Category Archives: Family Tree DNA

Genographic Project Prepares to Shut Down Consumer Data Base

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Today, on the National Geographic Society’s Genographic Project page, we find this announcement:

Genographic end

This is a sad day indeed.

  • Effective May 31, 2019, you can no longer purchase Genographic kits.
  • If you currently have an unsubmitted kit, you may still be able to submit it for processing. See this link for more information about your specific kit.
  • The Genographic website will be taken down December. 31, 2020. Your results will be available for viewing until then, but not after that date.
  • Data will be maintained internally by the Genographic project for scientific analysis, but will not be otherwise available to consumers. Miguel Vilar with the Genographic Project assures me that the underlying scientific research will continue.

Please Transfer Your DNA Results

The original Genographic project had two primary goals. The first being to obtain your own results, and the second being to participate in research.

If you are one of the 997,222 people in 140 countries around the world who tested, you may be able to transfer your results.

Depending on which version of the Genographic test you’ve taken, you can still preserve at least some of the benefit, for yourself and to scientific research.

Family Tree DNA Genographic transfer

Note that only Y and mitochondrial DNA results can be transferred, because that’s all that was tested. How much information can be transferred is a function of which level test you initially took, meaning the version 1 or version 2 test.

According to the Family Tree DNA Learning Center, people who transfer their results also qualify for a $39 Family Finder kit, which is the lowest price I’ve ever seen anyplace for an autosomal DNA test.

  • If you tested within the US in November 2016 or after, you tested on the Helix platform and your results cannot be transferred to Family Tree DNA.

If you have already tested your Y (males only) and mitochondrial DNA at Family Tree DNA, there is no need to transfer Genographic data. Family Tree DNA information will be more complete.

Salvage as Much as Possible

As a National Geographic Society Genographic Project Affiliate Researcher and long-time supporter, I’m utterly heartsick to see this day.

Please transfer what you can to salvage as much as possible. We already lost the Sorenson data base, Ancestry’s Y and mitochondrial DNA data base along with YSearch and MitoSearch. How much Y and mitochondrial DNA information, critical to genealogists and the history of humanity, has been lost forever?

Let’s not lose the Genographic Project information too. Please salvage as much as possible by transferring – and spread the word.

Please feel free to repost or preprint this article.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Mitochondrial DNA: Part 2 – What Do Those Numbers Mean?

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This is the second part in a series about mitochondrial DNA. The first article can be found here:

When people receive their results, generally the first thing they look at is matches, and the second thing is the actual results, found under the Mutations tab.

Mitochondrial personal page mutations.png

We’re going to leave working with matches until after we discuss what the numbers on the Mutations page actually mean.

Fair warning – if you’re not interested in the “science stuff,” then this article probably isn’t for you. We’re going to talk about the different kinds of mutations and how they affect your results and matching. I promise to make the science fun and understandable.

However, it’s only fair to tell you that you don’t need to understand the nitty-gritty to make use of your results in some capacity. We will be covering how to use every tab on your mitochondrial DNA page, above, in future articles – but you may want to arm yourself with this information so you understand why tools, and matching, work the way they do. All matches and mismatches are not created equal!

The next article in the series will be “Mitochondrial DNA: Part 3 – Haplogroups Unraveled” in which we’ll discuss how haplogroups are assigned, the differences between vendors, and how haplogroup results can be utilized for genealogy.

If you have your full sequence mitochondrial results from Family Tree DNA, it would be a good idea to sign on now, or to print out your results page so you can refer to your results while reading this article.

Results

I’m using my own results in these examples.

When you click on the “Results” icon on your personal page, above, this is what you’ll see.

Mitochondrial mutations

You can click to enlarge this image.

After you read the information about your haplogroup origin, your eyes will drift down to the numbers below, where they will stop, panic spreading throughout your body.

Never fear – your decoder ring is right here.

Where Did Those Numbers Come From?

The numbers you are seeing are the locations in your mitochondrial DNA where a mutation has occurred. Mutations, in this sense, are not bad things, so don’t let that word frighten you. In fact, mutations are what enables genetic genealogy to work.

Most of the 16,569 locations never change. Only the locations that have experienced a mutation are shown. Locations not listed have not experienced a mutation.

The number shown is the location, or address, in the mitochondrial DNA where a mutation has occurred.

However, there is more than one way to view your results.

Two Tabs – rCRS and RSRS

Mitochondrial RSRS

Click to enlarge this image.

You’ll notice that there are two tabs at the top of the page. RSRS values are showing initially.

rCRS and RSRS are abbreviations for “revised Cambridge Reference Sequence” and “Reconstructed Sapiens Reference Sequence.”

The CRS, Cambridge Reference Sequence was the reference model invented in 1981, at Cambridge University, when the first full sequencing of mitochondrial DNA was completed. Everyone has been compared to that anonymous individual ever since.

The problem is that the reference individual was a member of haplogroup H, not a haplogroup further back in time, closer to Mitochondrial Eve. Mitochondrial Eve was not the first woman to live, but the first woman to have a line of continuous descendants to present. You can read more about the concept of Mitochondrial Eve, here and about rCRS/RSRS here.

Using a haplogroup H person for a reference is kind of like comparing everyone to the middle of a book – the part that came later is no problem, but how do you correctly classify the changes that preceded the mutations that produced haplogroup H?

Think of mitochondrial DNA as a kind of biological timeline.

Mitochondrial Eve to rCRS.png

In this concept example, you can see that Mitochondrial Eve lived long ago and mutations, Xs, that formed haplogroups accrued until haplogroup H was born, and additional mutations continued to accrue over thousands of years.

Mitochondrial Eve to H and J.png

Haplogroup J, a different haplogroup, was born from one of mitochondrial Eve’s descendants with a string of their own mutations.

The exact same process occurred with every other haplogroup.

You can see a bare-bones tree in the image below, with H and J under different branches of R, at the bottom.

Mitochondrial bare bones tree.png

Using the rCRS model, the descendants of haplogroup J born today are being compared to the rCRS reference person who is a descendant of haplogroup H.

In reality, everyone should be being compared directly to Mitochondrial Eve, or at least someone much closer to the root of the mitochondrial phylotree than haplogroup H. However, when the CRS and then the revised CRS (rCRS) was created, scientists didn’t know as much as they do today.

In 2012, Dr. Doron Behar et al rewrote the mitochondrial DNA phylotree in the paper A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root by discerning what mitochondrial Eve’s DNA looked like by tracking the mutations backwards in time.

Then, the scientists redrew the tree and compared everyone to Mitochondrial Eve at the base of the tree. The RSRS view shows those mutations, which is why I have more mutations in the RSRS model than in the rCRS model where I’m compared with the haplogroup H person who is closer in time than Mitochondrial Eve. In other words, mutations that were considered “normal” for haplogroup J because haplogroup H carried them, are not considered mutations by both haplogroup J and H because they are both being compared to Mitochondrial Eve.

Today, some papers and individuals utilize the CRS version, and others utilize the RSRS version. People don’t adapt very well or quickly to change. Complicating this further, the older papers, published before 2012, would continue to reference rCRS values, so maintaining the rCRS in addition to the RSRS seemed prudent.

You can see the actual mtDNA haplotree here and I wrote about how to use it here.

Let’s look at the differences in the displays and why each is useful.

The Cambridge Reference Sequence

My rCRS results look a little different than the RSRS results.

Mitochondrial RSRS

Click to enlarge this image.

I have more mutations showing on the RSRS page, above, than in the rCRS page below, including only the information above the second row of black headers.

Mitochondrial rCRS page

Click to enlarge.

That’s because my RSRS results are being compared to Mitochondrial Eve, much further back in time. Compared to Mitochondrial Eve, I have a lot more mutations than I have being compared to a haplogroup H individual.

Let’s look at the most common example. Do you see my mutation at location 16519C?

Mitochondrial 16519.png

In essence, the rCRS person carried this mutation, which meant that it became “normal” and anyone who didn’t have the mutation shows with a mutation at this location.

Therefore, today, you’re very likely to have a mutation at location 16519C in the rCRS model.

In the RSRS results below, you can see that 16519C is missing from the HVR1 differences.

Mitochondrial DNA RSRS mutations.png

You can see that the other two mutations at locations 16069 and 16126 are still present, but so are several others not present in the rCRS model. This means that the mutations at locations 16129, 16187, 16189, 16223, 16230, 16278 and 16311 are all present in the rCRS model as “normal” so they weren’t reported in my results as mutations.

However, when compared to Mitochondrial Eve, the CRS individual AND me would both be reported with these mutations, because we are both being compared to Mitochondrial Eve.

