Focus Your DNA Efforts on Your Brick Wall and Use Coupons to Help

You still have time to order that DNA kit in time for the holidays.

Even if you don’t have someone in mind to give it to immediately, stockpile while on sale so that you have one handy when you need it.  And you WILL need them – guaranteed – hopefully sooner than later.

I offered to pay for three tests last night.  So far, I haven’t heard back, but hey, it’s still early!!!

Truth is, it’s really more a gift for you than it is for them, but I won’t tell if you won’t.

What I’d like for you to do is to think about your most favorite, or maybe that should be your least favorite, brick wall.

The one you’d really like to fall.

For many of us, that’s the one closest to us in time. Or maybe it the one most long-standing.

Think about how DNA might be able to help you break through that brick wall, or at least reveal more information about that person, which in turn might help you break down that brick wall. After all, you don’t know what you don’t know.

Here what to do.

What Do You Want to Know?

I’m going to use my Nancy Moore for an example.  We know she married John R. Estes on November 25, 1811 in Halifax County, Virginia and around 1820, she and John headed for Claiborne County, Tennessee.  Nancy’s parents were the Reverend William Moore and his wife, Lucy, whose surname we don’t know.  Of course, that also means we don’t know anything else about Lucy’s heritage.

For Nancy Moore, I’d really like to know about her mother’s heritage and her father’s line as well. Like they say, for every brick all you break down, you get two more as a reward!

Paternal Lines

Because information about the patrilineal line can be gleaned from Y DNA inherited by males from their fathers, Nancy’s descendants can’t test directly, but descendants of her brothers can – and have.  We have the Y DNA of Nancy’s brothers’ descendants from two different lines – so confirming that their common ancestor, Nancy’s father, also carried that same Y DNA.

In this case, we’re waiting for additional Moore Y DNA matches from someone whose ancestor goes further back in time than our known Moore line.  I’m beginning to wonder if our Moore line was really a different surname in the colonies – meaning that somehow the DNA and the surname got separated, forming a “new” Moore line.  We have few Moore matches and only through known descendants of William or his brothers, but then again we don’t have any close, high quality matches to other surnames either.

Matches provided through Y DNA testing are invaluable, because they help you focus on the direct line paternal genealogy.

While waiting for those matches to materialize, I could offer to purchase an upgrade to the autosomal Family Finder test for any or all of the Moore cousins who have already tested. That might help immensely.

If you don’t have the Y DNA of a paternal line, check your Family Finder matches at Family Tree DNA, or your matches at Ancestry, particularly if you have a Circle for that ancestor, and see if there is a male by that surname who would consider taking a Y DNA test.  MyHeritage has a search function for matches and trees.

Review the trees for your DNA matches and see if you can run any male line forward using genealogy and then contact currently living people, asking if they are interested in genealogy.

I never broach the subject with DNA, just with a general inquiry.  If you can’t generate any interest, they aren’t likely to test anyway. Ask about or offer to share photos if you have any. That’s always a good ice breaker. Inquire about oral history too.  Even if they aren’t interested in DNA testing, stories are a goldmine of their own.

When I find a candidate, I simply offer to purchase the DNA test.  I don’t want them to hesitating even for a minute while thinking about price. I explain that I have a testing scholarship for that line.

In the chart below, you can see that Y DNA is passed along the direct paternal blue line and mitochondrial DNA is passed along the matrilineal red line.  Neither the Y or mitochondrial DNA is ever mixed with the DNA of the other parent, so it acts as a direct line periscope peering far back into time. A veritable gift direct from your ancestors.

Matrilineal Line

Nancy Moore and her mother Lucy are complete blank slates. I hate that.

As with so many other early lines, there’s always that rumor of Native heritage. That rumor seems to be very prevalent when a female’s surname is unknown, and I suspect that “must be Indian” became a very early “reason” for not knowing or being able to find a female’s surname.

I suspect that comment got recorded as fact, and here we are today with many rumors and still no surname. But now, we have another avenue to pursue.

A mitochondrial DNA (mtDNA) test on Nancy’s descendants who descend from either Nancy or her mother through all females to the current generation would do multiple things for me.

  • I would immediately be able to confirm or refute the possibility of Native American ancestry in that line. Lucy, Nancy’s mother was probably born about 1750, someplace in Virginia, so Native ancestry is possible, if not probable.
  • DNA matches to other people could be useful, either directly in terms of matching or in the larger picture showing me likely areas that Nancy and Lucy’s ancestors lived before immigrating to what became the US. Am I looking at a German family, an English line, or what exactly? Looking at the mapped locations of the matches of Nancy’s descendants may help identify a location.  And that’s far more than you knew before testing.  Testers receive a wealth of information with a mitochondrial DNA test.

For example, here’s what I learned about my own mitochondrial DNA line.

Women pass their mtDNA to all of their children, but only females pass it on.  This means that men in the current generation can test for mitochondrial DNA as well.

Autosomal DNA

Cousins are the key to autosomal DNA which provides matching across all of your ancestral lines – assuming at least some relatives have tested.  Therefore, you need to test as many cousins as you can find and talk into testing.

Why?

Because those cousins will match you, and/or each other, on different parts of your ancestor’s DNA.  Barring a second unknown line, the common ancestors are your common couple, in this case, William Moore and Lucy, Nancy’s parents.

My goal is to find and test as many descendants of Nancy and of her siblings as possible. When unknown matches match to multiple Moore cousins, especially on the same segment, that’s a huge hint as to which line we all descend from.

Cousin matching is how brick walls fall.

After enough cousins have tested, I will begin to see repeats of matching to some family who is unknown to me.  For example, let’s say that I see the surname Henderson repeatedly in the matches descending from both Nancy’s descendants and Nancy’s siblings’ descendants.

That’s a powerful hint as to where I should look for either Lucy’s ancestry, or maybe William Moore’s.

The power of numbers, meaning in terms of cousins testing, is exactly how breakthroughs occur utilizing autosomal DNA.

Another benefit of autosomal testing is that you can make one test work for you in multiple ways.

Transfers

Some cousins may have already tested elsewhere.  If that’s the case, ask if they will test at your favorite vendor, or transfer their DNA to that vendor, if your vendor accepts transfers.  For a list of which companies accept transfers from who, click here.

Transfers to both Family Tree DNA and GedMatch are free, and both offer advanced tools for either a minimal one-time cost of $19 at Family Tree DNA or a minimal monthly subscription of $10 at GedMatch. There are many tools at both sites for free, and since not everyone uploads to either site, you should have the DNA you need to work with at both.

Who To Test?

Still trying to figure out who to test?

These articles will help:

Family Tree DNA Coupons

It’s Monday during the holiday season, so that means it’s coupon day, courtesy of Family Tree DNA.  If you can use one of my coupons below to help focus on your goals, please do. If you are currently a Family Tree DNA customer, you have a coupon on your own page as well.

I just noticed, shipping is reduced too through 12-15-2017, so that’s an additional way to save. Return postage is included within the US.

Click here to check your coupons, or redeem mine!

Please feel free to add any of your own unused coupons that you’d like to share in the comments of this article.

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate.  If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase.  Clicking through the link does not affect the price you pay.  This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc.  In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received.  In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product.  I only recommend products that I use myself and bring value to the genetic genealogy community.  If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Imputation Matching Comparison

In a future article, I’ll be writing about the process of uploading files to DNA.Land and the user experience, but in this article, I want to discuss only one topic, and that’s the results of imputation as it affects matching for genetic genealogy. DNA.Land is one of three companies known positively to be using imputation (DNA.Land, MyHeritage and LivingDNA), and one of two that allows transfers and does matching for genealogy

This is the second in a series of three articles about imputation.

Imputation, discussed in the article, Concepts – Imputation, is the process whereby your DNA that is tested is then “expanded” by inferring results you don’t have, meaning locations that haven’t been tested, by using information from results you do have. Vendors have no choice in this matter, as Illumina, the chip maker of the DNA chip widely utilized in the genetic genealogy marketspace has obsoleted the prior chip and moved to a new chip with only about 20% overlap in the locations previously tested. Imputation is the methodology utilized to attempt to bridge the gap between the two chips for genetic genealogy matching and ethnicity predications.

Imputation is built upon two premises:

1 – that DNA locations are inherited together

2 – that people from common populations share a significant amount of the same DNA

An example of imputation that DNA.Land provides is the following sentence.

I saw a blue ca_ on your head.

There are several letters that are more likely that others to be found in the blank and some words would be more likely to be found in this sentence than others.

A less intuitive sentence might be:

I saw a blue ca_ yesterday.

DNA.Land doesn’t perform DNA testing, but instead takes a file that you upload from a testing vendor that has around 700,000 locations and imputes another 38.3 million variants, or locations, based on what other people carry in neighboring locations. These numbers are found in the SNPedia instructions for uploading DNA.Land information to their system for usage with Promethease.

I originally wrote about Promethease here, and I’ll be publishing an updated article shortly.

In this article, I want to see how imputation affects matching between people for genetic genealogy purposes.

Genetic Genealogy Matching

In order to be able to do an apples to apples comparison, I uploaded my Family Tree DNA autosomal file to DNA.Land.

DNA.Land then processed my file, imputed additional values, then showed me my matches to other people who have also uploaded and had additional locations imputed.

DNA.Land has just over 60,000 uploads in their data base today. Of those, I match 11 at a high confidence level and one at a speculative level.

My best match, meaning my closest match, Karen, just happened to have used her GedMatch kit number for her middle name. Smart lady!

