Y DNA Genealogy Case Study: SNPs, STRs & Autosomal – Why the Big Y-700 Rocks!

An expanded version of this article, including the genealogical aspects written for the Speak family, is available here. There is significantly more DNA information and analysis in this article, including STR values and autosomal analysis which can sometimes augment Y DNA results.

In 2004, 18 years ago, I founded the Speak(e)(s) Family DNA Project at FamilyTreeDNA in collaboration with the Speaks Family Association (SFA).

The goal of the Association broadly was to share research and to determine if, and how, the various Speak lines in America were related. The “rumor” was that the family was from England, but no one knew for sure. We didn’t even know who was actually “in” the family, or how many different families there might be.

The good news is that to answer these types of questions, you don’t need a huge study, and with today’s tools, you certainly don’t need 18 years. Don’t let that part scare you. In fact, any Speak(e)(s) man who takes a Y-DNA test today will have the answer plopped into his lap thanks to earlier testers.

When I established the Speaks DNA Project, our goal was stated, in part, as follows:

This project was begun to determine the various Speak(e)(s) lines around the world. According to family legend, the original ancestor came to England with William the Conqueror and his last name then was L’Espec. It was later spelled Speke and then the derivatives of Speake, Speak, Speakes, and Speaks carried by descendants today.

We knew there was a Thomas Speak (c1634-1681) who settled in St. Mary’s County, MD by 1661 and had two sons, John the InnKeeper or InnHolder (1665-1731) and Bowling (c1674-1755), named after his mother’s birth surname.

Fast forwarding two or three generations, my ancestor, Nicholas Speak or Speaks was born about 1782 and was first found in Washington County, Virginia in 1804 when he married Sarah Faires. That’s a long way from Maryland. Who was Nicholas? Who were his parents? How did Nicholas get to Washington County, Virginia? There aren’t any other Speaks men, or women, in Washington County. Was he dropped fully grown by the stork?

In 2005, I attended my first Speaks Family Association Convention and gave an introductory talk about Y-DNA. Speaks males volunteered to test.

By the 2006 Convention, we had 8 Y-DNA testers.

At first, everything was fine. Two testers each from Thomas the Immigrant through sons John and Bowling.

  • Thomas, Bowling and then two different sons. They matched.
  • Thomas, John, and his son Richard. They matched too.
  • All four men above match each other.

Everything’s good, right?

Not so fast…

Then, a father/son pair tested who were also supposed to descend from the Thomas, Bowling, and Thomas line. Thankfully, they matched each other, but they did NOT match the other descendants of Thomas the Immigrant.

Because we had multiple men through both of Thomas the Immigrant’s sons, we had confirmed the Y-DNA STR marker signature of Thomas – which means that the father/son pair had experienced a genetic disconnect, or, they were actually descended from a different Speak line.

That wasn’t all though. Two more men tested who believed they descended from Thomas the Immigrant through John and then Richard. They didn’t match each other, nor any of the other men either.

This was a difficult, painful situation, and not what was anticipated. Of course, I reviewed the results privately with the men involved before presenting them at the convention, and only did so with their permission.

In an effort to identify their genealogical lines, we discovered seven other mentions of early colonial Speak immigrants, including one named Thomas.

Over time, we would discover additional Y-DNA genetic Speak lines.

Bonus Cousin

Y-DNA also revealed an amazing new cousin, Henry, who didn’t know who his father was, but thanks to DNA, discovered he is a genetic Speaks AND identified his father.

In 2006, our Y-DNA haplogroup was known only as I1b1. We knew it was fairly rare and found in the rough Dinaric Alps border region between Bosnia and Croatia.

We weren’t wrong. We were just early. Our ancestors didn’t stop in the Alps.

Haplogroups have come a long way since that time.

Today, using the new maps in the Discover tool, the migration path into Europe-proper looks like this.

By the 2009 Convention, more Speaks men were taking Y-DNA tests, but we still had no idea where the Speaks line originated overseas.

The Holy Grail

The Holy Grail of Y-DNA testing is often a match with a man either from the “old country,” wherever that is, or someone who unquestionably knows where their ancestor is from. Through a match with them, other testers get to jump the pond too.

In early 2010, a man in New Zealand was interested in taking a Y-DNA test and knew where, in England, his ancestors originated.

A few weeks later, the New Zealand tester matched our Thomas Speaks, the Immigrant, line, which meant our ancestors might be from where his ancestors were from. Where was that?

Gisburn.

Gisburn? Where the heck was Gisburn?

Gisburn

Gisburn is a tiny, ancient village in Lancashire, England located in the Ribble Valley on the old Roman road. It appears in the Domesday Book of 1086 as Ghiseburne and is believed to have been established in the 9th century.

This was no longer speculation or unsourced oral history, but actual genetic evidence.

We knew that Thomas Speake, the Immigrant, was Catholic. Maryland was a safe haven for Catholics hoping to escape persecution in England.

Thomas was rumored to have been born to a John, but we had no idea where that rumor arose.

Was our Thomas born in Gisburn too?

Shortly, we discovered that St. Mary’s Church in Gisburn held 50 marked Speaks burials in addition to many unmarked graves.

Next, we discovered that the records of St. Mary’s and All Saints Church in Whalley, eleven miles from Gisburn, held pages and pages of Speak family records. The earliest Speak burial there was in 1540.

In 2011, the SFA Convention was held near Thomas and Bowlng Speak’s land in Charles County, Maryland. My Convention presentation contained a surprise – the information about our Gisburn match, and what we had found. A Y-DNA match, plus church records, and graves. How could that get better?

I showed this cemetery map from St. Mary’s Church in Gisburn, where our New Zealand cousin’s family was buried.

It felt like we were so excruciatingly close, but still so far away.

We knew unquestionably that we were in the neighborhood, but where was our Thomas born?

Who was his family?

I closed with this photo of St. Mary’s in Gisburn and famously said, “I don’t know about you, but I want to stand there.”

It was a throw-away comment, or so I thought, but as it turned out, it wasn’t.

2013 – The Trip Home

Gisburn

Two years later, our Convention was held in Lancashire, and indeed, I got to stand there.

So did our Speak cousin from New Zealand whose Y-DNA test bulldozed this brick wall for us. To be clear, had this ONE PERSON not tested, we would NOT have known where to dig for records, or where to visit.

St. Mary’s Church was surrounded by the cemetery, with many Speak stones. The church itself was built as a defensive structure sometime before 1135 with built-in arrowslits for archers in many locations, including the tower. Our family history was thick and rich here.

St. Mary’s Church in Whalley

Our next stop was St. Mary’s Church in Whalley, where Henry Speke was granted a lease in 1540.

This church is ancient, built in the 1200s, replacing an earlier church in the same location, and stunningly beautiful.

The little green men carved into the wooden choir seats are a wink and a nod to an earlier pagan era. Our ancestors would have known that era too.

In addition to the churches in Gisburn and Whalley, we visited St. Leonard’s Church in Downham which is a chapelry of the church in Whalley.

Downham

This church, in the shadow of Pendle Hill, proved to be quite important to our hunt for family.

Downham, on the north side of Pendle Hill was small then, and remains a crossroad village today with a population of about 150 people, including Twiston.

Twiston is located less than 3 miles away, yet it’s extremely remote, at the foot or perhaps on the side of Pendle Hill.

During our visit, Lord Clitheroe provided us with a transcription of the Downham church records wherein one Thomas Speak was baptized on January 1, 1633/34, born to Joannis, the Latin form of John, in nearby Twiston.

Is this Thomas our Thomas the Immigrant who was born about that same time? We still don’t know. There are clues but they are inconclusive and some conflict with each other.

Records in this area are incomplete. A substantial battle was fought in Whalley in 1643. Churches were often used for quartering soldiers and horses. Minister’s notes could well have been displaced, or books destroyed entirely. There could easily have been more than one Thomas born about this time.

Probate files show that in 1615, “John Speake of Twiston, husbandman” mentions his son William and William’s children, including John who was the administrator of his will. For John to be an administrator, he had to be age 21 or over, so born in 1594 or earlier. Some John Speak married Elizabeth Biesley at Whalley in 1622 and is believed to be the John Speak Sr. recorded in Downham Parish Registers.

The Whalley, Gisburn, and Twiston Speake families are closely connected. The difference may well be that our Thomas’s line remained secretly Catholic, so preferred the “uninhabited” areas of the remote Twiston countryside. Even today, Gisburn is described as being “rural, surrounded by hilly and relatively unpopulated areas.” And that’s Gisburn, with more than 500 residents. Downham is much smaller, about 20% of the size of Gisburn.

What do we know about Twiston?

Twiston

Twiston is too small to even be called a hamlet. The original farm and corn mill was owned originally by Whalley Abbey at least since the 1300s and stands near an old lime kiln, probably in use since Roman times.

This is where you know the earth holds the DNA of your ancestors, and their blood watered the landscape.

When the Speak family lived here, it was considered a “wild and lawless region” by local authorities, probably due in part to its remoteness – not to mention the (ahem) rebellious nature of the inhabitants.

If you were a Catholic, living in a hotbed of “recussants,” and trying to be invisible, Twiston, nestled at the base of Pendle Hill would be a location where you might be able to successfully disappear among those of like mind.

Yes, of course, you’d show up, hold your nose, and baptize your baby in the Anglican church because you needed to, but then you would retreat into the deep hillside woodlands until another mandatory church appearance was required.

The road to Twiston was twisty, rock-lined, and extremely narrow, with rock walls on both sides. If only these ancient buildings and stone walls could speak, share their stories, and reveal their secrets.

Old documents, however, do provide some insight.

This document, originally penned in Latin, was provided by the Lancashire archives.

John Speak, in 1609, was a farmer, with a house (messauge), garden, orchard, 10 acres of farmland, 5 of meadow, and 10 acres of pasture.

Indeed, Twiston is where John Speak lived. If the Thomas born in Twiston to Joannis, Latin for John, in 1633 and baptized on January 1, 1633/34 in old St. Leonard’s Church in Downham is our Thomas, this is his birth location.

For our family, this is, indeed, hallowed ground.

Local Testers

Prior to our visit, we published small ads in local newspapers and contacted historical societies. We found several Speak(e)(s) families and invited them to dinner where the after-dinner speaker explained all about DNA testing. You probably can’t see them clearly, but there are numerous DNA kits lying on the table, just waiting for people to have a swab party.

Our guests brought their family histories, and one of those families traced their line to…you guessed it…Twiston.

Five men from separate Speak families tested. None of them knew of any connection between their families, and all presumed they were not related.

I carried those men’s DNA tests back in my hand luggage like the gold that they were.

They were wrong. All five men matched each other’s Y-DNA and our Thomas Speake line. We got busy connecting the dots genealogically, as best we could given the paucity of extant records.

  • Two of our men descended from Henry Speak born in 1650 who married Alice Hill and lived in Downham/Twiston.
  • Two of our men descended from John Speak born about 1540 who married Elina Singleton and lived in Whalley.
  • Two of our men, including our New Zealand tester, descend from John born sometime around 1700, probably in Gisburn where his son, James, was born about 1745.

We indeed confirmed that we had found our way “home” and that our Speake family has lived there a long time. But how long?

2022 DNA Analysis

Today, the Speaks family DNA Project has 146 members comprised of:

  • 105 autosomal testers
  • 32 Speak Y-DNA testers
  • 24 of whom are Thomas the Immigrant descendants
  • 8 Big Y testers

Over the years, we’ve added another goal. We need to determine HOW a man named Aaron Lucky Speaks is related to the rest of us.

Autosomal DNA confirms that Aaron Luckey is related, but we need more information.

Aaron Lucky is first found in 1787 purchasing land and on the 1790 Iredell County, NC census. We finally located a Y-DNA tester and confirmed that his paternal line is indeed the Lancashire Speaks line, but how?

After discovering that all 5 Lancashire Speaks men descend from the same family as Thomas the Immigrant, we spent a great deal of time trying to both sort them out, and tie the family lines together using STR 25-111 markers, with very limited success.

Can Y-DNA make that connection for us, even though the records can’t?

Yes, but we needed to upgrade several testers, preferably multiple people from each line to the Big Y-700 test.

The Y-DNA Block Tree

When men take or upgrade to a Big Y-700 DNA test, they receive the most detailed information possible, including all available (700+) STR markers plus the most refined haplogroup, including newly discovered mutations in their own test, placing them as a leaf on the very tip of their branch of the tree of mankind.

The only other men “in that branch neighborhood” are their closest relatives. Sometimes they match exactly and are sometimes separated by a single or few mutations. Testers with 30 or fewer mutations difference are shown on the Block Tree by name. Eight Speaks men have taken or upgraded to the Big Y test, providing information via matching that we desperately needed.

This Big Y block tree view shown below is from the perspective of a descendant of Nicholas Speaks (b1782) and includes the various mutations that define branches, shown as building blocks. Each person shown on the Block Tree is a match to the tester with 30 or fewer mutations difference.

Think of haplogroups as umbrellas. Each umbrella shelters and includes everything beneath it.

At the top of this block tree, we have one solid blue block that forms an umbrella over all three branches beneath it. The top mutation name is I-BY14004, which is the haplogroup name associated with that block.

We have determined that all of the Speak men descended from the Lancashire line are members of haplogroup I-BY14004 and therefore, fall under that umbrella. The other haplogroup names in the same block mean that as other men test, a new branch may split off beneath the I-BY14004 branch.

Next, let’s look at the blue block at far left.

The Lancashire men, meaning those who live there, plus our New Zealand tester, also carry additional mutations that define haplogroup I-BY14009, which means that our Thomas the Immigrant line split off from theirs before that mutation was formed.

They all have that mutation, and Thomas didn’t, but he has a mutation that they don’t. This is how the tree forms branches.

Thomas the Immigrant’s line has the mutation defining haplogroup I-FTA21638, forming an umbrella over both of Thomas the Immigrant’s sons – meaning descendants of both sons carry this mutation.

Bowling’s line is defined by haplogroup I-BY215064, but John’s line does not carry this mutation, so John’s descendants are NOT members of this haplogroup, which turns out to be quite important.

We are very fortunate that one of Thomas’s sons, Bowling, developed a mutation, because it allows us to differentiate between Bowling and his brother, John’s, descendants easily if testers take the Big Y test.

Those teal Private Variants are haplogroups-in-waiting, meaning that when someone else tests, and matches that variant, it will be named and become a haplogroup, splitting the tree in that location by forming a new branch.

Aaron Luckey Speak

As you can see, the descendants of Aaron Lucky Speak, bracketed in blue above, carry the Bowling line mutation, so Aaron Luckey descends from one of Bowling’s sons. That makes sense, especially since two of Bowling’s grandsons are also found in Iredell County during the same timeframe and are candidates to be Aaron Luckey’s father.

Here’s a different view of the Big Y testers along with STR Y-DNA testers in a spreadsheet that I maintain.

Thomas the Immigrant (tan band top row) is shown with son, Bowling, who carries haplogroup BY215064. Bowling’s descendants are tan too, near the bottom.

Thomas’s son, John the InnKeeper, shown in the blue bar does NOT have the BY215064 mutation that defines Bowling’s group.

However, the bright green Aaron Lucky line, disconnected at far right, does have the Bowling mutation, BY215064, so this places Aaron Luckey someplace beneath Bowling, meaning his descendant. We just don’t know where he fits yet. The key word is yet.

Can STR Markers Be Utilized for Lineage Grouping?

Sometimes we can utilize STR marker mutations for subgrouping within haplogroups, but in this case, we cannot because STR mutations in this family have:

  • Occurred independently in different lines
  • Potentially back mutated

Between both of these issues, STR mutations are inconsistent and, therefore, in this case, entirely unreliable. I have found this phenomenon repeatedly in DNA projects that I manage where the genealogy line of descent is known and documented.

Let’s analyze the STR mutations.

I’ve created a table based on our 26 Y-DNA testers. However, not everyone tested at 111 markers, so there is a mix.

You can view the Speak DNA Project results, here.

I’ve divided the testers into the same groupings indicated by genealogy combined with the Big Y SNP mutations, which do agree with each other. Those groups are:

  • The Lancaster men that never left, except for the New Zealand tester whose ancestor left just two generations ago. They all share a defining SNP which provides them with an identifying haplogroup that the American line does not have.
  • The Thomas the Immigrant line through son Bowling.
    • The Aaron Luckey line who descends, somehow, from Bowling.
  • The Thomas the Immigrant line through son John the InnKeeper.
  • Two men who have provided no genealogy

We already know that Aaron Luckey descends from Bowling, somehow, but I’m keeping them separate just in case STR values can be helpful.

Let’s look at a total of five STR markers where multiple descendants have experienced mutations and see if we can discern any message. The mutations in the bright yellow Lancashire groups on the project page are summarized and analyzed in the chart, below.

You read the chart below, as follows:

  • For marker DYS-19, the testers who have a value of 16 – then the numbers indicated the number of testers in that group with that value. The Lancaster group has 5, the Bowling group has 7, the Aaron Luckey group has 4, and so forth.
  • The next row, colored the same, shows the value of 17 for marker DYS19.
  • Rows for values of the same marker are colored the same.

This chart does not include several markers where there are one-offs, meaning one mutation in the entire group, or one in each of two different groups that are different from each other. This chart includes markers with mutations that occur in multiple descendants only.

If these mutations were predictive and could be used for lineage assignment, we would expect to see the same mutation only within one of the lines, descended from a common ancestor, consistently, and not scattered across multiple lines.

Let’s start our analysis with the only marker that may be consistently predictive in this group. Marker DYS389ii has an ancestral value of 28, We know this because that value is consistently found in all of the Speaks descendants. A value of 29 is ONLY found in the 4 descendants of Aaron Luckey, and the value of 29 is consistently found in all of his known descendants who have tested. Therefore, it could be predictive.

However, given the nature of STR mutations, it’s difficult to place a lot of confidence in STR-based lineage predictions. Let’s look at the other four markers.

  • Marker DYS19 has a value of 16 in every line, which would be the ancestral value. However, we also find a mutation of 17 in 1 of Bowling’s children, and in 2 of John the InnKeeper’s descendants. That can’t be lineage-defining.
  • Looking at the CDY a/b marker, we find one instance of 35/36, which is a one-off. I wouldn’t have included it if I wasn’t using the other two combinations as examples. The values of 36/36 are found in every line except for the one with no genealogy and only one person has tested at 111 markers. A value of 36/37 is found in only the Bowling line, but not the Aaron Luckey line. The MRCA, or most recent common ancestor between the Bowling descendants is his son, Thomas of Zachia. The best candidates for Aaron Luckey’s father are two of Thomas of Zachia’s sons, but his descendants have a hodgepodge mixture of the two values, so this, again, cannot be a lineage-defining marker.
  • Looking at DYS534, we see a 15 in one of Bowling’s descendants and in 4 of John the InnKeeper’s descendants. Obviously not lineage-specific. There’s a value of 16 in every line which would be ancestral.
  • A value of 33 at DYS710 is found in every lineage, so would be the ancestral value. The value of 34 is found once in each line except for Bowling, which precludes it from being lineage-defining.

Inconsistent lineage results is one of the best reasons to purchase or upgrade to the Big Y-700 test.

Unfortunately, STR placement and lineage determination can be very deceptive and lead genealogists astray. At one time, we didn’t have advanced tools like the Big Y, but today we do.

STR Tests Are Useful When…

To be clear, STR marker tests, meaning the 37 and 111 marker tests available for purchase today, ARE very useful for:

  • Matching other testers
  • Identifying surnames of interest
  • Ruling out a connection, meaning determining that you don’t match a particular line
  • Introductory testing with limited funds that provides matching, a high-level haplogroup, and additional tools. You can always upgrade to the Big Y-700 test.

However, the Big Y-700 is necessary to place groups of people reliably into lineages and determine relationships accurately.

In some cases, autosomal DNA is useful, but in this case, autosomal doesn’t augment Y-DNA due, in part, to record loss and incomplete genealogy in the generations following Thomas of Zachia.

Family Finder Autosomal Analysis

In total, we have the following total Family Finder testers whose genealogy is confirmed:

  • 8 Aaron Luckey
  • 6 Lancashire testers
  • 15 John the InnKeeper testers
  • 33 Bowling testers

An autosomal analysis shows that Aaron Luckey Speak’s descendants match each other (green to green) most closely than they match either of Thomas the Immigrant’s sons, Bowling (tan) or John’s (blue) descendants. We would expect Aaron Luckey’s descendants to match each other the most closely, of course.

The numbers in the cells are total matching centiMorgans/longest segment cM match.

Click on any image to enlarge

Aaron Luckey’s descendants don’t collectively match John or Bowling’s descendants more closely than the other group using centiMorgans as the comparison. Although they match more of Bowling’s descendants (21%) than John’s (13%). This too would be expected since we know Aaron Luckey descends from Bowling’s line, not John’s.

