Data Mining and Screen Scraping – Right or Wrong?

Data mining, also known as screen scraping has been occurring in the genetic genealogy community for some time now. I had hoped that peer pressure and time would take care of the issue and it would resolve itself, but it has not.

This topic has become somewhat of the pink elephant in the middle of the living room. People are whispering. Some people have adopted the pink elephant as a pet.  Some are trying to ignore it.  A few haven’t noticed and some just kind of accept its presence since no one seems to be able to convince it to leave.  But no one has yet to walk in, take a look, and say “Hey, there’s a pink elephant in the living room.”

pink elephant

Well folks, there’s a pink elephant in the living room and we’re going to talk about it today.

What is Screen Scraping and Data Mining?

Screen scraping and data mining is where (generally) robots visit certain sites online on a scheduled basis and harvest data that is residing there. The harvested data may be used privately after that, or may be reformatted and massaged and then displayed differently on a public site. No notification is given or permission is asked to use the data.

Screen scraping and data mining is different than one person doing a Google search for information about their genealogy or their ancestor utilizing online resources. Screen scraping or data mining is the capturing or targeting of entire data bases. Mining implies searching for just one type of data – like maybe a certain haplogroup – and scraping implies taking everything viewable.  Best case, it’s Google spidering sites for indexing.  Worst case, they are thieves in the night. Like many things, the technology can be used for bad or good.

Let me give you an example which illustrates how I initially discovered this issue.

I administer several projects at Family Tree DNA – both surname and haplogroup. One of my surname project members e-mailed me one day in March of 2013 with a jovial note about their “15 minutes of fame.” The essence of this is that they had just transferred their National Geographic results to Family Tree DNA and the next day, found their results with their new SNPs they were so proud of on a website in Russia. Because of the quality of the site and how quickly those results appeared, they presumed that this was a collaborate research effort between either Family Tree DNA and/or National Geographic and the Russian site.

I took a look, and sure enough, he was right. There, big as life, was his DNA SNPs, his surname and his kit number, on an unauthorized site. I clearly knew that the website was not collaborative, but I confirmed with Family Tree DNA just to be sure, who was aware of it but could not do anything about the screen scraping of the DNA projects.

At that point, my project member attempted to contact the Russian site owner to have the information removed and to ask how they obtained it in the first place.  There was no name on the semargl site, nor e-mail, only a form.  I also attempted to do so and even involved two intermediaries who also attempted to facilitate contact. The site in question had clearly advertised a haplogroup project so I reached out to those project admins to facilitate contact as well. The website owner never replied. However, two days later, the web site owner did remove the surname from the site, but all of the harvested information remains. You can see it for yourself today. Kit number 24162.

semargl1semargl2

In fact, this site has scraped and reconstructed almost all (if not all) of the haplogroup projects at Family Tree DNA. You can see them here.

I conducted a little experiment not long ago wherein I timed how long it took after results were posted at Family Tree DNA for them to appear on this site and it was generally between 24 and 48 hours.  I repeated that this week with my husband’s results which were already displayed on the semargl website (without his permission,) and sure enough, his Big Y results that are displayed on the haplogroup project page at Family Tree DNA were immediately updated on the semargl site with his new SNP information.

One of my haplogroup projects has SNPs “turned off” but the participants data and SNPs are harvested anyway, because the robots don’t just scrape haplogroup projects, but surname projects as well. And almost everyone who joins haplogroup projects joins surname projects.

Have you noticed that the response times at Family Tree DNA are sometimes slow? Well, when robots are searching every project for new results on a daily basis, it does indeed tax their systems.  We know the semargl site uses robots, but there may be more sites we aren’t aware of doing the same thing.

Remember when Ysearch was taken offline entirely and the following message was displayed?

“YSearch is currently unavailable due to an increase in abusive data mining by automated scripts. The site will be unavailable for an extended period of indeterminate duration.”

Well, robots at it again.

