Chromosome Browser War

There has been a lot of discussion lately, and I mean REALLY a lot, about chromosome browsers, the need or lack thereof, why, and what the information really means.

For the old timers in the field, we know the story, the reasons, and the backstory, but a lot of people don’t.  Not only are they only getting pieces of the puzzle, they’re confused about why there even is a puzzle.  I’ve been receiving very basic questions about this topic, so I thought I’d write an article about chromosome browsers, what they do for us, why we need them, how we use them and the three vendors, 23andMe, Ancestry and Family Tree DNA, who offer autosomal DNA products that provide a participant matching data base.

The Autosomal Goal

Autosomal DNA, which tests the part of your DNA that recombines between parents every generation, is utilized in genetic genealogy to do a couple of things.

  1. To confirm your connection to a specific ancestor through matches to other descendants.
  2. To break down genealogy brick walls.
  3. Determine ethnicity percentages which is not the topic of this article.

The same methodology is used for items 1 and 2.

In essence, to confirm that you share a common ancestor with someone, you need to either:

  1. Be a close relative – meaning you tested your mother and/or father and you match as expected. Or, you tested another known relative, like a first cousin, for example, and you also match as expected. These known relationships and matches become important in confirming or eliminating other matches and in mapping your own chromosomes to specific ancestors.
  2. A triangulated match to at least two others who share the same distant ancestor. This happens when you match other people whose tree indicates that you share a common ancestor, but they are not previously known to you as family.

Triangulation is the only way you can prove that you do indeed share a common ancestor with someone not previously identified as family.

In essence, triangulation is the process by which you match people who match you genetically with common ancestors through their pedigree charts.  I wrote about the process in this article “Triangulation for Autosomal DNA.”

To prove that you share a common ancestor with another individual, the DNA of  three proven descendants of that common ancestor must match at the same location.  I should add a little * to this and the small print would say, “ on relatively large segments.”  That little * is rather controversial, and we’ll talk about that in a little bit.  This leads us to the next step, which is if you’re a fourth person, and you match all three of those other people on that same segment, then you too share that common ancestor.  This is the process by which adoptees and those who are searching for the identity of a parent work through their matches to work forward in time from common ancestors to, hopefully, identify candidates for individuals who could be their parents.

Why do we need to do this?  Isn’t just matching our DNA and seeing a common ancestor in a pedigree chart with one person enough?  No, it isn’t.  I recently wrote about a situation where I had a match with someone and discovered that even though we didn’t know it, and still don’t know exactly how, we unquestionably share two different ancestral lines.

When you look at someone’s pedigree chart, you may see immediately that you share more than one ancestral line.  Your shared DNA could come from either line, both lines, or neither line – meaning from an unidentified common ancestor.  In genealogy parlance, those are known as brick walls!

Blaine Bettinger wrote about this scenario in his now classic article, “Everyone Has Two Family Trees – A Genealogical Tree and a Genetic Tree.”

Proving a Match

The only way to prove that you actually do share a genealogy relative with someone that is not a known family member is to triangulate.  This means searching other matches with the same ancestral surname, preferably finding someone with the same proven ancestral tree, and confirming that the three of you not only share matching DNA, but all three share the same matching DNA segments.  This means that you share the same ancestor.

Triangulation itself is a two-step process followed by a third step of mapping your own DNA so that you know where various segments came from.  The first two triangulation steps are discovering that you match other people on a common segment(s) and then determining if the matches also match each other on those same segments.

Both Family Tree DNA and 23andMe, as vendors have provided ways to do most of this.  www.gedmatch.com and www.dnagedcom.com both augment the vendor offerings.  Ancestry provides no tools of this type – which is, of course, what has precipitated the chromosome browser war.

Let’s look at how the vendors products work in actual practice.

Family Tree DNA

1. Chromosome browser – do they match you?

Family Tree DNA makes it easy to see who you match in common with someone else in their matching tool, by utilizing the ICW crossed X icon.

chromosome browser war13

In the above example, I am seeing who I match in common with my mother.  Sure enough, our three known cousins are the closest matches, shown below.

chromosome browser war14

You can then push up to 5 individuals through to the chromosome browser to see where they match the participant.

The following chromosome browser is an example of a 4 person match showing up on the Family Tree DNA chromosome browser.

This example shows known cousins matching.  But this is exactly the same scenario you’re looking for when you are matching previously unknown cousins – the exact same technique.

In this example, I am the participant, so these matches are matches to me and my chromosome is the background chromosome displayed.  I have switched from my mother’s side to known cousins on my father’s side.

chromosome browser war1

The chromosome browser shows that these three cousins all match the person whose chromosomes are being shown (me, in this case), but it doesn’t tell you if they also match each other.  With known cousins, it’s very unlikely (in my case) that someone would match me from my mother’s side, and someone from my father’s side, but when you’re working with unknown cousins, it’s certainly possible.  If your parents are from the same core population, like Germans or an endogamous population, you may well have people who match you on both sides of your family.  Simply put, you can’t assume they don’t.

It’s also possible that the match is a genuine genealogical match, but you don’t happen to match on the exact same segments, so the ancestor can’t yet be confirmed until more cousins sharing that same ancestral line are found who do match, and it’s possible that some segments could be IBS, identical by state, meaning matches by chance, especially small segments, below the match threshold.

2. Matrix – do they match each other?

Family Tree DNA also provides a tool called the Matrix where you can see if all of the people who match on the same segment, also match each other at some place on their DNA.

chromosome browser war2

The Matrix tool measures the same level of DNA as the default chromosome browser, so in the situation I’m using for an example, there is no issue.  However, if you drop the threshold of the match level, you may well, and in this case, you will, find matches well below the match threshold.  They are shown as matches because they have at least one segment above the match threshold.  If you don’t have at least one segment above the threshold, you’ll never see these smaller matches.  Just to show you what I mean, this is the same four people, above, with the threshold lowered to 1cM.  All those little confetti pieces of color are smaller matches.

chromosome browser war3

At Family Tree DNA, the match threshold is about 7cM.  Each of the vendors has a different threshold and a different way of calculating that threshold.

The only reason I mention this is because if you DON’T match with someone on the matrix, but you also show matches at smaller segments, understand that matrix is not reporting on those, so matrix matches are not negative proof, only positive indications – when you do match, both on the chromosome browser and utilizing the matrix tool.

What you do know at this point is that these individuals all match you on the same segments, and that they match each other someplace on their chromosomes, but what you don’t know is if they match each other on the same locations where they match you.

If you are lucky and your matches are cousins or experienced genetic genealogists and are willing to take a look at their accounts, they can tell you if they match the other people on the same segments where they match you – but that’s the only way to know unless they are willing to download their raw data file to GedMatch.  At GedMatch, you can adjust the match thresholds to any level you wish and you can compare one-to-one kits to see where any two kits who have provided you with their kit number match each other.

3. Downloading data – mapping your chromosome.

The “download to Excel” function at Family Tree DNA, located just above the chromosome browser graphic, on the left, provides you with the matching data of the individuals shown on the chromosome browser with their actual segment data shown. (The download button on the right downloads all of your matches, not just the ones shown in the browser comparison.)

The spreadsheet below shows the downloaded data for these four individuals.  You can see on chromosome 15 (yellow) there are three distinct segments that match (pink, yellow and blue,) which is exactly what is reflected on the graphic browser as well.

chromosome browser war4

On the spreadsheet below, I’ve highlighted, in red, the segments which appeared on the original chromosome browser – so these are only the matches at or over the match threshold.

chromosome browser war5

As you can see, there are 13 in total.

Smaller Segments

Up to this point, the process I’ve shared is widely accepted as the gold standard.

In the genetic genealogy community, there are very divergent opinions on how to treat segments below the match threshold, or below even 10cM.  Some people “throw them away,” in essence, disregard them entirely.  Before we look at a real life example, let’s talk about the challenges with small segments.

When smaller segments match, along with larger segments, I don’t delete them, throw them away, or disregard them.  I believe that they are tools and each one carries a message for us.  Those messages can be one of four things.

  1. This is a valid IBD, meaning identical by descent, match where the segment has been passed from one specific ancestor to all of the people who match and can be utilized as such.
  2. This is an IBS match, meaning identical by state, and is called that because we can’t yet identify the common ancestor, but there is one. So this is actually IBD but we can’t yet identify it as such. With more matches, we may well be able to identify it as IBD, but if we throw it away, we never get that chance. As larger data bases and more sophisticated software become available, these matches will fall into place.
  3. This is an IBS match that is a false match, meaning the DNA segments that we receive from our father and mother just happen to align in a way that matches another person. Generally these are relatively easy to determine because the people you match won’t match each other. You also won’t tend to match other people with the same ancestral line, so they will tend to look like lone outliers on your match spreadsheets, but not always.
  4. This is an IBS match that is population based. These are much more difficult to determine, because this is a segment that is found widely in a population. The key to determining these pileup areas, as discussed in the Ancestry article about their new phasing technique, if that you will find this same segment matching different proven lineages. This is the reason that Ancestry has implemented phasing – to identify and remove these match regions from your matches. Ancestry provided a graphic of my pileup areas, although they did not identify for me where on my chromosomes these pileup regions occurred. I do have some idea however, because I’ve found a couple of areas where I have matches from my mother’s side of the family from different ancestors – so these areas must be IBS on a population level. That does not, however, make them completely irrelevant.

genome pileups

The challenge, and problem, is where to make the cutoff when you’re eliminating match areas based on phased data.  For example, I lost all of my Acadian matches at Ancestry.  Of course, you would expect an endogamous population to share lots of the same DNA – and there are a huge number of Acadian descendants today – they are in fact a “population,” but those matches are (were) still useful to me.

I utilize Acadian matches from Family Tree DNA and 23andMe to label that part of my chromosome “Acadian” even if I can’t track it to a specific Acadian ancestor, yet.  I do know from which of my mother’s ancestors it originated, her great-grandfather, who is her Acadian ancestor.  Knowing that much is useful as well.

The same challenge exists for other endogamous groups – people with Jewish, Mennonite/Brethren/Amish, Native American and African American heritage searching for their mixed race roots arising from slavery.  In fact, I’d go so far as to say that this problem exists for anyone looking for ancestors beyond the 5th or 6th generation, because segments inherited from those ancestors, if there are any, will probably be small and fall below the generally accepted match thresholds.  The only way you will be able to find them, today, is the unlikely event that there is one larger segments, and it leads you on a search, like the case with Sarah Hickerson.

I want to be very clear – if you’re looking for only “sure thing” segments – then the larger the matching segment, the better the odds that it’s a sure thing, a positive, indisputable, noncontroversial match.  However, if you’re looking for ancestors in the distant past, in the 5th or 6th generation or further, you’re not likely to find sure thing matches and you’ll have to work with smaller segments. It’s certainly preferable and easier to work with large matches, but it’s not always possible.

In the Ralph and Coop paper, The Geography of Recent Genetic Ancestry Across Europe, they indicated that people who matched on segments of 10cM or larger were more likely to have a common ancestor with in the past 500 years.  Blocks of 4cM or larger were estimated to be from populations from 500-1500 years ago.  However, we also know that there are indeed sticky segments that get passed intact from generation to generation, and also that some segments don’t get divided in a generation, they simply disappear and aren’t passed on at all.  I wrote about this in my article titled, Generational Inheritance.

Another paper by Durand et al, Reducing pervasive false positive identical-by-descent segments detected by large-scale pedigree analysis, showed that 67% of the 2-4cM segments were false positives.  Conversely, that also means that 33% of the 2-4cM segments were legitimate IBD segments.

Part of the disagreement within the genetic genealogy community is based on a difference in goals.  People who are looking for the parents of adoptees are looking first and primarily as “sure thing” matches and the bigger the match segment, of course, the better because that means the people are related more closely in time.  For them, smaller segments really are useless.  However, for people who know their recent genealogy and are looking for those brick wall ancestors, several generations back in time, their only hope is utilizing those smaller segments.  This not black and white but shades of grey.  One size does not fit all.  Nor is what we know today the end of the line.  We learn every single day and many of our learning experiences are by working through our own unique genealogical situations – and sharing our discoveries.

On this next spreadsheet, you can see the smaller segments surrounding the larger segments – in other words, in the same match cluster – highlighted in green.  These are the segments that would be discarded as invalid if you were drawing the line at the match threshold.  Some people draw it even higher, at 10 cM.  I’m not being critical of their methodology or saying they are wrong.  It may well work best for them, but discarding small segments is not the only approach and other approaches do work, depending on the goals of the researcher.  I want my 33% IBD segments, thank you very much.

All of the segments highlighted in purple match between at least three cousins.  By checking the other cousins accounts, I can validate that they do all match each other as well, even though I can’t tell this through the Family Tree DNA matrix below the matching threshold.  So, I’ve proven these are valid.  We all received them from our common ancestor.

What about the white rows?  Are those valid matches, from a common ancestor?  We don’t have enough information to make that determination today.

chromosome browser war6

Downloading my data, and confirming segments to this common ancestor allows me to map my own chromosomes.  Now, I know that if someone matches me and any of these three cousins on chromosome 15, for example, between 33,335,760 and 58,455,135 – they are, whether they know it or not, descended from our common ancestral line.

In my opinion, I would think it a shame to discount or throw away all of these matches below 7cM, because you would be discounting 39 of your 52 total matches, or 75% of them.  I would be more conservative in assigning my segments with only one cousin match to any ancestor, but I would certainly note the match and hope that if I added other cousins, that segment would be eventually proven as IBD.

I used positively known cousins in this example because there is no disputing the validity of these matches.  They were known as cousins long before DNA testing.

Breaking Down Brick Walls

This is the same technique utilized to break down brick walls – and the more cousins you have tested, so that you can identify the maximum number of chromosome pieces of a particular ancestor – the better.

I used this same technique to identify Sarah Hickerson in my Thanksgiving Day article, utilizing these same cousins, plus several more.

Hey, just for fun, want to see what chromosome 15 looks like in this much larger sample???

In this case, we were trying to break down a brick wall.  We needed to determine if Sarah Hickerson was the mother of Elijah Vannoy.  All of the individuals in the left “Name” column are proven Vannoy cousins from Elijah, or in one case, William, from another child of Sarah Hickerson.  The individuals in the right “Match” column are everyone in the cousin match group plus the people in green who are Hickerson/Higginson descendants.  William, in green, is proven to descend from Sarah Hickerson and her husband, Daniel Vannoy.

chromosome browser war7

The first part of chromosome 15 doesn’t overlap with the rest.  Buster, David and I share another ancestral line as well, so the match in the non-red section of chromosome 15 may well be from that ancestral line.  It becomes an obvious possibility, because none of the people who share the Vannoy/Hickerson/Higginson DNA are in that small match group.

All of the red colored cells do overlap with at least one other individual in that group and together they form a cluster.  The yellow highlighted cells are the ones over the match threshold.  The 6 Hickerson/Higginson descendants are scattered throughout this match group.

And yes, for those who are going to ask, there are many more Vannoy/Hickerson triangulated groups.  This is just one of over 60 matching groups in total, some with matches well above the match threshold. But back to the chromosome browser wars!

23andMe

This example from 23andMe shows why it’s so very important to verify that your matches also match each other.

chromosome browser war8

Blue and purple match segments are to two of the same cousins that I used in the comparison at Family Tree DNA, who are from my father’s side.  Green is my first cousin from my mother’s side.   Note that on chromosome 11, they both match me on a common segment.  I know by working with them that they don’t match each other on that segment, so while they are both related to me, on chromosome 11, it’s not through the same ancestor.  One is from my father’s side and one is from my mother’s side.  If I hadn’t already known that, determining if they matched each other would be the acid test and would separate them into 2 groups.

23andMe provides you with a tool to see who your matches match that you match too.  That’s a tongue twister.

In essence, you can select any individual, meaning you or anyone that you match, on the left hand side of this tool, and compare them to any 5 other people that you match.  In my case above, I compared myself to my cousins, but if I want to know if my cousin on my mother’s side matches my two cousins on my father’s side, I simply select her name on the left and theirs on the right by using the drop down arrows.

chromosome browser war9

I would show you the results, but it’s in essence a blank chromosome browser screen, because she doesn’t match either of them, anyplace, which tells me, if I didn’t already know, that these two matches are from different sides of my family.

However, in other situations, where I match my cousin Daryl, for example, as well as several other people on the same segment, I want to know how many of these people Daryl matches as well.  I can enter Daryl’s name, with my name and their names in the group of 5, and compare.  23andMe facilitates the viewing or download of the results in a matrix as well, along with the segment data.  You can also download your entire list of matches by requesting aggregated data through the link at the bottom of the screen above or the bottom of the chromosome display.

I find it cumbersome to enter each matches name in the search tool and then enter all of the other matches names as well.  By utilizing the tools at www.dnagedcom.com, you can determine who your matches match as well, in common with you, in one spreadsheet.  Here’s an example.  Daryl in the chart below is my match, and this tool shows you who else she matches that I match as well, and the matching segments.  This allows me to correlate my match with Gwen for example, to Daryl’s match to Gwen to see if they are on the same segments.

chromosome browser war10

As you can see, Daryl and I both match Gwen on a common segment.  On my own chromosome mapping spreadsheet, I match several other people as well at that location, at other vendors, but so far, we haven’t been able to find any common genealogy.

Ancestry.com

At Ancestry.com, I have exactly the opposite problem.  I have lots of people I DNA match, and some with common genealogy, but no tools to prove the DNA match is to the common ancestor.

Hence, this is the crux of the chromosome browser wars.  I’ve just showed you how and why we use chromosome browsers and tools to show if our matches match each other in addition to us and on which segments.  I’ve also illustrated why.  Neither 23andMe nor Family Tree DNA provides perfect tools, which is why we utilize both GedMatch and DNAGedcom, but they do provide tools.  Ancestry provides no tools of this type.

At Ancestry, you have two kinds of genetic matches – ones without tree matches and ones with tree matches.  Pedigree matching is a service that Ancestry provides that the other vendors don’t.  Unfortunately, it also leads people to believe that because they match these people genetically and share a tree, that the tree shown is THE genetic match and it’s to the ancestor shown in the tree.  In fact, if the tree is wrong, either your tree or their tree, and you match them genetically, you will show up as a pedigree match as well.  Even if both pedigrees are right, that still doesn’t mean that your genetic match is through that ancestor.