Karen’s GedMatch number provided me with the opportunity to compare our actual match information at DNA.Land, then also at GedMatch, then compare the two different match results in order to see how much of our matching was “real” from portions of our tested kits that actually match, and what portion of our DNA matches as a result of the DNA.Land imputation.

At DNA.Land, your match information is presented with the following information:

  • Relationship degree – meaning estimated relationship
  • # shared segments – although many of these are extremely small
  • Total shared cM
  • Total recent shared length in cM
  • Longest recent shared segment in cM
  • Relationship likelihood graph
  • Shared segments plotted on chromosome display
  • Shared segments in a table

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

DNA.Land provides what they believe to be an accurate estimate of recent and anciently shared SNA segments.

The match table is a dropdown underneath the chromosome graphic at far right:

For this experiment, I copied the information from the match table and dropped it into a spreadsheet.

DNALand Match Locations

My match information is shown at DNA.Land with Karen as follows:

Matching segments are identified by DNA.Land as either recent or ancient, which I find to be over-simplified at best and misleading or inaccurate at worst. I guess it depends on how you perceive recent and ancient. I think they are trying to convey the concept that larger segments tend to me more recent, and smaller segments tend to be older, but ancient in the genetics field often refers to DNA extracted from exhumed burials from thousands of years ago.  Furthermore, smaller segments can be descended from the same ancestor as larger segments.

GedMatch Match

Since Karen so kindly provided her GedMatch kit number, I signed in to GedMatch and did a one-to-one match with this same kit.

Since all of the segments are 3 cM and over at DNA.Land, I utilized a GedMatch threshold of 3 cM and dropped the SNP count to 100, since a SNP count of 300 gave me few matches. For this comparison, I wanted to see all my matches to Karen, no matter how few SNPs are involved, in an attempt to obtain results similar to DNA.Land. I normally would not drop either of these thresholds this low. My typical minimum is 5cM and 500 SNPs, and even if I drop to 3cM, I still maintain the 500 SNP threshold.

Let’s see how the data from GedMatch and DNA.Land compares.

In my spreadsheet, below, I pasted the segment match information from DNA.Land in the first 5 columns with a red header. Note that DNA.Land does not provide the number of shared SNPs.

At right, I pasted the match information from GedMatch, with a green header. We know that GedMatch has a history of accurately comparing segments, and we can do a cross platform comparison. I originally uploaded my FTDNA file to DNA.Land and Karen uploaded an Ancestry file. Those are the two files I compared at GedMatch, because the same actual matching locations are being compared at both vendors, DNA.Land (in addition to imputed regions) and GedMatch.

I then copied the matching segments from GedMatch (3cM, 100 SNPs threshold) and placed them in the middle columns in the same row where they matched corresponding DNA.Land segments. If any portion of the two vendors segments overlapped, I copied them as a match, although two are small and partial and one is almost negligible. As you can see, there are only 10 segments with any overlap at all in the center section. Please note that I am NOT suggesting these are valid or real matches.  At this point, it’s only a math/match exercise, not an analysis.

The match comparison column (yellow header) is where I commented on the match itself. In some cases, the lack of the number of SNPs at DNA.Land was detrimental to understanding which vendor was a higher match. Therefore, when possible, I marked the higher vendor in the Match Comparison column with the color of their corresponding header.

Analysis

Frankly, I was shocked at the lack of matching between GedMatch and DNA.Land. Trying to understand the discrepancy, I decided to look at the matches between Karen, who has been very helpful, and me at other vendors.

I then looked at our matches at Ancestry, 23andMe, MyHeritage and at Family Tree DNA.

The best comparison would be at Family Tree DNA where Karen loaded her Ancestry file.  Therefore, I’m comparing apples to apples, meaning equivalent to the comparison at GedMatch and DNA.Land (before imputation).

It’s impossible to tell much without a chromosome browser at Ancestry, especially after Timber processing which reduces matching DNA.

DNA.Land categorized my match to Karen as “high certainty.” My match with Karen appears to be a valid match based on the longest segment(s) of approximately 30cM on chromosome 8.

  • Of the 4 segments that DNA.Land identifies as “recent” matches, 2 are not reflected at all in the GedMatch or Family Tree DNA matching, suggesting that these regions were imputed entirely, and incorrectly.
  • Of the 4 segments that DNA.Land identifies as “recent” matches, the 2 on chromosome 8 are actually one segment that imputation apparently divided. According to DNA.LAND, imputation can increase the number of matching segments. I don’t think it should break existing segments, meaning segments actually tested, into multiple pieces. In any event, the two vendors do agree on this match, even though DNA.Land breaks the matching segment into two pieces where GedMatch and Family Tree DNA do not. I’m presuming (I hate that word) that this is the one segment that Ancestry calls as a match as well, because it’s the longest, but Ancestry’s Timber algorithm downgrades the match portion of that segment by removing 11cM (according to DNA.Land) from 29cM to 18cM or removes 13cM (according to both GedMatch and Family Tree DNA) from 31cM to 18cM. Both GedMatch and Family Tree DNA agree and appear to be accurate at 31cM.
  • Of the total 39 matching segments of any size, utilizing the 3cM threshold and 100 SNPs, which I set artificially very low, GedMatch only found 10 matching segments with any portion of the segment in common, meaning that at least 29 were entirely erroneous matches.
  • Resetting the GedMatch match threshold to 3 cM and 300 SNPS, a more reasonable SNP threshold for 3cM, GedMatch only reports 3 matching segments, one of which is chromosome 8 (undivided) which means at this threshold, 36 of the 39 matching DNA.Land segments are entirely erroneous. Setting the threshold to a more reasonable 5cM or 7cM and 500 SNPs would result in only the one match on chromosome 8.

  • If 29 of 39 segments (at 3cM 100 SNPs) are erroneously reported, that equates to 74.36% erroneous matches due to imputation alone, with out considering identical by chance (IBC) matches.
  • If 35 of 39 segments (at 3cM 300 SNPs) are erroneously reported, that equates to 89.74% percent erroneous matches, again without considering those that might be IBC.

Predicted vs Actual

One additional piece of information that I gathered during this process is the predicted relationship.

Vendor Total cM Total Segments Longest Segment Predicted Relationship
DNA.Land 162 to 3 cM 39 to 3 cM 17.3 & 12, split 3C
GedMatch 123 to 3 cM 27 to 3 cM 31.5 5.1 gen distant
Family Tree DNA 40 to 1 cM 12 to 1 cM 32 3-5C
MyHeritage No match No match No match No match
Ancestry 18.1 1 18.1 5-8C
23andMe 26 1 26 3-6C

Karen utilized her Ancestry file and I used my Family Tree DNA file for all of the above matching except at 23andMe and Ancestry where we are both tested on the vendors’ platform. Neither 23andMe nor Ancestry accept uploads. I included the 23andMe and Ancestry comparisons as additional reference points.

The lack of a match at MyHeritage, another company that implements imputation, is quite interesting. Karen and I, even with a significantly sized segment are not shown as a match at MyHeritage.

If imputation actually breaks some matching segments apart, like the chromosome 8 segment at DNA.Land, it’s possible that the resulting smaller individual segments simply didn’t exceed the MyHeritage matching threshold. It would appear that the MyHeritage matching threshold is probably 9cM, given that my smallest segment match of all my matches at MyHeritage is 9cM. Therefore, a 31 or 32 cM segment would have to be broken into 4 roughly equally sized pieces (32/4=8) for the match to Karen not to be detected because all segment pieces are under 9cM. MyHeritage has experienced unreliable matching since their rollout in mid 2016, so their issue may or may not be imputation related.

The Common Ancestor

At Family Tree DNA, Karen does not match my mother, so I can tell positively that she is related through my father’s line. She and I triangulate on our common segment with three other individuals who descend from Abraham Estes 1647-1720 .

Utilizing the chromosome browser, we do indeed match on chromosome 8 on a long segment, which is also our only match over 5cM at Family Tree DNA.

Based on our trees as well as the trees of our three triangulated Estes matches, Karen and I are most probably either 8th cousins, or 8th cousins once removed, assuming that is our only common line. I am 8th cousins with the other three triangulated matches on chromosome 8. Karen’s line has yet to be proven.

Imputation Matching Summary

I like the way that DNA.Land presents some of their features, but as for matching accuracy, you can view the match quality in various ways:

  1. DNA.Land did find the large match on chromosome 8. Of course, in terms of matching, that’s pretty difficult to miss at roughly 30cM, although MyHeritage managed. Imputation did split the large match into two, somehow, even though Karen and I match on that same segment as one segment at other vendors comparing the same files.
  2. Of the 39 DNA.Land total matches, other than the chromosome 8 match, two other matches are partial matches, according to GedMatch. Both are under 7cM.
  3. Of DNA.Land’s total 39 matches, 35 are entirely wrong, in addition to the two that are split, including two inaccurate imputed matches at over 5cM.
  4. At DNA.Land, I’m not so concerned about discerning between “real” and “false” small segment matches, as compared to both FTDNA and GedMatch, as I am about incorrectly imputed segments and matches. Whether small matches in general are false positives or legitimate can be debated, each smaller segment match based on its own merits. Truthfully, with larger segments to deal with, I tend to ignore smaller segments anyway, at least initially. However, imputation adds another layer of uncertainty on top of actual matching, especially, it appears, with smaller matches. Imputing entire segments of incorrect DNA concerns me.
  5. Having said that, I find it very concerning that MyHeritage who also utilizes imputation missed a significant match of over 30cM. I don’t know of a match of this size that has ever been proven to be a false match (through parental phasing), and in this case, we know which ancestor this segment descends from through independent verification utilizing multiple other matches. MyHeritage should have found that match, regardless of imputation, because that match is from portions of the two files that were both tested, not imputed.

