You just never know who you’re talking to on the internet. Justine Petrone and I had exchanged e-mails about genetic genealogy in the past. Earlier this week, I received an different type of e-mail from Justin, as the editor of GenomeWeb’s BioArray News which covers the microarray and biochip sector of the genomics market. Justin, it turns out, has been writing about SNPs for a long time!
Justin’s personal genetic genealogy adventures had inspired him and he was in the process of writing an article about what he termed DIY array data analysis – “downloading your raw data and playing around with it with a variety of online calculators.” He said he found it intriguing that “thousands of people with limited scientific backgrounds are becoming amateur bioinformaticians and swapping SNP data with one another.” Kind of the techo version of swapping spit, pardon the pun.
I have to tell you, this intrigues me too – not just because it’s happening, but because it’s happening on such a huge scale and that it’s being productive in ways we couldn’t even imagine just a few years ago. For an example, take a look at my recent (and still in process) series titled, “The Autosomal Me” (Part 1 is at the bottom).” Part 8 was published this week, Part 9 is still to come.
Yesterday, Justin’s article was published, “Customers of Ancestry Testing Services Turning to DIY Analysis Tools to Reanalyze Raw Array Data.” Unfortunately, the full article is available for subscribers only, and a trial subscription is $95 for 3 months. Remember, this is a professional journal for scientists – not for hobbyists, so while it’s steep for our end of the world, it’s normal in the professional arena.
Update note – Justin has generously offered to provide a complimentary copy of the article to those in the genetic genealogy community. To request the article, contact Justin at firstname.lastname@example.org.
So let’s take a look, in general, at what Justin had to say.
Justin did a great job, I think, of portraying this new DIY phenomenon fairly. He interviewed the heavy hitters in this field: representatives from Ancestry.com and 23andMe, Spencer Wells from National Geographic’s Genographic project, Bennett Greenspan from Family Tree DNA, Dienekes Pontikos, author of Dienekes’ Anthropology World, Dr. Doug McDonald, author of some of the earliest BGA software, Razib Khan, author of Discover Magazine’s Gene Expression blog, and me.
Of course, Justin couldn’t discuss this topic without talking about GedMatch, which has become the default toolbox for DIY autosomal DNA analysis, with the exception of Doug McDonald who performs complimentary biogeographical analysis. Doug’s tools are not available at GedMatch.
The good news is that every one of the people that Justin interviewed was positive about the DIY phenomenon. Of course, there were caveats about not taking every tool at face value, about actually analyzing not just accepting, and about security and privacy – but overall, these folks all agreed that individual analysis is not just a good thing, but full of potential.
I particularly like the quote by Dienekes. He said that these tools are good for science “because of the plurality of eyes” which means that interesting patterns may emerge “that might be missed in more narrowly-focused research.” Not only is this true, but the sheer magnitude of participation and data provides such good fodder for discovery – not just by the new wave of citizen scientists, but for academics who want to collaborate and focus on particular topics too.
In my discussions with Justin this week, I remembered that what I’ll call the Citizen Science Revolution was really spurred in 2005 by Leo Little, now deceased, in whose honor Thomas Krahn named the L SNPs discovered at the Family Tree DNA lab. Leo must be getting a good chuckle about now. See what you started Leo?
In December of 2010, I was personally involved with another citizen scientist discovery which marked a major milestone in haplogroup Q, delineating the European Q from the Native American version. This discovery involved Lenny Trujillo, the participant who happened to be my client and Rebekah Canada, one of the administrators of the haplogroup Q project, plus Thomas Krahn at the Family Tree DNA lab.
And of course, we all know about the most recent discovery of the root of the Y tree, A00 involving Bonnie Schrack, a citizen scientist, Michael Hammer from the University of Arizona and again, Thomas Krahn at the Family Tree DNA lab.
There have been more, many more, but these are three of the most memorable contributions to the genetics field by citizen scientists. The message here is that anyone who chooses to ignore the citizen science trend, this flash mob of genetics, does so at their own peril. It’s encouraging to see that this trend is being embraced, albeit slowly, by the larger genetics community.
We have been fortunate that the first wave of citizen scientists in genetic genealogy were often doctors or scientists in other venues who brought with them their understanding and computational skills to apply this new, and often most personal, arena. With DIY tools available, the second wave has started now. We’re educating the newcomers, helping them though blogs, education from the testing companies and through project administrators, ISOGG and ISOGG’s wiki, a variety of webinars sponsored by various groups, conferences and online lists and forums to understand their results. In turn, as new initiates become educated in this emerging field, they bring with them their unique skill sets, background, genealogy and perspectives, and lo and behold, we have the new emerging model, Citizen Scientist 2.0!