Concepts – CentiMorgans, SNPs and Pickin’ Crab

In autosomal DNA testing, you’ll see the terms centiMorgans, represented as cM and SNPs, which stands for single nucleotide polymorphism, combined.

These are two terms that are used to discuss thresholds and measurements of matching amounts of autosomal DNA segments.

These two terms, relative to autosomal DNA, are two parts of a whole, kind of like the left and right hand.

CentiMorgans are units of recombination used to measure genetic distance. You can read a scientific definition here.

For our conceptual purposes, think of centiMorgans as lines on a football field. They represent distance.

football fabric 2

SNPs are locations that are compared to each other to see if mutations have occurred.  Think of them as addresses on a street where an expected value occurs. If values at that address are different, then they don’t match.  If they are the same, then they do match.  For autosomal DNA matching, we look for long runs of SNPs to match between two people to confirm a common ancestor.

Think of SNPs as blades of grass growing between the lines on the football field.  In some areas, especially in my yard, there will be many fewer blades of grass between those lines than there would be on either a well maintained football field, or maybe a manicured golf course.  You can think of the lighter green bands as sparse growth and darker green bands as dense growth.

If the distance between 2 marks on the football field is 5cM and there are 550 blades of grass growing there, you’ll be a match to another person if all of your blades of grass between those 2 lines match if the match threshold was 5cM and 500 SNPs.

So, for purposes of autosomal DNA, the combination of distance, centiMorgans, and the number of SNPs within that distance measurement determines if someone is considered a match to you. In other words, if the match is over the threshold as compared to your DNA, meaning the match is deemed to be relevant by the party setting the threshold.  Think of track and field hurdles.  To get to the end (match), you have to get over all of the hurdles!

hurdles

By Ragnar Singsaas – Exxon Mobil ÅF Golden League Bislett Games 2008, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=5288962

For example, a threshold of 7 cM and 700 SNPs means that anyone who matches you OVER BOTH of these thresholds will be displayed as a match.  So centiMorgans and SNPs work together to assure valid matches.

Thresholds

These two numbers, cMs and SNPs, are used in conjunction with each other. Why?  Because the distribution of SNPs within cM boundaries is not uniform.  Some areas of the human genome have concentrations of SNPs and some areas are known as “SNP deserts.”  So distance alone is not the only relevant factor.  How many blades of grass growing between the lines matters.

Each of the vendors selects a default threshold that they feel will give you the best mix of not too many false positives, meaning matches that are identical by chance, and not too many false negatives, meaning people who do actually match you genealogically that are eliminated by small amounts of matching DNA. Unfortunately, there is no line in the sand, so no matter where the vendor sets that threshold, you’re probably going to miss something in either or both directions.  It’s the nature of the beast.

Company Min cMs Min SNPs Comment
Family Tree DNA 7cM for any one segment + 20cM total 500 After the initial match, you can view down to 1cM and 500 SNPs to people you match
23andMe 7cM 700
Ancestry 5cM after Timber and associated phasing routines Unknown Timber population based phasing removes matches they determine to be “too matchy” or population based
GedMatch User selectable – default is 7 User selectable – default is 700

As you might guess, there many opinions about the optimum threshold combinations to use – just about as many opinions as people!

These are important values, because the combined size of those matches to an individual allows you to roughly estimate the relationship range to the person you match.

As a general rule, the vendors do a relatively good job, with some exceptions that I’ve covered elsewhere and amount to beating a dead horse (Ancestry’s Timber, no chromosome browser). Of course, one of the big draws of GedMatch is that you can set your own cM and SNP matching thresholds.

Having said that, if you come from an endogamous population, you may want to raise your threshold to 10cM or even higher, depending on what you’re trying to accomplish

Effectively Using cMs and SNPs

Your personal goals have a lot to do with the thresholds you’ll want to select.

If you are new at genetic genealogy, you will first want to pursue your best matches, meaning the highest number of matching centiMorgans/SNPs, because they will be the low hanging fruit and the easiest matches to connect genealogically. Said another way, you’ll match your closer relatives on bigger chunks of DNA, so concentrate on those first.  Successes are encouraging and rewarding!

Your match to a second cousin, for example, will have a significant amount of shared DNA and second cousins share common great-grandparents – 2 of 8 people in that generation on your tree – so relatively easy to identity – as these things go.

The chart below shows the expected percentage of shared DNA in a given match pair, in this case, first and second cousins with a first cousin once removed thrown in for good measure. Also shown is the expected amount of shared centiMorgans for the given relationship, the average amount of shared DNA from a crowd sourced project titled The Shared cM Project by Blaine Bettinger and the range of shared DNA found in that same project.

A pedigree chart of my family members fitting those categories is shown below, plus the actual amount of shared cMs of DNA to the right.

shared cM table

The chart below shows my DNA matches to my first cousin once removed, Cheryl.

Since we do match at Family Tree DNA above the match threshold, I can view all of my matching segments to Cheryl down to 1cM and 500 SNPs.

Cheryl chart

Just as a matter of interest, I’ve color coded the cM segments:

  • >10 cM = green
  • 7-10 cM = yellow
  • <7 = red

This means that if these were the largest matching segments, you would or would not be able to see them at the various thresholds of 7 and 10 cM.

If the matching threshold is at the default of 7cM, the green and yellow segments would be displayed.

If the matching threshold was set at 10, only the green cM segments are going to be shown.

At Family Tree DNA, you can select various threshold display options when using the chromosome browser tool, but not for initial matching. In other words, you have to match at their default threshold before you can see your smaller segments or alter your threshold display.

Some people want to see all of their DNA that matches, and some only want to see the large and compelling pieces, those green segments.  Neither choice is wrong, simply a matter of personal preference and individual goals.

The “large and compelling” part of that statement brings me back to why you’re participating in genetic genealogy in the first place, those individual goals.  The larger segments are going to lead to common ancestors who are generally easier to find and identify, unless you have an unidentified parent or a misattributed parental event.

You would never start with smaller segments in terms of matching, but that does not mean those smaller segments are never useful.  In fact, after you’ve managed to analyze all of your low hanging fruit, and you’re ready to research or concentrate on those ugly brick walls, groupings of those smaller segments in descendants may just be your lifesaver.

Surviving Phasing

However, now I’m curious. How many of those smaller segments do stand up to the test of parental phasing, meaning they match both me and my parent?  If my match (Cheryl) matches both me and my parent, then Cheryl does not match me by chance on that segment so the match is genealogical in nature, the matching DNA proven to have descended to me from my mother.

Let’s see.

Cheryl Mom me chart

In order to phase my results with Cheryl against my mother, I copied Mother’s results into the same spreadsheet, above, color coding our rows so you can see them easier. “Cheryl matching Mom” rows are apricot and “Cheryl matching me” rows are yellow.

You can see that in some cases, like the first two rows, the two rows are identical which means I inherited all of Mom’s DNA in that segment and Cheryl inherited the same segment from her father, matching both Mom and me.

In other cases, I inherited part of Mom’s DNA on a particular segment.  I could also have inherited none of a particular segment.

In fact, of the 27 segments where I match Mom on any part of the segment, I match her on the entire segment 18 times, or 66.6% and on part of the segment 9 times, or 33.3%.

I left the color coding in the cM column the same as it was before, in my rows, to indicate small, medium and large segments. The small segments are red, which would be the most likely NOT to phase with my mother, in other words, the most likely to be Identical by Chance, not descent.  If Cheryl and I are Identical by Chance on these segments, it means that the reason I’m matching Cheryl is NOT because I inherited that chunk of DNA from mother. If Mom and I both match Cheryl, they Cheryl and I are Identical by Desent, meaning I inherited that piece of DNA from my mother, so the match is not because Cheryl’s DNA is randomly matching that of both of my parents.

In the spreadsheet below, I removed mother’s rows to eliminate clutter, but I color coded mine. The rows that show red in the CHR and SNP columns BOTH are rows that did NOT phase with my mother, meaning these matches were indeed identical to Cheryl by chance.  The rows that are red ONLY in the cM column (and not in the CHR column) are small segments that DID phase with my mother, so those are identical by descent (IBD).

Cheryl Me phased chart

Here’s the interesting part.

  • All of the large segments, 10cM and over passed phasing. They are legitimate IBD matches.
  • One of 2 of the medium cM matches passed phasing.
  • Of the 15 smaller segments, ranging in size from 1.38 cM to 6.14 cM, more than half, 8, passed phasing. Seven did not. The smallest segment to pass phasing was 1.38 cM. I suspect that part of the reason that the smaller cM segments are passing phasing is that the SNP threshold is held steady at 500 SNPs. In another (unpublished) study, dropping the SNP threshold below 500 results in a dramatic increase in matches (roughly fourfold) and a very small percentage of those matches phase with parents.

Small Segments Guidelines

There has been a lot of spirited debate about the usage, or not, of small segments, so I’m going to provide some guidelines.  Let me preface this by saying that none of this is worth getting your knickers in a knot, so please don’t.  If you don’t want to include or utilize small segments, then just don’t.

  • What is and is not a small segment can vary depending on who you are talking to and the context of the conversation.
  • Small segments CAN and do survive parental phasing, as shown above.
  • Small segments CAN be triangulated to a particular ancestor. Triangulated in this sense means that this segment is found in the descendants of a group of people (3 or more) proven to descend from the same ancestor AND who all match each other on the same segment.
  • Not all small segments can be triangulated to a common ancestor.  But then again, the same can be said for larger segments too.  It’s more difficult and unlikely to be successful with smaller segments unless you are starting with a group of people who descend from a common ancestor and are looking for “ancestral DNA.”
  • Small segments, even after triangulation, can be found matching a different lineage. This is an indicator that while the descendants of the first group share this DNA segment from a specific ancestor, it may also be prevalent in a population in general, which would cause the same segment to show up matching in a second lineage from the same region as well. I have an example where my Acadian line also matches a different German line on a particular segment – which really isn’t surprising given the geography and history of Germany and France..
  • Small segments without the benefit of other tools such as parental phasing, triangulation and match groups are, at this time, a waste of time genealogically. This may not always be the case.
  • Never start with small segments.
  • Never draw conclusions from small segments alone, meaning without corroborating evidence.
  • Use small segments only in context of a combination of parental phasing, triangulation and match groups.
  • Just because you match a group of people, out of context, on a segment (small or otherwise) doesn’t mean that you share a common ancestor. The smaller the segment, the more likely it is to be either IBC or IBP. Situations where the DNA is exactly the same from both parents, meaning everyone has all As in that location, for example, are called runs of homozygosity and the smaller the segment, the more likely you are to encounter ROH segments which appear as phased matches.  Yes, another cruel joke of nature.

