Saturday, November 16, 2013
Spencer Wells, Director of the Genographic Project (GENO 2.0) sponsored by National Geographic, is scheduled to travel to County Mayo this weekend to announce that it appears SNP R-M222 may have originated there. This gene is associated with Scots Irish descent. Dr.Wells is also expected to identify more that 20 more recent SNPs that branch the gene flows below R-M222. These findings should be of great assistance to Scots Irish researchers by helping them narrow the focus in their search for their ancestral homelands.
Friday, November 15, 2013
At the moment I'm riding the crest of the BIG Y-SNP tsunami. Both my kit and that of my deceased father-in-law are showing on our respective personal pages at FTDNA as:
So we seem to have made it into a batch that started processing on Wednesday. IF all goes well, I should have my results available to contemplate as I watch the ball drop on New Years Eve.
It would be unusual if a project as "big" as BIG Y actually came off without a hitch and on schedule. However, miracles do happen. As some of you have heard me say, I was born in Missouri, the "Show-Me" state, and l an a slow learner. Therefore I believe most things two weeks after I see them.
So the first batch may or may not come back on time. I'm not sure how often batches will be started. That depends on how many orders are received. So the second batch of BIG Y tests may be a decent interval behind the first.
With Y STRs my Dowell DNA project has been able to reconstruct the exact 111 marker results of my 6th great-grandfather Philip Dowell who died in 1733 in Southern Maryland. Where was he or his ancestors before he showed up as an established tobacco planter in the 1690s and where did he get all his "guY DNA?" My voyage of discovery takes on a new leg -- surfing the BIG-Y.
UPDATE: FTDNA has posted this FAQ:
UPDATE: FTDNA has posted this FAQ:
How soon will I have my BIG Y results?
We plan to release the first set of BIG Y results in February 2014.
Does anyone want to start a pool to predict the date I'll actually get my results?
Wednesday, November 13, 2013
The International Society of Genetic Genealogists (ISOOG) is a totally voluntary organization that does not charge dues. However, since 2006 it has been responsible for maintaining the Y-DNA Haplogroup Tree 2013 for researchers and testing labs around the world. The number of SNPs being discovered has been exploding since the end of 2010 and this is just the beginning. The recent wave of newly discovered SNPs have resulted from the Walk the Y, GENO 2.0 and 1,000 Genomes projects as well as the normal discovery processes of investigation by academics and citizen scientists.
End of year
Cumulative # of SNPs in tree
The tsunami has yet to come. Geno 2.0 has not yet published all its SNPs. Treasure troves of additional SNPs from FullGenomes and FTDNA’s Big Y tests loom just over the horizon. These have the potential to identify and place thousands of here-to-fore unknown SNPs. Many of these will be leaves toward the ends of branches on the Y-DNA Haplogroup Tree. They will be recent enough to connect with the documented trees by genealogists.
In anticipation of this bounty and the chaos that may accompany it, those members of the ISOOG group who maintain this tree who were able to gather in Houston on Saturday planned for this event.
It is clear that our processes need to be reorganized and streamlined if we are going to be able to continue to serve the genetic genealogy community and researchers in related disciplines in a timely basis.
Monday, November 11, 2013
I’m going to report on a few of the highlights of Family Tree DNA’s 9th International Conference on Genetic Genealogy which I attended in Houston this past weekend. In this post I will discuss a completely new Big Y test and FTDNA’s holiday sale. Other highlights will have to wait for another day.
The big Y test has been a long time in the making. Back in June I had asked FTDNA’s CEO Bennett Greenspan if he had any advice for anyone thinking about ordering an “Early Bird Special of $1,250.00 USD” from FullGenomes new complete Y-chromosome test that was then just beginning to accept orders at $1250 a pop. Bennett responded in part that I could not blog about it but it might be wise to wait until he made a new product announcement in the near future that might be more cost effective. Saturday he made that announcement.
You may not notice in the fine print of the picture that this new test is discounted 25% from now until the end of November. The test is definitely not for everybody. Even at the discounted price it still costs $495. You can subtract another $10 off the price if you upload a GEDCOM file to your FTDNA page and copy the code you receive into your order page.