Ironically, one of the people I spoke to about this used the fact that YSearch was down to justify why the semargl site was so important – because they duplicated the YSearch info.

How Can They Do This?

The bottom of every single project page at Family Tree DNA displays copyright verbiage, as follows:

ftdna copyright

This clearly includes the contents.  In the context of Russia, where the semargl website is located, this doesn’t matter, but perhaps Judy Russell will tackle the topic of project content ownership relative to the US in one of her columns.

I assure you that I have never been contacted and many of my projects’ contents are shown on the semargl site, complete haplogroup project data along with many participants, specifically those with SNP tests, from surname projects.

If you have had any SNP testing at Family Tree DNA, your results are probably included in this data base.  If you want to see if your kit number is there, you can search by kit number, and just for yuks, try searching by surname too: http://www.semargl.me/en/dna/ydna/search/

When participants join projects, they can clearly expect their results to be shown on the associated project page at Family Tree DNA. In fact, that’s the whole point of genetic genealogy, to be able to find your paternal line, for example, or your genetic cousins. Sharing and comparing.

Do participants expect that their data will be scraped and displayed on a website in Russia, with or without their surname, and entirely without their permission or knowledge?  Many surname project administrators are probably entirely unaware of this themselves.

The answer to “how can they do that?” is that they are in Russia and they are not bound by any US copyright or any other US laws. If you have any doubt about that, think Edward Snowden and why he is in Russia. In fact, the only thing that binds them is a sense of ethics, what’s right and wrong, internet courtesy and a colloquial definition of fair use. As you might have noticed, none of these things are legally binding, especially not on people in Russia.

Ethics speaks for itself. This site obviously sees nothing wrong with taking or harvesting the data from elsewhere without notification or permission.  They also see nothing wrong with retaining, utilizing and displaying data even when it has been asked by the owner to be removed.  Internet courtesy or netiquette would indicate that you would ask permission or minimally, inform the individuals that you are using their data. And fair use would indicate that you credit the individuals for their work and that you would source your data. Given that individuals didn’t grant permission for their information to be included, one should at least have the opportunity for their data to be removed, if randomly discovered, but that isn’t the case.  This certainly explains why they were trying to remain anonymous a year ago, and refused contact.

As one participant said to me, “Just because the technology door can’t be locked to prevent this type of activity, does that make taking something that doesn’t belong to you any less of a theft?”

In discussions surrounding this topic, a highly respected project administrator said the following:

“I do not think any person today should have a reasonable expectation that anything displayed on the Internet can be expected not to be copied because it is public info – fair game to a third party as long as the fair use doctrine is observed. If I copied that particular person’s results to my website as an example of something it comes under fair use – as long as I indicate the source for the info. But when someone copies large numbers of items or fails to show the source of the info, it is no longer fair use.”

This isn’t the only situation like this, although it is by far the most blatant.

Recently, I saw a draft of a “paper” where an entire haplogroup project was “analyzed” using a third party tool without knowledge or involvement of the administrators, nor appropriate credit given for their project. Clearly, without their efforts in the project, the analysis paper could not have been written because the project would not exist. While that paper involves one person, this website involves many, is very public, and now the owner(s) have also formed and are part of a company. The website also solicits donations as well.

semargl sidebar

You’ll notice that YFull is advertised on their website, under the donate button. The ISOGG Wiki provides the following information about YFull.

“YFull.com was founded in 2013 and focuses on the interpretation of Y-chromosome sequences. The main aim of the project is to provide services for the analysis of full Y-chromosome raw data (BAM) files and convenient visualization. The data is collected and analysed and newly discovered single-nucleotide polymorphisms (SNPs) are placed on an experimental Y-tree. Haplogroup and thematic projects are offered. The YFull service is located in Moscow, Russia.”

The YFull product analysis deliverables have been covered by two bloggers here and here.