As a proof point relative to how deceptive small segment matching out of context can be, I ran my kit against my friend who is unquestionably 100% Jewish. I have no Jewish ancestry.  At 7cM/700 SNPs we have no matches, at 3cM/300SNPs we have 7 matching segments.

Me to Jewish match

However, matching this individual to my phased parents, none of these segments match both me and either one of my phased parent. Phased parent kits, at GedMatch are kits reflecting the half of my parents DNA I received from that parent.  If you have one or both parents who have tested, you can create phased kits with instructions from this article.

Lowering the match threshold even further to 100 SNPs and 1cM, my Jewish friend and I match on a whopping 714 tiny matching segments, over 1100 cM total, but all very small pieces of DNA. Because of the absolute known 100% Jewish heritage of my friend, and my known non-Jewish heritage, these matches must be either IBC, identical by chance or perhaps some small segments of IBP, identical by population from a very long time ago when both of our ancestors lived in the Middle East, meaning thousands of years ago.  Bottom line, they are not genealogically relevant to either of us.  I repeated this same experiment with someone that is 100% Asian, with the same type of results.  You will match everyone at this threshold, including ancient DNA matches tens of thousands of years old.

The message here is that you can work from the “top down” with small segments, meaning in a known relationship situation like with my cousin and other relatives, but you cannot work from the bottom up with small segments as you have no way to differentiate the wheat from the chaff.

In the Crumley study, there are groups of small segments (greater than 3cM/300SNPs) that persist in multiple descendants of James Crumley born in 1712.  In this case, because you can separate the wheat from the chaff with more than 50 participants, others who triangulate with those small segments and match the group of Crumley descendants may well share a common ancestor at some point in time, especially if they can phase with their parents on those segments to prove the match is not IBC.

  • Remember, your match on any segment to one person can be IBD meaning you have identified the common ancestor, your match to another person on that same segment IBC, and yet to a third person, IBP where your match survives generational phasing, but you may never find the common ancestor due to the age of the segment or endogamy.
  • When utilizing small segments, I generally don’t drop the SNP threshold below 500, as the number of matches increases exponentially and the valid matches decrease proportionately as well. I’ll be publishing more on this shortly.
  • I do fully believe, within this set of cautionary criteria, that small segments can be useful. I also believe that small segments can be very easily misinterpreted. The use of matching segments has a lot to do with combining different pieces of evidence to build confidence in what the “match” is telling you. I wrote about the Autosomal DNA Matching Confidence Spectrum here.
  • Small segments should only be utilized after one has a good grasp of how genetic genealogy works and by utilizing the tools available to restrict those segments to genealogically descended DNA. In other words, small segments are for the advanced user. However, maintain those small segment groupings and triangulations in your spreadsheet, because when you have the level of experience needed to work with those small segments, they’ll be available for you to work with.  You may discover that most of your DNA triangulates by using large segments and you don’t need to utilize those small segments at all.
  • If you send me a list of matches from GedMatch with the cM set to 1 and the SNPs set to 100 and ask me what I think, I would simply to refer you to this article. But if I did reply, I would tell you that unless you have corroborating evidence, I think you’re wasting your time, but it’s your time and you’re welcome to do what you want with it. Life is about learning.
  • If you tell me you’ve drawn any conclusions from those types of matches (1cM and 100 SNPs), I’m going to be inconvincible without other tools such as genealogical proof,  parental phasing and triangulation groups that prove the segments to be valid to a specific ancestor for the people about whom you’re drawing conclusions. I might even suggest you look at the raw data in those segments to see if you’re dealing with runs of homozygosity.

Netting It Out

The net-net of this is that small segments can be useful, but it takes a lot more work because of the inherent questionable nature of small segment matches. This goes along with that old adage of “extraordinary claims require extraordinary evidence.”  Just be ready to roll up your shirt sleeves, because small segments are a lot more work!

Now having said all of that, I very much encourage continuing to triangulate your small segments and pay attention to them. You may notice patterns very relevant to your own genealogy, or you may learn that those patterns were somewhat deceptive – like IBD that turned into IBP.  Still useful and interesting, but perhaps not as originally intended.

Without continuing and ongoing research, we’ll never learn how to best utilize small segments nor develop the tools and techniques to sort the wheat from the chaff. Just be appropriately paranoid about conclusions based on small segments, especially small segments alone, and the smaller the segment, the more paranoid you should be!

There is a very big difference between working with small segments along with larger matching data and genealogy, which I encourage, and drawing conclusions based on small segment data alone and out of context, which I highly discourage.

Let’s hope that all of your matches come with large segments and matching ancestors in their trees!!!

Pickin’ Crab

You know, working with different cM levels and SNPs, especially as segments get smaller and more challenging, I’m reminded of “picking crab” at a good old North Carolina crab bake. You would never start out with a crab bake for breakfast.  You kind of have to work your way up to pickin’ crab – the same as small segments.  And you never pick crab alone. It’s a group activity, shared with friends and kin.  So is genetic genealogy.

You’ll need lessons, at first, in how to “pick crab” effectively. There’s a particular technique to it.  Friends teach friends.  You’ll find cousins you didn’t know you had, like Dawn in the brown shirt below, giving lessons to Anne.

Dawn lessons

A little practice and you’ll get it.

Just because it’s not easy doesn’t mean it’s not productive, especially when everyone works together!  And the results are “very good,” if you just have patience and work through the process.  If you decide that you “can’t pick crab,” then you’re right, you can’t pick crab, and you’ll just have to go hungry and miss out on all the fun!  Don’t let that happen.  Hint – sometimes the fun is in the pickin’!

Here’s hoping you can solve all of your brick walls with large cMs and large SNP counts, and if not, here’s hoping you enjoy “picking crab” with a group of friends and cousins and who will contribute to the ongoing research.

Pickin’ crab, or working on identifying difficult ancestors is always better when collaborating with others! Find cousins and fellow collaborators and enjoy!!! Genetic genealogy is not something you can do alone – it’s dependent on sharing.

crab pickin

Sometimes it’s as much about the friends and cousins you meet on the journey and the adventures along the way as it is about the answer at the end.

Family Tree DNA and GedMatch Dustup

crystal ball

The Crystal Ball by John William Waterhouse

It’s really unfortunate that a “conversation” that should have been private has gone public, but it has and there is no closing the barn door after the cow has left.

Genetic genealogy, and genealogy, is a highly emotional topic. Many of us feel very strongly, myself included.  After all, it’s our ancestors, flesh and blood we’re talking about.

I know that many people look to my blog for direction and commentary on these matters, so I feel obligated to say something.

For those who are not aware, in the past few days, GedMatch has stopped accepting Family Tree DNA autosomal data file uploads.  Circumstances and timing of events beyond that are murky at best and involve a bit of a “he said – she said” type of situation.  So, I’m not going to fuel any flames by reposting anything because I can’t verify the timing or order since I was not online when it occurred.  If you are a GedMatch user, you can see their announcement and commentary, which is what sparked the public portion of this issue, after signing on to your account and you can see Family Tree DNA’s responses and commentary to GedMatch’s posting on their Facebook page.

In summary, Family Tree DNA became aware of a potential security issue relative to their customer information at GedMatch and reached out to GedMatch to resolve the issue.  From that point forward, what actually happened is unclear, is only known to the “people in the room” at the time and judging from the outcome, may well involve some confusion or misinterpretation.  In any event, the resolution did not occur and GedMatch posted that they were no longer accepting uploads from Family Tree DNA.  (For the record, I am not one of the “people in the room,” so I, like you, don’t know.)

Unfortunately, this announcement fueled rampant speculation and outrage online and does nothing to resolve the potential problem for people whose kits are already being utilized on GedMatch.

So, here’s what I can and can’t tell you, and why.

What I can tell you:

This is not an issue with an individual having or sharing their DNA files.  You can still download your autosomal DNA files from Family Tree DNA.  This is not about paternalism or someone telling you what you should or shouldn’t do.  This is not about the DNA itself.  This is about security and privacy.  Period.

What I can’t tell you:

Having worked in a technology industry for years, I cannot responsibly tell you “the problem,” at least not until it’s resolved, or why it’s a potential problem, because it would then become open season for people to attempt to exploit the potential problem. And yes, they would try, in a heartbeat – just because.  This is why neither GedMatch nor Family Tree DNA have elaborated on this part of the issue.  They are being responsible, but unfortunately, their intentional and responsible ambiguity is feeding rather wild speculation in the larger community – and none of it positive.

No Crystal Ball

No one has a crystal ball. What is perfectly fine one day may not be the next due to changes beyond any one individual or firm’s control.  What is completely secure under one circumstance may not be when you add another vendor or service into the mix.  It happens continually in our high-tech world and it’s not intentional or due to negligence on anyone’s part.  Sometimes issues or potential issues don’t become evident immediately.  When they do, it’s incumbent upon the involved parties to resolve the problem or potential problem.  Where there is more than one party involved, it makes the situation inherently more difficult and calls for cooperation, which is where we are today.

What To Do

The good thing about social media is that it makes communications immediate. The bad thing about social media is that it’s very easy for misinformation and speculation to run like wildfire and to quickly take on the context of fact, fuel everyone’s emotions, and for a mob mentality to take over.  Don’t believe me?  Just look at the political rhetoric and associated “spin” this year, regardless of your position.

Here’s the bottom line. No one really knows what is going on.  Even the parties on both sides really only know “their” side and there are two sides to every story.  For outsiders, which means all of us, to jump into the fray is like the distant family taking sides in a family squabble.  Almost everyone has the information wrong, or only part of the information, but everyone has a very strong opinion based on what they think they know.  Agendas come into play and it gets ugly, very ugly, very quickly, which is again, where we are today.  I have been utterly horrified at some of the vitriol I’ve seen online.

The people who have figured out the problem, and there are a few, generally technology professionals, are doing what they should do and keeping their mouths shut. Let me translate this – they are more concerned for our security and well-being than the perception of the online community that they were “right.”   To those people, from all of us, thank you for your professionalism.

The other bad thing about social media is that even when the problem goes away, the hard feelings generated by speculation and misinformation don’t. The damage done by jumping to early, incorrect conclusions and fueling vilifying social rhetoric may never be undone either.  Damaging, or attempting to damage either party socially or otherwise is not beneficial to a resolution and may actually hinder the resolution that we want to see.  This ultimately damages all of genetic genealogy.

What I’m saying is this: We can’t do anything to actively “help” but we can certainly negatively impact the situation.  We really don’t know what is going on, and as such, should not be speculating or arriving at premature conclusions.  Rampant speculation is not helpful, is inaccurate and has the potential to make the situation much worse.  As a community, we need to give these firms some time and space without fueling the emotional flames which may indeed make their negotiations or communications, or whatever needs to happen, more difficult.

