For the past three years I’ve written a year-in-review article. You can see just how much the landscape has changed in the 2012, 2013 and 2014 versions.
This year, I’ve added a few specific “award” categories for people or firms that I feel need to be specially recognized as outstanding in one direction or the other.
In past years, some news items, announcements and innovations turned out to be very important like the Genographic Project and GedMatch, and others, well, not so much. Who among us has tested their full genome today, for example, or even their exome? And would you do with that information if you did?
And then there are the deaths, like the Sorenson database and Ancestry’s own Y and mitochondrial data base. I still shudder to think how much we’ve lost at the corporate hands of Ancestry.
In past years, there have often been big new announcements facilitated by new technology. In many ways, the big fish have been caught in a technology sense. Those big fish are autosomal DNA and the Big Y types of tests. Both of these have created an avalanche of data and we, personally and as a community, are still trying to sort through what all of this means genealogically and how to best utilize the information. Now we need tools.
This is probably illustrated most aptly by the expansion of the Y tree.
The SNP Tsunami Growing Pains Continue
Going from 800+ SNPs in 2012 to more than 35,000 SNPs today has introduced its own set of problems. First, there are multiple trees in existence, completely or partially maintained by different organizations for different purposes. Needless to say, these trees are not in sync with each other. The criteria for adding a SNP to the tree is decided by the owner or steward of that tree, and there is no agreement as to the definition of a valid SNP or how many instances of that SNP need to be in existence to be added to the tree.
This angst has been taking place for the most part outside of the public view, but it exists just the same.
For example, 23andMe still uses the old haplogroup names like R1b which have not been used in years elsewhere. Family Tree DNA is catching up with updating their tree, working with haplogroup administrators to be sure only high quality, proven SNPs are added to branches. ISOGG maintains another tree (one branch shown above) that’s publicly available, utilizing volunteers per haplogroup and sometimes per subgroup. Other individuals and organizations maintain other trees, or branches of trees, some very accurate and some adding a new “branch” with as little as one result.
The good news is that this will shake itself out. Personally, I’m voting for the more conservative approach for public reference trees to avoid “pollution” and a lot of shifting and changing downstream when it’s discovered that the single instance of a SNP is either invalid or in a different branch location. However, you have to start with an experimental or speculative tree before you can prove that a SNP is where it belongs or needs to be moved, so each of the trees has its own purpose.
The full trees I utilize are the Family Tree DNA tree, available for customers, the ISOGG tree and Ray Banks’ tree which includes locations where the SNPs are found when the geographic location is localized. Within haplogroup projects, I tend to use a speculative tree assembled by the administrators, if one is available. The haplogroup admins generally know more about their haplogroup or branch than anyone else.
The bad news is that this situation hasn’t shaken itself out yet, and due to the magnitude of the elephant at hand, I don’t think it will anytime soon. As this shuffling and shaking occurs, we learn more about where the SNPs are found today in the world, where they aren’t found, which SNPs are “family” or “clan” SNPs and the timeframes in which they were born.
In other words, this is a learning process for all involved – albeit a slow and frustrating one. However, we are making progress and the tree becomes more robust and accurate every year.
We may be having growing pains, but growing pains aren’t necessarily a bad thing and are necessary for growth.
Thank you to the hundreds of volunteers who work on these trees, and in particular, to Alice Fairhurst who has spearheaded the ISOGG tree for the past nine years. Alice retired from that volunteer position this year and is shown below after receiving two much-deserved awards for her service at the Family Tree DNA Conference in November.
Best Innovative Use of Integrated Data
Dr. Maurice Gleeson receives an award this year for the best genealogical use of integrated types of data. He has utilized just about every tool he can find to wring as much information as possible out of Y DNA results. Not only that, but he has taken great pains to share that information with us in presentations in the US and overseas, and by creating a video, noted in the article below. Thanks so much Maurice.
Making Sense of Y Data
The advent of massive amounts of Y DNA data has been both wonderful and perplexing. We as genetic genealogists want to know as much about our family as possible, including what the combination of STR and SNP markers means to us. In other words, we don’t want two separate “test results” but a genealogical marriage of the two.
I took a look at this from the perspective of the Estes DNA project. Of course, everyone else will view those results through the lens of their own surname or haplogroup project.