At best, Aaron Luckey’s descendants are 8 or 9 generations removed from a common ancestor with other descendants of Thomas of Zachia, making them 6th or 7th cousins, plus another couple of generations back to Thomas the Immigrant. We can’t differentiate genetically between sibling ancestors or cousin lines at this distance.

Furthermore, we have a large gap in known descendants beneath Thomas of Zachia, other than Charles Beckworth Speak’s son Nicholas’s line. We have at least that many other testers in the project who don’t can’t confirm their Speaks ancestral lineage.

Combining genetic and genealogy information, we know that both Charles Beckworth Speak and Thomas Bowling Speak, in yellow, are found in Iredell County, NC. The children of Thomas of Zachia, shown in purple, are born in the 1730s and any one of them could potentially be the father of Aaron Luckey.

The men in green, including William, Bowling’s other son, are also candidates to be Aaron Luckey’s ancestor, although the two yellow men are more likely due to geographic proximity. They are both found in Iredell County.

We don’t know anything about William’s children, if any, nor much about Edward. John settled in Kentucky. Nicholas (green) stayed in Maryland.

There may be an additional generation between Charles Beckworth Speak (yellow) and Nicholas (born 1782), also named Charles. There’s a lot of uncertainty in this part of the tree.

It seems that Aaron’s middle name of Lucky is likely to be very significant. Aaron Luckey’s descendants may be able to search their autosomal matches for a Luckey family, found in both Iredell County AND Maryland, which may assist with further identification and may help identify Aaron’s father.

If all of the Speak men who took STR tests would upgrade to the Big Y, it’s probable that more branches would be discovered through those Private Variants, and it’s very likely that Aaron Luckey could be much more accurately placed on the tree. Another Aaron Luckey Speak Big Y-700 DNA tester would be useful too.

Connecting the Genetic Dots in England

What can we discern about the Speak family in the US and in Lancashire?

Reaching back in time, before Thomas the Immigrant was born about 1633, what can we tell about the Speak family, how they are connected, and when?

The recently introduced Discover tool allows us to view Y-DNA haplogroups and when they were born, meaning when the haplogroup-defining mutation occurred.

The Time Tree shows the haplogroups, in black above the profile dots. The scientifically calculated approximate dates of when those haplogroups were “born,” meaning when those mutations occurred, are found across the top.

I’ve added genealogical information, in red, at right.

  • Reading from the bottom red dot, Bowling’s haplogroup was born about the year 1660. Bowling was indeed born in 1674, so that’s VERY close
  • Moving back in time, Thomas’s haplogroup was born about 1617, and Thomas himself was born about 1633, but his birth certainly could have been a few years earlier.
  • The Lancashire testers’ common haplogroup was born about 1636, and the earliest known ancestor of those men is Henry, born in Twiston in 1650.
  • The common Speak ancestor of BOTH the Lancashire line and the Thomas the Immigrant line was born about 1334. The earliest record of any Speak was Henry Speke, of Whalley, born before 1520.

The lines of Thomas the Immigrant and the Lancashire men diverged sometime between about 1334, when the umbrella mutation for all Speaks lines was born, and about 1617 when we know the mutation defining the Thomas the Immigrant line formed and split off from the Lancashire line.

But that’s not all.

Surprise!

As I panned out and viewed the block tree more broadly, I noticed something.

This is quite small and difficult to read, so let me explain. At far left is the branch for our Speaks men. The common ancestor of that group was born about 1334 CE, meaning “current era,” as we’ve discussed.

Continuing up the tree, we see that the next haplogroup umbrella occurs about 1009 CE, then the year 850 at the top is the next umbrella, encompassing everything beneath.

Looking to the right, the farthest right blocks date to 1109 CE, then 1318 CE, then progressing on down the tree branch to the bottom, I see one surname in three separate blocks.

What is that name?

Here, let me enlarge the chart for you!

Standish.

The name is Standish, as in Myles Standish, the Pilgrim.

Miles is our relative, and even though he has a different surname, we share a common ancestor, probably before surnames were adopted. Our genetic branches divided about the year 1000.

The Discover tool also provides Notable Connections for each haplogroup, so I entered one of the Speaks haplogroups, and sure enough, the closest Speak Notable Connection is Myles Standish 1584-1656.

And look, there’s the Standish Pew in Chorley, another church that we visited during our Lancashire trip because family members of Thomas Speake’s Catholic wife, Elizabeth Bowling, are found in the Chorley church records.

Our common ancestor with the Standish line was born in about the year 850. Our line split off, as did the Standish line about the year 1000. That’s about 1000 years ago, or 30-40 generations.

Our family names are still found in the Chorley church records

Ancient Connections

The Discover tool also provides Ancient Connections from archaeological digs, by haplogroup.

Sure enough, there’s an ancient sample on the Time Tree named Heslerton 20641.

Checking the Discover Ancient Connections, the man named Heslerton 20641 is found in West Heslerton, Yorkshire, and lived about the year 450-650, based on carbon dating.

The mutation identifying the common ancestor between the Speak/Standish men and Heslerton occurred about 2450 BCE, or 4500 years ago. Twiston and West Heslerton are only 83 miles apart.

Where Are We?

What have we learned from the information discovered through genealogy combined with Big Y testing?

  • We found a Speek family in Whalley in 1385.
  • One of our Lancashire testers descends from a John born about 1540 in Whalley.
  • One of our Lancashire testers descends from Henry born about 1650 in Downham/Twiston
  • Thomas Speake was baptized in Downham and born in Twiston in 1733.
  • Our New Zealand tester’s ancestor was found in Gisburn, born about 1745.

All of these locations are within 15 miles of each other.

  • Chorley, where the Standish family is found in the 1500s is located 17 miles South of Whalley. Thomas Speake’s wife, Elizabeth Bowlings’ family is found in the Chorley church records.

What about the L’Espec origin myth?

  • The Speak family clearly did not arrive in 1066 with the Normans.
  • We have no Scandinavian DNA matches.
  • No place is the surname spelled L’Espec in any Lancashire regional records.
  • The Speak family is in the Whalley/Chorley area by 1000 when the Speak/Standish lines diverged
  • The common ancestor with the Standish family lived about the year 850, although that could have occurred elsewhere. Clearly, their common ancestor was in the Chorley/Whalley area by 1000 when their lines diverged.

The cemetery at Whalley includes Anglo-Saxon burials, circa 800-900. The Speak men, with no surname back then, greeted William the Conqueror and lived to tell the tale, along with their Standish cousins, of course. This, in essence, tells us that they were useful peasants, working the land and performing other labor tasks, and not landed gentry.

Little is known of Lancashire during this time, but we do know more generally that the Anglo-Saxons, a Germanic people, arrived in the 5th century when there was little else in this region.

Are our ancestors buried in these and other early Anglo-Saxon graves? I’d wager that the answer is yes. We are likely related one way or another to every family who lived in this region over many centuries.

Y-DNA connected the dots between recent cousins, connected them to their primary line in America, provided a lifeline back to Twiston, Whalley, and Gisburn, and then to the Anglo-Saxons – long before surnames.

Aaron Luckey Speak’s descendants now know that he descends, somehow, from Bowling, likely through one of two sons of Thomas of Zachia. They don’t have the entire answer yet, but they are within two generations, a lot closer than they were before.

And this, all of this, was a result of Big-Y DNA tests. We could not have accomplished any of this without Y-DNA testing.

Our ancestors are indeed speaking across the ages.

We found the road home, that path revealed by the DNA of our ancestors. You can find your road home too.

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DNA: In Search of…Full and Half-Siblings

This is the fifth article in our series of articles about searching for unknown close family members, specifically; parents, grandparents, or siblings. However, these same techniques can be applied by genealogists to identify ancestors further back in time as well.

Please note that if a family member has tested and you do NOT see their results, ask them to verify that they have chosen to allow matching and for other people to view them in their match list. That process varies at different vendors.

You can also ask if they can see you in their results.

All Parties Need to Test

Searching for unknown siblings isn’t exactly searching, because to find them, they, themselves, or their descendant(s) must have taken a DNA test at the same vendor where you tested or uploaded a DNA file.

You may know through any variety of methods that they exist, or might exist, but if they don’t take a DNA test, you can’t find them using DNA. This might sound obvious, but I see people commenting and not realizing that the other sibling(s) must test too – and they may not have.

My first questions when someone comments in this vein are:

  1. Whether or not they are positive their sibling actually tested, meaning actually sent the test in to the vendor, and it was received by the testing company. You’d be surprised how many tests are living in permanent residence on someone’s countertop until it gets pushed into the drawer and forgotten about.
  2. If the person has confirmed that their sibling has results posted. They may have returned their test, but the results aren’t ready yet or there was a problem.
  3. AND that both people have authorized matching and sharing of results. Don’t hesitate to reach out to your vendor’s customer care if you need help with this.

Sibling Scenarios

The most common sibling scenarios are when one of two things happens:

  • A known sibling tests, only to discover that they don’t match you in the full sibling range, or not at all, when you expected they would
  • You discover a surprise match in the full or half-sibling range

Let’s talk about these scenarios and how to determine:

  • If someone is a sibling
  • If they are a full or half-sibling
  • If a half-sibling, if they descend from your mother or father

As with everything else genetic, we’ll be gathering and analyzing different pieces of evidence along the way.

Full and Half-Siblings

Just to make sure we are all on the same page:

  • A full sibling is someone who shares both parents with you.
  • A half-sibling is someone who shares one parent with you, but not the other parent.
  • A step-sibling is someone who shares no biological parents with you. This situation occurs when your parent marries their parent, after you are both born, and their parent becomes your step-parent. You share neither of your biological parents with a step-sibling, so you share no DNA and will not show up on each other’s match lists.
  • A three-quarters sibling is someone with whom you share one parent, but two siblings are the other parent. For example, you share the same mother, but one brother fathered you, and your father’s brother fathered your sibling. Yes, this can get very messy and is almost impossible for a non-professional to sort through, if even then. (This is not a solicitation. I do not take private clients.) We will not be addressing this situation specifically.

Caution

With any search for unknown relatives, you have no way of knowing what you will find.

In one’s mind, there are happy reunions, but you may experience something entirely different. Humans are human. Their stories are not always happy or rosy. They may have made mistakes they regret. Or they may have no regrets about anything.

Your sibling may not know about you or the situation under which you, or they, were born. Some women were victims of assault and violence, which is both humiliating and embarrassing. I wrote about difficult situations, here.

Your sibling or close family member may not be receptive to either you, your message, or even your existence. Just be prepared, because the seeking journey may not be pain-free for you or others, and may not culminate with or include happy reunions.

On the other hand, it may.

Please step back and ponder a bit about the journey you are about to undertake and the possible people that may be affected, and how. This box, once opened, cannot be closed again. Be sure you are prepared.

On the other hand, sometimes that box lid pops off, and the information simply falls in your lap one day when you open your match list, and you find yourself sitting there, in shock, staring at a match, trying to figure out what it all means.

Congratulations, You Have a Sibling!

This might not be exactly what runs through your mind when you see that you have a very close match that you weren’t expecting.

The first two things I recommend when making this sort of discovery, after a few deep breaths, a walk, and a cup of tea, are:

  • Viewing what the vendor says
  • Using the DNAPainter Shared cM Relationship Chart

Let’s start with DNAPainter.

DNAPainter

DNAPainter provides a relationship chart, here, based on the values from the Shared cM Project.

You can either enter a cM amount or a percentage of shared DNA. I prefer the cM amount, but it doesn’t really matter.

I’ll enter 2241 cM from a known half-sibling match. To enter a percent, click on the green “enter %.”

As you can see, statistically speaking, this person is slightly more likely to be a half-sibling than they are to be a full sibling. In reality, they could be either.

Looking at the chart below, DNAPainter highlights the possible relationships from the perspective of “Self.”

The average of all the self-reported relationships is shown, on top, so 2613 for a full sibling. The range is shown below, so 1613-3488 for a full sibling.

In this case, there are several possibilities for two people who share 2241 cM of DNA.

I happen to know that these two people are half-siblings, but if I didn’t, it would be impossible to tell from this information alone.

The cM range for full siblings is 1613-3488, and the cM range for half-siblings is 1160-2436.

  • The lower part of the matching range, from 1160-1613 cM is only found in half-siblings.
  • The portion of the range from 1613-2436 cM can be either half or full siblings.
  • The upper part of the range, from 2436-3488 cM is only found in full siblings.

If your results fall into the center portion of the range, you’re going to need to utilize other tools. Fortunately, we have several.

If you’ve discovered something unexpected, you’ll want to verify using these tools, regardless. Use every tool available. Ranges are not foolproof, and the upper and lower 10% of the responses were removed as outliers. You can read more about the shared cM Project, here and here.

Furthermore, people may be reporting some half-sibling relationships as full sibling relationships, because they don’t expect to be half-siblings, so the ranges may be somewhat “off.”

Relationship Probability Calculator

Third-party matching database, GEDmatch, provides a Relationship Probability Calculator tool that is based on statistical probability methods without compiled user input. Both tools are free, and while I haven’t compared every value, both seem to be reasonably accurate, although they do vary somewhat, especially at the outer ends of the ranges.

When dealing with sibling matches, if you are in all four databases, GEDmatch is a secondary resource, but I will include GEDmatch when they have a unique tool as well as in the summary table. Some of your matches may be willing to upload to GEDmatch if the vendor where you match doesn’t provide everything you need and GEDmatch has a supplemental offering.

Next, let’s look at what the vendors say about sibling matches.

Vendors

Each of the major vendors reports sibling relationships in a slightly different way.

Sibling Matches at Ancestry

Ancestry reports sibling relationships as Sister or Brother, but they don’t say half or full.

If you click on the cM portion of the link, you’ll see additional detail, below

Ancestry tells you that the possible relationships are 100% “Sibling.” The only way to discern the difference between full and half is by what’s next.

If the ONLY relationship shown is Sibling at 100%, that can be interpreted to mean this person is a full sibling, and that a half-sibling or other relationship is NOT a possibility.

Ancestry never stipulates full or half.

The following relationship is a half-sibling at Ancestry.

Ancestry identifies that possible range of relationships as “Close Family to First Cousin” because of the overlaps we saw in the DNAPainter chart.

Clicking through shows that there is a range of possible relationships, and Ancestry is 100% sure the relationship is one of those.

DNAPainter agrees with Ancestry except includes the full-sibling relationship as a possibility for 1826 cM.

Sibling Matches at 23andMe

23andMe does identify full versus half-siblings.

DNAPainter disagrees with 23andMe and claims that anyone who shares 46.2% of their DNA is a parent/child.

However, look at the fine print. 23andMe counts differently than any of the other vendors, and DNAPainter relies on the Shared cM Project, which relies on testers entering known relationship matching information. Therefore, at any other vendor, DNAPainter is probably exactly right.

Before we understand how 23andMe counts, we need to understand about half versus fully identical segments.

To determine half or full siblings, 23andMe compares two things:

  1. The amount of shared matching DNA between two people
  2. Fully Identical Regions (FIR) of DNA compared to Half Identical Regions (HIR) of DNA to determine if any of your DNA is fully identical, meaning some pieces of you and your sibling’s DNA is exactly the same on both your maternal and paternal chromosomes.

Here’s an example on any chromosome – I’ve randomly selected chromosome 12. Which chromosome doesn’t matter, except for the X, which is different.

Your match isn’t broken out by maternal and paternal sides. You would simply see, on the chromosome browser, that you and your sibling match at these locations, above.

In reality, though, you have two copies of each chromosome, one from Mom and one from Dad, and so does your sibling.

In this example, Mom’s chromosome is visualized on top, and Dad’s is on the bottom, below, but as a tester, you don’t know that. All you know is that you match your sibling on all of those blue areas, above.

However, what’s actually happening in this example is that you are matching your sibling on parts of your mother’s chromosome and parts of your father’s chromosome, shown above as green areas

23andMe looks at both copies of your chromosome, the one you inherited from Mom, on top, and Dad, on the bottom, to see if you match your sibling on BOTH your mother’s and your father’s chromosomes in that location.

I’ve boxed the green matching areas in purple where you match your sibling fully, on both parents’ chromosomes.

If you and your sibling share both parents, you will share significant amounts of the same DNA on both copies of the same chromosomes, meaning maternal and paternal. In other words, full siblings share some purple fully identical regions (FIR) of DNA with each other, while half-siblings do not (unless they are also otherwise related) because half-siblings only share one parent with each other. Their DNA can’t be fully identical because they have a different parent that contributed the other copy of their chromosome.

Total Shared DNA Fully Identical DNA from Both Parents
Full Siblings ~50% ~25%
Half Siblings ~25% 0
  • Full siblings are expected to share about 50% of the same DNA. In other words, their DNA will match at that location. That’s all the green boxed locations, above.
  • Full siblings are expected to share about 25% of the same DNA from BOTH parents at the same location on BOTH copies of their chromosomes. These are fully identical regions and are boxed in purple, above.

You’ll find fully identical segments about 25% of the time in full siblings, but you won’t find fully identical segments in half-siblings. Please note that there are exceptions for ¾ siblings and endogamous populations.

You can view each match at 23andMe to see if you have any completely identical regions, shown in dark purple in the top comparison of full siblings. Half siblings are shown in the second example, with less total matching DNA and no FIR or completely identical regions.

Please note that your matching amount of DNA will probably be higher at 23andMe than at other companies because:

  • 23andMe includes the X chromosome in the match totals
  • 23andMe counts fully identical matching regions twice. For full siblings, that’s an additional 25%

Therefore, a full sibling with an X match will have a higher total cM at 23andMe than the same siblings elsewhere because not only is the X added into the total, the FIR match region is added a second time too.

Fully Identical Regions (FIR) and Half Identical Regions (HIR) at GEDmatch

At GEDMatch, you can compare two people to each other, with an option to display the matching information and a painted graphic for each chromosome that includes FIR and HIR.

If you need to know if you and a match share fully identical regions and you haven’t tested at 23andMe, you can both upload your DNA data file to GEDmatch and use their One to One Autosomal DNA Comparison.

On the following page, simply enter both kit numbers and accept the defaults, making sure you have selected one of the graphics options.

While GEDmatch doesn’t specifically tell you whether someone is a full or half sibling, you can garner additional information about the relationship based on the graphic at GEDmatch.

GEDMatch shows both half and fully identical regions.

The above match is between two full siblings using a 7 cM threshold. The blue on the bottom bar indicates a match of 7 cM or larger. Black means no match.

The green regions in the top bar indicate places where these two people carry the same DNA on both copies of their chromosome 1. This means that both people inherited the same DNA from BOTH parents on the green segments.

In the yellow regions, the siblings inherited the same DNA from ONE parent, but different DNA in that region from the other parent. They do match each other, just on one of their chromosomes, not both.

Without a tool like this to differentiate between HIR and FIR, you can’t tell if you’re matching someone on one copy of your chromosome, or on both copies.

In the areas marked with red on top, which corresponds to the black on the bottom band, these two siblings don’t match each other because they inherited different DNA from both parents in that region. The yellow in that region is too scattered to be significant.

Full siblings generally share a significant amount of FIR, or fully identical regions of DNA – about 25%.

Half siblings will share NO significant amount of FIR, although some will be FIR on very small, scattered green segments simply by chance, as you can see in the example, below.

This half-sibling match shares no segments large enough to be a match (7 cM) in the black section. In the blue matching section, only a few small green fragments of DNA match fully, which, based on the rest of that matching segment, must be identical by chance or misreads. There are no significant contiguous segments of fully identical DNA.

When dealing with full or half-siblings, you’re not interested in small, scattered segments of fully identical regions, like those green snippets on chromosome 6, but in large contiguous sections of matching DNA like the chromosome 1 example.

GEDmatch can help when you match when a vendor does not provide FIR/HIR information, and you need additional assistance.

Next, let’s look at full and half-siblings at FamilyTreeDNA

Sibling Matches at FamilyTreeDNA

FamilyTreeDNA does identify full siblings.

Relationships other than full siblings are indicated by a range. The two individuals below are both half-sibling matches to the tester.

The full range when mousing over the relationship ranges is shown below.

DNAPainter agrees except also gives full siblings as an option for the two half-siblings.

FamilyTreeDNA also tells you if you have an X match and the size of your X match.

We will talk about X matching in a minute, which, when dealing with sibling identification, can turn out to be very important.

Sibling Matches at MyHeritage

MyHeritage indicates brother or sister for full siblings

MyHeritage provides other “Estimated relationships” for matches too small to be full siblings.

DNAPainter’s chart agrees with this classification, except adds additional relationship possibilities.

Be sure to review all of the information provided by each vendor for close relationships.