So, in the vernacular of my parenting, I’m asking us all to calm down, take a deep breath and a personal timeout:)  Let’s find something else fun and productive to do for a few days and leave GedMatch and Family Tree DNA alone, relative to this topic.  They have both stated that they want to resolve this situation.  Both of the companies are listening to us, are well-intentioned and engaged, which is far more than we receive from other companies in this field.  What more can we ask at this point?

I have every confidence that both of these firms are committed to genetic genealogists and want to resolve this issue – and that they will, given some time and space out from under the microscope and spotlight.  I’m sure they understand how the community feels regarding this issue – so at this point there is no need to say any more unless the issue isn’t resolved.

In this same vein, I apologize to my sane and rational commenters, but the comments portion of this blog posting is closed. I do not want to add to the online rhetorical issue.  If you have something to say to either party, then send it, in a polite and civil manner that would not embarrass your grandmother, directly to the parties involved.

Update 3-19-2016 – A joint announcement from GedMatch and Family Tree DNA this afternoon:

Family Tree DNA and GEDmatch jointly announce that we are in serious conversations regarding issues that have resulted in GEDmatch discontinuing uploads of FTDNA data. Both companies recognize the importance of these talks to their customers and are committed to quickly resolve differences. We regret any inconvenience that may have been caused and assure our users that our primary focus and efforts are geared toward your benefit.

23andMe, Ancestry and Selling Your DNA Information

Are you aware that when you purchase a DNA kit for genealogy testing through either 23andMe or Ancestry that you are literally giving these companies carte blanche to your DNA, the rights to your DNA information, including for medical utilization meaning sales to Big Pharm, and there is absolutely no opt-out, meaning they can in essence do anything they want with your anonymized data?

Both companies also have a higher research participation level that you can choose to participate in, or opt out of, that grants them permission to sell or otherwise utilize your non-anonymized data, meaning your identity is attached to that information.

However, opting out of his higher level DOES NOT stop the company from utilizing, sharing or selling your anonymized DNA and data.  Anonymized data means your identity and what they consider identifying information has been removed.

Many people think that if you opt-out, your DNA and data is never shared or sold, but according to 23andMe and Ancestry’s own documentation, that’s not true. Opt-out is not truly opt-out.  It’s only opting out of them sharing your non-anonymized data – meaning just the higher level of participation only.  They still share your anonymized data in aggregated fashion.

Some people are fine with this. Some aren’t.  Many people don’t really understand the situation.  I didn’t initially.  I’m very uncomfortable with this situation, and here’s why.

First, let me say very clearly that I’m not opposed to WHAT either 23andMe or Ancestry is doing, I’m very concerned with HOW, meaning their methodology for obtaining consent.

I feel like a consumer should receive what they pay for and not have their DNA data co-opted, often without their knowledge, explicit permission or full situational understanding, for other purposes.

There should also be no coercion involved – meaning the customer should not be required to participate in medical research as a condition of obtaining a genealogy test.  Most people have no idea this is happening.  I certainly didn’t.

How could a consumer not know, you ask?

Because these companies don’t make their policies and intentions clear.  Their language, in multiple documents that refer back and forth to each other, is extremely confusing.

Neither company explains what they are going to (or can) do with your DNA in plain English, before the end of the purchase process, so that the customer clearly understands what they are doing (or authorizing) IN ADDITION to what they intended to do. Obtaining customer permission in this fashion is hardly “informed consent” which is a prerequisite for a subject’s participation in research.

The University of Southern California has prepared this document describing the different aspects of informed consent for research.  If you read this document, then look at the consent, privacy and terms and conditions documents of both Ancestry and 23andMe, you will notice significant differences.

While 23andMe has clearly been affiliated with the medical community for some time, Ancestry historically has not and there is absolutely no reason for an Ancestry customer to suspect that Ancestry is doing something else with their DNA. After all, Ancestry is a genealogy company, not a medical genetics company.  Aren’t they???

Let’s look at each of these two companies Individually.

23andMe

At 23andMe, when you purchase a kit, you see the following final purchase screen.

23andMe Terms of Service

On the very last review page, after the “order total” is the tiny “I accept the terms of service” checkbox, just above the large grey “submit order” box. That’s the first and only time this box appears.  By this time, the consumer has already made their purchase decision, has already entered their credit card number and is simply doing a final review and approval.

In the 23andMe Terms of Service, we find this:

Waiver of Property Rights: You understand that by providing any sample, having your Genetic Information processed, accessing your Genetic Information, or providing Self-Reported Information, you acquire no rights in any research or commercial products that may be developed by 23andMe or its collaborating partners. You specifically understand that you will not receive compensation for any research or commercial products that include or result from your Genetic Information or Self-Reported Information.

You understand that you should not expect any financial benefit from 23andMe as a result of having your Genetic Information processed; made available to you; or, as provided in our Privacy Statement and Terms of Service, shared with or included in Aggregated Genetic and Self-Reported Information shared with research partners, including commercial partners.

Clicking on the privacy policy showed me the following information in their privacy highlights document:

  1. We may share anonymized and aggregate information with third parties; anonymized and aggregate information is any information that has been stripped of your name and contact information and aggregated with information of others or anonymized so that you cannot reasonably be identified as an individual.

In their full Privacy statement, we find this:

By using our Services, you agree to all of the policies and procedures described in the foregoing documents.

Under the Withdrawing Consent paragraph:

If you withdraw your consent for research your Genetic Information and Self-Reported Information may still be used by us and shared with our third-party service providers to provide and improve our Services (as described in Section 4.a), and shared as Aggregate Information that does not identify you as an individual (as described in Section 4.d).

And in their “What Happens if you do NOT consent to 23andMe Research” section:

If you do not complete a Consent Document or any additional consent agreement with 23andMe, your information will not be used for 23andMe Research. However, your Genetic Information and Self-Reported Information may still be used by us and shared with our third-party service providers to provide and improve our Services (as described in Section 4.a), and shared as Aggregate or Anonymous Information that does not reasonably identify you as an individual (as described in Section 4.d).

If you don’t like these terms, here’s what you can do about it:

If you want to terminate your legal agreement with 23andMe, you may do so by notifying 23andMe at any time in writing, which will entail closing your accounts for all of the Services that you use.

You can read the 23andMe full privacy statement here.

You can read the 23andMe Terms of Service here.

You can read the Consent document here.

Ancestry

Ancestry recently jumped into the medical research arena, forming an alliance with Calico to provide them with DNA information – that would be Ancestry’s customer DNA information – meaning your DNA if you’re an AncestryDNA customer. You can read about this here, here and here.

When you purchase an AncestryDNA kit, you are asked the following, also at the very end of the purchase process.  If you don’t click, you receive an error message, shown below.

Ancestry Terms and Conditions crop

Here are the Ancestry Terms and Conditions.

Here is the Ancestry Privacy Statement.

From Ancestry’s Terms and Conditions, here’s what you are authorizing:

By submitting DNA to AncestryDNA, you grant AncestryDNA and the Ancestry Group Companies a perpetual, royalty-free, world-wide, transferable license to use your DNA, and any DNA you submit for any person from whom you obtained legal authorization as described in this Agreement, and to use, host, sublicense and distribute the resulting analysis to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered. You hereby release AncestryDNA from any and all claims, liens, demands, actions or suits in connection with the DNA sample, the test or results thereof, including, without limitation, errors, omissions, claims for defamation, invasion of privacy, right of publicity, emotional distress or economic loss. This license continues even if you stop using the Website or the Service.

From their Privacy Statement, here’s what Ancestry says they are doing with your DNA:

vi) To perform research: AncestryDNA will internally analyze Users’ results to make discoveries in the study of genealogy, anthropology, evolution, languages, cultures, medicine, and other topics.

The is no complete opt-out at Ancestry either.

Now What?

So, how many of you read the Terms and Conditions and Privacy Statements at either 23andMe or Ancestry and understood that you were in essence giving them carte blanche with your anonymized data when you purchased your tests from them?

Is this what you intended to do?

How many of you understood that the ONLY way to obtain your genealogy information, ethnicity and matching is to grant 23andMe and Ancestry authorization to use your DNA for other purposes?

How many of you understood you could never entirely opt-out?

Where is your DNA?

Who has it?

What are they doing with it?

How much did or will Ancestry or 23andMe, or Big Pharm make from it?

Why would they want to obtain your DNA in this manner, instead of being entirely transparent and forthright and obtaining a typical informed consent?

Are they or their partners utilizing your DNA to design high end drugs and services that you as a consumer will never be able to afford?

Are they using your DNA to design gene manipulation techniques that you might personally be opposed to?

Do you care?

Personally, I was done participating in research when 23andMe patented their Designer Baby technology, and I’ve never changed my mind since.  There is a vast difference between research to cure Parkinson’s and cancer and focusing your research efforts on creating designer children.

People who do want medical information (such as from 23andMe) should be allowed to receive that, personally, for their own use – but no one’s DNA should be co-opted for something other than what they had intended when they made the purchase without a very explicit, separate, opt-in for any other usage of their DNA, including anonymized data.

Period.

People who purchase these services for genealogy information shouldn’t have to worry about their DNA being utilized for anything else if that’s not their specific and direct choice.

I shouldn’t have to opt-out of something I didn’t want and didn’t know I was signing up for in the first place – a type of usage that wouldn’t be something one would normally expect when purchasing a genealogy product. Furthermore, if I opt out, I should be able to opt out entirely.  You only discover opt-out isn’t truly opt-out by reading lots of fine print, or asking an attorney.  And yes, I still had to ask an attorney, to be certain, even after reading all the fine print.

Why did I ask a legal expert?  Because I was just sure I was wrong – that I was missing something in the confusing spaghetti verbiage.  I couldn’t believe these companies could actually do this.  I couldn’t believe I had been that naïve and gullible, or didn’t read thoroughly enough.  Well, guess what – I was naïve and gullible and the companies can and do utilize our DNA in this manner.

Besides that, “everyone knows” that companies can’t just do what they want with your DNA without an informed consent.  Right?  Anyone dealing with medicine knows that – and it’s widely believed within the genetic genealogy community.  And it’s wrong.

It seems that 23andMe and Ancestry have borrowed a page from the side of medical research where “discarded” tissues are used routinely for research without informed consent of the person from whom they originated.  This article in the New York Times details the practice, an excerpt given below:

Tissues from millions of Americans are used in research without their knowledge. These “clinical biospecimens” are leftovers from blood tests, biopsies and surgeries. If your identity is removed, scientists don’t have to ask your permission to use them. How people feel about this varies depending on everything from their relationship to their DNA to how they define life and death. Many bioethicists aren’t bothered by the research being done with those samples — without it we wouldn’t have some of our most important medical advances. What concerns them is that people don’t know they’re participating, or have a choice. This may be about to change.