Estes Big Y DNA Results
At the Family Tree DNA Conference in November, James Irvine and Maurice Gleeson both presented sessions on utilizing a combination of STR and SNP data and various tools in analyzing their individual projects.
Maurice’s presentation was titled “Combining SNPs, STRs and Genealogy to build a Surname Origins Tree.”
Maurice created a wonderful video that includes a lot of information about working with Y DNA results. I would consider this one of the very best Y DNA presentations I’ve ever seen, and thanks to Maurice, it’s available as a video here:
You can view more of Maurice’s work at:
James Irvine’s presentation was titled “Surname Projects – Some Fresh Ideas.” http://www.slideshare.net/FamilyTreeDNA/y-dna-surname-projects-some-fresh-ideas
Another excellent presentation discussing Y DNA results was “YDNA maps Scandinavian Family Trees from Medieval Times and the Viking Age” by Peter Sjolund.
Peter’s session at the genealogy conference in Sweden this year was packed. This photo, compliments of Katherine Borges, shows the room and the level of interest in Y-DNA and the messages it holds for genetic genealogists.
This type of work is the wave of the future, although hopefully it won’t be so manually intensive. However, the process of discovery is by definition laborious. From this early work will one day emerge reproducible methodologies, the fruits of which we will all enjoy.
Haplogroup Definitions and Discoveries Continue
Often, haplogroup work flies under the radar today and gets dwarfed by some of the larger citizen science projects, but this work is fundamentally important. In 2015, we made discoveries about haplogroups A4 and C, for example.
Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
New Haplogroup C Native American Subgroups
Native American Haplogroup C Update – Progress
These aren’t the only discoveries, by any stretch of the imagination. For example, Mike Wadna, administrator for the Haplogroup R1b Project reports that there are now over 1500 SNPs on the R1b tree at Family Tree DNA – which is just about twice as many as were known in total for the entire Y tree in 2012 before the Genographic project was introduced.
The new Y DNA SNP Packs being introduced by Family Tree DNA which test more than 100 SNPs for about $100 will go a very long way in helping participants obtain haplogroup assignments further down the tree without doing the significantly more expensive Big Y test. For example, the R1b-DF49XM222 SNP Pack tests 157 SNPs for $109. Of course, if you want to discover your own private line of SNPs, you’ll have to take the Big Y. SNP Packs can only test what is already known and the Big Y is a test of discovery.
Jim Bartlett, hands down, receives this award for his new and wonderful blog, Segmentology.
Making Sense of Autosomal DNA
Our autosomal DNA results provide us with matches at each of the vendors and at GedMatch, but what do we DO with all those matches and how to we utilize the genetic match information? How to we translate those matches into ancestral information. And once we’ve assigned a common ancestor to a match with an individual, how does that match affect other matches on that same segment?
2015 has been the year of sorting through the pieces and defining terms like IBS (identical by state, which covers both identical by population and identical by chance) and IBD (identical by descent). There has been a lot written this year.
Jim Bartlett, a long-time autosomal researcher has introduced his new blog, Segmentology, to discuss his journey through mapping ancestors to his DNA segments. To the best of my knowledge, Jim has mapped more of his chromosomes than any other researcher, more than 80% to specific ancestors – and all of us can leverage Jim’s lessons learned.
Segmentology.org by Jim Bartlett
When you visit Jim’s site, please take a look at all of his articles. He and I and others may differ slightly in the details our approach, but the basics are the same and his examples are wonderful.
Autosomal DNA Testing – What Now?
Autosomal DNA Testing 101 – Tips and Tricks for Contact Success
How Phasing Works and Determining IBS vs IBD Matches
Just One Cousin
Demystifying Autosomal DNA Matching
A Study Using Small Segment Matching
Finally, A How-To Class for Working with Autosomal Results
Parent-Child Non-Matching Autosomal DNA Segments
A Match List Does Not an Ancestor Make
4 Generation Inheritance Study
Autosomal DNA Matching Confidence Spectrum
Earlier in the year, there was a lot of discussion and dissention about the definition of and use of small segments. I utilize them, carefully, generally in conjunction with larger segments. Others don’t. Here’s my advice. Don’t get yourself hung up on this. You probably won’t need or use small segments until you get done with the larger segments, meaning low-hanging fruit, or unless you are doing a very specific research project. By the time you get to that point, you’ll understand this topic and you’ll realize that the various researchers agree about far more than they disagree, and you can make your own decision based on your individual circumstances. If you’re entirely endogamous, small segments may just make you crazy. However, if you’re chasing a colonial American ancestor, then you may need those small segments to identify or confirm that ancestor.