Summary

To date, I’m not impressed with imputation matching relative to genetic genealogy at either DNA.Land or MyHeritage.

In one case, that of DNA.Land, imputation shows matches for segments that are not shown as matches at either Family Tree DNA or GedMatch who are comparing the same two testers’ files, but without imputation. Since DNA.Land did find the larger segment, and many of their smaller segments are simply wrong, I would suggest that perhaps they should only show larger segments. Of course, anyone who finds DNA.Land is probably an experienced genetic genealogist and probably already has files at both GedMatch and Family Tree DNA, so hopefully savvy enough to realize there are issues with DNA.Land’s matching.

In the second imputation case, that of MyHeritage, the match with Karen is missed entirely, although that may not be a function of imputation. It’s hard to determine.  MyHeritage is also comparing the same two files uploaded by Karen and I to the other vendors who found that match, both vendors who do and don’t utilize imputation.

Regardless of imputing additional locations, MyHeritage should have found the matching segment on chromosome 8 because that region does NOT need to be imputed. Their failure to do so may be a function of their matching routine and not of imputation itself. At this point, it’s impossible to discern the cause. We only know, based on matching at other vendors, that the non-match at MyHeritage is inaccurate.

Here’s what DNA.Land has to say about the imputed VCF file, which holds all of your imputed values, when you download the file. They pull no punches about imputation.

“Noisey and probabilistic.” Yes, I’d say they are right, and problematic as well, at least for genetic genealogists.

Extrapolating this even further, I find it more than a little frightening that my imputed data at DNA.Land will be utilized for medical research.

Quoting now from Promethease, a medical reference site that allows the consumer to upload their raw data files, providing consumers with a list of SNPs having either positive or negative research in academic literature:

DNA.land will take a person’s data as produced by such companies and impute additional variants based on population frequency statistics. To put this in concrete terms, a person uploading a typical 23andMe file of ~700,000 variants to DNA.land will get back an (imputed) file of ~39 million variants, all predicted to be present in the person. Promethease reports from such imputed files typically contain about 50% more information (i.e. 50% more genotypes) than the corresponding reports from raw (non-imputed) data.

Translated, this means that your imputed data provides twice as much “genetic information” as your actual tested data. The question remains, of course, how much of this imputed data is accurate.

That will be the topic of the third imputation article. Stay tuned.

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 850 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA.

Concepts – Why Genetic Genealogy and Triangulation?

One of the questions often asked is why triangulation in genetic genealogy is so important.

Before I answer that, let’s take a look at why genealogists use autosomal DNA for genetic genealogy in the first place.

Why Genetic Genealogy?

Aside from ethnicity testing, genetic genealogists utilize autosomal DNA testing to further their genealogical research or confirm the research they have already performed. Genetic genealogy cannot stand alone on DNA evidence, but must include traditional genealogical research. DNA is simply another tool in the genealogist’s tool box – albeit a critical one.

There are three established primary vendors in this field, Family Tree DNA, Ancestry and 23andMe, plus a few newcomers. All three vendors offer autosomal DNA tests utilized by genetic genealogists in various ways. If you want to learn more about the differences between these vendors’ offerings, please read the article, “Which DNA Test is Best?”

In order to achieve genealogical goals, there are four criteria that need to be met. All are required to achieve triangulation which is the only way to confirm a genealogical ancestral match to a specific ancestor.

  • DNA Matching – The tester’s DNA matches that of other testers at the company where they tested, or at GedMatch. All three vendors provide matching information, along with GedMatch, a third-party tool utilized by genetic genealogists.

Family Tree DNA assigns matches to either maternal, paternal or both sides of the tester’s tree based on connecting the DNA of relatives, up through third cousins, who have tested to their appropriate location in the tester’s tree.

In the example above, you can see the individuals linked to my tree include my mother with her Family Finder test, plus her two first cousins, Donald and Cheryl Ferverda who have also tested.

  • Ancestor Matching – The testers identify a common ancestor or ancestral line based on their previous work, aka, genealogy and family trees.  In the example above, the common ancestors are the parents of the brothers, John and Roscoe Ferverda.  Identifying a common ancestor is an easy task with known close relatives, but becomes more challenging the more distant the common ancestor.

Of the vendors, 23andMe does not have a Gedcom upload or ability for testers to display trees and for the vendor to utilize to match surnames, although they can link to external trees. Ancestry provides “tree matching,” shown above, and Ancestry and Family Tree DNA, shown below, both provide surname matching.

  • Segment Matching – Utilizing chromosome browsers or downloaded match lists including segment information to identify actual DNA segments that match other testers.

Family Tree DNA’s chromosome browser is shown above.

Each individual tester will have two groups of matches on the same segment, one group from their mother’s side of the tree and one from their father’s side of the tree. Each tester carries DNA inherited from both parents on two different “sides” of each chromosome. You can read more about that in the article, One Chromosome, Two Sides, No Zipper – ICW and the Matrix.

Of the three vendors, Ancestry does not provide segment matching, a chromosome browser, nor any segment information, so testers cannot perform this step at Ancestry.

23andMe does provide this information, but each tester must individually “opt in” to data sharing, and many do not. If testers do not globally “opt in” they must authorize sharing individually for every match, so testers will not be able to see the chromosome segment information for many 23andMe matches. In my case, only about 60% are sharing.

Family Tree DNA provides a chromosome browser, the file download capability with segment information, and everyone authorizes sharing of information when they initially test – so there is no opt-in confusion.

Ancestry and 23andMe raw DNA data files can be transferred to both Family Tree DNA and GedMatch where chromosome browsers and other tools are available. For more information about transferring files, please read Autosomal DNA Transfers – Which Companies Accept Which Tests?

Triangulation – The process used to combine all three of the above steps in order to assign specific segments of the tester’s DNA to specific ancestors, by virtue of:

  • The tester’s DNA matching the DNA of other testers on a specific segment.
  • Identifying that the individuals who match the tester on that segment also match each other. This is part of the methodology employed to group the testers matches into two groups, the maternal and paternal groupings.
  • Identifying which ancestor contributed that segment to all of the people who match the tester and each other on that same segment.

In order for a group of matches to triangulate, they must match each other on the same segment of DNA and they must all share a common ancestor.

Triangulation is part DNA, meaning the inheritance, part technology, meaning the ability to show that all testers in a match group all match each other and on the same segment, and part genealogy, meaning the ability to identify the common ancestor of the group of individuals.

The following chart shows a portion of my match download file on chromosome 5 from Family Tree DNA.

As you can see, these matches all cover significant portions of the same segment on chromosome 5.

Without further investigation, we know that I match all of these people, but we don’t know what that information is telling us about my genealogy. We don’t know who matches each other, and we can’t tell which people are from my mother’s and father’s sides. We also don’t know who the common ancestor is or common ancestors are.

However, looking at the trees of the individuals involved, or contacting them for further information, and/or recognizing known cousins from a specific line all combine to contribute to the identification of our common ancestors.

Below is the same spreadsheet, now greatly enriched after my genealogy work is applied to the DNA matches in two additional columns.

I’ve colored my triangulated groups pink for my mother’s side and blue for my father’s side.

In this case, I also have access to my cousins’ DNA match results, so I can view their matches as well, looking for common matches on my match list.

One of the reasons genealogists always suggest testing older family members and as many cousins as possible is because triangulation becomes much easier with known cousins from particular lines to point the way to the common ancestor. In this case, one cousin, Joe, is from my mother’s side and one, Lou, is from my father’s side.

By looking at my matches’ genealogy, I’ve now been able to assign this particular segment on chromosome 5, on my mother’s side to ancestors Johann Michael Miller and his wife Susanna Berchtol. The same segment, on my father’s side is inherited from Charles Dodson and his wife, Ann, last name unknown.

In order to achieve triangulation, the common ancestor must be determined for the match group. Once triangulation is achieved, descent from the common ancestor is confirmed.

Unless you are dealing with very close known relatives, like the Ferverda first cousins, there is no other way to prove a genetic connection to a specific ancestor.

At Family Tree DNA, I can utilize the chromosome browser and the ICW and matrix tools to determine which of this group matches each other. At 23andMe, I can utilize their shared DNA matching tool. This information can then be recorded in my DNA spreadsheet, as illustrated above.

Triangulation cannot be achieved at Ancestry or utilizing their tools. Ancestry’s DNA Circles provide extended match groups, indicating who matches whom for a particular ancestor shown in a tester’s tree, but do not indicate that the matches are on the same segment. Circles do not guarantee that Circle members are matching on DNA from that ancestor, only that they do match and show a common ancestor in their tree.  The third triangulation step of segment matching is missing.  Ancestry does not provide segment information in any format, so Ancestry customers who want to triangulate can either retest elsewhere or download their data files to either Family Tree DNA or GedMatch for free.

Summary

Before the advent of genetic genealogy, genealogists had to take it on faith that the paper trail was accurate, and that there was no misattributed parentage – either through formal or informal adoption or hanky-panky.  That’s not the case anymore.

Today, DNA through triangulation can prove ancestry for groups of people to a common ancestor by identifying segments that have descended from that ancestor and are found in multiple descendants today.

Of course, the next step is to break down those remaining brick walls. For example, what is the birth name of Ann, wife of Charles Dodson, whose surname is unknown? Logically, the DNA descended from a couple, meaning Charles and Ann, contains DNA from both individuals. We don’t know if that segment on chromosome 5 is from Ann, Charles, or parts from both, BUT, if we begin to see a further breakdown to another, unknown family line among the Charles and Ann segments, that might be a clue.