Another difference is that at the bottom of the rCRS page you can see a list of mutations and their normal CRS value, along with your result.

Mitochondrial HVR1 rCRS mutations.png

For location 16069, the normal CRS value is C and your value is T.

Why don’t we have this handy chart for the RSRS?

We don’t need it, because the value of 16069C in the RSRS model is written with the normal letter preceding the location, and the mutated value after.

Mitochondrial nucleotides.png

You might have noticed that you see 4 different letters scattered through your results. Why is that?

Letters

The letters stand for the nucleotide bases that comprise DNA, as follows:

  • T – Thymine
  • A – Adenine
  • C – Cytosine
  • G – Guanine

Looking at location 16069, above, we see that C is the normal value and T is the mutated value.

Let’s look at different kinds of mutations.

Transitions, Transversions and Reversions

DNA is normally paired in a particular way, Ts with As and Cs with Gs. You can read more about how that works here.

Sometimes the T-As and C-Gs flip positions, so T-C, for example. These are known as transitions. A mutation with a capital letter at the end of the location is a transition.

For example, C14352T indicates that the normal value in this location is C, but it has mutated to T. This is a transition and T will be capitalized. The first letter is always capitalized.

If you notice that one of your trailing letters in your RSRS results is a small letter instead of a capital, that means the mutation is a transversion instead of a transition. For example, C14352a.

Mitochondrial DNA transitions and transversions.png

You can read more about transitions and transversions here and here.

When looking at your RSRS results, your letter before the allele number is the normal state and the trailing noncapital letter is the transversion. With C14352a, C is the normal state, but the mutation caused the change to a, which is a small letter to indicate that it is a transversion.

Original Value

 Typical Transition Pairing (large trailing letter)

Unusual Transversion Pairing (small trailing letter)

T

 C a or g

A

 G

c or t

C

 T

a or g
G A

c or t

An exclamation mark (!) at the end of a labeled position denotes a reversion to the ancestral or original state. This means that the location used to have a mutation, but it has reverted back to the “normal” state. Why does this matter? Because DNA is a timeline and you need to know the mutation history to fully understand the timeline.

The number of exclamation marks stands for the number of sequential reversions in the given position from the RSRS (e.g., C152T, T152C!, and C152T!!).

Mitochondrial DNA reversions.png

This means that the original nucleotide at that location was C, it changed to T, then back to C, then back to T again, indicated by the double reversion-!!. Yes, a double reversion is very, very rare.

Insertions

Mitochondrial DNA insertions.png

Many people have mutations that appear with a decimal point. I have an insertion at location 315. The decimal point indicates that an insertion has occurred, and in this case, an extra nucleotide, a C, was inserted. Think of this as DNA cutting in line between two people with assigned parking spaces – locations 315 and 316. There’s no room for the cutter, so it’s labeled 315.1 plus the letter for the nucleotide that was inserted.

Sometimes you will see another insertion at the same location which would be noted at 315.2C or 315.2A if a different nucleotide was inserted.

Complex insertions are shown as 315.XC which means that there was an insertion of multiple nucleotides, C, in this case, of unknown length. So the number of Cs would be more than 1, but the number was not measurable so the unknown “X” was used.

Some locations, such as 309 and 315 are so unstable, mutating so often, that they are not included in matching.

Deletions

Deletions occur when a piece of DNA is forever removed. Once deleted, DNA cannot regenerate at that position.

A deletion is indicated by either a “d” or a “-“ such as 522d or 522-.

Deletions at locations 522 and 523 are so common that they aren’t utilized in matching either.

Extra and Missing Mutations

On the RSRS tab, you’ll notice extra and missing mutations. These are mutations that vary from those normally found in people who carry your haplogroup. Missing and extra mutations are your own personal DNA filter that allow you to have genealogically meaningful matches.

Mitochondrial DNA extra and missing mutations.png

Extra mutations are mutations that you have, but most people in your haplogroup don’t.

Missing mutations are mutations that most people have, and you don’t.

Heteroplasmies

A heteroplasmy is quite interesting because it’s really a mutation in progress.

What this means is that you have two versions of the DNA sequence showing in your mitochondrial DNA at that location. At a specific location, you show both of two separate nucleotides. Amounts detected of a second nucleotide over 20% are considered a heteroplasmy. Amounts below 20% are ignored. Generally, within a few generations, the mutation will resolve in one direction or the other – although I have seen some heteroplasmies that seem to be persistent for several generations.

Heteroplasmies are indicated in your results by a different letter at the end of the location, so for example, C16069Y where the Y would indicate that a heteroplasmy had been detected.

The letter after the location has a specific meaning; in this case, Y means that both a C and a T were found, per the chart below.

Mitochondrial DNA heteroplasmy.png

Heteroplasmy Matching

Technically, using the example of C16069Y, where Y tells us that both C and T was found, this location should match against anyone carrying the following values:

  • C (original value)
  • T (mutated value)
  • Y (letter indicating a heteroplasmy)

However, currently at Family Tree DNA, the heteroplasmy only counts as a match to the Y (specific heteroplasmy indicator) and the CRS value or C, but not the mutated value of T.

Genetic Distance

The difference in matching locations is called the genetic distance. I wrote about genetic distance in the article, Concepts – Genetic Distance which has lots of examples.

When you have unusual results, they can produce unexpected consequences. For example, if a heteroplasmy is found in the HVR 1 or 2 region, and a woman’s child doesn’t have a heteroplasmy, but does have the mutated value – the two individuals, mother and child, won’t be shown as a match at the HVR1/2 level because only exact matches are shown as matches at that level.

That can be pretty disconcerting.

If you notice something unusual in your results, and you match someone exactly, you know that they have the same anomaly. If you don’t match the person exactly, you might want to ask them if they have the same unusual result.

If you expect to match someone, and don’t, it doesn’t hurt to begin discussions by asking about their haplogroup. While they might be hesitant to share their exact results values with you, sharing their haplogroup shouldn’t be problematic. If you don’t share at least the same base haplogroup, you don’t need to talk further. You’re not related in a genealogically relevant timeframe on your matrilineal line.

If you do share the same haplogroup, then additional discussion is probably warranted about your differences in results. I generally ask about the unusual “extra and missing” mutations, beginning with “how many do you have?” and discussing from there.

Summary

I know there’s a lot to grasp here. Many people don’t really want to learn the details any more than I want to change my car’s oil.

For more information, you can call, e-mail or e-chat with the support department at Family Tree DNA which is free.

Next Article – Haplogroups

Your haplogroup, which we’ll discuss in the next article, can eliminate people as being related to you in the past hundreds to thousands of years, but you need the information held in all of your 16,569 locations to perform granular genealogical matching and to obtain all of the available information. In order to obtain all 16,569 locations, you need to order the mtFull Sequence test at Family Tree DNA.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

GedMatch Implements Required Opt-In for Law Enforcement Matching

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GedMatch has provided an autosomal suite of tools for genealogists that isn’t offered elsewhere for several years now. Their basic service is free but their advanced tools, known at Tier 1, are subscription. GedMatch is comprised of two individuals, Curtis Rogers and his partner. I know them both and have for years.

Every serious genealogist uses or has used GedMatch because it’s the only place that provides the unique blend of tools they offer. In addition to testing at or transferring to multiple vendors, GedMatch is an integral part of fishing in every pond.

However, GedMatch has been under fire for a year.

Law Enforcement Kit Matching

In April 2018, GedMatch made news, and eventually the New York Times, when the database was utilized to catch the Golden State Killer (GSK). I wrote about that here.

GedMatch felt that they were unable to stop the uploading of forensic kits, meaning kits created from evidence left at crime scenes, so they chose to embrace working with law enforcement to catch violent criminals and identify victims whose DNA is obtained from their remains.

How often does this really work?

In the fall of 2018, a paper titled Re-identification of genomic data using long range familiar searches was published by Yaniv Erlich et al and stated:

“Here, we leveraged genomic data of 600,000 individuals tested with consumer genomics to investigate the power of such long-range familial searches. We project that half of the searches with European-descent individuals will result with a third cousin or closer match and will provide a search space small enough to permit re-identification using common demographic identifiers. Moreover, in the near future, virtually any European-descent US person could be implicated by this technique.”

This certainly gives law enforcement reason to believe that if they could upload evidence kits from violent crime scenes and victims, that they could be identified. The cases solved since that time have proven the paper’s statement to be accurate.

Legally, this is known as “probable cause” and would provide law enforcement with a valid reason to petition the court for a search warrant to order that forensic kits be allowed to be uploaded to identify murderers and rapists. It’s likely that they can be identified, which would justify the issuance of a search warrant.