It is unfortunate, however, that all of the relevant articles are not represented in the ISOGG wiki, allowing people to fully educate themselves. Hopefully this can be updated shortly with the additional articles, listed above and from Jim Bartlett’s blog, published during this past year.
Recreating the Dead
James and Catherne Crumley segments above, compliments of Kitty Cooper’s tools
As we learn more about how to use autosomal DNA, we have begun to reconstruct our ancestors from the DNA of their descendants. Not as in cloning, but as in attributing DNA found in multiple descendants that originate from a common ancestor, or ancestral couple. The first foray into this arena was GedMatch with their Lazarus tool.
Lazarus – Putting Humpty Dumpty Back Together Again
I have taken a bit of a different proof approach wherein I recreated an ancestor, James Crumley, born in 1712 from the matching DNA of roughly 30 of his descendants.
I did the same thing, on an experimental smaller scale about a year ago with my ancestor, Henry Bolton.
This is the way of the future in genetic genealogy, and I’ll be writing more about the Crumley project and the reconstruction of James Crumley in 2016.
Lump Of Coal Award(s)
This category is a “special category” that is exactly what you think it is. Yep, this is the award no one wants. We have a tie for the Lump of Coal Award this year between Ancestry and 23andMe.
Ancestry Becomes the J.R. Ewing of the Genealogy World
Attribution : © Glenn Francis, www.PacificProDigital.com
Some of you may remember J.R. Ewing on the television show called Dallas that ran from 1978 through 1991. J.R. Ewing, a greedy and unethical oil tycoon was one of the main characters. The series was utterly mesmerizing, and literally everyone tuned in. We all, and I mean universally, hated J.R. Ewing for what he unfeelingly and selfishly did to his family and others. Finally, in a cliffhanger end of the season episode, someone shot J.R. Ewing. OMG!!! We didn’t know who. We didn’t know if J.R. lived or died. Speculation was rampant. “Who shot JR?” was the theme on t-shirts everyplace that summer. J.R. Ewing, over time, became the man all of America loved to hate.
Ancestry has become the J.R. Ewing of the genealogy world for the same reasons.
In essence, in the genetic genealogy world, Ancestry introduced a substandard DNA product, which remains substandard years later with no chromosome browser or comparison tools that we need….and they have the unmitigated audacity to try to convince us we really don’t need those tools anyway. Kind of like trying to convince someone with a car that they don’t need tires.
Worse, yet, they’ve introduced “better” tools (New Ancestor Discoveries), as in tools that were going to be better than a chromosome browser. New Ancestor Discoveries “gives us” ancestors that aren’t ours. Sadly, there are many genealogists being led down the wrong path with no compass available.
Ancestry’s history of corporate stewardship is abysmal and continues with the obsolescence of various products and services including the Sorenson DNA database, their own Y and mtDNA database, MyFamily and most recently, Family Tree Maker. While the Family Tree Maker announcement has been met with great gnashing of teeth and angst among their customers, there are other software programs available. Ancestry’s choices to obsolete the DNA data bases is irrecoverable and a huge loss to the genetic genealogy community. That information is lost forever and not available elsewhere – a priceless, irreplaceable international treasure intentionally trashed.
If Ancestry had not bought up nearly all of the competing resources, people would be cancelling their subscriptions in droves to use another company – any other company. But there really is no one else anymore. Ancestry knows this, so they have become the J.R. Ewing of the genealogy world – uncaring about the effects of their decisions on their customers or the community as a whole. It’s hard for me to believe they have knowingly created such wholesale animosity within their own customer base. I think having a job as a customer service rep at Ancestry would be an extremely undesirable job right now. Many customers are furious and Ancestry has managed to upset pretty much everyone one way or another in 2015.
AncestryDNA Has Now Thoroughly Lost Its Mind
Kenny, Kenny, Kenny
Dear Kenny – Any Suggestions for our New Ancestor Discoveries?
