgrading Make Sense?

Y DNA Q&A

Q – If I have several Y DNA matches, will upgrading help?

A – If you need more specific or granular information to tease your line out of several matches – upgrading will help refine your matches and determine who is a closer match, assuming some of your matches have tested at a higher level.

Q – If I have tested at a lower level of STR markers and have no matches, will I have matches at a higher level?

A – Sometimes, but not usually. If your mutations just happen to fall in the lower panels, you may have matches on higher panels that allow for more mutations. If you do have matches on a higher test in this circumstance, the person may or may not have your surname. You can also join haplogroup and surname projects where thresholds are slightly lower for matching within projects.

If you don’t test, you’ll never know.

Q – If I have no matches on STR markers, meaning 12, 25, 37, 67 or 111, will upgrading to the Big Y be beneficial?

A – Possibly to probably – and here’s why, even if you don’t initially have matches:

  • The Big Y-700 provides multiple tools including matches at the SNP level, not just the STR level, so you are matched in two entirely different ways.
  • You may have same-surname matches at the SNP level that you do not have at the STR level which are further back in time, but still valuable and relevant to your family history.
  • You may have SNP matches that aren’t STR matches that are not your surname, but reflect your family history before the advent of surnames. These matches can tell you where your family came from before you can locate them in records. In fact, this is the ONLY way you can track your family before the advent of surnames.
  • Even if you don’t have matches, you’ll receive all of your SNP markers that allow you to view your results on the Block Tree, which is in essence a migration map back through time. You can read about the Block Tree here.
  • Your test contributes to building the phylotree – meaning the Y DNA tree of man – which benefits all genealogists. In just the first 10 months of 2019, 32,000 new SNPs have been placed on the tree, resulting in about 5,000 new individual branches. All because of Big Y-700
  • New people test every day and your DNA tests fish for you every minute of every day.

Mitochondrial DNA Q&A

If you’ve previously taken lower level mitochondrial HVR1 and HVR2 tests, now is the perfect time to upgrade.

Q – I have 5,000 <or fill in large number here> HVR1 level matches. Will upgrading reduce the number of matches to those that are more meaningful?

A – Absolutely! Your most genealogically relevant matches, meaning closest in time, are those that match you exactly at the full sequence level.

Q – I don’t know where my ancestor was from. Can a full sequence test help me?

A – Yes. You can use the Matches Map and see where the ancestors of your closest matches were from. That’s a huge hint. You can also utilize your haplogroup, which, in some instances, will point to a specific continent such as Africa, Europe, Asia or Native American and Jewish populations.

Q – If I have no matches at the HVR1 or HVR2 level? Will an upgrade help me?

A – Possibly. Both the HVR1 and HVR2 (now obsolete) tests only allowed for one mutation difference to be considered a match. The full sequence allows for many more differences. If you were unlucky and your mutations just happened to fall in the HVR1 or HVR2 levels, it would prevent a match which will occur at a higher level. Either way, you’ll receive information about your rare mutations – which may well explain why you don’t have matches (yet)! You’ll also receive a full haplogroup which will be useful, allowing you to use the mitochondrial haplotree to track back in time, which I wrote about here.

There are so many ways to obtain useful information. I wrote a step-by-step guide to using mitochondrial DNA, here.

Upgrade Options

Please note that if you are considering an upgrade, it maybe beneficial to upgrade to the maximum test available for either the Y or mitochondrial DNA, especially if you cannot obtain more of the sample. Of course, if it’s your own sample, you can always swab again, but others can’t.

Every time a vial is opened for testing, more DNA is used, until there is none left. Additionally, DNA degrades with time, depending on the quality of the original scraping and the amount of bacteria in the sample. Generally, the sample is viable for at least 5 years, but not always. Some older samples remain viable for many years. There’s no way to know in advance.

Test Sale Price Regular Price Savings
Y-12 to Y-37 $79 $109 $30
Y-12 to Y-67 $149 $199 $50
Y-12 to Y-111 $169 $359 $190
Y-25 to Y-37 $49 $59 $10
Y-25 to Y-67 $119 $159 $40
Y-25 to Y-111 $149 $269 $120
Y-37 to Y-67 $69 $109 $40
Y-37 to Y-111 $119 $228 $109
Y-67 to Y-111 $69 $99 $30
Y-12 to Big Y-700 $359 $629 $270
Y-25 to Big Y-700 $349 $599 $250
Y-37 to Big Y-700 $319 $569 $250
Y-67 to Big Y-700 $259 $499 $240
Y-111 to Big Y-700 $229 $499 $270
Big Y-500 to Big Y-700 $189 $249 $60
HVR1 to mtFullSequence $99 $159 $60
mtDNA Plus to mtFullSequence $99 $159 $60

Tovana – A New Limited Availability Exome Medical Report 

Recently, FamilyTreeDNA did a limited announcement about a medically supervised health exome health test for a subset of customers, specifically customers who:

  • Don’t live in Pennsylvania, New York, California or Maryland, due to state law restrictions.
  • Took the Family Finder test since October 2015 – meaning no transfers. The Family Finder test is used in conjunction with the exome chip to generate the customer report.

If you took the Family Finder test before October 2015, you are eligible but the rollout is being done in stages and your kit will be eligible in December.

This Tovana Genome Report is focused towards people who are health and wellness conscious. Meaning those who don’t want to die a premature death that might be preventable.

All genetic health tests focus on predispositions. You may or may not develop the condition, with a few notable exceptions, but forewarned is forearmed.

You might, however, be VERY interested in intervening, one way or another, BEFORE you develop potentially life-threatening conditions, or taking preventative actions to avoid developing those conditions. At the very least, you can be aware and monitor your health to catch them early, when they are treatable, manageable or potentially curable.

It only takes one, ONE, terrifying experience to convince you that health testing might make a difference.

Once you’re embroiled in that health nightmare, there is no going back in time to take a test and enact preventative measures.

My mother might still be with us had we known she was susceptible to blood clots. My sister had metastatic breast cancer.

Let me show you something from a Tovana report.

FTDNA Tovana.png

This portion of a page from an actual customer report shows this individual is positive for a mutation for a clotting disorder where clots are formed that can cause strokes, pulmonary embolisms and DVTs (deep vein thrombosis).

I’d give anything, any amount of money – to have had advance warning so we could have watched my mother more vigilantly and taken simple proactive measures that might have prevented her stroke and resulting death.

What would another 10 or 15 years with her have been worth?

We could have and would have discussed this with her doctors and asked about preventative measures, like taking aspirin or other measures as indicated by her health and other medications. (Please do not self-diagnose or medicate without discussing with your physician as drugs interact in ways patients may not be aware of.)

Compared to hospital (or funeral) bills, not to mention the sheer agony…the cost of this test at $799 is irrelevant. What better way to say, “I love you”?

I would pick up bottles by the side of the road, if I needed to, to be able to purchase this test for my Mom 15 years ago. Sadly, this type of testing wasn’t available then, but it is now.

Ignorance is not bliss.

I want to know if I or my children carry these predispositions so that we can take action.

The Tovana Test is Different

The Tovana test is different from and much more comprehensive than the tests offered by Ancestry, MyHeritage and 23andMe that utilize only your autosomal genealogy test.

To begin with, the Tovana test is run on an exome chip that tests over 50 million locations in addition to the 700,000+ locations tested in the Family Finder test.

The completed report that I viewed was 128 pages in length, with lots of graphics. This  explain explains autosomal dominant inheritance.

FTDNA Tovana autosomal dominant.png

The report is very user-friendly, including drawings, a risk-meter for polygenic conditions that involve more than a simple yes or no answer, explanations and recommendations for each condition reported.

FTDNA Tovana risk meter.png

And yes, in case you’re wondering, the report also includes the fun traits like ear wax and such that you can discuss if you’re bored beyond imagination at a cocktail party.

Each report is centered around and tailored to the family information you provide, such as known Jewish heritage, or known cases of cancer.

FTDNA Tovana Table of Contents.png

Comparisons

I’ve compiled a chart with some comparison details – although this test is in a class by itself where the other three tests compete directly with each other.

I’ve personally taken the other tests, except for the Ancestry upgrade. I also took an early exome test a few years ago, but THAT ONE CAME WITH NO REPORT OR EXPLANATIONS.

  23andme Ancestry Health Core MyHeritage Family Tree DNA Tovana Test
# DNA locations tested About 700,000 About 700,000 About 700,000 >50 million plus the 700,000 in the Family Finder test
# Results Provided to Customer 78 health + polygenic diabetes +34 traits such as freckles 84 88+ polygenic heart, diabetes, breast cancer 3000+ including many polygenic diseases including heart, diabetes & 35 genes associated with breast cancer
Physician Oversight No PWNHealth PWNHealth Tovana
Personal Clinical Analysis No No No Yes
Analysis, Interpretation by board certified geneticist No No No Yes
Genetic Counseling No Yes, limited Yes, limited $50 for 30-minute session
Updates Yes, episodic depending on test level, may not receive, sometimes have to purchase new test No, one time results only Yes, free for first year then with $99 per year subscription Not at this time, but under consideration
Cost – Initial Purchase $149 upgrade only after DNA test $199 new purchase -combined health plus ancestry $799 introductory price
Upgrade if Already Tested No $49 upgrade if have already tested $120 to upgrade if already tested, plus $99 year subscription after year 1 Not relevant
Requirements None This is an upgrade from an existing Ancestry test Must test with MyHeritage, not a transfer kit

Are You Eligible?

To see if you are one of the customers eligible to purchase the Tovane Genome Report, sign in, here, and then check your personal page under “Additional Features” to see if the Tovana Genome Report is available. If so, click for more information or to order.

FTDNA Tovana order.png

You’ve probably guessed what my family is receiving for Christmas😊. No one else is going to suffer from or die from something preventable if I can help it.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Big Y News and Stats + Sale

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

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

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

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

Big Y Pricing Structure Change

FamilyTreeDNA recently anounced some product structure changes.

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

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

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

2019 has been a Banner Year

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

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

Drum roll please…

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

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

Haplotree Branches

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

Big Y 700 haplotree branches.png

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

Big Y 700 haplotree branches small.png

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

Big Y 700 haplotree branches large.png

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

Haplotree Variants

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

Big Y 700 variants.png

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

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

Big Y 700 variants small.png

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

Big Y 700 variants large.png

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

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

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

Big Y 700 Estes.png

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

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

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

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

Big Y 700 Estes block tree.png

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

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

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

Every. Single. One.

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

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

Reduced Prices

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

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

 

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

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

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

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

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

Click here to order or upgrade!

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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-500 STR Matching

Family Tree DNA recently introduced Big Y-500 STR matching for men who have taken  the Big Y-500 test. This is in addition to the SNP results and matching. If you’d like an introduction or definition of the terms STR and SNP, you can read about SNPs and STRs here.

Beginning in April 2018, Family Tree DNA included an additional 379+ STR markers for free for Big Y testers as a bonus, meaning for free, including all earlier testers.

While the Big Y-500 STR marker values have been included in customers’ results for several months, unless you contacted your matches directly, you didn’t know how many of those additional markers above 111 you matched on – until now.

If you haven’t taken the Big Y test, the article Why the Big Y Test? will explain why you might want to. In addition to the Big Y results, which refine your haplogroup and scan the entire gold standard region of the Y chromosome looking for SNPs, you’ll also receive at least 389 Y STR markers above the 111 STR panel for total of at least 500, for free – which is why the name of the Big Y test was changed to the Big Y-500. If you haven’t tested at the 111 marker level, don’t worry about that because the cost of the upgrade is bundled in the price of the Big Y-500 test. Click here to sign in to your account and then click on the blue upgrade button to view pricing.

Big Y-500 STR Matching

To view your matches and values above the traditional 111 makers, sign on to your account and click on Y DNA matches.

You’ll see the following display.

Y500 matches

The column “Big Y-500 STR Differences” is new. If you have not taken the Big Y-500 test, you won’t see this column.

If you have taken the Big Y-500, you’ll see results for any other man that you match who has taken the Big Y-500 test. In this example, 5 of this person’s matches have also taken the Big Y-500 test.

What Are Big Y-500 STR Differences?

The “Big Y-500 STR Differences” column values are expressed in the format “4 of 441” or something similar.

The first number represents the number of non-matching locations you have above 111 markers – in this case, 4. In the csv download file, this value is displayed in the “Big Y-500 Differences” column.

The second number represents the total number of markers above 111 that have a value for both of you – in this case, 441. In other words, you and the other man are being compared on 441 marker locations. In the csv download file, this value is displayed in the “Big Y-500 Compared” column.

Because the markers above 111 are processed using NGS (next generation sequencing) scan technology, virtually every kit will have some marker locations that have no-calls, meaning the test doesn’t read reliably at that location in spite of being scanned several times.

It’s more difficult to read STRs accurately using NGS scan technology, as compared to SNPs. SNPs are only one position in length, so only one position needs to be read correctly. STRs are repeated of a sequence of nucleotides. A 20 repeat sequence could consist of 20 copies of a series of 4 nucleotides, so a total of 80 positions in a row would need to be successfully read several times.

Let’s take a look at how matching works.

How Does Big Y-500 STR Matching Work?

If you have a total of 441 markers that read reliably, but your match has a total of 439 that produced results, the maximum number of markers possible to share would be 439. If you both have no calls on different marker locations, you would match on fewer than 439 locations. Here’s an example just using 9 fictitious markers.

Y500 match example

Based on the example above, we can see that the red cells can’t match because they experienced no-calls, and the yellow cells do have results, but don’t match.

Y500 summary

New Filter

There’s also a new filter option so you can view only matches that have taken the Big Y-500 test.