The YFull team is listed in the Wiki article as follows:

  • Vadim Urasin (aka Wertner): active participant of the DNA genealogical community since 2008, the developer of robots to collect Y-data from public sources, “Y-predictor” developer, FTDNA group administrator, developer of the Y-series SNPs (for R1a, J2b, R2a, Q, O etc).
  • Roman Sychev (aka Maximus Centurion): active participant of the DNA genealogical community since 2006, since 2007 as moderator dna-forums.org (aka Maximus), molgen.org, FTDNA group administrator, developer of the Z-series SNPs (for R1a, I1, J2b), developer of the Y-series SNPs (for R1a, I, R2a, J2b, Q, O etc).
  • Vladimir Tagankin (aka Semargl): active participant of the DNA genealogical community, the DNA database “semargl.me” developer, FTDNA group administrator and co-administrator, developer of the Z-series SNPs (for R1a, I, J2b), developer of the Y-series SNPs (for R1a, J2b, R2a, Q, O etc).

You’ll note that the team includes two people who are credited with developing the mining/screen scraping robots and the developer of the semargl.me database.  Also please note that all 3 are listed as group administrators at Family Tree DNA, which, given the circumstances, seems to be in violation of the Project Administrator Guidelines.  I wonder if Family Tree DNA is aware of this and if project members understand what their project administrator is doing with their DNA results.

I happened to be working with someone’s results who are in the R1a1a and Subclades project.  I noticed a familiar name among the project co-administrators at the bottom of the list.

semargl admin

I have not checked other projects.

This is particularly unfortunate, because the haplogroup projects have been key players in terms of encouraging SNP testing, sorting through results and defining key haplogroup subgroups.  Project participants join haplogroup projects to further science and research.  They expect the administrators to work with the results, but working with/ analyzing the results and reproducing the results on another site is not the same.  Furthermore, being both a project administrator and the same person whose robots are scraping the FTDNA project sites to reproduce elsewhere without permission seems like a wolf masquerading as a shepherd to gain access to lambs.

Of course, the fully sequenced Y results are not posted to the public pages of projects, so they can not be harvested in full by robots like the individual SNP results, including Nat Geo transfers and Walk the Y results. Enter the free analysis provided by YFull to individuals who receive their fully sequenced Y results from either the Big Y at Family Tree DNA or the Full Y from FullGenomes.

When I first looked, there were no terms and condition, but there are terms and conditions on the YFull site today, at the bottom of the main page.

YFull t&c

4.2 We may disclose to third parties, and/or use in our Services, “Aggregated Genetic and Self-Reported Information”, which is Genetic and Self-Reported Information that has been stripped of Registration Information and combined with data from a number of other users sufficient to minimize the possibility of exposing individual-level information while still providing scientific evidence. If you have given consent for your Genetic and Self-Reported Information to be used in YFull.com Research, we may include such information in Aggregated Genetic and Self-Reported Information intended to be published in peer-reviewed scientific journals. We emphasize that Aggregated Genetic and Self-Reported Information will be stripped of names, physical addresses, email addresses, and any other Personal Information that may be used to identify you as a unique individual.

4.3 We may disclose to third parties – Yfull.com. Partners or service providers (e.g. our contracted genotyping laboratory or credit card processors) use and/or store the information in order to provide you with YFull.com’s Services.

Is Screen Scraping and Data Mining Wrong?

There are two sides to this argument.

At the time of the initial discovery, a year ago, with my project participant, based on my communications with some project administrators, it was clear that at least some of the admins knew of this activity and were supportive.

Why?

Because they perceived that the data was “public domain” and the resultant semargl website and “knowledge base,” as they phrased it, justified the means. These sentiments were expressed by multiple project administrators, separately, although now I realize that at least one of these people is a project co-administrator with the semargl owner, whose identity I didn’t know at that time. Their interpretation of public domain is incorrect, because public domain refers to works “whose intellectual property rights have expired” and this is clearly not the case. What they probably meant was that since the data has been posted publicly, from their perspective, the data at that point is freely available to use.