A few months later, in January 2019, Family Tree DNA began allowing law enforcement to upload kits of murderers, rapists and cases of abduction in addition to deceased unidentified victims after screening and approval on a case by case basis. The Family Tree DNA Law Enforcement Guide is here and their Law Enforcement FAQ is here.

I don’t think a comprehensive list exists of the cases solved since GSK, but I know it’s in excess of 30. Not all solved cases have been revealed at this point.

The Kerfuffle

Within the genetic genealogy community, allowing law enforcement to upload DNA kits in order to identify the perpetrators of crimes and unidentified victims has caused an uproar, to put it mildly. Said another way, it has divided the community in half in an ugly way with both sides feeling they are on morally sound and superior ground.

Although surveys published in this academic article show that more than 90% of people are in favor, some of the genetic genealogy community influencers feel otherwise and specifically, that without every person in the data base giving individual consent for this type of matching, that law enforcement matching is unethical. Some are reasonable and will discuss the situation civilly, and others, not so much.

I disagree, in part, because other types of searches such as for biological parents that can have devastating consequences are viewed in another light entirely with many of these same people employed in the search for unknown parents. These searches using the exact same techniques and databases have resulted in destroyed families and murders.

In one case, Michael Lacopo’s mother murdered her father after Michael identified the father using DNA. You can read Michael’s story, here. There are also other very ugly incidents that I’m not at liberty to discuss.

Law enforcement searches for matches to identify criminals, on the other hand, lead to the apprehension of violent offenders.

I shared my opinion in the article, Things That Need To Be Said: Victims, Murder and Judgement.

Every time a new case is solved and hits the news, the outrage begins anew, culminating this past week when Curtis Rogers allowed law enforcement to utilize GedMatch for the identification of a person who broke into a church in Utah and assaulted the elderly 71 year old organist who was practicing in the church alone, strangling her from behind and leaving her for dead. You can read about the assault here.

Had the organist died, it would have been within the GedMatch guidelines, but because she did not, this was technically a breach of the GedMatch terms of service – although in one place their guidelines said “violent crimes” and from my perspective, there is no question that this event qualifies. Thank goodness the 17 year old perpetrator has been identified and is being dealt with before he actually does kill someone.

Regardless, this episode in addition to other recently solved cases culminated with a number of community “influencers” removing both GedMatch and Family Tree DNA from presentations and openly discouraging the use of both companies on Facebook, in blog articles and in other venues. In other words, a boycott and censure, effectively.

Some of the “influencers” have been repeatedly working with BuzzFeed, as in this Buzzfeed story about the Utah case, yet others called for a more balanced approach that would not destroy the resources, companies and community built over the last two decades. Shannon Christmas wrote a balanced article here as did Maurice Gleeson here.

What Happened?

Yesterday, GedMatch sent e-mails to law enforcement providers and a few others, stating that they were changing their terms of service. The contents of the e-mail have been posted on social media, but I’m not comfortable publishing the exact verbiage, other than to say that GedMatch has proceeded, both initially and now, with the best interests of everyone at heart.

Curtis Rogers is concerned that the extreme paralytic division and resulting polarization  is in essence threatening genetic genealogy as a whole.

Extrapolating from that, if the “influencers” manage to kill GedMatch and Family Tree DNA, not only will the community have lost incredibly important resources that are not and cannot be duplicated elsewhere, law enforcement will have lost extremely valuable resources for identifying both criminals and victims. In other words, everyone loses.

Therefore, GedMatch has implemented a new opt-in policy for law enforcement matching.

GedMatch’s New Opt-In Policy

Effective immediately, GedMatch has set all kits, of everyone in their database, to opt-out, meaning that now no kits at all can be used for matching by law enforcement unless users specifically opt-in. Here’s the GedMatch announcement on their webpage after you sign in.

GedMatch LE opt in change.png

This means that if you are at GedMatch, no kits in your account can now be utilized for law enforcement matching. This is clearly a devastating blow to law enforcement, in part because every database is biased towards whatever the default value is. People either don’t read or don’t bother to make changes. Many have abandoned their accounts or died.

GedMatch has already added an opt-in capability meaning that everyone will have to select “opt-in” to make their kit available for law enforcement matching.

The new GedMatch new Terms of Service are here.

Please Opt-In

We are much better as a society with the likes of John Miller, identified through GedMatch, who raped and murdered 7 year old April Tinsley put behind bars where he can’t damage anyone else. DNA identification has also provided closure to many families whose relatives have been missing for years, such as Audrey Lee Cook and Donna Prudhomme who were killed in the 1980s and whose remains were identified using the Family Tree DNA database.

I hope everyone will opt-in, and quickly, so we can rebuild the data base available to law enforcement for matching.

GedMatch LE opt out.png

Viewing the list of kits that I manage on GedMatch, you can see that my kit is listed with a red X through police BY DEFAULT, even though I never made that selection. Your default is “NO” as well.

Clicking on the pencil enables viewing and changing my profile.

Enable Law Enforcement Matching

Here are the steps necessary to enable law enforcement matching.

GedMatch profile.png

Update – note that I’m told that the options above, with LE and no LE have been positionally swapped – so please read, not just follow my pattern.

Notice my default status is “Public, no LE access.” LE means law enforcement.

GedMatch LE opt in.png

In order to change my status, I must BOTH click the radio button that says “Public, with LE access” AND click Change.

This is a 2-step process and if you forget to click change, you’ll think you enabled LE matching, but you didn’t.

Other options include:

  • “No public access” at all, which means that you cannot utilize the kit for matching
  • “Research” which means you can use the kit for matching, but no one else can see your results in their match list.

After the change, your kit should show the status as “Yes, opt-in LE access,” shown at left, below.

GedMatch opt in success.png

Please take the time to change your kits to “Public, with LE access” at GedMatch to enable matching to law enforcement kits to get the criminals off our streets and identify victims, providing closure to families.

Family Tree DNA

Please also upload your kits to Family Tree DNA for the same reason. At Family Tree DNA, currently if you are in the US you are opted in automatically, and if you are in an EU country you were opted-out automatically due to GDPR regulations. EU users since March 12th when the initial opt-out occurred should check their status. You can change either option after signing in by clicking on “Manage Personal Information,” then “Privacy and Sharing.”

The DNA file transfer and matching are both free. Here are instructions.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Mitochondrial DNA: Part 1 – Overview

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This is Part 1 of a series about mitochondrial DNA, abbreviated as mtDNA, and how to use it successfully for genealogy.

What is Mitochondrial DNA and Why Do I Care?

Mitochondrial DNA.jpg

Mitochondrial DNA is different from nuclear, or autosomal, DNA. Nuclear DNA resides within the nucleus of a cell, while mitochondrial DNA resides outside the nucleus.

Mitochondrial DNA nucleus.png

Every cell has thousands of mitochondria while it only has one nucleus.

Mitochondrial DNA is a circular ring with 16,569 base pair locations. The biological purpose of mitochondria is to power the organism, converting chemical energy into a form that the cells can utilize.

Mitochondrial DNA is also different from autosomal DNA in how it is passed to offspring.

Inheritance Path

Mitochondrial DNA is unique because all people, males and females, inherit their mitochondrial DNA from their mothers, but only females pass it on to their children.

Y and mtDNA inheritance

The chart above illustrates which individuals in your tree inherit their mitochondrial DNA from whom.

Mitochondrial DNA inheritance.png

The daughter and son both inherit their mitochondrial DNA from their mother, who inherits hers from her mother, and so forth – on up the direct matrilineal line. You can read about the difference between matrilineal and maternal lines, here. In essence, maternal can be referring to anyone on your mother’s side of your tree, while matrilineal is your mother’s mother’s mother’s line ad infinitum.

However, every person in this tree carries mitochondrial DNA of specific ancestors.

Mitochondrial DNA inheritance 2.png

The red arrows show the inheritance path of mitochondrial DNA for individuals whose contributors are also in the tree.

The father of the children inherited his mitochondrial DNA from his magenta mother’s matrilineal line.

His father inherited his mitochondrial DNA from his lavender mother’s line.

The maternal grandfather in dark blue inherited his mitochondrial DNA from his red mother’s line.

Mitochondrial DNA inheritance 3.png

The gold arrows show that the contributors of these individuals are not shown on this tree, but they all inherited their mitochondrial DNA from their matrilineal lines as well.

When discussing mitochondrial DNA, we generally think in terms of ourselves, but the application of mitochondrial DNA to genealogy is as far reaching as all of our ancestors.

Each line has its own unique story for us to harvest – assuming we can find an appropriate candidate for testing or find someone who has already tested.