Y500 filter

Let’s look at some of the questions people have been asking.

Frequently Asked Questions

Question 1: Are the markers above 111 taken into account in the Genetic Distance column?

Answer: No, the values calculated in the genetic distance column are the number of mismatches for the marker level you are viewing using a combination of the step-wise and infinite alleles mutation models. (Stay with me here.)

In our example, we’re viewing the 111 marker level, so the genetic distance tells you the number of mismatches at 111 markers. If we were viewing the 67 marker level, then the genetic distance would be for 67 markers.

The number of mismatches above 111 markers shows separately in the “Big Y-500 STR Differences” column and is calculated using the infinite alleles model, meaning every mutation is counted as one difference. You can read more about genetic distance in the article, Concepts – Genetic Distance.

The good news is that you don’t need to calculate anything, but you may want to understand how the markers are scored and how the genetic distance is calculated. If so, go ahead and read question 2. If not, skip to question 3.

Question 2: What’s the difference between the step-wise model and the infinite alleles model?

Answer: The step-wise model assumes that a mutated value on a particular marker of multiple steps, meaning a difference between a 28 for one man and a 30 for another is a result of two separate mutation events that happened at different times, so counted as 2 mutations, 2 steps, so a genetic distance of 2.

However, this doesn’t work well with palindromic markers, explained here, where multi-copy markers, such as DYS464, often mutate more than one step at a time.

Counting multiple mathematical differences as only one mutation event is called the infinite alleles model. For example, a dual copy marker that has a value of 15-16 could mutate to 15-18 in one step and would be counted as one mutation event, and one difference and a genetic distance of one using the infinite alleles model. The same event would count as 2 mutation events (steps) and a genetic distance of 2 using the step-wise mutation model. In this article, I explain which markers are calculated using which methodology.

Another good infinite alleles example is when a location loses it’s DNA at a marker entirely. If the marker value for most men being compared is 10 and is being compared to a  person with no DNA at that location, resulting in a null value of 0 (which is not the same as a no-call which means the location couldn’t be read successfully), the mutation event happened in one step, and the difference should be counted as one event, one step and a genetic distance of one, not 10 events, 10 steps and a genetic distance of 10.

To recap, the values of markers 1-111 are calculated by a combination of the step-wise model and the infinite alleles model, depending on the marker number and situation. The differences in markers above 111 are calculated using the infinite alleles model where every mutation or difference equals a distance of one unless a zero (null) is encountered. In that case, the mutation event is considered a one. However, above 111 markers, using NGS technology, most instances where no DNA is encountered results in a no-read, not a null value.

Question 3: Has the TIP calculator been updated?

Answer: No, the TIP calculator does not take into account the new markers above 111. The TIP calculator relies upon the combined statistical mutation frequency for each marker and includes haplogroup differences. Therefore, it would be difficult to compensate for different numbers of markers, with various markers missing for each individual above 111 markers. The TIP calculator only utilizes markers 1-111.

Question 4: Do projects display more than 111 markers?

Answer: No, projects don’t display the additional markers, at least not yet. The 111 marker results require scrolling to the right significantly, and 500 markers would require 5 times as much scrolling to compare values. Anyone with an idea how to better accomplish a public project display/comparison should submit their idea to Family Tree DNA.

Question 5: Which markers above 111 are fast versus slow mutating?

Answer: Results for these markers are new and statistical compilations aren’t yet available. However, initial results for surname projects in which several men who share a surname and match have tested indicate that there’s not as much variation in these additional markers as we’ve seen in the previous 111 markers, meaning Family Tree DNA already selected the most informative genealogical markers initially. This suggests that the additional markers may provide additional mutations but probably not five times as many as the initial 111 markers.

Question 6: Why do I have more mutations in the first 111 markers than I do in the 389+ markers above the 111 panel?

Answer: That’s a really good question. You’ve probably noticed in our example that the men have dis-proportionally more mutations in the first 111 markers than in the markers above 111.

Y500 genetic distance

The trend is clearly for the first 111 markers to mutate more frequently than the 379+ markers above 111. This means that the first 111 markers are generally going to be more genealogically informative than the balance of the 379+ markers. However, and this is a big however, if the line marker mutation that you need to sort out your group of men occurs in the markers above 111, the number of mutations and the percentages don’t mean anything at all. The information that matters is how you can utilize these markers to differentiate men within the line you are working with, and what story those markers tell.

Of course, the markers above 111 are free as part of the Big Y-500 test which is designed to extract as much SNP information as possible. In essence, these STR markers are icing on the cake – a treat we never expected.

Bottom Line

Here’s the bottom line about the Big-Y 500 STR markers. You don’t know what you don’t know and these 379+ STR markers come along with the Big Y test as a bonus. If you’re looking for line-marker STR mutations in groups of men, the Big Y-500 is a logical next step after 111 marker testing.

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Disclosure

I receive a small contribution when you click on some (but not all) 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

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Whole Genome Sequencing – Is It Ready for Prime Time?

Dante Labs is offering a whole genomes test for $199 this week as an early Black Friday special.

Please note that just as I was getting ready to push the publish button on this article, Veritas Genetics also jumped on the whole sequencing bandwagon for $199 for the first 1000 testers Nov. 19 and 20th. In this article, I discuss the Dante Labs test. I have NOT reviewed Veritas, their test nor terms, so the same cautions discussed below apply to them and any other company offering whole genome sequencing. The Veritas link is here.

Update – Veritas provides the VCF file for an additional $99, but does not provide FASTQ or BAM files, per their Tweet to me.

I have no affiliation with either company.

$199 (US) is actually a great price for a whole genome test, but before you click and purchase, there are some things you need to know about whole genome sequencing (WGS) and what it can and can’t do for you. Or maybe better stated, what you’ll have to do with your own results before you can utilize the information for genealogical purposes.

The four questions you need to ask yourself are:

  • Why do you want to consider whole genome testing?
  • What question(s) are you trying to answer?
  • What information do you seek?
  • What is your testing goal?

I’m going to say this once now, and I’ll say it again at the end of the article.

Whole genome sequencing tests are NOT A REPLACEMENT FOR GENEALOGICAL DNA TESTS for mitochondrial, Y or autosomal testing. Whole genome sequencing is not a genealogy magic bullet.

There are both pros and cons of this type of purchase, as with most everything. Whole genome tests are for the most experienced and technically savvy genetic genealogists who understand both working with genetics and this field well, who have already taken the vendors’ genealogy tests and are already in the Y, mitochondrial and autosomal comparison data bases.

If that’s you or you’re interested in medical information, you might want to consider a whole genome test.

Let’s start with some basics.

What Is Whole Genome Sequencing?

Whole Genome Sequencing will sequence most of your genome. Keep in mind that humans are more than 99% identical, so the only portions that you’ll care about either medically or genealogically are the portions that differ or tend to mutate. Comparing regions where you match everyone else tells you exactly nothing at all.

Exome Sequencing – A Subset of Whole Genome

Exome sequencing, a subset of whole genome sequencing is utilized for medical testing. The Exome is the region identified as the portions most likely to mutate and that hold medically relevant information. You can read about the benefits and challenges of exome testing here.

I have had my Exome sequenced twice, once at Helix and once at Genos, now owned by NantOmics. Currently, NantOmics does not have a customer sign-in and has acquired my DNA sequence as part of the absorption of Genos. I’ll be writing about that separately. There is always some level of consumer risk in dealing with a startup.

Helix sequences your Exome (plus) so that you can order a variety of DNA based or personally themed products from their marketplace, although I’m not convinced about the utility of even the legitimacy of some of the available tests, such as the “Wine Explorer.”

On the other hand, the world-class The National Geographic Society’s Genographic Project now utilizes Helix for their testing, as does Spencer Well’s company, Insitome.

You can also pay to download your Exome sequence data separately for $499.

Autosomal Testing for Genealogy

Both whole genome and Exome testing are autosomal testing, meaning that they test chromosomes 1-22 (as opposed to Y and mitochondrial DNA) but the number of autosomal locations varies vastly between the various types of tests.

The locations selected by the genealogy testing companies are a subset of both the whole genome and the Exome. The different vendors that compare your DNA for genealogy generally utilize between 600,000 and 900,000 chip-specific locations that they have selected as being inclined to mutate – meaning that we can obtain genealogically relevant information from those mutations.

Some vendors (for example, 23andMe and Ancestry) also include some medical SNPs (single nucleotide polymorphisms) on their chips, as both have formed medical research alliances with various companies.

Whole genome and Exome sequencing includes these same locations, BUT, the whole genome providers don’t compare the files to other testers nor reduce the files to the locations useful for genealogical comparisons. In other words, they don’t create upload files for you.

The following chart is not to scale, but is meant to convey the concept that the Exome is a subset of the whole genome, and the autosomal vendors’ selected SNPs, although not the same between the companies, are all subsets of the Exome and full genome.

I have not had my whole genome sequenced because I have seen no purpose for doing so, outside of curiosity.

This is NOT to imply that you shouldn’t. However, here are some things to think about.

Whole Genome Sequencing Questions

Coverage – Medical grade coverage is considered to be 30X, meaning an average of 30 scans of every targeted location in your genome. Some will have more and some will have less. This means that your DNA is scanned thirty different times to minimize errors. If a read error happens once or twice, it’s unlikely that the same error will happen several more times. You can read about coverage here and here.

Genomics Education Programme [CC BY 2.0 (https://creativecommons.org/licenses/by/2.

Here’s an example where the read length of Read 1 is 18, and the depth of the location shown in light blue is 4, meaning 4 actual reads were obtained. If the goal was 30X, then this result would be very poor. If the goal was 4X then this location is a high quality result for a 4X read.

In the above example, if the reference value, meaning the value at the light blue location for most people is T, then 4 instances of a T means you don’t have a mutation. On the other hand, if T is not the reference value, then 4 instances of T means that a mutation has occurred in that location.

Dante Labs coverage information is provided from their webpage as follows:

Other vendors coverage values will differ, but you should always know what you are purchasing.

Ownership – Who owns your data? What happens to your DNA itself (the sample) and results (the files) under normal circumstances and if the company is sold. Typically, the assets of the company, meaning your information, are included during any acquisition.

Does the company “share, lease or sell” your information as an additional revenue stream with other entities? If so, do they ask your permission each and every time? Do they perform internal medical research and then sell the results? What, if anything, is your DNA going to be used for other than the purpose for which you purchased the test? What control do you exercise over that usage?

Read the terms and conditions carefully for every vendor before purchasing.

File Delivery – Three types of files are generated during a whole genome test.

The VCF (Variant Call Format) which details your locations that are different from the reference file. A reference file is the “normal” value for humans.

A FASTQ file which includes the nucleotide sequence along with a corresponding quality score. Mutations in a messy area or that are not consistent may not be “real” and are considered false positives.

The BAM (Binary Alignment Map) file is used for Y DNA SNP alignment. The output from a BAM file is displayed in Family Tree DNA’s Big Y browser for their customers. Are these files delivered to you? If so, how? Family Tree DNA delivers their Big Y DNA BAM files as free downloads.

Typically whole genome data is too large for a download, so it is sent on a disc drive to you. Dante provides this disc for BAM and FASTQ files for 59 Euro ($69 US) plus shipping. VCF files are available free, but if you’re going to order this product, it would be a shame not to receive everything available.

Version – Discoveries are still being made to the human genome. If you thought we’re all done with that, we’re not. As new regions are mapped successfully, the addresses for the rest change, and a new genomic map is created. Think of this as street addresses and a new cluster of houses is now inserted between existing houses. All of the houses are periodically renumbered.

Today, typically results are delivered in either of two versions: hg19(GRVH37) or hg38(GRCH38). What happens when the next hg (human genome) version is released?

When you test with a vendor who uses your data for comparison as a part of a product they offer, they must realign your data so that the comparison will work for all of their customers (think Family Tree DNA and GedMatch, for example), but a vendor who only offers the testing service has no motivation to realign your output file for you. You only pay for sequencing, not for any after-the-fact services.

Platform – Multiple sequencing platforms are available, and not all platforms are entirely compatible with other competing platforms. For example, the Illumina platform and chips may or may not be compatible with the Affymetrix platform (now Thermo Fisher) and chips. Ask about chip compatibility if you have a specific usage in mind before you purchase.

Location – Where is your DNA actually being sequenced? Are you comfortable having your DNA sent to that geographic location for processing? I’m personally fine with anyplace in either the US, Canada or most of Europe, but other locations maybe not so much. I’d have to evaluate the privacy policies, applicable laws, non-citizen recourse and track record of those countries.

Last but perhaps most important, what do you want to DO with this file/information?

Utilization

What you receive from whole genome sequencing is files. What are you going to do with those files? How can you use them? What is your purpose or goal? How technically skilled are you, and how well do you understand what needs to be done to utilize those files?

A Specific Medical Question

If you have a particular question about a specific medical location, Dante allows you to ask the question as soon as you purchase, but you must know what question to ask as they note below.

You can click on their link to view their report on genetic diseases, but keep in mind, this is the disease you specifically ask about. You will very likely NOT be able to interpret this report without a genetic counselor or physician specializing in this field.

Take a look at both sample reports, here.

Health and Wellness in General

The Dante Labs Health and Wellness Report appears to be a collaborative effort with Sequencing.com and also appears to be included in the purchase price.

I uploaded both my Exome and my autosomal DNA results from the various testing companies (23andMe V3 and V4, Ancestry V1 and V2, Family Tree DNA, LivingDNA, DNA.Land) to Promethease for evaluation and there was very little difference between the health-related information returned based on my Exome data and the autosomal testing vendors. The difference is, of course, that the Exome coverage is much deeper (and therefore more reliable) because that test is a medical test, not a consumer genealogy test and more locations are covered. Whole genome testing would be more complete.