View Close Known Relationships

The next easiest step to take is to compare your full or half-sibling match to known close family members from your maternal and paternal sides, respectively. The closer the family members, the better.

It’s often not possible to determine if someone is a half sibling or a full sibling by centiMorgans (cMs) alone, especially if you’re searching for unknown family members.

Let’s start with the simplest situation first.

Let’s say both of your parents have tested, and of course, you match both of them as parents.

Your new “very close match” is in the sibling range.

The first thing to do at each vendor is to utilize that vendor’s shared matches tool and see whether your new match matches one parent, or both.

Here’s an example.

Close Relationships at FamilyTreeDNA

This person has a full sibling match, but let’s say they don’t know who this is and wants to see if their new sibling matches one or both of their parents.

Select the match by checking the box to the left of the match name, then click on the little two-person icon at far right, which shows “In Common” matches

You can see on the resulting shared match list that both of the tester’s parents are shown on the shared match list.

Now let’s make this a little more difficult.

No Parents, No Problem

Let’s say neither of your parents has tested.

If you know who your family is and can identify your matches, you can see if the sibling you match matches other close relatives on both or either side of your family.

You’ll want to view shared matches with your closest known match on both sides of your tree, beginning with the closest first. Aunts, uncles, first cousins, etc.

You will match all of your family members through second cousins, and 90% of your third cousins. You can view additional relationship percentages in the article, How Much of Them is in You?.

I recommend, for this matching purpose, to utilize 2nd cousins and closer. That way you know for sure if you don’t share them as a match with your sibling, it’s because the sibling is not related on that side of the family, not because they simply don’t share any DNA due to their distance.

In this example, you have three sibling matches. Based on your and their matches to the same known first and second cousins, you can see that:

  • Sibling 1 is your full sibling, because you both match the same maternal and paternal first and second cousins
  • Sibling 2 is your paternal half-sibling because you both match paternal second cousins and closer, but not maternal cousins.
  • Sibling 3 is your maternal half-sibling because you both match maternal second cousins and closer, but not paternal cousins.

Close Relationships at Ancestry

Neither of my parents have tested, but my first cousin on my mother’s side has. Let’s say I have a suspected sibling or half-sibling match, so I click on the match’s name, then on Shared Matches.

Sure enough, my new match also matches my first cousin that I’ve labeled as “on my mother’s side.”

If my new match in the sibling range also matches my second cousins or closer on my father’s side, the new match is a full sibling, not a half-sibling.

Close Relationships at MyHeritage

Comparing my closest match provided a real surprise. I wonder if I’ve found a half-sibling to my mother.

Now, THIS is interesting.

Hmmm. More research is needed, beginning with the age of my match. MyHeritage provides ages if the MyHeritage member authorizes that information to be shared.

Close Relationships at 23andMe

Under DNA Relatives, click on your suspected sibling match, then scroll down and select “Find Relatives in Common.”

The Relatives in Common list shows people that match both of you.

The first common match is very close and a similar relationship to my closest match on my father’s side. This would be expected of a sibling. I have no common matches with this match to anyone on my mother’s side, so they are only related on my father’s side. Therefore they are a paternal half-sibling, not a full sibling.

More Tools Are Available

Hopefully, by now, you’ve been able to determine if your mystery match is a sibling, and if so, if they are a half or full sibling, and through which parent.

We have some additional tools that are relevant and can be very informative in some circumstances. I suggest utilizing these tools, even if you think you know the answer.

In this type of situation, there’s no such thing as too much information.

X Matching

X matching, or lack thereof, may help you determine how you are related to someone.

There are two types of autosomal DNA. The X chromosome versus chromosomes 1-22. The X chromosome (number 23) has a unique inheritance path that distinguishes it from your other chromosomes.

The X chromosome inheritance path also differs between men and women.

Here’s my pedigree chart in fan form, highlighting the ancestors who may have contributed a portion of their X chromosome to me. In the closest generation, this shows that I inherited an X chromosome from both of my parents, and who in each of their lines could have contributed an X to them.

The white or uncolored positions, meaning ancestors, cannot contribute any portion of an X chromosome to me based on how the X chromosome is inherited.

You’ll notice that my father inherited none of his X chromosome from any of his paternal ancestors, so of course, I can’t inherit what he didn’t inherit. There are a very limited number of ancestors on my father’s side whom I can inherit any portion of an X chromosome from.

Men receive their Y chromosome from their fathers, so men ONLY receive an X chromosome from their mother.

Therefore, men MUST pass their mother’s X chromosome on to their female offspring because they don’t have any other copy of the X chromosome to pass on.

Men pass no X chromosome to sons.

We don’t need to worry about a full fan chart when dealing with siblings and half-siblings.

We only need to be concerned with the testers plus one generation (parents) when utilizing the X chromosome in sibling situations.

These two female Disney Princesses, above, are full siblings, and both inherited an X chromosome from BOTH their mother and father. However, their father only has one X (red) chromosome to give them, so the two females MUST match on the entire red X chromosome from their father.

Their mother has two X chromosomes, green and black, to contribute – one from each of her parents.

The full siblings, Melody, and Cinderella:

  • May have inherited some portion of the same green and black X chromosomes from their mother, so they are partial matches on their mother’s X chromosome.
  • May have inherited the exact same full X chromosome from their mother (both inherited the entire green or both inherited the entire black), so they match fully on their mother’s X chromosome.
  • May have inherited the opposite X from different maternal grandparents. One inherited the entire green X and one inherited the entire black X, so they don’t match on their mother’s X chromosome.

Now, let’s look at Cinderella, who matches Henry.

This female and male full sibling match can’t share an X chromosome on the father’s side, because the male’s father doesn’t contribute an X chromosome to him. The son, Henry, inherited a Y chromosome instead from his father, which is what made them males.

Therefore, if a male and female match on the X chromosome, it MUST be through HIS mother, but could be through either of her parents. In a sibling situation, an X match between a male and female always indicates the mother.

In the example above, the two people share both of their mother’s X chromosomes, so are definitely (at least) maternally related. They could be full siblings, but we can’t determine that by the X chromosome in this situation, with males.

However, if the male matches the female on HER father’s X chromosome, there a different message, example below.

You can see that the male is related to the female on her father’s side, where she inherited the entire magenta X chromosome. The male inherited a portion of the magenta X chromosome from his mother, so these two people do have an X match. However, he matches on his mother’s side, and she matches on her father’s side, so that’s clearly not the same parent.

  • These people CAN NOT be full siblings because they don’t match on HER mother’s side too, which would also be his mother’s side if they were full siblings.
  • They cannot be maternal half-siblings because their X DNA only matches on her father’s side, but they wouldn’t know that unless she knew which side was which based on share matches.
  • They cannot be paternal half-siblings because he does not have an X chromosome from his father.

They could, however, be uncle/aunt-niece/nephew or first cousins on his mother’s side and her father’s side. (Yes, you’re definitely going to have to read this again if you ever need male-female X matching.)

Now, let’s look at X chromosome matching between two males. It’s a lot less complicated and much more succinct.

Neither male has inherited an X chromosome from their father, so if two males DO match on the X, it MUST be through their mother. In terms of siblings, this would mean they share the same mother.

However, there is one slight twist. In the above example, you can see that the men inherited a different proportion of the green and black X chromosomes from their common mother. However, it is possible that the mother could contribute her entire green X chromosome to one son, Justin in this example, and her entire black X chromosome to Henry.

Therefore, even though Henry and Justin DO share a mother, their X chromosome would NOT match in this scenario. This is rare but does occasionally happen.

Based on the above examples, the X chromosome may be relevant in the identification of full or half siblings based on the sexes of the two people who otherwise match at a level indicating a full or half-sibling relationship.

Here’s a summary chart for sibling X matching.

X Match Female Male
Female Will match on shared father’s full X chromosome, mother’s X is the same rules as chromosomes 1-22 Match through male’s mother, but either of female’s parents. If the X match is not through the female’s mother, they are not full siblings nor maternal half-siblings. They cannot have an X match through the male’s father. They are either full or half-siblings through their mother if they match on both of their mother’s side. If they match on his mother’s side, and her father’s side, they are not siblings but could be otherwise closely related.
Male Match through male’s mother, but either of female’s parents. If the X match is not through the female’s mother, they are not full siblings nor maternal half-siblings. They cannot have an X match through the male’s father. They are either full or half-siblings through their mother if they match on both or their mother’s side. If they match on his mother’s side, and her father’s side, they are not siblings but could be otherwise closely related. Both males are related on their mother’s side – either full or half-siblings.

Here’s the information presented in a different way.

DOES match X summary:

  • If a male DOES match a female on the X, he IS related to her through HIS mother’s side, but could match her on her mother or father’s side. If their match is not through her mother, then they are not full siblings nor maternal half-siblings. They cannot match through his father, so they cannot be paternal half-siblings.
  • If a female DOES match a female on the X, they could be related on either side and could be full or half-siblings.
  • If a male DOES match a male on the X, they ARE both related through their mother. They may also be related on their father’s side, but the X does not inform us of that.

Does NOT match X summary:

  • If a male does NOT match a female on the X, they are NOT related through HIS mother and are neither full siblings nor maternal half-siblings. Since a male does not have an X chromosome from his father, they cannot be paternal half-siblings based on an X match.
  • If a male does NOT match a male, they do NOT share a mother.
  • If a female does NOT match another female on the X, they are NOT full siblings and are NOT half-siblings on their paternal side. Their father only has one X chromosome, and he would have given the same X to both daughters.

Of the four autosomal vendors, only 23andMe and FamilyTreeDNA report X chromosome results and matching, although the other two vendors, MyHeritage and Ancestry, include the X in their DNA download file so you can find X matches with those files at either FamilyTreeDNA or GEDMatch if your match has or will upload their file to either of those vendors. I wrote step-by-step detailed download/upload instructions, here.

X Matching at FamilyTreeDNA

In this example from FamilyTreeDNA, the female tester has discovered two half-sibling matches, both through her father. In the first scenario, she matches a female on the full X chromosome (181 cM). She and her half-sibling MUST share their father’s entire X chromosome because he only had one X, from his mother, to contribute to both of his daughters.

In the second match to a male half-sibling, our female tester shares NO X match because her father did not contribute an X chromosome to his son.

If we didn’t know which parents these half-sibling matches were through, we can infer from the X matching alone that the male is probably NOT through the mother.

Then by comparing shared matches with each sibling, Advanced Matches, or viewing the match Matrix, we can determine if the siblings match each other and are from the same or different sides of the family.

Under Additional Tests and Tools, Advanced Matching, FamilyTreeDNA provides an additional tool that can show only X matches combined with relationships.

Of course, you’ll need to view shared matches to see which people match the mother and/or match the father.

To see who matches each other, you’ll need to use the Matrix tool.

At FamilyTreeDNA, the Matrix, located under Autosomal DNA Results and Tools, allows you to select your matches to see if they also match each other. If you have known half-siblings, or close relatives, this is another way to view relationships.

Here’s an example using my father and two paternal half-siblings. We can see that the half-siblings also match each other, so they are (at least) half-siblings on the paternal side too.

If they also matched my mother, we would be full siblings, of course.

Next, let’s use Y DNA and mitochondrial DNA.

Y DNA and Mitochondrial DNA

In addition to autosomal DNA, we can utilize Y DNA and mitochondrial DNA (mtDNA) in some cases to identify siblings or to narrow or eliminate relationship possibilities.

Given that Y DNA and mitochondrial DNA both have distinctive inheritance paths, full and half-siblings will, or will not, match under various circumstances.

Y DNA

Y DNA is passed intact from father to son, meaning it’s not admixed with any of the mother’s DNA. Daughters do not inherit Y DNA from their father, so Y DNA is only useful for male-to-male comparisons.

Two types of Y DNA are used for genealogy, STR markers for matching, and haplogroups, and both are equally powerful in slightly different ways.

Y DNA at FamilyTreeDNA

Men can order either 37 or 111 STR marker tests, or the BIg Y which provides more than 700 markers and more. FamilyTreeDNA is the only one of the vendors to offer Y DNA testing that includes STR markers and matching between men.

Men who order these tests will be compared for matching on either 37, 111 or 700 STR markers in addition to SNP markers used for haplogroup identification and assignment.

Fathers will certainly match their sons, and paternal line brothers will match each other, but they will also match people more distantly related.

However, if two men are NOT either full or half siblings on the paternal side, they won’t match at 111 markers.

If two men DON’T match, especially at high marker levels, they likely aren’t siblings. The word “likely” is in there because, very occasionally, a large deletion occurs that prevents STR matching, especially at lower levels.

Additionally, men who take the 37 or 111 marker test also receive an estimated haplogroup at a high level for free, without any additional testing.

However, if men take the Big Y-700 test, they not only will (or won’t) match on up to 700 STR markers, they will also receive a VERY refined haplogroup via SNP marker testing that is often even more sensitive in terms of matching than STR markers. Between these two types of markers, Y DNA testing can place men very granularly in relation to other men.

Men can match in two ways on Y DNA, and the results are very enlightening.

If two men match on BOTH their most refined haplogroup (Big Y test) AND STR markers, they could certainly be siblings or father/son. They could also be related on the same line for another reason, such as known or unknown cousins or closer relationships like uncle/nephew. Of course, Y DNA, in addition to autosomal matching, is a powerful combination.

Conversely, if two men don’t have a similar or close haplogroup, they are not a father and son or paternal line siblings.

FamilyTreeDNA offers both inexpensive entry-level testing (37 and 111 markers) and highly refined advanced testing of most of the Y chromosome (Big Y-700), so haplogroup assignments can vary widely based on the test you take. This makes haplogroup matching and interpretation a bit more complex.

For example, haplogroups R-M269 and I-BY14000 are not related in thousands of years. One is haplogroup R, and one is haplogroup I – completely different branches of the Y DNA tree. These two men won’t match on STR markers or their haplogroup.

However, because FamilyTreeDNA provides over 50,000 different haplogroups, or tree branches, for Big Y testers, and they provide VERY granular matching, two father/son or sibling males who have BOTH tested at the Big Y-700 level will have either the exact same haplogroup, or at most, one branch difference on the tree if a mutation occurred between father and son.

If both men have NOT tested at the Big Y-700 level, their haplogroups will be on the same branch. For example, a man who has only taken a 37/111 marker STR test may be estimated at R-M269, which is certainly accurate as far as it goes.

His sibling who has taken a Big Y test will be many branches further downstream on the tree – but on the same large haplogroup R-M269 branch. It’s essential to pay attention to which tests a Y DNA match has taken when analyzing the match.

The beauty of the two kinds of tests is that even if one haplogroup is very general due to no Big Y test, their STR markers should still match. It’s just that sometimes this means that one hand is tied behind your back.

Y DNA matching alone can eliminate the possibility of a direct paternal line connection, but it cannot prove siblingship or paternity alone – not without additional information.

The Advanced Matching tool will provide a list of matches in all categories selected – in this case, both the 111 markers and the Family Finder test. You can see that one of these men is the father of the tester, and one is the full sibling.

You can view haplogroup assignments on the public Y DNA tree, here. I wrote about using the public tree, here.

In addition, recently, FamilyTreeDNA launched the new Y DNA Discover tool, which explains more about haplogroups, including their ages and other fun facts like migration paths along with notable and ancient connections. I wrote about using the Discover tool, here.

Y DNA at 23andMe

Testers receive a base haplogroup with their autosomal test. 23andMe tests a limited number of Y DNA SNP locations, but they don’t test many, and they don’t test STR markers, so there is no Y DNA matching and no refined haplogroups.

You can view the haplogroups of your matches. If your male sibling match does NOT share the same haplogroup, the two men are not paternal line siblings. If two men DO share the same haplogroup, they MIGHT be paternal siblings. They also might not.

Again, autosomal close matching plus haplogroup comparisons include or exclude paternal side siblings for males.

Paternal side siblings at 23andMe share the same haplogroup, but so do many other people. These two men could be siblings. The haplogroups don’t exclude that possibility. If the haplogroups were different, that would exclude being either full or paternal half-siblings.

Men can also compare their mitochondrial DNA to eliminate a maternal relationship.

These men are not full siblings or maternal half-siblings. We know, unquestionably, because their mitochondrial haplogroups don’t match.

23andMe also constructs a genetic tree, but often struggles with close relative placement, especially when half-relationships are involved. I do not recommend relying on the genetic tree in this circumstance.

Mitochondrial DNA

Mitochondrial DNA is passed from mothers to all of their children, but only females pass it on. If two people, males or females, don’t match on their mitochondrial DNA test, with a couple of possible exceptions, they are NOT full siblings, and they are NOT maternal half-siblings.

Mitochondrial DNA at 23andMe

23andMe provides limited, base mitochondrial haplogroups, but no matching. If two people don’t have the same haplogroup at 23andMe, they aren’t full or maternal siblings, as illustrated above.

Mitochondrial DNA at FamilyTreeDNA

FamilyTreeDNA provides both mitochondrial matching AND a much more refined haplogroup. The full sequence test (mtFull), the only version sold today, is essential for reliable comparisons.

Full siblings or maternal half-siblings will always share the same haplogroup, regardless of their sex.

Generally, a full sibling or maternal half-sibling match will match exactly at the full mitochondrial sequence (FMS) level with a genetic distance of zero, meaning fully matching and no mismatching mutations.

There are rare instances where maternal siblings or even mothers and children do not match exactly, meaning they have a genetic distance of greater than 0, because of a mutation called a heteroplasmy.

I wrote about heteroplasmies, here.

Like Y DNA, mitochondrial DNA cannot identify a sibling or parental relationship without additional evidence, but it can exclude one, and it can also provide much-needed evidence in conjunction with autosomal matching. The great news is that unlike Y DNA, everyone has mitochondrial DNA and it comes directly from their mother.

Once again, FamilyTreeDNA’s Advanced Matching tool provides a list of people who match you on both your mitochondrial DNA test and the Family Finder autosomal test, including transfers/uploads, and provides a relationship.

You can see that our tester matches both a full sibling and their mother. Of course, a parent/child match could mean that our tester is a female and one of her children, of either sex, has tested.

Below is an example of a parent-child match that has experienced a heteroplasmy.

Based on the comparison of both the mitochondrial DNA test, plus the autosomal Family Finder test, you can verify that this is a close family relationship.

You can also eliminate potential relationships based on the mitochondrial DNA inheritance path. The mitochondrial DNA of full siblings and maternal half-siblings will always match at the full sequence and haplogroup level, and paternal half-siblings will never match. If paternal half-siblings do match, it’s happenstance or because of a different reason.

Sibling Summary and Checklist

I’ve created a quick reference checklist for you to use when attempting to determine whether or not a match is a sibling, and, if so, whether they are half or full siblings. Of course, these tools are in addition to the DNAPainter Shared cM Tool and GEDmatch’s Relationship Predictor Calculator.

FamilyTreeDNA Ancestry 23andMe MyHeritage GEDmatch
Matching Yes Yes Yes Yes Yes
Shared Matches Yes – In Common With Yes – Shared Matches Yes – Relatives in Common Yes – Review DNA Match Yes – People who match both or 1 of 2 kits
Relationship Between Shared Matches No No No Yes, under shared match No
Matches Match Each Other* Yes, Matrix No Yes, under “View DNA details,” then, “compare with more relatives” Partly, through triangulation Yes, can match any kits
Full Siblings Yes Sibling, implies full Yes Brother, Sister, means full No
Half Siblings Sibling, Uncle/Aunt-Niece/Nephew, Grandparent-Grandchild Close Family – 1C Yes Half sibling, aunt/uncle-niece-nephew No
Fully Identical Regions (FIR) No No Yes No Yes
Half Identical Regions (HIR) No No Yes No Yes
X matching Yes No Yes No Yes
Unusual Reporting or Anomalies No No, Timber is not used on close relationships X match added into total, FIR added twice No Matching amount can vary from vendors
Y DNA Yes, STRs, refined haplogroups, matching No High-level haplogroup only, no matching No No, only if tester enters haplogroup manually
Mitochondrial DNA Yes, full sequence, matching, refined haplogroup No High-level haplogroup only, no matching No No, only if tester enters haplogroup manually
Combined Tools (Autosomal, X, Y, mtDNA) Yes No No No No

*Autoclusters through Genetic Affairs show cluster relationships of matches to the tester and to each other, but not all matches are included, including close matches. While this is a great tool, it’s not relevant for determining close and sibling relationships. See the article, AutoClustering by Genetic Affairs, here.

Additional Resources

Some of you may be wondering how endogamy affects sibling numbers.

Endogamy makes almost everything a little more complex. I wrote about endogamy and various ways to determine if you have an endogamous heritage, here.

Please note that half-siblings with high cM matches also fall into the range of full siblings (1613-3488), with or without endogamy. This may be, but is not always, especially pronounced in endogamous groups.