Why Mitochondrial DNA Works

Mitochondrial DNA is inherited from our matrilineal line directly, with no genetic contribution from any males. This inheritance path allows us to use mitochondrial DNA for matching to others reaching back generations as well as providing a way to view beyond the line-in-the-sand of surnames.

In other words, because mitochondrial DNA is not mixed with DNA from the fathers, it’s very nearly identical to our matrilineal ancestors’ mitochondrial DNA many generations ago.

In fact, by tracing a series of mutations, we can track our ancestor over time from mitochondrial Eve, born in Africa tens of thousands of years ago to where we are today.

Mutations Happen

If mutations never occurred, the mitochondrial DNA of all people would be identical and therefore not useful for us to use for genealogy or to peer back in time beyond the advent of surnames.

Mutations do occur, just not on any schedule. This means that it’s difficult to predict how long ago we shared a common ancestor with someone else based solely on mitochondrial DNA mutations.

There might be a mutation between us and our mother, or there might be no mutations for hundreds or even, potentially, thousands of years.

Part of the success of matching genealogically with mitochondrial DNA testing has to do with the regions tested.

Testing fewer locations results in matches that are much less relevant.

The Regions

Mitochondrial DNA is divided into 4 regions used for genealogy.

  • HVR1 – Hypervariable Region 1 – locations 16021-16569 (548 total locations)
  • HVR2 – Hypervariable Region 2 – locations 1-437 (437 locations)
  • HVR3 – Hypervariable Region 3 – locations 438-576 (138 locations)
  • Coding Region – the balance of the mitochondria (15,445 locations)

If you think of mitochondrial DNA as a clock face, the hypervariable regions span the time from approximately 11-1. The Coding Region is the balance.

Mitochondrial DNA loop.png

Family Tree DNA bundles the HVR3 region with the HVR2 region in their results. They test the entire D Loop, meaning a total of 1124 locations in their mtPlus product.

Matching at the HVR1 or HVR1 plus HVR2/3 levels alone can reach back thousands of years in time. I strongly encourage testers to test at the higher full sequence level with the mtFull product, allowing much more granular matching.

The HVR1, 2 and 3 regions are exactly as their name suggests – hypervariable – meaning that they mutate faster than the coding region.

The mtFull or full sequence test tests the entire mitochondria – all 16,569 locations.

Genealogists need a full sequence test in order to do two things:

  • Match with other testers reliably
  • Obtain a full haplogroup which acts as a periscope in time, allowing us to look much further back in time than autosomal and on one specific line. There’s no confusion as to which line the results came from with mitochondrial DNA.

If you’ve only taken the mtPlus test, don’t worry, you can sign on here and upgrade at any time to the mtFull.

Medical Information

The coding region carries most of the potentially medically relevant locations. Medical data is not provided in the results of the testing – only genealogically relevant information.

Family Tree DNA does provide for HVR1 and HVR2/3 results to be shown in projects that testers join, if testers so choose. Coding region results are never shared anyplace unless individual testers share them individually with each other.

I’m personally not concerned about this, but mitochondrial DNA testing has been occurring for 20+ years now and it was uncertain at that early date what medical information might be discovered in the coding region, so the decision to not share was made by Family Tree DNA at that time and remains in effect today.

Today, Family Tree DNA is the only vendor to test your full sequence mitochondrial DNA and provide matching. Therefore, all examples in this series utilize results and tools at Family Tree DNA.

So, what can people see of your actual results?

What Matches See

Mitochondrial DNA match view

You can click this image to enlarge.

People whom you match can see that you do match, but they can’t see any differences or mutations. They see the name you’ve entered, your earliest known ancestor and can send e-mail to you. Aside from that, they can’t see your results or mutations unless you’ve joined a project.

Within projects, participant names are never listed publicly. In other words, your matches can’t tell that it’s you unless they recognize your earliest known ancestor on the project list and you are the only person with that ancestor.

Don’t worry though, because only your HVR1 and HVR2 region results are listed in projects, as shown in the next section.

Benefits of Joining Projects

The great news is that even if you’ve just ordered your test and are waiting for results, you can research and join projects now.

Projects at Family Tree DNA provide testers with access to volunteer administrators to help as well as clustering users in projects that are meaningful to their research.

Mitochondrial DNA hap A project.png

The haplogroup A project is shown above with maternal earliest known ancestor (EKA) names as provided by testers.

Another important project feature is the project map function, allowing testers in a specific haplogroup to view the locations of the earliest known ancestors of other members of the same haplogroup – whether they match each other or not. Your ancestors traveled with theirs and descended from a common ancestor. Cool, huh!

Mitochondrial DNA hap A10 map.png

For example, here’s the haplogroup A10 cluster around Montreal. What’s the story associated with that distribution? Whatever it is, it’s probably important genealogically.

Mitochondrial DNA hap A5a1a1 map.png

Here’s haplogroup A5a1a1 in Japan.

Do you have clusters? You can see if you join relevant projects.

Another type of project to join is a geographical or interest group.

The Acadian AmerIndian Project welcomes descendants who have tested the Y, autosomal and/or mitochondrial DNA of the various Acadian families which includes French and English settlers along with First Nations indigenous ancestors.

Mitochondrial DNA Acadian Amerindian project.png

The map shows the distribution of the haplogroup A2f1a ancestors of various Acadian testers.

Mitochondrial DNA Acadian hap A2f1a map.png

Projects such as the Acadian AmerIndian Project facilitate genealogists discovering the haplogroup and information about their direct line ancestor without testing.

For example, if Anne Marie Rimbault, shown above, is my ancestor, by viewing and hopefully joining this project, I can harvest this information about my ancestor. I can’t personally test for her mitochondrial DNA myself, but thankfully, others who do descend matrilineally from Anne Marie have been generous enough to test and share.

Furthermore, I’ve contacted the tester through the project and gained a great cousin with LOTS of information.

Just think how useful mitochondrial DNA would be to genealogists if everyone tested!

Finding Projects to Join

I encourage all testers to join appropriate haplogroup projects. There may be more than one. For mitochondrial haplogroup J, there is only one project, but for those who carry haplogroup H, there is a haplogroup H project and many additional subgroup projects.

I also encourage you to browse the selections and join other interest projects. For example, there are projects such as Cumberland Gap which is regional, the American Indian project for people researching Native ancestry, in addition to your relevant haplogroup project(s).

When deciding which projects to join, don’t neglect your mitochondrial DNA. Your selection may be a huge benefit to someone else as well as to your own research.

How to Join Projects

Sign on to your personal page at Family Tree DNA and click on myProjects at the top, then on “Join A Project.”

mitochondrial dna project join.png

Next, you’ll see a list of projects in which your surname appears. These may or may not be relevant for you.

Mitochondrial project list

You can click to enlarge this image.

You can search by surname.

Mitochondrial project search.png

More importantly, you can browse in any number of sections.

Mitochondrial project browse.png

For mitochondrial DNA, I would suggest specifically mtDNA haplogroups, of course, along with mtDNA Geographical Projects, Dual Geographical Projects, and mtDNA lineage projects.

Surname projects are more challenging for mitochondrial DNA since the surname changes every generation.

When you find a project of interest, click to read the description written by the volunteer administrators to see if it’s a good fit for you, then click through to join.

Next Article in the Series

Of course, you’re probably wondering what all of those numbers in your results and shown in projects mean. The next article in about a week will address exactly that question.

Reference Articles

These articles may be of interest.

Mitochondrial DNA is often confused with X DNA, and they are not at all the same.

Mitochondrial DNA can quickly confirm or put to rest that Native American ancestor family story.

A great example of using mitochondrial DNA to break through a brick wall that would never have fallen otherwise!

If you haven’t yet tested, your can order your mtFull Sequence test today!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

 

DNA Day Prices and Vendors’ Best Features

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DNA Day always produces great sales at the DNA testing companies. Here’s a breakdown of the prices available this week and the best autosomal feature of each vendor.

Company Regular Price Sale Price Ethnicity Matching to other testers Additional Tools Best Feature
FamilyTreeDNA – Family Finder *1 *2 79 49 Yes Yes Yes Maternal and paternal bucketing of matches without parents testing
MyHeritageDNA *5 79 59 Yes Yes Yes Theories of Family Relativity, triangulation
AncestryDNA *2 *6 99 69 Yes Yes Yes Data base size
23andMe Ancestry *3 99 99 Yes Yes Yes Ethnicity breakdown by chromosome segment
LivingDNA *4 99 59 Yes No *4 No Focus on British Isles

*1 – Family Tree DNA also sells both Y and mitochondrial DNA tests. For information on sale prices for those products, please see this article.