I wrote about Promethease here and here. Promethease does accept VCF files from various vendors who provide whole genome testing.

None of these tests are designed or meant for medical interpretation by non-professionals.

Medical Testing

If you plan to test with the idea that should your physician need a genetics test, you’re already ahead of the curve, don’t be so sure. It’s likely that your physician will want a genetics test using the latest technology, from their own lab, where they understand the quality measures in place as well as how the data is presented to them. They are unlikely to accept a test from any other source. I know, because I’ve already had this experience.

Genealogical Comparisons

The power of DNA testing for genealogy is comparing your data to others. Testing in isolation is not useful.

Mitochondrial DNA – I can’t tell for sure based on the sample reports, but it appears that you receive your full sequence haplogroup and probably your mutations as well from Dante. They don’t say which version of mitochondrial DNA they utilize.

However, without the ability to compare to other testers in a database, what genealogical benefit can you derive from this information?

Furthermore, mitochondrial DNA also has “versions,” and converting from an older to a newer version is anything but trivial. Haplogroups are renamed and branches sawed from one part of the mitochondrial haplotree and grafted onto another. A testing (only) vendor that does not provide comparisons has absolutely no reason to update your results and can’t be expected to do so. V17 is the current build, released in February 2016, with the earlier version history here.

Family Tree DNA is the only vendor who tests your full sequence mitochondrial DNA, compares it to other testers and updates your results when a new version is released. You can read more about this process, here and how to work with mtDNA results here.

Y DNA – Dante Labs provides BAM files, but other whole genome sequencers may not. Check before you purchase if you are interested in Y DNA. Again, you’ll need to be able to analyze the results and submit them for comparison. If you are not capable of doing that, you’ll need to pay a third party like either YFull or FGS (Full Genome Sequencing) or take the Big Y test at Family Tree DNA who has the largest Y Database worldwide and compares results.

Typically whole genome testers are looking for Y DNA SNPs, not STR values in BAM files. STR (short tandem repeat) values are the results that you receive when you purchase the 37, 67 or 111 tests at Family Tree DNA, as compared to the Big Y test which provides you with SNPs in order to resolve your haplogroup at the most granular level possible. You can read about the difference between SNPs and STRs here.

As with SNP data, you’ll need outside assistance to extract your STR information from the whole genome sequence information, none of which will be able to be compared with the testers in the Family Tree DNA data base. There is also an issue of copy-count standardization between vendors.

You can read about how to work with STR results and matches here and Big Y results here.

Autosomal DNA – None of the major providers that accept transfers (MyHeritage, Family Tree DNA, GedMatch) accept whole genome files. You would need to find a methodology of reducing the files from the whole genome to the autosomal SNPs accepted by the various vendors. If the vendors adopt the digital signature technology recently proposed in this paper by Yaniv Erlich et al to prevent “spoofed files,” modified files won’t be accepted by vendors.

Summary

Whole genome testing, in general, will and won’t provide you with the following:

Desired Feature Whole Genome Testing
Mitochondrial DNA Presumed full haplogroup and mutations provided, but no ability for comparison to other testers. Upload to Family Tree DNA, the only vendor doing comparisons not available.
Y DNA Presume Y chromosome mostly covered, but limited ability for comparison to other testers for either SNPs or STRs. Must utilize either YFull or FGS for SNP/STR analysis. Upload to Family Tree DNA, the vendor with the largest data base not available when testing elsewhere.
Autosomal DNA for genealogy Presume all SNPs covered, but file output needs to be reduced to SNPs offered/processed by vendors accepting transfers (Family Tree DNA, MyHeritage, GedMatch) and converted to their file formats. Modified files may not be accepted in the future.
Medical (consumer interest) Accuracy is a factor of targeted coverage rate and depth of actual reads. Whole genome vendors may or may not provide any analysis or reports. Dante does but for limited number of conditions. Promethease accepts VCF files from vendors and provides more.
Medical (physician accepted) Physician is likely to order a medical genetics test through their own institution. Physicians may not be willing to risk a misdiagnosis due to a factor outside of their control such as an incompatible human genome version.
Files VCF, FASTQ and BAM may or may not be included with results, and may or may not be free.
Coverage Coverage and depth may or may not be adequate. Multiple extractions (from multiple samples) may or may not be included with the initial purchase (if needed) or may be limited. Ask.
Updates Vendors who offer sequencing as a part of a products that include comparison to other testers will update your results version to the current reference version, such as hg38 and mitochondrial V17. Others do not, nor can they be expected to provide that service.
Version Inquire as to the human genome (hg) version or versions available to you, and which version(s) are acceptable to the third party vendors you wish to utilize. When the next version of the human genome is released, your file will no longer be compatible because WGS vendors are offering sequencing only, not results comparisons to databases for genealogy.
Ownership/Usage Who owns your sample? What will it be utilized for, other than the service you ordered, by whom and for what purposes? Will you we able to authorize or decline each usage?
Location Where geographically is your DNA actually being sequenced and stored? What happens to your actual DNA sample itself and the resulting files? This may not be the location where you return your swab kit.

The Question – Will I Order?

The bottom line is that if you are a genealogist, seeking genetic information for genealogical purposes, you’re much better off to test with the standard and well know genealogy vendors who offer compatibility and comparisons to other testers.

If you are a pioneer in this field, have the technical ability required to make use of a whole genome test and are willing to push the envelope, then perhaps whole genome sequencing is for you.

I am considering ordering the Dante Labs whole genome test out of simple curiosity and to upload to Promethease to determine if the whole genome test provides me with something potentially medically relevant (positive or negative) that autosomal and Exome testing did not.

I’m truly undecided. Somehow, I’m having trouble parting with the $199 plus $69 (hard drive delivery by request when ordering) plus shipping for this limited functionality. If I was a novice genetic genealogist or was not a technology expert, I would definitely NOT order this test for the reasons mentioned above.

A whole genome test is not in any way a genealogical replacement for a full sequence mitochondrial test, a Y STR test, a Y SNP test or an autosomal test along with respective comparison(s) in the data bases of vendors who don’t allow uploads for these various functions.

The simple fact that 30X whole genome testing is available for $199 plus $69 plus shipping is amazing, given that 15 years ago that same test cost 2.7 billion dollars. However, it’s still not the magic bullet for genealogy – at least, not yet.

Today, the necessary integration simply doesn’t exist. You pay the genealogy vendors not just for the basic sequencing, but for the additional matching and maintenance of their data bases, not to mention the upgrading of your sequence as needed over time.

If I had to choose between spending the money for the WGS test or taking the genealogy tests, hands down, I’d take the genealogy tests because of the comparisons available. Comparison and collaboration is absolutely crucial for genealogy. A raw data file buys me nothing genealogically.

If I had not previously taken an Exome test, I would order this test in order to obtain the free Dante Health and Wellness Report which provides limited reporting and to upload my raw data file to Promethease. The price is certainly right.

However, keep in mind that once you view health information, you cannot un-see it, so be sure you do really want to know.

What do you plan to do? Are you going to order a whole genome test?

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Disclosure

I receive a small contribution when you click on some (but not all) 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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Family Tree DNA’s Y-500 is Free for Big Y Customers

Did you notice something new on your Y DNA results page at Family Tree DNA this week? If not quite yet, you will soon if you have taken the Big Y test. There’s a surprise waiting for you. You can sign in here to take a look.

The first thing you might notice is that the Big Y has been renamed to the Big Y500. However, the results I want you to take a look at aren’t under the Big Y500 tab, but on your regular Y DNA Y-STR Results tab. Click to take a look

In the past, 5 panels of Y DNA STR markers have been available:

  • Panel 1 – 1-12 markers
  • Panel 2 – 13-25 markers
  • Panel 3 – 26-37 markers
  • Panel 4 – 38-67 markers
  • Panel 5 – 68-111 markers

Now, a 6th panel has been added:

  • Panel 6 – 112-550 markers

However, there is a difference between the first 5 panels and the 6th panel.

Why is it Called the Y500?

If there is a total of 550 markers reported, why is this product called the Y500?

That’s a great question with an even greater answer.

Family Tree DNA actually tests for a total of 550 markers. Values for markers between 112 and 550 are provided FOR FREE when you take a Big Y test.

Family Tree DNA guarantees that you will receive at least a total of 500 markers, or they will rerun your Big Y test at no cost to you to obtain enough additional markers to reach 500. (The 500 number assumes that you have all 111 STR markers. If you have not tested all of the STR panels, the number will be lower by the number of STR values you haven’t tested. This means that if you took the Y67, but not the Y111, your 500 guarantee number would be 500-44, where 44 is the number of markers in the Y111 panel that you have not yet ordered.)

The best part?

The markers above 111 are ENTIRELY FREE with a Big Y test – for both existing customers who have already taken that test, and all future customers too. Yes, you read that right. If you took the Big Y previously, you are receiving the markers in panel 6, 112-550 absolutely free.

How does it get better than free?

The Big Y Uses a Different Technology

There is a difference between the first 111 markers and the markers from 112-550, meaning that they are read using different technologies

The results for the first 111 STR markers are produced using a technology that targets these specific areas and is very accurate.

The results for the 112-550 markers is produced using next generation sequencing (NGS) on a different testing platform than the Y-111 results. NGS, utilized for the Big Y, scans the Y chromosome rather than targeting specific locations. This scanning process is repeated several times, with values at specific locations recorded.

Scanning

Using NGS technology, your DNA is scanned multiple times, with the number of scans, such as 25 or 30, referred to as the coverage level. The goal is for multiple/most/all scans to find the same value at the same location consistently. Because of the nature of scanning technology, this sometimes doesn’t happen, for various reasons, including “no-calls” which is when for some reason, the scans simply can’t get a reliable read at that location in your DNA. No calls are typical and occur at low levels in everyone’s scan.

Here’s an example from a Big Y scan viewing the actual results using the Big Y chromosome browser.

The blue bars are forward reads and the green bars are reverse reads. Dark blue and dark green bars indicate high quality scans. Medium blue and green are medium quality scans and faintly colored bars indicate poor quality. If you take a look at where the little black arrow at the top is pointing, you can see that a T is the expected value at that location.

When the expected value as determined in the human reference genome is found at that location, nothing is recorded in that column. However, when a different result is discovered, like A in this case, it’s noted and highlighted with pink. We can see that there are 5 As on forward and reverse strands of high quality, then a low quality read, 6 more high quality reads, followed by two reads that show the expected value (nothing recorded) and then three more high quality A reads.

The goal is to determine what actual value resides at that location, and when that value is determined, it’s referred to as a “call.”

For a “call” to be made, meaning the determination of the actual value in that position, the person or software making the call must take several quality factors into consideration.

In this case, the number of high quality reads indicating the derived (mutation) value of “A” allows this location to be definitively called as “A.” Because several other men previously tested have A at this location, a SNP name has already been assigned to this mutation – in this case, A126 in haplogroup R.

However, if you look to the right and left of the arrow to the next two browser locations that contain mutations, you can see in both cases that there are less than half of the column locations that are marked as pink with derived values (mutations), meaning those not expected when compared to the reference model.

These types of locations which are neither clearly ancestral (reference model) nor derived values are when value judgements come into play in terms of deciding which value, the ancestral or derived, is actually present in the DNA of the person being tested.

Some people will call a SNP with only one mutation reported out of 20 or 30 scans. Some people will call a SNP with 2 scans; some with 5, and so forth. Generally, Family Tree DNA uses a minimum threshold of 5 high quality scans to call a mutation value.

Now, let’s talk about how STR values, meaning results displayed in those locations between 112-550, are found in your Big Y NGS data file. You can read about the difference between SNPs and STRs in the article, STRs vs SNPs, Multiple DNA Personalities.

STRs

Short tandem repeats, known as STR values, are the numbers reported in your STR panels. These are stutters of DNA, kind of like the copy machine got stuck in that one area for a few copies.

For example, in haplogroup R, for this person, the value of 13, meaning 13 repeats of a particular sequence, is found at marker DYS393.

Repeated sequences are in essence inserted in-between SNPs in some DNA regions, and the number of repeats reported in STR marker panels is the number of stutters, or repeats, of a particular repeated sequence.

That sounds simpler than it is, because how to count a sequence isn’t always the same. Let’s look at an example showing 20 consecutive DNA positions.

The actual values are shown in the value row. However, these values can be counted in a number of different ways. I’ve also added a “stray read” at location 13 which causes confusion.

At location 13, we show a value of G which does not fit into the repeat pattern. How do we interpret that, and what do we do with it?

The repeat pattern itself is a matter of where you start counting, and how you count.

I’ve color coded the repeats with blue and yellow. Incomplete repeats are red. The stray G in location 13 is green, because it breaks the repeat sequence.

In example 1, we start counting with T in position 1, and there are clearly 3 repeated groups of TACG before we hit our stray G in position 13, which stops the repeat pattern. However, after the stray G, there is one more full repeat sequence of TACG. Do we ignore the G and count the 4th TACG as part of the group, or do we count only the first 3 complete TACG sequences? The total number of repeats could be counted as either 3 or 4, depending on how we interpret the stray G in location 13.

In example 2, we start counting with the GTAC, because I was simulating a reverse read where we start at the end and work backwards. In this case, we clearly have 2 reads, then our stray G which occurs in the middle of a read. Do we ignore that stray G and call the rest of the blue GTAC surrounding the G as a repeat? That blue repeat group is followed by another yellow group. Do we count it at all, or do we simply stop with the marker count of 2 because the G is in the way and breaks the sequence? This repeat sequence could be counted as either 2, 3 or 4, depending on what you do with the G and the following sequence group, both.

