Cruwys news

Mitochondrial DNA testing at a new low price

2013-05-10T23:17:00.001+01:00

Family Tree DNA have announced a new permanent low price of US $49 (about £32) for their entry-level mitochondrial DNA test. The new low pricing has been made possible thanks to a change to next generation sequencing technology, and brings the starter price for mtDNA testing in line with the new low-cost 12-marker Y-DNA that was introduced on 1st April this year. The $49 price applies to the mtDNAPlus test (HVR1 + HVR2). The basic HVR1 test, which used to be the cheapest available mtDNA test, has now been discontinued. FTDNA have also announced a temporary reduction in the price of their full sequence test which is currently on offer for just $199 or £130 (reduced from $299 or £194). Family Finder, FTDNA's autosomal DNA test, has also temporarily been reduced in price from $289 (£187) to $199 (£130). In an e-mail to group administrators FTDNA have cautioned that the "prices may go up on different tests at any time based on lab volume". Let's hope that the new low prices will attract sufficient sales to make such an increase unnecessary.

A mitochondrial DNA test will tell you about your direct maternal line (ie, your mother, your mother's mother, your mother's mother's mother, and so on back in time). The path of mtDNA transmission can be seen in this diagram on the ISOGG website. An mtDNA test can be used to find genealogical matches on the direct maternal line but also gives you a haplogroup assignment which tells you about your deep ancestry. Haplogroups are the branches of the human mtDNA tree, and the haplogroups all tend to have different geographical distribution patterns. Information on the distribution of the major European mtDNA haplogroups can be found on the Eupedia website.

The choice of mtDNA test will depend on your testing objectives. The mtDNAPlus test sequences the two hypervariable regions - HVR1 and HVR2 - where mutations are more likely to occur. There are 1,143 base pairs in the hypervariable region comprising around 6% of the mtDNA genome. The full mitochondrial sequence (FMS) test sequences all 16,569 base pairs in the mtDNA genome - HVR1, HVR2, plus the coding region where all the genes are found. With both tests your results go into FTDNA's large genealogical matching database and you will be notified of any matches at the three different levels - HVR1, HVR1+HVR2, and HVR1, HVR2 plus the coding region.

The number of matches that you can expect to have varies considerably. Some people like me have no HVR1 matches at all. At the other extreme some people, particularly in haplogroup H, the most common European haplogroup, can have over 12,000 matches at HVR1 and over 2,500 matches at the HVR1+HVR2 level. The full sequence test has only been available at an affordable price for the last few years and consequently there are currently fewer people in the database who have tested at this level. However, the matching criteria are more relaxed at the full sequence level so it is possible to have FMS matches despite having no matches at the lower resolutions. I have no HVR1 or HVR2 matches but I have two full sequence matches. Family Tree DNA have the world's largest collection of mtDNA sequences both at low resolution (HVR1 and HVR2) and at the full sequence level.¹ As of today's date FTDNA have 159,015 mtDNA records in their database, of which 24,579 are FMS tests. With the price reductions we can expect the database to grow at a rapid pace.

The full sequence test is needed for matches in a genealogical timeframe. FTDNA estimate that 90% of exact full sequence matches will fall within 16 generations (around 400 years).² However, lower resolution matches can sometimes provide clues for further genealogical research if your matches have ancestors from the same geographical area. If you start with the mtDNAPlus test you can always upgrade to the full sequence test at a later date.

For deep ancestry purposes the mtDNAPlus test will give you a base haplogroup assignment (eg, haplogroup H, haplogroup I, haplogroup U4, haplogroup U5, etc). The full sequence test will give you a more detailed haplogroup assignment with lots of extra letters and numbers after the base haplogroup. For example, I am a U4c1a and my dad is a U5a2b3. The most up-to-date version of the mtDNA tree is maintained by Phylotree. You can expect to see your haplogroup updated as new branches are discovered on the mtDNA tree. If you take the full sequence test you can also contribute your results to scientific research, and you might find that your results help to define a new branch on the tree. My own full sequence results were used in the 2012 paper by Dr Doron Behar et al which provided a major update to the mtDNA tree and introduced the concept of the Reconstructed Sapiens Reference Sequence.³

For assistance with understanding mtDNA results it's a good idea to join the relevant mtDNA haplogroup project at FTDNA. In some cases the project administrators will be able to provide you with a more detailed haplogroup assignment than that provided by FTDNA. It should be remembered that all the administrators are volunteers and some have more time than others to devote to their projects. A full list of mtDNA haplogroup projects can be found in the ISOGG Wiki.