One day, in the future, we’ll be able to identify our unknown family lines through DNA matches and other people’s triangulation. That indeed, is the Holy Grail.

Additional Resources

If you’d like to read more specific information about autosomal DNA matching and triangulation, be sure to read the links in the article, above. The following articles may be of interest as well:

DeMystifying Autosomal DNA Matching

Autosomal DNA Testing 101 – What Now?

Autosomal DNA Matching Confidence Spectrum

Concepts – Segment Size, Legitimate and False Matches

How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical by Descent, State, Population and Chance

Nine Autosomal Tools at Family Tree DNA

If you think you might come up short, because you have only one known cousin who has tested, well, think again.

Just One Cousin

Here’s wishing you lots of triangulated matches!!!

Autosomal DNA Transfers – Which Companies Accept Which Tests?

Somehow, I missed the announcement that Family Tree DNA now accepts uploads from MyHeritage.

Other people may have missed a few announcements too, or don’t understand the options, so I’ve created a quick and easy reference that shows which testing vendors’ files can be uploaded to which other vendors.

Why Transfer?

Just so that everyone is on the same page, if you test your autosomal DNA at one vendor, Vendor A, some other vendors allow you to download your raw data file from Vendor A and transfer your results to their company, Vendor B.  The transfer to Vendor B is either free or lower cost than testing from scratch.  One site, GedMatch, is not a testing vendor, but is a contribution/subscription comparison site.

Vendor B then processes your DNA file that you imported from Vendor A, and your results are then included in the database of Vendor B, which means that you can obtain your matches to other people in Vendor B’s data base who tested there originally and others who have also transferred.  You can also avail yourself of any other tools that Vendor B provides to their customers.  Tools vary widely between companies.  For example, Family Tree DNA, GedMatch and 23andMe provide chromosome browsers, while Ancestry does not.  All 3 major vendors (Family Tree DNA, Ancestry and 23andMe) have developed unique offerings (of varying quality) to help their customers understand the messages that their unique DNA carries.

Ok, Who Loves Whom?

The vendors in the left column are the vendors performing the autosomal DNA tests. The vendor row (plus GedMatch) across the top indicates who accepts upload transfers from whom, and which file versions. Please consider the notes below the chart.

(Chart updated September 28, 2017)

Please note that on August 9, 2017, 23and Me began processing on the Illumina GSA chip which is not compatible with earlier versions.  As of late September 2017, only GedMatch accepts their upload and only in their Genesis sandbox area, not the normal production matching area.  This is due to the small overlap area with existing chips.  You can read more about the GSA chip and its ramifications here

  • Family Tree DNA accepts uploads from both other major vendors (Ancestry and 23andMe) but the versions that are compatible with the chip used by FTDNA will have more matches at Family Tree DNA. 23andMe V3, Ancestry V1 and MyHeritage results utilize the same chip and format as FTDNA. 23andMe V4 and Ancestry V2 utilize different formats utilizing only about half of the common locations. Family Tree DNA still allows free transfers and comparisons with other testers, but since there are only about half of the same DNA locations in common with the FTDNA chip, matches will be fewer. Additional functions can be unlocked for a one time $19 fee.
  • Neither Ancestry, 23andMe nor Genographic accept transfer data from any other vendors.
  • MyHeritage does accept transfers, although that option is not easy to find. I checked with a MyHeritage representative and they provided me with the following information:  “You can upload an autosomal DNA file from your profile page on MyHeritage. To access your profile page, login to your MyHeritage account, then click on your name which is displayed towards the top right corner of the screen. Click on “My profile”. On the profile page you’ll see a DNA tab, click on the tab and you’ll see a link to upload a file.”  MyHeritage has also indicated that they will be making ethnicity results available to individuals who transfer results into their system in May, 2017.
  • LivingDNA has just released an ethnicity product and does not have DNA matching capability to other testers.  Living DNA imputes DNA locations that they don’t test, but the initial download only includes the DNA locations actually tested.
  • WeGene’s website is in Chinese and they are not a significant player, but I did include them because GedMatch accepts their files. WeGene’s website indicates that they accept 23andme uploads, but I am unable to determine which version or versions. Given that their terms and conditions and privacy and security information are not in English, I would be extremely hesitant before engaging in business. I would not be comfortable in trusting on online translation for this type of document. SNPedia reports that WeGene has data quality issues.
  • GedMatch is not a testing vendor, so has no entry in the left column, but does provide tools and accepts all versions of files from each vendor that provides files, to date, with the exception of the Genographic Project.  GedMatch is free (contribution based) for many features, but does have more advanced functions available for a $10 monthly subscription. The GedMatch Genesis platform is a sandbox area for files from vendors that cannot be put into production today due to matching and compatibility issues.
  • The Genographic Project tested their participants at the Family Tree DNA lab until November 2016, when they moved to the Helix platform, which performs an exome test using a different chip.
  • The Ancestry V2 chip began processing in May 2016.
  • The 23andMe V3 chip began processing in December 2010. The 23andMe V4 chip began processing in November 2013. Their V5 chip August 9, 2017.

Incompatible Files

Please be aware that vendors that accept different versions of other vendors files can only work with the tested locations that are in the files generated by the testing vendors unless they use a technique called imputation.

For example, Family Tree DNA tests about 700,000 locations which are on the same chip as MyHeritage, 23andMe V3 and Ancestry V1. In the later 23andMe V4 test, the earlier 23andMe V2 and the Ancestry V2 tests, only a portion of the same locations are tested.  The 23andMe V4 and Ancestry V2 chips only test about half of the file locations of the vendors who utilize the Illumina OmniExpress chip, but not the same locations as each other since both the Ancestry V2 and 23andMe V4 chips are custom. 23andMe and Ancestry both changed their chips from the OmniExpress version and replaced genealogically relevant locations with medically relevant locations, creating a custom chip.

Update:  In August 2017, 23andMe introduced their V5 chip which has only about 20% overlap with previous chips.

I know this is confusing, so I’ve created the following chart for chip and test compatibility comparison.

(Chart updated Sept. 28, 2017)

You can easily see why the FTDNA, Ancestry V1, 23andMe V3 and MyHeritage tests are compatible with each other.  They all tested utilizing the same chip.  However, each vendor then applies their own unique matching and ethnicity algorithms to customer results, so your results will vary with each vendor, even when comparing ethnicity predictions or matching the same two individuals to each other.

Apples to Apples to Imputation

It’s difficult for vendors to compare apples to apples with non-compatible files.

I wrote about imputation in the article about MyHeritage, here and also more generally, here. In a nutshell, imputation is a technique used to infer the DNA for locations a vendor doesn’t test (or doesn’t receive in a transfer file from another vendor) based on the location’s neighboring DNA and DNA that is “normally” passed together as a packet.

However, the imputed regions of DNA are not your DNA, and therefore don’t carry your mutations, if any.

I created the following diagram when writing the MyHeritage article to explain the concept of imputation when comparing multiple vendors’ files showing locations tested, overlap and imputed regions. You can click to enlarge the graphic.

Family Tree DNA has chosen not to utilize imputation for transfer files and only compares the actual DNA locations tested and uploaded in vendor files, while MyHeritage has chosen to impute locations for incompatible files. Family Tree DNA produces fewer, but accurate matches for incompatible transfer files.  MyHeritage continues to have matching issues.

MyHeritage may be using imputation for all transfer files to equalize the files to a maximum location count for all vendor files. This is speculation on my part, but is speculation based on the differences in matches from known compatible file versions to known matches at the original vendor and then at MyHeritage.

I compared matches to the same person at MyHeritage, GedMatch, Ancestry and Family Tree DNA. It appears that imputed matches do not consistently compare reliably. I’m not convinced imputation can ever work reliably for genetic genealogy, because we need our own DNA and mutations. Regardless, imputation is in its infancy today and due to the Illumina GSA chip replacing the OmniExpress chip, imputation will be widely used within the industry shortly for backwards compatibility.

To date, two vendors are utilizing imputation. LivingDNA is using imputation with the GSA chip for ethnicity, and MyHeritage for DNA matching.

Summary

Your best results are going to be to test on the platform that the vendor offers, because the vendor’s match and ethnicity algorithms are optimized for their own file formats and DNA locations tested.

That means that if you are transferring an Ancestry V1 file, a 23andMe V3 file or a MyHeritage file, for example, to Family Tree DNA, your matches at Family Tree DNA will be the same as if you tested on the FTDNA platform.  You do not need to retest at Family Tree DNA.

However, if you are transferring an Ancestry V2 file or 23andMe V4 file, you will receive some matches, someplace between one quarter and half as compared to a test run on the vendor’s own chip. For people who can’t be tested again, that’s certainly better than nothing, and cross-chip matching generally picks up the strongest matches because they tend to match in multiple locations. For people who can retest, testing at Family Tree DNA would garner more matches and better ethnicity results for those with 23andMe V2 and V4 tests as well as Ancestry V2 tests.

For absolutely best results, swim in all of the major DNA testing pools, test as many relatives as possible, and test on the vendor’s Native chip to obtain the most matches.  After all, without sharing and matching, there is no genetic genealogy!

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Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 850 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA.

2016 Genetic Genealogy Retrospective

In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions.  I think genetic genealogy is maturing and has perhaps begun a new chapter.  Let’s take a look.

Vendors

Family Tree DNA

Family Tree DNA leads the pack this year with their new Phased Family Matches which utilizes close relatives, up to third cousins, to assign your matches to either maternal or paternal buckets, or both if the individual is related on both sides of your tree.