Examples 3 and 4 follow the same concept and have the same questions.

All STR sequences face the issue of where to start reading. Where you begin reading can affect the number of repeat counts you wind up with, even without our stray G in position 13.

STR markers obtained from NGS sequencing face this same challenge, but it’s complicated by the issue of no-reads and the call variance that we saw in the chromosome browser where the same location is sometimes called differently on different scans, meaning we really can’t tell which is the actual value. What do we do with those?

All of this is complicated by the fact that some regions of the Y chromosome simply do not produce valid or reliable information. Different (groups of) people define this unreliable region as starting and ending in different locations. Therefore different people analyzing the same information often arrive at different answers to the same question or use marker locations that others don’t.

I suspect all of this may fall into the category of trivia you never wanted to know, but now you’ll understand why you may find different (sometimes strongly held) opinions of what is “right” when two geeky types are arguing strongly about a particular STR value as your eyes glaze over…

Here’s the bottom line – if you’re using results called by the same vendor, you don’t have to worry about whether you and someone else are being accurately compared. You and everyone else at that vendor will have your results reported using the same technology and calling methodology.

Family Tree DNA has always taken a more conservative approach, because they only want to report to customers what they know to be accurate.

You will not see low confidence values on your reports, nor calls from an unreliable region. Genealogists cannot reach reliable genealogical conclusions using unreliable data.

The Big Y 500

Because of the nature of scanned STR results, Family Tree DNA can’t guarantee that you will have a reliable read at every location. In fact, few people will have values at every location. The technology for the Y-111 markers provides a very high level of accuracy and Family Tree DNA will provide results for every 1-111 location unless you actually have a deletion, meaning no DNA in that location. However, the values of markers 112-550 are taken from the Big Y NGS scan.

Therefore, some Big Y customers will have a few markers above 111 that show a “-“ instead of results, such as FTY945 and FTY1025, shown below. A value of “0” found in markers 1-111 means that there is actually no DNA in that location, and it’s not a read error. No DNA at a specific location is heritable, meaning it can serve as a line-marker mutation, while a “no call” means that the scan couldn’t read that genetic address. No calls cannot be compared to others and should be ignored.

Before someone starts to complain about having markers with “no reads,” remember that Family Tree DNA is providing up to 439 additional markers available FOR FREE to customers who have taken (or will take) the Big Y test.

That’s right, there is no charge for these new markers. You are guaranteed 389 additional markers, but you may actually receive as many as 439, depending on how well your DNA reads. The kits I’ve checked have only been missing a couple of marker values, so these kits received 437 additional markers, far above the guaranteed 389.

Right now, matching is not included for the 112-550 markers. Matching above 111 markers may be challenging because while Family Tree DNA does guarantee that you’ll have at least 389 new marker values, those won’t be the same markers above 111 for everyone. In a worst-case scenario, you could mismatch with someone on as many as 100 markers above 111 panel, simply because both you and the person you are matching against are both missing 50 different markers each, for a total of 100 markers mismatching.

Additionally, not everyone has tested all 111 STR markers, and you will receive your 112-550 values if you have taken the Big Y test regardless of whether or not you’ve tested all 111 STR markers.

Matching

Matching on the first 111 markers is reliable because you will have an accurate value, even if the value is 0. Having no DNA at a specific location is a valid result and can be compared to other testers.

With different markers between 112 and 550 missing for different men, matching becomes very tricky. Specifically, how do we interpret mismatches? How many mismatches to we allow to still be considered a reasonable match?

Matching is an entirely different prospect when integrating the markers between 112 and 550 into the equation with a potential of up to 100 mismatching locations in that range simply from no-reads.

I had presumed that Family Tree DNA would offer matching on these additional markers. Presume is a dangerous word, I know. Matching is not offered right now, and given the complexities, I don’t know if matching as we know it will be the future or not, how reliable it would be, or how Family Tree DNA would compensate for the missing STR information that differs with each person’s test.

Furthermore, I’m not quite sure what they would do with two men who haven’t both tested to the same STR level, meaning panels 1-5, but have taken the Big Y so have values for 112-550.

Big Y Purchases

Here’s the status of Big Y tests, today:

  • New Big Y purchase if you have done no Y DNA testing at all – you will now be able to purchase a Big Y without having to previously purchase any STR markers. The 111 STR markers are now bundled into the Big Y purchase, which makes the Big Y appear more expensive than before when the STR markers had to be purchased separately before you could order a Big Y test. The Big Y plus all 111 STR markers is now $649 during the DNA Day Sale, regularly $799.
  • Already tested through 111 STRs – the Big Y is only $349 on sale right now, and $449 regularly, both significantly discounted from just a few months ago.
  • Existing customers who have taken some level of Y STR test but not the Big Y – will have to upgrade their STR test to the 111 level when ordering the Big Y. Those tests are discounted appropriately, shown in the table below.
  • Existing customers who have not tested their STR markers to 111, but have already taken the Big Y – will receive marker values from 112-550. However, they will only receive the Y STR markers below 112 for panels they have paid for. This means that if you have only tested to 37 markers, you will have results for locations 1-37, not for 38-111, but will have results for locations that read from 112-550. This would be the perfect time to upgrade so that you have a complete marker set.

Right now, Family Tree DNA is having their DNA Day Sale and it’s a great time to purchase a Big Y or to upgrade your STR markers if you don’t have the full 111. The sale pricing shown is valid through April 28th. You can click here to order.

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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

 

Working with Y DNA – Your Dad’s Story

Have you ever wondered why you would want to test your Y DNA? What would a Y DNA test tell you about which ancestors? What would it mean to you and how would it help your genealogy?

If you’re like most genealogists, you want to know every single tidbit you can discover about your ancestors – and Y DNA not only tells males about people they match that are currently living and share ancestors with them at some point in time, but it also reaches back beyond the range of what genealogy in the traditional sense can tell us – past the time when surnames were adopted, peering into the misty veil of the past!

If you aren’t a male, you can’t directly test your Y DNA, because you don’t have a Y chromosome, but that’s OK, because your father or brother or another family member who does carry the same Y chromosome (and surname) as your father may well be willing to test.

What Is Y DNA?

Y DNA a special type of DNA that tells the direct story of your father’s surname line heritage – all the way back as far as we can go – beyond genealogy– to the man from whom we are all descended that we call “Y line Adam.” In the pedigree chart below, Y DNA is represented by the people with blue squares – generally the surname line.

Y DNA is never mixed with the mother’s DNA, so the Y DNA of the blue line of ancestors above remains unbroken and intact and the Y DNA is passed from father to only their male children. The Y chromosome is what makes males male, so females never inherit a Y chromosome. Of course, that means females can’t take Y DNA tests, so they have to ask a family member to test who carries the Y chromosome of the line they are interested in.

Because the surname doesn’t typically change for males between generations, this test is particularly powerful in identifying specific lineages of the male’s surname.  For men looking to identify their paternal line, Y DNA testing is extremely powerful!

Y DNA testing is a great way to determine which ancestral line of a given surname a male descends from.

Want to see how this works?  Family Tree DNA provides 13 great tools for every Y DNA customer. Let’s take a look!

Haplogroup

Everyone who tests their Y DNA at Family Tree DNA receives a haplogroup assignment. Think of a haplogroup as your genetic clan. Haplogroups have a history and a pedigree chart, just like people do. Haplogroups and their branches can identify certain groups of people, such as people of African descent, European, Asian, Jewish and Native American.

While the Y DNA is passed intact with no admixture from the mother, occasionally mutations do happen, and it’s those historical mutations that form clans and branches of clans as generation after generation is born and continues to migrate to new areas.

If you take any Y DNA test at Family Tree DNA, you will receive a haplogroup prediction. In the following example, the gentleman received haplogroup C-P39 as his haplgroup prediction.

Haplogroup predictions from Family Tree DNA are very accurate. They are basic in nature, but detailed enough to identify the continent where your ancestors are found as well as sometimes identifying groups like Jewish or Native American. To receive a more refined haplogroup, additional tests are available (individual SNPs, SNP panels and the Big Y), which confirm the original haplogroup assignment and give you the opportunity to find the smallest branch of the haplotree upon which you reside as a leaf.

Let’s look at an example.

Y haplogroup C arose in Asia and subgroups are found today in parts of Asia, Europe and among Native American men.

Recently, by utilizing the Big Y test, an advanced specialized test that scans the majority of the Y chromosome for mutations, the haplogroup C tree was extended by several branches at Family Tree DNA.

With regular STR marker testing, which is the Y DNA test you purchase from Family Tree DNA,  this particular haplogroup C male had his base haplogroup of C identified along with the additional branch of C-P39. With additional advanced testing of some type, such as individual SNP testing, panels of SNPs available for some haplogroups, or the Big Y test – testers can learn more about their haplogroups – and with the Big Y, virtually everything there is to know about their Y chromosome.

However, until testers receive their regular STR results for their markers, advanced tests aren’t available to order, because testers don’t yet know into which haplogroup, or clan, they will be placed.

The haplogroup C Y-DNA project at Family Tree DNA provides a map of the most distant known ancestors of Haplogroup C members, including all branches, shown below.

Hapologroup C-P39, a Native American subgroup, is found in a much more restricted geography in the Haplogroup C-P39 project, below.

Tools at Family Tree DNA

At Family Tree DNA, your Y haplogroup is shown in the upper right hand corner on your personal page dashboard.

In the Y DNA section, additional tools are shown. Let’s look at each tool and what it can tell you about your direct paternal line.

You can always navigate to the Dashboard or any other option by clicking on the myFTDNA button on the upper left hand corner and then the Y DNA dropdown.

Matches

The first place most people look is at their Matches page. In the case of our example, he has twenty three 111 marker matches ranging from one person with a genetic distance of 1, meaning one mutation difference, to several with 6 mutations difference. The fewer mutations, in general, the most likely the closer in time your most recent common ancestor with your match.

You can see by just looking at the matches below why entering the name of your earliest known ancestor (under Manage Personal Information, Account Settings, Genealogy) is so important!!! That’s the first thing people see and the best indication of a common ancestor. I always include a name, birth/death date and location.

In this case, it’s very clear the common ancestor of most, if not all, of these men is Germain Doucet born in 1641 in Port Royal, Nova Scotia. And before you ask, yes, it’s rather unusual to have an entire list of men descended from one man, but it’s clearly not unheard of.

As you can see, many of these matches (names obscured for privacy) have trees attached to their results and several have also taken the autosomal Family Finder test.

The different Y-DNA haplogroups listed to the right are a function of the “Terminal SNP,” meaning the SNP that tested positive furthest out towards the tip of the branch of the tree. Four matches have had additional SNP testing which shows their terminal SNP to be either Z30754 or M217.

This gentleman can then view his 67, 37, 25 and 12 marker matches by clicking on that dropdown.

He can also e-mail any of his matches by clicking on the envelope icon or view their trees by clicking on the pedigree icon.

Results

Next, let’s look at the Y-STR results for 67 markers. This page should really probably say “raw results,” because as many people say, “it’s just a page of numbers.”

This page shows your values and mutations at specific markers – in other words, what makes you both different from other people and the same as people you match, which means you share a common ancestor at some point in time in the not too distant past.

The beauty of these numbers, is, of course, in what they tell us in context of matching other people. You can’t have matches without these numbers. You also can’t have maps or anything else without the raw mutation information.

HaploTree and SNP Page

STR markers show mutations in recent timeframes, generally within the past 500-800 years, but SNPs take you back into antiquity – just like your family pedigree chart – working from closest to further back in time .

Your Haplotree and SNP page shows you the tree for your haplogroup – in this case C – designated by SNP M216, shown at the very top, along with all branches of the tree. The branches and leaves are color coded based on whether you have tested for that particular SNP, and if so, whether you were positive, meaning you carry the mutation, or negative, meaning you don’t.

SNP Map

The SNP map shows you cluster locations worldwide where any selected SNP is found.

Matches Maps

One of my favorite tools is the Matches Map because it shows the most distant ancestor for all of your matches that have provided that information.

Hint: you MUST enter the geographic information through the link at the bottom of this map (below) for YOUR ancestor to be displayed on THIS map and also on the maps of your matches.

You can also display your match list by clicking on the link beneath the map. You can click on the pins on the map to display the accompanying information.

Note the legend, as your exact matches are shown in red, 1 step mutations in orange, 2 steps in yellow, and so forth. Be sure to look for clusters, and note that if there are multiple people listed in the same location, their pins will stack on top of each other.

For example, in this case, the orange pin shown has two people’s ancestors in that location, including this tester, and a relevant cluster is clearly shown in Nova Scotia.

Migration and Frequency Maps

Are you wondering how your ancestor and his ancestors arrived where you first find them?

The haplogroup Migration Maps shows you the path from Africa to wherever they are found – in this case, the Americas.

The Frequency Map then shows you how much of the New World population is branches of haplogroup C.

Haplogroup Origins

The Haplogroup Origins tool shows the distribution of the haplogroup, by region, by match type and count.  Please note that you can click on any graphic to enlarge.

For example, this person has one 111 marker C-Z30765 match in Canada.

Ancestral Origins

The Ancestral Origins page shows matches by country along with any comments. These matches don’t have any comments, but comments might be Ashkenazi or MDKO (most distant known origin) when US is given.

Advanced Matching Combines Tools

Another of my favorite tools is the Advanced Matching tool, available under the Tools and Apps tab.