How many bad trees are at Ancestry percentagewise?  I don’t know, but it’s a constant complaint and there is absolutely nothing Ancestry can do about it.  All they can do is utilize what they have, which is what their customers provide.  And I’m glad they do.  It does make the process of working through your matches much easier. It’s a starting point.  DNA matches with trees that also match your pedigree are shown with Ancestry’s infamous shakey leaf.

In fact, in my Sarah Hickerson article, it was a shakey leaf match that initially clued me that there was something afoot – maybe. I had to shift to another platform (Family Tree DNA) to prove the match however, where I had tools and lots of known cousins.

At Ancestry, I now have about 3000 matches in total, and of those, I have 33 shakey leaves – or people with whom I also share an ancestor in our pedigree charts.  A few of those are the same old known cousins, just as genealogy crazy as me, and they’ve tested at all 3 companies.

The fly in the ointment, right off the bat, is that I noticed in several of these matches that I ALSO share another ancestral line.

Now, the great news is that Ancestry shows you your surnames in common, and you can click on the surname and see the common individuals in both trees.

The bad news is that you have to notice and click to see that information, found in the lower left hand corner of this screen.

chromosome browser war11

In this case, Cook is an entirely different line, not connected to the McKee line shown.

However, in this next case, we have the same individual entered in our software, but differently.  It wasn’t close enough to connect as an ancestor, but close enough to note.  It turns out that Sarah Cook is the mother of Fairwick Claxton, but her middle name was not Helloms, nor was her maiden name, although that is a long-standing misconception that was proven incorrect with her husband’s War of 1812 documents many years ago. Unfortunately, this misinformation is very widespread in trees on the internet.

chromosome browser war12

Out of curiosity, and now I’m sorry I did this because it’s very disheartening – I looked to see what James Lee Claxton/Clarkson’s wife’s name was shown to be on the first page of Ancestry’s advanced search matches.

Despite extensive genealogical and DNA research, we don’t know who James Lee Claxton/Clarkson’s parents are, although we’ve disproven several possibilities, including the most popular candidate pre-DNA testing.  However, James’ wife was positively Sarah Cook, as given by her, along with her father’s name, and by witnesses to their marriage provided when she applied for a War of 1812 pension and bounty land.  I have the papers from the National Archives.

James Lee Claxton’s wife, Sara Cook is identified as follows in the first 50 Ancestry search entries.

Sarah Cook – 4

Incorrect entries:

  • Sarah Cook but with James’ parents listed – 3
  • Sarah Helloms Cook – 2, one with James’ parents
  • Sarah Hillhorns – 15
  • Sarah Cook Hitson – 13, some with various parents for James
  • No wife, but various parents listed for James – 12
  • No wife, no parents – 1

I’d much rather see no wife and no parents than incorrect information.

Judy Russell has expressed her concern about the effects of incorrect trees and DNA as well and we shared this concern with Ancestry during our meeting.

Ancestry themselves in their paper titled “Identifying groups of descendants using pedigrees and genetically inferred relationships in a large database” says, “”As with all analyses relating to DNA Circles™, tree quality is also an important caveat and limitation.”  So Ancestry is aware, but they are trying to leverage and utilize one of their biggest assets, their trees.

This brings us to DNA Circles.  I reviewed Ancestry’s new product release extensively in my Ancestry’s Better Mousetrap article.  To recap briefly, Ancestry gathers your DNA matches together, and then looks for common ancestors in trees that are public using an intelligent ranking algorithm that takes into account:

  1. The confidence that the match is due to recent genealogical history (versus a match due to older genealogical history or a false match entirely).
  2. The confidence that the identified common recent ancestor represents the same person in both online pedigrees.
  3. The confidence that the individuals have a match due to the shared ancestor in question as opposed to from another ancestor or from more distant genealogical history.

The key here is that Ancestry is looking for what they term “recent genealogical history.”  In their paper they define this as 10 generations, but the beta version of DNA Circles only looks back 7 generations today.  This was also reflected in their phasing paper, “Discovering IBD matches across a large, growing database.”

However, the unfortunate effect has been in many cases to eliminate matches, especially from endogamous groups.  By way of example, I lost my Acadian matches in the Ancestry new product release.  They would have been more than 7 generations back, and because they were endogamous, they may have “looked like” IBS segments, if IBS is defined at Ancestry as more than 7 or 10 generations back.  Hopefully Ancestry will tweek this algorithm in future releases.

Ancestry, according to their paper, “Identifying groups of descendants using pedigrees and genetically inferred relationships in a large database,” then clusters these remaining matching individuals together in Circles based on their pedigree charts.  You will match some of these people genetically, and some of them will not match you but will match each other.  Again, according to the paper, “these confidence levels are calculated by the direct-line pedigree size, the number of shared ancestral couples and the generational depth of the shared MRCA couple.”

Ancestry notes that, “using the concordance of two independent pieces of information, meaning pedigree relationships and patterns of match sharing among a set of individuals, DNA Circles can serve as supporting evidence for documented pedigree lines.”  Notice, Ancestry did NOT SAY proof.  Nothing that Ancestry provides in their DNA product constitutes proof.

Ancestry continues by saying that Circles “opens the possibility for people to identify distant relatives with whom they do not share DNA directly but with whom they still have genetic evidence supporting the relationship.”

In other words, Ancestry is being very clear in this paper, which is provided on the DNA Circles page for anyone with Circles, that they are giving you a tool, not “the answer,” but one more piece of information that you can consider as evidence.

joel vannoy circleJoel Vannoy circle2

You can see in my Joel Vannoy circle that I match both of these people both genetically and on their tree.

We, in the genetic genealogy community, need proof.  It certainly could be available, technically – because it is with other vendors and third party sites.

We need to be able to prove that our matches also match each other, and utilizing Ancestry’s tools, we can’t.  We also can’t do this at Ancestry by utilizing third party tools, so we’re in essence, stuck.

We can either choose to believe, without substantiation, that we indeed share a common ancestor because we share DNA segments with them plus a pedigree chart from that common ancestor, or we can initiate a conversation with our match that leads to either or both of the following questions:

  1. Have you or would you upload your raw data to GedMatch?
  2. Have you or would you upload your raw data file to Family Tree DNA?

Let the begging begin!!!

The Problem

In a nutshell, the problem is that even if your Ancestry matches do reply and do upload their file to either Family Tree DNA or GedMatch or both, you are losing most of the potential information available, or that would be available, if Ancestry provided a chromosome browser and matrix type tool.

In other words, you’d have to convince all of your matches and then they would have to convince all of the matches in the circle that they match and you don’t to upload their files.

Given that, of the 44 private tree shakey leaf matches that I sent messages to about 2 weeks ago, asking only for them to tell me the identity of our common pedigree ancestor, so far 2 only of them have replied, the odds of getting an entire group of people to upload files is infinitesimal.  You’d stand a better chance of winning the lottery.

One of the things Ancestry excels at is marketing.

ancestry ad1

If you’ve seen any of their ads, and they are everyplace, they focus on the “feel good” and they are certainly maximizing the warm fuzzy feelings at the holidays and missing those generations that have gone before us.

ancestry ad2

This is by no means a criticism, but it is why so many people do take the Ancestry DNA test. It’s advertised as easy and you’ll learn more about your family.  And you do, no question – you learn about your ethnicity and you get a list of DNA matches, pedigree matches when possible and DNA Circles.

The list of what you don’t get is every bit as important, a chromosome browser and tools to see whether your matches also match each other.  However, most of their customers will never know that.

Judging by the high percentage of inaccurate trees I found at Ancestry in my little experiment relative to the known and documented wife’s name of James Lee Claxton, which was 96%, based on just the first page of 50 search matches, it would appear that about 96% of Ancestry’s clientele are willing to believe something that someone else tells them without verification.  I doubt that it matters whether that information is a tree or a DNA test where they are shown  matches with common pedigree charts and circles.  I don’t mean this to be critical of those people.  We all began as novices and we need new people to become interested in both genealogy and DNA testing.

I suspect that most of Ancestry’s clients, especially new ones, simply don’t have a clue that there is a problem, let alone the magnitude and scope.  How would they?  They are just happy to find information about their ancestor.  And as someone said to me once – “but there are so many of those trees (with a wrong wife’s name), how can they all be wrong?”  Plus, the ads, at least some of them, certainly suggest that the DNA test grows your family tree for you.

ancestry ad3 signoff

The good news in all of this is that Ancestry’s widespread advertising has made DNA testing just part of the normal things that genealogists do.  Their marketing expertise along with recent television programs have served to bring DNA testing into the limelight. The bad news is that if people test at Ancestry instead of at a vendor who provides tools, we, and they, lose the opportunity to utilize those results to their fullest potential.  We, and they, lose any hope of proving an ancestor utilizing DNA.  And let’s face it, DNA testing and genealogy is about collaboration.  Having a DNA test that you don’t compare against others is pointless for genealogy purposes.

When a small group of bloggers and educators visited Ancestry in October, 2014, for what came to be called DNA Day, we discussed the chromosome browser and Ancestry’s plans for their new DNA Circles product, although it had not yet been named at that time.  I wrote about that meeting, including the fact that we discussed the need for a chromosome browser ad nauseum.  Needless to say, there was no agreement between the genetic genealogy community and the Ancestry folks.

When we discussed the situation with Ancestry they talked about privacy and those types of issues, which you can read about in detail in that article, but I suspect, strongly, that the real reason they aren’t keen on developing a chromosome browser lies in different areas.

  1. Ancestry truly believes that people cannot understand and utilize a chromosome browser and the information it provides. They believe that people who do have access to chromosome browsers are interpreting the results incorrectly today.
  2. They do not want to implement a complex feature for a small percentage of their users…the number bantered around informally was 5%…and I don’t know if that was an off-the-cuff number or based on market research. However, if you compare that number with the number of accurate versus inaccurate pedigree charts in my “James Claxton’s wife’s name” experiment, it’s very close…so I would say that the 5% number is probably close to accurate.
  3. They do not want to increase their support burden trying to explain the results of a chromosome browser to the other 95%. Keep in mind the number of users you’re discussing. They said in their paper they had 500,000 DNA participants. I think it’s well over 700,000 today, and they clearly expect to hit 1 million in 2015. So if you utilize a range – 5% of their users are 25,000-50,000 and 95% of their users are 475,000-950,000.
  4. Their clients have already paid their money for the test, as it is, and there is no financial incentive for Ancestry to invest in an add-on tool from which they generate no incremental revenue and do generate increased development and support costs. The only benefit to them is that we shut up!

So, the bottom line is that most of Ancestry’s clients don’t know or care about a chromosome browser.  There are, however, a very noisy group of us who do.

Many of Ancestry’s clients who purchase the DNA test do so as an impulse purchase with very little, if any, understanding of what they are purchasing, what it can or will do for them, at Ancestry or anyplace else, for that matter.

Any serious genealogist who researched the autosomal testing products would not make Ancestry their only purchase, especially if they could only purchase one test.  Many, if not most, serious genealogists have tested at all three companies in order to fish in different ponds and maximize their reach.  I suspect that most of Ancestry’s customers are looking for simple and immediate answers, not tools and additional work.

The flip side of that, however, if that we are very aware of what we, the genetic genealogy industry needs, and why, and how frustratingly lacking Ancestry’s product is.

Company Focus

It’s easy for us as extremely passionate and focused consumers to forget that all three companies are for-profit corporations.  Let’s take a brief look at their corporate focus, history and goals, because that tells a very big portion of the story.  Every company is responsible first and foremost to their shareholders and owners to be profitable, as profitable as possible which means striking the perfect balance of investment and expenditure with frugality.  In corporate America, everything has to be justified by ROI, or return on investment.

Family Tree DNA

Family Tree DNA was the first one of the companies to offer DNA testing and was formed in 1999 by Bennett Greenspan and Max Blankfeld, both still principles who run Family Tree DNA, now part of Gene by Gene, on a daily basis.  Family Tree DNA’s focus is only on genetic genealogy and they have a wide variety of products that produce a spectrum of information including various Y DNA tests, mitochondrial, autosomal, and genetic traits.  They are now the only commercial company to offer the Y STR and mitochondrial DNA tests, both very important tools for genetic genealogists, with a great deal of information to offer about our ancestors.

In April 2005, National Geographic’s Genographic project was announced in partnership with Family Tree DNA and IBM.  The Genographic project, was scheduled to last for 5 years, but is now in its 9th year.  Family Tree DNA and National Geographic announced Geno 2.0 in July of 2012 with a newly designed chip that would test more than 12,000 locations on the Y chromosome, in addition to providing other information to participants.

The Genographic project provided a huge boost to genetic genealogy because it provided assurance of legitimacy and brought DNA testing into the living room of every family who subscribed to National Geographic magazine.  Family Tree DNA’s partnership with National Geographic led to the tipping point where consumer DNA testing became mainstream.

In 2011 the founders expanded the company to include clinical genetics and a research arm by forming Gene by Gene.  This allowed them, among other things, to bring their testing in house by expanding their laboratory facilities.  They have continued to increase their product offerings to include sophisticated high end tests like the Big Y, introduced in 2013.

23andMe

23andMe is also privately held and began offering testing for medical and health information in November 2007, initially offering “estimates of predisposition for more than 90 traits ranging from baldness to blindness.”  Their corporate focus has always been in the medical field, with aggregated customer data being studied by 23andMe and other researchers for various purposes.

In 2009, 23andMe began to offer the autosomal test for genealogists, the first company to provide this service.  Even though, by today’s standards, it was very expensive, genetic genealogists flocked to take this test.

In 2013, after several years of back and forth with 23andMe ultimately failing to reply to the FDA, the FDA forced 23andMe to stop providing the medical results.  Clients purchasing the 23andMe autosomal product since November of 2013 receive only ethnicity results and the genealogical matching services.

In 2014, 23andMe has been plagued by public relations issues and has not upgraded significantly nor provided additional tools for the genetic genealogy community, although they recently formed a liaison with My Heritage.

23andMe is clearly focused on genetics, but not primarily genetic genealogy, and their corporate focus during this last year in particular has been, I suspect, on how to survive, given the FDA action.  If they steer clear of that landmine, I expect that we may see great things in the realm of personalized medicine from them in the future.

Genetic genealogy remains a way for them to attract people to increase their data base size for research purposes.  Right now, until they can again begin providing health information, genetic genealogists are the only people purchasing the test, although 23andMe may have other revenue sources from the research end of the business

Ancestry.com

Ancestry.com is a privately held company.  They were founded in the 1990s and have been through several ownership and organizational iterations, which you can read about in the wiki article about Ancestry.

During the last several years, Ancestry has purchased several other genealogy companies and is now the largest for-profit genealogy company in the world.  That’s either wonderful or terrible, depending on your experiences and perspective.

Ancestry has had an on-again-off-again relationship with DNA testing since 2002, with more than one foray into DNA testing and subsequent withdrawal from DNA testing.  If you are interested in the specifics, you can read about them in this article.

Ancestry’s goal, as it is with all companies, is profitability.  However, they have given themselves a very large black eye in the genetic genealogy community by doing things that we consider to be civically irresponsible, like destroying the Y and mitochondrial DNA data bases.  This still makes no sense, because while Ancestry spends money on one hand to acquire data bases and digitize existing records, on the other hand, they wiped out a data base containing tens of thousands of irreplaceable DNA records, which are genealogy records of a different type.  This was discussed at DNA Day and the genetic genealogy community retains hope that Ancestry is reconsidering their decision.

Ancestry has been plagued by a history of missteps and mediocrity in their DNA products, beginning with their Y and mitochondrial DNA products and continuing with their autosomal product.  Their first autosomal release included ethnicity results that gave many people very high percentages of Scandinavian heritage.  Ancestry never acknowledged a problem and defended their product to the end…until the day when they announced an update titled….a whole new you.  They are marketing geniuses.  While many people found their updated product much more realistic, not everyone was happy.  Judy Russell wrote a great summary of the situation.

It’s difficult, once a company has lost their credibility, for them to regain it.

I think Ancestry does a bang up job of what their primary corporate goal is….genealogy records and subscriptions for people to access those records. I’m a daily user.  Today, with their acquisitions, it would be very difficult to be a serious genealogist without an Ancestry subscription….which is of course what their corporate goal has been.

Ancestry does an outstanding job of making everything look and appear easy.  Their customer interface is intuitive and straightforward, for the most part. In fact, maybe they have made both genealogy and genetic genealogy look a little too easy.  I say this tongue in cheek, full well knowing that the ease of use is how they attract so many people, and those are the same people who ultimately purchase the DNA tests – but the expectation of swabbing and the answer appearing is becoming a problem.  I’m glad that Ancestry has brought DNA testing to so many people but this success makes tools like the chromosome browser/matrix that much more important – because there is so much genealogy information there just waiting to be revealed.  I also feel that their level of success and visibility also visits upon them the responsibility for transparency and accuracy in setting expectations properly – from the beginning – with the ads. DNA testing does not “grow your tree” while you’re away.

I’m guessing Ancestry entered the DNA market again because they saw a way to sell an additional product, autosomal DNA testing, that would tie people’s trees together and provide customers with an additional tool, at an additional price, and give them yet another reason to remain subscribed every year.  Nothing wrong with that either.  For the owners, a very reasonable tactic to harness a captive data base whose ear you already have.

But Ancestry’s focus or priority is not now, and never has been, quality, nor genetic genealogy.  Autosomal DNA testing is a tool for their clients, a revenue generation source for them, and that’s it.  Again, not a criticism.  Just the way it is.

In Summary

As I look at the corporate focus of the three players in this space, I see three companies who are indeed following their corporate focus and vision.  That’s not a bad thing, unless the genetic genealogy community focus finds itself in conflict with the results of their corporate focus.

It’s no wonder that Family Tree DNA sponsors events like the International DNA Conference and works hand in hand with genealogists and project administrators.  Their focus is and always has been genetic genealogy.

People do become very frustrated with Family Tree DNA from time to time, but just try to voice those frustrations to upper management at either 23andMe or Ancestry and see how far you get.  My last helpdesk query to 23andMe submitted on October 24th has yet to receive any reply.  At Family Tree DNA, I e-mailed the project administrator liaison today, the Saturday after Thanksgiving, hoping for a response on Monday – but I received one just a couple hours later – on a holiday weekend.

In terms of the chromosome browser war – and that war is between the genetic genealogy community and Ancestry.com, I completely understand both positions.