Both Buckets

They are the first and remain the only vendor to offer this kind of feature.

Phased FF2

Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members.  DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture.  Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group.  This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

2016-ancient-origins

You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch.  Family Tree DNA is working on a resolution to this problem.

I tested on the new Ancestry V2 chip, and while there is a difference in how much matching DNA I share with my matches as compared to the V1 chip, it’s not as pronounced as I expected. There is no need for people who tested on the earlier chip to retest.

Unfortunately, Ancestry has remained steadfast in their refusal to implement a chromosome browser, instead focusing on sales by advertising the ethnicity “self-discovery” aspect of DNA testing.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees.  In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

ancestry-common-ancestors

23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate.  It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site.  This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription.  Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

2016-myheritage-matches

For the record, I have 28 matches today at MyHeritage.

2016-myheritage-second-match

I found that my second closest match at MyHeritage is also at Ancestry.

2016-myheritage-at-ancestry

At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5th to 8th cousin, and MyHeritage estimates it as 2nd to 4th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files.  They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison.  Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed.  No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry.  MyHeritage also owns Geni.com.  One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model.  For a comparison of the two, check out Judy Russell’s articles, here and here.  Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is.  Let’s hope that 2017 brings both clarity and improvements.

Living DNA

Living DNA is a company out of the British Isles with a new test that purports to provide you with a breakdown of your ethnicity and the locations of your ancestral lines within 21 regions in the British Isles.  Truthfully, I’m very skeptical, but open minded.

They have had my kit for several weeks now, and testing has yet to begin.  I’ll write about the results when I receive them.  So far, I don’t know of anyone who has received results.

2016-living-dna

Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

That’s a vastly different model that the current approach taken by 23andMe and Ancestry where you relinquish your rights to the sale of your DNA when you sign up to test.  I like this new approach with complete transparency, allowing the customer to decide the fate of their DNA. I wrote about the Genos test and the results, here.

Third Parties

Individuals sometimes create and introduce new tools to assist genealogists with genetic genealogy and analysis.

I have covered these extensively over the years.

GedMatch, WikiTree, DNAGedcom.com and Kitty Cooper’s tools remain my favorites.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes.  Somehow, this makes me feel closer to them.  They’re not really gone, because they still exist in me and other descendants as well.

Roberta's ancestor map2

In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

ADSA Crumley cluster

GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

2016-gedmatch-triangulation-groups

I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name.  Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half.  These phased kits allow you to see your matches that come from that parent, only.  However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.”  In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings.  While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree.  While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article,  Putting DNA Results Into Action, for how to utilize their DNA Features.

2016-wikitree-peter-roberts

Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts.  WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools.  DNAGedcom does as well.  Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure.  Websites and everything that goes along with them aren’t free.  Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity.  Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same.  Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet.  For example, DNA testing is illegal in France.  Not to mention, genetic genealogy and population genetics is still a new and emerging field.  We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc.  Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?”  They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids.  Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more.  Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

Of course, the “Help” link is always a good place to start as are these articles, DNA Testing for Genealogy 101 and Autosomal DNA Testing 101.  These two articles should be “must reads” for everyone who has DNA tested, or wants to, for that matter.  Tips and Tricks for Contact Success is another article that is immensely helpful to people just beginning to reach out.

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

The Concepts Series

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical By Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Y DNA Matching and Connecting With Your Paternal Ancestor

Concepts – Downloading Autosomal Data From Family Tree DNA

Concepts – Managing Autosomal DNA Matches – Step 1 – Assigning Parental Sides

Concepts – Genetic Distance

Concepts – Relationship Predictions

Concepts – Match Groups and Triangulation

Concepts – Sorting Spreadsheets for Autosomal DNA

Concepts – Managing Autosomal DNA Matches – Step 2 – Updating Matching Spreadsheets, Bucketed Family Finder Matches and Pileups

Concepts – Why DNA Testing the Oldest Family Members Is Critically Important

Concepts – Undocumented Adoptions Versus Untested Y Lines

My blog isn’t the only resource of course.

Kelly Wheaton provides 19 free lessons in her Beginners Guide to Genetic Genealogy.

Other blogs I highly recommend include:

Excellent books in print that should be in every genetic genealogist’s library:

And of course, the ISOGG Wiki.

Online Conference Resources

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up.  Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource.  Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time!  A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised!  This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Genetic genealogy is and can only be a collaborative team sport.

Here’s wishing you many new cousins and discoveries in 2017.

Happy New Year!!!

Beware The Sale of Your DNA – Just Because You Can Upload Doesn’t Mean You Should

You know something is coming of age when you begin to see knockoffs, opportunists – or ads on late night TV. As soon as someone figures out they can make money from something, rest assured, they will.

In the past few weeks, we’re beginning to see additional “opportunities” for places to upload your DNA files. Each of them has something to “give” you in return.  You can view this as genuine, or you can view this as bait – or maybe some of each.

So far, each of them also seems to have an agenda that is NOT serving us or our DNA – but serving only or primarily them. I’m not saying this is good or bad – that depends on your perspective – but I am saying that we need to be quite aware of a variety of factors before we participate or upload our autosomal DNA results.

Some sites are more straightforward than others.

I have already covered the fact that both 23andMe and Ancestry sell your DNA to whomever for whatever they see fit.

Truthfully, I always knew that 23andMe was focused on health, but I mistakenly presumed it was on the study of diseases like Parkinson’s. My mother was diagnosed with Parkinson’s, so I had a personal stake in that game.  When their very first patent was for “designer babies,” I felt shell-shocked, stupid, naïve, duped and taken advantage of. I had willingly opted-in and contributed my information with the idea that I was contributing to Parkinson’s research, while in reality, my DNA may have been used in the designer baby patent research.  I have no way of knowing and I had no idea that’s the type of research they were doing.

Parkinson’s yes, designer babies no.  It’s a personal decision, but once your DNA is being utilized or sold, it can be used for anything and you have no control whatsoever.  While I was perfectly willing to participate in surveys and have my DNA utilized for a cure for diseases, in particular Parkinson’s, I was not and am not willing for my DNA to be utilized for things like designer babies so the wealthy can select blue eyed, blonde haired children carrying the genes most likely to allow them to become athletes or cheerleaders.

And once the DNA cat is out of the bag, so to speak, there is no putting it back in. In some cases, you can opt out of identified data, but you can’t opt out of what has already been used, and in many cases, you can’t opt out of having your anonymized data sold.

So, let me give you an example of just how much protection anonymizing your data will give you.

Anonymized Data

Let’s say that someone in one of those unknown firms wants to know who I am. All they have to do is drop my results into GedMatch and my name is right there, along with my e-mail.

Have a fake name at Gedmatch? Well, think for a minute of the adoption search groups and how they identify people, sometimes very quickly and easily by their matches.  Everyday.

Not to mention, my children (and my parents, were they living) are very clearly identifiable utilizing my DNA. So while my DNA is mine, and legally belongs to me, it’s not entirely ONLY mine.

The promise of anonymized data by stripping out your identifying information has become somewhat of a hollow promise today. In a recent example, a cholesterol study volunteer recognized “herself” in a published paper, but was not notified of the results. In an earlier paper, several Y DNA volunteers were identified as well. Ironically, Dr. Erlich, now having formed DNA.Land and soliciting DNA uploads was involved with this unmasking.

Knowing what I know today, I would NEVER have tested at 23andMe and I would have to think very long and hard about Ancestry. The hook that Ancestry has, of course, is all of those DNA plus matching trees.  Is having my anonymized DNA sold worth that?  I don’t really know.  For me, it’s too late for an Ancestry decision, because I’ve already tested there and you cannot opt out of having your anonymized data sold.

I already had an Ancestry subscription, but some testers don’t realize they have to have at least a minimum level subscription to receive all of the benefits of testing at Ancestry. That could certainly be a rude awakening – and unexpected when they purchased the test.  The $49 DNA base subscription is not available on Ancestry’s website either – you have to know about it and call support to purchase that level.  I’m sure most people simply purchase the normal subscription or do without.

One thing is for sure, our DNA is worth a lot of money to both research and Big Pharm, and apparently worth a lot of effort as well, given how many people are attempting to capture our DNA for sale.

In the past few weeks, there have been several new sites that have come online relative to autosomal DNA uploading and testing.

But before we talk about those, I’d like to take a moment for education.

The Sanger Survey

Sanger survey

I’d like to suggest that you take a few minutes to view the videos associated with the Sanger Institute DNA survey here. I think the videos do a good job of explaining at least some of the issues facing people about the usage of their DNA.  Of course, you have to take their survey to see the videos at each step – but it’s good food for thought and they do allow you to make comments.

So, please, take a few minutes for this survey before proceeding.

Genes and US

One of the first “sidebar” companies to appear in September 2014 was at the site   http://www.genesand.us/ which is now nonfunctional.

I took screen shots at that time, since I was going to write an article about what seemed quite interesting.

Genesandus

It was a free service that offered to “find the best genes that you can give to your child.” You had to test at 23andMe, then upload both you and your partner’s raw DNA files and they would provide you with results.

I did just that, and the screen shot below shows the partial results. There were several pages.

Genesandus1

At the end of this section was a question asking if I wanted to “speak to a doctor about any of these benefits.” I didn’t, but I did want to know if gene selection was actual possible and being implemented.  I found the site’s contact information.  I sent this e-mail, which was never answered.

genesandus2

So let me ask you…where is my and my husband’s DNA today? I uploaded it.  Who has it?  Was this just a ploy to obtain our DNA files?  And for what purpose?  Who were these people anyway?  They are gone without a trace today.