It is astonishing to see how the cost of mtDNA testing has plummeted in the last few years. Family Tree DNA introduced the full mitochondrial sequence test (formerly known as the full genomic sequence test) in 2005 and the test was initially sold for $895 (£580). By 2009 the price had dropped to $439 (£284). Now it is possible to buy the full sequence test for roughly the same price that I paid to purchase the mtDNAPlus test in a sale back in December 2007.

FTDNA are of course not the only company offering mtDNA tests but they are now the clear market leader and offer by far the most competitive prices as well as having the advantage of the largest and most international mtDNA database. While it would be nice to support the British DNA testing companies unfortunately their prices are prohibitively expensive. Oxford Ancestors now charge £199 ($306) for a very basic HVR1 test with no facility to upgrade. BritainsDNA (which also trades as ScotlandsDNA, IrelandsDNA, and YorkshiresDNA) offer a chip-based testing service which looks at just 400 mtDNA markers from across the mtDNA genome. For a female this test costs £170 ($261). This is sufficient to give you a haplogroup assignment but the results cannot be used to check for matches and the test therefore has no genealogical utility. The BritainsDNA test is slightly better value for males as an mtDNA analysis can be purchased for £30 (446) on top of the Y-SNP test which costs £170 ($261) and analyses around 400 Y-SNPs for deep ancestry purposes. However, if you are interested in your deep ancestry the new Geno 2.0 test from the Genographic Project is a much better investment as it tests over 12,000 Y-SNPs along with over 3000 mtDNA markers at a much lower price than the BritainsDNA test. The Geno 2.0 chip also includes autosomal and X-chromosome SNPs. Geno 2.0 Y-DNA and mtDNA results can be transferred to FTDNA free of charge, where you can join the relevant haplogroup, surname and geographical projects. The 23andMe test is a good alternative to the Geno 2.0 test at a reasonable price if you just wish to know your mtDNA haplogroup, and your Y-DNA haplogroup if you are a male. The 23andMe test has the benefit of providing additional health and ancestry information. Both the Geno 2.0 test and the 23andMe test will give you reasonably detailed haplogroup assignments. Note, however, that, like the BritainsDNA test, neither the Geno 2.0 test nor the 23andMe test can be used for genealogical matching purposes on the maternal or paternal lines. For further information on the tests offered by the major genetic genealogy companies see the comparison charts in the ISOGG Wiki:

- ISOGG mtDNA testing comparison chart
- ISOGG autosomal DNA testing comparison chart.
- ISOGG Y-DNA testing comparison chart

It is certainly an exciting time to be involved in the world of DNA testing. The new low introductory prices mean that price is no longer a barrier. No doubt many new people will be added to the FTDNA database who hadn't previously considered testing. If you've not yet had your DNA tested then there is now no excuse for delaying! I will of course be delighted to welcome new members to my Devon DNA Project and my Cruse/Cruise/Crews/Cruwys DNA Project. I'm also hoping that one day someone will take an mtDNA test and will be an exact match for my rare U4c1a haplotype.

References
1. Congiu A, Anagnostou P, Milia N et al. Online databases for mtDNA and Y chromosome polymorphisms in human populations. Journal of Anthropological Sciences 2012 90; 1-15.
2. How do I tell how closely I am related to a mitochondrial DNA (mtDNA) match? FTDNA FAQ ID 2140.
3. Behar DM, Van Oven M, Rosset S et al. A “Copernican” reassessment of the human mitochondrial DNA tree from its root. American Journal of Human Genetics, Volume 90, Issue 4, 6 April 2012, Pages 675-684.

The following is the official press release from Family Tree DNA:

Family Tree DNA Offers mtDNA Test For $49
Groundbreaking low pricing made possible by cutting-edge Next Generation Sequencing technology that is dramatically driving down costs

HOUSTON, May 9, 2013 /PRNewswire/ -- FamilyTreeDNA.com, the genetic genealogy arm of Gene By Gene, Ltd., has lowered the price of its mid-level maternal line mtDNA test to $49, effective immediately. The company announced it will offer its mtDNAPlus product at a two-third price reduction permanently, in just its latest step toward universal access by individuals to their personal genetic data.

"This groundbreaking pricing illustrates how next generation sequencing (NGS) is changing the DNA testing landscape," Gene By Gene President Bennett Greenspan said. "For Family Tree DNA to be able to offer this test at such an affordable price would have been unheard of before NGS. We're hopeful that by lowering the price of products like our mtDNAPlus, we'll be able to expand the horizon of DNA testing and, importantly, grow our database to fuel future genetic discoveries."

Earlier this year, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- dropped the price of its basic Y-DNA test for males by 60 percent, in order to eliminate cost as a barrier to individuals interested in learning more about their personal genetic and genomic data.