The genetic genealogy community has been persistent, noisy, and united.  Petitions have been created and signed and sent to Ancestry upper management.  To my knowledge, confirmation of any communications surrounding this topic with the exception of Ancestry reaching out to the blogging and education community, has never been received.

This lack of acknowledgement and/or action on the issues at hand frustrates the community terribly and causes reams of rather pointed and very direct replies to Anna Swayne and other Ancestry employees who are charged with interfacing with the public.  I actually feel sorry for Anna.  She is a very nice person.  If I were in her position, I’d certainly be looking for another job and letting someone else take the brunt of the dissatisfaction.  You can read her articles here.

I also understand why Ancestry is doing what they are doing – meaning their decision to not create a chromosome browser/match matrix tool.  It makes sense if you sit in their seat and now have to look at dealing with almost a million people who will wonder why they have to use a chromosome browser and or other tools when they expected their tree to grow while they were away.

I don’t like Ancestry’s position, even though I understand it, and I hope that we, as a community, can help justify the investment to Ancestry in some manner, because I fully believe that’s the only way we’ll ever get a chromosome browser/match matrix type tool.  There has to be a financial benefit to Ancestry to invest the dollars and time into that development, as opposed to something else.  It’s not like Ancestry has additional DNA products to sell to these people.  The consumers have already spent their money on the only DNA product Ancestry offers, so there is no incentive there.

As long as Ancestry’s typical customer doesn’t know or care, I doubt that development of a chromosome browser will happen unless we, as a community, can, respectfully, be loud enough, long enough, like an irritating burr in their underwear that just won’t go away.

burr

The Future

What we “know” and can do today with our genomes far surpasses what we could do or even dreamed we could do 10 years ago or even 5 or 2 years ago.  We learn everyday.

Yes, there are a few warts and issues to iron out.  I always hesitate to use words like “can’t,” “never” and “always” or to use other very strongly opinionated or inflexible words, because those words may well need to be eaten shortly.

There is so much more yet to be done, discovered and learned.  We need to keep open minds and be willing to “unlearn” what we think we knew when new and better information comes along.  That’s how scientific discovery works.  We are on the frontier, the leading edge and yes, sometimes the bleeding edge.  But what a wonderful place to be, to be able to contribute to discovery on a new frontier, our own genes and the keys to our ancestors held in our DNA.

Introducing the Autosomal DNA Segment Analyzer

We have a brand new toy in our DNA sandbox today, thanks to Don Worth, a retired IT professional.  I just love it when extremely talented people retire and we, in the genetic genealogy community, are the benefactors of their Act 2 evolution.  Our volunteers make such a cumulative difference.

Drum Roll please.

Introducing…..the Autosomal DNA Segment Analyzer, or ADSA.

The name alone doesn’t make your heart skip beats, but the product will.  This tool absolutely proves the adage that a picture is worth 1000 words.

Don described his new tool, which, by the way, is free and being hosted by Rob Warthen at www.dnagedcom.com, thus:

I created this tool in an attempt to put all the relevant information available that was needed to evaluate segment matches on a single, interactive web page. It relies on the three files for a single test kit that DNAgedcom.com collects from FamilyTreeDNA.com. These files include information about your matches, matching segment locations and sizes, and “in common with” (ICW) data. Using these files, the tool will construct a table for each chromosome which includes match and segment information as well as a visual graph of overlapping segments, juxtiposed with a customized, color-coded ICW matrix that will permit you to triangulate matching segments without having to look in multiple spreadsheets or on different screens in FamilyTreeDNA. Additional information, such as ancestral surnames, suggested relationship ranges, and matching segments and ICWs on other chromosomes is provided by hovering over match names or segments on the screen. Emails to persons you match may also be generated from the page. The web page produced by this program does not depend on any other files and may be saved as a stand-alone .html file that will function locally (or offline) in your browser. You can even email it to your matches as an attachment. You can play with a working sample output here.

Who wants to play with sample output?  I wanted to jump right in.  Word of caution…read the instructions FIRST, and pay attention, or you’ll wind up downloading your files twice.  The instructions can be found here.

I can’t tell you how many times, when I’ve been working with matches, that I’ve wondered to myself, “How many other people match us on this segment?”  For quite a while you could only download 5 people at a time, but now you can download the entire data file.  I’m a visual person.  To me, visually seeing is believing and the ADSA makes this process so much easier.  Truly, a picture is worth 1000 words.

I knew right away there were three things I wanted to do, so I’m going to run through each one of the three by way of examples to illustrate what you can do with the power of this wonderfully visual tool.  I’ve also anonymized the matches.

1. Clusters of matches.

I know I’ve told you that I’m mapping my DNA to ancestors.  When I first saw Don’s output, I knew immediately that this tool would be invaluable for grouping people from the same ancestral lines.

Barbara, the second row, is my mother and her DNA in this equation is extremely useful.  It helps me identify right away which side of my family a match comes from.  If you don’t have a parent available, aunts, uncles, cousins, all help, especially cumulatively.

Before we begin working with the results, take a minute and just sit and look at the graphic below.  These two clusters shown on this page, one near the top and the other at the bottom….they represent your ancestors.  Two very different ones in this case. This may be the only way you’ll ever “see” them, by virtue of a group of their descendants DNA clustered together.  A view through the keyhole of time provided by DNA. Isn’t it beautiful?

adsa cluster 1

All of these results in this “cluster of matches” example are my matches.  In other words, the file is mine and these are people who are matching me.  You can see that this tool provides us with start and end segments, total cMs and SNPs, and e-mails, but the true power is in the visual representation of the ICW (in common with) matrix.  The mapped segments are a nice touch too, and Don has listed these in progressive order, meaning from beginning to end of the segment (left to right.)

Look at this initial clustered group, shown enlarged below.  The first individual matches me and mother on one pink segment, but matches me on two segments, a pink and a black.  That means he’s from Mom’s side, or at least through one line, but probably somewhat distant since that one segment is his only match on any chromosome.  Because he also matches me on a segment where he doesn’t match Mom, he could also be related to me on my father’s side, or maybe we had a misread error on the black segment when comparing to Mom’s DNA. It is the adjoining segment.  In essence, there isn’t enough information to do much with this, except ask questions, so let’s move on to something more informative.

Beginning with the third person, the next grouping or cluster is entirely non-matching to mother, so this entire cluster is from my father’s side AND related to each other.

There are 6 solid matches here, and then they start to trail off to matches that aren’t so solid.

ADSA cluster 1 A

By flying over the match names with my cursor, I might be able to tell, based on their surnames, which line is being represented by this cluster of matches.  If I already have a confirmed cousin match in the group, then the rest of the group can be loosely attributed to that line, or a contributing (wife) line. Unfortunately, in this case, I can’t tell other than it looks like it might be through Halifax County, VA.  I do have an NPE there and some wives without surnames.

Let’s look on down this chromosome.  There is another very solid cluster, also on my Dad’s side.  In this second cluster, I have identified a solid cousin and I can tell you that this is a Crumley grouping.  My common ancestor with my Crumley cousin is William Crumley born about 1765 in Frederick Co., Va. and who died about 1840 in Lee Co., Va.  His wife is unknown, but we have her mitochondrial DNA.  Now this doesn’t mean that everyone in this group will all have a Crumley ancestor, they may not.  They may instead have a Mercer, a Brown, a Johnson or a Gilkey, all known wives’ surnames of Crumley men upstream of William Crumley.  But someplace, there is a common ancestor who contributed quite a bit of chromosome 1 to a significant number of descendants, and at least two of them are Crumleys.

ADSA Crumley cluster

At first, I found it really odd that my mother had almost no matches with me on chromosome 1.  Some of my mother’s ancestors came to the States later, from the Netherlands and from Germany.  Many of these groups are under-represented in testing.  However other ancestral groups have been here a long time, Acadians and Brethren Germans.  My father’s Appalachian, meaning colonial, ancestors seem to have more descendants who have tested.

However, looking now at chromosome 9, we see something different.

ADSA Acadian cluster

The second person, Doris, doesn’t match Mom anyplace, so is obviously related through my father, but look at that next grouping.

I can tell you based on hovering over the matches name that this is an Acadian grouping.  The Acadians are a very endogamous French-Canadian group, having passed the same DNA around for hundreds of years.  Therefore, a grouping is likely to share a large amount of common DNA, and this one does.

ADSA Acadian flyover

Based on this, I can then label all of these various matches as “Acadian” if nothing more.

Within a cluster, if I can identify one common ancestor, I can attribute the entire large group to the same lineage.  Be careful with smaller groups or just one or two rectangle matches.  Those aren’t nearly as strong and just because I match 2 people on the same segment doesn’t mean they match each other. However, when you see large segments of people matching each other, you have an ancestral grouping of some sort.  The challenge of course is to identify the group – but a breakthrough with one match means a likely breakthrough with the rest of them too, or at least another step in that direction.

2. Source of DNA

I have several cousins who match me on two or more distinct lines.  This tool makes it easy, in some cases, to see which line the DNA on a particular chromosome comes from.

I have both Claxton (James Lee Claxton/Clarkson born c 1775-1815 and Sarah Cook of Hancock Co., TN)  and Campbell (John Campbell b c 1772-1838 and Jane Dobkins born c 1780-1850/1860 of Claiborne Co., Tn.) ancestry.  My cousins, Joy and William do too.  In this case, you can see that Joy matches a Claxton (proven by Y DNA to be from our line) and so does William on the first green matching segment.  The second green segment is not found in the Claxton match, so it could be Claxton and the Claxton cousin didn’t receive it, or it could be Campbell, but it’s one or the other because Joy, William and I all three carry this segment.

ADSA Claxton Campbell

What this means is that the light green segments are Claxton segments, as are the fuchsia segments.  The source of the darker green segment is unknown.  It could be either Claxton or Campbell or a third common line that we don’t know about.

3.  Untangling Those Darned Moores

I swear, the Moore family is going to be the death of me yet. It’s one of my long-standing, extremely difficult brick walls.  It seems like every road of every county in Virginia and NC had one or more Moore families.  It’s a very common name.  To make thing worse, the early Moores were very prolific and they all named their children the same names, like James and William, generation after generation.

The earliest sign I can find of my particular Moore family is in Prince Edward County, Virginia when James Moore married Mary Rice (daughter of Joseph Rice and wife Rachel) in the early 1740s.  By the 1770s, the family was living in Halifax County, Virginia and their children were marrying and having children of their own of course.  They were some of the early Methodists with their son, the Reverend William Moore being a dissenting minister in Halifax County and his brothers Rice and Mackness Moore doing the same in Hawkins and Grainger County, TN.  Another son, James, went to Surry Co., NC.  We have confirmed this with a DNA descendant match.

We have the DNA of our Moore line proven on the Y side through multiple sons.  At the Moore Worldwide DNA project, we are group 19.  Now there are Moores all over the place in Halifax County.  I know, because I’ve paid for about half of them to DNA test and there are several distinct lines – far more than I expected.  Ironically, the Anderson Moore family who lived across the road from our James and then his son Rev. William, who raised the orphan Raleigh Moore, grandson of the Rev. William Moore, is NOT of the same Moore DNA line.  Based on the interaction of these two families, one would think assuredly that they were, which raises questions.  This Anderson Moore was the son of yet another James Moore, this one from Amelia County, VA., found in the large group 1 of the Moore project.  If this is all just too confusing and too close for comfort for you, well, join the crowd and what we Moore descendants have been dealing with for a decade now.

This raises the question of why there are so few matches to our Moore line.  Was our Moore line a “new Moore line,” born perhaps to a Moore daughter who gave the child her surname.  However, the child of course would pass on the father’s Y chromosome, establishing a “new” Moore genetic line.  I’m not saying that is what happened, just that it’s odd that there are so few matches to a clearly colonial Moore line out of Virginia.  With only one exception, someone genealogically stuck in Kentucky, to date, all DNA matches are all descendants of our James.  We do know that there was a William Moore, wife Margaret, living adjacent to James Moore in Prince Edward County but he and his wife sold out and moved on and are unaccounted for.

I’ve seen this same pattern with the Younger family line too, and sure enough, we did prove that these two different Y chromosome Younger families in fact do share a common ancestor.

So you can see why I get excited when I find anything at all, and I mean anything, about the Moore family line.

A Moore descendant of Raleigh, the orphan, has taken the autosomal Family Finder test, and he matched my cousin Buster, a known Moore descendant, and also another Cumberland Gap region researcher, Larry.  Larry also matches Buster.  I was very excited to see this three way match and I wrote to Larry asking if he had a Moore line.  Yes, he did, two in fact.  The Levi Moore line out of Kentucky and an Alexander Moore line out of Stokes County, NC, after they wandered down from Berks Co., PA. sometime before 1803.

Groan. Two Moores – I can’t even manage to sort one out, how will I ever sort two?

Then Larry told me that he had 4 of his cousins tested too.  Bless you Larry.

And better yet, one of Larry’s Moore lines is on his mother’s side and one on his father’s.  Even better yet.  Things are improving.

Now I’m really excited, right up until I discover that my cousin Buster matches two of Larry’s 3 cousins on his mother’s side and my Moore cousin from Halifax County, Virginia, matches the cousin on Larry’s father’s side.

How could I be THIS unlucky???

So I started out utilizing the ICW and Matrix tools at Family Tree DNA.  Because these people all matched Larry on overlapping segments on the chromosome browser, my first thought was maybe that these two Moore lines were really one and the same.  But then I pushed the ICW matches through to the Family Finder Matrix, and no, Larry’s paternal cousin does not match any of the three maternal cousins, who all match each other.  So the two Moore families are not one and the same.

Crumb.  Thank Heavens though for the Matrix which provides proof positive of whether your matches match each other.  Remember, you have two sides to each chromosome and you will have matches to both sides.  Without the Matrix tool, you have no way of knowing which of your matches are from the same side of your chromosome, meaning Mom’s side or Dad’s side.

Just about this time, as I was beginning to construct matrixes of who matches whom in the ICW compares between all of the ICW match permutations, I received a note from Don that he wanted beta testers for his new ADSA application.  I immediately knew what I was going to test!

I started with my cousin Buster’s kit.  Buster is one generation upstream from me, so one generation closer to the Moore ancestors.

On Larry’s maternal line, descended from the Levi Moore (Ky) line, he tested three cousins.  Buster had the following match results with Larry and his maternal line cousins.

  • Larry – match
  • Janice  – no match
  • Ronald  – match
  • B.J.  – match

I have redacted the e-mails and surnames below, but want to draw your attention to the individuals with the red arrows, as noted above.ADSA1 cropped v2

On the graphic below, I’m showing only the right side, so you can see the matching ICW (in common with) block patterns.  Larry is last, I’m second from last and Larry’s two cousins are the first and second red arrows.  We are all matching to my cousin, Buster.

ADSA2 cropped

You can see that all of these people match Buster.  Larry has blocks that are pink, red, fuchsia, gold, navy blue and lime green.  All of the group above, except me and two other people, one of which is my known cousin on another line, match Larry on these blocks, or at least most of these blocks.  I, however, match none of this group on none of these blocks, nor do my other known cousins who also descend through this same Moore line.  This means that this group matches Buster through Buster’s mother’s line, not through the Estes line, which means that this Moore line is not the James Moore line of Halifax County.  So the Levi Moore group of Kentucky is not descended from the James Moore group of Prince Edward and Halifax County.

Of course, I’m disappointed, but eliminating possibilities is just as important as confirming them.  I keep telling myself that anyway.

The male Moore descendant in Halifax Co., proven via Y line testing, does match with Chloa, Larry’s paternal cousin, and with Larry as well, as shown below.  Let’s see if we can discern any other people who match in a cluster, which would give us other people to contact about their Moore lines.  Keep in mind that we don’t know that the DNA in common here is from the Moore line.  It could come from another common line.  That is part of what we’d like to prove.

ADSA3

Let’s take a closer look at what this is telling us.

First, there’s a much smaller group, and this is the only chromosome where Chloa matches our Moore cousin.

So let’s look at each line.  The first person, John, doesn’t match anyone else, so he’s not in this group.

Larry and his cousin, Chloa are second and third from the bottom, and they form the match group.  You can see that they match exactly except Chloa has one brighter green segment that matches our Moore cousin in a location with no other matches.  However, the match group of navy blue, periwinkle, lime green and burgundy form a distinctive pattern.  In addition to Chloa and Larry, Virginia, and Arlina share the same segments, plus Arlina had a pink segment that Larry and Chloa don’t have.  Donald may be a cousin too, but we don’t know if Donald would also match the rest of the group.  Linda might match Donald, but doesn’t look like she matches the group, but she could.  At this point, we can drop back to Family Tree DNA and the matrix and take a look to see if these folks match each other in the way we’d expect based on the ADSA tool.

ADSA Matrix

Just like we expected, John doesn’t match anyone.  As expected, Larry, Chloa, Arlina, and Virginia all matched each other.  As it turns out, Linda does not match the rest of the group, but she does match Donald, who does match Arlina.  Therefore, our focus needs to be on contacting Arlina, Donald and Virginia and asking them about their Moore lines, or the surnames of known Moore wives, such as Rice in my James Moore line or wives surnames in Larry’s Moore line.  Just on the basis of possibility, I would also contact Linda and ask, but she is the long shot.  However, like the lottery, you can’t win if you don’t play, so just send that one extra e-mail.  You never know.  Life is made up of stories about serendipity and opportunities almost missed.

If Larry’s Moore line is the same as our Moore cousin’s line, genetically, maybe we can make headway by tracking Larry’s line.  Larry was kind enough to provide me with a website, and his Moore line begins with daughter Sarah.  Her father is Alexander Moore born in 1730 who married Elizabeth Wright.  His father was Alexander born in 1710 and who lived in Bucks Co., PA.  The younger Alexander died in Stokes Co., NC in 1803.

Moore website 1 cropped

Moore website 2

Moore website 3

Our next step is to see if this Alexander Moore line has been Y DNA tested.  Checking back at the Moore Worldwide project, this family line is not showing, but I’ve dropped a note to the administrators,  just the same.  Unfortunately, not everyone enters their most distant ancestor information which means that information is blank on the project website.

If this Alexander Moore line has been Y tested, then we already know they don’t match our group paternally.  The connection, in that case, if this genetic connection is a Moore line, could be due to a daughter birth.  If this Moore line has not been Y tested, then it means that I’ll be trying to track down a Moore descendant of one of these Alexander Moores to do the DNA test.  It would be wonderful to finally make some headway on the James Moore family.  We’ve been brick walled for such a long time.