Advanced Matches is a wonderful tool that allows you to combine test types. For example, let’s say that you want to know if any of the people you match on the Y DNA test are also showing up as a match on the Family Finder test. You could further limit match results by project as well.

Be sure to click on “show only people I match in all selected tests” or you’ll receive the combined list of all matches, not just the people who match on BOTH tests, which is what you want.

In this example, I’ve selected 12 markers and Family Finder, because I know I’m going to find a few matches for illustration.

Of course, for adoptees, finding someone with whom you match closely on the Family Finder test AND match exactly (or nearly) on the Y DNA test would be very suggestive of a patrilineal common ancestor in a recent timeframe.

Projects

We started our discussion about Y DNA haplogroups by referencing two different haplogroup C projects. Family Tree DNA has over 9000 projects for you to select from.  The good news is that you really don’t have to limit your selections, because you can join an unlimited number of projects.

Thankfully, you don’t have to browse through all the available projects.

  • Haplogroup projects are categorized by Y or mtDNA and then by subgroup where appropriate.
  • Surname projects exist as well and are searchable for your genealogy lines.
  • Geographical projects cover everything else, from geographies such as the Denmark project to the American Indian project.

Some projects focus on Y DNA, some on mtDNA and some include both.  Additionally, some projects welcome people with autosomal results that pertain to that family surname or region.  Every project is run by one or more volunteer administrators that define the focus of the project.

To help people select relevant projects, project administrators can enter surnames that pertain to their project so that Family Tree DNA can match your surname to the project list to provide you with a menu of candidate projects to join.

Of course, you’ll need to read the project description for each project to see if the project actually pertains to you. You can see what is available for other surnames by utilizing the “Search by Surname” function, at the bottom of the menu.

You can also scroll down and browse in a number of ways in addition to surname.

All testers should join their haplogroup project so that everyone can benefit from collaboration.

You can join and manage your projects from your home page by clicking on the Projects tab on the upper left, shown below.

Y DNA Summary

I hope this overview has provided you with some good reasons to test your Y DNA or to better understand your results if you’ve already tested.

If you are a male and are interested in testing a line that is not your surname line, or if you are a female and you can’t test, you can find a male who descends from the ancestral line in question through all males and recruit that gentleman to test.  You can also check existing surname projects to see if someone from your line has already tested.

Y DNA holds the secrets of your patrilineal line. You never know what you don’t know unless you test. You don’t know what kind of surprises are waiting for you – and let’s face it, our ancestors are always full of surprises!

Y DNA Order Options

Family Tree DNA is the only company that offers this type of testing.  Ordering options include 37, 67 and 111 marker tests. You can also order 12 and 25 marker tests within projects. I suggest testing at the highest level the budget will allow, but no less than 37 markers. Most people have matches. Some people have a lot of matches and need the 111 marker test to more fully refine their matches to just the ones that may be genealogically relevant.

You can always upgrade later to a higher marker level later, but the combined original test plus upgrade cost more separately than just purchasing the larger test out the gate. It’s really a personal decision based on your goals and your budget.

Discounts

If you have never tested at Family Tree DNA, you can obtain a discount any day of the week by joining through your surname project. Just click here and then enter your surname into the Project Search box, shown upper right below.  I’ve typed Estes for purposes of illustration.

You will be shown a list of projects (at left above) where the various project administrators have indicated that someone with your surname might be interest in their project. Read the project descriptions, then click on the resulting project that best suits your situation – generally your surname – Estes above for example. You will automatically be joined to the project you select when you order a product, shown below. After you order, you can join multiple projects.

Next, click on the test level you wish to order.

By virtue of comparison, the project pricing for 37, 67 and 111 markers, above, saves you $20 off the regular price if you don’t order through a project.

If you already have a kit number at Family Tree DNA and have ordered other products, you can sign in, upgrade and order your Y DNA test by clicking here.

Happy ancestor hunting!

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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

Which DNA Test is Best?

If you’re reading this article, congratulations. You’re a savvy shopper and you’re doing some research before purchasing a DNA test. You’ve come to the right place.

The most common question I receive is asking which test is best to purchase. There is no one single best answer for everyone – it depends on your testing goals and your pocketbook.

Testing Goals

People who want to have their DNA tested have a goal in mind and seek results to utilize for their particular purpose. Today, in the Direct to Consumer (DTC) DNA market space, people have varied interests that fall into the general categories of genealogy and medical/health.

I’ve approached the question of “which test is best” by providing information grouped into testing goal categories.  I’ve compared the different vendors and tests from the perspective of someone who is looking to test for those purposes – and I’ve created separate sections of this article for each interest..

We will be discussing testing for:

  • Ethnicity – Who Am I? – Breakdown by Various World Regions
  • Adoption – Finding Missing Parents or Close Family
  • Genealogy – Cousin Matching and Ancestor Search/Verification
  • Medical/Health

We will be reviewing the following test types:

  • Autosomal
  • Y DNA (males only)
  • Mitochondrial DNA

I have included summary charts for each section, plus an additional chart for:

  • Additional Vendor Considerations

If you are looking to select one test, or have limited funds, or are looking to prioritize certain types of tests, you’ll want to read about each vendor, each type of test, and each testing goal category.

Each category reports information about the vendors and their products from a different perspective – and only you can decide which of these perspectives and features are most important to you.

You might want to read this short article for a quick overview of the 4 kinds of DNA used for genetic genealogy and DTC testing and how they differ.

The Big 3

Today, there are three major players in the DNA testing market, not in any particular order:

Each of these companies offers autosomal tests, but each vendor offers features that are unique. Family Tree DNA and 23andMe offer additional tests as well.

In addition to the Big 3, there are a couple of new kids on the block that I will mention where appropriate. There are also niche players for the more advanced genetic genealogist or serious researcher, and this article does not address advanced research.

In a nutshell, if you are serious genealogist, you will want to take all of the following tests to maximize your tools for solving genealogical puzzles. There is no one single test that does everything.

  • Full mitochondrial sequence that informs you about your matrilineal line (only) at Family Tree DNA. This test currently costs $199.
  • Y DNA test (for males only) that informs you about your direct paternal (surname) line (only) at Family Tree DNA. This test begins at $169 for 37 markers.
  • Family Finder, an autosomal test that provides ethnicity estimates and cousin matching at Family Tree DNA. This test currently costs $89.
  • AncestryDNA, an autosomal test at Ancestry.com that provides ethnicity estimates and cousin matching. (Do not confuse this test with Ancestry by DNA, which is not the same test and does not provide the same features.) This test currently costs $99, plus the additional cost of a subscription for full feature access. You can test without a subscription, but nonsubscribers can’t access all of the test result features provided to Ancestry subscribers.
  • 23andMe Ancestry Service test, an autosomal test that provides ethnicity estimates and cousin matching. The genealogy version of this test costs $99, the medical+genealogy version costs $199.

A Word About Third Party Tools

A number of third party tools exist, such as GedMatch and DNAGedcom.com, and while these tools are quite useful after testing, these vendors don’t provide tests. In order to use these sites, you must first take an autosomal DNA test from a testing vendor. This article focuses on selecting your DNA testing vendor based on your testing goals.

Let’s get started!

Ethnicity

Many people are drawn to DNA testing through commercials that promise to ‘tell you who you are.” While the allure is exciting, the reality is somewhat different.

Each of the major three vendors provide an ethnicity estimate based on your autosomal DNA test, and each of the three vendors will provide you with a different result.

Yep, same person, different ethnicity breakdowns.

Hopefully, the outcomes will be very similar, but that’s certainly not always the case. However, many people take one test and believe those results wholeheartedly. Please don’t. You may want to read Concepts – Calculating Ethnicity Percentages to see how varied my own ethnicity reports are at various vendors as compared to my known genealogy.

The technology for understanding “ethnicity” from a genetic perspective is still very new. Your ethnicity estimate is based on reference populations from around the world – today. People and populations move, and have moved, for hundreds, thousands and tens of thousands of years. Written history only reaches back a fraction of that time, so the estimates provided to people today are not exact.

That isn’t to criticize any individual vendor. View each vendor’s results not as gospel, but as their opinion based on their reference populations and their internal proprietary algorithm of utilizing those reference populations to produce your ethnicity results.

To read more about how ethnicity testing works, and why your results may vary between vendors or not be what you expected, click here.

I don’t want to discourage anyone from testing, only to be sure consumers understand the context of what they will be receiving. Generally speaking, these results are accurate at the continental level, and less accurate within continents, such as European regional breakdowns.

All three testing companies provide additional features or tools, in addition to your ethnicity estimates, that are relevant to ethnicity or population groups.

Let’s look at each company separately.

Ethnicity – Family Tree DNA

Family Tree DNA’s ethnicity tool is called myOrigins and provides three features or tools in addition to the actual ethnicity estimate and associated ethnicity map.

Please note that throughout this article you can click on any image to enlarge.

On the myOrigins ethnicity map page, above, your ethnicity percentages and map are shown, along with two additional features.

The Shared Origins box to the left shows the matching ethnic components of people on your DNA match list. This is particularly useful if you are trying to discover, for example, where a particular minority admixture comes from in your lineage. You can select different match types, for example, immediate relatives or X chromosome matches, which have special inheritance qualities.

Clicking on the apricot (mitochondrial DNA) and green (Y DNA) pins in the lower right corner drops the pins in the locations on your map of the most distant ancestral Y and mitochondrial DNA locations of the individuals in the group you have selected in the Shared Origins match box. You may or may not match these individuals on the Y or mtDNA lines, but families tend to migrate in groups, so match hints of any kind are important.

A third unique feature provided by Family Tree DNA is Ancient Origins, a tool released with little fanfare in November 2016.

Ancient Origins shows the ancient source of your European DNA, based on genome sequencing of ancient DNA from the locations shown on the map.

Additionally, Family Tree DNA hosts an Ancient DNA project where they have facilitated the upload of the ancient genomes so that customers today can determine if they match these ancient individuals.

Kits included in the Ancient DNA project are shown in the chart below, along with their age and burial location. Some have matches today, and some of these samples are included on the Ancient Origins map.

Individual Approx. Age Burial Location Matches Ancient Origins Map
Clovis Anzick 12,500 Montana (US) Yes No
Linearbandkeramik 7,500 Stuttgart, Germany Yes Yes
Loschbour 8,000 Luxembourg Yes Yes
Palaeo-Eskimo 4,000 Greenland No No
Altai Neanderthal 50,000 Altai No No
Denisova 30,000 Siberia No No
Hinxton-4 2,000 Cambridgeshire, UK No No
BR2 3,200 Hungary Yes Yes
Ust’-Ishim 45,000 Siberia Yes No
NE1 7,500 Hungary Yes Yes

Ethnicity – Ancestry

In addition to your ethnicity estimate, Ancestry also provides a feature called Genetic Communities.

Your ethnicity estimate provides percentages of DNA found in regions shown on the map by fully colored shapes – green in Europe in the example above. Genetic Communities show how your DNA clusters with other people in specific regions of the world – shown with dotted clusters in the US in this example.

In my case, my ethnicity at Ancestry shows my European roots, illustrated by the green highlighted areas, and my two Genetic Communities are shown by yellow and red dotted regions in the United States.

My assigned Genetic Communities indicate that my DNA clusters with other people whose ancestors lived in two regions; The Lower Midwest and Virginia as well as the Alleghenies and Northeast Indiana.

Testers can then view their DNA matches within that community, as well as a group of surnames common within that community.

The Genetic Communities provided for me are accurate, but don’t expect all of your genealogical regions to be represented in Genetic Communities. For example, my DNA is 25% German, and I don’t have any German communities today, although ancestry will be adding new Genetic Communities as new clusters are formed.

You can read more about Genetic Communities here and here.

Ethnicity – 23andMe

In addition to ethnicity percentage estimates, called Ancestry Composition, 23andMe offers the ability to compare your Ancestry Composition against that of your parent to see which portions of your ethnicity you inherited from each parent, although there are problems with this tool incorrectly assigning parental segments.

Additionally, 23andMe paints your chromosome segments with your ethnic heritage, as shown below.

You can see that my yellow Native American segments appear on chromosomes 1 and 2.

In January 2017, 23andMe introduced their Ancestry Timeline, which I find to be extremely misleading and inaccurate. On my timeline, shown below, they estimate that my most recent British and Irish ancestor was found in my tree between 1900 and 1930 while in reality my most recent British/Irish individual found in my tree was born in England in 1759.

I do not view 23andMe’s Ancestry Timeline as a benefit to the genealogist, having found that it causes people to draw very misleading conclusions, even to the point of questioning their parentage based on the results. I wrote about their Ancestry Timeline here.

Ethnicity Summary

All three vendors provide both ethnicity percentage estimates and maps. All three vendors provide additional tools and features relevant to ethnicity. Vendors also provide matching to other people which may or may not be of interest to people who test only for ethnicity. “Who you are” only begins with ethnicity estimates.

DNA test costs are similar, although the Family Tree DNA test is less at $89. All three vendors have sales from time to time.

Ethnicity Vendor Summary Chart

Ethnicity testing is an autosomal DNA test and is available for both males and females.

Family Tree DNA Ancestry 23andMe
Ethnicity Test Included with $89 Family Finder test Included with $99 Ancestry DNA test Included with $99 Ancestry Service
Percentages and Maps Yes Yes Yes
Shared Ethnicity with Matches Yes No Yes
Additional Feature Y and mtDNA mapping of ethnicity matches Genetic Communities Ethnicity phasing against parent (has issues)
Additional Feature Ancient Origins Ethnicity mapping by chromosome
Additional Feature Ancient DNA Project Ancestry Timeline

 

Adoption and Parental Identity

DNA testing is extremely popular among adoptees and others in search of missing parents and grandparents.