RIP Sorenson – A Crushing Loss
Of Babies and Bathwater
Getting the Most Out of AncestryDNA
Ancestry Gave Me a New DNA Ancestor and It’s Wrong
Testing Ancestry’s Amazing New Ancestor DNA Claim
Dissecting AncestryDNA Circles and New Ancestors
Squaring the Circle
Still Waiting for the Holy Grail
A Dozen Ancestors That Aren’t aka Bad NADs
The Logic and Birth of a Bad NAD (New Ancestor Discovery)
Circling the Shews
Naughty Bad NADs Sneak Home Under Cover of Darkness
Ancestry Shared Matches Combined with New Ancestor Discoveries
Ancestry Shakey Leaf Disappearing Matches: Now You See Them – Now You Don’t
Ancestry’s New Amount of Shared DNA – What Does It Really Mean?
The Winds of Change
Confusion – Family Tree Maker, Family Tree DNA and Ancestry.com
DNA: good news, bad news
Check out the Alternatives
23andMe Betrays Genealogists
In October, 23andMe announced that it has reached an agreement with the FDA about reporting some health information such as carrier status and traits to their clients. As a part of or perhaps as a result of that agreement, 23andMe is dramatically changing the user experience.
In some aspects, the process will be simplified for genealogists with a universal opt-in. However, other functions are being removed and the price has doubled. New advertising says little or nothing about genealogy and is entirely medically focused. That combined with the move of the trees offsite to MyHeritage seems to signal that 23andMe has lost any commitment they had to the genetic genealogy community, effectively abandoning the group entirely that pulled their collective bacon out of the fire. This is somehow greatly ironic in light of the fact that it was the genetic genealogy community through their testing recommendations that kept 23andMe in business for the two years, from November of 2013 through October of 2015 when the FDA had the health portion of their testing shut down. This is a mighty fine thank you.
As a result of the changes at 23andMe relative to genealogy, the genetic genealogy community has largely withdrawn their support and recommendations to test at 23andMe in favor of Ancestry and Family Tree DNA.
Kelly Wheaton, writing on the Facebook ISOGG group along with other places has very succinctly summed up the situation:
You can also view Kelly’s related posts from earlier in December and their comments at:
My account at 23andMe has not yet been converted to the new format, so I cannot personally comment on the format changes yet, but I will write about the experience in 2016 after my account is converted.
Furthermore, I will also be writing a new autosomal vendor testing comparison article after their new platform is released.
I Hate 23andMe
23andMe to Get Makeover After Agreement With FDA
The Changes at 23andMe
The 23and Me Transition – The First Step
The Winds of Change
Why Autosomal Response Rate Really Does Matter
Heads Up About the 23andMe Meltdown
Now…and not now
Cone of Shame Award
Another award this year is the Cone of Shame award which is also awarded to both Ancestry and 23andMe for their methodology of obtaining “consent” to sell their customers’, meaning our, DNA and associated information.
Genetic Genealogy Data Gets Sold
Unfortunately, 2015 has been the year that the goals of both 23andMe and Ancestry have become clear in terms of our DNA data. While 23andMe has always been at least somewhat focused on health, Ancestry never was previously, but has now hired a health officer and teamed with Calico for medical genetics research.
Now, both Ancestry and 23andMe have made research arrangements and state in their release and privacy verbiage that all customers must electronically sign (or click through) when purchasing their DNA tests that they can sell, at minimum, your anonymized DNA data, without any further consent. And there is no opt-out at that level.
They can also use our DNA and data internally, meaning that 23andMe’s dream of creating and patenting new drugs can come true based on your DNA that you submitted for genealogical purposes, even if they never sell it to anyone else.
In an interview in November, 23andMe CEO Anne Wojcicki said the following:
23andMe is now looking at expanding beyond the development of DNA testing and exploring the possibility of developing its own medications. In July, the company raised $79 million to partly fund that effort. Additionally, the funding will likely help the company continue with the development of its new therapeutics division. In March, 23andMe began to delve into the therapeutics market, to create a third pillar behind the company’s personal genetics tests and sales of genetic data to pharmaceutical companies.
Given that the future of genetic genealogy at these two companies seems to be tied to the sale of their customer’s genetic and other information, which, based on the above, is very clearly worth big bucks, I feel that the fact that these companies are selling and utilizing their customer’s information in this manner should be fully disclosed. Even more appropriate, the DNA information should not be sold or utilized for research without an informed consent that would traditionally be used for research subjects.