If you descend from either of these Moore family lines, the James Moore (c 1720-c 1798) and Mary Rice line, or the Alexander Moore and Elizabeth Wright or Elizabeth Robinson line, please consider taking the Family Finder autosomal DNA test at Family Tree DNA.  If you know of a male Moore who descends from the Alexander Moore line, let’s see if he would be willing to Y DNA test.

There is a great deal of power in the combined results of descendants, as you can clearly see, thanks to Don Worth and his new Autosomal DNA Segment Analyzer tool.

Give it a test run at: http://www.DNAgedcom.com/adsa

Don wrote documentation and instructions, found here.  Please read them before downloading your files.

And Don, a big, hearty thank you for this new way to “see” our ancestors!  Thank you to Rob Warthen too for hosting this wonderful new tool!

2013’s Dynamic Dozen – Top Genetic Genealogy Happenings

dna 8 ball

Last year I wrote a column at the end of the year titled  “2012 Top 10 Genetic Genealogy Happenings.”  It’s amazing the changes in this industry in just one year.  It certainly makes me wonder what the landscape a year from now will look like.

I’ve done the same thing this year, except we have a dozen.  I couldn’t whittle it down to 10, partly because there has been so much more going on and so much change – or in the case of Ancestry, who is noteworthy because they had so little positive movement.

If I were to characterize this year of genetic genealogy, I would call it The Year of the SNP, because that applies to both Y DNA and autosomal.  Maybe I’d call it The Legal SNP, because it is also the year of law, court decisions, lawsuits and FDA intervention.  To say it has been interesting is like calling the Eiffel Tower an oversized coat hanger.

I’ll say one thing…it has kept those of us who work and play in this industry hopping busy!  I guarantee you, the words “I’m bored” have come out of the mouth of no one in this industry this past year.

I’ve put these events in what I consider to be relatively accurate order.  We could debate all day about whether the SNP Tsunami or the 23andMe mess is more important or relevant – and there would be lots of arguing points and counterpoints…see…I told you lawyers were involved….but in reality, we don’t know yet, and in the end….it doesn’t matter what order they are in on the list:)

Y Chromosome SNP Tsunami Begins

The SNP tsumani began as a ripple a few years ago with the introduction at Family Tree DNA of the Walk the Y program in 2007.  This was an intensively manual process of SNP discovery, but it was effective.

By the time that the Geno 2.0 chip was introduced in 2012, 12,000+ SNPs would be included on that chip, including many that were always presumed to be equivalent and not regularly tested.  However, the Nat Geo chip tested them and indeed, the Y tree became massively shuffled.  The resolution to this tree shuffling hasn’t yet come out in the wash.  Family Tree DNA can’t really update their Y tree until a publication comes out with the new tree defined.  That publication has been discussed and anticipated for some time now, but it has yet to materialize.  In the mean time, the volunteers who maintain the ISOGG tree are swamped, to say the least.

Another similar test is the Chromo2 introduced this year by Britain’s DNA which scans 15,000 SNPs, many of them S SNPs not on the tree nor academically published, adding to the difficulty of figuring out where they fit on the Y tree.  While there are some very happy campers with their Chromo2 results, there is also a great deal of sloppy science, reporting and interpretation of “facts” through this company.  Kind of like Jekyll and Hyde.  See the Sloppy Science section.

But Walk the Y, Chromo2 and Geno 2.0, are only the tip of the iceburg.  The new “full Y” sequencing tests brought into the marketspace quietly in early 2013 by Full Genomes and then with a bang by Family Tree DNA with the their Big Y in November promise to revolutionize what we know about the Y chromosome by discovering thousands of previously unknown SNPs.  This will in effect swamp the Y tree whose branches we thought were already pretty robust, with thousands and thousands of leaves.

In essence, the promise of the “fully” sequenced Y is that what we might term personal or family SNPs will make SNP testing as useful as STR testing and give us yet another genealogy tool with which to separate various lines of one genetic family and to ratchet down on the time that the most common recent ancestor lived.

http://dna-explained.com/2013/03/31/new-y-dna-haplogroup-naming-convention/

http://dna-explained.com/2013/11/10/family-tree-dna-announces-the-big-y/

http://dna-explained.com/2013/11/16/what-about-the-big-y/

http://www.yourgeneticgenealogist.com/2013/11/first-look-at-full-genomes-y-sequencing.html

http://cruwys.blogspot.com/2013/12/a-first-look-at-britainsdna-chromo-2-y.html

http://cruwys.blogspot.com/2013/11/yseqnet-new-company-offering-single-snp.html

http://cruwys.blogspot.com/2013/11/the-y-chromosome-sequence.html

http://cruwys.blogspot.com/2013/11/a-confusion-of-snps.html

http://cruwys.blogspot.com/2013/11/a-simplified-y-tree-and-common-standard.html

23andMe Comes Unraveled

The story of 23andMe began as the consummate American dotcom fairy tale, but sadly, has deteriorated into a saga with all of the components of a soap opera.  A wealthy wife starts what could be viewed as an upscale hobby business, followed by a messy divorce and a mystery run-in with the powerful overlording evil-step-mother FDA.  One of the founders of 23andMe is/was married to the founder of Google, so funding, at least initially wasn’t an issue, giving 23andMe the opportunity to make an unprecedented contribution in the genetic, health care and genetic genealogy world.

Another way of looking at this is that 23andMe is the epitome of the American Dream business, a startup, with altruism and good health, both thrown in for good measure, well intentioned, but poorly managed.  And as customers, be it for health or genealogy or both, we all bought into the altruistic “feel good” culture of helping find cures for dread diseases, like Parkinson’s, Alzheimer’s and cancer by contributing our DNA and responding to surveys.

The genetic genealogy community’s love affair with 23andMe began in 2009 when 23andMe started focusing on genealogy reporting for their tests, meaning cousin matches.  We, as a community, suddenly woke up and started ordering these tests in droves.  A few months later, Family Tree DNA also began offering this type of testing as well.  The defining difference being that 23andMe’s primary focus has always been on health and medical information with Family Tree DNA focused on genetic genealogy.  To 23andMe, the genetic genealogy community was an afterthought and genetic genealogy was just another marketing avenue to obtain more people for their health research data base.  For us, that wasn’t necessarily a bad thing.

For awhile, this love affair went along swimmingly, but then, in 2012, 23andMe obtained a patent for Parkinson’s Disease.  That act caused a lot of people to begin to question the corporate focus of 23andMe in the larger quagmire of the ethics of patenting genes as a whole.  Judy Russell, the Legal Genealogist, discussed this here.  It’s difficult to defend 23andMe’s Parkinson’s patent while flaying alive Myriad for their BRCA patent.  Was 23andMe really as altruistic as they would have us believe?

Personally, this event made me very nervous, but I withheld judgment.  But clearly, that was not the purpose for which I thought my DNA, and others, was being used.

But then came the Designer Baby patent in 2013.  This made me decidedly uncomfortable.  Yes, I know, some people said this really can’t be done, today, while others said that it’s being done anyway in some aspects…but the fact that this has been the corporate focus of 23andMe with their research, using our data, bothered me a great deal.  I have absolutely no issue with using this information to assure or select for healthy offspring – but I have a personal issue with technology to enable parents who would select a “beauty child,” one with blonde hair and blue eyes and who has the correct muscles to be a star athlete, or cheerleader, or whatever their vision of their as-yet-unconceived “perfect” child would be.  And clearly, based on 23andMe’s own patent submission, that is the focus of their patent.

Upon the issuance of the patent, 23andMe then said they have no intention of using it.  They did not say they won’t sell it.  This also makes absolutely no business sense, to focus valuable corporate resources on something you have no intention of using?  So either they weren’t being truthful, they lack effective management or they’ve changed their mind, but didn’t state such.

What came next, in late 2013 certainly points towards a lack of responsible management.

23andMe had been working with the FDA for approval the health and medical aspect of their product (which they were already providing to consumers prior to the November 22nd cease and desist order) for several years.  The FDA wants assurances that what 23andMe is telling consumers is accurate.  Based on the letter issued to 23andMe on November 22nd, and subsequent commentary, it appears that both entities were jointly working towards that common goal…until earlier this year when 23andMe mysteriously “somehow forgot” about the FDA, the information they owed them, their submissions, etc.  They also forgot their phone number and their e-mail addresses apparently as well, because the FDA said they had heard nothing from them in 6 months, which backdates to May of 2013.

It may be relevant that 23andMe added the executive position of President and filled it in June of 2013, and there was a lot of corporate housecleaning that went on at that time.  However, regardless of who got housecleaned, the responsibility for working with the FDA falls squarely on the shoulders of the founders, owners and executives of the company.  Period.  No excuses.  Something that critically important should be on the agenda of every executive management meeting.   Why?  In terms of corporate risk, this was obviously a very high risk item, perhaps the highest risk item, because the FDA can literally shut their doors and destroy them.  There is little they can do to control or affect the FDA situation, except to work with the FDA, meet deadlines and engender goodwill and a spirit of cooperation.  The risk of not doing that is exactly what happened.

It’s unknown at this time if 23andMe is really that corporately arrogant to think they could simply ignore the FDA, or blatantly corporately negligent or maybe simply corporately stupid, but they surely betrayed the trust and confidence of their customers by failing to meet their commitments with and to the FDA, or even communicate with them.  I mean, really, what were they thinking?

There has been an outpouring of sympathy for 23andme and negative backlash towards the FDA for their letter forcing 23andMe to stop selling their offending medical product, meaning the health portion of their testing.  However, in reality, the FDA was only meting out the consequences that 23andMe asked for.  My teenage kids knew this would happen.  If you do what you’re not supposed to….X, Y and Z will, or won’t, happen.  It’s called accountability.  Just ask my son about his prom….he remembers vividly.  Now why my kids, or 23andMe, would push an authority figure to that point, knowing full well the consequences, utterly mystifies me.  It did when my son was a teenager and it does with 23andMe as well.

Some people think that the FDA is trying to stand between consumers and their health information.  I don’t think so, at least not in this case.  Why I think that is because the FDA left the raw data files alone and they left the genetic genealogy aspect alone.  The FDA knows full well you can download your raw data and for $5 process it at a third party site, obtaining health related genetic information.  The difference is that Promethease is not interpreting any data for you, only providing information.

There is some good news in this and that is that from a genetic genealogy perspective, we seem to be safe, at least for now, from government interference with the testing that has been so productive for genetic genealogy.  The FDA had the perfect opportunity to squish us like a bug (thanks to the opening provided by 23andMe,) and they didn’t.

The really frustrating aspect of this is that 23andMe was a company who, with their deep pockets in Silicon Valley and other investors, could actually afford to wage a fight with the FDA, if need be.  The other companies who received the original 2010 FDA letter all went elsewhere and focused on something else.  But 23andMe didn’t, they decided to fight the fight, and we all supported their decision.  But they let us all down.  The fight they are fighting now is not the battle we anticipated, but one brought upon themselves by their own negligence.  This battle didn’t have to happen, and it may impair them financially to such a degree that if they need to fight the big fight, they won’t be able to.

Right now, 23andMe is selling their kits, but only as an ancestry product as they work through whatever process they are working through with the FDA.  Unfortunately, 23andMe is currently having some difficulties where the majority of matches are disappearing from some testers records.  In other cases, segments that previously matched are disappearing.  One would think, with their only revenue stream for now being the genetic genealogy marketspace that they would be wearing kid gloves and being extremely careful, but apparently not.  They might even consider making some of the changes and enhancements we’ve requested for so long that have fallen on deaf ears.

One thing is for sure, it will be extremely interesting to see where 23andMe is this time next year.  The soap opera continues.

I hope for the sake of all of the health consumers, both current and (potentially) future, that this dotcom fairy tale has a happy ending.

Also, see the Autosomal DNA Comes of Age section.

http://dna-explained.com/2013/10/05/23andme-patents-technology-for-designer-babies/

http://www.thegeneticgenealogist.com/2013/10/07/a-new-patent-for-23andme-creates-controversy/

http://dna-explained.com/2013/11/13/genomics-law-review-discusses-designing-children/

http://www.thegeneticgenealogist.com/2013/06/11/andy-page-fills-new-president-position-at-23andme/

http://dna-explained.com/2013/11/25/fda-orders-23andme-to-discontinue-testing/

http://dna-explained.com/2013/11/26/now-what-23andme-and-the-fda/

http://dna-explained.com/2013/12/06/23andme-suspends-health-related-genetic-tests/

http://www.legalgenealogist.com/blog/2013/11/26/fooling-with-fda/

Supreme Court Decision – Genes Can’t Be Patented – Followed by Lawsuits

In a landmark decision, the Supreme Court determined that genes cannot be patented.  Myriad Genetics held patents on two BRCA genes that predisposed people to cancer.  The cost for the tests through Myriad was about $3000.  Six hours after the Supreme Court decision, Gene By Gene announced that same test for $995.  Other firms followed suit, and all were subsequently sued by Myriad for patent infringement.  I was shocked by this, but as one of my lawyer friends clearly pointed out, you can sue anyone for anything.  Making it stick is yet another matter.  Many firms settle to avoid long and very expensive legal battles.  Clearly, this issue is not yet resolved, although one would think a Supreme Court decision would be pretty definitive.  It potentially won’t be settled for a long time.

http://dna-explained.com/2013/06/13/supreme-court-decision-genes-cant-be-patented/

http://www.legalgenealogist.com/blog/2013/06/14/our-dna-cant-be-patented/

http://dna-explained.com/2013/09/07/message-from-bennett-greenspan-free-my-genes/

http://www.thegeneticgenealogist.com/2013/06/13/new-press-release-from-dnatraits-regarding-the-supreme-courts-holding-in-myriad/

http://www.legalgenealogist.com/blog/2013/08/18/testing-firms-land-counterpunch/

http://www.legalgenealogist.com/blog/2013/07/11/myriad-sues-genetic-testing-firms/

Gene By Gene Steps Up, Ramps Up and Produces

As 23andMe comes unraveled and Ancestry languishes in its mediocrity, Gene by Gene, the parent company of Family Tree DNA has stepped up to the plate, committed to do “whatever it takes,” ramped up the staff both through hiring and acquisitions, and is producing results.  This is, indeed, a breath of fresh air for genetic genealogists, as well as a welcome relief.

http://dna-explained.com/2013/08/07/gene-by-gene-acquires-arpeggi/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://www.haplogroup.org/ftdna-family-finder-matches-get-new-look/

http://www.haplogroup.org/ftdna-family-finder-new-look-2/

http://www.haplogroup.org/ftdna-family-finder-matches-new-look-3/

Autosomal DNA Comes of Age

Autosomal DNA testing and analysis has simply exploded this past year.  More and more people are testing, in part, because Ancestry.com has a captive audience in their subscription data base and more than a quarter million of those subscribers have purchased autosomal DNA tests.  That’s a good thing, in general, but there are some negative aspects relative to Ancestry, which are in the Ancestry section.

Another boon to autosomal testing was the 23andMe push to obtain a million records.  Of course, the operative word here is “was” but that may revive when the FDA issue is resolved.  One of the down sides to the 23andMe data base, aside from the fact that it’s not genealogist friendly, is that so many people, about 90%, don’t communicate.  They aren’t interested in genealogy.

A third factor is that Family Tree DNA has provided transfer ability for files from both 23andMe and Ancestry into their data base.

Fourth is the site, GedMatch, at www.gedmatch.com which provides additional matching and admixture tools and the ability to match below thresholds set by the testing companies.  This is sometimes critically important, especially when comparing to known cousins who just don’t happen to match at the higher thresholds, for example.  Unfortunately, not enough people know about GedMatch, or are willing to download their files.  Also unfortunate is that GedMatch has struggled for the past few months to keep up with the demand placed on their site and resources.

A great deal of time this year has been spent by those of us in the education aspect of genetic genealogy, in whatever our capacity, teaching about how to utilize autosomal results. It’s not necessarily straightforward.  For example, I wrote a 9 part series titled “The Autosomal Me” which detailed how to utilize chromosome mapping for finding minority ethnic admixture, which was, in my case, both Native and African American.

As the year ends, we have Family Tree DNA, 23andMe and Ancestry who offer the autosomal test which includes the relative-matching aspect.  Fortunately, we also have third party tools like www.GedMatch.com and www.DNAGedcom.com, without which we would be significantly hamstrung.  In the case of DNAGedcom, we would be unable to perform chromosome segment matching and triangulation with 23andMe data without Rob Warthen’s invaluable tool.

http://dna-explained.com/2013/06/21/triangulation-for-autosomal-dna/

http://dna-explained.com/2013/07/13/combining-tools-autosomal-plus-y-dna-mtdna-and-the-x-chromosome/

http://dna-explained.com/2013/07/26/family-tree-dna-levels-the-playing-field-sort-of/

http://dna-explained.com/2013/08/03/kitty-coopers-chromsome-mapping-tool-released/

http://dna-explained.com/2013/09/29/why-dont-i-match-my-cousin/

http://dna-explained.com/2013/10/03/family-tree-dna-updates-family-finder-and-adds-triangulation/

http://dna-explained.com/2013/10/21/why-are-my-predicted-cousin-relationships-wrong/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/09/chromosome-mapping-aka-ancestor-mapping/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://dna-explained.com/2013/12/15/one-chromosome-two-sides-no-zipper-icw-and-the-matrix/

http://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/

DNAGedcom – Indispensable Third Party Tool

While this tool, www.dnagedcom.com, falls into the Autosomal grouping, I have separated it out for individual mention because without this tool, the progress made this year in autosomal DNA ancestor and chromosomal mapping would have been impossible.  Family Tree DNA has always provided segment matching boundaries through their chromosome browser tool, but until recently, you could only download 5 matches at a time.  This is no longer the case, but for most of the year, Rob’s tool saved us massive amounts of time.

23andMe does not provide those chromosome boundaries, but utilizing Rob’s tool, you can obtain each of your matches in one download, and then you can obtain the list of who your matches match that is also on your match list by requesting each of those files separately.  Multiple steps?  Yes, but it’s the only way to obtain this information, and chromosome mapping without the segment data is impossible

A special hats off to Rob.  Please remember that Rob’s site is free, meaning it’s donation based.  So, please donate if you use the tool.

http://www.yourgeneticgenealogist.com/2013/01/brought-to-you-by-adoptiondna.html

I covered www.Gedmatch.com in the “Best of 2012” list, but they have struggled this year, beginning when Ancestry announced that raw data file downloads were available.  GedMatch consists of two individuals, volunteers, who are still struggling to keep up with the required processing and the tools.  They too are donation based, so don’t forget about them if you utilize their tools.