Since then, the company has been working to do the same with its mtDNA test, which is applicable to both males and females and provides data on the direct maternal line by testing the mitochondria. The mtDNAPlus product tests Hypervariable Regions 1 and 2, or HVR1 and HVR2, providing individuals with both anthropological and genealogical information.

With the largest DNA database in the world, Family Tree DNA has processed over 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000. Data gathered from the mtDNAPlus test will be stored, free of charge, in the company's database. If customers are interested in performing any other DNA tests that the company offers in the future, they won't be required to resubmit DNA samples.

Customer Inquiries Individuals interested in Family Tree DNA's $49 mtDNA test, or any of its ancestral testing products, can visit www.familytreedna.com or call (713) 868-1438 for more information.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:
Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn
888-609-8351
croft@csirfirm.com

Tom Cruise's Irish ancestry

2013-04-09T23:05:00.001+01:00

Researchers in Ireland have been exploring the family tree of the Hollywood actor Tom Cruise. His line has been traced back to Andrew Cruise (d. 1780) who married Bridget Russell on 23rd January 1766 in Swords parish, County Dublin. The research can be found on the Eneclann website. The official press release from Tourism Ireland can be found here. Tom Cruise was in Dublin for the premiere of his new film Oblivion and he was presented with a copy of his family tree and his Certificate of Irish Heritage. You can see the video of the presentation here. My earlier blog post on the Cruise surname provides information on some of the early references to the surname in Ireland, a number of which have been used in the current research.

Citizen science discovery rewrites human Y-DNA tree

2013-03-26T16:27:00.000Z

The following press release was received from Family Tree DNA and relates to the news announced at Who Do You Think You Are? Live in February 2013 of the citizen science discovery of the new ancient root of the human Y-chromosome tree. Family Tree DNA have announced to project administrators that the 12-marker Y-DNA test will be sold at the new permanent low price of $49 (£32) with effect from 1st April 2013. The 12-marker test is currently on sale at a special low price of $39 (£26). FTDNA already have the world's largest Y-chromosome database with almost 250,000 samples from around the world. However, with a world population of over seven billion people there is still much to be learnt about our genetic heritage and we can expect many more exciting discoveries in the months and years to come as more people get their DNA tested.

Family Tree DNA's Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

-- By Offering Low Cost DNA Test, Family Tree DNA Aims to Expand Reach of DNA Testing to Encourage Further Exciting Discoveries About Human Origins --

HOUSTON, March 26, 2013 /PRNewswire/ -- Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic's Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report "An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree" in The American Journal of Human Genetics earlier this month. The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene's advisory board, and two of the company's staff scientists, Drs. Thomas and Astrid-Maria Krahn.
The DNA sample had originally been submitted to National Geographic's Genographic Project, the world's largest "citizen science" genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA's database for genealogical research. Once in Family Tree DNA's database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

"This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products," said Gene By Gene President Bennett Greenspan. "While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing. The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution."

The discovery took place at Family Tree DNA's Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project. Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company's Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations. Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

"Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago," said Dr. Michael Hammer. "Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade. This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise."

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%. By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research. They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

AncestryDNA updates

2013-03-22T18:06:00.000Z

I wrote previously of my experiences with the AncestryDNA autosomal DNA test. I covered the consent forms and the admixture analyses in my first article. In a second article I looked at the matching process. One of the big criticisms that I and many others had with regard to the AncestryDNA test was the fact that the company, unlike 23andMe and Family Tree DNA, did not allow customers access to their raw genetic data. I am now pleased to advise that Ancestry have listened to the feedback and have finally made the raw data accessible.

The data can be accessed by logging into your AncestryDNA account and clicking on "Manage Test Settings". Before downloading the data it is necessary to re-enter your password. There are notices to advise that the downloaded data is subject to the AncestryDNA Terms and Conditions and the AncestryDNA Privacy Statement. The Terms and Conditions were revised on 20th March 2013 and now include what appears to be a new section laying out the Rules of Conduct. These state among other things that "You must also agree that you will provide valid and complete contact information, and that you will always have a valid email address on file with AncestryDNA." In addition the rules include the following somewhat puzzling condition: "You must not use the information from the AncestryDNA website or DNA tests (including any downloaded raw DNA data) in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions)."

The Rules of Conduct conclude with the following paragraph: "These Rules of Conduct are not exclusive. If we believe, in our sole discretion, that you are in breach of this Agreement, are acting inconsistently with the letter or spirit of this Agreement or otherwise interfering with the efficient management or delivery of the AncestryDNA Website, Service or Content, we may limit, suspend or terminate your access to our AncestryDNA Website. In such a case, no portion of your subscription payment will be refunded. Should we decide to suspend or terminate your access for any reason other than your actions or omissions which we believe to be inconsistent with this Agreement we will refund to you any unused portion of your payment, which will be your sole and exclusive remedy upon such a suspension."