The techniques used for adoption and parental search are somewhat different than those used for more traditional genealogy, although non-adoptees may wish to continue to read this section because many of the features that are important to adoptees are important to other testers as well.

Adoptees often utilize autosomal DNA somewhat differently than traditional genealogists by using a technique called mirror trees. In essence, the adoptee utilizes the trees posted online of their closest DNA matches to search for common family lines within those trees. The common family lines will eventually lead to the individuals within those common trees that are candidates to be the parents of the searcher.

Here’s a simplified hypothetical example of my tree and a first cousin adoptee match.

The adoptee matches me at a first cousin level, meaning that we share at least one common grandparent – but which one? Looking at other people the adoptee matches, or the adoptee and I both match, we find Edith Lore (or her ancestors) in the tree of multiple matches. Since Edith Lore is my grandmother, the adoptee is predicted to be my first cousin, and Edith Lore’s ancestors appear in the trees of our common matches – that tells us that Edith Lore is also the (probable) grandmother of the adoptee.

Looking at the possibilities for how Edith Lore can fit into the tree of me and the adoptee, as first cousins, we fine the following scenario.

Testing the known child of daughter Ferverda will then provide confirmation of this relationship if the known child proves to be a half sibling to the adoptee.

Therefore, close matches, the ability to contact matches and trees are very important to adoptees. I recommend that adoptees make contact with www.dnaadoption.com. The volunteers there specialize in adoptions and adoptees, provide search angels to help people and classes to teach adoptees how to utilize the techniques unique to adoption search such as building mirror trees.

For adoptees, the first rule is to test with all 3 major vendors plus MyHeritage. Family Tree DNA allows you to test with both 23andMe and Ancestry and subsequently transfer your results to Family Tree DNA, but I would strongly suggest adoptees test on the Family Tree DNA platform instead. Your match results from transferring to Family Tree DNA from other companies, except for MyHeritage, will be fewer and less reliable because both 23andMe and Ancestry utilize different chip technology.

For most genealogists, MyHeritage is not a player, as they have only recently entered the testing arena, have a very small data base, no tools and are having matching issues. I recently wrote about MyHeritage here. However, adoptees may want to test with MyHeritage, or upload your results to MyHeritage if you tested with Family Tree DNA, because your important puzzle-solving match just might have tested there and no place else. You can read about transfer kit compatibility and who accepts which vendors’ tests here.

Adoptees can benefit from ethnicity estimates at the continental level, meaning that regional (within continent) or minority ethnicity should be taken with a very large grain of salt. However, knowing that you have 25% Jewish heritage, for example, can be a very big clue to an adoptee’s search.

Another aspect of the adoptees search that can be relevant is the number of foreign testers. For many years, neither 23andMe, nor Ancestry tested substantially (or at all) outside the US. Family Tree DNA has always tested internationally and has a very strong Jewish data base component.

Not all vendors report X chromosome matches. The X chromosome is important to genetic genealogy, because it has a unique inheritance path. Men don’t inherit an X chromosome from their fathers. Therefore, if you match someone on the X chromosome, you know the relationship, for a male, must be from their mother’s side. For a female, the relationship must be from the mother or the father’s mother’s side. You can read more about X chromosome matching here.

Neither Ancestry nor MyHeritage have chromosome browsers which allow you to view the segments of DNA on which you match other individuals, which includes the X chromosome.

Adoptee Y and Mitochondrial Testing

In addition to autosomal DNA testing, adoptees will want to test their Y DNA (males only) and mitochondrial DNA.

These tests are different from autosomal DNA which tests the DNA you receive from all of your ancestors. Y and mitochondrial DNA focus on only one specific line, respectively. Y DNA is inherited by men from their fathers and the Y chromosome is passed from father to son from time immemorial. Therefore, testing the Y chromosome provides us with the ability to match to current people as well as to use the Y chromosome as a tool to look far back in time. Adoptees tend to be most interested in matching current people, at least initially.

Working with male adoptees, I have a found that about 30% of the time a male will match strongly to a particular surname, especially at higher marker levels. That isn’t always true, but adoptees will never know if they don’t test. An adoptee’s match list is shown at 111 markers, below.

Furthermore, utilizing the Y and mitochondrial DNA test in conjunction with autosomal DNA matching at Family Tree DNA helps narrows possible relatives. The Advanced Matching feature allows you to see who you match on both the Y (or mitochondrial) DNA lines AND the autosomal test, in combination.

Mitochondrial DNA tests the matrilineal line only, as women pass their mitochondrial DNA to all of their children, but only females pass it on. Family Tree DNA provides matching and advanced combination matching/searching for mitochondrial DNA as well as Y DNA. Both genders of children carry their mother’s mitochondrial DNA. Unfortunately, mitochondrial DNA is more difficult to work with because of the surname changes in each generation, but you cannot be descended from a woman, or her direct matrilineal ancestors if you don’t substantially match her mitochondrial DNA.

Some vendors state that you receive mitochondrial DNA with your autosomal results, which is only partly accurate. At 23andMe, you receive a haplogroup but no detailed results and no matching. 23andMe does not test the entire mitochondria and therefore cannot provide either advanced haplogroup placement nor Y or mitochondrial DNA matching between testers.

For additional details on the Y and Mitochondrial DNA tests themselves and what you receive, please see the Genealogy – Y and Mitochondrial DNA section.

Adoption Summary

Adoptees should test with all 4 vendors plus Y and mitochondrial DNA testing.

  • Ancestry – due to their extensive data base size and trees
  • Family Tree DNA – due to their advanced tools, chromosome browser, Y and mitochondrial DNA tests (Ancestry and 23andMe participants can transfer autosomal raw data files and see matches for free, but advanced tools require either an unlock fee or a test on the Family Tree DNA platform)
  • 23andMe – no trees and many people don’t participate in sharing genetic information
  • MyHeritage – new kid on the block, working through what is hoped are startup issues
  • All adoptees should take the full mitochondrial sequence test.
  • Male adoptees should take the 111 marker Y DNA test, although you can start with 37 or 67 markers and upgrade later.
  • Y and mitochondrial tests are only available at Family Tree DNA.

Adoptee Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe MyHeritage
Autosomal DNA – Males and Females
Matching Yes Yes Yes Yes – problems
Relationship Estimates* Yes – May be too close Yes – May be too distant Yes – Matches may not be sharing Yes –  problematic
International Reach Very strong Not strong but growing Not strong Small but subscriber base is European focused
Trees Yes Yes No Yes
Tree Quantity 54% have trees, 46% no tree (of my first 100 matches) 56% have trees, 44% no tree or private (of my first 100 matches) No trees ~50% don’t have trees or are private (cannot discern private tree without clicking on every tree)
Data Base Size Large Largest Large – but not all opt in to matching Very small
My # of Matches on 4-23-2017 2,421 23,750 1,809 but only 1,114 are sharing 75
Subscription Required No No for partial, Yes for full functionality including access to matches’ trees, minimal subscription for $49 by calling Ancestry No No for partial, Yes for full functionality
Other Relevant Tools New Ancestor Discoveries
Autosomal DNA Issues Many testers don’t have trees Many testers don’t have trees Matching opt-in is problematic, no trees at all Matching issues, small data base size is problematic, many testers don’t have trees
Contact Methodology E-mail address provided to matches Internal message system – known delivery issues Internal message system Internal message system
X Chromosome Matching Yes No Yes No
Y-DNA – Males Only
Y DNA STR Test Yes- 37, 67, and 111 markers No No No
Y Haplogroup Yes as part of STR test plus additional testing available No Yes, basic level but no additional testing available, outdated haplogroups No
Y Matching Yes No No No
Advanced Matching Between Y and Autosomal Yes No No No
Mitochondrial DNA- Males and Females
Test Yes, partial and full sequence No No No
Mitochondrial DNA Haplogroup Yes, included in test No Yes, basic but full haplogroup not available, haplogroup several versions behind No
Advanced Matching Between Mitochondrial and Autosomal Yes No No No

Genealogy – Cousin Matching and Ancestor Search/Verification

People who want to take a DNA test to find cousins, to learn more about their genealogy, to verify their genealogy research or to search for unknown ancestors and break down brick walls will be interested in various types of testing

Test Type Who Can Test
Y DNA – direct paternal line Males only
Mitochondrial DNA – direct matrilineal line Males and Females
Autosomal – all lines Males and Females

Let’s begin with autosomal DNA testing for genealogy which tests your DNA inherited from all ancestral lines.

Aside from ethnicity, autosomal DNA testing provides matches to other people who have tested. A combination of trees, meaning their genealogy, and their chromosome segments are used to identify (through trees) and verify (through DNA segments) common ancestor(s) and then to assign a particular DNA segment(s) to that ancestor or ancestral couple. This process, called triangulation, then allows you to assign specific segments to particular ancestors, through segment matching among multiple people. You then know that when another individual matches you and those other people on the same segment, that the DNA comes from that same lineage. Triangulation is the only autosomal methodology to confirm ancestors who are not close relatives, beyond the past 2-3 generations or so.

All three vendors provide matching, but the tools they include and their user interfaces are quite different. 

Genealogy – Autosomal –  Family Tree DNA

Family Tree DNA entered DNA testing years before any of the others, initially with Y and mitochondrial DNA testing.

Because of the diversity of their products, their website is somewhat busier, but they do a good job of providing areas on the tester’s personal landing page for each of the products and within each product, a link for each feature or function.

For example, the Family Finder test is Family Tree DNA’s autosomal test. Within that product, tools provided are:

  • Matching
  • Chromosome Browser
  • Linked Relationships
  • myOrigins
  • Ancient Origins
  • Matrix
  • Advanced Matching

Unique autosomal tools provided by Family Tree DNA are:

  • Linked Relationships that allows you to connect individuals that you match to their location in your tree, indicating the proper relationship. Phased Family Matching uses these relationships within your tree to indicate which side of your tree other matches originate from.
  • Phased Family Matching shows which side of your tree, maternal, paternal or both, someone descends from, based on phased DNA matching between you and linked relationship matches as distant as third cousins. This allows Family Tree DNA to tell you whether matches are paternal (blue icon), maternal (red icon) or both (purple icon) without a parent’s DNA. This is one of the best autosomal tools at Family Tree DNA, shown below.

  • In Common With and Not In Common With features allow you to sort your matches in common with another individual a number of ways, or matches not in common with that individual.
  • Filtered downloads provide the downloading of chromosome data for your filtered match list.
  • Stackable filters and searches – for example, you can select paternal matches and then search for a particular surname or ancestral surname within the paternal matches.
  • Common ethnicity matching through myOrigins allows you to see selected groups of individuals who match you and share common ethnicities.
  • Y and mtDNA locations of autosomal matches are provided on your ethnicity map through myOrigins.
  • Advanced matching tool includes Y, mtDNA and autosomal in various combinations. Also includes matches within projects where the tester is a member as well as by partial surname.
  • The matrix tool allows the tester to enter multiple people that they match in order to see if those individuals also match each other. The matrix tool is, in combination with the in-common-with tool and the chromosome browser is a form of pseudo triangulation, but does not indicate that the individuals match on the same segment.

  • Chromosome browser with the ability to select different segment match thresholds to display when comparing 5 or fewer individuals to your results.
  • Projects to join which provide group interaction and allow individuals to match only within the project, if desired.

To read more about how to utilize the various autosomal tools at Family Tree DNA, with examples, click here.

Genealogy – Autosomal – Ancestry

Ancestry only offers autosomal DNA testing to their customers, so their page is simple and straightforward.

Ancestry is the only testing vendor (other than MyHeritage who is not included in this section) to require a subscription for full functionality, although if you call the Ancestry support line, a minimal subscription is available for $49. You can see your matches without a subscription, but you cannot see your matches trees or utilize other functions, so you will not be able to tell how you connect to your matches. Many genealogists have Ancestry subscriptions, so this is minimally problematic for most people.

However, if you don’t realize you need a subscription initially, the required annual subscription raises the effective cost of the test quite substantially. If you let your subscription lapse, you no longer have access to all DNA features. The cost of testing with Ancestry is the cost of the test plus the cost of a subscription if you aren’t already a subscriber.

This chart, from the Ancestry support center, provides details on which features are included for free and which are only available with a subscription.

Unique tools provided by Ancestry include:

  • Shared Ancestor Hints (green leaves) which indicate a match with whom you share a common ancestor in your tree connected to your DNA, allowing you to display the path of you and your match to the common ancestor. In order to take advantage of this feature, testers must link their tree to their DNA test. Otherwise, Ancestry can’t do tree matching.  As far as I’m concerned, this is the single most useful DNA tool at Ancestry. Subscription required.

  • DNA Circles, example below, are created when several people whose DNA matches also share a common ancestor. Subscription required.

  • New Ancestor Discoveries (NADs), which are similar to Circles, but are formed when you match people descended from a common ancestor, but don’t have that ancestor in your tree. The majority of the time, these NADs are incorrect and are, when dissected and the source can be determined, found to be something like the spouse of a sibling of your ancestor. I do not view NADs as a benefit, more like a wild goose chase, but for some people these could be useful so long as the individual understands that these are NOT definitely ancestors and only hints for research. Subscription required.
  • Ancestry uses a proprietary algorithm called Timber to strip DNA from you and your matches that they consider to be “too matchy,” with the idea that those segments are identical by population, meaning likely to be found in large numbers within a population group – making them meaningless for genealogy. The problem is that Timber results in the removal of valid segments, especially in endogamous groups like Acadian families. This function is unique to Ancestry, but many genealogists (me included) don’t consider Timber a benefit.
  • Genetic Communities shows you groups of individuals with whom your DNA clusters. The trees of cluster members are then examined by Ancestry to determine connections from which Genetic Communities are formed. You can filter your DNA match results by Genetic Community.