Ancestry – How Great Thou Aren’t

Ancestry is only on this list because of what they haven’t done.  When they initially introduced their autosomal product, they didn’t have any search capability, they didn’t have a chromosome browser and they didn’t have raw data file download capability, all of which their competitors had upon first release.  All they did have was a list of your matches, with their trees listed, with shakey leaves if you shared a common ancestor on your tree.  The implication, was, and is, of course, that if you have a DNA match and a shakey leaf, that IS your link, your genetic link, to each other.  Unfortunately, that is NOT the case, as CeCe Moore documented in her blog from Rootstech (starting just below the pictures) as an illustration of WHY we so desperately need a chromosome browser tool.

In a nutshell, Ancestry showed the wrong shakey leaf as the DNA connection – as proven by the fact that both of CeCe’s parents have tested at Ancestry and the shakey leaf person doesn’t match the requisite parent.  And there wasn’t just one, not two, but three instances of this.  What this means is, of course, that the DNA match and the shakey leaf match are entirely independent of each other.  In fact, you could have several common ancestors, but the DNA at any particular location comes only from one on either Mom or Dad’s side – any maybe not even the shakey leaf person.

So what Ancestry customers are receiving is a list of people they match and possible links, but most of them have no idea that this is the case, and blissfully believe they have found their genetic connection.  They have found a genealogical cousin, and it MIGHT be the genetic connection.  But then again, they could have found that cousin simply by searching for the same ancestor in Ancestry’s data base.  No DNA needed.

Ancestry has added a search feature, allowed raw data file downloads (thank you) and they have updated their ethnicity predictions.  The ethnicity predictions are certainly different, dramatically different, but equally as unrealistic.  See the Ethnicity Makeovers section for more on this.  The search function helps, but what we really need is the chromosome browser, which they have steadfastly avoided promising.  Instead, they have said that they will give us “something better,” but nothing has materialized.

I want to take this opportunity, to say, as loudly as possible, that TRUST ME IS NOT ACCEPTABLE in any way, shape or form when it comes to genetic matching.  I’m not sure what Ancestry has in mind by the way of “better,” but it if it’s anything like the mediocrity with which their existing DNA products have been rolled out, neither I nor any other serious genetic genealogist will be interested, satisfied or placated.

Regardless, it’s been nearly 2 years now.  Ancestry has the funds to do development.  They are not a small company.  This is obviously not a priority because they don’t need to develop this feature.  Why is this?  Because they can continue to sell tests and to give shakey leaves to customers, most of whom don’t understand the subtle “untruth” inherent in that leaf match – so are quite blissfully happy.

In years past, I worked in the computer industry when IBM was the Big Dog against whom everyone else competed.  I’m reminded of an old joke.  The IBM sales rep got married, and on his wedding night, he sat on the edge of the bed all night long regaling his bride in glorious detail with stories about just how good it was going to be….

You can sign a petition asking Ancestry to provide a chromosome browser here, and you can submit your request directly to Ancestry as well, although to date, this has not been effective.

The most frustrating aspect of this situation is that Ancestry, with their plethora of trees, savvy marketing and captive audience testers really was positioned to “do it right,” and hasn’t, at least not yet.  They seem to be more interested in selling kits and providing shakey leaves that are misleading in terms of what they mean than providing true tools.  One wonders if they are afraid that their customers will be “less happy” when they discover the truth and not developing a chromosome browser is a way to keep their customers blissfully in the dark.

http://dna-explained.com/2013/03/21/downloading-ancestrys-autosomal-dna-raw-data-file/

http://dna-explained.com/2013/03/24/ancestry-needs-another-push-chromosome-browser/

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://www.thegeneticgenealogist.com/2013/06/21/new-search-features-at-ancestrydna-and-a-sneak-peek-at-new-ethnicity-estimates/

http://www.yourgeneticgenealogist.com/2013/03/ancestrydna-raw-data-and-rootstech.html

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://www.legalgenealogist.com/blog/2013/09/13/ancestrydna-begins-rollout-of-update/

Ancient DNA

This has been a huge year for advances in sequencing ancient DNA, something once thought unachievable.  We have learned a great deal, and there are many more skeletal remains just begging to be sequenced.  One absolutely fascinating find is that all people not African (and some who are African through backmigration) carry Neanderthal and Denisovan DNA.  Just this week, evidence of yet another archaic hominid line has been found in Neanderthal DNA and on Christmas Day, yet another article stating that type 2 Diabetes found in Native Americans has roots in their Neanderthal ancestors. Wow!

Closer to home, by several thousand years is the suggestion that haplogroup R did not exist in Europe after the ice age, and only later, replaced most of the population which, for males, appears to have been primarily haplogroup G.  It will be very interesting as the data bases of fully sequenced skeletons are built and compared.  The history of our ancestors is held in those precious bones.

http://dna-explained.com/2013/01/10/decoding-and-rethinking-neanderthals/

http://dna-explained.com/2013/07/04/ancient-dna-analysis-from-canada/

http://dna-explained.com/2013/07/10/5500-year-old-grandmother-found-using-dna/

http://dna-explained.com/2013/10/25/ancestor-of-native-americans-in-asia-was-30-western-eurasian/

http://dna-explained.com/2013/11/12/2013-family-tree-dna-conference-day-2/

http://dna-explained.com/2013/11/22/native-american-gene-flow-europe-asia-and-the-americas/

http://dna-explained.com/2013/12/05/400000-year-old-dna-from-spain-sequenced/

http://www.thegeneticgenealogist.com/2013/10/16/identifying-otzi-the-icemans-relatives/

http://cruwys.blogspot.com/2013/12/recordings-of-royal-societys-ancient.html

http://cruwys.blogspot.com/2013/02/richard-iii-king-is-found.html

http://dna-explained.com/2013/12/22/sequencing-of-neanderthal-toe-bone-reveals-unknown-hominin-line/

http://dna-explained.com/2013/12/26/native-americans-neanderthal-and-denisova-admixture/

http://dienekes.blogspot.com/2013/12/ancient-dna-what-2013-has-brought.html

Sloppy Science and Sensationalist Reporting

Unfortunately, as DNA becomes more mainstream, it becomes a target for both sloppy science or intentional misinterpretation, and possibly both.  Unfortunately, without academic publication, we can’t see results or have the sense of security that comes from the peer review process, so we don’t know if the science and conclusions stand up to muster.

The race to the buck in some instances is the catalyst for this. In other cases, and not in the links below, some people intentionally skew interpretations and results in order to either fulfill their own belief agenda or to sell “products and services” that invariably report specific findings.

It’s equally as unfortunate that much of these misconstrued and sensationalized results are coming from a testing company that goes by the names of BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. It certainly does nothing for their credibility in the eyes of people who are familiar with the topics at hand, but it does garner a lot of press and probably sells a lot of kits to the unwary.

I hope they publish their findings so we can remove the “sloppy science” aspect of this.  Sensationalist reporting, while irritating, can be dealt with if the science is sound.  However, until the results are published in a peer-reviewed academic journal, we have no way of knowing.

Thankfully, Debbie Kennett has been keeping her thumb on this situation, occurring primarily in the British Isles.

http://dna-explained.com/2013/08/24/you-might-be-a-pict-if/

http://cruwys.blogspot.com/2013/12/the-british-genetic-muddle-by-alistair.html

http://cruwys.blogspot.com/2013/12/setting-record-straight-about-sara.html

http://cruwys.blogspot.com/2013/09/private-eye-on-britainsdna.html

http://cruwys.blogspot.com/2013/07/private-eye-on-prince-williams-indian.html

http://cruwys.blogspot.com/2013/06/britainsdna-times-and-prince-william.html

http://cruwys.blogspot.com/2013/03/sense-about-genealogical-dna-testing.html

http://cruwys.blogspot.com/2013/03/sense-about-genetic-ancestry-testing.html

Citizen Science is Coming of Age

Citizen science has been slowing coming of age over the past few years.  By this, I mean when citizen scientists work as part of a team on a significant discovery or paper.  Bill Hurst comes to mind with his work with Dr. Doron Behar on his paper, A Copernican Reassessment of the Human Mitochondrial DNA from its Root or what know as the RSRS model.  As the years have progressed, more and more discoveries have been made or assisted by citizen scientists, sometimes through our projects and other times through individual research.  JOGG, the Journal of Genetic Genealogy, which is currently on hiatus waiting for Dr. Turi King, the new editor, to become available, was a great avenue for peer reviewed publication.  Recently, research projects have been set up by citizen scientists, sometimes crowd-funded, for specific areas of research.  This is a very new aspect to scientific research, and one not before utilized.

The first paper below includes the Family Tree DNA Lab, Thomas and Astrid Krahn, then with Family Tree DNA and Bonnie Schrack, genetic genealogist and citizen scientist, along with Dr. Michael Hammer from the University of Arizona and others.

http://dna-explained.com/2013/03/26/family-tree-dna-research-center-facilitates-discovery-of-ancient-root-to-y-tree/

http://dna-explained.com/2013/04/10/diy-dna-analysis-genomeweb-and-citizen-scientist-2-0/

http://dna-explained.com/2013/06/27/big-news-probable-native-american-haplogroup-breakthrough/

http://dna-explained.com/2013/07/22/citizen-science-strikes-again-this-time-in-cameroon/

http://dna-explained.com/2013/11/30/native-american-haplogroups-q-c-and-the-big-y-test/

http://www.yourgeneticgenealogist.com/2013/03/citizen-science-helps-to-rewrite-y.html

Ethnicity Makeovers – Still Not Soup

Unfortunately, ethnicity percentages, as provided by the major testing companies still disappoint more than thrill, at least for those who have either tested at more than one lab or who pretty well know their ethnicity via an extensive pedigree chart.

Ancestry.com is by far the worse example, swinging like a pendulum from one extreme to the other.  But I have to hand it to them, their marketing is amazing.  When I signed in, about to discover that my results had literally almost reversed, I was greeted with the banner “a new you.”  Yea, a new me, based on Ancestry’s erroneous interpretation.  And by reversed, I’m serious.  I went from 80% British Isles to 6% and then from 0% Western Europe to 79%. So now, I have an old wrong one and a new wrong one – and indeed they are very different.  Of course, neither one is correct…..but those are just pesky details…

23andMe updated their ethnicity product this year as well, and fine tuned it yet another time.  My results at 23andMe are relatively accurate.  I saw very little change, but others saw more.  Some were pleased, some not.

The bottom line is that ethnicity tools are not well understood by consumers in terms of the timeframe that is being revealed, and it’s not consistent between vendors, nor are the results.  In some cases, they are flat out wrong, as with Ancestry, and can be proven.  This does not engender a great deal of confidence.  I only view these results as “interesting” or utilize them in very specific situations and then only using the individual admixture tools at www.Gedmatch.com on individual chromosome segments.

As Judy Russell says, “it’s not soup yet.”  That doesn’t mean it’s not interesting though, so long as you understand the difference between interesting and gospel.

http://dna-explained.com/2013/08/05/autosomal-dna-ancient-ancestors-ethnicity-and-the-dandelion/

http://dna-explained.com/2013/10/04/ethnicity-results-true-or-not/

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://cruwys.blogspot.com/2013/09/my-updated-ethnicity-results-from.html?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+Cruwysnews+%28Cruwys+news%29

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://dna-explained.com/2013/10/19/determining-ethnicity-percentages/

http://www.thegeneticgenealogist.com/2013/09/12/ancestrydna-launches-new-ethnicity-estimate/

http://cruwys.blogspot.com/2013/12/a-first-look-at-chromo-2-all-my.html

Genetic Genealogy Education Goes Mainstream

With the explosion of genetic genealogy testing, as one might expect, the demand for education, and in particular, basic education has exploded as well.

I’ve written a 101 series, Kelly Wheaton wrote a series of lessons and CeCe Moore did as well.  Recently Family Tree DNA has also sponsored a series of free Webinars.  I know that at least one book is in process and very near publication, hopefully right after the first of the year.  We saw several conferences this year that provided a focus on Genetic Genealogy and I know several are planned for 2014.  Genetic genealogy is going mainstream!!!  Let’s hope that 2014 is equally as successful and that all these folks asking for training and education become avid genetic genealogists.

http://dna-explained.com/2013/08/10/ngs-series-on-dna-basics-all-4-parts/

https://sites.google.com/site/wheatonsurname/home

http://www.yourgeneticgenealogist.com/2012/08/getting-started-in-dna-testing-for.html

http://dna-explained.com/2013/12/17/free-webinars-from-family-tree-dna/

http://www.thegeneticgenealogist.com/2013/06/09/the-first-dna-day-at-the-southern-california-genealogy-society-jamboree/

http://www.yourgeneticgenealogist.com/2013/06/the-first-ever-independent-genetic.html

http://cruwys.blogspot.com/2013/10/genetic-genealogy-comes-to-ireland.html

http://cruwys.blogspot.com/2013/03/wdytya-live-day-3-part-2-new-ancient.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-day-3.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-2013-days.html

http://genealem-geneticgenealogy.blogspot.com/2013/03/the-surnames-handbook-guide-to-family.html

http://www.isogg.org/wiki/Beginners%27_guides_to_genetic_genealogy

A Thank You in Closing

I want to close by taking a minute to thank the thousands of volunteers who make such a difference.  All of the project administrators at Family Tree DNA are volunteers, and according to their website, there are 7829 projects, all of which have at least one administrator, and many have multiple administrators.  In addition, everyone who answers questions on a list or board or on Facebook is a volunteer.  Many donate their time to coordinate events, groups, or moderate online facilities.  Many speak at events or for groups.  Many more write articles for publications from blogs to family newsletters.  Additionally, there are countless websites today that include DNA results…all created and run by volunteers, not the least of which is the ISOGG site with the invaluable ISOGG wiki.  Without our volunteer army, there would be no genetic genealogy community.  Thank you, one and all.

2013 has been a banner year, and 2014 holds a great deal of promise, even without any surprises.  And if there is one thing this industry is well known for….it’s surprises.  I can’t wait to see what 2014 has in store for us!!!  All I can say is hold on tight….

Chromosome Mapping aka Ancestor Mapping

This article really should be called “Identifying Prodigal Great-Grandpa by Ancestor Mapping Your Chromosomes,” because that’s what we’re going to be doing.  It’s fun to map your ancestors to your chromosomes, but there is also a purpose and benefit to be derived.  So you can have guilt-free fun because you’re being productive too!  Oh, and yes, you can work on finding Prodigal Great-Grandpa.

I constantly receive questions similar to this:

“How can I find the identity of my mother’s mother’s father?  My great-grandmother went to her grave with this secret.  That’s one eighth of my ancestry.  What can I do?  How can I find out?”

The answer is that it’s not easy, but it is sometimes possible.  Note the word sometimes.  A good part of the definition of “sometimes” is how willing you are to do the requisite work and if you are lucky or not.  Luck favors those who work hard.  And let’s face it, you’ll never know if you don’t try.  I mean, Prodigal Great-Grandpa is not going to text you from the other side with his name and date of birth.

What we’re going to do is basically work through a process of elimination.  The term for what we are going to do is called chromosome mapping your ancestors or more simply, chromosome mapping or ancestor mapping. In essence, you are going to map your own chromosomes based on which ancestor contributed that part of your DNA.

I have simplified this process greatly in order to explain the concept in a way you can easily follow.  I’m going to use my own pedigree chart as an example.  We’ll pretend we don’t know the identity of Curtis Benjamin Lore.  And yes, for those of you wondering, all of these people are deceased.

Mapping pedigree chart

I realize that you are going to have more than the 32 autosomal matches shown on my example spreadsheet.  You’re also not going to be able to find common ancestry with many of your matches due to things like dead ends, incorrect ancestry, segments identical by state (IBS) or DNA that comes from older ancestors that is not recognizable today after name changes in many generations when descended through females.  There are lots of reasons why you might not be able to find genealogy matches.  It’s the other matches, the ones where you can decipher and determine your common ancestor that help a great deal, and that is where we’ll focus.  These are the ones that matter and the keys to identifying Prodigal Great-Grandpa.

In my example here, we live in a perfect world.  We are looking to map the DNA of my 8 great-grandparents in order to figure out the identity of mother’s mother’s father.  Of course, there is no Y-DNA to test in this instance, so we must rely on autosomal DNA.  Ok, so maybe it’s not such a perfect world.  In a perfect world, you’d be a male trying to find the identity of your father’s father’s father and you could test your own Y-DNA – but then we wouldn’t have a good story nor would we need autosomal DNA.  And most people aren’t that fortunate.

Three generations isn’t that far back – or four – if you count yourself as the first generation.  If you’re quite lucky, you can test one or both of your parents, and maybe even a grandparent or great-aunt or uncle.  Failing that, you should be able to find some cousins from your various lines to test.  This entire exercise will be much MUCH easier for you if you can test multiple people descended from each of the 4 couples involved because you’ll be able to tell which lines your matches do, and don’t, match based on which cousins they also match.  Take DNA test kits to family reunions!

Obviously, you won’t be able to test anyone directly descended from your unknown great-grandfather, except perhaps his children.  The more of his children you can test, either directly or through their children, if deceased, the better your chance of identifying your Prodigal Great-Grandfather because each child inherits some different DNA from their parents.  In my case, we’re going to presume that there are no other known children, other than my grandmother.  So how do we find Prodigal Great-Grandpa?

First, download all of your matches with corresponding segment data from your testing vendor, either 23andMe or Family Tree DNA, into a spreadsheet.  Ancestry does not allow you to do this, which is a significant drawback in terms of testing at Ancestry.  You can do this today at 23andMe and at Family Tree DNA most easily by utilizing www.dnagedcom.com download software.  You can also do this directly at Family Tree DNA on the Chromosome Browser page.

Your spreadsheet will look something like this, but without the colors.  That’s what you’ll be adding, along with the Common Ancestor column.

Mapping spreadsheet

Step 1 – Identify a common ancestor with those individuals you match on common DNA segments.  This is really two steps, the common ancestor part, and the common DNA segment part.  If these people are on your match list, we already know you have a common DNA segment over the vendor’s match threshold.  The presumption here is that if you have 3 people that match on the same segment from the same ancestor, that’s a confirmed “yes” that this particular DNA segment is descended from that ancestor.  You can also label these with only two confirmed descendants from the same ancestor, but I like to see three to be sure, especially if here is any doubt whatsoever that you’re dealing with the same ancestral family.  For example, if you are dealing with 2 people who carry the same surname from the same location, but you can’t quite find the common ancestor – you’ll need 3 matches to identify this segment.