As another resource, I wrote an earlier article, Full or Half Siblings, here, that includes some different examples.

Strategy

You have a lot of quills in your quiver now, and I wish you the best if you’re trying to unravel a siblingship mystery.

You may not know who your biological family is, or maybe your sibling doesn’t know who their family is, but perhaps your close relatives know who their family is and can help. Remember, the situation that has revealed itself may be a shock to everyone involved.

Above all, be kind and take things slow. If your unexpected sibling match becomes frightened or overwhelmed, they may simply check out and either delete their DNA results altogether or block you. They may have that reaction before you have a chance to do anything.

Because of that possibility, I recommend performing your analysis quickly, along with taking relevant screenshots before reaching out so you will at least have that much information to work with, just in case things go belly up.

When you’re ready to make contact, I suggest beginning by sending a friendly, short, message saying that you’ve noticed that you have a close match (don’t say sibling) and asking what they know about their family genealogy – maybe ask who their grandparents are or if they have family living in the area where you live. I recommend including a little bit of information about yourself, such as where you were born and are from.

I also refrain from using the word adoption (or similar) in the beginning or giving too much detailed information, because it sometimes frightens people, especially if they know or discover that there’s a painful or embarrassing family situation.

And, please, never, ever assume the worst of anyone or their motives. They may be sitting at their keyboard with the same shocked look on their face as you – especially if they have, or had, no idea. They may need space and time to reach a place of acceptance. There’s just nothing more emotionally boat-capsizing in your life than discovering intimate and personal details about your parents, one or both, especially if that discovery is disappointing and image-altering.

Or, conversely, your sibling may have been hoping and waiting just for you!

Take a deep breath and let me know how it goes!

Please feel free to share this article with anyone who could benefit.

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In Search of…Vendor Features, Strengths, and Testing Strategies

This is the third in our series of articles about searching for unknown close family members, specifically; parents, grandparents, or siblings. However, these same techniques can be applied to ancestors further back in time too.

In this article, we are going to discuss your goals and why testing or uploading to multiple vendors is advantageous – even if you could potentially solve the initial mystery at one vendor. Of course, the vendor you test with first might not be the vendor where the mystery will be solved, and data from multiple vendors might just be the combination you need.

Testing Strategy – You Might Get Lucky

I recommended in the first article that you go ahead and test at the different vendors.

Some people asked why, and specifically, why you wouldn’t just test at one vendor with the largest database first, then proceed to the others if you needed to.

That’s a great question, and I want to discuss the pros and cons in this article more specifically.

Clearly, that is one strategy, but the approach you select might differ based on a variety of considerations:

  • You may only be interested in obtaining the name of the person you are seeking – or – you may be interested in finding out as much as possible.
  • You may find that your best match at one company is decidedly unhelpful, and may even block you or your efforts, while someone elsewhere may be exactly the opposite.
  • Solving your mystery may be difficult and painful at one vendor, but the answer may be infinitely easier at a different vendor where the answer may literally be waiting.
  • There may not be enough, or the right information, or matches, at any one vendor, but the puzzle may be solvable by combining information from multiple vendors and tests. Every little bit helps.
  • You may have a sense of urgency, especially if you hope to meet the person and you’re searching for parents, siblings or grandparents who may be aging.
  • You may be cost-sensitive and cannot afford more than one test at a time. Fortunately, our upload strategy helps with that too. Also, watch for vendor sales or bundles.

From the time you order your DNA test, it will be about 6-8 weeks, give or take a week or two in either direction, before you receive results.

When those results arrive, you might get lucky, and the answer you seek is immediately evident with no additional work and just waiting for you at the first testing company.

If that’s the case, you got lucky and hit the jackpot. If you’re searching for both parents, that means you still have one parent to go.

Unidentified grandparents can be a little more difficult, because there are four of them to sort between.

If you discover a sibling or half-sibling, you still need to figure out who your common parent is. Sometimes X, Y, and mitochondrial DNA provides an immediate answer and is invaluable in these situations.

It’s more likely that you’ll find a group of somewhat more distant relatives. You may be able to figure out who your common grandparents or great-grandparents are, but not your parent(s) initially. Often, the closer generation or two is actually the most difficult because you’re dealing with contemporary records which are not publicly available, fewer descendants, and the topic may be very uncomfortable for some people. It’s also complicated because you’re often not dealing with “full” relationships, but “half,” as in half-sibling, half-niece, half-1C, etc.

You may spend a substantial amount of time trying to solve this puzzle at the first vendor before ordering your next test.

That second test will also take about 6-8 weeks, give or take. I recommend that you order the first two autosomal tests, now.

Order Your First Two Autosomal Tests

The two testing companies with the largest autosomal databases for comparison, Ancestry, and 23andMe, DO NOT accept DNA file uploads from other companies, so you’ll need to test with each individually.

Fortunately, you CAN transfer your autosomal DNA tests to both MyHeritage and FamilyTreeDNA, for free.

You will have different matches at each company. Some people will be far more responsive and helpful than others.

I recommend that you go ahead and order both the Ancestry and 23andMe tests initially, then upload the first one that comes back with results to both FamilyTreeDNA and MyHeritage. Complete, step-by-step download/upload instructions can be found here.

You can also upload your DNA file to a fifth company, Living DNA, but they are significantly smaller and heavily focused on England and Great Britain. However, if that’s where you’re searching, this might be where you find important matches.

You can also upload to GEDMatch, a popular third-party database, but since you’re going to be in the databases of the four major testing companies, there is little to be gained at GEDMatch in terms of people who have not tested at one of the major companies. Do NOT upload to GEDMatch INSTEAD of testing or uploading to the four major sites, as GEDMatch only has a small fraction of the testers in each of the vendor databases.

What GEDMatch does offer is a chromosome browser – something that Ancestry does NOT offer, along with other clustering tools which you may find useful. I recommend GEDMatch in addition to the others, if needed or desired.

Ordering Y and Mitochondrial DNA Tests

We reviewed the basics of the different kinds of DNA, here.

Some people have asked why, if autosomal DNA shows relatives on all of your lines, would one would want to order specific tests that focus on just one line?

It just so happens that the two lines that Y and mitochondrial DNA test ARE the two lines you’re seeking – direct maternal – your mother (and her mother), and direct paternal, your father (and his father.)

These two tests are different kinds of DNA tests, testing a different type of DNA, and provide very focused information, and matches, not available from autosomal DNA tests.

For men, Y DNA can reveal your father’s surname, which can be an invaluable clue in narrowing paternal candidates. Knowing that my brother’s Y DNA matched several men with the surname of Priest made me jump for joy when he matched a woman of that same last name at another vendor.

Here’s a quote from one of the members of a Y DNA project where I’m the volunteer administrator:

“Thank you for your help understanding and using all 4 kinds of my DNA results. By piecing the parts together, I identified my father. Specifically, without Y DNA testing, and the Big Y test, I would not have figured out my parental connection, and then that my paternal line had been assigned to the wrong family. STR testing gave me the correct surname, but the Big Y test showed me exactly where I fit, and disproved that other line. I’m now in touch with my father, and we both know who our relatives are – two things that would have never happened otherwise.”

If you fall into the category of, “I want to know everything I can now,” then order both Y and mitochondrial DNA tests initially, along with those two autosomal tests.

You will need to order Y (males only) and mitochondrial DNA tests separately from the autosomal Family Finder test, although you should order on the same account as your Family Finder test at FamilyTreeDNA.

If you take the Family Finder autosomal test at FamilyTreeDNA or upload your autosomal results from another vendor, you can simply select to add the Y and mitochondrial DNA tests to your account, and they will send you a swab kit.

Conversely, you can order either a Y or mitochondrial DNA test, and then add a Family Finder or upload a DNA file if you’ve already taken an autosomal DNA test to that account too. Note – these might not be current prices – check here for sales.

You will want all 3 of your tests on the same account so that you can use the Advanced Matches feature.

Using Advanced Matches, you’ll be able to view people who match you on combinations of multiple kinds of tests.

For example, if you’re a male, you can see if your Y DNA matches also match you on the Family Finder autosomal test, and if so, how closely?

Here’s an example.

In this case, I requested matches to men with 111 markers who also match the tester on the Family Finder test. I discovered both a father and a full sibling, plus a few more distant matches. There were ten total combined matches to work with, but I’ve only shown five for illustration purposes.

This information is worth its weight in gold.

Is the Big Y Test Worth It?

People ask if the Big Y test is really worth the extra money.

The answer is, “it depends.”

If all you’re looking for are matching surnames, then the answer is probably no. A 37 or 111 marker test will probably suffice. Eventually, you’ll probably want to do the Big Y, though.

If you’re looking for exact placement on the tree, with an estimated distance to other men who have taken that test, then the answer is, “absolutely.” I wish the Big Y test had been available back when I was hunting for my brother’s biological family.

The Big Y test provides a VERY specific haplogroup and places you very accurately in your location on the Y DNA tree, along with other men of your line, assuming they have tested. You may find the surname, as well as being placed within a generation or a few of current in that family line.

Additionally, the Discover page provides estimates of how far in the past you share a common ancestor with other people that share the same haplogroup. This can be a HUGE boon to a male trying to figure out his surname line and how closely in time he’s related to his matches.

Big Y NPE Examples

Y DNA SNP mutations tested with the Big Y test accrue a mutation about every generation, or so. Sometimes we see mutations in every generation.

Here’s an example from my Campbell line. Haplogroups are listed in the top three rows.

I created this spreadsheet, but FamilyTreeDNA provides a block tree for Big Y testers. I’ve added the genealogy of the testers, with the various Big Y testers at the bottom and common ancestors above, in bold.

We have two red NPE lines showing. The MacFarlane tester matches M. Campbell VERY closely, and two Clark males match W. Campbell and other Campbells quite closely. We utilized autosomal plus the Y results to determine where the unknown parentage events occurred. Today, if you’re a Clark or MacFarlane male, or a male by any other surname who was fathered by a Y chromosome Campbell male (by any surname), you’ll know exactly where you fit in this group of testers on your direct paternal line.

Y DNA is important because men often match other men with the same surname, which is a HUGE clue, especially in combination with autosomal DNA results. I say “often,” because it’s possible that no one in your line has tested, or that your father’s surname is not his biological surname either.

Y and mitochondrial DNA matches can be HUGELY beneficial pieces of information either by confirming a close autosomal relationship on that line, or eliminating the possibility.

Lineage-Specific Population Information

In addition to matching other people, both Y and mitochondrial DNA tests provide you with lineage-specific population or “ethnicity” information for this specific line which helps you focus your research.

For example, if you view the Y DNA Haplogroup Origins shown for this tester, you’ll discover that these matches are Jewish.

The tester might not be Jewish on any other genealogical line, but they definitely have Jewish ancestry on their Y DNA, paternal, line.

The same holds true for mitochondrial DNA as well. The main difference with mitochondrial DNA is that the surname changes with each generation, haplogroups today (pre-Million Mito) are less specific, and fewer people have been tested.

Y and Mitochondrial DNA Benefits

Knowing your Y and mitochondrial DNA haplogroups not only arm you with information about yourself, they provide you with matching tools and an avenue to include or exclude people as your direct line paternal or maternal ancestors.

Your Y and mitochondrial DNA can also provide CRITICALLY IMPORTANT information about whether that direct line ancestor belonged to an endogamous population, and where they came from.

For example, both Jewish and Native populations are endogamous populations, meaning highly intermarried for many generations into the past.

Knowing that helps you adjust your autosomal relationship analysis.

Why Order Multiple Tests Initially Instead of Waiting?

If you’ve been adding elapsed time, two autosomal tests (Ancestry and 23andMe), two uploads (to FamilyTreeDNA and MyHeritage,) a Y DNA test, and a mitochondrial DNA test, if all purchased serially, one following the other, means you’ll be waiting approximately 6-8 months.

Do you want to wait 6-8 months for all of your results? Can you afford to?

Part of this answer has to do with what, exactly, you’re seeking, and how patient you are.

Only you can answer that question.

A Name or Information?

Are you seeking the name or identity of a person, or are you seeking information about that person?

Most people don’t just want to put a name to the person they are seeking – they want to learn about them and the rest of the family that door opens.

You will have different matches at each company. Even after you identify the person you seek, the people you match may have trees you can view, with family photos and other important information. (Remember, you can’t see living people in trees.) Your matches may have first-person information about your relative and may know them if they are living, or have known them.

Furthermore, you may have the opportunity to meet that person. Time delayed may not be able to be recovered or regained.

One cousin that I assisted discovered that his father had died just six weeks before he broke through that wall and made the connection.

Working with data from all vendors simultaneously will allow you to combine that data and utilize it together. Using your “best” matches at each company, augmented by X, Y, and/or mitochondrial DNA, can make MUCH shorter work of this search.

Your closest autosomal matches are the most important and insightful. In this series, I will be working with the top 15 autosomal results at each vendor, at least initially. This approach provides me with the best chance of meaningful close relationship discoveries.

Data and Vendor Results Integration

Here’s a table of my two closest maternal and paternal matches at the four major vendors. I can assign these to maternal or paternal sides, because I know the identity of my parents, and I know some of these people. If an adoptee was doing this, the top 4 could all be from one parent, which is why we work with the top 15 or so matches.

Vendor Closest Maternal Closest Paternal Comments
Ancestry 1C, 1C1R Half-1C, 2C I recognized both of the maternal and neither of the paternal.
23andMe 2C, 2C 1C1R, half-gr-niece Recognized both maternal, one paternal
MyHeritage Mother uploaded, 1C Half-niece, half-1C Recognized both maternal, one paternal
FamilyTreeDNA Mother tested, 1C1R Parent/child, half-gr-niece uploaded Recognized all 4

To be clear, I tested my mother’s mitochondrial DNA before she passed away, but because FamilyTreeDNA archives DNA samples for 25 years, as the owner/manager of her DNA kit, I was able to order the Family Finder test after she had passed away. Her tests are invaluable today.

Then, years later, I uploaded her results to MyHeritage.

If I was an adopted child searching for my mother, I would find her results in both databases today. She’ll never be at either 23andMe or Ancestry because she passed away before she could test there and they don’t accept uploads.

Looking at the other vendors, my half-niece at MyHeritage is my paternal half-sibling’s daughter. My half-sibling is deceased, so this is as close as I’ll ever get to matching her.

At 23andMe, the half-great-niece is my half-siblings grandchild.

It’s interesting that I have no matches to descendants of my other half-sibling, who is also deceased. Maybe I should ask if any of his children or grandchildren have tested. Hmmmm…..

You can see that I stand a MUCH BETTER chance of figuring out close relatives using the combined closest matches of all four databases instead of the top matches from just one database. It doesn’t matter if the database is large if the right person or people didn’t test there.

Combine Resources

I’ll be providing analysis methodologies for working with results from all of the vendors together, just in case your answer is not immediately obvious. Taking multiple DNA tests facilitates using all of these tools immediately, not months later. Solving the puzzle sooner means you may not miss valuable opportunities.

You may also discover that the door slams shut with some people, or they may not respond to your queries, but another match may be unbelievably helpful. Don’t limit your possibilities.

Let’s take a look at the strengths of each vendor.

Vendor Strengths and Things to Know

Every vendor has product strengths and idiosyncracies that the others do not. All vendors provide matches and shared matches. Each vendor provides ethnicity tools which certainly can be useful, but the features differ and will be covered elsewhere.

  • AncestryAncestry has the largest autosomal database and includes ThruLines, but no Y or mitochondrial DNA testing, no clusters, no chromosome browser, no triangulation, and no X chromosome matching or reporting. Ancestry provides genealogical records, advanced tools, and full tree access to your matches’ trees with an Ancestry subscription. Ancestry does not allow downloading your match list or segment match information, but the other vendors do.
  • 23andMe 23andMe has the second largest database. They provide triangulation and genetic trees that include your closest matches. Many people test at 23andMe for health and wellness information, so 23andMe has people in their database who are not specifically interested in genealogy and probably won’t have tested elsewhere, but may be invaluable to your search. 23andMe provides Y and mtDNA high-level haplogroups only, but no matching or other haplogroup information. If you purchase a new test or have a V5 ancestry+health current test, you can expand your matches from a limit of 1500 to about 5000 with an annual membership. For seeking close relatives, you don’t need those features, but you may want them for genealogy. 23andMe is the only vendor that limits their customers’ matches.
  • MyHeritageMyHeritage has the third largest database that includes lots of European testers. MyHeritage provides triangulation, Theories of Family Relativity, and an integrated cluster tool* but does not report X matches and does not offer Y or mitochondrial DNA testing. MyHeritage accepts autosomal DNA file uploads from other testing companies for free and provides access to advanced DNA features for a one-time unlock fee. MyHeritage includes genealogical records and full feature access to advanced DNA tools with a Complete Subscription. (Free 15 days trial subscription, here.)
  • FamilyTreeDNA Family Finder (autosomal)FamilyTreeDNA is the oldest DNA testing company, meaning their database includes people who initially tested 20+ years ago and have since passed away. This, in essence, gets you one generation further back in time, with the possibility of stronger matches. Their Family Matching feature buckets and triangulates your matches, assigning them to your maternal or paternal sides if you link known matches to their proper place in your tree, even if your parents have not tested. FamilyTreeDNA accepts uploads from other testing companies for free and provides advanced DNA features for a one time unlock fee.
  • FamilyTreeDNAFamilyTreeDNA is the only company that offers both Y and mitochondrial DNA testing products that include matching, integration with autosomal test results, and other tools. These two tests are lineage-specific and don’t have to be sorted from your other ancestral lines.

I wrote about using Y DNA results, here.

I wrote about using mitochondrial DNA results, here.

*Third parties such as Genetic Affairs provide clustering tools for both 23andMe and FamilyTreeDNA. Clustering is integrated at MyHeritage. Ancestry does not provide a tool for nor allow third-party clustering. If the answer you seek isn’t immediately evident, Genetic Affairs clustering tools group people together who are related to each other, and you, and create both genetic and genealogical trees based on shared matches. You can read more about their tools, here.

Fish in all the Ponds and Use All the Bait Possible

Here’s the testing and upload strategy I recommend, based on the above discussion and considerations. The bottom line is this – if you want as much information as possible, as quickly as possible, order the four tests in red initially. Then transfer the first autosomal test results you receive to the two companies identified in blue. Optionally, GEDMatch may have tools you want to work with, but they aren’t a testing company.

What When Ancestry 23andMe MyHeritage FamilyTreeDNA
Order autosomal Initially X X    
Order Y 111 or Big-Y DNA test if male Initially       X
Order mitochondrial DNA test Initially if desired       X
Upload free autosomal When Ancestry or 23andMe results are available     X X
Unlock Advanced Tools When you upload     $29 $19
Optional GEDMatch free upload If desired, can subscribe for advanced tools

When you upload an autosomal DNA file to a vendor site, only upload one file per site, per tester. Otherwise, multiple tests simply glom up everyone’s match list with multiple matches to the same person.

Multiple vendor sites will hopefully provide multiple close matches, which increase your opportunity to discover INFORMATION about your family, not just the identity of the person you seek.

Or maybe you prefer to wait and order these DNA tests serially, waiting until one set of results is back and you’re finished working with them before ordering the next one. If so, that means you’re a MUCH more patient person than me. 😊

Our next article in this series will be about endogamy, how to know if it applies to you, and what that means to your search.

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Thank you so much.

DNA Purchases and Free Uploads

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Genealogy Research

STRs and SNPs – Are STR Markers Still Useful for Y DNA?

Some time back, I wrote an article titled, STRs vs SNPs, Multiple DNA Personalities, which you can read, here. In that article, I explained the difference between STR and SNP markers.

Y DNA is extremely useful for men to track their direct paternal line via the Y chromosome that they inherited from their father. You can see how various types of DNA are inherited, here. By way of comparison, mitochondrial DNA (red) is inherited from your matrilineal line, and autosomal DNA (green) is inherited from all lines.

The Y chromosome, shown in blue above, is passed from father to son without mixing with the DNA of the mother, so it is in essence tracked intact for generations – with the exception of occasional mutations.

Two kinds of mutations make Y DNA genealogically useful. They are STRs, short tandem repeat markers and SNPs, single nucleotide polymorphisms, pronounced as “snips.” If you’re looking for in-depth information about Y DNA, I have provided a Y DNA resource guide here.

How is Y DNA Useful?

For Estes males, we have identified several genetic lineages using these markers that show us where testers fit into the tree of Estes males, which of course in turn fits into the larger tree of mankind.

In some cases, Y DNA is the only clue people have as to their genealogy. In other situations, these tests confirm and further refine both the genetic tree and genealogy.

Let’s look at how these two types of Y DNA markers work, separately and together at FamilyTreeDNA.

STR Markers, Results and Matching

Y DNA STR results are returned in panels when men take Y DNA tests.