DNA.Land

More recently, in the fall of 2015, DNA.Land came upon the scene.

As of today, 22,000+ people have uploaded their autosomal DNA files.

dna.land

What does DNA.Land offer the genealogist?

A different organization’s view of your ethnicity as well as relative matching to others who upload.

The quality and reliability of these enticements offered by companies in exchange for our DNA files may vary widely. For example, when DNA.Land launched, their matching routine didn’t find immediate family members.  No product should ever be launched in an alpha state, which calls into question the quality of the rest of their products and research.  That matching problem has reportedly been fixed.

The second enticement they offer is an ethnicity tool.

I can’t show you my example, because I have not uploaded my DNA to DNA.Land.   However, a genetic genealogy colleague conducted an interesting experiment.

TL Dixon uploaded four DNA files in late April 2016. He tested twice at 23andMe, both tests being the v3 version, and twice at Ancestry, in 2012 and 2014, and uploaded all 4 files to DNA.Land to see what the results would be, comparatively.

TL 23andMe test 1

23andMe v3 test 1

TL 23andme test 2

23andMe v3 test 2

TL Ancestry test 1 2014

Ancestry test from 2014

TL Ancestry test 2 2012

Ancestry test from 2012

We all know that ethnicity testing as a whole is not terribly reliable, but is the most reliable on the continent level, meaning Africa vs Europe vs Asia vs Native American. Given that these raw data files are from the same testing companies, on the same chip platform, for the same person, the Ancestry 2012 and 2014 ethnicity results from DNA.Land are quite different from each other relative to African vs Eurasian DNA, and also from the 23andMe results – even at the continent level.  Said another way, both 23andme results and the Ancestry 2014 results are very similar, with the Ancestry 2012 test, shown last, being the outlier.

Thanks to TL Dixon for both his multiple testing and sharing his results. According to TL’s known family history, the two 23andMe and the Ancestry 2014 kits are closest to accurate.  Just as an aside, TL, surprised by the differing results, utilized David Pike’s utilities to compare the two Ancestry files to see if one had a problem, and they were both very similar, so the difference does not appear to be in the Ancestry kits themselves – so the difference has to be at DNA.Land.

So, what I’m saying is that DNA.Land’s enticement of a different company’s view of ethnicity, even after several months, and even at the continent level, still needs work. This along with the original matching issue calls into question the quality of some of the enticements that are being used to attract DNA donors.  We should consider this not only at this site, but at others that provide enticement or “free” services or goodies as well.  Uploaders beware!

While the non-profit status of DNA.Land along with their verbiage leads people to believe that their work is entirely charitable, it is not, as reflected in this sentence from their consent information.

I understand that the research in this study may lead to new products, research tools, or inventions that have financial value. By accepting the terms of this consent, I understand that I will not be able to share in the profits from future commercialization of products developed from this study.

At least they are transparent about this, assuming you actually read all of the information provided on the site – which you should do with every site.

My Heritage Adds DNA Matching

This past week, My Heritage, a company headquartered in Israel, announced that it has added autosomal DNA matching. Some people think this is great, and others not so much.

MyHeritage

My Heritage, like Ancestry, is a subscription site. I happen to already be a member, so I was initially pretty excited about this, especially when I saw this in their blog.

Your DNA data will be kept private and secure on MyHeritage.

Our service will then match you to other people who share DNA with you: your relatives through a common ancestor. You will be able to review your matches’ family trees (excluding living people), and filter your matches by common surnames or geographies to focus on more relevant matches.

And also:

Who has access to the DNA data?

Only you do. Nobody else can see it, and nobody can even know that it was uploaded. Only the uploader can see the data, and you can delete it at any time. Users who are matched with your DNA will not have access to your DNA or your email address, but will be able to get in touch with you via MyHeritage.

I was thinking this might be a great opportunity, perhaps similar to the Ancestry trees, although they don’t say anything about tree matching.

However, their Terms of Service are not available to view unless you pretend to start an upload of your DNA (thanks for this tip Ann Turner) and then the “Terms of Service” and “Consent Agreement” links become available to view. They should be available for everyone BEFORE you start your upload.

On the MyHeritage main site, you’ll see DNA matching at the top. I’m a member, so, if you’re not a member, your “main site” may look different.

MyHeritage1

Click on “learn more” on the DNA Matching tab.

MyHeritage2

Step two shows you two boxes saying you have read the DNA Terms of Use and Consent Agreement. Don’t just click through these – read them.  Not just at this vendor, at all vendors.

In the required DNA Terms of Use we find this in the 5th paragraph:

By submitting DNA Results to the Website, you grant MyHeritage a perpetual, royalty-free, world-wide, transferable license to use your DNA Results, and any DNA Results you submit for any person from whom you obtained legal authorization as described in this Agreement, and to use, host, sublicense and distribute the resulting analysis to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered.

And this in item 7:

c. We may transfer, lease, rent, sell, share and/or or otherwise distribute de-identified information to third parties for any purpose, including without limitation, internal business purposes. Whenever we transfer, lease, rent, sell, share and/or or otherwise distribute your information to third parties, this information will be aggregated and personal identifiers (such as names, birth dates, etc.) will be removed.

In the optional Informed Consent agreement, we find this:

The Project collects, preserves and analyzes genealogical lineage, historical records, surveys, genetic information, and other records (collectively, “Research Information“) provided by users in order to conduct research studies to better understand, among other things, human evolution and migration, population genetics, regional health issues, ethnographic diversity and boundaries, genealogy and the history of the human species. Researchers hope that the Project will be an invaluable tool for a wide range of scholars and researchers interested in genealogy, anthropology, evolution, languages, cultures, medicine, and other topics and that the Project may benefit future generations. Discoveries made as a result of the Project may be used in the study of genealogy, anthropology, population genetics, population health issues, cultures, trends (for example, to identify health risks or spread of certain diseases), and other related topics. If we or a third party wants to conduct a study (1) on topics unrelated to the Project, or (2) using Research Information beyond what is described in this Informed Consent, we will re-contact you to seek your specific approval. In addition, we may contact you to ask you to complete a questionnaire or to ask you if you are willing to be interviewed about the Project or other matters.

  1. What are the costs and will I receive compensation? MyHeritage will not charge participants any fees in order to be part of the Project. There will be no financial compensation paid to Project participants. The data you share with us for the Project may benefit researchers and others in the future. If any commercial product is developed as a result of the Project or its outcomes, there will be no financial benefit to you.

You can’t see the terms of use or consent agreement unless you are in the process of uploading your DNA and in addition, it appears that your DNA data is automatically available in anonymized fashion to third parties. The terms of service and informed consent data above does not seem to correlate with the marketing information which states that “nobody else” can see your data.

The other thing that’s NOT obvious, is that you don’t HAVE to click the box on the Consent Agreement, but you do HAVE to click the box on the DNA Terms of Use.

If you are not alright with the entirety of the DNA Terms of Use, which is required, do not upload your DNA file to My Heritage.  If you are not alright with the Consent Agreement, don’t click the box.  Judy Russel wrote an detailed article about the terms here.

Uploading your DNA to MyHeritage is free today, but may be a pay service later. It is unclear whether a subscription is required today, or will be in the future.  However, at one time one could upload a family tree of up to 250 people to MyHeritage for free through 23andMe.  Larger files were accepted, but were only free for a certain time period and now the person whose tree was larger than 250 people and who did not subscribe is locked out of their account.  They can’t delete their larger-than-250 person tree unless they purchase a subscription.  It’s unclear what the future holds for DNA uploads, trees and subscriptions as well.

I have not uploaded my DNA to MyHeritage either, based on 7c. It would appear that even if you don’t give consent for additional “research information” to be collected and provided, they can still sell your anonymized DNA.

WeGene

WeGene

Very recently, a new company, WeGene at http://www.wegene.com has begun DNA testing focused on the Chinese marketplace.

Their website it in Chinese, but Google translates it, at least nominally, as does Chrome.

WeGene1

WeGene2

It does not appear that WeGene does matching between their customers, or if they do, I’ve missed it in the translations.

You can, however, upload at least 23andMe files to WeGene. I can’t tell about Family Tree DNA and Ancestry files.  Unless you have direct and fairly recent Chinese ancestry, I don’t know what the benefit would be.

Their privacy and security, such as it is, is at this link, although obviously autotranslated. Some people seem to have found other verbiage as well.  Navigating their site, written in Chinese, is very difficult and the accuracy of the autotranslation is questionable, at best.

Their autosomal DNA file is obviously available for download, because GedMatch now accepts these files.

I am certainly not uploading my DNA to WeGene, for numerous reasons.

Vendor Summary

This vendor summary was more difficult to put together than I thought it would be – in part because I am not a new user at either Ancestry or 23andMe and obviously can’t see what a new user would see on any of my accounts. Furthermore, Ancestry in particular has several documents that refer back and forth to each other, and let’s just say they are written more for the legal mind than the typical consumer.

vendor summary

* – Both 23andMe and Ancestry appear to utilize all clients DNA for anonymized distribution, but not for identified distribution without an individual opt-in.

*1 – According to the 23andMe Privacy Policy, although you can opt in to the higher level of research testing where your identity is not removed, you cannot opt out of the anonymized level of DNA sharing/sale. Please review current 23andMe documentation before making a decision.

*2 – Can Opt in or Opt out.

*3 – Can opt out of non-anonymized sales, but not anonymized sales. Please verify utilizing the current Ancestry documents before making a decision.

*4 – DNA.land indicates that you can withdraw consent, but does not say anything about deleting your DNA file.

*5 – DNA.Land states in their consent agreement that they will not provide identified DNA information without first contacting you.