Change is Needed

The 23andMe and Ancestry process of consent needs to change too.

I would feel a lot better about the 23andMe and Ancestry practices if both companies simply said, before purchase, in plain transparent normal-human-without-a-law-degree understandable language, the following type of statement:

“If you purchase this product, you cannot opt out of research and we will sell or utilize your anonymized results, including any information submitted to us (trees, surveys, etc.) for unspecified medical and pharmaceutical research of our choosing from which we and our partners intend to profit financially.”

If I am wrong and there is a way to opt out of research entirely, including anonymized aggregated data, while still retaining all of the genealogy services paid for from the vendor, I’ll be more than happy to publish that verbiage and clarification.

Today, the details are buried in layers of verbiage and the bottom-line meaning certainly is not clear. And it’s very easy to just “click through” because you have no choice if you want to order the test for your genealogy. You cannot place an order without agreeing and clicking the box.

This less-than-forthright technique of obtaining “consent” may be legal, and it’s certainly effective for the companies, guaranteeing them 100% participation, but it just isn’t morally or ethically right.

Shame on us, the consumers, for not reading the fine print, assuming everyone could understand it.

But shame on both companies for burying that verbiage and taking advantage of the genealogists’ zeal, knowing full well, under the current setup, we must authorize, without fully informed consent, their use of our DNA in order to test in their systems to obtain our genealogy information.  They know full well that people will simply click through without understanding the fine print, which is why the “I accept” box is positioned where it is in the sales process, and the companies are likely depending on that “click through” behavior.

Shame on them for being less than forthright, providing no entire opt-out, or better yet, requiring a fully informed-consent intentional opt-in.

Furthermore, these two large companies are likely only the tip of the iceberg – leading the charge as it were. I don’t know of any other DNA testing companies that are selling your DNA data today – at least not yet.  And just because I don’t know about it doesn’t mean it isn’t happening.

Other Companies

Family Tree DNA, the third of the three big autosomal DNA testing companies, has not and is not participating in selling or otherwise providing customer DNA or data for medical or third party research or utilization.  I confirmed this with the owners, this week.

Surely, if Ancestry and 23andMe continue to get away with this less than forthright technique, more companies will follow suit.  It’s clearly very profitable.

Today, DNA.Land, a new site, offers genetic genealogists “value” in exchange for the use of their DNA data.  However, DNA.Land is not charging the consumer for testing services nor obtaining consent in a surreptitious way.  They do utilize your DNA, but that is the entire purpose of this organization.  (This is not an endorsement of their organization or services – just a comment.)

GedMatch, a third party site utilized heavily by genetic genealogists states their data sharing or selling policy clearly.

It is our policy to never provide your genealogy, DNA information, or email address to 3rd parties, except as noted above.

They further state:

We may use your data in our own research, to develop or improve applications.

Using data internally for application improvement for the intended use of the test is fully legitimate, can and should be expected of every vendor.

Bottom line – before you participate in DNA testing or usage of a third party site, read the fine print fully and understand that no matter how a vendor tries, your DNA can never be fully anonymized.

Call to Action

I would call on both 23andMe and Ancestry to make what they are doing, and intend to do, with their customers DNA much more transparent. Consumers have the right to clearly know before they purchase the product if they are required to sign an authorization such as this and what it actually means to them.

Furthermore, I would call on both companies to implement a plan whereby our DNA can never be used for anything other than to deliver to us, the consumers, the product(s) and services for which we’ve paid unless we sign, separately, and without coercion, a fully informed consent opt-in waiver that explains very specifically and clearly what will occur with our DNA.

These companies clearly don’t want to do this, because it would likely reduce their participation rate dramatically – from 100% today for anonymized aggregated data, because there is no opt-out at that level, to a rate significantly lower.

I’m reminded of when my children were teenagers.  One of them took the car someplace they knew they didn’t have permission to go.  I asked them why they didn’t ask permission first, and they rolled their eyes, looked at me like I was entirely stupid and said, “Because you would have said no.  At least I got to go this way.”  Yes, car privileges were removed and they were grounded.

Currently 23andMe reports an amazing 85-90% participation rate, which has to reflect their higher non-anonymized level of participation because their participation rate in the anonymized aggregated level is 100%, because it’s mandatory.  Their “consent” techniques have come under question by others in the field as well, according to this article.  Many people who do consent believe their participation is altruistic, meaning that only nonprofit organizations like the Michael J. Fox Foundation will benefit, not realizing the full scope of how their DNA data can be utilized.  That’s what I initially thought at 23andMe.  Did I ever feel stupid, and duped, when that designer baby patent was issued.

Lastly, I would call on both companies to obtain a fully informed consent for every person in their system today who has already purchased their product, and to discontinue using any of the data in any way for anyone who does not sign that fully informed consent. This includes internal use (aside from product improvement), not just third party data sharing or sales, given that 23andMe is planning on developing their own drugs.

If you support this call to action, let both companies know. Furthermore, vote with your money and consumer voice. I will be making sure that anyone who asks about testing firms is fully aware of this issue.  You can do the same thing by linking to this article.

Call them:

23andMe – 1-800-239-5230
Ancestry – 1-800-401-3193 or 1-800-262-3787 in the US. For other locations click here

Write them:

23andMe – customercare@23andme.com
Ancestry – Memberservices@ancestrydna.com

I genuinely hope these vendors make this change, and soon.

For additional information, Judy Russell and I have both written about this topic recently:

And Now Ancestry Health
https://dna-explained.com/2015/06/06/and-now-ancestry-health/

Opting Out
http://legalgenealogist.com/blog/2015/07/26/opting-out/

Ancestry Terms of Use Updated
http://legalgenealogist.com/blog/2015/07/07/ancestry-terms-of-use-updated/

AncestryDNA Doings
http://legalgenealogist.com/blog/2015/07/05/ancestrydna-doings/

Heads Up About the 23andMe Meltdown
https://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

Phasing Yourself

Do you ever have one of those “lightbulb” moments?

I do.

I was wishing there was a way at GedMatch to compare everyone against me and my mother at the same time – to see who we both match.  And then I realized….there is….but not in the way I had been thinking.

Both of my parents are deceased now, but my mother swabbed before she passed over…a gift I thank her for daily.

GedMatch provides a Phasing program, under Analyze Your Data.

GedMatch phasing

I used the Phasing program to recreate my father whose DNA hasn’t been available from him since 1963.  I had my DNA and my mother’s autosomal DNA results, so the phasing program compared those two files and split my DNA in half and created a “half” file that is my mother and the remainder “half” file that is my father – or at least the half of him that I received.

I looked at the Mom half file and thought to myself that I should delete it to make space since I have the whole Mom file.

I’m glad I didn’t, although I could certainly have recreated the file, because it’s that phased half Mom file that is the equivalent of running my matches against me and Mom together to see which of my matches match us both.

And the clear benefit, of course, is that I know immediately which side of the family my matches are from.  Plus, if anyone doesn’t match me and a parent, then the results are not IBD, identical by descent.  Phasing against a parent is the gold standard in determining IBD vs IBC or identical by chance.

Let’s take a look at the match results.  Please note that 1500 is the GedMatch display limit, so when you see 1500, it means more than 1500, but you have no idea how many more than 1500.  By running your two (maternal and paternal) half phased kits, you can obtain up to 3000 instead of being constrained by the 1500 limit.  In order to see more than 1500, you can sort several columns in highest to lowest and lowest to highest order, and often you can obtain the entire list by sorting the columns and copy/pasting to Excel, so long as the entire list isn’t over 3000.

10 cM 7 cM 5 cM
Full Kit 825 1500 1500
Mother Half 145 495 1500
Father Half 583 1143 1500
Total 2 Halves 728 1638 3000
Not IBD 97 >138 unknown

Truthfully, I was surprised to lose 97 matches at 10cM by having them match neither parent.  That’s about 12%.

The other tidbit you may find interesting is that I have so many more matches on my father’s side than on my mothers.  My mother’s four grandparents were Dutch (the immigrant off the boat), Brethren (endogamous, German), German (immigrant off the boat) and Acadian/English (here since very early 1600s, endogamous).  My father’s ancestors have been in this country for hundreds of years – all of them.  The German, Dutch and French aren’t nearly as well represented in the DNA data bases as are the traditional colonial Americans who had lots of children and moved west, into Appalachia leaving lots of descendants today trying to sort through their ancestry.

So, if you have one or both of your parents’ DNA, phase yourself at GedMatch.

For those of you who don’t have parents available, but do have other relatives, try the Lazarus tool to reconstruct part of an ancestor’s genome.

Ethnicity Testing and Results

I have written repeatedly about ethnicity results as part of the autosomal test offerings of the major DNA testing companies, but I still receive lots of questions about which ethnicity test is best, which is the most accurate, etc.  Take a look at “Ethnicity Percentages – Second Generation Report Card” for a detailed analysis and comparison.

First, let’s clarify which testing companies we are talking about.  They are:

Let’s make this answer unmistakable.

  1. Some of the companies are somewhat better than others relative to ethnicity – but not a lot.
  2. These tests are reasonably reliable when it comes to a continent level test – meaning African, European, Asian and sometimes, Native American.
  3. These tests are great at detecting ancestry over 25% – but if you know who your grandparents are – you already have that information.
  4. The usefulness of these tests for accurately providing ethnicity information diminishes as the percentage of that minority admixture declines.  Said another way – as your percentage of a particular ethnicity decreases, so does the testing companies’ ability to find it.
  5. Intra-continental results, meaning within Europe, for example, are speculative, at best.  Do not expect them to align with your known genealogy.  They likely won’t – and if they do at one vendor – they won’t at others.  Which one is “right”?  Who knows – maybe all of them when you consider population movement, migration and assimilation.
  6. As the vendors add to and improve their data bases, reference populations and analysis tools, your results change. I discussed how vendors determine your ethnicity percentages in the article, “Determining Ethnicity Percentages.”
  7. Sometimes unexpected results, especially continent level results, are a factor of ancient population mixing and migrations, not recent admixture – and it’s impossible to tell the difference. For example, the Celts, from the Germanic area of Europe also settled in the British Isles. Attila the Hun and his army, from Asia, invaded and settled in what is today, Germany, as well as other parts of Eastern Europe.
  8. Ethnicity tests are unreliable in consistently detecting minority admixture. Minority in this context means a small amount, generally less than 5%.  It does not refer to any specific ethnicity. Having said that, there are very few reference data base entries for Native American populations.  Most are from from Canada and South America.