Like any genealogy test you should only take this test with malice of forethought. ONLY ONE or at most two men who are closely related should take this test on behalf of other family members. You should consider pooling your money and sponsoring one person to take the test.
The new test is called the Big Y. Orders are now being accepted from existing customers only. You must be logged on to your FTDNA account to see the information about the test. For those of you that are somewhat familiar with Y-DNA testing, the values you are used to seeing on the 12, 25, 37, 67 & 111 marker tests are for short tandem repeats (STRs). Some of these values change every several generations so they are good for genealogists because they generally separate relatives from those with whom you are not closely related.
The new test is targeted to identify single nucleoid polymorphisms (SNPs). Our entire human instruction manual is written in our cells using a 4 letter alphabet which is reported to us at any given location as A, G, C or T. In the double helix of DNA mutations cause an A & G or a C & T to trade places. SNP mutations are generally a permanent change.
The history of our ancestors' journey from the dawn of time is recorded in our cells. It gives us another tool that MAY help us demolish genealogical brick walls that have stymied our research. At least for now we are not using this tool to match will others. That may come later. Rather we are trying to refine the path from our ancient clans down into genealogical time--since most of us have had surnames). In this quest some of us will be successful and some of us will not.
In my own case I can thoroughly document my 6th great-grandfather Philip Dowell who died in 1733. Enough of his current descendants have tested that we know what his exact 111 Y-chromosome markers were. But this still has not given us any real clues about where he and his ancestors were before he showed up as an established tobacco planter in Southern Maryland in the 1690s. His haplotype, as far as we have been able to break it down is very common in the British Isle--and to a lesser extent in other parts of Western Europe. I am hoping that this Big Y test will help refine this much further. I don't realistically expect that it will narrow down his origins to something as specific as one of today's zip codes. However, any clues would be appreciated after looking for his origins for almost half a century.
I'm also having the DNA of my father-in-law tested. His great-grandfather came from somewhere in Ireland to Chicago in the 1850s. He died in 1864 at the young age of 34 when his son was only 4. What few traces he may have left were largely destroyed in the 1871 Chicago Fire. To date he also has no close DNA matches that would help us pin down where in that island we should be looking for his point of departure.
This Big Y test may not be for you. However, if it is something that might help your research, it would be beneficial to act BEFORE THE END OF NOVEMBER. Of course if you are not yet an FTDNA customer you are not eligible to for the introductory price. However, FTDNA is offering a wide array of other tests at sale prices that will be available until the end of December. If you are trying to think of a present for a friend or family member who has everything, consider these possibilities: an initial test, an upgrade of an existing test, and two different tests in combination.
If you are not sure where to begin testing or what a particular test might tell you, feel free to email me: InfoDoc [at] DDowell [dot] com or post a question in the comment box below.
In my next post I will describe one of the interesting scientific questions that was raised at the conference.
Posted by Dr D at 6:25 PM
Tuesday, November 5, 2013
Do not get the steps out of order!
Take a random sample of approximately 3 billion bases of DNA that broadly represent each of the 23 chromosomes from the nucleus of a cell of a female of the species.
Take a random sample of approximately the same number of bases of DNA that broadly represent each of the first 22 chromosomes from the nucleus of a cell of a male of the species.
Recombine thoroughly. (Stir but don’t shake. No shaken baby syndromes allowed.)
Chose the gender of baby:
a. Add a Y-chromosome intact from the male to create a boy; or
b. Add an X-chromosome intact from the male to create a girl.
Add mitochondria from the female to energize the new organism.
Incubate in a warm womb for nine months.
Warning: The next 18 years will be the roughest.
Posted by Dr D at 1:45 PM
Sunday, October 13, 2013
Apparently the Genealogy Roadshow production company is planning for the show to return to PBS next season. The final show for season one filmed in Austin is due to air tomorrow night. A website at www.grcasting.com is soliciting applications for next season. I can only assume that "grcasting" stands for Genealogy Roadshow casting.