In some circumstances, that might at least partially be true.  But since this site is in Russia, they are not bound by any laws here and they clearly did not choose to abide by any of the generally accepted netiquette standards.

Having said that, the semargl site is wonderfully done and extremely informative, which is why genetic genealogists have embraced it.  Many probably don’t realize how the data has been obtained.  Combine that with the mindset of “there’s nothing we can do about it anyway,” since they are in Russia, and many have simply resigned themselves to the fact that the situation is what it is.  Besides that, brining this topic up causes you to be extremely unpopular in some camps.

Semargl vs Family Tree DNA

This is probably a good time to define how the semargl site is different than the Family Tree DNA site.  Family Tree  DNA is focused on genealogy, which includes surnames and oldest ancestor information.  They also support and encourage testing of markers that reveal deeper ancestry, before the advent of surnames, which falls into the anthropological timeframe.  After all, that’s still the history of our ancestors, revealed in their DNA – but before surnames.  At Family Tree DNA, people join themselves to projects and they give permission when testing for comparison of their data.  If they so choose, then can remove their data from projects, make their information entirely private or remove it entirely from the data base.  In other words, they own and control their data.

The semargl site does not focus on genealogy and is generally focused on haplogroup definitions (by both SNP and STR markers) and population movement and settlement relative to haplogroup subgroups.  In that way, it’s more of a research support endeavor.  It’s not genealogy focused although it has the potential of helping genealogists understand the genesis of their ancestors before surnames.  Having said that, they do have marker matching capabilities but without surnames displayed.

Of course, we know how they obtain their data, screen scraping the Family Tree DNA and YSearch sites, and that people whose data is displayed have not given permission and may be entirely unaware their data appears on that site.

Let’s look at an example of what semargl has done with DNA information. I’ll use haplogroup Q since it is a smaller haplogroup than others and one I’m familiar with.

They have divided haplogroup Q into 30 groupings based on SNPs. Each of these branches has its own map. The Q1b-Ashkenazi map is shown below with associated kit numbers to the right under the ad.

semargl q

The map above, is by SNP, not by STR or individual match like the project and personal maps at Family Tree DNA.

This is followed by a table of STR marker haplotypes, by kit number, which is exactly like the data at Family Tree DNA.

semargl q str

STR table in color.

semargl q str color

Each haplogroup by SNP has a distribution map. This is not by subgroup, but by main haplogroup. Haplogroup Q is shown below.

semargl q pie

You can also select any SNP to view. I’ve selected L294 at random. Notice that the results are noted as from FTDNA (with kit number) or YSearch (with user ID) and those are the only sources given, so the origin of the data is very clear.

semargl snp

You can also inquire by country. Albania has primarily three haplogroups found.

semargl albania

You can query by haplogroup placing results on maps and other types of queries as well.

This owner(s) of this site has done a prodigious amount of work, and it is all very useful, and very well done. It’s actually too bad this isn’t a collaborate work, because I think it would have been very well accepted under different conditions.  Most people would have gladly given permission had they been asked.

Unfortunately, the method used to obtain the data generates a lot of unanswered and pretty ugly questions.

Begging the Questions

Some people feel that if this site were to disappear, that the genetic genealogy community as a whole would suffer. It is the only location where aggregated SNP data is processed and analyzed in this manner.

They also feel that because the individual information has been publicly posted elsewhere, in this case, in Family Tree DNA projects, that this site, and others who might be doing the same thing, have done nothing wrong, unethical or inappropriate.

Others feel that this screen scraping/data harvesting of Family Tree DNA project data is an ethics violation in the strongest terms and that if this activity had been undertaken by someone within the US or within reach of the US via copyright treaty, it would be prosecutable under copyright laws.