In this case, I was able to test cousins so I know that on chromosome 1, Sue, Joe and John all match me on the same segment and they are all descended from Lazarus Estes.  I know this because one of them descends from Lazarus Estes and his wife, Elizabeth Vannoy, but the other two, Joe and John descend from an Estes upstream of Lazarus, let’s say, his father, John Y. Estes, through another child, which allows me to positively identify this segment as coming not just from the couple, Lazarus Estes and Elizabeth Vannoy, but from Lazarus specifically.

I’ve colored this segment mustard to represent Lazarus and so that you can visually see the difference between the 8 ancestors we’re working with.

2.  Repeat the same process with your other matches, hopefully utilizing cousins, to identify DNA segments of your other ancestors.  I’m only showing a very small subset of all of my DNA on my spreadsheet, and all matches are the exact same 10,000 cM blocks and only on one chromosome, for illustration purposes, but as you work through your matches, you’ll be able to color more and more of your DNA and assign it to different ancestral couples.  Each of your chromosomes will have different colors as different parts of each chromosome come from different ancestors.

Kitty Cooper released a tool to utilize AFTER you do this hard grunt-work part that paints a pretty picture of your ancestors mapped on to your various chromosomes.  Here’s her example.  Notice that each chromosome has 2 sides, Mom’s and Dad’s inheritance side.  We’re going to use that to our advantage and it’s one facet of how we’re going to find Prodigal Great-Grandpa .

mapping kitty cooper

In my case (not this example), I have several segments that I can’t identify to a particular couple, but I can assign it to a group.  This is my Acadian group and is terribly admixed because of extensive intermarriage.  I also have a “Mennonite” segment labeled in the same way for the same reason.  So while I don’t know specifically who, I do know where and that helps a lot too.  But in our perfect world in our example, we don’t have any of that.

3. Now that I have most of my genome colored in and assigned to ancestors, except for Prodigal Great-Grandpa, I can see where all new matches fall.  Let’s say I get a new match on chromosome 1 in the segments between 10,000 and 20,000 and they also match Sue, Joe and John.  Even if the new match is an adoptee and has no genealogy, I can tell them which line they descend from.  And let me tell you, there is no greater gift.  This is exactly how we told new cousin Loujean she descended from the Younger line.

However, if someone matches me on this chromosome 1 segment but NOT Sue, Joe and John, since Sue,Joe, John and I all match on the entire segment from 10,000-20,000, then the new match has to be matching me on my other parent’s side (or is IBS – identical by state, a circumstantial match.)  Never forget that you have two “sides” to each chromosome – Mom’s and Dad’s (except for the X chromosome in males which we are not addressing here.)

4.  The only part of my match spreadsheet left uncolored, since this is a perfect world, would be the part that would probably come from my Prodigal Great-Grandfather.  So let’s look at chromosome 8 and map it.

What we don’t know, and have to determine, is whether or not some of these parts of chromosome 8 really belong to ancestors identified in color above.  However, remember that we are dealing with fairly close matches, only 3 generations, and in some cases, only 2 generations, depending on which cousins tested.  So let’s say you found several cousins to test because grandma had a large family.  Based on the test results of several of your aunts and uncles along with other people descended from great-grandma’s ancestral lines, you are able to map most of the DNA of your great-grandmother.  In this case, we mapped this segment of chromosome 8 to my three cousins, Derrell, Darrell and Daryl.  (Yes, I really do have those cousins.)

The result is that now I have 8 matches that do match me, and based on other cousin matches, do descend from Great-Grandma/Great-Grandpa but don’t match the Derrell trio indicating Great-Grandma’s line.  What this tells me is that the people who aren’t assigned, because they don’t match my cousins Derrell, Daryl and Darrel, or any other distant groups, must then be from Prodigal Great-Grandpa’s side or are “problem matches.”  Problem matches are those that are IBS (Identical by State) or have a technical issue and we’re not going to deal with that here, because this is a perfect world and we’re only concerned with people whose genealogy we have and that match each other.  By this definition, problem matches are automatically eliminated.  So let’s look at the 8 people above who don’t match me or the Derrell cousins on Great-Grandma’s/Great-Grandpa’s side, beginning with Bobbi and ending with Isabel.

5.  Now we turn to genealogy.  We know that these 8 people all share a common ancestral line with Prodigal Great-Grandpa, we just don’t know who that is.  Let’s say that of this group, we discover that Bobbi, Harold and Buster are all related to each other, and glory be, they all know who their common ancestor is, or at least the common ancestral line.  Let’s say that Bobbi and Buster are first cousins in the Lore line and that Harold matches them closely as well, but he is descended from a Lore ancestor further upstream from Bobbi and Buster.  Therefore, we can now say, positively, that Prodigal Great-Grandpa descended somehow from the Lore line.

We still don’t know how Sarah, Ronald, Garret, Nina and Isabel connect to Prodigal Great-Grandpa, and that’s OK.  We can simply leave them uncolored for now.  We can select a color for Bobbi, Harold and Buster and assign then to Prodigal Great-Grandpa who descends from the Lore line.

Mapping PGG Lore

6.  Now it’s time for that luck to kick in.  We don’t know that Prodigal Great-Grandpa carried the surname Lore.  His mother could have been a Lore, or any of his ancestors.  All we have is a common surname and a common ancestor between three people who all match me on the same segment.  So, let’s assemble a tree of our cousins to see if we can narrow the scope of maybe who and where and then let’s get busy with the census and other records.  Geography is important.  Begatting requires proximity and many times, we can find the begatter in the neighborhood.  Also, check your genealogy software data base for this surname.  You may find the surname in an allied line.  Remember, families married their neighbors and often intermarried as well.

Sure enough, look there, in our perfect world, we discover that Nora Kirsch is working in her parents inn named the Kirsch House on the Ohio River in 1880.  The Kirsch House was also a boarding house, and a restaurant and pub.  One of their boarders in 1880 was none other than Benjamin Lore.  Hmmm.  Surely makes you wonder.  Further research on Benjamin Lore shows that he was a wildcat oilfield well driller working in the county where Nora lived and became something of a local legend for discovering the “Blue Lick” water well.  Well, now we have a name, proximity and maybe an opportunity.

7.  Well, peachy, but what next?  Further research on Benjamin Lore shows that he was married in the census, but where was his wife?  In previous census records, we find Benjamin Lore in Warren County, PA with his parents.  In the Warren County records, we find that he married Mary Bills, and additional research shows in 1880 a Mary Lore with 2 children, but no husband.  Court records show they later divorced, with 4 children.  Find those children!!!  They are the key to confirming the identity of Benjamin Lore as Prodigal Great-Grandpa.  If Benjamin’s other children had children about the same time as grandmother, each line should have 3 generations between Benjamin and the current generation.  Benjamin’s great-grandchildren through his first wife would be half-second cousins to me which would be the same as second cousins once removed.  They of course would be a generation closer to my mother whose DNA I also happen to have.

ISOGG has a wonderful Autosomal DNA Statistics page, and here you can see that second cousins once removed would share about 1.5% of their DNA in what is hopefully a large enough segment to match some of the cousins that have already tested.   My mother’s generation, first cousins once removed would share approximately 6.25%.

Mapping cousin chart

Benjamin’s descendants through his first wife may not match all of my cousins, but they will, hopefully, match some of the descendants of Prodigal Great-Grandpa, confirming, as best we can, that Benjamin Lore was grandmother’s father.  The best litmus test of course is how closely they would match the closest generations, like mother or great-aunts/uncles, if they were living.

Full Disclosure Note:  I used my own ancestors for purposes of illustration, even though Curtis Benjamin Lore (shown at right) was not prodigal in quite the way I portrayed in this article, well, at least not from my family’s perspective.  However, he was no saint Lore, CBeither and he may well have other descendants looking for him in this exact situation.  Aside from what we do know, there is the rumor of an illegitimate son showing up on his widow’s doorstep looking for him, albeit, a little too late.  We know that Curtis Benjamin (known as C.B.) Lore did marry Nora Kirsch in Dearborn County, Indiana, in 1888.  These photos are their “wedding photos” but interestingly, there is no photo of them together.

We also know that Curtis Benjamin Lore married Mary Bills in Warren County, PA., had four Lore children, 3 males (Sid, John Curtis and Herbert Judson Lore) and one female (Maud who married a Hendrickson), none of whom we have never been able to find.  Also, Curtis Benjamin Lore was not divorced from Mary until, ahem, after he was married to Nora Kirsch when Mary filed for divorce on the grounds of desertion.Kirsch, Nora

Apparently, his marriage to Nora Kirsch (pictured at right) fell, literally, according to the secret family story, into the “shotgun” category, so one has to understand that his choice of marriage versus death was fairly defensible.  I’m sure Nora’s father, a crusty old Civil War veteran, had no idea that he was already married or Curtis Benjamin would have been on the business end of that shotgun and marriage would not have been a choice.

The family took great care that this “uncomfortable” shotgun marriage situation never be discovered, to the point of falsifying the marriage date in the family Bible and also by “adjusting” the birth of the child by a year, also recorded incorrectly in the family Bible.  Were it not for the fact that I checked the church records in Dearborn County, I would never have discovered the discrepancy.  A child cannot be baptized months before it is born.  I might note that it was only AFTER this discovery that my mother was forthcoming with the “family secret” about the shotgun wedding.  Birth certificates were not issued at that time and my grandmother’s delayed birth certificate was issued based on the falsified family Bible information.

Benjamin probably would not have been bothered by this revelation at all, given what we know about him, but I’m sure Nora’s parents rolled over in their grave once or twice when I made the discovery and now that I’m, ugh, discussing it, and publicly at that.

Rogues and handsome scoundrels.  They are colorful and interesting aren’t they and provide a great amount of spice for family stories.  Hopefully these tools will help you find yours!!!

Navigating 23andMe for Genealogy

When I was young, there was a local woman who was extremely unhappy with her husband’s late night carousing.  He would come home “a bit tipsy” as well, and tried to sneak in unnoticed by leaving the lights off.  She was tired of it, so she got even, er, um, I mean, created a learning moment.

She rearranged all of the furniture and you had to walk through the living room to get to the bedroom.  About 3AM, she heard a huge crash.

Well, that’s what 23andMe did a few weeks ago.  I know they think they improved their website, but they didn’t.  And what they’ve done is cause a huge amount of work for those of us who assist others who have tested at 23andMe.  People can’t find the genealogy tools.  They both renamed them and relocated them and we didn’t even get any new features in the deal.  Where features were located wasn’t intuitive before, and they still aren’t, but now they are in different unintuitive places than they were before.  In other words, stumble, thump, crash – the lights are out and someone’s home.

So, as a matter of self-defense, I’m writing this blog about the basics of how to navigate the 23andMe site and how to utilize their genealogy tools.  It’s easy to miss opportunities if you don’t understand the nuances of their system, and they do have some great tools, by whatever name they call them.

We’re only interested in the genetic genealogy aspect, so we’re not discussing how to navigate the rest of their site.  Yes, there is more to the site than genealogy:)

The sign-on screen still looks the same.  After that, it’s all different.

First, remember that if you manage multiple kits, 23andMe decides which one is your default and you may not come up as “yourself.”  You can solve that by flying over your name in the upper right hand corner and then clicking on “switch profiles.”  I surely wish they would let you select and save your selection permanently.  You have to switch profiles every time you sign on.

Making Yourself Visible

The second thing you need to make sure of is that you ARE sharing, that people can see you.

Fly over the gear on the left hand side of the page at the top.  You’ll see the Settings option, click on that, then look through the options there, but specifically the “Privacy/Consent” tab.

nav 23andme gear

I’ve had people who could not figure out why they never received any invitations and their friends couldn’t find them, and it’s because their selections precluded sharing or did not allow people to search for them.

Here’s part of the Setting page, but you’ll want to review all of the information under your various settings tabs.

nav 23andme 1

The main page has several panel buttons across the top.  Not all are shown below.  The two we are going to be interested in are the “DNA Relatives” and the “Ancestry Composition.”

nav 23andme 2

If you want a quick overview of all of your genealogy information at 23andMe, you can click on the “My Ancestry Overview” button, but that’s not where the meat is – it’s  more like an appetizer.

nav 23andme 3

Here’s an example of the overview page.  Hint, the 4% Scandinavian showing is NOT your results, just the “cover page.”

Ancestry Composition – Ethnic Percentages

Click on Ancestry Composition.

You’ll see your own results in a circle chart.

nav 23andme 4

You can toggle the “standard” estimate to speculative or conservative in the drop down box at the upper right.  You can also change this circle to “chromosome view” which is really interesting.  The bar graph shows me that the two locations with identifiable Native American ancestry are found on my chromosomes 1 and 2.

nav 23andme 5

If you’ve been following my blog, you’ll know that I took this information and ran with it.  Here’s the link to “The Autosomal Me” series.

If you’re interested in taking this further and trying to identify your lines that match up with different ethnic admixtures, take a look at the series, especially Part 4, “The Autosomal Me, Testing Company Results.”  You’ll need to utilize some special download techniques and tools found outside of 23andMe, such as www.dnagedcom.com and you’ll also be utilizing www.gedmatch.com as well.  What 23andMe provides you in this category is just the beginning.

Finding Matches

There are four ways to find and select people at 23andMe to invite to share their DNA with you.  23andMe is different than Family Tree DNA.  At Family Tree DNA, you are testing FOR genealogy, nothing else, so when you sign your authorization and consent for comparison, it speaks only to genealogy data, not medical data.  So everyone at Family Tree DNA is sharing unless they specifically elect not to.  23andMe also provides health information and many who tested for health traits are not interested in genealogy, so in order to share any information at 23andMe, you must invite them to share and they must agree.

Of course, 23andMe shows you a thumbnail of who you match, but there are several ways to refine and be selective about this process.

Searching for Specific People

If you know who you want to invite to match, enter their e-mail address, their name, their surname or their nickname at 23andMe in the main site search box.  If they have allowed searching and have tested at 23andMe, a link to request sharing will be shown, similar to the screen below.

Finding People with Common Surnames

First of all, to find people whose surnames include those in your family tree as well, in the general site search box, type in the surname you’re hunting for. Let’s hope it’s not Smith.

nav 23andme 6

The results of that search in all categories on the 23andMe site are shown, and you can click on any of the categories for more information.  In my case, I see that there are more than 100 people whose information includes Estes.  I can click on any of the links that say “invite so-and-so” to invite them to share with me.  I always customize the message.  Many people don’t reply to “generic” messages that don’t say why someone is asking to compare.

nav 23andme 7

Finding Genetic Matches

To see whose DNA you match, click on Family and Friends, then on DNA Relatives.

nav 23andme 8

The first person on your list, is you.  This is a good sanity check to be sure you’re comparing the right profile and not your cousins when you thought it was your own.

nav 23andme 9

Next you’ll see your closest matches.  These folks I’m most closely related to are my “Blessed Cousin Circle” who graciously provided their DNA so I could utilize it to figure how who matched whom.  Like a huge family puzzle, with no picture on the box cover.

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On down the list a ways are folks who I match but with whom I’m not yet sharing.  Geeze, guess I’d better try to fix that!

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Looking down the list, I see that few have included much information, which is sometimes an indication that they’re either not interested or don’t know a lot about their genealogy.  But look, there’s one with quite a bit of information near the bottom of the list.  Great.  But wait….oh no….I’ve already sent an invitation and never heard back.  That’s OK though, because I can send another message by clicking on “View” and then “Compose.”  Again, I always include a personal message.  Some people include links to their family trees in these messages as well.

Searching for Surnames within Genetic Matches

Let’s say I want to be more specific and I want to target people on my match list that have a specific surname.  I want to see who among my genetic matches also shares the Bolton surname in a genealogical line.

In the “search matches” box at the top of the list of names, I entered Bolton, my father’s mother’s maiden name.

The list returned is small.  The first person, Stacy, is my cousin and I know her genealogy quite well, so that surname match is expected.  But I don’t’ know the second person, Janet, and I need to investigate this further.

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Remember, this is a surname search of those who match genetically.  Even though Janet and I share a common surname and some DNA, our match may NOT be through the Bolton line.  In fact, it could be on my mother’s side instead.

So as a quick check, since I manage my Cousin Stacy’s DNA account, and she is related through my father, I’m going to see if she matches Janet too. If so, then that means the match is from my father’s line, and could well be the Bolton family.  This technique is called triangulation.

Stacy does not match Janet, so that means that more genealogy work is in order to see if the Henry Bolton (1759-1846) ancestral line is our common line. It could simply be that Stacy and Janet are too far removed from a common ancestor and Bolton is the correct genealogy line, but they don’t share a large enough segment of DNA to show up on each other’s lists.

The other potential issue is that either Stacy or Janet is over their 1000 match limit imposed by 23andMe, so they might actually match each other, but have fallen off the match list.  This is becoming a larger and larger issue.  I’m over that limit as are most people who have Jewish heritage and many who carry colonial American genealogy.  So far, 23andMe has declined to address this growing issue.  It makes drawing any conclusions from this type of triangulation impossible through a vendor-imposed handicap.

Composite Surnames

On the DNA Relatives Page, click on the surname link in the upper right hand corner.  What this shows you are the number of the various surnames on your list as compared to how rare they are in the general population.  This is your signal that something is up, so to speak, and it might be your lucky day.

My most “enriched” surname is Vannoy.  This means that it appears 7 times in my match list, including as one of my own historical surnames, and it’s quite rare otherwise, which is why the 98 on the enrichment bar and the fact that is it is my more prevalent rare surname.

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Looking down the list, this implies that maybe Henley is one of my family names that I’m not aware of.  Maybe I should contact the Henley matches and see if there is anything in common between them, genealogically, and if I have any dead ends where their ancestors are located.  Maybe I should see if their DNA and mine overlaps in any common location.  The easiest way to do that would be to use the downloaded spreadsheet via www.dnagedcom.com because then we can see everyone who matches those segments of DNA, including those who have tested at Family Tree DNA because I’ve downloaded that file into my spreadsheet as well.