In the context of ethnicity, what does unreliable mean?

Unreliable means that the results are not consistent and often not reproducible across platforms, especially in terms of minority admixture.  For example, a German/Hungarian family member shows Native American admixture at low percentages, around 3%, at some, but not all, vendors.  His European family history does not reflect Native heritage and in fact, precludes it.  However, his results likely reflect Native American from a common underlying ancestral population, the Yamnaya, between the Asian people who settled Hungary and parts of Germany and also contributed to the Native American population.

Unreliable can also mean that different vendors, measuring different parts of your DNA, can assign results to different regions.  For example, if you carry Celtic ancestry, would you be surprised to see Germanic results and think they are “wrong?”  Speaking of Celts, they didn’t just stay put in one region within Europe either.  And who were the Celts and where did they ‘come from’ before they were Celts.  All of this current and ancient admixture is carried in your DNA.  Teasing it out and the meaning it carries is the challenge.

Unreliable may also mean that the tests often do not reflect what is “known” in terms of family history.  I put the word “known” in quotes here, because oral history does not constitute “known” and it’s certainly not proof.  For the most part, documented genealogy does constitute “known” but you can never “know” about an undocumented adoption, also referred to as a “nonparental event” or NPE.  Yes, that’s when one or both parents are not who you think they are based on traditional information.  With the advent of DNA testing, NPEs can, in some instances, be discovered.

So, the end result is that you receive very interesting information about your genetic history that often does not correlate with what you expected – and you are left scratching your head.

However, in some cases, if you’re looking for something specific – like a small amount of Native American or African ancestry, you, indeed, can confirm it through your DNA – and can confirm your family history.  One thing is for sure, if you don’t test, you will never know.

Minority Admixture

Let’s take a look at how ethnicity estimates work relative to minority admixture.

In terms of minority admixture, I’m referring to admixture that is several generations back in your tree.  It’s often revealed in oral history, but unproven, and people turn to genetic genealogy to prove those stories.

In my case, I have several documented Native American lines and a few that are not documented.  All of these results are too far back in time, the 1600s and 1700s, to realistically be “found” in autosomal admixture tests consistently.  I also have a small amount of African admixture.  I know which line this comes from, but I don’t know which ancestor, exactly.  I have worked through these small percentages systematically and documented the process in the series titled, “The Autosomal Me.”  This is not an easy or quick process – and if quick and easy is the type of answer you’re seeking – then working further, beyond what the testing companies give you, with small amounts of admixture, is probably not for you.

Let’s look at what you can expect in terms of inheritance admixture.  You receive 50% of your DNA from each parent, and so forth, until eventually you receive very little DNA (or none) from your ancestors from many generations back in your tree.

Ethnicity DNA table

Let’s put this in perspective.  The first US census was taken in 1790, so your ancestors born in 1770 should be included in the 1790 census, probably as a child, and in following censuses as an adult.  You carry less than 1% of this ancestor’s DNA.

The first detailed census listing all family members was taken in 1850, so most of your ancestors that contributed more than 1% of your DNA would be found on that or subsequent detailed census forms.

These are often not the “mysterious” ancestors that we seek.  These ancestors, whose DNA we receive in amounts over 1%, are the ones we can more easily track through traditional means.

The reason the column of DNA percentages is labeled “approximate” is because, other than your parents, you don’t receive exactly half of your ancestor’s DNA.  DNA is not divided exactly in half and passed on to subsequence generations, except for what you receive from your parents.  Therefore, you can have more or less of any one ancestor’s individual DNA that would be predicted by the chart, above.  Eventually, as you continue to move further out in your tree, you may carry none of a specific ancestor’s DNA or it is in such small pieces that it is not detected by autosomal DNA testing.

The Vendors

At least two of the three major vendors have made changes of some sort this year in their calculations or underlying data bases.  Generally, they don’t tell us, and we discover the change by noticing a difference when we look at our results.

Historically, Ancestry has been the worst, with widely diverging estimates, especially within continents.  However, their current version is picking up both my Native and African.  However, with their history of inconsistency and wildly inaccurate results, it’s hard to have much confidence, even when the current results seem more reasonable and in line with other vendors.  I’ve adopted a reserved “wait and see” position with Ancestry relative to ethnicity.

Family Tree DNA’s Family Finder product is in the middle with consistent results, but they don’t report less than 1% admixture which is often where those distant ancestors’ minority ethnicity would be found, if at all.  However, Family Tree DNA does provide Y and mitochondrial mapping comparisons, and ethnicity comparisons to your matches that are not provided by other vendors.

Ethnicity DNA matches

In this view, you can see the matching ethnicity percentages for those whom you match autosomally.

23andMe is currently best in terms of minority ethnicity detection, in part, because they report amounts less than 1%, have a speculative view, which is preferred by most genetic genealogists and because they paint your ethnicity on your chromosomes, shown below.  You can see that both chromosome 1 and 2 show Native segments.

Ethnicity 23andMe chromosome

So, looking at minority admixture only – let’s take a look at today’s vendor results as compared to the same vendors in May 2014.

Ethnicity 2014-2015 compare

The Rest of the Story

Keep in mind, we’re only discussing ethnicity here – and there is a lot more to autosomal DNA testing than ethnicity – for example – matching to cousins, tools, such as a chromosome browser (or lack thereof), trees, ease of use and ability to contact your matches.  Please see “Autosomal DNA 2015 – Which Test is the Best?”  Unless ethnicity is absolutely the ONLY reason you are DNA testing, then you need to consider the rest of the story.

And speaking of the rest of the story, National Geographic has been pretty much omitted from this discussion because they have just announced a new upgrade, “Geno 2.0: Next Generation,” to their offering, which promises to be a better biogeographical tool.  I hope so – as National Geographic is in a unique position to evaluate populations with their focus on sample collection from what is left of unique and sometimes isolated populations.  We don’t have much information on the new product yet, and of course, no results because the new test won’t be released until in September, 2015.  So the jury is out on this one.  Stay tuned.

GedMatch – Not A Vendor, But a Great Toolbox

Finally, most people who are interested in ethnicity test at one (or all) of the companies, utilize the rest of the tools offered by that company, then download their results to www.gedmatch.com, a donation based site, and make use of the numerous contributed admixture tools there.

Ethnicity GedMatch

GedMatch offers lots of options and several tools that provide a wide range of focus.  For example, some tools are specifically written for European, African, Asian or even comparison against ancient DNA results.

Ethnicity ancient admixture

Conclusion

So what is the net-net of this discussion?

  1. There is a lot more to autosomal DNA testing than just ethnicity – so take everything into consideration.
  2. Ethnicity determination is still an infant and emerging field – with all vendors making relatively regular updates and changes. You cannot take minority results to the bank without additional and confirming research, often outside of genetic genealogy. However, mitochondrial or Y DNA testing, available only through Family Tree DNA, can positively confirm Native or minority ancestry in the lines available for testing. You can create a DNA Pedigree Chart to help identify or eliminate Native lines.
  3. If the ancestors you seek are more than a few generations removed, you may not carry enough of their ethnic DNA to be identified.
  4. Your “100% Cherokee” ancestor was likely already admixed – and so their descendants may carry even less Native DNA than anticipated.
  5. You cannot prove a negative using autosomal DNA (but you can with both Y and mitochondrial DNA). In other words, a negative autosomal ethnicity result alone, meaning no Native heritage, does NOT mean your ancestors were not Native. It MIGHT mean they weren’t Native. It also might mean that they were either very admixed or the Native ancestry is too far back in your tree to be found with today’s technology. Again, mitochondrial and Y DNA testing provide confirmed ancestry identification for the lines they represent. Y is the male paternal (surname) line and mitochondrial is the matrilineal line of both males and females – the mother’s, mother’s, mother’s line, on up the tree until you run out of mothers.
  6. It is very unlikely that you will be able to find your tribe, although it is occasionally possible. If a company says they can do this, take that claim with a very big grain of salt. Your internal neon warning sign should be flashing about now.
  7. If you’re considering purchasing an ethnicity test from a company other than the four I mentioned – well, just don’t.  Many use very obsolete technology and oversell what they can reliably provide.  They don’t have any better reference populations available to them than the major companies and Nat Geo, and let’s just say there are ways to “suggest” people are Native when they aren’t. Here are two examples of accidental ways people think they are Native or related – so just imagine what kind of damage could be done by a company that was intentionally providing “marginal” or misleading information to people who don’t have the experience to know that because they “match” someone who has a Native ancestor doesn’t mean they share that same Native ancestor – or any connection to that tribe. So, stay with the known companies if you’re going to engage in ethnicity testing. We may not like everything about the products offered by these companies, but we know and understand them.

My Recommendation

By all means, test.

Test with all three companies, 23andMe, Family Tree DNA and Ancestry – then download your results from either Family Tree DNA or Ancestry (who test more markers than 23andMe) to GedMatch and utilize their ethnicity tools.  When I’m looking for minority admixture, I tend to look for consistent trends – not just at results from any one vendor or source.

If you have already tested at Ancestry, or you tested at 23andMe on the V3 chip, prior to December 2013, you can download your raw data file to Family Tree DNA and pay just $39.  Family Tree DNA will process your raw data within a couple days and you will then see your myOrigins ethnicity results as interpreted by their software.  Of course, that’s in addition to having access to Family Tree DNA’s other autosomal features, functions and tools.  The transfer price of $39 is significantly less expensive than retesting.

Just understand that what you receive from these companies in terms of ethnicity is reflective of both contemporary and ancient admixture – from all of your ancestral lines.  This field is in its infancy – your results will change from time to time as we learn – and the only part of ethnicity that is cast in concrete is probably your majority ancestry which you can likely discern by looking in the mirror.  The rest – well – it’s a mystery and an adventure.  Welcome aboard to the miraculous mysterious journey of you, as viewed through the DNA of your ancestors!

Autosomal DNA Testing 101 – Tips and Tricks for Contact Success

contact

In the first part of this two part series, Autosomal DNA Testing 101 – What Now?, we talked about the different kinds of things you can do when you receive your autosomal DNA test results from either Family Tree DNA, Ancestry or 23andMe.  There are, in general, 4 types of goals that people have when they test their autosomal DNA – if they have any specific goals:

  1. I want to meet people I’m related to.
  2. I want to confirm my genealogy is correct.
  3. I want to find new ancestors.
  4. I want to map my chromosomes to my ancestors.

Regardless of which of these goals you had when you tested, or have since developed, now that you know what is possible – most of the options are going to require you to do something – often contacting your matches.