Within the past few days, I wrote an article, providing specifics and calling on both companies to do the following.
- To minimally create transparent, understandable verbiage that informs their customers before the end of the purchase process that their DNA will be sold or utilized for unspecified research with the intention of financial gain and that there is no opt-out. However, a preferred plan of action would be a combination of 2 and 3, below.
- Implement a plan where customer DNA can never be utilized for anything other than to deliver the services to the consumers that they purchased unless a separate, fully informed consent authorization is signed for each research project, without coercion, meaning that the client does not have to sign the consent to obtain any of the DNA testing or services.
- To immediately stop utilizing the DNA information and results from customers who have already tested until they have signed an appropriate informed consent form for each research project in which their DNA or other information will be utilized.
And Now Ancestry Health
Heads Up About the 23andMe Meltdown
23andMe and Ancestry and Selling Your DNA Information
Citizen Science Leadership Award
The Citizen Science Leadership Award this year goes to Blaine Bettinger for initiating the Shared cM Project, a crowdsourced project which benefits everyone.
Citizen Scientists Continue to Push the Edges of the Envelope with the Shared cM Project
Citizen scientists, in the words of Dr. Doron Behar, “are not amateurs.” In fact, citizen scientists have been contributing mightily and pushing the edge of the genetic genealogy frontier consistently now for 15 years. This trend continues, with new discoveries and new ways of viewing and utilizing information we already have.
For example, Blaine Bettinger’s Shared cM Project was begun in March and continues today. This important project has provided real life information as to the real matching amounts and ranges between people of different relationships, such as first cousins, for example, as compared to theoretical match amounts. This wonderful project produced results such as this:
I don’t think Blaine initially expected this project to continue, but it has and you can read about it, see the rest of the results, and contribute your own data here. Blaine has written several other articles on this topic as well, available at the same link.
Am I Weird or What?
Jim Owston analyzed fourth cousins and other near distant relationships in his Owston one-name study:
I provided distant cousin information in the Crumley surname study:
I hope more genetic genealogists will compile and contribute this type of real world data as we move forward. If you have compiled something like this, the Surname DNA Journal is peer reviewed and always looking for quality articles for publication.
Privacy, Law Enforcement and DNA
Unfortunately, in May, a situation by which Y DNA was utilized in a murder investigation was reported in a sensationalist “scare” type fashion. This action provided cause, ammunition or an excuse for Ancestry to remove the Sorenson data base from public view.
I find this exceedingly, exceedingly unfortunate. Given Ancestry’s history with obsoleting older data bases instead of updating them, I’m suspecting this was an opportune moment for Ancestry to be able to withdraw this database, removing a support or upgrade problem from their plate and blame the problem on either law enforcement or the associated reporting.
I haven’t said much about this situation, in part because I’m not a lawyer and in part because the topic is so controversial and there is no possible benefit since the damage has already been done. Unfortunately, nothing anyone can say or has said will bring back the Sorenson (or Ancestry) data bases and arguments would be for naught. We already beat this dead horse a year ago when Ancestry obsoleted their own data base. On this topic, be sure to read Judy Russell’s articles and her sources as well for the “rest of the story.”
Privacy, the Police and DNA
Big Easy DNA Not So Easy
Of Babies and Bathwater
Genetic genealogy standards from within the community were already in the works prior to the Idaho case, referenced above, and were subsequently published as guidelines.
Announcing Genetic Genealogy Standards
The standards themselves:
Ancient DNA Results Continue to Amass
“Moorleiche3-Schloss-Gottorf” by Commander-pirx at de.wikipedia – Own work. Licensed under CC BY-SA 3.0 via Commons
Ancient DNA is difficult to recover and even more difficult to sequence, reassembling tiny little blocks of broken apart DNA into an ancient human genome.
However, each year we see a few more samples and we are beginning to repaint the picture of human population movement, which is different than we thought it would be.
One of the best summaries of the ancient ancestry field was Michael Hammer’s presentation at the Family Tree DNA Conference in November titled “R1B and the Peopling of Europe: an Ancient DNA Update.” His slides are available here:
One of the best ongoing sources for this information is Dienekes’ Anthropology Blog. He covered most of the new articles and there have been several. That’s the good news and the bad news, all rolled into one. http://dienekes.blogspot.com/
I have covered several that were of particular interest to the evolution of Europeans and Native Americans.