*2 – Sale ends April 25th.

*3 – The 23andme Ancestry plus Health test is on sale here for $169 versus the normal price of $199. Sale ends May 13th. Free shipping.

*4 – Sale expiration date not provided. LivingDNA’s matching has been in a very preliminary stage for months, and while I feel confident that eventually they will have viable matching, today matching should not be considered in a purchase decision.

*5 – Sale ends April 28th. Free shipping with purchase of 2 or more kits.

*6 – Free shipping through Amazon on Ancestry test at this link.

Test yourself and close family members (parents, aunts, uncles, cousins, grandparents, etc.), especially the older generations, to make full use of the tools and matching.

Fishing in all the ponds either directly or by transfer assures that you don’t miss that critical match.

Many of these prices only last 2 more days.

Enjoy!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Thirteen Good Reasons to Test Your Mitochondrial DNA

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Your mitochondrial DNA is a treasure trove of information for one specific line of your genealogy – providing refined information that autosomal tests simply can’t provide.

Some people say mitochondrial isn’t useful, but here’s just one example of mitochondrial DNA bulldozing a brick wall, along with some helpful tips.

But, I Already Know My Haplogroup

Customers who take autosomal tests receive basic haplogroup information from both 23andMe and LivingDNA for their matrilineal line – but that’s just the tip of the iceberg.

Let’s talk about why someone would want to take the full sequence mitochondrial DNA test (mtFull Sequence) at Family Tree DNA if they have already received their haplogroup.

Let’s start out with a very brief description of exactly how mitochondrial DNA testing works.

OK, How Does Mitochondrial DNA Work?

Mitochondrial DNA follows the matrilineal line directly, meaning your mother’s mother’s mother’s mother’s line on up the tree until you run out of mothers and smack dab into your brick wall.

Your mitochondrial DNA is not mixed with DNA of the various fathers, so what you’re seeing is the same mitochondrial DNA that your ancestors carried for many generations, sometimes with a few mutations that accrue over time.

Mitochondrial DNA Who to Test

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

In the pedigree chart above, the pink daughter or son at the bottom of the chart inherited their mitochondrial DNA from the pink direct matrilineal lineage, while their light blue father inherited his mitochondrial DNA from his mother’s magenta lineage.

Stepping back a generation, the dark blue maternal grandfather inherited his mitochondrial DNA from his red mother. The light blue paternal grandfather inherited his from his buttercup-yellow mother – and so forth.

Everyone, males and females both, can test their mitochondrial DNA to see what secrets it reveals.

You don’t know what you don’t know – and if you don’t test your mitochondrial DNA, you’re leaving undiscovered information relevant to several ancestors on the table.

What Information Do I Receive When I Test?

Let’s look at the benefits of testing, the information you’ll receive and what it can do for you. I’m using my own results at Family Tree DNA as an example.

  • Matching – The number one reason to test your full sequence mitochondrial DNA is matching. Your results are matched to the results of other testers. This means you have the opportunity to discover distant cousins who share direct matrilineal ancestors.

mitochondrial matches

I have 71 full sequence matches, about half of which have entered an “Earliest Known Ancestor.” Many have uploaded trees – 4 of the 5 shown above. You may discover other testers who share the same ancestor, a common geography, or people who have pushed your ancestral line back another generation or two. Matching includes your matches trees, if they create or upload one, and their e-mail address so that you can reach out and share.

I’ve broken through more than one seemingly impossible brick wall utilizing mitochondrial DNA matches.

  • Your Full Haplogroup – While autosomal DNA tests can “target test” a few haplogroup defining locations, they can’t test every location needed for a complete haplogroup. For example, my haplogroup at the various vendors is only a subset, like J1c, of my J1c2f. To learn about the history of my ancestors, I need the entire haplogroup.

mitochondrial DNA J1c2f.png

  • Identifying Origins – Mitochondrial DNA haplogroups provide a periscope view into origins, such as Native American ancestors, those of European origin, Asian or African, and subgroupings therein.

Haplogroup J is European, but some of my other ancestors carry Native American mitochondrial DNA which serves to unquestionably prove that line is Native, regardless of how far back in time. Autosomal DNA ethnicity testing can’t do this and is nonspecific to any particular line.

Think your direct matrilineal line might be Native? This is the acid test!

  • Periscope Through Time – Mitochondrial DNA testing allows you to peer behind the veil of your brick wall in that specific line, to view the origins of that ancestor and where her ancestors originated hundreds and thousands of years before surnames originated.

Mitochondrial periscope.png

  • Your Actual Results – Your actual test results, including mutations, hold interesting information, such as genetic locations where you have insertions or deletions along with unusual extra and missing mutations which are the sources of your differences when you match other testers. These mutations arose in a relatively recent time-frame, genetically speaking. Some mutations known as heteroplasmies carry even more information about very recent “mutations in process.”

Mutations are your personal “genetic filters,” meaning that the more matching mutations you have with someone, the closer your common ancestor.

mitochondrial results.png

Look, I have 5 extra mutations and all of my full sequence exact matches have all of those extra mutations too!

  • Haplogroup Origins – Geographic locations where your haplogroup is found and how many of your matches are found in that location.

mitochondrial DNA haplogroup origins.pngmitochondrial DNA haplogroup origins chart.png

It appears that haplogroup J1c2f is found exclusively in Northern Europe and Scandinavia. Is there a message here?

  • Ancestral Origins – Countries where your matches indicate that their earliest known mitochondrial ancestor is from.

mitochondrial DNA ancestral origins.pngmitochondrial DNA ancestral origins chart.png

Wow – my full sequence exact matches are almost all Scandinavian.

  • Match Maps – Match maps show you the locations of the earliest known ancestors of your matches, plus the identity of each match by clicking on the colored pin. I’m the white pin.

mitochondrial DNA match map.png

My exact matches, in red, are mostly found in Sweden and Norway, but one is located in Russia and one in Poland. I wonder what history would account for this distribution. There’s a story that needs to be uncovered and told.

  • Migration Map – The path your ancestors took when migrating out of Africa to the location where you find them.

mitochondrial DNA migration map.png

Haplogroup J is found in Europe, but not in Africa, the Americas or Asia.

  • Haplogroup Frequency Map – The frequency by percentage of the people from a specific location that carry a particular haplogroup.

mitochondrial DNA frequency map.png

This interactive map shows that 9.34% of Europeans carry a subset of haplogroup J today. It’s easy to see where the haplogroup is and isn’t found.

  • Projects – Testers can join numerous projects at Family Tree DNA administered by volunteers that reflect specific interests. For example, for people with Native American ancestors, the American Indian project is a good choice.

Haplogroup projects provide the ability to view your results grouped with others in the same subhaplogroup – even if you don’t match everyone in that group. Projects also provide maps of the locations of earliest known ancestors in each group.

mitochondrial DNA haplogroup map.png

I’m a member of the haplogroup J project. Ancestral locations of other people in the project who are members of haplogroup J1c2f are shown above. This map includes people that I match as well as people that I don’t, but with whom I still share an ancestor further back in time.

  • Mitochondrial DNA Haplotree – Not only can you view the Haplotree, but the results of Family Tree DNA’s customers who have taken the full sequence test provide the data for the tree. Testing isn’t just about obtaining information, but contributing to the science as well. I wrote abut the haplotree here.

Mitochondrial DNA haplotree.png

You can see your haplogroup in pedigree format as it descends from its main branch, in my case, J. To the right, the countries where J1c2f is found. The mitochondrial haplotree is important because it’s not limited to people who match you, or to people who join projects.

  • Haplogroup Country Report – The Haplogroup Country Report breaks down the information behind the little flags on the haplotree, above.

Mitochondrial DNA country report.png

41.67% of the people in haplogroup J1c2f have ancestors found in Sweden. I was quite surprised, given that my earliest known ancestor is found in Germany.

  • Your Other Lines – You may be lucky enough to discover that someone who descends from one of your other lines whose mitochondrial DNA you don’t carry has tested. For example, if your father or one of his siblings tests and shares their results with you, you would be “gifted” with mitochondrial information of your paternal grandmother.

If everyone were to test, just think how much information would be available for genealogists to share. How many of your lines would benefit? Can you find testers for some of them?

What About You?

How much of this information could you discover without mitochondrial DNA testing?

None.

As a genealogist, you want to know every single thing you can unearth about each ancestor, right?

Mitochondrial testing holds a world of treasure that’s easily available to everyone.

You might notice that Family Tree DNA offers two tests, the mtDNA Plus and the mtFull Sequence.

Which Test?