Let's hope they are starting production early enough the second time around so that more DNA results can be included if appropriate. In the shows aired thus far this season the time schedule did not seem to allow testing results to get back from the lab in time to be included except for a couple of admixture reports. Although admixture reports can answer some genealogical questions, in most cases they are now the softest science in DNA testing. The DNA results are not wrong. However, the underling population studies are too scanty for most geographic areas to make highly accurate predictions that can be relied on to tie a set of results to specific locations at specific times.
DNA testing is not appropriate to answer all genealogical questions. However, it is strange that Who Do You Think You Are? went a whole season without any on camera testing and Genealogy Roadshow had only a token amount. Could this be because autosomal testing is the focus for Ancestry.com the lead corporate sponsor for WDYTYA? Autosomal testing is great for sorting out close relationships, but it is only one tool in the kit of a well prepared genetic genealogist.
I finally gave up my old Blackberry phone that I have had for years. My wife has been through several phones since I got "Dingleberry." On Friday, October 4th, she got a new Samsung Galaxy Note 3 "phablet" –a cross between a phone and a tablet computer. I then inherited her old Samsung Galaxy S 4 phone that has been out for a few months. By so doing I joined the Android world.
The next day I learned why I needed an Android. RootsMagic whose database programs I have been using for years to store and organize my genealogy data announced they were looking for beta testers for a new Android app. This app will allow you to upload a file of your genealogy information to your phone. I immediately signed up. I now carry about 25,000 relatives around in my pocket. I also carry about 12,000 of my wife’s ancestors.
This app is a reader only. While I can view the information, I cannot edit it on my phone. While it is nice to be able to whip out my phone and look up some information, greedy me would like to be able to edit it on the fly and have it sync back to my desktop and laptop computers. Oh well, I’m sure that will be possible sometime soon.
For quite a while I have been using Dropbox to sync my desktop and my laptop. When I am at home I prefer to work on my desktop computer. When I want to sync to my laptop, I just need to make sure that I have closed all the files on my desktop and that they are saved to the Dropbox folder. Then I boot up my laptop and it immediately syncs any files I have updated or created since I last used the laptop. Not only does this keep my files in sync, it backs up my data so that I have copies in three places – in the cloud and on both of my computers.
For now I’ll have to be content just to read my genealogy information from my phone. It includes all the information including census notes and other notes on individuals. It now features pedigree, family, descendants and individual views. It is a great feature for “show and tell” to impress your friends. It is also useful to be able to lookup information on your family instantly no matter where you are and whether or not you have cell or Wi-Fi coverage and even if you are operating in that soon to be obsolete airplane mode.
There are still a few bugs in the app. The surname search feature seems to have redundant steps and sometimes causes the app to lock up. RootsMagic tech staff members have already asked for copies of my data so that they can work with it to test the search feature. I’m sure there are other bugs in it that I have not yet stumbled into. However, I’m enjoying the ability to take my family with me where ever I go.
Tuesday, September 24, 2013
Last night the Genealogy Roadshow premiered with a stop at the Belmont Mansion in Nashville.
GENEALOGY ROADSHOW is an engaging, innovative program that reveals the bigger picture of our nation’s past, present and future,” said Beth Hoppe, Chief Programming Executive and General Manager of General Audience Programming for PBS. “With a diverse mix of stories in each episode, GENEALOGY ROADSHOW appeals to Americans interested in learning about their family histories. It also shows that no matter one’s heritage and background, everyone has a place in history.
This is the first of four stops around the country. Next Monday the Genealogy Roadshow will visit Detroit. Following weeks will feature stops in Austin and San Francisco. The program airs at 9:00 PM (8:00 Central) on Monday nights on your local Public Broadcasting channel (PBS). For now only four segments have been filmed.
The the first segment was fast paced -- almost too fast at times -- so that the stories of many everyday folks could be explored in one hour. Historical background segments were interspersed. No genealogy researcher can know too much history.
If you missed the first episode or you want to view it again to soak up all the details, you currently can view it online.