*6 – At 23andMe, deleting DNA from data base closes account.

*7 – Automatically opted in for anonymized sales/sharing, but must opt in for identified DNA sharing.

*8 – 23andMe has been and continues to experience significant difficulties and at this point are not considered a viable genetic genealogy option by many, or stated another way, they would be the last choice of the main three testing companies.

*9 – All legal action must be brought in Tel Aviv, Israel, individually, and not as a class action suit, according to item 9 in the DNA Terms of Use document.

*10 – Website in Chinese, information through an automated English translator, so the information provided here is necessarily incomplete and may not be entirely accurate.

Please note that any or all of these factors are subject to change over time and the vendors’ documents should be consulting and read thoroughly at the time any decision is being made.

Please note that at some vendors there are many different documents that cross-reference each other. They are confusing and should all be read before any decision is made.

And of course, some vendors’ websites aren’t even in English.

Points to Consider

While these companies are the ones that have come to the forefront in the past few months, there will assuredly be more as this industry develops. Here are a list of things for you to think about and points to consider that may help you make your decision about whether you want to either test or upload your autosomal DNA with any particular company.  After all, your autosomal DNA file does contain that obviously much-sought-after medical information.

First, always read every document on a vendor site that says anything like “Terms of Use,” “Security and Privacy” or “Terms of Service” or “Informed Consent.” Many times the fine print is spread throughout several documents that reference each other.  If their policy does not say specifically, do NOT assume.

Also be aware that the verbiage of most companies says they can change their rules of engagement at any time without notification.

Here are the questions you may want to consider as you read these documents.

  • Does the company or organization sell or share your data?
  • Is the data that is sold or shared anonymized or nonanonymized, understanding that really no one is truly anonymous anymore?
  • Who do they sell your data to?
  • For what purpose?
  • Do you have the opportunity to authorize your DNA’s involvement per study?
  • If you do not live in the same country as the company with whom you are doing business, what recourse do you have to enforce any agreement?
  • How do you feel about your DNA being in the hands of either organizations or companies you don’t know for purposes you don’t know?
  • Are you asked up front if you want to participate?
  • Can you opt out of your DNA being shared or sold entirely from the beginning?
  • Can you opt out of your DNA being shared or sold entirely at any time if you have initially opted in?
  • Do you receive the opportunity to opt in, or are you automatically opted in?
  • If you are automatically opted in, do you get the opportunity, right then, to opt out, or only if you happen to discover the situation? And if you can opt out immediately, are you only able to opt out of non-anonymized data or can you opt out entirely?
  • Is the company up front and transparent about what they are doing with your DNA or do you have to dig to unearth the truth?
  • If you already tested, and gave up rights, were you aware that you did so, and do you understand if or how you can rescind that inadvertent authorization?
  • Do you have to dig for the terms of service and are they as represented in the marketing literature?
  • Do you feel like you are giving truly informed consent and understand what can and will happened to your DNA, and what your options are if you change your mind, and how to exercise those options? Are you comfortable with those options and the approach of the company towards DNA sale as a whole? Were they forthright?
  • For companies like MyHeritage and Ancestry, are their other unknown “gotchas” like a subscription being required in addition to testing or uploading to obtain the full benefits of the test or upload?
  • What happens to your DNA if the company no longer exists or goes out of business? For two examples, look at the Sorenson and Ancestry Y and mtDNA DNA results. This is certainly not what any consumer or tester expected. Not to mention, I’m left wondering where my DNA submitted to genesandus is today.
  • Who owns the company?  What are their names?  Where can you find them?  What is the address of the company?  What does google have to say about the owners or management?  Linked-In?  Facebook?  If there is absolutely no history, that’s probably as damning as a bad history.  No one can exist today in a professional capacity and have no history.  Just saying.
  • Is the company acting in any way that would cause you not to trust them, their motives or agenda?  As my mother used to say, the best predictor of future behavior is past behavior.

Near and Dear to My Heart

I have family members who work in the medical field in various capacities. I also have family members who have or have had genetically heritable conditions and like everyone else, I would love to see those diseases cured.  My reticence to donate my DNA to whomever for whatever is not a result of being heartless.  It’s a function of wanting to be in control of who profits with/from my DNA and that of my family.

Let me share a personal story with you.

My brother died of cancer in 2012. He went for chemo treatments every two weeks, and before he could have his chemo treatment, he had to have bloodwork to assure that his system was able to handle the next dose of chemo.

If his white cell count was below a certain threshold, a shot of a drug called Neulasta was available to him to stimulate his body to increase the white blood cells. The shots were $8000 a piece.  And no, that is not a typo.  $8000!  His insurance did not cover the shots, because as far as they were concerned, he could just wait until his white cell numbers increased of their own accord and have the chemo then.  Of course, delaying the chemo decreased his chances of survival.

Over the course of his chemo, he had to have three of these $8000 shots. Fortunately, he did have the money to pay, although he did have to reschedule his appointment because he was required to bring a cashier’s check with the full payment in advance before the clinic would administer the shot.  After that, he simply carried an $8000 cashier’s check to each appointment, just in case.

I do not for one minute believe that those shots COST $8000 to manufacture, but I do believe that the pharmaceutical industry could, would and does CHARGE $8000 to desperate patients in order to continue the chemo that is their only hope of life. For those whose insurance pays, it’s entirely irrelevant. For those whose insurance does not pay, it’s a matter of life and death.  And yes, I’m equally as angry with the insurance company, but they aren’t the ones asking for me to do donate my DNA.

So, as for my DNA, no Big Pharm company will ever get their hands on it if there is ANYTHING I can do about it – although it’s probably too late now since I have tested with both 23andMe and Ancestry, who do not allow you to opt out entirely. I wish I had known before I tested.  At least I would have been giving informed consent, which was not the case.

Consequently, I want to know who is doing what with my DNA, so that I have the option of participating or not – and I want to know up front – and I don’t want it hidden in fine print with the company hoping I’ll just “click through” and never read the documentation. I don’t want it to be intentionally or unintentionally confusing, and I want unquestionable full disclosure – ahead of time.  Is that too much to ask?

My brother had the money for the shots, and he died anyway, but can you imagine being the family of someone who did not have $24,000?

And if you think for one minute that Big Pharm won’t do that, consider Turing Pharmaceuticals CEO Martin Shkreli, dubbed “the most hated man in America” in September 2015 for gouging patients dependent on a drug used for HIV and cancer treatment by raising the price from $13.50 per pill to $750 for the same pill, a 5,556% increase – because he could.

Medical research to cure disease I’m supportive of in terms of DNA donation, but not designer babies and not Big Pharm – and today there seems to be no way to separate the bad from the good or to determine who our DNA is being sold to for what purpose. Worse yet, some medical research is funded by Big Pharm, so it’s hard to determine which medical research is independent and which is not.

The companies selling our DNA and Big Pharm are the only people who stand to benefit financially from that arrangement – and they stand to benefit substantially from our contributions by encouraging us to “help science.” We’ll never know if a study our donated DNA was used for produced a new drug – and if it’s one we can’t afford, you can bet the pharmaceutical industry and manufacturers care not one whit that we were one of the people who donated our DNA so they could develop the drug we can’t afford.  If any industry should not be soliciting free DNA donations for research, Big Pharm is that industry with their jaw-dropping profits.

So, How Much is Our DNA Worth Anyway?

I don’t know, directly, but we can get some idea from the deal that 23andMe struck with pharmaceutical company Genentech, the US unit of Swiss drug company, Roche, in January 2015, as reported by Forbes.

Quoting now, directly from the Forbes article:

According to sources close to the deal, 23andMe is receiving an upfront payment from Genentech of $10 million, with further milestones of as much as $50 million. The deal is the first of ten 23andMe says it has signed with large pharmaceutical and biotech companies.

Such deals, which make use of the database created by customers who have bought 23andMe’s DNA test kits and donated their genetic and health data for research, could be a far more significant opportunity than 23andMe’s primary business of selling the DNA kits to consumers. Since it was founded in 2006, 23andMe has collected data from 800,000 customers and it sells its tests for $99 each. That means this single deal with one large drug company could generate almost as much revenue as doubling 23andMe’s customer base.

The article further says that the drug company was particularly interested in the 12,000 Parkinson’s patients and 1,300 of their parents and siblings who had provided family information. Ten million divided by 13,300 means Genentech were willing to pay $750 for each person’s DNA, out the door.  So the tester paid $99 or upwards, depending on when they tested – $1000 before September 2008 when the test dropped to $399, to 23andMe and then 23andMe made another $750 per kit from the tester’s donated DNA results.

And that’s before the additional $50 million and the other deals 23andMe and the other DNA-sellers have struck with Big Pharm. So yes indeed, our DNA is worth a lot.

It’s no wonder so many people are trying to trying to find a way to entice us to donate our results so they can sell them. In fact, it’s a wonder, and a testament to their integrity, that there is ANY company with access to our DNA results that isn’t selling them.  In fact, there are only two companies, plus the Genographic Project.

Who Doesn’t Share or Sell Your Autosomal DNA?

Of the major companies, organizations and sites, the only three, as best I can tell, that do not share or sell your autosomal DNA (or reserve the right to do so) and specifically state that they do not are National Geographic’s Genographic Project , Family Tree DNA and GedMatch.

Of those three, Family Tree DNA, a subsidiary of Gene by Gene is the only testing company and says the following:

Gene by Gene collects, processes, stores and shares your Personal Information in a responsible, transparent and secure environment that fosters our customers’ trust and confidence. To that end, Gene by Gene respects your privacy and will not sell or rent your Personal Information without your consent.