The mtDNA Plus test only reads two regions (HVR1/HVR2) of the mitochondria, about 2000 locations out of 16,569 total. You do receive a base haplogroup and matching along with the other tools described above. However, without the full sequence test, your matches may be thousands of years in the past. I think of the mtDNA Plus test as the beginners test.

To use mtDNA successfully for genealogy and to receive the most granular information possible, you need the full sequence test which tests the full mitochondria. This is the test for serious genealogists.

The great news is that if you’ve already taken the HVR1/HVR2 mtDNA Plus test, you can easily upgrade to mtFull Sequence by signing on to your personal page and clicking upgrade.

The full sequence mitochondrial DNA test is on sale right now for $149, a $50 savings, through April 25th for DNA Day.

Discover the secrets in your mitochondrial DNA!

Click here to order.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

DNA Day Sale at Family Tree DNA

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Family-Tree-DNA logo

Every year we look forward to Family Tree DNA’s DNA Day sale which starts today and ends April 25th.

This year, virtually everything is on sale – single tests, bundles of different tests, upgrades and even SNP packs for Y DNA testers.

For those who need a primer on the different kinds of tests, the article 4 Kinds of DNA for Genetic Genealogy is a quick read.

DNA Day 2019 single tests

Bundles are great values.

DNA Day 2019 bundles.png

If you’ve already taken a Y DNA test, now’s the time to upgrade!

DNA Day 2019 upgrades.png

I wrote about the Big Y-500 to Big Y-700 upgrade and what to expect here.

Know what you want already?

Click here to order!

If you’re a new customer, purchase from the main page.

If you already have an account, sign in and click on “Add Ons and Upgrades” at the top right above the banner on your personal page.

DNA Day 2019 upgrade button.png

Even SNP Packs for Advanced Y Testers are on Sale

Please note that if you have taken or upgrade to the Big Y test, you don’t need to purchase a SNP pack.

SNP packs are an upgrade for those men who have already tested Y DNA STR panels 12, 25, 37, 67 or 111 who seek to verify haplogroup branches on the Y tree without taking the Big Y test. The good news is that SNP packs are less expensive than the Big Y. The bad news is that SNP packs test only a fraction of the available SNPs and they make no new discoveries. If you’re uncertain about what to purchase, I would recommend talking to your surname or haplogroup administrator about your goals for testing.

My personal preference is for the Big Y-700 because of the advanced testing capabilities, the additional STR markers, additional matches and the fact that discoveries can be made with the Big Y test. In other words, new SNPs, meaning potential new haplogroups can be discovered with the Big Y, while SNP packs test existing SNPs to place a person further down on the tree.

If you’re interested in SNP packs, they are almost never on sale, but they are now.

DNA Day 2019 SNP pack.png

If you want to order a SNP pack, click here to sign on to your account, then click on the blue upgrade button beside your Y DNA results.

DNA Day 2019 Y upgrade button.png

Next, you’ll see several selections, so click on “Buy Now” under Advanced Tests.

DNA Day 2019 advanced test.png

Next, select SNP Pack.

DNA Day 2019 SNP pack select.png

Then choose the appropriate SNP pack for your haplogroup and testing goals.

No matter which tests you select, you’ll be enjoying the results and new matches soon!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

DNA Testing and Transfers – What’s Your Strategy?

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The landscape of genetic genealogy is forever morphing.

I’m providing a quick update as to which vendors support file transfers from which other vendors in a handy matrix.

Come join in the fun!

Testing and Transfer Strategy

Using the following chart, you can easily plan a testing and transfer strategy.

Transfers Dec 2019

Click image to enlarge

  1. After May 2016, V2, if no speculative matches, reupload or retest
  2. Dec. 2010 – Dec. 2013 V3 fully compatible, Dec. 2013 – Aug. 2017 V4 reupload or retest, Aug. 2017 and later V5 compatible
  3. GedMatch has been working to resolve matching issues between vendors’ chips, autosomal only, no Y or mitochondrial
  4. LivingDNA does not have functional matching, has recently changed chip vendors, transfers do not receive ethnicity or ancestry results
  5. Customer must extract file before can upload (changing soon to be auto-extract)
  6. Files must be in build 37 format
  7. Autosomal transfers are free, but payment for advanced tools is required at most vendors
  8. If tested at MyHeritage after May 7, 2019 AND transfer your MyHeritage file within 2 yeras of receiving your results.

Recommendations

My recommendations are as follows, and why:

Transfer Costs

Autosomal transfers and matching are free at the vendors who accept transfers, but payment for advanced tools is required.

  • Family Tree DNA – $19 one-time unlock fee for advanced tools
  • MyHeritage – $29 one-time fee for advanced tools or a subscription, which you can try for free, here
  • GedMatch – many tools free, but for Tier 1 advanced tools, $10 per month

All great values!

Please note that as vendors change testing chips and file formats, other vendors who accept transfers will need time to adapt. I know it’s frustrating sometimes, but it’s a sign that technology is moving forward. The good news is that after the wait, if there is one, you’ll have a brand new group of genealogy matches – many holding clues for you to decipher.

I’m in all of the databases, so see you there.

-Updated December 10, 2019

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Full or Half Siblings?

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Many people are receiving unexpected sibling matches. Everyday on social media, “surprises” are being reported so often that they are no longer surprising – unless of course you’re the people directly involved and then it’s very personal, life-altering and you’re in shock. Staring at a computer screen in stunned disbelief.

Conversely, sometimes that surprise involves people we already know, love and believe to be full siblings – but autosomal DNA testing casts doubt.

If your sibling doesn’t match at all, download your DNA files and upload to another company to verify. This step can be done quickly.

Often people will retest, from scratch, with another company just for the peace of mind of confirming that a sample didn’t get swapped. If a sample was swapped, then another unknown person will match you at the sibling level, because they would be the one with your sibling’s kit. It’s extremely rare, but it has happened.

If the two siblings aren’t biologically related at all, we need to consider that one or both might have been adopted, but if the siblings do match but are predicted as half siblings, the cold fingers of panic wrap themselves around your heart because the ramifications are immediately obvious.

Your full sibling might not be your full sibling. But how can you tell? For sure? Especially when minutes seem like an eternity and your thoughts are riveted on finding the answer.

This article focuses on two tools to resolve the question of half versus full siblingship, plus a third safeguard.

Half Siblings Versus Step-Siblings

For purposes of clarification, a half sibling is a sibling you share only one parent with, while a step-sibling is your step-parent’s child from a relationship with someone other than your parent. Your step-parent marries your parent but is not your parent. You are not genetically related to your step-siblings unless your parent is related to your step-parent.

Parental Testing

Ideally two people who would like to know if they are full or half siblings would have both parents, or both “assumed” parents to compare their results with. However, life is seldom ideal and parents aren’t always available. Not to mention that parents in a situation where there was some doubt might be reluctant to test.

Furthermore, you may elect NOT to have your parents test if your test with your sibling casts doubt on the biological connections within your family. Think long and hard before exposing family secrets that may devastate people and potentially destroy existing relationships. However, this article is about the science of confirming full versus half siblings, not the ethics of what to do with that information. Let your conscience be your guide, because there is no “undo” button.

Ranges Aren’t Perfect

The good news is that autosomal DNA testing gives us the ability to tell full from half-siblings by comparing the siblings to each other, without any parent’s involvement.

Before we have this discussion, let me be very clear that we are NOT talking about using these tools to attempt to discern a relationship between two more distant unknown people. This is only for people who know, or think they know or suspect themselves to be either full or half siblings.

Why?

Because the ranges of the amount of DNA found in people sharing close family relationships varies and can overlap. In other words, different degrees of relationships can be expected to share the same amounts of DNA. Furthermore, except for parents with whom you share exactly 50% of your autosomal DNA (except males don’t share their father’s X chromosome), there is no hard and fast amount of DNA that you share with any relative. It varies and sometimes rather dramatically.

The first few lines of this Relationship Chart, from the 2016 article Concepts – Relationship Predictions, shows both first and second degree relationships (far right column).

Sibling shared cM chart 2016.png

You can see that first degree relations can be parent/child, or full siblings. Second degree relationships can be half siblings, grandparents, aunt/uncle or niece/nephew.

Today’s article is not about how to discern an unknown relation with someone, but how to determine ONLY if two people are half or full siblings to each other. In other words, we’re only trying to discern between rows two and three, above.

As more data was submitted to Blaine Bettinger’s Shared cM Project, the ranges changed as we continued to learn. Blaine’s 2017 results were combined into a useful visual tool at DNAPainter, showing various relationships.