You can click on the surname and your matches will be displayed, including ones you’re sharing with and ones you aren’t.  In this case, I clicked on McNeil and discovered my matches are all my cousins, so nothing new to be discovered here.

I did notice that not all my surnames are present.  For example, Estes is missing.  I’m not sure how 23andMe selects the names to include, and there is no “page help,” so I’m just glad for the ones that are present on the list.

Chromosome Comparison Tool

Ok, now that you’ve found matches and they are sharing with you, what’s next?  The next tool is the chromosome comparison tool, found under Family and Friends, then Family Traits.

This tool allows you to compare any two people on your list of matches, including the X chromosome which is inherited differently and can be a very important genealogy hint.

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Here’s  a comparison of me and my cousin, Cheryl.  Her father and my grandfather were brothers, so we share quite a bit of DNA.  And because I know where it comes from, genealogically, anyone who matches both of us on these segments shares our ancestry too.  No, you can’t do that “compare all” function at 23andMe, but your downloaded spreadsheet will handle that quite nicely.

Update:  Venice points out that Family Traits does one thing that Family Inheritance: Advanced doesn’t do – it identifies fully identical segments vs. half identical segments.  Most segments between genetic relatives are half identical, but (full) siblings will have a fair amount that’s fully identical.  Family Traits also shows the locations of the centromeres and other low-data zones.

Family Inheritance, Advanced

Under the Ancestry Tools tab, there is one more tool I want to discuss briefly.  Unfortunately, it’s not as useful as it could be because of the way it has been implemented.

This tool allows you to compare yourself with up to three other kits whom you match, except for public matches.  Unfortunately, I have several public matches and I’d love to be able to do this comparison.  For example, I’d like to compare myself to my cousin Stacy and Janet, but because Janet is a public match, she’s not available on my list:(

Update:  Kitty has found a way to allow for Public match comparisons.  “To offer to share with a public person you have to click on their name at the left to go to their profile and then click the words Invite (name) to share genomes located at the top right.”  Thank you Kitty!

Red Herring Matches

Let’s use Family Inheritance Advanced as an example of two people who match me on the same segment, but are from opposite sides of my family.  I know when we talk about this, people secretly say to themselves, “yea, but how often does that really happen, I mean, what are the chances.?”  Well, here’s the answer.  Better chances that winning the lottery, for sure, and I mean the scratch off tickets where you win a dollar!

My cousins Stacy and Cheryl are from Dad’s and Mom’s side of the family, respectively.  We know they don’t share common ancestry, but look, they both match me on four of the same segments.

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How is this possible, you ask.  Remember, I have two halves of each chromosome, one from Mom and one from Dad.  It just so happens that Cheryl and Stacy both match me on the same segment, but they are actually matching two different sides of my chromosome.

Now let’s prove this to the doubting Thomas’s out there.

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Here is the comparison of Cheryl and Stacy directly to each other.  They do have one small matching segment, 6 cM, so on the small side.  But they don’t match each other on any of the segments where I match both of them.

If they did match each other and me on the same locations, it would mean that we three have common ancestry.  This is another example of triangulation.

The fact that they match each other on one segment could also mean they have distant common ancestry, which could be from one of our common lines or a line that I don’t share with them, or it could mean they have an identical by state (IBS) segment, meaning they come from a common population someplace hundreds to thousands of years ago.

The real message here is that you can never, ever, assume.  We all know about assume, and if you do, it will.  In this case, assuming would have been easy if you didn’t have the big picture, because both of these family lines contain Millers from Ohio living in close proximity in the 1800s.  However these Miller lines have been proven not to be the same lines (via Yline testing) and therefore, any assumptions would have been incorrect, despite the suggestive location and in-common names. Furthermore, one Miller line married into my cousin Stacy’s line after our common ancestor, so is not blood related to me.  But conclusions are easy to jump to, especially for excited or inexperienced genetic genealogists.  It’s tempting even for those of us who are fairly seasoned now, but after you’ve been burned a few times, you do learn some modicum of restraint!

Downloading Your Raw Data

Downloading your raw data is not the same thing as using www.dnagedcom.com to download your chromosome start and stop locations for your matches.  Your raw data is just that, raw data.

It looks like this and it’s thousands and thousands of lines long. It’s your actual values at different DNA locations.  The rsid is the location on the reference human genome, followed by the chromosome number, the position address on that chromosome, and the nucleotide given to you by each of your parents.

# rsid  chromosome position    genotype

rs3094315    1        742429         AA

It’s doesn’t mean anything in this format, but after analyzing it using complex software, this information, combined, can tell you who you match, your ethnicity and more, of course.  You’ll want to do a couple of things with your raw data file.

First, use this link to download it.  They’ve hidden the link well on their site.  I can never find it, so I just keep this link handy.

https://www.23andme.com/you/download/

Consider uploading your raw data to www.gedmatch.com.  It’s a donation site (meaning free but donations accepted) created for genetic genealogists by genetic genealogists and it has a lot more tools than any of the testing companies alone.  Think of it as a genetic genealogy sandbox.  One of the benefits is that people from all 3 testing companies, 23andMe, Family Tree DNA and Ancestry.com can upload their data and compare to each other.  The down side is that many people don’t know about GedMatch and don’t utilize it.

Last, consider transferring your results to Family Tree DNA.  At Family Tree DNA, the people who test are interested in genealogy – they are genealogists or their family members.  You are much more likely to receive responses to inquiries and you don’t have to invite people and wait for acceptance.  Even when people don’t reply to your inquiries at Family Tree DNA, you can still utilize the comparison tools to compare up to any 5 of matches, seeing where they match you and each other.  I’ve utilized this tool numerous times, an example of which you can find in the Davenport article and the Autosomal Basics article.  To transfer your results to Family Tree DNA for $99, which is less than retesting, click on this link, then click on “Products.”

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Then scroll down to “Third Party” and the product you’re looking for is “Transfer Relative Finder” which used to be the name of the 23andMe products before they rearranged the furniture.nav 23andme 18

Happy swimming in the genetic genealogy pools. Let’s hope you meet some family there!

The Autosomal Me – The Holy Grail – Identifying Native Genealogy Lines

holy grail

Sangreal – the Holy Grail.  We are finally here, Part 9 and the final article in our series.  The entire purpose of The Autosomal Me series has been to use our DNA and the clues it holds to identify minority admixture, in this case, Native American, and by identifying those Native segments, and building chromosomal clusters, to identify the family lines that contributed that Native admixture.  Articles 1-8 in the series set the stage, explained the process and walked us through the preparatory steps.  In this last article, we apply all of the ingredients, fasten the lid, shake and see what we come up with.  Let’s take a minute and look at the steps that got us to this point.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.

Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.

In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In Part 6, “The Autosomal Me – DNA Analysis – Splitting Up” we began the analysis part of the data we’ve been gathering.   We looked at how to determine whether minority admixture on specific chromosomes came from which parent.

Part 7, “The Autosomal Me – Start, Stop, Go – Identifying Native Chromosomal Segments” took a deeper dive and focused on the two chromosomes with proven Native heritage and began by comparing those chromosome segments using the 4 GedMatch admixture tools.

Part 8, “The Autosomal Me – Extracting Data Segments and Clustering,” we  extract all of the Native and Blended Asian segments in all 22 chromosomes, but only used chromosomes 1 and 2 for illustration purposes.  We then clustered the resulting data to look for trends, grouping clusters by either the Strong Native criteria or the Blended Asian criteria.

In this final segment, Part 9, we will be applying the chromosomal information we’ve gathered to our matches and determine which of our lines are the most likely to have Native Ancestry.  This, of course, has been the goal all along.  So, drum roll…..here we go.

In Part 8, we ended by entering the start and stop locations of both Strong Native and Blended Asian clusters into a table to facilitate easy data entry into the chromosome match spreadsheet downloaded from either 23andMe or Family Tree DNA.  If you downloaded it previously, you might want to download it again if you haven’t modified it, or download new matches since you last downloaded the spreadsheet and add them to the master copy.

My goal is to determine which matches and clusters indicate Native ancestry, and how to correlate those matches to lineage.  In other words, which family lines in my family were Native or carry Native heritage someplace.

The good news is that my mother’s line has proven Native heritage, so we can use her line as proof of concept.  My father’s family has so many unidentified wives, marginalized families and family secrets that the Native line could be almost any of them, or all of them!  Let’s see how that tree shakes out.

Finding Matches

So let’s look at a quick example of how this would work.  Let’s say I have a match, John, on chromosome 4 in an area where my mother has no Native admixture, but I do.  Therefore, since John does not match my mother, then the match came from my father and if we can identify other people who also match both John and I in that same region on that chromosome, they too have Native ancestry.  Let’s say that we all also share a common ancestor.  It stands to reason at that point, that the common ancestor between us indicates the Native line, because we all match on the Native segment and have the same ancestor.  Obviously, this would help immensely in identifying Native families and at least giving pointers in which direction to look.  This is a “best case’ example.  Some situations, especially where both parents contribute Native heritage to the same chromosome, won’t be this straightforward.

Based on our findings, the maximum range and minimum (least common denominator or “In Common” range is as follows for the strongest Native segments on chromosomes 1 and 2.

  Chromosome 1 Chromosome 2
Largest   Range 162,500,000   – 180,000,000 79,000,000   – 105,000,000
Smallest   Range 165,658,091   – 171,000,000 90,000,000   – 103,145,425

At GedMatch

At GedMatch, I used a comparison tool to see who matched me on chromosome 1.  Only 2 people outside of immediate family members matched, and both from Family Tree DNA.  Both matched me on the critical Native segments between about 165-180mg.  I was excited.  I went to Family Tree DNA and checked to see if these two people also matched my mother, which would confirm the Native connection, but neither did, indicating of course that these two people matched me on my father’s side.  That too is valuable information, but it didn’t help identify any common Native heritage with my mother on chromosome 1.  It did, however, eliminate them as possibilities which is valuable information as well.

DNAGedcom

I used a new tool, DNAGedcom, compliments of Rob Warthen who has created a website, DNA Tools, at www.dnagedcom.com.  This wonderful tool allows you to download all of your autosomal matches at Family Tree DNA and 23andMe along with their chromosomal segment matches.  Since my mother’s DNA has only been tested at Family Tree DNA, I’m limiting the download to those results for now, because what I need is to find the people who match both she and I on the critical segments of chromosome 1 or 2.

Working with the Download Spreadsheet

It was disappointing to discover that my mother and I had no common matches that fell into this range on chromosome 1, but chromosome 2 was another matter.  Please note that I have redacted match surnames for privacy.

step 9 table 1

The spreadsheet above shows the comparison of my matches (pink) and Mother’s (white).  The Native segment of chromosome 2 where I match Mother is shaded mustard.  I shaded the chromosome segments that fell into the “common match” range in green.  Of those matches, there is only one person who matches both Mother and I, Emma.  The next step, of course, is to contact Emma and see if we can discover our common ancestor, because whoever it is, that is the Native line.  As you might imagine, I am chomping at the bit.

There are no segments of chromosome 2 that are unquestionably isolated to my father’s line.

Kicking it up a Notch

Are you wondering about now how something that started out looking so simple got so complex?  Well, I am too, you’re not alone.  But we’ve come this far, so let’s go that final leg in this journey.  My mom always used to say there was no point in doing something at all if you weren’t going to do it right.  Sigh….OK Mom.

The easiest way to facilitate a chromosome by chromosome comparison with all of your matches and your Strong Native and Blended Asian segments is to enter all of these segment groups into the match spreadsheet.  If you’re groaning and your eyes glaze over right after you do one big ole eye roll, I understand.

But let’s take a look at how this helps us.

On the excerpt from my spreadsheet below, for a segment of chromosome 5, I have labeled the people and how they match to me.  The ones labeled “Mom” in the last column are labeled that way because these people match both Mom and I.  The ones labeled “Dad” are labeled that way because I know that person is related on my father’s side.

Using the information from the tables created in Step 8, I entered the beginning and end of all matching segment clusters into my spreadsheet.  You can see these entries on lines 7, 8, 22, 23 and 24.  You then proceed to colorize your matches based on the entry for either Mom or Dad – in other words the blue row or the purple row, line 7, 22 or 24.  In this example, actually, line 5 Rex, based on the coloration, should have been half blue and half purple, but we’ll discuss his case in a minute.

The you can then sort either by match name or by chromosome to view data in both ways.  Let’s look at an example of how this works.

Legend:

  • White Rows:  Mother’s matches.  When Mother and I both match an individual, you’ll see the same matches for me in pink.  This double match indicates that the match is to Mother’s side and not Father’s side.
  • Pink Rows:  My matches.
  • Purple “Mom” labels in last column:  The individual matches both me and Mom.  This is a genetic match.
  • Teal “Dad” labels in last column: Genealogically proven to be from my father’s side.  This is a genealogical, not a genetic label, since I don’t have Dad’s DNA and can only infer these genetically when they don’t also match Mother.
  • Dark Pink Rows labeled “Me Amerind Only” are Strong Native or Blended Asian segments from Chromosome Table that I have entered.  My segments must come from one of my parents, so I’ve either colored them purple, if the match is someone who matches Mother and I both, or teal, if they don’t match both Mom and I, so by inference they come from my father’s line.
  • Dark Purple Rows labeled “Mom Amerind Only” are Mom’s segments from the Chromosome Table.
  • Dark Teal Rows labeled “Dad Amerind Only” are inferred segments belonging to my father based on the fact that Mother and I don’t share them.

Inferred Relationships

This is a good place to talk for just a minute about inferred relationships in this context.  Inference gets somewhat tenuous or weak.  The inferred matches on my father’s side began with the Native segments in the admix tools.  Some inferences are very strong, where Mother has no Native at all in that region.  For example, Mom has European and I have Native American.  No question, this had to come from my father.  But other cases are much less straightforward.

In many cases, categorization may be the issue.  Mom has West Asian for example and I have Siberian or Beringian.  Is this a categorization issue or is this a real genetic difference, meaning that my Siberian/Beringian is actually Native and came from my father’s side?

Other cases of confusion arise from segment misreads, etc.  I’ve actually intentionally included a situation like this below, so we can discuss it.  Like all things, some amount of common sense has to enter the picture, and known relationships will also weigh heavily in the equation.  How known family members match on other chromosome segments is important too.  Do you see a pattern or is this match a one-time occurrence?  Patterns are important.

Keep in mind that these entries only reflect STRONG Asian or Native signals, not all signals.  So even if Mother doesn’t have a strong signal, it doesn’t mean that she doesn’t have ANY signal in that region.  In some cases, start and stop segments for Mom and Dad overlapped due to very long segments on some matches.  In this case, we have to rely on the fact that we do have Mother’s actual DNA and assume that if they aren’t also a match to Mother, that what we are seeing is actually Dad’s lines, although this may not in actuality always be true.  Why?  Because we are dealing with segments below the matching threshold limit at both Family Tree DNA and 23andMe, and both of my parents carry Native heritage.  We can also have crossed a transitional boundary where the DNA that is being matched switches from Mom’s side to Dad’s side.

Ugh, you say, now that’s getting messy.  Yes, it is, and it has complicated this process immensely.

The Nitty-Gritty Data Itself

step 9 table 2

Taking a look at this portion of chromosome 5, we have lots going on in this cluster.  Most segments will just be boring pink and white (meaning no Native), but this segment is very busy.  Mom and I match on a small segment from 52,000,000 to 53,000,000.  Indeed, this is a very short segment when compared to the entire chromosome, but it is strongly Native.  We both also match Rex, our known cousin.  I’ve noted him with yellow in the table. Please note that Mom’s white matches are never shaded.  I am focused on determining where my own segments originate, so coloring Mother’s too was only confusing.  Yes, I did try it.

You can see that Mother actually shares all or any part of her segment with only me and Rex.  This simplifies matters, actually.  However, also note that I carry a larger segment in this region than does Mother, so either we have a categorization issue, a misread, or my father also contributed.  So, a conundrum.  This very probably implies that my father also carried Native DNA in this region.

Let’s see what Rex’s DNA looks like on this same segment of chromosome 5, from 52-53 using Eurogenes.  In the graph below, my chromosome is the top bar, Rex’s the middle and the bottom bar shows common DNA with the black nonmatching.  Yellow is Native American, red is South Asian, putty is Siberian, lime green is Mediterranean, teal is North Europe, orange is Caucus.

Step 9 item 3

This same comparison is shown to Mother’s DNA (top row) below.

step 9 item 4

It’s interesting that while Mother doesn’t have a lot of yellow (Native), she does have it throughout the same segment where Rex’s occurs, from about 52 through 53.5.

Does this actually point to a Native ancestor in the common line between Rex, Mom and I, which is the Swiss/German Johann Michael Miller line which does include an unidentified wife stateside, or does this simply indicate a common ancient population long ago in Asia?  It’s hard to say and is deserving of more research.  I feel that it is most likely Native because of the actual yellow, Native segment. If this was an Asian/European artifact, it would be much less likely to carry the actual yellow segment.

Is Rex also genealogically related to my father?  As I’ve worked through this process with all of my chromosomes and matches, I’ve really come to question if one of my father’s dead ends is also an ancestral line of my mother’s.

The key to making sense of these results is clusters.

Clusters vs Singleton Outliers

The work we’ve already done, especially in Step 8, clusters the actual DNA matching segments.  We’ve now entered that information into the spreadsheet and colored the segments of those who match.  What’s next?

The key is to look for people with clusters.  Many matches will have one segment, of say, 10 that match, colored.  Unless this is part of a large chromosome cluster, it’s probably simply an outlier.  Part of a large chromosome cluster would be like the large Strong Native segments on chromosome 1 or 2, for example.  How do we tell if this is a valid match or just an outlier?

Sort the spreadsheet by match name.  Take a look at all of the segments.

The example we’ll use is that of my cousin, Rex.  If you recall, he matches both me and Mother, is a known first cousin twice removed to me, (genetically equal to a second cousin), and is descended from the Miller line.

In this example, I also colored Mother’s segments because I wanted to see which segments that I did not receive from her were also Native. You can see that there are many segments where we all match and several of those are Native.  These also match to other Miller descendants as well, so are strongly indicative of a Native connection someplace in our common line.