Every man who takes a Y DNA test at FamilyTreeDNA receives STR results, shown above. How many marker results he receives depends on the level of the test he orders. In the past, 12, 25, 37, 67 and 111 marker tests were available to purchase individually. Men could also upgrade to higher level tests. 500 and 700 STR marker results are only available when the Big Y test has been purchased.

Today, men can order the entry level 37 Y DNA test or a 111 marker test individually. However, a minimum of 700 STR markers are included in the Big Y-700 test, in addition to SNP results, which we will talk about in a minute.

Matching is Key

However, the benefit isn’t in the STR markers themselves, but in matching to other men. The markers are just the tool used – but the more information you have, the better the result.

STR results are used to match all Y DNA testers against each other. Matches are shown at each marker level.

My Estes male cousin has tested at the Big Y 700 level. He is matched against all other men who have taken a Y DNA test. He can see who he matches at 12 through 111 markers separately. For each man that he matches, if they have taken the Big Y test, he can see how closely he matches at the 500 or 700 marker level too.

This Estes match to my Estes cousin, shown above, has tested at 111 markers, but has not taken the Big Y test, so he has no STR markers above 111. He mismatches my cousin with 1 STR marker difference at 111 markers. That’s pretty close.

Additionally, we can see that the match’s haplogroup has been estimated as R-M269 based on STR results. For a more specific haplogroup, either individual SNP markers must be tested, or an upgrade to the Big Y-700 test can be ordered. I don’t recommend individual SNP marker testing anymore because the Big Y gives you so much more for your money by scanning for all Y DNA mutations.

Big Y-700 and SNPs

The only way to obtain the most detailed Y DNA haplogroup is to take a Big Y test. The Big Y test scans the Y chromosome to search for SNP mutations. The Big Y test doesn’t test any one specific location, like STRs or individual SNP tests, but scans for all mutations – currently known and previously unknown. That’s the beauty. You don’t have to tell it what to look for. The Big Y test scans and looks for everything useful.

More than 200,000 men in the FamilyTreeDNA database have been SNP tested and more than 450,000 variants, or mutations, have been found in Big Y tests. The database grows every single day. Sometimes DNA matching is a waiting game, with your DNA available for matching 24X7. When your DNA is working for you, you just never know when that critical match will be forthcoming.

The Big Y test keeps giving over time, because new variants (mutations) are discovered and eventually named as haplogroups. Many new haplogroups are based on what can best be called family line mutations.

Initially, SNP results and haplogroups were so far up the tree that often, they weren’t genealogically relevant, but that’s NOT the case anymore.

Today, SNP results from the Big Y-700 test are sometimes MORE relevant and dependable than STR results.

Each man receives a very refined personal haplogroup, known colloquially as their terminal SNP, often FAR down the tree from the estimated haplogroup provided with STR testing alone.

After Big Y testing, my cousin is now haplogroup R-ZS3700 instead of R-M269. R-M269 was accurate as far as it went, but only the Big Y test can provide this level of detail which is quite useful.

The Block Tree Divides Lines for You

The Block Tree is provided for all Big Y testers.

Looking at the Block Tree for my cousin, you can see that he and several other primarily Estes men either share the same haplogroup or parent/child haplogroups.

My cousin in R-ZS3700, while R-BY490 is the parent haplogroup of R-ZS3700, and R-BY154784 is a child haplogroup of R-ZS3700.

R-M269 is more than 15 haplogroup branches upstream of my cousin’s R-ZS3700.

You can also easily see that Estes men fall onto different “twigs” of the tree, and those twigs are very genealogically significant. Each column above is a twig, representing a distinct genealogical lineage. Taking the Big Y test separates men into their ancestral branches which can be genealogically associated with specific men.

My cousin is R-ZS3700, along with one other man. Two more men form R-BY154784, a subgroup of R-ZS3700, which means they descend from a specific man who descends from Moses Estes. All of these men descend from R-BY490 and all of those men descend from R-BY482, the parent of R-BY490, as shown on the public haplotree, here.

Men who take the Big Y test ALSO receive separate SNP matching – meaning they have BOTH STR and SNP matching which provides testers with two separate tools to use.

Of course, the only men who will be shown as SNP matches are the men who have taken the Big Y test.

Ok, how is this information useful?

Project View

Looking at the Estes DNA project, you can see that two men who have joined the project carry haplogroup R-ZS3700. Several others descend from that same genealogical line according to their paper trail, and STR matches, but have not taken the Big Y-700 test.

As the project administrator, I’ve grouped these men by their known ancestor, and then, in some cases, I’ve used their terminal SNP to further group them. For example, one man, kit 491887, doesn’t know which Estes line he descends from, but I can confidently group him in Estes Group 4 based on his haplogroup of R-ZS3700.

I can also use STR matching and autosomal matching to further refine his match group if needed for the project. But guaranteed, he’ll need to use both of those additional tools to figure out who his Estes ancestors are.

He was absolutely thrilled to be grouped under Moses Estes, because at least now he has something to work his paper trail backwards towards.

Test Summary

Men who take STR tests alone, meaning 12-111 only, receive STR matching and an estimated haplogroup.

Men who take the Big Y test receive STR results and matches, PLUS the most refined haplogroup possible, many additional STR markers, separate SNP matches and block tree placement.

STR 12-111 Tests Only Big Y-700 Test
STR markers through 111 Yes, depending on test level purchased Yes
STR marker matching with other men Yes Yes
STR markers from 112-700 Only if the tester purchases a Big Y upgrade Yes
Estimated haplogroup Yes Haplogroup is fully tested, not estimated
Tested, most refined haplogroup Not without an upgrade to the Big Y-700 test Yes
SNP Matching No Yes
Block Tree No Yes

Genealogy

Recently, someone asked me how to use these tools separately and together. That’s a great question.

First, if there is a data conflict, SNP results are much more stable than STRs. STRs mutate much more often and sometimes back mutate to the original value which in essence looks like a mutation never happened. Furthermore, sometimes STR markers mutate to the same value independently, meaning that two men share the same mutation – making it look like they descend from the same line – but they don’t.

Before the Big Y tests were available, the only Y DNA tools we had were STR matches and individual SNP mutations. From time to time, one of the STR markers would mutate back to the original value which caused me, as a project administrator, to conclude that men without that specific line-marker mutation were not descended from that line, when in fact, that man’s line had experienced a back-mutation.

How do I know that? When the men involved both took the Big Y-700 test, they have a lineage defining haplogroup that proved that there had been a back-mutation in the STR data and the men in question were in fact from the line originally thought.

Thank goodness for the Big Y test.

STRs and SNPs Working in Tandem

Click any image to enlarge

Looking at the Estes project again, the R-ZS3700 SNP defines the Moses Estes (born 1711) line, a son of the immigrant, Abraham Estes. The men grouped together above are descendants of Moses’s great-grandson. You can see that if I were to use STR markers alone, I would have divided this group into two based on the values of the two bottom kits. However, both genealogy and SNP/haplogroups prove that indeed, the genealogy is accurate.

STR markers alone are inconclusive at best and potentially deceptive if we used only those markers without additional information.

However, we don’t always have the luxury of upgrading every man to the right and Big Y-700 test. Some testers are deceased, some don’t have enough DNA left and cannot submit a new swab, and some simply aren’t interesting.

When we don’t have the more refined Big Y test, the STR markers and matches are certainly valuable.

Furthermore, STR markers can sometimes provide lineages WITHIN haplogroups.

For example, let’s say that in the example above the two men at the bottom were a distinct line of men descended from one specific descendant of Moses Estes. If that were the case, then the STR markers would be very valuable within the R-ZS3700 haplogroup. Maybe I need to reevaluate their genealogy and see if there are any new clues available now that were not available before.

STRs Within Match Groups

Using a different example, I can’t group these Estes men any more closely based on their genealogy or SNP results.

Only two men in this group have taken a Big Y test – those with haplogroup R-BY490. Unfortunately, this haplogroup only confirms that these men descend from the Estes lineage that immigrated to America and that they are NOT from the Moses Estes line. That’s useful, but not enough.

Two other men have taken individual SNP tests, R-DF49 and R-L21 which are not useful in this context. They don’t reach far enough down the tree.

We need more information. Fortunately, we have some.

We have two clusters of STR markers. We can see that three men have a purple grouping of 24 at marker DYS390 (the header with STR marker names is not shown in the screen shot) and a grouping of men that share a mutation of 12 at marker DYS391.

It’s likely, but not a given, that the men clustered together at the bottom with the 12 value descend from the same Estes male common ancestor. The men at the top with a value of both 12 and 24 could belong to that same cluster, with an additional small cluster of 24 further delineating their ancestor – OR – the mutation to 12 at location DYS391 could have arisen independently in two separate lines.

It’s also possible that back-mutations have occurred in some of the other men. We just don’t know.

If I were to advise these men, I’d strongly suggest that they all upgrade to the Big Y-700 with the hope that at least some of them would have SNPs that define existing or new haplogroups that would positively sort their lines.

Then, within those haplogroup groups, I’d focus on STR groupings, genealogy and possibly, autosomal results.

Evaluate All Three, Separately and Together

We have three separate tools (plus autosomal) that need to be considered together as well as separately.

  1. The first, of course, is known genealogy. However, Y DNA testing works well even without genealogy.
  2. Big Y haplogroup information combined with the block tree should be evaluated to define genetic lineages.
  3. STR groupings need to be evaluated separately from and within haplogroups and allow us to add people to the SNP-defined groups of testers. Known genealogy is important when using STR markers.

As a bonus, if the men have also taken the Family Finder test, some men may match each other autosomally as well as Y DNA, if the connection is close enough in time. Of course, Y DNA matches reach much further back in time than autosomal matching because Y DNA is never divided or combined with any DNA from the other parent.

Confirm or Refute

Genealogy can be either confirmed or refuted by either STR or SNP tests, independently or together.

Looking again at the public Estes DNA project, you can see that the first person in that group provided his genealogy as descending from the same Moses Estes line as the other men. However, the STR mutations clearly show that indeed, his genealogy is incorrect for some reason. He does not match any of the other men descended from Moses’s grandson or the rest of the Estes lineage.

This man’s haplogroup is estimated as R-M269, but were he to take the Big Y test, he would assuredly not be R-ZS3700. In fact, his STR markers match two men who have taken the Big Y-700 test and those two men share an entirely different haplogroup, not in the Estes or related branches at all. If this man were to take the Big Y-700 test, he would likely match that haplogroup.

Both STRs and SNPs can disprove a lineage relationship. As I mentioned earlier, of the two, SNPs are more reliable. Often SNPs are required to conclusively divide a group of men descended from a common ancestor.

STRs may or may not be useful, or correct, either without SNP-defined haplogroups, or within those haplogroups.

However, STRs, even alone, are a tool that should not be ignored, especially when we don’t have SNP data or it’s not conclusive.p

A Different View

To literally look at this a different way, I prepared a pedigree type Y DNA haplogroup spreadsheet for the Estes Project at WikiTree. I’ve divided the information by ancestor and included haplogroups. You can view that spreadsheet, here, and you can then compare the colored groups with the Estes DNA Project at FamilyTreeDNA which are grouped by ancestral line.

This is only a small portion of that pedigree showing the Moses lineage. The image is large, but you can see the entire spreadsheet (as of August 2020) here.

Of note, R-BY490 defines the entire Abraham Estes line (green above). Within that line, other SNP lineages have been defined, including R-ZS3700 and R-BY154784.

However, many lines have additional STR motifs that define or suggest associations with specific genealogical ancestral lines, as you can see in the Estes FamilyTreeDNA project, here. I’ve included only a snippet above.

Bottom Line

To answer the original question – yes you can and should use STR and SNP markers both separately and together. If you don’t have enough SNP data, use STR matches along with genealogy information and Family Finder results to augment what you do have.

The more Y DNA information you have in hand, the better prepared you are to analyze and utilize that information for genealogical purposes.

Do you have genealogical questions that Y DNA could potentially solve? What are they and can you find someone to test?

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Haplogroup Matching: What It Does (and Doesn’t) Mean

“Our haplogroups (sort of) match, so that means we’re related, right?”

Well, maybe.

It depends.

Great Question

This is an oft-asked great question. Of course, the answer varies depending on the context of the question and what is meant by “related.” A haplogroup match may or may not be a valid match for genealogy. A “match” or a “not match” can mean different things.

The questions people often ask include:

  • Does a haplogroup have to match exactly in order for another person to either be considered a match to you?
  • If they don’t match exactly, can they still be considered as a possible match?
  • Conversely, can we rule someone out as a match on a specific genealogical line based on haplogroup alone?

These questions often arise in relation to DNA testing at Family Tree DNA, sometimes when people are trying to compare results to people who have haplogroup estimates, either at FamilyTreeDNA or from testing elsewhere.

In other words, if one person is haplogroup J and someone else is J1, either at the same vendor or at another, what does that tell us? This question pertains to both Y DNA and mitochondrial DNA tests no matter where you’ve tested.

Family Tree DNA offers different levels of Y DNA testing. Interpreting those match results can sometimes be confusing. The same is true for mitochondrial DNA, especially if your matches have not taken the full mitochondrial sequence (mtFull) test.

You might be comparing apples and oranges, or you might be comparing a whole orange (detailed test) with a few slices (haplogroup estimate.) How can you know, and how can you make sense of the results?

If you’re comparing a haplogroup between sources, such as a partial haplogroup determined by testing through a company like 23andMe or LivingDNA to complete tests taken at FamilyTreeDNA, the answer can be less than straightforward.

I discussed the difference between autosomal-based haplogroup assignments and actual testing of both Y DNA and mitochondrial DNA which result in haplogroup assignments, here. In a nutshell, both LivingDNA and 23andMe provide a high-level (base) haplogroup estimates based on a few specific probes when you purchase an autosomal test, but that’s not the same as deeper testing of the Y chromosome or mitochondrial DNA.

The answer to whether your haplogroup has to match is both “yes”, and “no.” Don’t you hate it when this happens?

Let’s look at different situations. But to begin with, there is at least one common answer.

Yes, Your Base Haplogroup Must Match

To even begin to look further for a common ancestor on either your Y DNA line (direct patrilineal) or direct mitochondrial matrilineal line (your mother’s mother’s mother’s line on up the tree), your base haplogroup much match.

In other words, you and your matches must all be in the same base haplogroup. Haplogroups are defined by the presence of specific combinations of mutations which are called SNPs (single nucleotide polymorphisms) in the Y DNA.

Click to enlarge images

All of these men on the Y DNA matches page are a branch of haplogroup R as shown under the Y-DNA Haplogroup column. There are more matches on down the page (not shown here) with more and different haplogroups. However, you’ll notice that all matches are a subset of haplogroup R, the base haplogroup.

The same is true for mitochondrial DNA haplogroups. You can see in this example that people who have not tested at the FMS (full mitochondrial sequence) level have a less specific haplogroup. The entire mitochondria must be tested in order to obtain a full haplogroup, such as J1c2f, as opposed to haplogroup J.

The Y DNA Terminal SNP Might Not Match

For Y DNA testers, when looking at your matches, even to close relatives, you may not have the same exact haplogroup because:

  • Some people may have tested at different levels
  • Some people in recent generations may have developed a SNP specific to their line.

In other words, haplogroups, testing level, and known genealogy all need to be considered, especially when the haplogroups are “close to each other” on the tree.

For Y DNA, FamilyTreeDNA:

  • Provides all testers with base haplogroup estimates based on STR tests, meaning 12-111 marker panels. These are very accurate estimates, but are also very high level.
  • Offers or has offered in the past both individual SNP tests and SNP packs or bundles that test individual SNPs indicating their presence or absence. This confirms a SNP or haplogroup, but only to that particular level.
  • Offers the Big Y-700 test, along with upgrades to previous Big Y test levels. There have been 3 versions of the Big Y test over time. The Big Y reads the entire gold standard region of the Y chromosome, reporting the known (named) SNP mutations customers do and don’t have. Additionally, the test reports any unnamed SNPs which are considered private variants until multiple men on the same branch of the Y DNA tree test with the same mutation. At that point, the mutation is named and becomes a haplogroup.

That’s why the answer is “no,” your haplogroup does not have to match exactly for you to actually be a match to each other.

A father and son could test, with one having an estimated haplogroup of R-M269 and the other taking the Big Y-700 resulting in a very different Terminal SNP, quite distant on the tree. Conversely, both men could take the Big Y and the son could have a different terminal SNP than the father because a mutation occurred between them. An autosomal DNA test would confirm that they are in fact, father and son.

However, a father and son who test and are placed in different base haplogroups – one in haplogroup I, and the other in haplogroup R, for example, has a very different situation. Their autosomal test would likely confirm that they are not father and son.

Having said this about paternity, especially if haplogroups are estimated and specific Y DNA SNP testing has not been done, don’t have a premature freak-out moment. Look at autosomal DNA, assuming you DO want to know. Y DNA alone should never be used to infer paternity without autosomal testing.

Let’s look at some examples.

Matches and Haplogroups

In the example shown above, you can see that several people have taken the Big Y test, so their SNP will be shown on further down the haplotree than those testers who have not. These are a leaf, not a branch.

You can see by looking at the Terminal SNP column, at far right, that people who have either taken the Big Y, or had any positive SNP test will have a value in the Terminal SNP column.

Anyone who has NOT taken the Big Y or taken a SNP test will have their base haplogroup estimated based on their STR tests. In this case, that estimate is R-M269. People with estimated haplogroups will not show anything in the Terminal SNP column.

It’s possible that if all of these men took the Big Y test that at least some would share the same Terminal SNP, and others might be closely related, only a branch or so different on the tree.

These men in this example are all descendants of Robert Estes born in England in 1555. All have Estes surnames, except for one man who is seeking the identity of his paternal line.

Let’s Look at the Tree

Our tester in the screenshot is haplogroup R-ZS3700 and matches men in the following haplogroups:

  • R-M269
  • R-L21
  • R-BY490
  • R-BY154784

There are a few additional haplogroups not shown because they are further down on his match list, so let’s just work with these for now.

After determining that these men are on the same branch of the Y tree, haplogroup R, the real question is how closely they are related and how close or far distant their terminal SNPs are located. More distance means the common ancestor is further back in time.

However, looks can be deceiving, especially if not everyone has tested to the same level.

The haplogroup furthest up in the tree, meaning the oldest, is R-M269, followed by the man who took the single SNP test for R-L21. Notice that R-M269 has more than 15,000 branches, so while this haplogroup could be used to rule out a match, R-M269 alone isn’t useful to determine genealogical matching.

There are a lot of branches between R-L21 and the next haplogroup on the tree.

Finally, here we go. Our tester is haplogroup R-ZS3700 that has one descendant branch. R-ZS3700 is a branch of R-BY490 that has 2 branches.

R-BY154784 is the last SNP on this branch of the tree. Our tester matches this man too.

Another way of viewing these matches is on the Block Tree provided for Big Y testers.

In this view, you can see that the Estes men all match back to about 18 “SNP generations” ago according to the legend at left, but they don’t match men further back in time who have taken the Big Y test.

Notice the up-arrow where haplogroups R-L21 and R-M269 are shown across the top of the display.

If you click on R-L21, you’ll see that that it appears about 61 SNP generations back in time.

Haplogroup R-M269 appears even further back in time, about 174 SNP generations.

The only reason you will match someone at either the R-L21 or R-M269 level is because you both descend from a common long-ago ancestral branch, hundreds to thousands of years in the past. You and they would both need to take either the Big Y-700 test for Y DNA, or the full sequence mitochondrial DNA test in order to determine your full haplogroup and see your list of matches based on those full sequences.

Public Trees

You can view FamilyTreeDNA‘s extensive public Y DNA tree by haplogroup, here.

You can view their public mitochondrial DNA tree by haplogroup, here.

And the Answer Is…

As you can see, there is no single answer to the question of haplogroup relationships. The answer is also partly defined by the context in which the question is asked.

  1. For two men to be “related” on the Y DNA patrilineal line, yes, minimally, the base haplogroup does have to match. Base haplogroups are defined by the leading letter, like “R” in the examples above.
  2. “Related” based on base haplogroup only can be hundreds or thousands of years back in time, but additional testing can resolve that question.
  3. “Related” can mean before the advent of surnames. However, a match to a man with the same surname suggests a common ancestor with that surname in the past several hundred years. That match could, however, be much closer in time.
  4. For two men to be closely related, assuming they have taken the same version of Big Y test, their haplogroup branches need to be fairly closely adjacent on the haplotree. FamilyTreeDNA will be introducing haplogroup aging soon, meaning SNP/haplogroup branch dates on their haplotree. At that time, the “distance” between men will be easier to understand.
  5. You can exclude a genealogical relationship on the direct paternal line if the two men involved have a different base haplogroup. This question often occurs when people are trying to understand if they “might match” with someone whose haplogroup has been estimated.
  6. This holds true as well for mitochondrial DNA haplogroups and matching.