Yamnaya, Light Skinned Brown Eyed….Ancestors?
Kennewick Man is Native American
Botocudo – Ancient Remains from Brazil
Some Native had Oceanic Ancestors
Homo Naledi – A New Species Discovered
Massive Pre-Contact Grave in California Yields Disappointing Results
I know of several projects involving ancient DNA that are in process now, so 2016 promises to be a wonderful ancient DNA year!
Many, many new people discover genetic genealogy every day and education continues to be an ongoing and increasing need. It’s a wonderful sign that all major conferences now include genetic genealogy, many with a specific track.
The European conferences have done a great deal to bring genetic genealogy testing to Europeans. European testing benefits those of us whose ancestors were European before immigrating to North America. This year, ISOGG volunteers staffed booths and gave presentations at genealogy conferences in Birmingham, England, Dublin, Ireland and in Nyköping, Sweden, shown below, photo compliments of Catherine Borges.
Several great new online educational opportunities arose this year, outside of conferences, for which I’m very grateful.
DNA Lectures YouTube Channel
Allen County Public Library Online Resources
DNA Data Organization Tools and Who’s on First
Genetic Genealogy Educational Resource List
Genetic Genealogy Ireland Videos
DNA Lectures – Who Do You Think You Are
Ongoing and Online Classes in how to utilize both Y and autosomal DNA
Family Tree DNA receives the Education Award this year along with a huge vote of gratitude for their 11 years of genetic genealogy conferences. They are the only testing or genealogy company to hold a conference of this type and they do a fantastic job. Furthermore, they sponsor additional educational events by providing the “theater” for DNA presentations at international events such as the Who Do You Think You Are conference in England. Thank you Family Tree DNA.
Family Tree DNA Conference
The Family Tree DNA Conference, held in November, was a hit once again. I’m not a typical genealogy conference person. My focus is on genetic genealogy, so I want to attend a conference where I can learn something new, something leading edge about the science of genetic genealogy – and that conference is definitely the Family Tree DNA conference.
Furthermore, Family Tree DNA offers tours of their lab on the Monday following the conference for attendees, and actively solicits input on their products and features from conference attendees and project administrators.
Family Tree DNA 11th International Conference – The Best Yet
All of the conference presentations that were provided by the presenters have been made available by Family Tree DNA at:
2016 Genetic Genealogy Wish List
In 2014, I presented a wish list for 2015 and it didn’t do very well. Will my 2015 list for 2016 fare any better?
- Ancestry restores Sorenson and their own Y and mtDNA data bases in some format or contributes to an independent organization like ISOGG.
- Ancestry provides chromosome browser.
- Ancestry removes or revamps Timber in order to restore legitimate matches removed by Timber algorithm.
- Fully informed consent (per research project) implemented by 23andMe and Ancestry, and any other vendor who might aspire to sell consumer DNA or related information, without coercion, and not as a prerequisite for purchasing a DNA testing product. DNA and information will not be shared or utilized internally or externally without informed consent and current DNA information will cease being used in this fashion until informed consent is granted by customers who have already tested.
- Improved ethnicity reporting at all vendors including ancient samples and additional reference samples for Native Americans.
- Autosomal Triangulation tools at all vendors.
- Big Y and STR integration and analysis enhancement at Family Tree DNA.
- Ancestor Reconstruction
- Mitochondrial and Y DNA search tools by ancestor and ancestral line at Family Tree DNA.
- Improved tree at Family Tree DNA – along with new search capabilities.
- 23andMe restores lost capabilities, drops price, makes changes and adds features previously submitted as suggestions by community ambassadors.
- More tools (This is equivalent to “bring me some surprises” on my Santa list as a kid.)
My own goals haven’t changed much over the years. I still just want to be able to confirm my genealogy, to learn as much as I can about each ancestor, and to break down brick walls and fill in gaps.
I’m very hopeful each year as more tools and methodologies emerge. More people test, each one providing a unique opportunity to match and to understand our past, individually and collectively. Every year genetic genealogy gets better! I can’t wait to see what 2016 has in store.
Here’s wishing you a very Happy and Ancestrally Prosperous New Year!
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