Sibling shared cM DNAPainter.png

Note that in the 2017 version of the Shared cM Project, the high end of the half sibling range of 2312 overlaps with the low end of the full sibling range of 2209 – and that’s before we consider that the people involved might actually be statistical outliers. Outliers, by their very definition are rare, but they do occur. I have seen them, but not often. Blaine wrote about outliers here and here.

Full or Half Siblings?

So, how to we tell the difference, genetically, between full and half siblings?

There are two parts to this equation, plus an optional third safeguard:

  1. Total number of shared cM (centiMorgans)
  2. Fully Identical Regions (FIR) versus Half Identical Regions (HIR)

You can generally get a good idea just from the first part of the equation, but if there is any question, I prefer to download the results to GedMatch so I can confirm using the second part of the equation too.

The answer to this question is NOT something you want to be wrong about.

Total Number of Shared cM

Each child inherits half of each parent’s DNA, but not the same half. Therefore, full siblings will share approximately 50% of the same DNA, and half siblings will share approximately 25% when compared to each other.

You can see the differences on these charts where percentages are converted into cM (centiMorgans) and on the 2017 combined chart here.

I’ve summarized full and half siblings’ shared cMs of DNA from the 2017 chart, below.

Relationship Average Shared cM Range of Shared cM
Half Siblings 1,783 1,317 – 2,312
Full Siblings 2,629 2,209 – 3,394

Fully Identical and Half Identical Regions

Part of the DNA that full siblings inherit will be the exact same DNA from Mom and Dad, meaning that the siblings will match at the same location on their DNA on both Mom’s strand of DNA and Dad’s strand of DNA. These sections are called Fully Identical Regions, or FIR.

Half siblings won’t fully match, except for very small slivers where the nucleotides just happen to be the same (identical by chance) and that will only be for very short segments.

Half siblings will match each other, but only one parent’s side, called Half Identical Regions or HIR.

Roughly, we expect to see about 25% of the DNA of full siblings be fully identical, which means roughly half of their shared DNA is inherited identically from both parents.

Understanding the Concept of Half Identical Versus Fully Identical

To help understand this concept, every person has two strands of DNA, one from each parent. Think of two sides of a street but with the same addresses on both sides. A segment can “live” from 100-150 Main Street, er, I mean chromosome 1 – but you can’t tell just from the address if it’s on Mom’s side of the street or Dad’s.

However, when you match other people, you’ll be able to differentiate which side is which based on family members from that line and who you match in common with your sibling. This an example of why it’s so important to have close family members test.

Any one segment on either strand being compared between between full siblings can:

  • Not match at all, meaning the siblings inherited different DNA from both parents at this location
  • Match on one strand but not the other, meaning the siblings inherited the same DNA from one parent, but different DNA from the other. (Half identical.)
  • Match identically on both, meaning the siblings inherited exactly the same DNA in that location from both parents. (Fully identical.)

I created this chart to show this concept visually, reflecting the random “heads and tails” combination of DNA segments by comparing 4 sets of full siblings with one another.

Sibling full vs half 8 siblings arrows

This chart illustrates the concept of matching where siblings share:

  • No DNA on this segment (red arrow for child 1 and 2, for example)
  • Half identical regions (HIR) where siblings share the DNA from one parent OR the other (green arrow for child 1 and 2, for example, where the siblings share brown from mother)
  • Fully identical regions (FIR) where they share the same segment from BOTH parents so their DNA matches exactly on both strands (black boxed regions)

If a region isn’t either half or fully identical, it means the siblings don’t match on that piece of DNA at all. That’s to be expected in roughly 50% of the time for full siblings, and 75% of the time for half siblings. That’s no problem, unless the siblings don’t match at all, and that’s entirely different, of course.

Let’s look at how the various vendors address half versus full siblings and what tools we have to determine which is which.

Ancestry

Ancestry predicts a relationship range and provides the amount of shared DNA, but offers no tools for customers to differentiate between half versus full siblings. Ancestry has no chromosome browser to facilitate viewing DNA matches but shared matches can sometimes be useful, especially if other close family members have tested.

Sibling Ancestry.png

Update 4-4-2019 – I was contacted by a colleague who works for an Ancestry company, who provided this information: Ancestry is using “Close Family” to designate avuncular, grandparent/grandchild and half-sibling relationships. If you see “Immediate Family “the relationship is a full sibling.

Customers are not able to view the results for ourselves, but according to my colleague, Ancestry is using FIRs and HIRs behind the scenes to make this designation. The Ancestry Matching White Paper is here, dating from 2016.

If Ancestry changes their current labeling in the future, this may not longer be exactly accurate. Hopefully new labeling would provide more clarity. The good news is that you can verify for yourself at GedMatch.

A big thank you to my colleague!

MyHeritage

MyHeritage provides estimated relationships, a chromosome browser and the amount of shared DNA along with triangulation but no specific tool to determine whether another tester is a full or half sibling. One clue can be if one of the siblings has a proven second cousin or closer match that is absent for the other sibling, meaning the siblings and the second cousin (or closer) do not all match with each other.

Sibling MyHeritage.png

Family Tree DNA

At Family Tree DNA, you can see the amount of shared DNA. They also they predict a relationship range, include a chromosome browser, in common matching and family phasing, also called bucketing which sorts your matches into maternal and paternal sides. They offer additional Y DNA testing which can be extremely useful for males.

Sibling FamilyTreeDNA.png

If the two siblings in question are male, a Y DNA test will shed light on the question of whether or not they share the same father (unless the two fathers are half brothers or otherwise closely related on the direct paternal line).

Sibling advanced matches.png

FamilyTreeDNA provides Advanced Matching tools that facilitate combined matching between Y and autosomal DNA.

Sibling bucketing both.png

FamilyTreeDNA’s Family Finder maternal/paternal bucketing tool is helpful because full siblings should be assigned to “both” parents, shown in purple, not just one parent, assuming any third cousins or closer have tested on both sides, or at least on the side in question.

As you can see, on the test above, the tester matches her sister at a level that could be either a high half sibling match, or a low full sibling match. In this case, it’s a full sibling, not only because both parents tested and she matched, but because even before her parents tested, she was already bucketed to both sides based on cousins who had tested on both the maternal and paternal sides of the family.

GedMatch

GedMatch, an upload site, shows the amount of shared DNA as well. Select the One-to-One matching and the “Graph and Position” option, letting the rest of the settings default.

Sibling GedMatch menu.png

GedMatch doesn’t provide predicted relationship ranges as such, but instead estimates the number of generations to the most recent common ancestor – in this case, the parents.

Sibling GedMatch total.png

However, GedMatch does offer an important feature through their chromosome browser that shows fully identical regions.

To illustrate, first, I’m showing two kits below that are known to be full siblings.

The green areas are FIR or Fully Identical Regions which are easy to spot because of the bright green coloring. Yellow indicate half identical matching regions and red means there is no match.

Sibling GedMatch legend.png

Please note that this legend varies slightly between the legacy GedMatch and GedMatch Genesis, but yellow, green, purple and red thankfully remain the same. The blue base indicates an entire region that matches, while the grey indicates an entire region not considered a match..

Sibling GedMatch FIR.png

Fully identical green regions (FIR) above are easy to differentiate when compared with half siblings who share only half identical regions (HIR).

The second example, below, shows two half-siblings that share one parent.

Sibling GedMatch HIR.png

As you can see, there are slivers of green where the nucleotides that both parents contributed to the respective children just happen to be the same for a very short distance on each chromosome. Compared to the full sibling chart, the green looks very different.

The half-sibling small green segments are fully identical by chance or by population, but not identical by descent which would mean the segments are identical because the individuals share both parents. These two people don’t share both parents.

The fully identical regions for full siblings are much more pronounced, in addition to full siblings generally sharing more total DNA.

GedMatch is the easiest and most useful site to work with for determining half versus full siblings by comparing HIR/FIR. I wrote instructions for downloading your DNA from each of the testing vendors at the links below:

Twins

Fraternal twins are the same as regular siblings. They share the same space for 9 months but are genetically siblings. Identical twins, on the other hand, are nearly impossible to tell apart genetically, and for all intents and purposes cannot be distinguished in this type of testing.

Sibling GedMatch identical twin.png

Here’s the same chart for identical twins.

23andMe

23andMe also provides relationship estimates, along with the amount of shared DNA, a chromosome browser that includes triangulation (although they don’t call it that) and a tool to identify full versus half identical regions. 23andMe does not support trees, a critical tool for genealogists.

Unfortunately, 23andMe has become the “last” company that people use for genealogy. Most of their testers seem to be seeking health information today.