One thing that doesn’t happen is that your new genealogy is not delivered to you gift wrapped and all you have to do is open the box, untie the bow around the scroll, and roll it down the hallway.  That only happens on the genealogy TV shows:)

Because of the different ways the various vendors have implemented their DNA matching software, there are different reasons why you might want to contact your matches.

23andMe

At 23andMe, you cannot send messages to your matches or share your matching DNA segments unless you obtain permission from each match to first communicate with them and then to share matching DNA segments, which can be one or two separate permissions.  23andMe has an internal messaging system that facilitates you sending a permission request to your matches.  Personalized messages work best.  If permission is granted, you can then begin a dialogue about common ancestors and how you might match that person.

Family Tree DNA

At Family Tree DNA, you are provided with the e-mail address of everyone that you match within each person’s privacy selections.  Participants can upload their GEDCOM files, create family trees and enter a list of ancestral surnames.  You can search by current or ancestral surname.  The most common reason to contact someone you match at Family Tree DNA is if you are a match to them and they have not uploaded or created a family tree.

Ancestry

Ancestry also uses an internal messaging system.  The most common reason to contact a DNA match at Ancestry is if you match someone, and especially if you share a shakey leaf hint with them, meaning you have a common ancestor in your trees – but your match’s tree is private and you can’t see who that common ancestor might be.

GedMatch

If you upload your results to www.gedmatch.com, a free (donation based) site, you can then match your results to people who tested at all 3 companies – if they also have uploaded their results.  People provide their e-mails when uploading and configuring their accounts at GedMatch.  People who use GedMatch are often the most excited and “into” autosomal DNA matching and therefore, the most likely to contact matches.

Regardless of where you are matching, it’s important to make that first communication attempt count.  At 23andMe, if your match declines contact, you can’t communicate with them.  If they don’t reply, you can delete that first contact attempt and try again, but your attempts are limited – so you really do have to make them count.

Here are some helpful hints and approaches that do and don’t work well.  Your goal is to obtain a helpful response, so you want to position yourself in the best possible light to get that response.

A faux pas may kill your chances, so let’s start out with what not to do, and why, then we’ll look at how to make your communications a winner!

Don’t!

  • Don’t send group e-mails to everyone you match saying, “Hi, we all match. Can you tell me how?” Guess what? You won’t get many or any replies and you’ll have irritated all of your matches in one fell swoop. This is considered DNA spamming. Think about what you are writing before you press that send button.
  • Don’t say things like this to people: “Hi, I’m guessing (or hoping) that you’ve mapped your (or your cousin’s) chromosomes and you can just tell me how we are related.” When I told this person I have not mapped my cousin’s chromosomes – they had the bad judgment to ask me when I might get around to it.
  • Don’t provide just a few surnames and ask if they are related. Most of your matches will be more than 2 or 3 generations back in the tree, so the answer is likely going to be “no,” or no answer at all.
  • Don’t offer to send them an ancestry invite. That means they have to sort through your entire tree to find a match, AND Ancestry will attach your tree to their list forever. Give the e-mail recipient something to work with in the e-mail itself. Don’t make your problem their problem or they won’t reply. The more work they have to do to reply, the less chance they will.
  • Don’t send multiple e-mails with dribs and drabs of information in each one. If you have something to share, put it together logically and concisely in an e-mail and send one.
  • Don’t assume that someone of a different ethnicity isn’t related to you.
  • Don’t assume a particular surname is indicative of a person’s entire genealogical background.
  • Don’t convey an entitlement attitude. Remember, you are asking them to take a few minutes of their time to help you.
  • Don’t assume that all of your matches are from the US, or that English is their primary language – so use full state names and locations. The good news is that more and more people are testing from around the world.
  • Don’t send messages in all caps.
  • Don’t send messages with misspellings, incorrect grammar or abbreviated texting language. Translated, this means your phone or i-pad with autocorrect is probably not a good idea.
  • Don’t send the entire request in the title of the message. Yes, people do this.
  • Don’t send a message with a title like “hi there.”  It’s likely to go to the spam folder or be over looked or ignored.  Instead, title each message with the name of the test, the testing company and whose DNA you are writing about.  In other words, something like this: “Autosomal DNA Match at Family Tree DNA to John Doe”
  • Don’t just send the “canned” request message at 23andMe. Send a personal note. If you have an online tree, include that link. If you notice you have ancestors from the same part of the world, or country, tell them. If you match their DNA, tell them. Some people send match requests because they notice a common surname. In other words, try to find some common ground to start a conversation.
  • Don’t dash off a hurried, half-baked, partially complete message.  It shows and will be reflected in the responses you do, and don’t, receive.
  • Don’t expect others to do your work for you.  Recently, I received a match contact and when I asked the sender for the name of the person they matched, they told me they couldn’t remember, they had sent out a “mass mailing,” and asked me to check my kits and see if there were matches to them.  Seriously?  They also didn’t tell me the testing company name, nor the test type.  Three e-mails later, I still don’t know the name of the person they matched.  Guess what.  Delete!  Make it easy for your matches to help you and don’t waste their time by only providing partial information.

Do!

  • Read your matches profiles if they have provided one. It shows you took the time to read what they provided, and may give you some common ground out the door. “I see we both have ancestors from the Netherlands,” is a good icebreaker, for example.
  • Address the e-mail to the person using their name if it’s available. In other words, begin, “Hi Joe” not just “Hi.” Do not assume a gender. Names can be deceiving. My name is not deceiving, Roberta, but I can’t tell you how many e-mails I receive to Robert or “Mr. Estes.” This tells me they didn’t pay attention.
  • Do use capital letters and punctuation.  Otherwise, you’re telling the person on the receiving end they aren’t important enough to bother with – and they will likely treat your request in kind.
  • Enter information about yourself in your profile at the vendors, including your country of origin.
  • Upload a photo of yourself into your profile at the vendor so that people can see you. This makes you seem more like a real person and they may look at you for family resemblance. Probably shouldn’t upload a photo that might be controversial or off-putting if your goal is to maximize response.
  • Link your tree to your DNA results (Ancestry) or upload a Gedcom file (Family Tree DNA.) 23andMe is more challenging since their collaboration with My Heritage which is a subscription service. Most people simply put a link to their public tree someplace in their profile information at 23andMe.
  • Provide your name and kit number or other identifying information in all correspondence – including the first e-mail.
  • Include kit numbers (GedMatch) and/or names (Family Tree DNA) that you’re matching. Many people manage multiple kits for family members and if they have to go and look for you in their kits’ matches, they won’t.  Don’t make the recipient have to guess at any part of the equation.  Say something like this, “Hi, I match John Smith’s autosomal DNA test at Family Tree DNA and you are his e-mail contact…”
  • Tell them where you tested and where you are matching them. “Hi, I tested at Ancestry and downloaded by kit to GedMatch where I’m kit number A100007. I’m matching kit F9141, Jane Doe, where you are listed as the contact.”  Be sure to get the name of the testing company right.  Today, someone told me the test was through “Family Search,” who, of course, does not do DNA testing.
  • If you are matching on a Y or mitochondrial DNA test, tell them at what level you’re matching.  Otherwise, they have to search through each level to find you.  On mitochondrial DNA, if you and they both tested to the full sequence level, but you’re only matching on the HVR1 level, it’s not nearly as compelling or interesting as if you match at the full sequence level with no mutations difference.  So, tell them, “I’m a match to John Doe at Family Tree DNA at the full mitochondrial level, with no mutations difference.  Maybe we can find our common ancestor.  My direct mitochondrial line is….”
  • If you are matching at GedMatch and you lowered the match threshold from the default, tell them. Better yet, don’t lower the threshold, at least not for initial comparisons.
  • Make replying to your query as easy as possible. You stand a much better chance of getting a reply. The more work you make them do, the less chance you’ll get a reply.
  • Include your full name and e-mail address if you are using Ancestry’s or 23andMe’s message systems.
  • Get your facts straight. I recently received an e-mail from someone who told me that we matched on 21% of our DNA and one segment. I knew that was impossible because 21% is in the half sibling range and if you’re a half sibling – you will match on a whole lot more than one segment. If you don’t pay attention and get your facts straight, it’s less likely that the person you are contacting will take you seriously.
  • Accept contact requests if you tested at 23andMe and receive a contact or sharing request, and be sure to share genomes so that you can see how you match and use their comparison tools like their Family Inheritance: Advanced.
  • Include a very brief, maybe two sentence summary about yourself in contact requests. Something like. “It appears we may match on my father’s side which is primarily from Appalachia, which means they were Scotch-Irish and British before that” or “My maternal heritage is from Scandinavia, so the names may not look familiar to you. My mother’s family is from the area near Stockholm.” Do not tell them your life story or ramble. You’ll lose them.
  • Send a pedigree chart (preferably with an index) in pdf format if you’re using e-mail or a link to a tree. I have a pedigree chart for my mother’s side and my father’s side. I can tell which side they match because my mother has tested as well. One of the best tools I have ever received with a query is shown below. It was sent as a spreadsheet, which made it incredibly easy for me to sort, but wouldn’t work for everyone. It could be sent as a pdf file as well, and is very easy to scan for surnames and locations. I immediately liked this person and absolutely knew they were serious and we stood a chance of making a genealogy connection.  (Click on the image to make larger in a separate window.)

ancestor spreadsheet

  • Take the time to learn about autosomal DNA, matching and what it means. Aside from the many articles on this blog which you can find by using the key search word “autosomal,” here are four additional resources for you:

Genetic Genealogy: The Basics and Beyond by Emily Aulicino
NextGen Genealogy: The DNA Connection by David Dowell
DNA Adoption’s classes
Beginners Guide to Genetic Genealogy by Kelly Wheaton

  • If you’re adopted or searching for an unknown parents or grandparent, visit www.dnaadoption.com.
  • If you have a blog or genealogy webpage, include that information, maybe below your signature.
  • If you’re serious about maximizing your opportunities for success with genetic genealogy, you’ll want to test at all 3 companies, Family Tree DNA (Y, mtDNA and autosomal), Ancestry and 23andMe. Family Tree DNA facilitates reduced cost file transfers from Ancestry and from 23andMe if you tested before Dec. 2013 (when 23andMe changed their chip.) They all have their strong and weak points – but the bottom line is that you’ll want to fish in all three ponds. You’ll also want to download your results from one of those companies, preferably Family Tree DNA or Ancestry, to www.gedmatch.com, a site that facilitates comparison of data from the various companies and provides some great tools. GedMatch is a contribution site, so don’t forget to donate. Some of their Tier 1 tools require a minimal subscription of $10 a month, which is well worth it if you are serious. Ask your matches if they have downloaded their data to GedMatch and provide your kit number there.
  • Be courteous and gracious. Say please and thank you. You’d be amazed how many people say neither.
  • Share this article with eager newbies who need a little direction. Most newbies aren’t going to find this article before shooting off that e-mail in their initial excitement to an entire group of matches. By helping them to better focus their efforts, you’ll be helping yourself too. Most newbies have no idea what they’ve just gotten themselves into!