And there you have it, six answers about what haplogroup matching does and does not mean.

The bottom line is that haplogroups can be a great starting point and you can sometimes eliminate people as potential matches.

However, to confirm genealogical matches, you’ll always need more granular testing that includes actual Y DNA or mitochondrial DNA matching based on marker mutation results, not just haplogroups.

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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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Genetic Genealogy at 20 Years: Where Have We Been, Where Are We Going and What’s Important?

Not only have we put 2020 in the rear-view mirror, thankfully, we’re at the 20-year, two-decade milestone. The point at which genetics was first added to the toolbox of genealogists.

It seems both like yesterday and forever ago. And yes, I’ve been here the whole time,  as a spectator, researcher, and active participant.

Let’s put this in perspective. On New Year’s Eve, right at midnight, in 2005, I was able to score kit number 50,000 at Family Tree DNA. I remember this because it seemed like such a bizarre thing to be doing at midnight on New Year’s Eve. But hey, we genealogists are what we are.

I knew that momentous kit number which seemed just HUGE at the time was on the threshold of being sold, because I had inadvertently purchased kit 49,997 a few minutes earlier.

Somehow kit 50,000 seemed like such a huge milestone, a landmark – so I quickly bought kits, 49,998, 49,999, and then…would I get it…YES…kit 50,000. Score!

That meant that in the 5 years FamilyTreeDNA had been in business, they had sold on an average of 10,000 kits per year, or 27 kits a day. Today, that’s a rounding error. Then it was momentous!

In reality, the sales were ramping up quickly, because very few kits were sold in 2000, and roughly 20,000 kits had been sold in 2005 alone. I know this because I purchased kit 28,429 during the holiday sale a year earlier.

Of course, I had no idea who I’d test with that momentous New Year’s Eve Y DNA kit, but I assuredly would find someone. A few months later, I embarked on a road trip to visit an elderly family member with that kit in tow. Thank goodness I did, and they agreed and swabbed on the spot, because they are gone today and with them, the story of the Y line and autosomal DNA of their branch.

In the past two decades, almost an entire generation has slipped away, and with them, an entire genealogical library held in their DNA.

Today, more than 40 million people have tested with the four major DNA testing companies, although we don’t know exactly how many.

Lots of people have had more time to focus on genealogy in 2020, so let’s take a look at what’s important? What’s going on and what matters beyond this month or year?

How has this industry changed in the last two decades, and where it is going?

Reflection

This seems like a good point to reflect a bit.

Professor Dan Bradley reflecting on early genetic research techniques in his lab at the Smurfit Institute of Genetics at Trinity College in Dublin. Photo by Roberta Estes

In the beginning – twenty years ago, there were two companies who stuck their toes in the consumer DNA testing water – Oxford Ancestors and Family Tree DNA. About the same time, Sorenson Genomics and GeneTree were also entering that space, although Sorenson was a nonprofit. Today, of those, only FamilyTreeDNA remains, having adapted with the changing times – adding more products, testing, and sophistication.

Bryan Sykes who founded Oxford Ancestors announced in 2018 that he was retiring to live abroad and subsequently passed away in 2020. The website still exists, but the company has announced that they have ceased sales and the database will remain open until Sept 30, 2021.

James Sorenson died in 2008 and the assets of Sorenson Molecular Genealogy Foundation, including the Sorenson database, were sold to Ancestry in 2012. Eventually, Ancestry removed the public database in 2015.

Ancestry dabbled in Y and mtDNA for a while, too, destroying that database in 2014.

Other companies, too many to remember or mention, have come and gone as well. Some of the various company names have been recycled or purchased, but aren’t the same companies today.

In the DNA space, it was keep up, change, die or be sold. Of course, there was the small matter of being able to sell enough DNA kits to make enough money to stay in business at all. DNA processing equipment and a lab are expensive. Not just the equipment, but also the expertise.

The Next Wave

As time moved forward, new players entered the landscape, comprising the “Big 4” testing companies that constitute the ponds where genealogists fish today.

23andMe was the first to introduce autosomal DNA testing and matching. Their goal and focus was always medical genetics, but they recognized the potential in genealogists before anyone else, and we flocked to purchase tests.

Ancestry settled on autosomal only and relies on the size of their database, a large body of genealogy subscribers, and a widespread “feel-good” marketing campaign to sell DNA kits as the gateway to “discover who you are.”

FamilyTreeDNA did and still does offer all 3 kinds of tests. Over the years, they have enhanced both the Y DNA and mitochondrial product offerings significantly and are still known as “the science company.” They are the only company to offer the full range of Y DNA tests, including their flagship Big Y-700, full sequence mitochondrial testing along with matching for both products. Their autosomal product is called Family Finder.

MyHeritage entered the DNA testing space a few years after the others as the dark horse that few expected to be successful – but they fooled everyone. They have acquired companies and partnered along the way which allowed them to add customers (Promethease) and tools (such as AutoCluster by Genetic Affairs), boosting their number of users. Of course, MyHeritage also offers users a records research subscription service that you can try for free.

In summary:

One of the wonderful things that happened was that some vendors began to accept compatible raw DNA autosomal data transfer files from other vendors. Today, FamilyTreeDNA, MyHeritage, and GEDmatch DO accept transfer files, while Ancestry and 23andMe do not.

The transfers and matching are free, but there are either minimal unlock or subscription plans for advanced features.

There are other testing companies, some with niche markets and others not so reputable. For this article, I’m focusing on the primary DNA testing companies that are useful for genealogy and mainstream companion third-party tools that complement and enhance those services.

The Single Biggest Change

As I look back, the single biggest change is that genetic genealogy evolved from the pariah of genealogy where DNA discussion was banned from the (now defunct) Rootsweb lists and summarily deleted for the first few years after introduction. I know, that’s hard to believe today.

Why, you ask?

Reasons varied from “just because” to “DNA is cheating” and then morphed into “because DNA might do terrible things like, maybe, suggest that a person really wasn’t related to an ancestor in a lineage society.”

Bottom line – fear and misunderstanding. Change is exceedingly difficult for humans, and DNA definitely moved the genealogy cheese.

From that awkward beginning, genetic genealogy organically became a “thing,” a specific application of genealogy. There was paper-trail traditional genealogy and then the genetic aspect. Today, for almost everyone, genealogy is “just another tool” in the genealogist’s toolbox, although it does require focused learning, just like any other tool.

DNA isn’t separate anymore, but is now an integral part of the genealogical whole. Having said that, DNA can’t solve all problems or answer all questions, but neither can traditional paper-trail genealogy. Together, each makes the other stronger and solves mysteries that neither can resolve alone.

Synergy.

I fully believe that we have still only scratched the surface of what’s possible.

Inheritance

As we talk about the various types of DNA testing and tools, here’s a quick graphic to remind you of how the different types of DNA are inherited.

  • Y DNA is inherited paternally for males only and informs us of the direct patrilineal (surname) line.
  • Mitochondrial DNA is inherited by everyone from their mothers and informs us of the mother’s matrilineal (mother’s mother’s mother’s) line.
  • Autosomal DNA can be inherited from potentially any ancestor in random but somewhat predictable amounts through both parents. The further back in time, the less identifiable DNA you’ll inherit from any specific ancestor. I wrote about that, here.

What’s Hot and What’s Not

Where should we be focused today and where is this industry going? What tools and articles popped up in 2020 to help further our genealogy addiction? I already published the most popular articles of 2020, here.

This industry started two decades ago with testing a few Y DNA and mitochondrial DNA markers, and we were utterly thrilled at the time. Both tests have advanced significantly and the prices have dropped like a stone. My first mitochondrial DNA test that tested only 400 locations cost more than $800 – back then.

Y DNA and mitochondrial DNA are still critically important to genetic genealogy. Both play unique roles and provide information that cannot be obtained through autosomal DNA testing. Today, relative to Y DNA and mitochondrial DNA, the biggest challenge, ironically, is educating newer genealogists about their potential who have never heard about anything other than autosomal, often ethnicity, testing.

We have to educate in order to overcome the cacophony of “don’t bother because you don’t get as many matches.”

That’s like saying “don’t use the right size wrench because the last one didn’t fit and it’s a bother to reach into the toolbox.” Not to mention that if everyone tested, there would be a lot more matches, but I digress.

If you don’t use the right tool, and all of the tools at your disposal, you’re not going to get the best result possible.

The genealogical proof standard, the gold standard for genealogy research, calls for “a reasonably exhaustive search,” and if you haven’t at least considered if or how Y
DNA
and mitochondrial DNA along with autosomal testing can or might help, then your search is not yet exhaustive.

I attempt to obtain the Y and mitochondrial DNA of every ancestral line. In the article, Search Techniques for Y and Mitochondrial DNA Test Candidates, I described several methodologies to find appropriate testing candidates.

Y DNA – 20 Years and Still Critically Important

Y DNA tracks the Y chromosome for males via the patrilineal (surname) line, providing matching and historical migration information.

We started 20 years ago testing 10 STR markers. Today, we begin at 37 markers, can upgrade to 67 or 111, but the preferred test is the Big Y which provides results for 700+ STR markers plus results from the entire gold standard region of the Y chromosome in order to provide the most refined results. This allows genealogists to use STR markers and SNP results together for various aspects of genealogy.

I created a Y DNA resource page, here, in order to provide a repository for Y DNA information and updates in one place. I would encourage anyone who can to order or upgrade to the Big Y-700 test which provides critical lineage information in addition to and beyond traditional STR testing. Additionally, the Big Y-700 test helps build the Y DNA haplotree which is growing by leaps and bounds.

More new SNPs are found and named EVERY SINGLE DAY today at FamilyTreeDNA than were named in the first several years combined. The 2006 SNP tree listed a grand total of 459 SNPs that defined the Y DNA tree at that time, according to the ISOGG Y DNA SNP tree. Goran Rundfeldt, head of R&D at FamilyTreeDNA posted this today:

2020 was an awful year in so many ways, but it was an unprecedented year for human paternal phylogenetic tree reconstruction. The FTDNA Haplotree or Great Tree of Mankind now includes:

37,534 branches with 12,696 added since 2019 – 51% growth!
defined by
349,097 SNPs with 131,820 added since 2019 – 61% growth!

In just one year, 207,536 SNPs were discovered and assigned FT SNP names. These SNPs will help define new branches and refine existing ones in the future.

The tree is constructed based on high coverage chromosome Y sequences from:
– More than 52,500 Big Y results
– Almost 4,000 NGS results from present-day anonymous men that participated in academic studies

Plus an additional 3,000 ancient DNA results from archaeological remains, of mixed quality and Y chromosome coverage at FamilyTreeDNA.

Wow, just wow.

These three new articles in 2020 will get you started on your Y DNA journey!

Mitochondrial DNA – Matrilineal Line of Humankind is Being Rewritten

The original Oxford Ancestor’s mitochondrial DNA test tested 400 locations. The original Family Tree DNA test tested around 1000 locations. Today, the full sequence mitochondrial DNA test is standard, testing the entire 16,569 locations of the mitochondria.

Mitochondrial DNA tracks your mother’s direct maternal, or matrilineal line. I’ve created a mitochondrial DNA resource page, here that includes easy step-by-step instructions for after you receive your results.

New articles in 2020 included the introduction of The Million Mito Project. 2021 should see the first results – including a paper currently in the works.

The Million Mito Project is rewriting the haplotree of womankind. The current haplotree has expanded substantially since the first handful of haplogroups thanks to thousands upon thousands of testers, but there is so much more information that can be extracted today.

Y and Mitochondrial Resources

If you don’t know of someone in your family to test for Y DNA or mitochondrial DNA for a specific ancestral line, you can always turn to the Y DNA projects at Family Tree DNA by searching here.

The search provides you with a list of projects available for a specific surname along with how many customers with that surname have tested. Looking at the individual Y DNA projects will show the earliest known ancestor of the surname line.

Another resource, WikiTree lists people who have tested for the Y DNA, mitochondrial DNA and autosomal DNA lines of specific ancestors.

Click on images to enlarge

On the left side, my maternal great-grandmother’s profile card, and on the right, my paternal great-great-grandfather. You can see that someone has tested for the mitochondrial DNA of Nora (OK, so it’s me) and the Y DNA of John Estes (definitely not me.)

MitoYDNA, a nonprofit volunteer organization created a comparison tool to replace Ysearch and Mitosearch when they bit the dust thanks to GDPR.

MitoYDNA accepts uploads from different sources and allows uploaders to not only match to each other, but to view the STR values for Y DNA and the mutation locations for the HVR1 and HVR2 regions of mitochondrial DNA. Mags Gaulden, one of the founders, explains in her article, What sets mitoYDNA apart from other DNA Databases?.

If you’ve tested at nonstandard companies, not realizing that they didn’t provide matching, or if you’ve tested at a company like Sorenson, Ancestry, and now Oxford Ancestors that is going out of business, uploading your results to mitoYDNA is a way to preserve your investment. PS – I still recommend testing at FamilyTreeDNA in order to receive detailed results and compare in their large database.

CentiMorgans – The Word of Two Decades

The world of autosomal DNA turns on the centimorgan (cM) measure. What is a centimorgan, exactly? I wrote about that unit of measure in the article Concepts – CentiMorgans, SNPs and Pickin’ Crab.

Fortunately, new tools and techniques make using cMs much easier. The Shared cM Project was updated this year, and the results incorporated into a wonderfully easy tool used to determine potential relationships at DNAPainter based on the number of shared centiMorgans.

Match quality and potential relationships are determined by the number of shared cMs, and the chromosome browser is the best tool to use for those comparisons.

Chromosome Browser – Genetics Tool to View Chromosome Matches

Chromosome browsers allow testers to view their matching cMs of DNA with other testers positioned on their own chromosomes.

My two cousins’ DNA where they match me on chromosomes 1-4, is shown above in blue and red at Family Tree DNA. It’s important to know where you match cousins, because if you match multiple cousins on the same segment, from the same side of your family (maternal or paternal), that’s suggestive of a common ancestor, with a few caveats.

Some people feel that a chromosome browser is an advanced tool, but I think it’s simply standard fare – kind of like driving a car. You need to learn how to drive initially, but after that, you don’t even think about it – you just get in and go. Here’s help learning how to drive that chromosome browser.

Triangulation – Science Plus Group DNA Matching Confirms Genealogy

The next logical step after learning to use a chromosome browser is triangulation. If fact, you’re seeing triangulation above, but don’t even realize it.

The purpose of genetic genealogy is to gather evidence to “prove” ancestral connections to either people or specific ancestors. In autosomal DNA, triangulation occurs when:

  • You match at least two other people (not close relatives)
  • On the same reasonably sized segment of DNA (generally 7 cM or greater)
  • And you can assign that segment to a common ancestor

The same two cousins are shown above, with triangulated segments bracketed at MyHeritage. I’ve identified the common ancestor with those cousins that those matching DNA segments descend from.

MyHeritage’s triangulation tool confirms by bracketing that these cousins also match each other on the same segment, which is the definition of triangulation.

I’ve written a lot about triangulation recently.

If you’d prefer a video, I recorded a “Top Tips” Facebook LIVE with MyHeritage.

Why is Ancestry missing from this list of triangulation articles? Ancestry does not offer a chromosome browser or segment information. Therefore, you can’t triangulate at Ancestry. You can, however, transfer your Ancestry DNA raw data file to either FamilyTreeDNA, MyHeritage, or GEDmatch, all three of which offer triangulation.

Step by step download/upload transfer instructions are found in this article:

Clustering Matches and Correlating Trees

Based on what we’ve seen over the past few years, we can no longer depend on the major vendors to provide all of the tools that genealogists want and need.

Of course, I would encourage you to stay with mainstream products being used by a significant number of community power users. As with anything, there is always someone out there that’s less than honorable.

2020 saw a lot of innovation and new tools introduced. Maybe that’s one good thing resulting from people being cooped up at home.

Third-party tools are making a huge difference in the world of genetic genealogy. My favorites are Genetic Affairs, their AutoCluster tool shown above, DNAPainter and DNAGedcom.

These articles should get you started with clustering.

If you like video resources, here’s a MyHeritage Facebook LIVE that I recorded about how to use AutoClusters:

I created a compiled resource article for your convenience, here:

I have not tried a newer tool, YourDNAFamily, that focuses only on 23andMe results although the creator has been a member of the genetic genealogy community for a long time.

Painting DNA Makes Chromosome Browsers and Triangulation Easy

DNAPainter takes the next step, providing a repository for all of your painted segments. In other words, DNAPainter is both a solution and a methodology for mass triangulation across all of your chromosomes.

Here’s a small group of people who match me on the same maternal segment of chromosome 1, including those two cousins in the chromosome browser and triangulation sections, above. We know that this segment descends from Philip Jacob Miller and his wife because we’ve been able to identify that couple as the most distant ancestor intersection in all of our trees.

It’s very helpful that DNAPainter has added the functionality of painting all of the maternal and paternal bucketed matches from Family Tree DNA.

All you need to do is to link your known matches to your tree in the proper place at FamilyTreeDNA, then they do the rest by using those DNA matches to indicate which of the rest of your matches are maternal and paternal. Instructions, here. You can then export the file and use it at DNAPainter to paint all of those matches on the correct maternal or paternal chromosomes.

Here’s an article providing all of the DNAPainter Instructions and Resources.

DNA Matches Plus Trees Enhance Genealogy

Of course, utilizing DNA matching plus finding common ancestors in trees is one of the primary purposes of genetic genealogy – right?

Vendors have linked the steps of matching DNA with matching ancestors in trees.

Genetic Affairs take this a step further. If you don’t have an ancestor in your tree, but your matches have common ancestors with each other, Genetic Affairs assembles those trees to provide you with those hints. Of course, that common ancestor might not be relevant to your genealogy, but it just might be too!

click to enlarge

This tree does not include me, but two of my matches descend from a common ancestor and that common ancestor between them might be a clue as to why I match both of them.

Ethnicity Continues to be Popular – But Is No Shortcut to Genealogy

Ethnicity is always popular. People want to “do their DNA” and find out where they come from. I understand. I really do. Who doesn’t just want an answer?

Of course, it’s not that simple, but that doesn’t mean it’s not disappointing to people who test for that purpose with high expectations. Hopefully, ethnicity will pique their curiosity and encourage engagement.

All four major vendors rolled out updated ethnicity results or related tools in 2020.

The future for ethnicity, I believe, will be held in integrated tools that allow us to use ethnicity results for genealogy, including being able to paint our ethnicity on our chromosomes as well as perform segment matching by ethnicity.

For example, if I carry an African segment on chromosome 1 from my father, and I match one person from my mother’s side and one from my father’s side on that same segment – one or the other of those people should also have that segment identified as African. That information would inform me as to which match is paternal and which is maternal

Not only that, this feature would help immensely tracking ancestors back in time and identifying their origins.

Will we ever get there? I don’t know. I’m not sure ethnicity is or can be accurate enough. We’ll see.

Transition to Digital and Online

Sometimes the future drags us kicking and screaming from the present.

With the imposed isolation of 2020, conferences quickly moved to an online presence. The genealogy community has all pulled together to make this work. The joke is that 2020’s most used phrase is “can you hear me?” I can vouch for that.

Of course while the year 2020 is over, the problem isn’t and is extending at least through the first half of 2021 and possibly longer. Conferences are planned months, up to a year, in advance and they can’t turn on a dime, so don’t even begin to expect in-person conferences until either late in 2021 or more likely, 2022 if all goes well this year.

I expect the future will eventually return to in-person conferences, but not entirely.

Finding ways to be more inclusive allows people who don’t want to or can’t travel or join in-person to participate.

I’ve recorded several sessions this year, mostly for 2021. Trust me, these could be a comedy, mostly of errors😊

I participated in four MyHeritage Facebook LIVE sessions in 2020 along with some other amazing speakers. This is what “live” events look like today!

Screenshot courtesy MyHeritage

A few days ago, I asked MyHeritage for a list of their LIVE sessions in 2020 and was shocked to learn that there were more than 90 in English, all free, and you can watch them anytime. Here’s the MyHeritage list.

By the way, every single one of the speakers is a volunteer, so say a big thank you to the speakers who make this possible, and to MyHeritage for the resources to make this free for everyone. If you’ve ever tried to coordinate anything like this, it’s anything but easy.

Additonally, I’ve created two Webinars this year for Legacy Family Tree Webinars.

Geoff Rasmussen put together the list of their top webinars for 2020, and I was pleased to see that I made the top 10! I’m sure there are MANY MORE you’d be interested in watching. Personally, I’m going to watch #6 yet today! Also, #9 and #22. You can always watch new webinars for free for a few days, and you can subscribe to watch all webinars, here.