If you just happen to have already tested at 23andMe with your siblings, great, because you can use these tools. If you have not tested at 23andMe, simply upload your results from any vendor to GedMatch.

At 23andMe, under the Ancestry, then DNA Relatives tabs, click on your sibling’s match to view genetic information, assuming you both have opted into matching. If you don’t match your sibling, PLEASE be sure you BOTH have completely opted in for matching. I can’t tell you how many panic stricken siblings I’ve coached who weren’t both opted in to matching. If you’re experiencing difficulty, don’t panic. Simply download both people’s files to GedMatch for an easier comparison. You can find 23andMe download instructions here.

Sibling 23andMe HIR.png

Scrolling down, you can see the options for both half and completely identical segments on your chromosomes as compared to your match. Above,  my child matches me completely on half identical regions. This makes perfect sense, of course, because my father and my child’s father are not the same person and are not related.

Conversely, this next match is my identical twin whom I match completely identically on all segments.

Sibling 23andMe FIR.png

Confession – I don’t have an identical twin. This is actually my V3 test compared with my V4 test, but these two tests are in essence identical twin tests.

Unusual Circumstances

The combination of these two tools, DNA matching and half versus fully identical regions generally provides a relatively conclusive answer as to whether two individuals are half or full siblings. Note the words generally and relatively.

There are circumstances that aren’t as clear cut, such as when the father of the second child is a brother or other close relative of the first child’s father – assuming that both children share the same mother. These people are sometimes called three quarters siblings or niblings.

In other situations, the parents are related, sometimes closely, complicating the genetics.

These cases tend to be quite messy and should be unraveled with the help of a professional. I recommend www.dnaadoption.com (free unknown parent search specialists) or Legacy Tree Genealogists (professional genealogists.)

The Final SafeGuard – Just in Case

A third check, should any doubt remain about full versus half siblings, would be to find a relative that is a second cousin or closer on the presumed mother’s side and one on the presumed father’s side, and compare autosomal results of both relatives to both siblings.

There has never been a documented case of second cousins or closer NOT matching each other. I’m unclear about second cousins once removed, or half second cousins, but about 10% of third cousins don’t match. To date, second cousins (or closer) who didn’t match, didn’t match because they weren’t really biological second cousins.

If the two children are full siblings meaning the biological children of both the presumed parents, both siblings will match the 2nd cousin or closer on the mother’s side AND the 2nd cousin or closer on the father’s side as well. If they are not full siblings, one will match only on the second cousin on the common parent’s side.

You can see in the example below that Child 1 and Child 2, full siblings, match both Hezekiah (green), a second cousin from the father’s side, as well as Susan (pink), a second cousin from the mother’s side.

Sibling both sides matching.png

If one of the two children only matches one cousin, and not the other, then the person who doesn’t match the cousin from the father’s side, for example, is not related to the father – although depending on the distance of the relationship, I would seek an additional cousin to test through a different child – just in case.

You can see in the example below that Child 2 matches both Hezekiah (green) and Susan (pink), but Child 1 only matches Susan (pink), from the mother’s side, meaning that Child 1 does not descend from John, so isn’t the child of the Presumed Father (green).
Sibling both sides not matching.png

If neither child matches Hezekiah, that’s a different story. You need to consider the possibility of one of the following:

  • Neither child is the child of the Presumed Father, and could potentially be fathered by different men
  • A break occurred in the genetic line someplace between John and Hezekiah or between John and the Presumed Father.

In other words, the only way this safeguard works as a final check is if at least ONE of the children matches both presumed parents’ lines with a second cousin or closer.

And yes, these types of “biological lineage disruptions” do occur and much more frequently that first believed.

In the End

You may not need this safeguard check when the first and second methodologies, separately or together, are relatively conclusive. Sometimes these decisions about half versus full siblings incorporate non-genetic situational information, but be careful about tainting your scientific information with confirmation bias – meaning unintentionally skewing the information to produce the result that you might desperately want.

When I’m working with a question as emotionally loaded as trying to determine whether people are half or full siblings, I want every extra check and safeguard available – and you will too. I utilize every tool at my disposal so that I don’t inadvertently draw the wrong conclusion.

I want to make sure I’ve looked under every possible rock for evidence. I try to disprove as much as I try to prove. The question of full versus half siblingship is one of the most common topics of the Quick Consults that I offer. Even when people think they know the answer, it’s not uncommon to ask an expert to take a look to confirm. It’s a very emotional topic and sometimes we are just too close to the subject to be rational and objective.

Regardless of the genetic outcome, I hope that you’ll remember that your siblings are your siblings, your parents are your parents (genetic or otherwise) and love is love – regardless of biology. Please don’t lose the compassionate, human aspect of genealogy in the fervor of the hunt.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

 

Family Tree DNA Sale Prices Including Big Y-700 Upgrade

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I was attempting to finish an article about the Family Tree DNA conference this past weekend and include special conference sale price information, but it looks like that article just isn’t going to happen right now.

Typically, the conference is held in November, so the Holiday Sale begins the last day of the conference. That’s not the case this year, so Bennett announced a special sale just for conference attendees, project members, and through me, you too! Read on, because these sale prices are NOT available to the general public although you can certainly share with your families.

Thank you Bennett!!!

The good news is that while I realize I just can’t get that article written right now, I’m providing the sale price information which is only valid through month end. These are really good prices.

  • $30 off Family Finder ($49) – Use Code: GGC19FF
  • $50 off Y-37 ($119) – Use Code: GGC19Y37
  • $70 off Y-67 ($198) – Use Code: GGC19Y67
  • $70 off Y-111 ($289) – Use Code: GGC19Y111
  • $200 off Big Y-700 meaning have never taken any Y DNA test ($449) – Use Code: GGC19BIGY
  • $50 off MtFull Sequence ($149) – Use Code: GGC19MTFULL

If you have taken one of the Y DNA STR tests, have never taken the Big Y-500 but want to upgrade from an existing 12, 25, 37, 67 or 111 marker STR test to the Big Y-700, here are the upgrade codes:

Upgrade Regular Price Final Price Code
Y12 to Big Y-700 $629 $449 GCC19122BY
Y25 to Big Y-700 $599 $449 GCC19252BY
Y37 to Big Y-700 $569 $449 GCC19372BY
Y67 to Big Y-700 $499 $399 GCC19BYUP
Y111 to Big Y-700 $449 $349 GCC19BYUP

All coupons codes expire March 31, 2019 and may not be used in conjunction with other promocodes, discounts, or offers.

Big Y-700 Upgrade – $179

The greatly anticipated Big Y-700 upgrade is now available.

In addition to the above sale prices for purchases, Bennett is offering the introductory upgrade price to move from the Y-500 to the Y-700 at just $179 through the end of the month. I was actually very surprised to see the price this low since it’s an actual rerun.

Family Tree DNA reviews each order to assure that enough DNA remains for the test. If not, they will reach out to you before processing begins to request another vial. If the tester is deceased, meaning they can’t provide an additional sample, please notify Family Tree DNA so that they can flag the sample for special handling in the lab, if necessary.

I wrote about the Big Y-700 here. If you want to read the scientific nitty-gritty, the Big Y-700 white paper is here. The white paper refers to the Big Y and compared to the Big Y-700. The Big Y is the same test as the Big Y-500, the difference being that Family Tree DNA added the additional STR markers for free (totaling 500) for all testers who had taken the Big Y and renamed the test at that time to Big Y-500.

To recap the benefits of a Big Y-700 as compared to the Big Y-500:

  • Big Y-700 provides 50% increase in quality SNPs over Big Y-500
  • Provides quality reads of Y chromosome regions not previously available
  • An additional 200 STR markers bringing the total from at least 500 to at least 700
  • Better coverage meaning fewer no-reads

Note that with the improved sequencing technology, it’s possible that men run on the Big Y-700 platform may not exactly match men run on the earlier Big Y-500 platform. If you’re working with a group of men who you “need” to be on the exact same platform in order to derive family lineages, then you’ll want all of the men on the same platform so you are comparing apples to apples. In the case of the Estes project, I’m hoping that the new technology will further divide my roughly 10 Big-Y men into distinct lineages in order to provide increased granularity.

I know that the price will increase after month-end and I don’t want anyone left behind. With my luck, the man I don’t upgrade will of course be the one with a newly-to-be-discovered mutation that I need.

If you are interested in upgrading from an existing Big Y-500 to a Big Y-700, there is no code needed. Click here to sign in to your account and then click on the upgrade button on your Y-DNA section of your personal page.

Y DNA Upgrade

You’ll then see the Big Y-700 upgrade, but only at this price for a few more days.

Big Y-700 upgrade

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research