Acknowledgements:  Thanks to contributors in the ISOGG Facebook group for helping to flesh out these tips for success.

Autosomal DNA Testing 101 – What Now?

When I first started this blog, my goal was to provide explanations and examples of genetic genealogy topics so that there would be fewer questions and easier answers.

That sounded like a great idea, but the reality of the situation is that the consumer market for autosomal DNA testing has exploded – meaning more and more consumers with more and more questions.  Compounding that situation, the consumers who purchase these tests today, especially on impulse, and mostly I’m referring to Ancestry.com here, often have absolutely no idea what to expect or even what they want except that Ancestry will find their ancestors for them.  That’s because that’s what Ancestry tells them in their advertising.

So, in the big picture, the questions and inquiries that experienced people are currently receiving are becoming less specific and more general and often exhibit a lack of understanding of what DNA testing can do.  It’s frustrating to parties on both sides of the fence, but I’m glad people are asking because it means they are interested and willing to learn.

Rather than approach this topic from a technical perspective of how to work with autosomal DNA, I’d like to talk about what can be done with autosomal DNA testing from a newbie perspective.  The person who just got their results back and are saying to themselves, “OK, now what can I do with this?”

However, there is lots “how to” information in this article for everyone if you click on the links.  If nothing else, this gives you a tool to send to those overly excited newbies who are starry eyed but have no clue how to proceed.  Remember, you were once new too!

This is part 1 of a two part series.  The second part will focus on how to make contact with your matches successfully.  But now, let’s pretend it’s day 1 and you just got your autosomal test results back.

Why Did You Test?

The first question to ask yourself is why did you test in the first place?  If your answer is “because Ancestry had a sale,” that’s fine, but then you’ll need to read all four options to know what you can do with autosomal DNA.

1.  I want to meet other people I’m related to.

Ok, but the first thing here you’re going to have to define is the word “related.”  You are likely related to everyone on your match list.  I said likely, because there may be some people there whose DNA simply matches yours by chance.  For the most part, and especially for those people who are your closest matches, you’re related somehow. The challenge, of course, is to figure out how – meaning through which ancestor.  This is the genealogy jigsaw puzzle of you!

All three of the major vendors, Family Tree DNA, Ancestry and 23andMe show you your closest matches first on your match list.

autosomal 101 FTDNA

Do you want to meet your DNA cousins only if you can identify a common ancestor?  Do you want to work with them on genealogy? The answers to these questions will help sort through the rest of what to do and how.

If your goal is to contact your matches, then Family Tree DNA is the easiest, as they provide you with the e-mail addresses of your matches by clicking on the little envelope for each match on your match page, shown above.

Ancestry is second easiest, but forces you to use their internal message system which often doesn’t deliver the messages.  (Do not send more than 30 in one day or Ancestry will blacklist your messages and block your communications, thinking you are a spammer.)

23andMe is the most difficult as you have to request permission to communicate with each match and also to share DNA and if your match authorizes communication, then you can communicate through 23andMe’s message system.  Sound cumbersome?  It is and the response rate is low.

Confirming Genealogy

Let’s look at another reason for testing.

2.  I want to confirm my genealogy is correct – meaning that my great-grandfather really is my great-grandfather and so forth on up the line.

Well, you’re in luck, especially if some of your cousins, known or otherwise, have tested.  Confirming your genealogy is easier done in closer generations than more distant ones and the more cousins from various lines that have tested, the better.  That’s because you will share more of your DNA with relatives when you have a close common ancestor.

Autosomal DNA is divided approximately in half in each generation, when the child receives half of their DNA from each parent – so the closer your cousin, the more likely you are to share more DNA with them.  The more DNA you share, the more likely you are to be able to identify which ancestor it comes from.  And if a match matches you and your proven cousin both on the same segment, that identifies positively which line that match comes from.  That three way matching is called triangulation.

Let’s talk about the word “confirm.”  Herein lies a challenge, because DNA does have the absolute ability to confirm ancestors, as noted above.  DNA also has the ability to give you hints that go towards a “preponderance of evidence.”  DNA, can also lead you astray if you draw erroneous conclusions – and one vendor provides a tool (or tools) that encourages overstepping conclusions.  Let’s look at each circumstance.

Proof Positive through Triangulation

Just what it says – absolutely unquestionable proof that a particular ancestor is your ancestor.  If you match two other people who also descend from your common ancestors, Joe and Jane Doe, on the same segment of DNA, that is confirmation that you share that ancestor and that segment of your DNA is considered proven to that ancestral line.  This requires two things.  First, that your DNA matches on the same segment AND that you have identified the same ancestors, Joe and Jane Doe, genealogically in your trees.

Now, you probably can’t tell which side of the couple, Jane or Joe, the DNA is from unless you also match two people on just Jane’s side of the family or just Joe’s on that same segment.

One caveat here – counting you and your parent as two of the three people doesn’t work because you and your parents are too close in the tree.  By three people, that would preferably be three people who descend from that couple through three different children.

Here’s an example.

JohnDoe

It would also ideally be more than three people, but three is the minimum to form a triangulation group.  In the real world, these matches might not start and end of the same segments as in the example above, but the overlapping portion should be significant

The example above is proof positive, because the three people descend from the same ancestor, through different children, and match on the same chromosome in the same locations.

This technique is called triangulation.

Now for the bad news – you can’t do this at Ancestry.com, because they don’t provide you with any of the segment information in the last 5 columns.  Ancestry has no chromosome browser, which is the tool that shows you where on your DNA you match your cousins.

Family Tree DNA’s chromosome display tool that is part of their chromosome browser is shown below.

Two cousins browser

On the example above, you can see that Barbara Jean Long, the black background person on the chromosome graphic, is being compared to her two first cousins, the blue and orange on the chromosome graphic.

You can download the information from Family Tree DNA or 23andMe in spreadsheet format, or you can display the information graphically, like in the example above.  You can see the “stacked” locations where both the cousins match the black background person they are being compared to.  You can also see that there are some locations where only one of the cousins matches the background person, like on chromosome 20.  And of course, some locations where neither cousin matches the background person, like on chromosome 21.

If you download that data, the information gives you the locations where the people being compared match the person they are being compared against.

Two cousins combined

The chart above is the download of part of chromosome 1 for Barbara, Cheryl and Donald, siblings who are Barbara’s first cousins.

The areas where the 3 people overlap, or triangulate, are colored in green on the spreadsheet, while the rows entirely in pink or blue do not triangulate – meaning Barbara matches either one cousin or the other, but not both.  Keep in mind that this example only proves their common ancestral couple, which in this case are common grandparents – but the technique is the same no matter which common ancestor you are trying to prove.

This bring us to our next topic, that of close relatives.

Close Relative Matches

I previously said that you can’t use you and a close relative to prove a distant ancestor.  But that’s not necessarily true when the relationship you are trying to prove is closer in time.  The chart below shows the relationships of the example above.

Miller Ferverda chart

In the case shown above, two first cousins who are siblings, Cheryl and Don, are being compared to their common first cousin, Barbara.  Their fathers were siblings and their common ancestors were their grandparents.  This is not 6 generations up a tree where matching is iffy.  You can be expected to match closely with your first cousins where you may not match with more distant cousins, because you simply didn’t inherit any of the same DNA from your distant common ancestor.  You should be sharing about 12.5% of your DNA with first cousins, and if you have first cousins that you’re not matching, that might signal that an undocumented adoption has occurred in one line or the other.

In a case like this, if you and a first cousin match, that suffices to prove a close connection.  If you don’t match, it suffices to raise questions.  A lot of questions.  Big ugly questions.  The next thing to do is to see if any other known cousins have tested and who they match – or don’t match.

For example, if Barbara Ferverda was not the child of John Ferverda, she would not match either Cheryl nor Don, and we’d know there was a problem.  If Cheryl and Don match other Ferverda or Miller relatives and Barbara didn’t, then we’d know the genetic break in the line was on Barbara’s side and not on Cheryl/Don’s side.

This same technique is also how we know which “side” matches are on.  If an unknown match matches both Barbara and Cheryl, for example, it’s a good bet that their common ancestor is someplace in the Miller/Ferverda line.  If they also match another Miller on the same segment, then the common ancestor has been narrowed to the Miller side of the Miller/Ferverda couple.

Unfortunately, not all DNA results are as definitive or easy to prove as these.  Let’s look at some of the more “squishy” results.

Preponderance of Evidence through Aggregated Data

In regular genealogy, there are a range of proofs.  There is direct evidence that someone is the child of an ancestor.  That would be a will, for example, that names a daughter and her husband and maybe even tells where they moved to.  This would be your lucky day!

Think of that will as equivalent to triangulated proof of a common ancestor.  There is just no arguing with the evidence.

If you’re not that lucky, you have to piece the shreds of indirect evidence together to make a story.  In the genealogy world, this is called preponderance of evidence, and I am always, always much less comfortable with this type of evidence than I am with solid proof.

There are various flavors of pieces of evidence in the DNA world. Sometimes we have hints of relationships without proof.

The most common is when you have matches with a group of people who share the same surname, but you can’t get back far enough to find a common ancestor.  Is this a probable match?  Yes?  Guaranteed?  No.  Have I seen them fall apart and the actual match be on another entirely unrelated line?  Yes.  See why I call these squishy?

Ancestry takes this one step further with their DNA Circles.  For a DNA Circle to be created, you must match DNA with someone in the Circle AND everyone in the Circle must match DNA with someone else in the Circle AND everyone in the Circle must have a common ancestor in their tree.  Circles begin with a minimum of three people.  Generally, the more people who match AND have the same ancestor, the stronger the likelihood that you would be able to confirmation the common ancestor of the group as your ancestor too – if you had a chromosome browser type of tool.  Still, Circles alone are not and never will be, proof.  Circles are great hints and along with other research, can confirm genealogical research.  For example, my paper genealogy says I descend from Henry Bolton, and I find myself in Henry Bolton’s tree, matching several other Bolton descendants through Henry’s other children.  Those multiple connections pretty well confirms the paper trail is accurate and no undocumented adoptions have occurred in my line.