The 2021 list of webinar speakers has been announced here, and while I’m not allowed to talk about something really fun that’s upcoming, let’s just say you definitely have something to look forward to in the springtime!

Also, don’t forget to register for RootsTech Connect which is entirely online and completely free, February 25-27, here.

Thank you to Penny Walters for creating this lovely graphic.

There are literally hundreds of speakers providing sessions in many languages for viewers around the world. I’ve heard the stats, but we can’t share them yet. Let me just say that you will be SHOCKED at the magnitude and reach of this conference. I’m talking dumbstruck!

During one of our zoom calls, one of the organizers says it feels like we’re constructing the plane as we’re flying, and I can confirm his observation – but we are getting it done – together! All hands on deck.

I’ll be presenting an advanced session about triangulation as well as a mini-session in the FamilySearch DNA Resource Center about finding your mother’s ancestors. I’ll share more information as it’s released and I can.

Companies and Owners Come & Go

You probably didn’t even notice some of these 2020 changes. Aside from the death of Bryan Sykes (RIP Bryan,) the big news and the even bigger unknown is the acquisition of Ancestry by Blackstone. Recently the CEO, Margo Georgiadis announced that she was stepping down. The Ancestry Board of Directors has announced an external search for a new CEO. All I can say is that very high on the priority list should be someone who IS a genealogist and who understands how DNA applies to genealogy.

Other changes included:

In the future, as genealogy and DNA testing becomes ever more popular and even more of a commodity, company sales and acquisitions will become more commonplace.

Some Companies Reduced Services and Cut Staff

I understand this too, but it’s painful. The layoffs occurred before Covid, so they didn’t result from Covid-related sales reductions. Let’s hope we see renewed investment after the Covid mess is over.

In a move that may or may not be related to an attempt to cut costs, Ancestry removed 6 and 7 cM matches from their users, freeing up processing resources, hardware, and storage requirements and thereby reducing costs.

I’m not going to beat this dead horse, because Ancestry is clearly not going to move on this issue, nor on that of the much-requested chromosome browser.

Later in the year, 23andMe also removed matches and other features, although, to their credit, they have restored at least part of this functionality and have provided ethnicity updates to V3 and V4 kits which wasn’t initially planned.

It’s also worth noting that early in 2020, 23andMe laid off 100 people as sales declined. Since that time, 23andMe has increasingly pushed consumers to pay to retest on their V5 chip.

About the same time, Ancestry also cut their workforce by about 6%, or about 100 people, also citing a slowdown in the consumer testing market. Ancestry also added a health product.

I’m not sure if we’ve reached market saturation or are simply seeing a leveling off. I wrote about that in DNA Testing Sales Decline: Reason and Reasons.

Of course, the pandemic economy where many people are either unemployed or insecure about their future isn’t helping.

The various companies need some product diversity to survive downturns. 23andMe is focused on medical research with partners who pay 23andMe for the DNA data of customers who opt-in, as does Ancestry.

Both Ancestry and MyHeritage provide subscription services for genealogy records.

FamilyTreeDNA is part of a larger company, GenebyGene whose genetics labs do processing for other companies and medical facilities.

A huge thank you to both MyHeritage and FamilyTreeDNA for NOT reducing services to customers in 2020.

Scientific Research Still Critical & Pushes Frontiers

Now that DNA testing has become a commodity, it’s easy to lose track of the fact that DNA testing is still a scientific endeavor that requires research to continue to move forward.

I’m still passionate about research after 20 years – maybe even more so now because there’s so much promise.

Research bleeds over into the consumer marketplace where products are improved and new features created allowing us to better track and understand our ancestors through their DNA that we and our family members inherit.

Here are a few of the research articles I published in 2020. You might notice a theme here – ancient DNA. What we can learn now due to new processing techniques is absolutely amazing. Labs can share files and information, providing the ability to “reprocess” the data, not the DNA itself, as more information and expertise becomes available.

Of course, in addition to this research, the Million Mito Project team is hard at work rewriting the tree of womankind.

If you’d like to participate, all you need to do is to either purchase a full sequence mitochondrial DNA kit at FamilyTreeDNA, or upgrade to the full sequence if you tested at a lower level previously.

Predictions

Predictions are risky business, but let me give it a shot.

Looking back a year, Covid wasn’t on the radar.

Looking back 5 years, neither Genetic Affairs nor DNAPainter were yet on the scene. DNAAdoption had just been formed in 2014 and DNAGedcom which was born out of DNAAdoption didn’t yet exist.

In other words, the most popular tools today didn’t exist yet.

GEDmatch, founded in 2010 by genealogists for genealogists was 5 years old, but was sold in December 2019 to Verogen.

We were begging Ancestry for a chromosome browser, and while we’ve pretty much given up beating them, because the horse is dead and they can sell DNA kits through ads focused elsewhere, that doesn’t mean genealogists still don’t need/want chromosome and segment based tools. Why, you’d think that Ancestry really doesn’t want us to break through those brick walls. That would be very bizarre, because every brick wall that falls reveals two more ancestors that need to be researched and spurs a frantic flurry of midnight searching. If you’re laughing right now, you know exactly what I mean!

Of course, if Ancestry provided a chromosome browser, it would cost development money for no additional revenue and their customer service reps would have to be able to support it. So from Ancestry’s perspective, there’s no good reason to provide us with that tool when they can sell kits without it. (Sigh.)

I’m not surprised by the management shift at Ancestry, and I wouldn’t be surprised to see several big players go public in the next decade, if not the next five years.

As companies increase in value, the number of private individuals who could afford to purchase the company decreases quickly, leaving private corporations as the only potential buyers, or becoming publicly held. Sometimes, that’s a good thing because investment dollars are infused into new product development.

What we desperately need, and I predict will happen one way or another is a marriage of individual tools and functions that exist separately today, with a dash of innovation. We need tools that will move beyond confirming existing ancestors – and will be able to identify ancestors through our DNA – out beyond each and every brick wall.

If a tester’s DNA matches to multiple people in a group descended from a particular previously unknown couple, and the timing and geography fits as well, that provides genealogical researchers with the hint they need to begin excavating the traditional records, looking for a connection.

In fact, this is exactly what happened with mitochondrial DNA – twice now. A match and a great deal of digging by one extremely persistent cousin resulting in identifying potential parents for a brick-wall ancestor. Autosomal DNA then confirmed that my DNA matched with 59 other individuals who descend from that couple through multiple children.

BUT, we couldn’t confirm those ancestors using autosomal DNA UNTIL WE HAD THE NAMES of the couple. DNA has the potential to reveal those names!

I wrote about that in Mitochondrial DNA Bulldozes Brick Wall and will be discussing it further in my RootsTech presentation.

The Challenge

We have most of the individual technology pieces today to get this done. Of course, the combined technological solution would require significant computing resources and processing power – just at the same time that vendors are desperately trying to pare costs to a minimum.

Some vendors simply aren’t interested, as I’ve already noted.

However, the winner, other than us genealogists, of course, will be the vendor who can either devise solutions or partner with others to create the right mix of tools that will combine matching, triangulation, and trees of your matches to each other, even if you don’t’ share a common ancestor.

We need to follow the DNA past the current end of the branch of our tree.

Each triangulated segment has an individual history that will lead not just to known ancestors, but to their unknown ancestors as well. We have reached critical mass in terms of how many people have tested – and more success would encourage more and more people to test.

There is a genetic path over every single brick wall in our genealogy.

Yes, I know that’s a bold statement. It’s not future Jetson’s flying-cars stuff. It’s doable – but it’s a matter of commitment, investment money, and finding a way to recoup that investment.

I don’t think it’s possible for the one-time purchase of a $39-$99 DNA test, especially when it’s not a loss-leader for something else like a records or data subscription (MyHeritage and Ancestry) or a medical research partnership (Ancestry and 23andMe.)

We’re performing these analysis processes manually and piecemeal today. It’s extremely inefficient and labor-intensive – which is why it often fails. People give up. And the process is painful, even when it does succeed.

This process has also been made increasingly difficult when some vendors block tools that help genealogists by downloading match and ancestral tree information. Before Ancestry closed access, I was creating theories based on common ancestors in my matches trees that weren’t in mine – then testing those theories both genetically (clusters, AutoTrees and ThruLines) and also by digging into traditional records to search for the genetic connection.

For example, I’m desperate to identify the parents of my James Lee Clarkson/Claxton, so I sorted my spreadsheet by surname and began evaluating everyone who had a Clarkson/Claxton in their tree in the 1700s in Virginia or North Carolina. But I can’t do that anymore now, either with a third-party tool or directly at Ancestry. Twenty million DNA kits sold for a minimum of $79 equals more than 1.5 billion dollars. Obviously, the issue here is not a lack of funds.

Including Y and mitochondrial DNA resources in our genetic toolbox not only confirms accuracy but also provides additional hints and clues.

Sometimes we start with Y DNA or mitochondrial DNA, and wind up using autosomal and sometimes the reverse. These are not competing products. It’s not either/or – it’s *and*.

Personally, I don’t expect the vendors to provide this game-changing complex functionality for free. I would be glad to pay for a subscription for top-of-the-line innovation and tools. In what other industry do consumers expect to pay for an item once and receive constant life-long innovations and upgrades? That doesn’t happen with software, phones nor with automobiles. I want vendors to be profitable so that they can invest in new tools that leverage the power of computing for genealogists to solve currently unsolvable problems.

Every single end-of-line ancestor in your tree represents a brick wall you need to overcome.

If you compare the cost of books, library visits, courthouse trips, and other research endeavors that often produce exactly nothing, these types of genetic tools would be both a godsend and an incredible value.

That’s it.

That’s the challenge, a gauntlet of sorts.

Who’s going to pick it up?

I can’t answer that question, but I can say that 23andMe can’t do this without supporting extensive trees, and Ancestry has shown absolutely no inclination to support segment data. You can’t achieve this goal without segment information or without trees.

Among the current players, that leaves two DNA testing companies and a few top-notch third parties as candidates – although – as the past has proven, the future is uncertain, fluid, and everchanging.

It will be interesting to see what I’m writing at the end of 2025, or maybe even at the end of 2021.

Stay tuned.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Books

Y DNA Resources and Repository

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

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

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

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

What is Y DNA?

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

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

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

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

Y DNA has Unique Properties

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

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

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

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

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

click to enlarge

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

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

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

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

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

Step-by-Step – Using Your Y DNA Results

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

What do those words mean? Here you go!

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

Big Y Testing and Results

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

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

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

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

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

Educational Articles

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

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

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

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

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

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

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

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

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

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

Piecing together your ancestor’s Y DNA from descendants.

Haplogroups are something like our pedigree charts.

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

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

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

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

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

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

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

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

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

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

Tools and Techniques

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

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

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

Science Meets Genealogy – Including Ancient DNA

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

Haplogroup C is found in several North American tribes.

Haplogroup C is found as far east as Nova Scotia.

Test by test, we made progress.

New testers, new branches. The research continues.

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

The press release about the discovery of haplogroup A00.

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

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

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

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

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

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

Compare your own DNA to Vikings!

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

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

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

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

Webinars

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

Success Stories and Genealogy Discoveries

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

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

DNA testing reveals an unexpected mystery several hundred years old.

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

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

What About You?

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

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

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

Share the Love

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

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Books

Free Y DNA Webinar at Legacy Family Tree Webinars

I just finished recording a new, updated Y DNA webinar, “Wringing Every Drop out of Y DNA” for Legacy Family Tree Webinars and it’s available for viewing now.

This webinar is packed full of information about Y DNA testing. We discuss the difference between STR markers, SNPs and the Big Y test. Of course, the goal is to use these tests in the most advantageous way for genealogy, so I walk you through each step. There’s so much available that sometimes people miss critical pieces!

FamilyTreeDNA provides a wide variety of tools for each tester in addition to advanced matching which combines Y DNA along with the Family Finder autosomal test. Seeing who you match on both tests can help identify your most recent common ancestor! You can order or upgrade to either or both tests, here.

During this 90 minute webinar, I covered several topics.

There’s also a syllabus that includes additional resources.

At the end, I summarized all the information and show you what I’ve done with my own tree, illustrating how useful this type of testing can be, even for women.

No, women can’t test directly, but we can certainly recruit appropriate men for each line or utilize projects to see if our lines have already tested. I provide tips and hints about how to successfully accomplish that too.

Free for a Limited Time

Who doesn’t love FREE???

The “Squeezing Every Drop out of Y DNA” webinar is free to watch right now, and will remain free through Wednesday, October 14, 2020. On the main Legacy Family Tree Webinar page, here, just scroll down to the “Webinar Library – New” area to see everything that’s new and free.

If you’re a Legacy Farmily Tree Webinar member, all webinars are included with your membership, of course. I love the great selection of topics, with more webinars being added by people you know every week. This is the perfect time to sign up, with fall having arrived in all its golden glory and people spending more time at home right now.

More than 4000 viewers have enjoyed this webinar since yesterday, and I think you will too. Let’s hope lots of people order Y DNA tests so everyone has more matches! You just never know who’s going to be the right match to break down those brick walls or extend your line back a few generations or across the pond, perhaps.

You can view this webinar after October 14th as part of a $49.95 annual membership. If you’d like to join, click here and use the discount code ydna10 through October 13th.

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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

Search Techniques for Y and Mitochondrial DNA Test Candidates

I utilize DNA matches in various ways, some of which are a little unusual. In many cases, I mine autosomal DNA matches to search for people whose Y and mitochondrial DNA can provide descendants, including me and them, with additional insights into our common ancestors.

Y and mitochondrial DNA connects testers to their ancestors in ways that autosomal cannot. It’s a different type of DNA, not combined with the DNA of the other parent, so it’s not diluted and halved in each generation like autosomal DNA. Y and mitochondrial lines each descend from only one ancestral line, rich in historical information, with the ability to reach far back in time along with the ability to connect testers recently.

You First

The very first thing you can do to further your own research is to test yourself in three ways:

  • Autosomal DNA – Test at all 4 primary testing vendors, meaning FamilyTreeDNA, MyHeritage, Ancestry and 23andMe. The reason for testing at (or transferring to) multiple vendors is because they each have a unique focus and tools. Perhaps more importantly, they each have different people in their databases. Each testing company has benefits. FamilyTreeDNA has people who tested as long as 20 years ago and are no longer available for testing. MyHeritage has many European testers and you’ll find matches there that you won’t find elsewhere if your ancestors came from Europe. Ancestry has the largest database, but fewer advanced tools.
  • Full Sequence Mitochondrial DNA Available at FamilyTreeDNA, this test allows focus solely on your matrilineal line, meaning your mother’s mother’s mother’s line directly without confusion introduced by DNA from other lines.
  • Y DNA – For males only, also available at FamilyTreeDNA, provides focus on the direct patrilineal, or surname, line.

Obviously, if you haven’t upgraded your own Y and mitochondrial DNA tests to the highest level possible, the first thing you can do is to test or upgrade to the highest level where you receive the most refined amount of information.

(There’s a sale at FamilyTreeDNA right now, lasting until August 31, 2020, so it’s a great time to upgrade or order Y and mitochondrial. Check it out here.)

Different Kinds of DNA Serve Different Genealogical Purposes

Let’s look, briefly at how the various types of DNA tests benefit genealogy. Autosomal tests that you and family members can take will help you find other family members to test for specific Y and mitochondrial DNA lines.

Remember that you can test family members in addition to yourself, so if you’re a female, you may want to recruit your father or an uncle or brother to represent your patrilineal line DNA. If you’d like to read a brief article about the different types of DNA and their benefits, 4 Kinds of DNA for Genetic Genealogy is a good resource.

Y and Mito Pedigree.png

In this image, you can see that if you’re a male you can test for both your Y (blue-square) and mitochondrial DNA (red-circle) ancestral lines. If you’re a female, you can test only your mitochondrial DNA because females don’t have a Y chromosome. Both males and females, of course, can test (green) autosomal DNA which reveals a different type of connection to all of your ancestral lines, but with autosomal, you have to figure out which people match you on which lines.

Y and mitochondrial DNA provides you with a different type of information about laser-focused specific lines that you can’t obtain through autosomal testing, and reaches back in time far beyond the curtain when surnames were adopted.

personal pedigree

You personally can only test for the red-circle mitochondrial DNA line, and perhaps the blue-square Y DNA line if you’re a male. Unless you find family members to test for the Y and mitochondrial DNA of your ancestors, you’re leaving valuable information unresearched. That means all those colored boxes and squares that aren’t blue or red.

I’ve solved MANY brick walls using both Y and mitochondrial DNA, often in conjunction with autosomal.

Let’s take a look at each type of DNA testing a little more in-depth, so that you understand how each one works and why they are important to genealogy.

The Specifics

Y DNA – Y DNA descends through the direct male paternal line and is inherited by men only. You match against other Y DNA testers, hopefully finding surname links.

The Big Y test and upgrade at FamilyTreeDNA provides testers with all 111 traditional STR markers, plus another 589+ STRs available only in the Big Y test, plus a scan of the balance of the rest of the Y chromosome that is useful for genealogy. SNP results are increasingly being used for genealogy, in addition to STRs.

SNPs group men into genetic lineages and STRs help with defining and refining the closest generations when matching to each other. Often, the benefits of these two tests overlap, which is why I recommend that males test to the Big Y-700 level which provides 700+ STR markers plus all SNPs with mutations that define ancestral lineages.

Y DNA haplogroups, derived from SNPs, reveal the geographic part of the world where the lineage originated, such as Europe, the Americas, Asia and Africa, as well as a migration path across the continents based on where SNPs are and were historically found. Ancient DNA samples are being added to the database.

If you or a family member took an earlier Y DNA test, you can upgrade to the Big Y-700 today which provides you with matching for both the STR markers and separately, SNP markers, along with other genealogical tools.

You can order or upgrade your Y DNA here. Don’t forget family members accounts you may control. They may agree to have their kit upgraded too.

To upgrade, sign in to your account, and click on your desired upgrade level under Y DNA testing.

ymt y upgrade.png

Then click on upgrades.

ymt upgrade.png

I wrote about Y DNA in these recent articles:

I have more Y DNA articles planned for the future.

You can search for additional articles by going to the main page of this blog and enter “Y DNA” into the search box for additional articles already published.

Many features such as the matches maps, haplogroup origins and ancestral origins pages are the same for Y DNA results as mitochondrial DNA results. You can view mitochondrial articles here.

Mitochondrial DNA (mtDNA) – Mitochondrail DNA descends through the direct matrilineal line to both sexes of children. Everyone has mitochondrial DNA and it is inherited matrilineally by you from your mother, from her mother, from her mother, etc.

The FMS or full mitochondrial sequence DNA test tests the entire mitochondria that provides information about your direct matrilineal line. Family Tree DNA provides matching, which can sometimes lead to genealogical breakthroughs such as when I identified Lydia Brown, the mother of my Phoebe Crumley and then a couple years later, her mother, Phoebe Cole – via mitochondrial DNA. Those discoveries led us to her mother, Mary Mercy Kent, via genealogy records. All we needed was to punch our way through that initial brick wall – and mitochondrial DNA was our battering ram.

Additionally, you’ll receive a full haplogroup designation which allows you to look back in time before the advent of surnames and identifies the location where your ancestral line came from. For those seeking confirmation of Native American heritage, Y and mitochondrial DNA provides unquestionable proof and doesn’t wash out in time as autosomal DNA does.

Mitochondrial DNA includes haplogroups, matching and other genealogical tools.

You can order or upgrade you or a family member’s mitochondrial DNA here.

To upgrade, sign in to your account, and click on the desired upgrade level.

ymt mt upgrade

Then click on Upgrade if you’re upgrading or Add On if you’re ordering a new product for yourself.

ymt add ons upgrades.png

I wrote several mitochondrial DNA articles and compiled them into a summary article for your convenience.

Autosomal DNA – With autosomal DNA testing, you test once and there’s not an upgrade unless the vendor changes DNA testing platforms, which is rare. Each of the four vendors compares your DNA with all other people who’ve taken that test, or transferred from other companies. They match you with descendants from all of your ancestral lines. While the Y and mtDNA tests look back deeply in time as well as recently on one specific line, the autosomal tests are broad but not deep, spanning all ancestral lines, but limited to approximately 10 generations.

Each autosomal vendor has unique benefits and focus as well as shortcomings. I’ve listed the major points for each vendor relative to searching for Y and mitochondrial
DNA testing candidates. It’s important to understand the advantages of each vendor because it will help you understand the testers you are most likely to find in each database and may help focus your search.