Originally, many felt that since these people were “just genetic genealogists” trying to understand results, focused on just a few haplogroups in which they were personally interested, and since they weren’t selling anything, that there was no conflict of interest. However, the site has clearly grown exponentially and evolved over time, robots created and utilized, donations are being solicited, and now a company is involved as well, formed in 2013.  And now we discover that the site owner is a project administrator at Family Tree DNA, giving them unprecedented access to DNA results beyond what is available publicly.  One might suggest that is a conflict of interest.  In defense of Family Tree DNA, a year ago it was almost impossible to discern the name of the person behind the semargl site and I was never able to obtain an e-mail address, even though it was clear that the intermediaries were communicating with him.  People on the internet use pseudonyms and screen names regularly, as you can note in the Wiki entry about the YFull team.

Clearly, the people responsible for the robots that were and continue to disrupt the Family Tree DNA site and taking YSearch down have to be aware of that and they didn’t and haven’t stopped their activities. Was it these robots? I don’t know for sure, but semargl has obviously been utilizing robots, screen scraping the Family Tree DNA site for more than a year based on when my participants data was harvested.  In fact, they are still utilizing robots, because my husband’s Big Y SNPs that were posted at Family Tree DNA (a subset of his total SNPs) one day this week were displayed on the semargl site the following day.  Furthermore, one of the YFull principals is credited with developing these robots and is also noted as being a project administrator.  Project administrators are supposed to be trusted stewards of the DNA of their participants.

Because the provider’s services were disrupted, one can’t really argue that no one has been damaged. Family Tree DNA has clearly been and continues to be impacted, their customers have been inconvenienced.  Family Tree DNA spends money on bandwidth and staff to deal with these issues.

Some would assert that the expectations and rights of those whose results have been pirated, harvested or stolen, depending on your perspective, have been violated because the results have been used without permission of the participant. Others would say that there has been no harm because the results are anonymized (currently) on the semargl site with the surname removed from the display and they were retrieved from a publicly available source.  However, the surname is still stored in the semargl system, because you can query by surname and all kits numbers with that surname are returned.  With some creative Googling, you can uncover the surname relatively easily given just the kit number on the semargl site, but I know of no way you could discover the actual identity of an individual unless that person was the only person in the world with that particular surname, or if they had themselves posted their name and kit number together on a public venue.

If participants refuse to join projects in the future, or withdraw from projects because they don’t want their data to be harvested by sites like this, then genetic genealogy as a whole has been damaged.  Then so have you and I as genetic genealogists.

Let me quote my husband, who never gets ruffled, this evening, when I showed him his results.  He knew nothing about any of this before I sat him down at my computer and showed him his results, first at Family Tree DNA, where he was excited to see his extended haplogroup and Big Y Novel Variants, and then on the semargl site.  I wish I had taken a picture of the shocked look on his face.  Here’s what he had to say when he saw his results on the semargl site:

“What the <bleep>?  How did they get there?”

Pause for a moment while the reality soaked in.

“Get them off there.  They have no right.”

I really can’t quote anymore of what he said and remain family friendly, but suffice it to say the word appalled was used several times, along with horrified, and when I showed him that the semargl data base owner was a co-administrator of his haplogroup project, he shifted to utterly livid and suggested that Family Tree DNA remove him and whoever added him as a co-administrator as well for complicity.  In fact, his “suggestions” went even further, to removing all of the project admins as co-conspirators, because they obviously knew what their co-admin was doing and did nothing to protect his data, as a project member.  In fact, some of them may well be involved in the exploitation of his data.

His uncomfortable questions continued, like “How can that be?” and “Does he have the rest of my data too?”  Suffice it to say my husband is utterly furious, and when I told him that I can’t have those results removed from the Russian site, and why, it got even worse.  Maybe it’s a good thing they are in Russia.