If we were only to see one Native segment, we would simply disregard this as an outlier situation.  But that’s not the case.  We see a cluster of matches on various segments, we match other cousins from the same line on these segments, and reverting back to the original comparison admixture tools verifies these matches are Native for Rex, Mom and me.

step 9 item 5

Hmmmm…..what is Dad’s blue segment color doing in there?  Remember I said that we are only dealing with strong match segments?  Well, Mom didn’t have a strong segment at that location and so we inferred that Dad did.  But we know positively that this match does come from Mother’s side.  I also mentioned that I’ve come to wonder if my Mom and Dad share a common line.  It’s the Miller line that’s in question.  One of Johann Michael Miller’s children, Lodowick, moved from Pennsylvania to Augusta County, Virginia in the 1700s and his line became Appalachian, winding up in many of the same counties as my father’s family.  I’m going to treat this as simply an anomaly for now, but it actually could be, in this case, an small indication that these lines might be related.  It also might be a weak “Mom” match, or irrelevant.  I see other “double entries” like this in other Miller cousins as well.

What is the pink row on chromosome 12?  When I grouped the Strong Native and Asian Clusters, sometimes I had a strong grouping, and Mom had some.  The way I determined Dad’s inferred share was to subtract what Mom had in those segments from mine.  In a few cases, Mom didn’t have enough segments to be considered a cluster but she had enough to prevent Dad from being considered a cluster either, so those are simply pink, me with no segment coloring for Mom or Dad.

Let’s say I carry Strong Native/Mixed Asian at the following 8 locations:

10, 12, 14, 16, 18, 20, 22, 24

This meets the criteria for 8 of 15 ethno-geographic locations (in the admix tools) within a 2.5 cM distance of each other, so this cluster would be included in the Mixed Asian for me.  It could also be a Strong Native cluster if it was found in 3 of 4 individual tools.  Regardless of how, it has been included.

Let’s now say that Mom carries Native/Mixed Asian at 10, 12 and 14, but not elsewhere in this cluster.

Mom’s 3 does not qualify her for the 8/15 and it only leaves Dad with 5 inferred segments, which disqualifies him too.  So in this case, my cluster would be listed, but not attributable directly to either parent.

What this really says is that both of my parents carry some Native/Blended Asian on this segment and we have to use other tools to extrapolate anything further.  The logic steps are the same as for Dad’s blue segment.  We’re going to treat that as an outlier.  If I really need to know, I can go back to the actual admixture tools and see whether Mom or Dad really match me strongly on which segments and how we compare to Rex as well.  In this case, it’s obvious that this is a match to my Mother’s side, so I’m leaving well enough alone.

Let’s see what the matches reveal.

Matches

Referring back to the Nitty Gritty Data spreadsheet, Mom’s match to Phyllis on row 15 confirms an Acadian line.  This is the known line of Mother’s Native ancestry.  This makes sense and they match on Native segments on several other chromosomes as well.  In fact, many of my and Mother’s matches have Acadian ancestry.

My match to row 19, Joy, is a known cousin on my father’s side with common Campbell ancestry.  This line is short however, because our common ancestor, believed to be Charles Campbell died before 1825 in Hawkins County, TN.  He was probably born before 1750, given that his sons were born about 1770 and 1772.  Joy and I descend from those 2 sons.  Charles wife and parents are unknown, as is his wife.

My match to row 20, inferred through my father’s side, is to a Sizemore, a line with genetically proven Native ancestry.  Of course, this needs more research, but it may be a large hint.  I also match with several other people who carry Sizemore ancestors.  This line appears to have originated near the NC/VA border.

I wanted to mention rows 4 and 17.  Using our rules for the spreadsheet, if I match someone and they don’t also match Mother on this segment, I have inferred them to be through my father.  These are two instances that this is probably incorrect.  I do match these people through Mother, but Mother didn’t carry a strong signal on this segment, so it automatically became inferred to Dad.  Remember, I’m only recording the Strong Native or the Blended Asian segments, not all segments.  However, I left the inferred teal so that you can see what kinds of judgment calls you’ll have to make.  This also illustrates that while Mom’s genetic matches are solid, Dad’s inferred matches are less so and sometimes require interpretation.  The proper thing to do in this instance would be to refer back to the original admixture tools themselves for clarification.

Let’s see what that shows.

step 9 item 6

Using HarrappaWorld, the most pronounced segment is at about 52.  Teal is American.  You can see that Mother has only a very small trace between 53 and 54, almost negligible.  Mother’s admixture at location 52 is two segments of purple, brown and cinnamon which translate to Southwest Asian (lt purple), Mediterranean (dk purple), Caucasian (brown) and Balock (cinnamon), from Pakistan.

Checking Dodecad shows pretty much the same thing, except Mother’s background there is South Asian, which could be the same thing as Caucus and Pakistan, just different categorizations.

In this case, it looks like the admixture is not a categorization issue, but likely did come from my father.  Each segment will really be a case by case call, with only the strongest segments across all tools being the most reliable.

It’s times like this that we have to remember that we have two halves of each chromosome and they carry vastly different information from each of our parents.  Determining which is which is not always easy.  If in doubt, disregard that segment.

Raw Numbers

So, what, really did I figure out after all of this?

First, let’s look at some numbers.

I was working with a total of 292 people who had at least one chromosomal segment that matched me with a Strong Native or Blended Asian segment.  Of those, 59 also matched Mom’s DNA.  Of those, 18 had segments that matched only Mom.  This means that some of them had segments that also matched my father.  Keep in mind, again, that we are only using “strong matches” which involves inferring Dad’s segments and that referring back to the original tools can always clarify the situation.  There seems to be some specific areas that are hotspots for Native ancestry where it appears that both of my parents passed Native ancestry to me.

Many of my and my mother’s 59 matches have Acadian ancestry which is not surprising as the Acadians intermarried heavily with the Native population as well as within their own ethnic group.

Several also have Miller Ancestry.  My Miller ancestor is Johann Michael Miller (1692-1771) who immigrated in the colonial period and settled on the Pennsylvania frontier.  His son, Philip Jacob Miller’s (1726-1799) wife was a woman named Magdalena whose last name has been rumored for years to be Rochette, but no trace of a Rochette family has ever been found in the county where they lived, region or Brethren church history…and it’s not for lack of looking.  Several matches point to Native Ancestry in this line.  This also begs the question of whether this is really Native or whether it is really the Asian heritage of the German people.  Further analysis, referring back to the admixture tools, suggests that this is actually Native. It’s also interesting that absolutely none of Mother’s other German or Dutch lines show this type of ancestry.

There is no suggestion of Native ancestry in any of her other lines.  Mother’s results are relatively clean.  Dad’s are anything but.

Dad’s Messy Matches

My father’s side of the family, however, is another story.

I have 233 matches that don’t also match my mother.  There can be some technical issues related to no-calls and such, but by and large, those would not represent many.  So we need to accept that most of my matches are from my Father’s side originating in colonial America.  This line is much “messier” than my mother’s, genealogically speaking.

Of those 233 matches, only 25 can be definitely assigned to my father.  By definitely assigned, I mean the people are my cousins or there is an absolutely solid genealogical match, not a distant match.  Why am I not counting distant matches in this total?  We all know by virtue of the AncestryDNA saga that just because we match family lines and DNA does NOT mean that the DNA match is the genealogical line we think it is.  If you would like to read all about this, please refer to the details in CeCe Moore’s blog where she discussed this phenomenon.  The relevant discussion begins just after the third photo in this article where she shows that 3 of 10 matches at Ancestry where they “identify” the common DNA ancestor are incorrect.  Of course, they never SAY that the common ancestor is the DNA match, but it’s surely inferred by the DNA match and the “leaf” connecting these 2 people to a common ancestor.  It’s only evident to someone who has tested at least one parent and is savvy enough to realize that the individual whose ancestor on Mom’s side that they have highlighted, isn’t a match to Mom too.  Oops.  Mega-oops!!!

However, because we are dealing in our project, on Dad’s side, with inferences, we’re treading on some of the same ground.  Also, because we are dealing with only “strong clustered” segments, not all Native or Asian segments and because it appears that my parents both have Native ancestry.  To make matters worse, they may both have Algonquian, Iroquoian or both.

I have also discovered during this process that several of my matches are actually related to both of my parents.  I told you this got complex.

Of the people who don’t match Mother, 32 of them have chromosomal matches only to my father, so those would be considered reliable matches, as would the closest ones of the 25 that can be identified genealogically as matching Dad.  Many of these 25 are cousins I specifically asked to test, and those people’s results have been indispensable in this process.

In fact, it’s through my close circle of cousins that we have been able to eliminate several lines as having Native ancestry, because it doesn’t’ show as strong and they don’t have it either.

Many of these lines group together when looking at a specific chromosome.  There is line after line and cousin after cousin with highlighted data.

Dad’s Native Ancestors

So what has this told me?  This information strongly suggests that the following lines on my father’s side carry Native heritage.  Note the word “carry.”  All we can say at this point is that it’s in the soup – and we can utilize current matches at our testing company and at GedMatch, genealogy research and future matches to further narrow the branches of the tree.  Many of these families are intermarried and I have tried to group them by marriage group.  Obviously, eventually, their descendants all intermarried because they are all my ancestors on my father’s side.  But multiple matches to other people who carry the Native markers but aren’t related to my other lines are what define these as lines carrying Native heritage someplace.

  • Campbell – Hawkins County, Tn around 1800, missing wife and parents, married into the Dodson family
  • Dodson – Hawkins County, Tn, Virginia – written record of Lazarus Dodson camping with the Cherokee – missing wife, married into the Campbell and Estes family
  • Claxton/Clarkson – Russell Co., Va, Claiborne and Hancock Co., Tn – In NC associated with the known Native Hatcher family.  Possibly a son-in-law.  Missing family entirely.
  • Cook – Russell Co., Va. – daughter married Claxton/Clarkson – missing wives
  • Harrold, Harrell, Herrell – Hancock Co., Tn., Wilkes Co., NC – missing wives
  • McDowell – Hancock Co. Tn, Wilkes Co., NC, Augusta Co., Va – married into the Harrell family, missing wife
  • McNeil, McNiel – Wilkes Co., NC – missing wives, married into the Vannoy family
  • Vannoy – Wilkes County – some wives unaccounted for pre-1800
  • Crumley – Greene County, Tn., Lee Co., Va. – oral history of Native wife, married into the Vannoy family
  • Brown – Greene County, Tn, Montgomery Co., Va – married into the Crumley family, missing wives

While this looks like a long list, the list of families that don’t have any Native ancestry represented is much longer and effectively serves to eliminate all of those lines.  While I don’t have “THE” answer, I certainly know where to focus my research.  Maybe there isn’t the one answer.  Maybe there are multiple answers, in multiple lines.

The Take Away

Is this complex?  Yes!  Is it a lot of work?  You bet it is!  Is everything cast in concrete?  Never!  You can see that by the differences we’ve found in data interpretation, not to mention issues like no-calls (areas that for some reason in the test don’t read) and cross overs where your inheritance switches from your mom’s side to your dad’s side.  Is there any other way to do this?  No, not if your minority admixture is down in that weedy area around 1%.

Is it worth it?  You’ll have to decide.  It guess it depends on how desperately you want to know.

Part of the reason this is difficult is because we are missing tools in critical locations.  It’s an intensively laborious manual process.  In essence, using various tools, one has to figure out the locations of the Native and Asian chromosome segments and then use that information to infer Native matches by a double match (genetic match at DNA company plus match with Strong Native/Blended Asian segment) with the right parent.  It becomes even more complex if neither parent is available for testing, but it is doable although I would think the reliability could drop dramatically.

Tidbits and Trivia

I’ve picked up a number of little interesting tidbits during this process.  These may or may not be helpful to you.  Just kind of file them away until needed:)

  • Matches at testing companies come and go….and sometimes just go.  At Family Tree DNA, I have some matches that must be trembling on the threshold that come and go periodically.  Now you see them, now you don’t.  I lost matches moving from the Affy chip to the Illumina chip and lost additional matches between Build 36 and 37.  Some reappeared, some haven’t.
  • The start and stop boundaries changed for some matches between build 36 and build 37.  I did not go back and readjust, as most of these, in the larger scheme of things, were minor.  Just understand that you are looking for  patterns here that indicate Native heritage, not exact measurements.  This process is a tool, and unfortunately, not a magic wand:)
  • The centromere locations change between builds.  If you have matches near or crossing the middle of the chromosome, called the centromere, there may be breaks in that region.  I enter the centromere start and stop locations in my spreadsheet so that if I notice something odd going on in that region, the centromere addresses are right there to alert me that I’m dealing with that “odd” region.  You can find the centromere addresses in the FAQ at Family Tree DNA for their current build.
  • At 23andMe, when you reach the magic 1000 matches threshold, you start losing matches and the matching criteria is elevated so that you can stay under 1000 matches.  For people with colonial American or Jewish heritage, in other words those with high numbers of matches, this is a problem.
  • Watch for matches that are related to both sides of your family.  If your family lived in colonial America, you’re going to have a lot of matches and many are probably related to each other in ways you aren’t aware of.
  • If your parents are related to each other, this process might simply be too complex and intertwined to provide enough granular data to be useful.
  • Endogamous groups are impossible to sort through as to where, meaning which ancestor, the DNA came from.  This is because the original group founders’ DNA is just getting passed around and around, with little or no new DNA being introduced.  The effect of this on downstream generations relative to genetic genealogy is that matches appear to be more closely related than they are because of the amount of matching DNA they carry.  For my Brethren and my Acadian groups of people, I just list them by the group name, since, as the saying goes, “if you’re related to one Acadian, you’re related to all Acadians.”
  • If you’re going to follow this procedure, save one spreadsheet copy with the Strong Native only and then a second one with both the Strong Native and Blended Asian.  I’m undecided truthfully whether the Mixed Asian adds enough resolution for the extra work it generates.
  • When in question, refer back to the original tools.  The answer will always be found there.
  • Unfortunately, tools change.  You may want to take screen shots.  During this process, FTDNA went from build 36 to 37, match thresholds changed, 23andMe introduced a new user interface (which I find much less intuitive) and GedMatch has made significant changes.  The net-net of this is when you decide to undertake this project, commit to it and do it, start to finish.  Doing this little by little makes you vulnerable to changes that may make your data incompatible midstream – and you may not even realize it.
  • This entire process is intensively manual.  My spreadsheet is over 5500 rows long.  I won’t be doing it again…although I will update my spreadsheet with new matches from time to time.  The hard work is already done.
  • This same technique applies to any minority ancestry, not just Native, although that’s what I’ve been hunting for and one of the most common inquiries I receive.
  • I am hopeful that in the not too distant future many of these steps and processes will be automated by the group of bright developers that contribute to GedMatch or via other tools like DNAGedcom. HINT – HINT!!!

I would like to follow this same process to identify the source of my African heritage, but I’m thinking I’ll wait for the tools to become automated.  The great irony is that it’s very likely in the same lines as my Native ancestors.

If You Want to Test

What does it take to do this for yourself using the tools we have today, as discussed?

If your parents are living, the best gift you can give yourself is to test them, now, while you still can.  My mother has been gone for several years, but her DNA archived at Family Tree DNA was still viable.  This is not always the case.  I was fortunate.  Her DNA is one of the best gifts she gave me.  Not just by inheritance, but by having hers tested.  I thank her every single day, for both!  I could not have written this article without her DNA results.  The gift that keeps on giving.

If you don’t have a parent to test, you can test several other family members who will provide some information, but clearly won’t carry the same amounts of common DNA with you as your parents.  These would include your aunts and uncles, your parents’ siblings and what I’ve referred to as your close cousin circle.  Attempt to test at least someone from each line.  Yes, it gets expensive, but as one of my cousins said, as she took her third or 4th DNA test.  “It’s only money.  This is about family.”

You can also test your own siblings as well to obtain more information that you can use to match up to your family lines. Remember, you only receive half of your parents DNA, and your siblings will received some DNA from your parents that you didn’t.

I don’t have any other siblings to test, but I have tested cousins from several lines which have proven invaluable when trying to discern the sources of certain segments. For example, one of these Native segments fell on a common segment with my cousin Joy.  Therefore, I know it’s from the Campbell line, and because I have the Campbell paternal Y-DNA which is European, I know immediately the Native admixture would have had to be from a wife.

Much of this puzzle is deductive, but we now have the tools, albeit manual, to do this type of work that was previously impossible.  I am somewhat disappointed that I can’t pinpoint the exact family lines, yet, but hopefully as more people test and more matches provide genealogical information, this will improve.

If you want to play in this arena, you need to test at either Family Tree DNA, 23andMe, or both.  Right now, the most cost effective way to achieve this is to purchase a $99 kit from 23andMe, test there, then download your results from 23andMe and upload them to Family Tree DNA for $99.  That way, you are fishing in both pools.  Be aware that less than half of the people who test at either company download results to GedMatch, so your primary match locations are with the testing companies.  GedMatch is auxiliary, but critical for this analysis.  And the newest tool, DNAGedcom is a Godsend.

Also note that transferring your result to Family Tree DNA is NOT the same thing as actually testing there.  Why does this matter?  If you want a future test at Family Tree DNA, who is the premiere genetic genealogy testing company, offering the most variety and “deepest” commercial tests, they archive your DNA for 25 years, but if you transfer results, they don’t have your DNA to archive, so no future products can be ordered.  All I can say is thank Heavens Mom’s DNA was there.

Ancestry.com doesn’t provide any tools such as the chromosome browser or even the basic information of matching segments.  All you get is a little leaf that says you’re related, but the questions of which segment or how are not answerable today at Ancestry and as CeCe’s experience proved, its unreliable.  It’s  possible that you share the same surnames and ancestor, but your genetic connection is not through that family line.  Without tools, there is no way to tell.  Ancestry released raw data files a few weeks ago and very recently, GedMatch has implemented the ability to upload them so that Ancestry participants can now utilize the additional tools at GedMatch.

Although this has been an extraordinarily long and detailed process, I can’t tell you how happy I am to have developed this new technique to add to my toolbox.  My Native and African ancestors have been most elusive.  There are no records, they didn’t write and probably didn’t even speak English, certainly not initially.  The only clues to their existence, prior to DNA, were scant references and family lore.  The only prayer of actually identifying them is though these small segments of our DNA – yep – down in the weeds.  Are there false starts perhaps, and challenges and maybe a few snakes down there?  Yes, for sure, but so is the DNA of your ancestors.

Happy gardening and rooting around in the weeds.  Just think of it as searching for the very best buried treasure!  It’s down there, just waiting to be found.  Keep digging!

I hope you’ve enjoyed this series and that it leads you to your own personal genealogical treasure trove!

treasure chest