Thursday, September 12, 2013
Gene by Gene, the parent company of Family Tree DNA (FTDNA) also explores health information but through other subsidiaries. This business model can give a clearer focus on two sometimes disparate customer bases. The segregation of FTDNA from the health related activities of its parent company was in part a calculated strategy to protect direct to consumer (DTC) genealogy tests from the regulation of the Food and Drug Administration (FDA). As late as a couple of years, it looked like DNA testing for genealogy might get swept up in a push to keep DTC DNA kits from being sold at Walgreens. Some of you remember the aborted attempt by Pathway Genetics to sell kits over the counter for $20 back in 2010. The analysis of your spit was to cost extra. By the time the FDA finished "‘discussing’ legal issues with Pathway Genomics", the project was shelved. These discussions included whether or not the kit should be considered a "medical device" and therefore falling within the purview of the FDA.
June 13th Myriad issued a press release with the technically correct but possibly misleading heading -- “Supreme Court Upholds Myriad's cDNA Patent Claims”. In that release Myriad stated,
BRACAnalysis testing is widely reimbursed by private insurance companies, Medicare and Medicaid. As a result of the Affordable Care Act, the vast majority of at-risk patients can receive BRACAnalysis testing with no out-of-pocket costs — meaning no co-pays or deductibles.
Somehow it doesn’t sound any better to me for Myriad’s artificially high prices to be paid for us by Medicare, Medicaid or our private insurance. Indirectly, this is paid by all of us.
Those of us who have spent considerable part so our lives on the West Coast know that when there is a large seismic event, it is followed a number of aftershocks before a new equilibrium is achieved. Such is true in the legal world as well.
All this legal wrangling is about much more than BRAC1 and BRCA2. It is about all the right to read all the medically significant information in our cells. Did you know that you may already have health information available at FTDNA also? You do if you have had the full mtDNA test. This is why, with an abundance of caution, FTDNA does not automatically disclose to project administrators the detailed results beyond the HVR1 and HVR2 levels. Although our mitochondria have not yet been determined to carry much health related information, they do give important indicator about one fairly rare condition -- aminoglycoside-induced deafness. Some widely prescribed antibiotics can cause deafness -- often permanent in patients who carry the A1555G mutation. Research studies often exclude this gene from their panels because of the patents claimed by Athena Diagnostics. This includes large scale studies to correlate patient outcomes and drug reactions such as Vanderbilt's PREDICT project in which Dr D and his wife are participants.
Recent studies in China suggest that a C1494T mutation in the mitochondrial 12S rRNA Gene also play a role in maternal inherited aminoglycoside-induced deafness and also hypertension. If you have the results of full mtDNA tests, you already have been tested for these mutations.
The future of you health and its cost may be affected by the current legal battles. I urge you to inform your self and defend your right to read your own genes at a reasonable cost. Join the Free my Genes movement!
Friday, September 6, 2013
Several indicators suggest the genetic genealogy marketplace is in a state of flux. So what else is new?
What impact will the departure of Thomas and Astrid Krahn from FTDNA have on the company’s commitment to further explore the Y-chromosome? This is a particularly interesting question at a time when FullGenomes is on the verge of having actual customer results from its pricey first round of tests of the full Y-chromosome.
After the dust clears from the separation of Anne Wojcicki from Sergey Brin, it appears likely that 23andMe will not be seriously affected. Even though it is Anne’s company, it has been Sergey’s billions and Parkinson’s gene that have been the driving forces behind this company’s growth.
DNA testing has not been incorporated into any of the first seven segments of Who Do You Think You Are? Ancestry is a principal sponsor and the company's databases are prominently featured in most episodes. If it is Ancestry’s business plan to grow the DNA side of its business, this is a strange way to go about it.
Not to be left on the sidelines, Geno 2.0 apparently is fine tuning its marketing focus. Emphasis on the sale of its public participation kits will be concentrated in the English speaking world which in general is already to most tested part of the world.
Regional commercial ventures are springing up in various parts of the UK.
All of this makes it clear that our agenda is being set by commercial entities. That’s not bad. We would be nowhere without the framework they have created. Most of us do not want it to be set by various world governments which may be the primary alternative to the free enterprise system.
Where do you want our community to go in the next decade? Probably the next six months is a more reasonable time frame for a business plan in this marketplace. Or is it? How can we as consumers, both individually and collectively, best communicate our ideas – dare I say dreams – as to where we want genetic genealogy to move next? Does ISOGG have an opportunity for a more proactive role? Are there other venues for this discussion?