Genealogy – Autosomal – 23and Me

Unfortunately, the 23andMe website is not straightforward or intuitive. They have spent the majority of the past two years transitioning to a “New Experience” which has resulted in additional confusion and complications when matching between people on multiple different platforms. You can take a spin through the New Experience by clicking here.

23andMe requires people to opt-in to sharing, even after they have selected to participate in Ancestry Services (genealogy) testing, have opted-in previously and chosen to view their DNA Relatives. Users on the “New Experience” can then either share chromosome data and results with each other individually, meaning on a one by one basis, or globally by a one-time opt-in to “open sharing” with matches. If a user does not opt-in to both DNA Relatives and open sharing, sharing requests must be made individually to each match, and they must opt-in to share with each individual user. This complexity and confusion results in an approximate sharing rate of between 50 and 60%. One individual who religiously works their matches by requesting sharing now has a share rate of about 80% of their matches in the data base who HAVE initially selected to participate in DNA Relatives. You can read more about the 23andMe experience at this link.

Various genetic genealogy reports and tools are scattered between the Reports and Tools tabs, and within those, buried in non-intuitive locations. If you are going to utilize 23andMe for matching and genealogy, in addition to the above link, I recommend Kitty Cooper’s blogs about the new DNA Relatives here and on triangulation here. Print the articles, and use them as a guide while navigating the 23andMe site.

Note that some screens (the Tools, DNA Relatives, then DNA tab) on the site do not display/work correctly utilizing Internet Explorer, but do with Edge or other browsers.

The one genealogy feature unique to 23andMe is:

  • Triangulation at 23andMe allows you to select a specific match to compare your DNA against. Several pieces of information will be displayed, the last of which, scrolling to the bottom, is a list of your common relatives with the person you selected.

In the example below, I’ve selected to see the matches I match in common with known family member, Stacy Den (surnames have been obscured for privacy reasons.)  Please note that the Roberta V4 Estes kit is a second test that I took for comparison purposes when the new V4 version of 23andMe was released.  Just ignore that match, because, of course I match myself as a twin.

If an individual does not match both you and your selected match, they will not appear on this list.

In the “relatives in common” section, each person is listed with a “shared DNA” column. For a person to be shown on this “in common” list, you obviously do share DNA with these individuals and they also share with your match, but the “shared DNA” column goes one step further. This column indicates whether or not you and your match both share a common DNA segment with the “in common” person.

I know this is confusing, so I’ve created this chart to illustrate what will appear in the “Shared DNA” column of the individuals showing on the list of matches, above, shared between me and Stacy Den.

Clicking on “Share to see” sends Sarah a sharing request for her to allow you to see her segment matches.

Let’s look at an example with “yes” in the Shared DNA column.

Clicking on the “Yes” in the Shared DNA column of Debbie takes us to the chromosome browser which shows both your selected match, Stacy in my case, and Debbie, the person whose “yes” you clicked.

All three people, meaning me, Stacy and Debbie share a common DNA segment, shown below on chromosome 17.

What 23andMe does NOT say is that these people. Stacy and Debbie, also match each other, in addition to matching me, which means all three of us triangulate.

Because I manage Stacy’s kit at 23andMe, I can check to see if Debbie is on Stacy’s match list, and indeed, Debbie is on Stacy’s match list and Stacy does match both Debbie and me on chromosome 17 in exactly the same location shown above, proving unquestionably that the three of us all match each other and therefore triangulate on this segment. In our case, it’s easy to identify our common relative whose DNA all 3 of us share.

Genealogy – Autosomal Summary

While all 3 vendors offer matching, their interfaces and tools vary widely.

I would suggest that Ancestry is the least sophisticated and has worked hard to make their tools easy for the novice working with genetic genealogy. Their green leaf DNA+Tree Matching is their best feature, easy to use and important for the novice and experienced genealogist alike.  Now, if they just had that chromosome browser so we could see how we match those people.

Ancestry’s Circles, while a nice feature, encourage testers to believe that their DNA or relationship is confirmed by finding themselves in a Circle, which is not the case.

Circles can be formed as the result of misinformation in numerous trees. For example, if I were to inaccurately list Smith as the surname for one of my ancestor’s wives, I would find myself in a Circle for Barbara Smith, when in fact, there is absolutely no evidence whatsoever that her surname is Smith. Yet, people think that Barbara Smith is confirmed due to a Circle having been formed and finding themselves in Barbara Smith’s Circle. Copying incorrect trees equals the formation of incorrect Circles.

It’s also possible that I’m matching people on multiple lines and my DNA match to the people in any given Circle is through another common ancestor entirely.

A serious genealogist will test minimally at Ancestry and at Family Tree DNA, who provides a chromosome browser and other tools necessary to confirm relationships and shared DNA segments.

Family Tree DNA is more sophisticated, so consequently more complex to use.  They provide matching plus numerous other tools. The website and matching is certainly friendly for the novice, but to benefit fully, some experience or additional education is beneficial, not unlike traditional genealogy research itself. This is true not just for Family Tree DNA, but GedMatch and 23andMe who all three utilize chromosome browsers.

The user will want to understand what a chromosome browser is indicating about matching DNA segments, so some level of education makes life a lot easier. Fortunately, understanding chromosome browser matching is not complex. You can read an article about Match Groups and Triangulation here. I also have an entire series of Concepts articles, Family Tree DNA offers a webinar library, their Learning Center and other educational resources are available as well.

Family Tree DNA is the only vendor to provide Phased Family Matches, meaning that by connecting known relatives who have DNA tested to your tree, Family Tree DNA can then identify additional matches as maternal, paternal or both. This, in combination with pseudo-phasing are very powerful matching tools.

23andMe is the least friendly of the three companies, with several genetic genealogy unfriendly restrictions relative to matching, opt-ins, match limits and such. They have experienced problem after problem for years relative to genetic genealogy, which has always been a second-class citizen compared to their medical research, and not a priority.

23andMe has chosen to implement a business model where their customers must opt-in to share segment information with other individuals, either one by one or by opting into open sharing. Based on my match list, roughly 60% of my actual DNA matches have opted in to sharing.

Their customer base includes fewer serious genealogists and their customers often are not interested in genealogy at all.

Having said that, 23andMe is the only one of the three that provides actual triangulated matches for users on the New Experience and who have opted into sharing.

If I were entering the genetic genealogy testing space today, I would test my autosomal DNA at Ancestry and at Family Tree DNA, but I would probably not test at 23andMe. I would test both my Y DNA (if a male) and mitochondrial at Family Tree DNA.

Thank you to Kitty Cooper for assistance with parent/child matching and triangulation at 23andMe.

Genealogy Autosomal Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe
Matching Yes Yes Yes – each person has to opt in for open sharing or authorize sharing individually, many don’t
Estimated Relationships Yes Yes Yes
Chromosome Browser Yes No – Large Issue Yes
Chromosome Browser Threshold Adjustment Yes No Chromosome Browser No
X Chromosome Matching Yes No Yes
Trees Yes Yes – subscription required so see matches’ trees No
Ability to upload Gedcom file Yes Yes No
Ability to search trees Yes Yes No
Subscription in addition to DNA test price No No for partial, Yes for full functionality, minimal subscription for $49 by calling Ancestry No
DNA + Ancestor in Tree Matches No Yes – Leaf Hints – subscription required – Best Feature No
Phased Parental Side Matching Yes – Best Feature No No
Parent Match Indicator Yes No Yes
Sort or Group by Parent Match Yes Yes Yes
In Common With Tool Yes Yes Yes
Not In Common With Tool Yes No No
Triangulated Matches No – pseudo with ICW, browser and matrix No Yes – Best Feature
Common Surnames Yes Yes – subscription required No
Ability to Link DNA Matches on Tree Yes No No
Matrix to show match grid between multiple matches Yes No No
Match Filter Tools Yes Minimal Some
Advanced Matching Tool Yes No No
Multiple Test Matching Tool Yes No multiple tests No multiple tests
Ethnicity Matching Yes No Yes
Projects Yes No No
Maximum # of Matches Restricted No No Yes – 2000 unless you are communicating with the individuals, then they are not removed from your match list
All Customers Participate Yes Yes, unless they don’t have a subscription No – between 50-60% opt-in
Accepts Transfers from Other Testing Companies Yes No No
Free Features with Transfer Matching, ICW, Matrix, Advanced Matching No transfers No transfers
Transfer Features Requiring Unlock $ Chromosome Browser, Ethnicity, Ancient Origins, Linked Relationships, Parentally Phased Matches No Transfers No transfers
Archives DNA for Later Testing Yes, 25 years No, no additional tests available No, no additional tests available
Additional Tool DNA Circles – subscription required
Additional Tool New Ancestor Discoveries – subscription required
Y DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Mitochondrial DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Advanced Testing Available Yes No No
Website Intuitive Yes, given their many tools Yes, very simple No
Data Base Size Large Largest Large but many do not test for genealogy, only test for health
Strengths Many tools, multiple types of tests, phased matching without parent DNA + Tree matching, size of data base Triangulation
Challenges Website episodically times out No chromosome browser or advanced tools Sharing is difficult to understand and many don’t, website is far from intuitive

 

Genealogy – Y and Mitochondrial DNA

Two indispensable tools for genetic genealogy that are often overlooked are Y and mitochondrial DNA.

The inheritance path for Y DNA is shown by the blue squares and the inheritance path for mitochondrial DNA is shown by the red circles for the male and female siblings shown at the bottom of the chart.

Y-DNA Testing for Males

Y DNA is inherited by males only, from their father. The Y chromosome makes males male. Women instead inherit an X chromosome from their father, which makes them female. Because the Y chromosome is not admixed with the DNA of the mother, the same Y chromosome has been passed down through time immemorial.

Given that the Y chromosome follows the typical surname path, Y DNA testing is very useful for confirming surname lineage to an expected direct paternal ancestor. In other words, an Estes male today should match, with perhaps a few mutations, to other descendants of Abraham Estes who was born in 1647 in Kent, England and immigrated to the colony of Virginia.

Furthermore, that same Y chromosome can look far back in time, thousands of years, to tell us where that English group of Estes men originated, before the advent of surnames and before the migration to England from continental Europe. I wrote about the Estes Y DNA here, so you can see an example of how Y DNA testing can be used.

Y DNA testing for matching and haplogroup identification, which indicates where in the world your ancestors were living within the past few hundred to few thousand years, is only available from Family Tree DNA. Testing can be purchased for either 37, 67 or 111 markers, with the higher marker numbers providing more granularity and specificity in matching.

Family Tree DNA provides three types of Y DNA tests.

  • STR (short tandem repeat) testing is the traditional Y DNA testing for males to match to each other in a genealogically relevant timeframe. These tests can be ordered in panels of 37, 67 or 111 markers and lower levels can be upgraded to higher levels at a later date. An accurate base haplogroup prediction is made from STR markers.
  • SNP (single nucleotide polymorphism) testing is a different type of testing that tests single locations for mutations in order to confirm and further refine haplogroups. Think of a haplogroup as a type of genetic clan, meaning that haplogroups are used to track migration of humans through time and geography, and are what is utilized to determine African, European, Asian or Native heritage in the direct paternal line. SNP tests are optional and can be ordered one at a time, in groups called panels for a particular haplogroup or a comprehensive research level Y DNA test called the Big Y can be ordered after STR testing.
  • The Big Y test is a research level test that scans the entire Y chromosome to determine the most refined haplogroup possible and to report any previously unknown mutations (SNPs) that may define further branches of the Y DNA tree. This is the technique used to expand the Y haplotree.

You can read more about haplogroups here and about the difference between STR markers and SNPs here, here and here.

Customers receive the following features and tools when they purchase a Y DNA test at Family Tree DNA or the Ancestry Services test at 23andMe. The 23andMe Y DNA information is included in their Ancestry Services test. The Family Tree DNA Y DNA information requires specific tests and is not included in the Family Finder test. You can click here to read about the difference in the technology between Y DNA testing at Family Tree DNA and at 23andMe. Ancestry is not included in this comparison because they provide no Y DNA related information.

Y DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of STR panel marker testing Yes, in panels of 37, 67 and 111 markers No
Test panel (STR) marker results Yes Not tested
Haplogroup assignment Yes – accurate estimate with STR panels, deeper testing available Yes –base haplogroup by scan – haplogroup designations are significantly out of date, no further testing available
SNP testing to further define haplogroup Yes – can purchase individual SNPs, by SNP panels or Big Y test No
Matching to other participants Yes No
Trees available for your matches Yes No
E-mail of matches provided Yes No
Calculator tool to estimate probability of generational distance between you and a match Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic projects No
Ability to search Y matches Yes No Y matching
Ability to search matches within projects Yes No projects
Ability to search matches by partial surname Yes No
Haplotree and customer result location on tree Yes, detailed with every branch Yes, less detailed, subset
Terminal SNP used to determine haplogroup Yes Yes, small subset available
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins – match ancestral location summary by haplogroup, by test level Yes No
SNP map showing worldwide locations of any selected SNP Yes No
Matches map showing mapped locations of your matches most distant ancestor in the paternal line, by test panel Yes No
Big Y – full scan of Y chromosome for known and previously unknown mutations (SNPs) Yes No
Big Y matching Yes No
Big Y matching known SNPs Yes No
Big Y matching novel variants (unknown or yet unnamed SNPs) Yes No
Filter Big Y matches Yes No
Big Y results Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

Mitochondrial DNA Testing for Everyone

Mitochondrial DNA is contributed to both genders of children by mothers, but only the females pass it on. Like the Y chromosome, mitochondrial DNA is not admixed with the DNA of the other parent. Therefore, anyone can test for the mitochondrial DNA of their matrilineal line, meaning their mother’s mother’s mother’s lineage.