Now, the bad news….Circles is predicated upon matching of trees.  If there is a common misconception out there that is replicated in these trees, then people who match will be shown in a Circle predicated on bad information.  And, there is no way to know.  However, people interpret the existence of a DNA Circle as proof positive and that it confirms the tree.  Membership in a DNA Circle is absolutely NOT proof of any kind, let alone proof positive – except that your DNA matches the people who you are connected to by lines and their DNA matches the people they are connected to by lines.  You can see my connections in orange below, and the background connections in light grey.

circle henry bolton matches2

This is an example of my Henry Bolton Circle.  I match 5 different people’s DNA (the orange lines) who also show Henry Bolton as their ancestor.  This does NOT mean the match is on the same segment, so it is NOT triangulated.  This is a grouping of data where multiple people match each other, not a genetic triangulation group where everyone matches on the same segment.  In fact there are cases that I have found where the person I match in a circle is through a different line entirely, so in that case, the presumption of which common ancestor our common DNA is from is incorrect.

I want to be very clear, there is nothing wrong with DNA Circles, so far as they go.  The consumer needs to understand what Circles are really saying – and what they can’t and don’t say.  DNA Circles are another important tool in our arsenal.  We just have to be careful not to assume, or presume, more than is there.  Presuming that we match someone in the Circle because we share Henry Bolton’s DNA may in fact be inaccurate.  We may match on a completely unrelated line – but because we do match and share a common ancestor in our tree – we both find ourselves in the Henry Bolton Circle.

Are you reading those squishy words?  Presume – it’s related to the word assume…right???  And keep in mind that Circles are created based in part on those wonderfully accurate Ancestry trees.  Are you feeling good about this preponderance of evidence yet?

However, in my case, I’ve done due diligence with the genealogy and I have all of my proof ducks in a row.  The fact that I do match so many Bolton descendants confirms my work, along with the fact that at the other vendors and at GedMatch, I  have triangulated my matches and proven the Bolton DNA.  So, this circle is valid but the only proof I have is not found at Ancestry or because I’m a Circle member, but by triangulation and aggregated data using other vendor’s tools.

This next screen shot is of an exact triangulated match using GedMatch’s triangulation tool.  Each line shows me matching two cousins, along with the start and stop segments.  This just happens to be the Ferverda example.  So, I match six people, all on the same segment, all with a known common ancestor.  This is proof positive.  Not all “matching” is nearly so definitive.

Gedmatch triangulation

Sometimes the matches aren’t so neat and tidy. That’s when we move to using aggregated data.

Aggregated Data – What’s That?

Aggregated data is a term I’ve come up with because there isn’t any term to fit in today’s genetic genealogy vocabulary.  In essence, aggregated data is when a group of people (who may or may not know who their common ancestor is) match on common segments of data, but not necessarily on the same segments, or not all of the same segments.  When you have an entire group of these people, they form a stair step “right shift” kind of graph.

The interesting part of this is that by utilizing aggregated data and looking not only at who we match, but who our matches match that share a common ancestor, we can gain insight and hints.  Finding a common ancestor is of course a huge benefit in this type of situation because then you’ve identified at least a DNA “line” for the entire group.

If we were to utilize the triangulation tools at Gedmatch and look at my closest triangulated matches, they would look something like this, where the segments that I match with each person (or in this case, two people) shift some to the right.  What you are seeing is the start and stop match locations, with graphing.  Therefore, I match all of these people that have a common ancestor.

Each match overlaps the one above and below to come extent – and often by a lot.  These are known as triangulation groups (TG).

However, the top match and the bottom match do not overlap, so they don’t triangulate with each other.  They are still valid triangulated matches to me and you can expect to see this kind of matching when using aggregated data.

Understand that when you see your triangulation groups at GedMatch, your mother’s side and your father’s side will be intermixed. In this case, I know the common ancestor and I know many of these testers, so I’m positive that this is a valid grouping (plus, they all match my Mom too – the best test of all.)

gedmatch triang group

Here’s another example only showing three matches.  All three are triangulated to me through the same ancestor, but the locations of the top and bottom matches don’t overlap with each other.  Both overlap the one in the middle in part.

gedmatch overlap

New Ancestor Discoveries – Not Evidence at All

Let’s look at the third reason for DNA testing.

3.  I want to find new ancestors.

Discovering brand new ancestors is a bit tougher.

There are two ways to discover new ancestors.  The first is through triangulation combined with traditional genealogy.  I have done this, but in these cases, I did have a clue as to what I was looking for.  In other words, the new ancestor I discovered was actually confirming a wife’s surname or identifying the parents of an ancestor from several potential candidate couples.

The second way to potentially discover a new ancestor is Ancestry’s New Ancestor Discoveries, NADs, which is really a somewhat misleading name.  What Ancestry has determined is that you match a group of people who share a common ancestor – and Ancestry’s leap of faith is that you share that ancestor do too.  While that may not be correct, what IS very relevant is that you do match this group of people who DO share a common lineage and there is an important hint there for you someplace!  But don’t just accept Ancestry’s discovery as your new ancestor – because there is a good chance it isn’t.  Let’s take a look.

Ancestral Lines Through Triangulation

Let’s go back to the John Doe example.

JohnDoe

Let’s take the worst case scenario.  You’re an adopted and have no information.  But you match an entire group of people in a triangulated group who DO know the identity of their common ancestor.

Does this mean that John Doe is your ancestor?  No.  John Doe could be your ancestor, or he could be the brother of your ancestor, or the uncle of your ancestor.  What this does tell you is that either John Doe is your ancestor, some of John Doe’s ancestors are your ancestors, or you are extremely unlucky and you are matching this entire group by chance.  The larger the segment, the less likely your match will be by chance.  Over 10 cM you’re pretty safe on an individual match and I think you’re safe with triangulated groups well below 10 cM.

Ancestry’s New Ancestor Discoveries

You can make this same type of discovery at Ancestry, but it’s not nearly as easy as Ancestry implies in their ads and you have no segment data to work with, just their match, shown below.

Larimer NAD

“Just take the test and we’ll find your ancestors,” the ad says.  Well, yes and no and “it depends.”

Ancestry went out on a limb a few months ago, right about April Fools Day, and frankly, they fell off the end of the branch by claiming that New Ancestor Discoveries are your missing ancestors found.  While that is clearly an overly optimistic marketing statement, the concept of matching you with people you match who all share a common ancestor is sound – it was the implementation and hyper-marketing that was flawed.

The premise here is that if you match people in a Circle that have a common ancestor, that you too might, please note the word might, share that ancestor – even if that person is not in your tree.  In other words, even if you don’t know who they are.  Just like the John Doe triangulation example above.

Here is my connection to the Larimer DNA Circle, even though I don’t know of a Larimer ancestor.

Larimer NAD circle

Now, the problem is that you might be related to an ancestor on one side upstream several generations, but it’s manifesting itself as a match to that particular couple because several people of that couple’s descendants have tested.  I’ve shown an example of how this might work below.

common unknown ancestor

In this example, you can see that your true common ancestor is unknown to both groups of people, but it’s not Mary Johnson and John Jones, or in my case, not John and Jane Larimer.

However, three descendants of Mary Johnson and John Jones tested, and you match all three.  If you also showed Mary Johnson and John Jones in your tree, then you’d be in a Circle with them at Ancestry.  However, since Mary Johnson and John Jones are NOT your ancestors, they are not in your tree.  Since you match three of their descendants, Ancestry concludes that indeed, Mary Johnson and John Jones must also be your ancestors.

While NADs are inaccurate about half the time, the fact that you do share DNA with the people in this group is important, because someplace, upstream, it’s likely that you share a common ancestor.  It’s also possible that you match these three people through unconnected ancestors upstream and it’s a fluke that they all three also descend from this couple.  And yes, that does happen, especially when all of the people involved have ancestors from the same region.

The first day that Ancestry rolled the New Ancestor Discoveries, I was assigned a couple that could not possibly be my ancestors.  I called them Bad NADs.

In my experience, there are more erroneous NADs out there than good ones.  I knew my original one was bad, as I had proof positive because I have triangulated my other lines.  Then, one day, my bad NAD was gone and now, a few weeks later, I have another assigned NAD couple that I have not been able to prove or disprove – the Larimers.  Truthfully, after the bad NAD fiasco, I haven’t spent a lot of time or effort because without tools, there is no place to go with this unless the people I match will download their results to GedMatch.  I’m hoping that a new tool to be released soon will help.

Here’s how NADs could be useful.  Let’s say that my Larimer matches download to GedMatch and I discover that they also match a triangulated group from my McDowell line.  Well, guess what – my Michael’s McDowell’s wife is unknown.  Might she be a Larimer?  Michael’s mother is also unknown.  Might she be a Larimer?  It gives me a line and a place to begin to work, especially if they share any common geography with my ancestors.

Even if the NADs aren’t my direct ancestors, this is still useful information, because somehow, I probably do connect to these people, even though my hands are somewhat tied.  However, labeling them New Ancestor Discoveries encourages people to jump to highly incorrect conclusions.  This isn’t even in the preponderance of evidence category, let alone proof.  It’s information that you can potentially use with other DNA tools (at GedMatch) and old fashioned genealogy to work on proving a connection to this line.  Nothing more.

So what is the net-net of this? Circles can count in the preponderance of evidence, especially in conjunction with other evidence, but NADs don’t.  Neither are proof.  If we were able to work with the segment data and compare it, we might very well be able to determine more, but Ancestry does not provide a chromosome browser, so we can’t.

Ancestor Chromosome Mapping

4.  I want to map my chromosomes to my ancestors so that I know which of my DNA I inherited from each ancestor.

If this is your DNA testing goal, you certainly did not start by testing with Ancestry.com, because they don’t have any tools to help you do this.  This tends to be a goal that people develop after they really understand what autosomal DNA testing can do for them.  In order to map your genome, you have to have access to segment information and you have to triangulate, or prove, the segments to each ancestor.  So count Ancestry out unless you can talk your matches into downloading their raw data files to either GedMatch or Family Tree DNA.  You’ll be testing with both Family Tree DNA and 23andMe and downloading your match information to a spreadsheet and utilizing the tools at www.gedmatch.com and www.dnagedcom.com.

Just so you get an idea of how much fun this can be, here’s my genome mapped to ancestors a few months ago.  I have more mapped now, but haven’t redone my map utilizing Kitty Cooper’s Tools.

Roberta's ancestor map2

Tips and Tricks for Contact Success

Regardless of which of these goals you had when you tested, or have since developed, now that you know what you can do – most of the options are going to require you to do something – often contacting your matches.

One thing that doesn’t happen is that your new genealogy is not delivered to you gift wrapped and all you have to do is open the box, untie the bow around the scroll, and roll it down the hallway.  That only happens on the genealogy TV shows:)

So join me in a few days for part two of Autosomal DNA Testing 101 – Tips and Tricks for Contact Success.