National Geographic utilizes Family Tree DNA for testing, and the worst thing I could find in their privacy policy is that they will share:

  • with other selected third parties so that they may send you promotional materials about goods and services that they offer. You have the opportunity to opt out of our sharing information about you as described below in the section entitled “Your Choices”;
  • in accordance with your consent.

Nothing problematic here.

Your Genographic DNA file is only uploadable to Family Tree DNA and Nat Geo does not accept uploaded data from other vendors.

GedMatch, which allows users to upload their raw data files from the major testing companies for comparison says the following:

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

Please refer to the entire documents from these organizations for details.

Serious genealogists have probably already uploaded to GedMatch and tested at or uploaded to Family Tree DNA as well, so people are unlikely to find new matches at new sites that aren’t already in one of these two places.

To Be Clear

I just want to make sure there is no confusion about which type of companies we’ve been referencing, and who is excluded, and why. The only companies or organizations this article applies to are those who have access to your raw data autosomal DNA file.  Those would be either the companies who test your autosomal DNA (National Geographic, Family Tree DNA, Ancestry and 23andMe in the US and WeGenes in China), or if you download your raw data file from those companies and upload it to another company, organization or location, as discussed in this article.  The companies and organizations discussed may not be the only firms or organizations to which you can upload your autosomal DNA file today, and assuredly, there will be more in the future.

The line in the sand is that autosomal DNA file. Not your Y DNA, not your mitochondrial DNA, not your match list – just that raw data file – that’s what contains your DNA information that the medical and pharmaceutical industry seeks and is willing to pay handsomely to obtain.

There are other companies and organizations that offer helpful tools for autosomal DNA analysis and tree integration, but you do NOT upload your raw data file to those sites. Those sites would include sites like www.dnagedcom.com and www.wikitree.com. I want to be sure no one confuses sites that do NOT upload or solicit the upload of your raw autosomal DNA files with those that do.  I have not discussed these sites that do not upload your autosomal DNA files because they are not relevant to this discussion.

This article does not pertain to sites that do not utilize or have access to your autosomal raw data file – only those that do.

Summary

As the number of DNA testing consumers rises, the number of potential targets for DNA sales into the medical/pharmaceutical field rises equally, as does the number of targets for scammers.

Along with that, I increasingly feel like my ancestors and the data available through my DNA about my ancestors, specifically ethnicity since everyone seems to be looking for a better answer, is being used as bait to obtain my DNA for companies with a hidden, or less than obvious, agenda – that being to obtain my DNA for subsequent sale.

I greatly appreciate the Genographic Project, Family Tree DNA and GedMatch, the organizations who either test or accept autosomal file uploads do not sell my DNA, and I hope that they are not forced into that position economically in order to survive. It’s quite obvious that there is significant money to be made from the sale of massive amounts of DNA to the medical and pharmaceutical communities.  They alone have resisted that temptation and stayed true to the cause of the study of indigenous cultures and population genetics in the case of Nat Geo, and genetic genealogy, and only genetic genealogy in the case of Family Tree DNA and GedMatch.

In other words, just because you can doesn’t mean you should.

Frankly, I believe selling our data is fundamentally wrong unless that information is abundantly clear, as in truly informed consent as defined by the Office for Human Research Protections, in advance of purchasing (or uploading) the test, and not simply a required “click through box” that says you read something. I would be much more likely to participate in anything that was straightforward rather than something that was hidden or not straightforward, like perhaps the company or organization was hoping we wouldn’t notice, or we would automatically click the box without reading further, thinking we have no other option.

The notice needs to say something on the order of, “I understand that my DNA is going to be sold, may be used for profit making ventures, and I cannot opt out if I order this DNA test,” if that is the case. That is truly informed consent – not a check box that says “I have read the Consent Document.”

Yes, the companies that sell DNA testing and our DNA results would probably receive far fewer orders, but those who would order would be truly informed and giving informed consent. Today, in the large majority of cases, I don’t believe that’s happening.

We need to be aware as consumers and make informed decisions. I’m not telling you whether you should or should not utilize these various companies and sites, or whether you should or should not participate in contributing your DNA to research, or at which level, if at all. That is a personal decision we all have to make.

But I will tell you that I think you need to educate yourself and be aware of these trends and issues in the industry so you can make a truly informed decision each and every time you consider sharing your DNA. And you should know that in some cases, your DNA is being sold and there is absolutely nothing you can do about if it you utilize the services of that company.

Above all, read all of the fine print.

Let me say that again, channeling my best Judy Russell voice.

ALWAYS, READ ALL OF THE FINE PRINT!!!

ALWAYS.
READ.
ALL.
OF.
THE.
FINE.
PRINT.

Unfortunately, things are not always as they seem on the surface.

If you see a click-through box, a red neon danger light should now start flashing in your brain and refuse to allow you to click on that box until you’ve done what? Read all the fine print.

There really is no such thing as a free lunch – so be judiciously suspicious.

I will leave you with the same thought relative to testing companies and upload opportunities that I said about companies selling our data. Just because you can doesn’t mean you should.

I think early in this game we all got excited and presumed the best about the motives of companies and organizations, like I did with both 23andMe and genesandus, but now we know better – and that there may be more to the story than initially meets the eye.

And besides that, we all know that presume is the first cousin to assume…and well, we all know where this is going.  And by the way, that’s exactly how I feel about genesandus who disappeared with my and my husband’s DNA.  I wasn’t nearly suspicious or judicious enough then…but I am now.

Creating a Phased Parental Kit at GedMatch

In the article, Concepts – Parental Phasing, I explained why it’s so important to have at least one, if not both of your parents DNA tested in addition to your own DNA. Having at least one parent tested allows you to determine, at least for the matches that match both of you, which side the genetic ancestral connection is from, assuming the match is only from one side.

At GedMatch, you can utilize the kit of you and one parent to subtract out the DNA of your known parent. The results are the other half of your DNA, that of your missing parent.  Now, this technology isn’t perfect.  Let’s say for example that you have your mother, as I do, but not your father.  At one location, you and your mother both have an A and a T.  There is no way to know whether you inherited the A or the T from your mother, and which one you inherited from your father, so these situations are unresolvable.

So are areas where they are no-calls or bad reads.

In other studies that I’ve been involved with, we can obtain a significant amount of your half of the other parents’ DNA, around 40% of their entire DNA sequence. So that’s certainly better than nothing, given that you only have 50% of their DNA to begin with.

A New Series – Managing Autosomal DNA Matches

I’m going to step through how to create a second phased parent at GedMatch, because you’re going to need to do this for one of the upcoming Concepts Series – Managing Autosomal DNA Matches articles. Yes indeed, I’m introducing a new series soon – and this article is to help you prepare!

Test Your Parents and Close Family Members Now!

So here’s a big hint for the new series. If you have a parent who has not yet tested, now is the time to order that test.  You can test at Family Tree DNA or at Ancestry and then transfer your results to Family Tree DNA and GedMatch.  However, if you order from Ancestry, make sure to read this article first to understand fully the rights you are conveying to Ancestry.  Also, Ancestry is changing to a new chip, and we’re not sure how compatible their new autosomal file will be with either Family Tree DNA or GedMatch, and we won’t know until after those vendors have had some time to evaluate the new chip file results, so perhaps Family Tree DNA would be the safer bet right now for new tests, because you will need to transfer your parents results to both Family Tree DNA and GedMatch.  Yes, you will need your known relatives results in both locations, because relatives help identify match and triangulation groups.

So, order that kit today so you’ll have results and can fully participate in the new series’ exercises.  We’ll we walking through matching, phasing and triangulation vendor by vendor one step at a time to create your own matching DNA Master file.

No Parents to Test?  You’re NOT Out of Luck!

If you don’t have either parent, you’re not entirely out of luck.  You won’t be able to participant in parental phasing, BUT, you will be able to participate in other types of phasing and matching.  In order to do this, you’ll need to test as many of your relatives as possible, beginning with testing as many half or full siblings as possible.

Test any grandparents, aunts, uncles, great-aunts, great-uncles and any and all cousins that you can find and arm-twist (in the nicest way of course) too, because their matches will help you – and that goes for whether you have one, both or neither parent tested.

The only people in your family you don’t need to test are people both of whose parents have tested, or the relevant parent (to you) has tested.

For example, if your first cousin has tested, you don’t need her child too, because that child inherited half of your first cousin’s DNA, and you already have that in your first cousin’s test. However, your first cousin’s sibling is an entirely different matter, and you’ll want to test as many cousins (and their siblings) as you can find.

Creating a Parent at GedMatch

To create a phased parent, you’ll need your kit and the kit of one of your parents. If you have both parents tested, you don’t need to do this.

Sign into your GedMatch account and select the Phasing option, 6th from the top.

phased parent 1

Enter the kit number of the child, which is you, and the kit number of the parent whose DNA you do have.

phased parent 2

Click on generate.

When the utility is finished, you will receive the following message.

phased parent 3

GedMatch has created a phased maternal and paternal kit with the leading letters PM (for 23andMe kits), PT (for Family Tree DNA kits) and PA (for Ancestry kits) and the trailing letters P1 and M1. P1=Paternal and M1=Maternal.

The kit number of the child is imbedded inbetween PM and P1, so for example in PT524738P1.

These phased kits, because they are only “half kits,” can be utilized to determine which of your matches are from which side of your family.

I wrote about how to do that in the article titled, Phasing Yourself.

But let’s be very clear here, a phased kit is never as good as the real McCoy, so by all means, get that parent tested if at all possible.

Have fun and get your ducks in a row for the new series!

ducks