FamilyTreeDNA’s Family Finder

  • Because FamilyTreeDNA archives customer’s DNA for 25 years, many people who tested Y or mitochondrial DNA 20 years ago and are now deceased upgraded to autosomal tests when they became available, or have been upgraded by family members since. These early testers often reach back another generation or so into the past to people born a century ago.
  • Advanced autosomal matching integrates with Y and mitochondrial DNA along with surname and other projects
  • Phased Family Matching provides the ability to link family members that match you to your tree which allows Family Tree DNA to group matches as paternal or maternal by utilizing matching segments to the same side of your family
  • Genetic Affairs, a third-party tool available for testers, builds common trees by reading the trees of your matches and comparing their trees with your own to identify common ancestors.
  • Genetic Affairs builds trees and pedigrees of your matches by searching for common ancestors in your MATCHES trees, even if you have no tree or don’t share those ancestors in your tree. This functionality includes Y and mitochondrial DNA if you have tested. This facilitates discovery of common ancestors of the people who you match, which may well lead you to ancestral discoveries as well.
  • Genetic Affairs offers clustering of your shared matches.
  • DNA file transfers are accepted from other vendors, free, with a $19 one time fee to unlock advanced tools.
  • Family Tree DNA has tested people worldwide, with a few location exceptions, since inception in the year 2000.
  • No direct triangulation, but Phased Family Matching provides maternal and paternal side triangulation when matches can be grouped into maternal and paternal sides.
  • Matches and segment match information are available for download.
  • The great thing about the advanced matching tool at Family Tree DNA is that it facilitates searching for people who match you on different kinds of tests, so it helps determine the potential closeness or distance of Y and mitochondrial relationships.

MyHeritage

Ancestry

  • Ancestry has the largest database, but did not begin testing until 2012 and did not test widely outside of the US/UK for some time. They now sell tests in 34 countries. Their testers are primarily focused in the US, Canada, England, Scotland, Ireland, and diaspora, with some overlap into Europe.
  • Ancestry offers ThruLines, a tool that connects testers whose DNA matches with common ancestors in their trees.
  • Ancestry does not provide a chromosome browser, a tool provided by the other three primary testing companies, nor do they provide triangulation or matching segment location information necessary to confirm that you match on the same segment with other people.
  • Ancestry has issued cease and desist orders to third party tools that perform functions such as clustering, autotrees, autopedigrees or downloading of matches. Ancestry does not provide these types of features for their users.
  • Ancestry does not accept transfers, so if you want to be in Ancestry’s database, you must test with Ancestry.
  • No Y or mitochondrial DNA testing available.
  • Match list is not available for download.

23andMe

  • The primary focus of 23andMe has always been health testing, so many people who test at 23andMe are not interested in genealogy.
  • 23andMe tests are sold in about 50 countries, but not worldwide.
  • 23andMe provides a chromosome browser, triangulation, segment information and a beta genetically constructed tree for close matches.
  • 23andMe does NOT support a genealogical tree either uploaded or created on their site, making tree comparisons impossible.
  • Genetic Affairs AutoCluster works at 23andMe, but AutoTree and AutoPedigree do not because 23andMe does not support trees.
  • 23andMe does make match files available for downloading.
  • No Y or mitochondrial DNA full testing or matching, but basic haplogroups are provided.
  • 23andMe caps matches at 2000, less any matches that have opted out of matching. My matches currently number 1770.
  • 23andMe does not accept transfers from other vendors, so if you want to be in their database, you must test with 23andMe.

Reaching Out to Find Testers

Unfortunately, we only carry the mitochondrial DNA of our mother and only men carry the Y DNA of their father. That means if we want to obtain that DNA information about our other family lines, we have to find people who descend appropriately from the ancestor in question and test that person.

I’ll share with you how I search for people who descend from each ancestor. After finding that person, I explain the situation, why the different kinds of tests are important, and offer a testing scholarship for the Y or mtDNA test at Family Tree DNA if they have not already taken that test. If they’ve tested their autosomal DNA elsewhere. I also explain that they can transfer their autosomal DNA file for free too and will receive new matches.

Here’s an article with links to upload/download instructions for each testing company. Feel free to share.

Each DNA testing company has different features, but you can use all of the companies to find people descended in the appropriate way from each ancestor. It’s easier if you know how to utilize each vendor’s tools to optimize your chances of success. I’m going to step you through the search process with hints and tips for each vendor.

Finding Y DNA and Mitochondrial DNA Candidates at FamilyTreeDNA

Because FamilyTreeDNA tests for both Y and mitochondrial DNA and has for 20 years, you stand a better chance of finding a candidate there who may have already tested, so that’s where I always begin.

Y DNA

Let’s say, for example, that I need to find a male descendant of my Ferverda line in order to ask them to test for Y DNA. The person can be descended from either a close relative, if I know of one, or a more distant relative that I don’t know, but need to find through searching other ways.

Search for Surnames and Projects at Family Tree DNA

First, search the FamilyTreeDNA website for your goal surname among existing testers, and then the appropriate surname project to see if your line has already tested.

ymt ferverda

On the main page, here, scroll down to until you see the prompt, above, and enter the surname. Be sure to consider alternate spellings too.

ymt ferverda search.png

In this case, I see that there is a Ferverda surname project with 18 people, and scrolling on down, that 4 people with this specific surname have tested.

ymt results.png

However, searching for an alternate spelling, the way it’s spelled in the Netherlands, I find that another 10 people have tested.

ymt ferwerda

Of course, some may be females, but they probably know males by that surname.

First, I’m going to check the Ferverda DNA project to see if a Ferverda male from my line has tested, and if so, to what level.

Click on the project link in the search results to see the DNA Project.

ymt admin.png

Note two things. First, the administrator’s name, as you may need this later. If you click on their name, their email address is displayed.

Second, click on DNA Results and select Y DNA if you’re presented with a choice. If the project has a public facing page, and most do, you’ll see something like the following information.

ymt project

Hey look, it’s my lucky day, given that both of these men descend from my ancestor. I happen to know that they have both taken the Big Y test, because I’m the project administrator, but you won’t know that. One way to get an idea is if they have less than the full 111 markers showing, they probably haven’t taken the Big Y, because a 111 upgrade is included in the Big Y test today.

You have three options at this point to contact one of these men:

  • See if the people are on your own autosomal DNA match list, or the match lists of kits from that family that you manage. If so, you can view their email address and contact them. If you haven’t yet tested autosomally, meaning the Family Finder test, at Family Tree DNA, you can transfer autosomal tests from elsewhere, for free, which means you will be viewing matches within hours or a couple days. Otherwise, you can order a Family Finder test, of course.
  • If the person with the Ferverda or Ferwerda surname is not on your Family Finder match list, reach out to the project administrator with a note to the person you want to contact and ask the administrator to forward your email to the project member.
  • If the administrator doesn’t answer, contact Family Tree DNA support and make the same request.

Checking Family Finder, one of those people is on my match list and I’m pretty sure it’s the right person, because when I click on his profile, not only does the haplogroup match the DNA project, but so does the ancestor.

ymt ferverda profile.png

Searching Family Finder

If there isn’t a DNA project match you can identify as your direct line ancestor, you can search your Family Finder matches for the surname to find a male with that surname. If your match has a tree, see if your ancestor or ancestral line is showing, then note whether they have taken a Y DNA test. They may have taken a Y test, but have not joined a project or not entered any “earliest known ancestor.” You can see which tests they’ve taken by looking at the little tabs above their profile on their tree, or on their profile card.

ymt ferverda tree

click to enlarge

Regardless, you’re now in touch with a potential contact.

Don’t dismiss females with that surname, or people who show that surname in their ancestral surname list. Women with the surname you’re looking for may have husbands, fathers, brothers or uncles who descend from the line you are seeking.

ymt search field.png

Utilize Genetic Affairs

My ace in the hole at FamilyTreeDNA is the Genetic Affairs AutoTree and AutoPedigree function.

Genetic Affairs is a third-party tool that you can use to assist with analysis of your matches at FamilyTreeDNA.

ymt genetic affairs

click to enlarge

At Genetic Affairs, selecting AutoTree generates trees where common ancestors of you and your matches, or your matches to each other, are displayed.

Your goal is to identify people descended from a common ancestor either directly paternally through all males for Y DNA or through all females to the current generation, which can be males, for mitochondrial DNA.

This article provides step-by-step instructions for the Genetic Affairs AutoTree and AutoPedigree functions.

Mitochondrial DNA

Mitochondrial DNA lineages are a bit more challenging because the surname changes every generation and DNA projects are unlikely to help.

The AutoTree/AutoPedigree report through Genetic Affairs serves the same purpose for mitochondrial DNA – building trees that intersect with a common ancestor. I generally drop the “minimum size of the largest DNA segment shared with the match” to 7 cM for this report. My goal running this report for this purpose isn’t to analyze autosomal DNA, but to find testing candidates based on how my matches descend from a specific ancestor, so I want to include as many matches as possible.

Family Finder Can Refine Y and mtDNA Information

In some cases, a Family Finder test can refine a potential relationship between two people who match on either Y DNA or mitochondrial. Additionally, you may want to encourage, or gift, specific matches with an upgrade to see if they continue to match you at higher testing levels.

Let’s say that two men match closely on a Y DNA test, but you’d like to know how far back the common ancestor lived.

ymt y matches.png

In this instance, you can see that the second match has taken a BIg Y and a Family Finder test, but the exact match (genetic distance of 0) has not. If the first individual cannot provide much genealogy, having them take a Family Finder test would help at least rule out a relationship through second cousins and would give you at least some idea how far back in time your common ancestor may have lived. If you do match on Family Finder, you receive an estimate of your relationship and can check the match level possibilities using the DNAPainter Shared cM Tool. If they upgrade to the Big Y-700 test, you may be able to differentiate your line from theirs, or confirm when and where a split occurred – or that there is no split.

This same autosomal testing scenario works for mitochondrial DNA.

For people who have taken both tests, Family Finder plus either Y or mitochondrial DNA, the Advanced Matching menu allows you to select combinations of tests and projects to query.

ymt advanced

click to enlarge

Finding Y and Mitochondrial DNA Candidates at MyHeritage

MyHeritage provides a wonderful tool called Theories of Family Relativity (TOFR) which finds common ancestors between you and your DNA matches, even if the ancestor is not in both trees, so long as a path exists between the two testers’ trees using other trees or research documents, such as census records. Of course, you’ll need to verify accuracy.

ymt tofr.png

At MyHeritage, select DNA Matches, then “Has Theory of Family Relativity.”

ymt mh ferverda

click to enlarge

You can see that I have 65 matches with a Theory of Family Relativity. Additionally, I can then search by surname.

ymt mh ferverda tree.png

click to enlarge

If I am looking for a Ferverda Y DNA candidate, I’ve found one thanks to this TOFR.

If you don’t find a tree where your match descends from your ancestor in the desired way, you can also widen the search by de-selecting Theories of Family Relativity and instead selecting SmartMatchs or shared surname combined with the name of your ancestor. There are many search and filter combinations available.

Let’s look at a mitochondrial DNA example where I’m searching for a descendant of Elizabeth Speaks who married Samuel Clarkson/Claxton.

ymt smartmatches

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In this case, I have one SmartMatch, which means that someone by the name of Elizabeth Speaks is found in my matches tree. I need to look to see if it’s the RIGHT Elizabeth Speaks and if my match descends through all females to the current generation. If so, I’ve found my mitochondrial DNA candidate and I can leave them a message.

You can also view SmartMatches (without a DNA match) from your own tree.

I can go to that person in my tree, click on their profile, and see how many SmartMatches I have. Clicking on 13 SmartMatches allows me to view those matches and I can click through to the connected trees.

ymt mt speaks.png

I can also click on “research this person” to discover more.

If you’re still not successful, don’t give up quite yet, because you can search in the records for trees that shows the person whom you seek. A SmartMatch is only created if the system thinks it’s the same person in both trees. Computers are far from perfect.

ymt mh trees

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Narrow the search as much as possible to make it easier to find the right individual, and then view the trees for descent in the proper manner.

Another wonderful tool at MyHeritage is the Genetic Affairs AutoCluster tool, built-in for MyHeritage users.

ymt mh cluster.png

The above cluster shows that one person carries the surname of Elizabeth’s husband. Viewing the accompanying spreadsheet for the AutoCluster run reveals that indeed, I’ve already identified a couple of matches as descendants of the desired ancestral couple. The spreadsheet shows links to their trees, my notes and more.

ymt cluster ss

Clusters show you where to look. Without the cluster, I had only identified two people as descendants of this ancestral couple. I found several more candidates to evaluate and two mitochondrial candidates are found in this cluster.

Finding Y and Mitochondrial DNA Candidates at 23andMe

23andMe is a little more tricky because they don’t support either uploaded or created user trees which makes finding descendants of a particular ancestor quite challenging.

However, 23andMe attempts to create a tree of your closer relatives genetically. which you can find under “DNA Relatives,” under the Ancestry tab, then “Family Tree” at the top.

I’ve added the names of my ancestors when I can figure out who the match is. Please note that this “created tree” is seldom exactly accurate, but there are often enough hints that you’ll be able to piece together at least some of the rest.

Here’s part of my “created” tree at 23andMe. I’m at far right.

ymt23 tree.png

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If you’re a genealogist, your eyes are going to glaze over about now, because the “people” aren’t in the correct locations – with maternal and paternal sides of the tree swapped. Also, please note, the locations in which they place people are estimates AND 23andMe does NOT take into account or provide for half-relationships.

That said, you can still obtain candidates for Y and mitochondrial DNA testing.

In this case, I’m searching for a mitochondrial DNA candidate for Evaline Miller, my grandfather’s mother or a Y DNA candidate for the Ferverda line.

I can tell by the surname of the male match, Ferverda, that he probably descends through a son, making him a Y DNA candidate.

Both Cheryl and Laura are possible mitochondrial DNA candidates for Evaline Miller, based on this tree, depending of course on how they actually do descend.

I can contact all of my matches, but in the event that they don’t answer, I’m not entirely out of luck. If I can determine EXACTLY how the match descends, and they descend appropriately for mitochondrial DNA, I can view the match to see at least a partial haplogroup. Since 23andMe only uses relatively close matches when constructing your tree, I’m relatively likely to recognize the names of the testers and may have them in my genealogy program.

By clicking on the Ferverda male, I can see that his Y haplogroup is I-Z58. That’s not nearly as refined as the Y DNA information at Family Tree DNA, but it’s something if I have nothing else and he doesn’t answer my query that would include the offer of a Y DNA test at Family Tree DNA.

ymt 23 hap

You can search at 23andMe by surname, but unless your match has entered their ancestral surnames and you recognize surnames that fit together, without a tree, unless your match answers your query, it’s very difficult to determine how you connect.

ymt 23 search.png

You can also view “Relatives in Common,” hoping to recognize someone you know as a common match.

ymt relatives in common

Please note that 23andMe does allow testers to enter a link to a tree, but few do.

ymt tree link.png

It’s worth checking, and be sure to enter your own tree link location.

Finding Y and Mitochondrial DNA Candidates at Ancestry

Ancestry’s ThruLines provides an excellent tool to find both Y and mitochondrial DNA participants.

Ancestry organizes their ThruLines by ancestor.

ymt thrulines

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Select your desired Ancestor, someone whose DNA you seek. Clearly, Y DNA candidates are very easy because you simply choose any male ancestor in the correct line with the surname and look for a male match with the appropriate surname.

In this case, I’m selecting Martha Ruth Dodson, because I need her mitochondrial DNA.

ymt dodson.png

By clicking on her “card” I then see my matches assigned to her ThruLine.

Ymt ancestry thruline

Obviously, for mitochondrial DNA, I’m looking for someone descended through all females, so Martha’s daughter, Elizabeth Estes’s son Robert won’t work, but her daughter, Louisa Vannoy, at left is the perfect candidate. Thankfully, my cousin whom I match, at bottom left is descended through all females to the current generation, which can be male or female, so is a mitochondrial DNA candidate.

Finding Y and Mitochondrial DNA Candidates in Trees in General

I’ve utilized the combination of trees and DNA matches at FamilyTreeDNA through Genetic Affairs, Ancestry and MyHeritage, but you can also simply search for people who descend from the same ancestor based on their tree alone at the vendors who support trees as part of genealogical records. This includes both Ancestry and MyHeritage but also sites like Geneanet which is becoming increasingly popular, especially in Europe. (I have not worked extensively with Geneanet yet but plan to take it for a test drive soon.)

My reason for utilizing DNA matches+trees first is that the person has already been introduced to the concept that DNA can help with genealogy, and has obviously embraced DNA testing at least once. Not only that, with the assist of a Theory of Family Relativity, ThruLine or genetic Affairs automation tools, it’s much easier to find appropriate candidates.

Finding Y and Mitochondrial DNA Candidates at WikiTree

If you reach beyond DNA testing companies, WikiTree provides a valuable feature which allows people to specify that they descend from a particular ancestor, and if they have DNA tested, how they descend – including Y DNA, mitochondrial DNA and autosomal.

Here’s an example on the profile of John Y. Estes at WikiTree, one of my Estes ancestors.

ymt wiki.png

If someone descends appropriately for either Y or mitochondrial DNA line, and has taken that test, their information is listed.

In this case, there are two Y DNA testers and two autosomal, but no mitochondrial DNA which would have descended from John’s mother, of course.

You can click on the little green arrow icon to see how any DNA tested person descends from the ancestor whose profile you are accessing.

ymt wiki compare

Of course, the same surname for males is a good indication that the man in question is descended from that paternal line, but check to be sure, because some males took their mother’s surname for various reasons.

Here’s my line-of-descent from John Y. Estes. I can click on anyone else whose DNA information is listed as well to see how they descend from John. If they descend from John through all females, then they obviously descend from his wife though all females too which means they are a mitochondrial DNA candidate for her.

ymt wiki relationship.png

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Clicking on autosomal testers may reveal someone appropriately descended from the ancestor in question.

You can then click on any ancestor shown to view their profile, and any DNA tested descendants.

By clicking on name of the descendant whose DNA test you are interested in, you’ll be able to view their profile. Look for the Collaboration section where you can send them a private message that will be delivered by email from WikiTree.

ymt collaborate

Finding Y and Mitochondrial DNA Candidates at GedMatch

One final avenue to find Y and mitochondrial DNA candidates is through GedMatch, It’s probably the least useful option, though, because the major vendors all have some sort of tree function, except for 23andMe, and for some reason, many people have not uploaded GEDCOM files (trees) to GEDmatch.

Therefore, if you can find someone on GedMatch that tested elsewhere perhaps, such as LivingDNA who also provides a base haplogroup, or 23andMe, and they uploaded a GEDCOM file (tree) to GedMatch, you can utilize the GEDmatch “Find common ancestors” automated tree-matching functionality.

gedmatch mrca matches

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GEDmatch produces a list of your matches with common ancestors in their trees, allowing you to select the appropriate ancestor or lineage.

I wrote step-by-step instructions in the article, GEDmatch Introduces Automated Tree Matching.

Additionally, GEDmatch includes the Genetic Affairs AutoCluster tool in their Tier1 subscription offering,

ymt gedmatch.png

Gedmatch users who know their Y and mitochondrial haplogroup can enter that information in their profile and it will be reflected on the autosomal match list.

ymt gedmatch hap

Summary Chart

In summary, each testing vendor has a different focus and unique tools that can be used to search for Y and mitochondrial DNA candidates. Additionally, two other resources, WikiTree and GEDmatch, although not DNA testing vendors, can lead to discovering Y and mtDNA candidates as well.

I’ve created a quick-reference chart.

  Family Tree DNA MyHeritage Ancestry 23andMe Wikitree GEDmatch
Y DNA Test Yes No No No, partial haplogroup provided No test, listed by ancestor No, user entered
mtDNA Test Yes No No No, partial haplogroup provided No test, listed by ancestor No, user entered
DNA Projects Yes No No No Some Some
Strengths other than mentioned categories 20 year worldwide customer base, phased family matching European focus, SmartMatches, wide variety of filters Largest autosomal database Genetic tree beta DNA by ancestor May include users not found elsewhere who tested outside the major companies
Drawbacks No direct triangulation or tree matching No Genetic Affairs AutoTree or AutoPedigree Can’t download matches, no triangulation, clusters, AutoTree, or AutoPedigree No trees, 2000 match limit “One tree” may be incorrect Few trees, no AutoTree or AutoPedigree
Clustering Genetic Affairs Included in advanced tools No, prohibited Genetic Affairs N/A Included in Tier1
Genetic Affairs AutoTree & AutoPedigree Yes No No No, no tree support N/A No
Tree matching between users No, through Genetic Affairs Theories of Family Relativity ThruLines No Not directly MRCA common ancestors in Tier1

Now it’s your turn. Which Y and mitochondrial DNA lines can you find today?

Happy 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 Products and Services

Genealogy Research

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

_____________________________________________________________

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