On the other hand, others argue that many benefit from the semargl site and that the people who join projects and whose results are publicly posted had no reason to expect that their results would not be harvested or utilized by someone, at some time.  Try explaining that to my husband, whose comment when he saw the ‘donate’ button right beside his results on the semargl said to me, “How is that right, they’re getting money for something they stole?  My DNA results, that I paid for.  My God, they had my results posted on their site before I even had a chance to look at them at Family Tree DNA.”

One DNA project clearly states on their main project page that once you post your information on the internet, it can never be entirely “removed.”  Of course, DNA testing for genealogy without sharing is entirely pointless.  Where is the line between sharing, when an individual intentionally joins a project, posting their own data, and theft?

The only difference between cousin Johnny discovering that you descend from the same genealogy/genetic line based on your surname project at Family Tree DNA and Russian data miners harvesting the data is the order of magnitude, intention and methodology. As someone else has pointed out, not dissimilar from the difference between consensual sex and rape.

Another perspective is that because we are here and they are in Russia, there’s nothing we can do about it, anyway, so why sweat it and just enjoy the benefits.  Right? Besides, as has been pointed out to me, we don’t want participants to become upset and withdraw from projects or not join, so we won’t discuss the elephant in the room.  What pink elephant?  I don’t see a pink elephant.  And we certainly, most certainly, do NOT want to have to answer any of those uncomfortable questions my husband asked me this evening.  After all, their DNA is already out there and there’s nothing to be done about it now, so don’t make waves.

“Doing something” now to prevent harvesting, assuming there was anything that could be done, is like closing the barn door after the cow has already left, or, in this case, the pink elephant.

This fatalism sounds a whole lot like the thought process involved in how slavery was justified along with gender and race discrimination and Hitler’s genocidal atrocities.  I’m not equating data mining to those things, but I am saying that the thought process that “we can’t do anything about it” or “everyone else is doing it,” so we accept it and even participate can be a deadly, slippery slope.  And if it’s wrong, ignoring, tolerating or accepting it certainly doesn’t make it right.

Let me share a parting thought from my husband, after he calmed down enough to speak coherently.

“I feel unclean.  I feel like I’ve been violated.  My DNA has been kidnapped and I’ve been genetically raped.  It’s wrong.  It’s just wrong, in so many ways.”

So….you tell me…

Harvested, pirated or stolen? Right or wrong? Ethical or unethical? Malicious or not? Theft? Plagiarism? Does the end justify the means? Perfectly fine?

I shared with you my husband’s reaction. He’s not involved in this field like I am.  He’s much more of the typical “end consumer.”  I’m not telling you what I think. You decide for yourself.

Note:  I thought that participants would be able to view the comments entered in the “other” field.  Since you can’t, here’s what they say:

  • Inevitable
  • Wrong, unethical, non consensual, and exploitive
  • Thank you for letting us know about this.
  • It’s criminal
  • FTDNA should learn from the semargl site, then it would be more useful and legal

Mitochondrial DNA Results from the Big Y Test

Say what? Mitochondrial results from a Y DNA test? You must be kidding? It’s April Fool’s Day, right???

“Not funny,” you say…

Keep reading:)

Felix’s Thought Logs, by Felix Chandrakumar, a software engineer from Australia, ran a nice article about the deliverable report from a company called YFull that does an analysis of the output of the fully sequenced Y chromosome files from either Family Tree DNA (Big Y) or Full Genomes (Full Y). I did find this report very interesting, but having said this, I would NOT go so far as to recommend this service. It’s free, and I know that’s enticing, but there really is no such thing as a free lunch.

YFull lists no terms of service. What are they doing with the DNA results, other than analyzing them for you? Are they also processing or retaining them in some other manner, for something else? There has to be a benefit of some sort to YFull, and they don’t tell us what that is. You can read more about YFull here. The YFull service is located in Moscow, Russia.