Matching can identify family lines as well as ancient lineage.

You receive the following features and tools when you purchase a mitochondrial DNA test from Family Tree DNA or the Ancestry Services test from 23andMe. The Family Tree DNA mitochondrial DNA information requires specific tests and is not included in the Family Finder test. The 23andMe mitochondrial information is provided with the Ancestry Services test. Ancestry is omitted from this comparison because they do not provide any mitochondrial information.

Mitochondrial DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of testing Yes, mtPlus and Full Sequence No
Test panel marker results Yes, in two formats, CRS and RSRS No
Rare mutations, missing and extra mutations, insertions and deletions reported Yes No
Haplogroup assignment Yes, most current version, Build 17 Yes, partial and out of date version
Matching to other participants Yes No
Trees of matches available to view Yes No
E-mail address provided to matches Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic available No
Ability to search matches Yes No
Ability to search matches within project Yes No projects
Ability to search match by partial surname Yes No
Haplotree and customer location on tree No Yes
Mutations used to determine haplogroup provided Yes No
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins –match ancestral location summary by haplogroup Yes No
Matches map showing mapped locations of your matches most distant ancestor in the maternal line, by test level Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

 

Overall Genealogy Summary

Serious genealogists should test with at least two of the three major vendors, being Family Tree DNA and Ancestry, with 23andMe coming in as a distant third.

No genetic genealogy testing regimen is complete without Y and mitochondrial DNA for as many ancestral lines as you can find to test. You don’t know what you don’t know, and you’ll never know if you don’t test.

Unfortunately, many people, especially new testers, don’t know Y and mitochondrial DNA testing for genetic genealogy exists, or how it can help their genealogy research, which is extremely ironic since these were the first tests available, back in 2000.

You can read about finding Y and mitochondrial information for various family lines and ancestors and how to assemble a DNA Pedigree Chart here.

You can also take a look at my 52 Ancestors series, where I write about an ancestor every week. Each article includes some aspect of DNA testing and knowledge gained by a test or tests, DNA tool, or comparison. The DNA aspect of these articles focuses on how to use DNA as a tool to discover more about your ancestors.

Testing for Medical/Health or Traits

The DTC market also includes health and medical testing, although it’s not nearly as popular as genetic genealogy.

Health/medical testing is offered by 23andMe, who also offers autosomal DNA testing for genealogy.

Some people do want to know if they have genetic predispositions to medical conditions, and some do not. Some want to know if they have certain traits that aren’t genealogically relevant, but might be interesting – such as whether they carry the Warrior gene or if they have an alcohol flush reaction.

23andMe was the first company to dip their toes into the water of Direct to Consumer medical information, although they called it “health,” not medicine, at that time. Regardless of the terminology, information regarding Parkinson’s and Alzheimer’s, for example, were provided for customers. 23andMe attempted to take the raw data and provide the consumer with something approaching a middle of the road analysis, because sometimes the actual studies provide conflicting information that might not be readily understood by consumers.

The FDA took issue with 23andMe back in November of 2013 when they ordered 23andMe to discontinue the “health” aspect of their testing after 23andMe ignored several deadlines. In October 2015, 23andMe obtained permission to provide customers with some information, such as carrier status, for 36 genetic disorders.

Since that time, 23andMe has divided their product into two separate tests, with two separate prices. The genealogy only test called Ancestry Service can be purchased separately for $99, or the combined Health + Ancestry Service for $199.

If you are interested in seeing what the Health + Ancestry test provides, you can click here to view additional information.

However, there is a much easier and less expensive solution.

If you have taken the autosomal test from 23andMe, Ancestry or Family Tree DNA, you can download your raw data file from the vendor and upload to Promethease to obtain a much more in-depth report than is provided by 23andMe, and much less expensively – just $5.

I reviewed the Promethease service here. I found the Promethease reports to be very informative and I like the fact that they provide information, both positive and negative for each SNP (DNA location) reported. Promethease avoids FDA problems by not providing any interpretation or analysis, simply the data and references extracted from SNPedia for you to review.

I would be remiss if I didn’t mention that you should be sure you really want to know before you delve into medical testing. Some mutations are simply indications that you could develop a condition that you will never develop or that is not serious. Other mutations are not so benign. Promethease provides this candid page before you upload your data.

Different files from different vendors provide different results at Promethease, because those vendors test different SNP locations in your DNA. At the Promethease webpage, you can view examples.

Traits

Traits fall someplace between genealogy and health. When you take the Health + Ancestry test at 23andMe, you do receive information about various traits, as follows:

Of course, you’ll probably already know if you have several of these traits by just taking a look in the mirror, or in the case of male back hair, by asking your wife.

At Family Tree DNA, existing customers can order tests for Factoids (by clicking on the upgrade button), noted as curiosity tests for gene variants.

Family Tree DNA provides what I feel is a great summary and explanation of what the Factoids are testing on their order page:

“Factoids” are based on studies – some of which may be controversial – and results are not intended to diagnose disease or medical conditions, and do not serve the purpose of medical advice. They are offered exclusively for curiosity purposes, i.e. to see how your result compared with what the scientific papers say. Other genetic and environmental variables may also impact these same physiological characteristics. They are merely a conversational piece, or a “cocktail party” test, as we like to call it.”

Test Price Description
Alcohol Flush Reaction $19 A condition in which the body cannot break down ingested alcohol completely. Flushing, after consuming one or two alcoholic beverages, includes a range of symptoms: nausea, headaches, light-headedness, an increased pulse, occasional extreme drowsiness, and occasional skin swelling and itchiness. These unpleasant side effects often prevent further drinking that may lead to further inebriation, but the symptoms can lead to mistaken assumption that the people affected are more easily inebriated than others.
Avoidance of Errors $29 We are often angry at ourselves because we are unable to learn from certain experiences. Numerous times we have made the wrong decision and its consequences were unfavorable. But the cause does not lie only in our thinking. A mutation in a specific gene can also be responsible, because it can cause a smaller number of dopamine receptors. They are responsible for remembering our wrong choices, which in turn enables us to make better decisions when we encounter a similar situation.
Back Pain $39 Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and patients use the term lumbar disc disease to encompass several different causes of back pain or sciatica. A study of Asian patients with lumbar disc disease showed that a mutation in the CILP gene increases the risk of back pain.
Bitter Taste Perception $29 There are several genes that are responsible for bitter taste perception – we test 3 of them. Different variations of this gene affect ability to detect bitter compounds. About 25% of people lack ability to detect these compounds due to gene mutations. Are you like them? Maybe you don’t like broccoli, because it tastes too bitter?
Caffeine Metabolism $19 According to the results of a case-control study reported in the March 8, 2006 issue of JAMA, coffee is the most widely consumed stimulant in the world, and caffeine consumption has been associated with increased risk for non-fatal myocardial infarction. Caffeine is primarily metabolized by the cytochrome P450 1A2 in the liver, accounting for 95% of metabolism. Carriers of the gene variant *1F allele are slow caffeine metabolizers, whereas individuals homozygous for the *1A/*1A genotype are rapid caffeine metabolizers.
Earwax Type $19 Whether your earwax is wet or dry is determined by a mutation in a single gene, which scientists have discovered. Wet earwax is believed to have uses in insect trapping, self-cleaning and prevention of dryness in the external auditory canal of the ear. It also produces an odor and causes sweating, which may play a role as a pheromone.
Freckling $19 Freckles can be found on anyone no matter what the background. However, having freckles is genetic and is related to the presence of the dominant melanocortin-1 receptor MC1R gene variant.
Longevity $49 Researchers at Harvard Medical School and UC Davis have discovered a few genes that extend lifespan, suggesting that the whole family of SIR2 genes is involved in controlling lifespan. The findings were reported July 28, 2005 in the advance online edition of Science.
Male Pattern Baldness $19 Researchers at McGill University, King’s College London and GlaxoSmithKline Inc. have identified two genetic variants in Caucasians that together produce an astounding sevenfold increase of the risk of male pattern baldness. Their results were published in the October 12, 2008 issue of the Journal of Nature Genetics.
Monoamine Oxidase A (Warrior Gene) $49.50 The Warrior Gene is a variant of the gene MAO-A on the X chromosome. Recent studies have linked the Warrior Gene to increased risk-taking and aggressive behavior. Whether in sports, business, or other activities, scientists found that individuals with the Warrior Gene variant were more likely to be combative than those with the normal MAO-A gene. However, human behavior is complex and influenced by many factors, including genetics and our environment. Individuals with the Warrior Gene are not necessarily more aggressive, but according to scientific studies, are more likely to be aggressive than those without the Warrior Gene variant. This test is available for both men and women, however, there is limited research about the Warrior Gene variant amongst females. Additional details about the Warrior Gene genetic variant of MAO-A can be found in Sabol et al, 1998.
Muscle Performance $29 A team of researchers, led by scientists at Dartmouth Medical School and Dartmouth College, have identified and tested a gene that dramatically alters both muscle metabolism and performance. The researchers say that this finding could someday lead to treatment of muscle diseases, including helping the elderly who suffer from muscle deterioration and improving muscle performance in endurance athletes.
Nicotine Dependence $19 In 2008, University of Virginia Health System researchers have identified a gene associated with nicotine dependence in both Europeans and African Americans.

Many people are interested in the Warrior Gene, which I wrote about here.

At Promethease, traits are simply included with the rest of the conditions known to be associated with certain SNPs, such as baldness, for example, but I haven’t done a comparison to see which traits are included.

 

Additional Vendor Information to Consider

Before making your final decision about which test or tests to purchase, there are a few additional factors you may want to consider.

As mentioned before, Ancestry requires a subscription in addition to the cost of the DNA test for the DNA test to be fully functional.

One of the biggest issues, in my opinion, is that both 23andMe and Ancestry sell customer’s anonymized DNA information to unknown others. Every customer authorizes the sale of their information when they purchase or activate a kit – even though very few people actually take the time to read the Terms and Conditions, Privacy statements and Security documents, including any and all links. This means most people don’t realize they are authorizing the sale of their DNA.

At both 23andMe and Ancestry, you can ALSO opt in for additional non-anonymized research or sale of your DNA, which you can later opt out of. However, you cannot opt out of the lower level sale of your anonymized DNA without removing your results from the data base and asking for your sample to be destroyed. They do tell you this, but it’s very buried in the fine print at both companies. You can read more here.

Family Tree DNA does not sell your DNA or information.

All vendors can change their terms and conditions at any time. Consumers should always thoroughly read the terms and conditions including anything having to do with privacy for any product they purchase, but especially as it relates to DNA testing.

Family Tree DNA archives your DNA for later testing, which has proven extremely beneficial when a family member has passed away and a new test is subsequently introduced or the family wants to upgrade a current test.  Had my mother’s DNA not been archived at Family Tree DNA, I would not have Family Finder results for her today – something I thank Mother and Family Tree DNA for every single day.

Family Tree DNA also accepts transfer files from 23andMe, Ancestry and very shortly, MyHeritage – although some versions work better than others. For details on which companies accept which file versions, from which vendors, and why, please read Autosomal DNA Transfers – Which Companies Accept Which Tests?

If you tested on a compatible version of the 23andMe Test (V3 between December 2010 and November 2013) or the Ancestry V1 (before May 2016) you may want to transfer your raw data file to Family Tree DNA for free and pay only $19 for full functionality, as opposed to taking the Family Finder test. Family Tree DNA does accept later versions of files from 23andMe and Ancestry, but you will receive more matches if you test on the same chip platform that Family Tree DNA utilizes instead of doing a transfer.

Additional Vendor Considerations Summary Chart

Family Tree DNA Ancestry 23andMe
Subscription required in addition to cost of DNA test No Yes for full functionality, partial functionality is included without subscription, minimum subscription is $49 by calling Ancestry No
Customer Support Good and available Available, nice but often not knowledgeable about DNA Poor
Sells customer DNA information No Yes Yes
DNA raw data file available to download Yes Yes Yes
DNA matches file available to download including match info and chromosome match locations Yes No Yes
Customers genealogically focused Yes Yes Many No
Accepts DNA raw data transfer files from other companies Yes, most, see article for specifics No No
DNA archived for later testing Yes, 25 years No No
Beneficiary provision available Yes No No

 

Which Test is Best For You?

I hope you now know the answer as to which DNA test is best for you – or maybe it’s multiple tests for you and other family members too!

DNA testing holds so much promise for genealogy. I hesitate to call DNA testing a miracle tool, but it often is when there are no records. DNA testing works best in conjunction with traditional genealogical research.

There are a lot of tests and options.  The more tests you take, the more people you match. Some people test at multiple vendors or upload their DNA to third party sites like GedMatch, but most don’t. In order to make sure you reach those matches, which may be the match you desperately need, you’ll have to test at the vendor where they tested. Otherwise, they are lost to you. That means, of course, that eventually, if you’re a serious genealogist, you’ll be testing at all 3 vendors.  Don’t forget about Y and mitochondrial tests at Family Tree DNA.

Recruit family members to test and reach out to your matches.  The more you share and learn – the more is revealed about your ancestors. You are, after all, the unique individual that resulted from the combination of all of them!

Update: Vendor prices updated June 22, 2017.

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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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