Until I fully understand what is being done with the files and results, I certainly will never recommend anyone send files to an unknown foreign entity under uncertain circumstances. Furthermore, Russia is outside the legal reach of people in the US if a dispute arises. There is no available recourse. Looking at the owners, and the websites they are involved with, are the DNA results being incorporated into those sites? Again, without terms of service and full disclosure, as consumers, we have no way of knowing.

Now that we have that housekeeping out of the way, let’s take a look at a very unusual report.

When reviewing Felix’s YFull results, I was very surprised to notice one screen in particular – his mitochondrial DNA.

Felix mito

This, of course, begs the question of how, on a Y chromosome test, can one obtain mitochondrial DNA results? To the best of my knowledge, there is no mitochondria on the Y chromosome.

mito y nucleus

In fact, the mitochondrial isn’t even in the cell nucleus with the X and Y chromosomes – it’s outside. So, how can the Y test be returning mitochondrial results?

I turned to Dr. David Mittelman, PhD, geneticist and Chief Scientific Officer for Gene by Gene, parent company of Family Tree DNA for answers.

Dr. Mittelman has been gracious enough to provide insights into how this happens.  See, no April Fools joke afterall!

Q. Dr. Mittelman, can you please confirm that the mitochondrial DNA and the Y chromosome are completely separate entities?

A. The mtDNA and Y chromosome are still separate entities 🙂

Q. Then how are mitochondrial DNA results being returned in conjunction with the Big Y test?

A. When you perform capture sequencing, you enrich for specific targets (in this case, the Y chromosome) but enrichment means you also get trace amounts of other sequences in the genome.

Q. Are these mitochondrial results high quality? Does the Big Y test cover all 16,569 mitochondrial DNA locations, like the full mitochondrial sequence test?

A.These mitochondrial results do not represent a high quality, high coverage sequence; and it does not give you the full mtDNA sequence — however in many cases you get enough markers to assign a haplogroup. You would probably prefer the complete sequence, however, if you want to use mtDNA for genealogical matching. Furthermore, since these are incidental findings, they are not reported on your mitochondrial page at Family Tree DNA, so no matching is possible. Only the specific mitochondrial tests designed for complete mitochondrial DNA coverage are reported on your personal page as results.

Q. If there are mitochondrial insertions, deletions or heteroplasmies, will the Big Y test be able to “see” those?

A. Yes but again the biggest limitation is coverage. At lower coverage and with fewer high quality reads, it is harder to resolve heteroplasmies and even some insertions and deletions. The BigY does not contain enough information to fully characterize all your variants in your mtDNA sequence, which is why we do not advertise it as such. It is exciting, however, to see that others are trying to extract value from the data. That is a key reason we make the raw data available. We are eager to see what complementary tools and insights other folks come up with.

Q. So, from what you’re saying, it sounds like the Big Y sequencing process may return an indeterminate amount of mitochondrial information, but it should not be relied upon as there is no guarantee that it is accurate or complete. In other words, they are simply incidental findings that are included coincidentally. Haplogroups predicted from this information may be incorrect or incomplete based on the quality or lack thereof of the incidental mtDNA data.

A. Certainly we did not design BigY to return your mtDNA sequence and I have not personally reviewed the accuracy of YFull, but it is possible for some customers to get some bonus mtDNA data. I think to gain more clarity it would be valuable to compare mtDNA data from the BigY to high quality, full mtDNA sequence from the same customers. Comparing that data would tell us more about the accuracy and value.

Following up on Dr. Mittelman’s suggestion, I checked with Felix about the accuracy of his mitochondrial results.

Felix has had his full mitochondrial sequence tested at Family Tree DNA. He reported that the YFull report found all of his 31 mutations, except for one in the coding region, and that another mutation, 315.1 was reported as 310. His haplogroup is accurate, but if some of the mutations missed were haplogroup defining mutations, it certainly could be, and probably would be estimated incorrectly. Not at all bad though, for an incidental freebie!

I want to thank Felix for being gracious enough to allow me to use his mtDNA results and Dr. Mittelman for his insights.