I am not at all clear how someone can use their own genetic data in any type of illegal activity and it seems to me that it is entirely my business what I do with my own genetic data and has nothing to do with AncestryDNA at all. The requirement to maintain a valid e-mail address is of some concern as this rather suggests that any account that does not have a valid e-mail address will be excluded from the AncestryDNA database. Inevitably subscriptions will lapse over time. People become ill and are no longer able to continue their family history research or they die and their account is not passed on to a relative. Does this mean that all these results will be removed from AncestryDNA because the accounts no longer comply with the Rules of Conduct?

The AncestryDNA Privacy Statement has been similarly updated with effect from 20th March 2013. Interestingly I note that Ancestry have now signed up to the Safe Harbor program which relates to the "collection, use and retention of personal data from European Union member countries and Switzerland". Does this mean that Ancestry are gearing up to make their test available in Europe? In section 3 "How does AncestryDNA use your personal information?" there is what appears to be a new addition and by testing with Ancestry you are now giving them permission to use "your personal information" to "research human genetic diversity". From what I can gather this permission applies even if you have, like me, not signed the separate AncestryDNA Consent Form.

Having gone through the instructions on the AncestryDNA website you are sent an e-mail to confirm the download. The e-mail is reproduced below.

Having confirmed the data download you are taken back to the AncestryDNA website and taken to a page where you can download the raw data. I have provided a screenshot below.

The data is downloaded as a zip file and when the file is unzipped it opens up in Notepad. The many citizen scientists in the genetic genealogy world are currently trying to examine and make sense of the raw data. It is likely that third party websites such as Gedmatch will provide a facility to upload AncestryDNA data. Support will no doubt also be provided for the other third-party tools which are listed on the autosomal DNA tools page in the ISOGG Wiki.

Interestingly, although Ancestry do not provide information on the X-chromosome and Y-chromosome SNPs on their chip or use these results for matching purposes, the raw data is included in the download file so by downloading the data it will be possible to get more value out of the test. It is not yet known which Y-SNPs are included on the chip but this information could potentially be of great value for anyone who has taken a Y-STR test and who wishes to learn more about their deep ancestry by participating in a Y-DNA haplogroup project.

Another big announcement about the AncestryDNA testing service was made today at Roostech by Tim Sullivan, Ancestry's President and Chief Executive Officer. He advised that the the Ancestry DNA is now available at the new low price of $99 to both subscribers and non-subscribers. The test was originally offered at $99 in the beta-testing period. The price was subsequently raised to $199 for non-subscribers and $129 for subscribers. The latest reduction means that the AncestryDNA test is now the same price as the 23andMe test. However, the 23andMe test provides many additional features, including health and trait information, which are not available from Ancestry. Tim Sullivan also announced that Ancestry have over 120,000 autosomal results in their database. He promised that improved ethnicity results and improved cousin matches are on the way but no specifics were given.

Note that the AncestryDNA test is only available to US residents. Although I live in the UK, for some reason I was able to order the AncestryDNA test during the beta-testing phase, but I am one of only a tiny handful of non-US people in their database at present. It is not yet known when or if Ancestry will make their test available in other countries. For those of us who do not live in the US there is a straightforward choice between 23andMe and FTDNA's Family Finder test. Currently the most cost-effective way to get your results in both databases is to test with 23andMe and then transfer your results to FTDNA.

Family Tree DNA's Family Finder test is now much more expensive at $289 than the comparative offerings from 23andMe and AncestryDNA. The US is the prime market for all three companies. It will, therefore, be interesting to see how FTDNA respond to the competition. At the very least, it would be very useful if FTDNA could follow Ancestry's example and allow their customers access to their raw Y-SNP data. In theory FTDNA should be able to add AncestryDNA to their third-party transfer program, but the transfer currently costs $89, which is only $10 short of the cost of the 23andMe and AncestryDNA tests. Will FTDNA reduce the cost of the transfer to encourage more people to transfer their results and to widen their database? Whatever happens the competition will be very beneficial for the genetic genealogy community and we can no doubt look forward to many exciting developments in the next few years.

*Update 23rd March 2013*
I've now transferred my raw data from AncestryDNA into a spreadsheet. The file header contains the following information:

AncestryDNA raw data download
This file was generated by AncestryDNA at: 03/22/2013 10:39:55 MDT
Data was collected using AncestryDNA array version: V1.0
Data is formatted using AncestryDNA converter version: V1.0
Below is a text version of your DNA file from Ancestry.com DNA, LLC. THIS INFORMATION IS FOR YOUR PERSONAL USE AND IS INTENDED FOR GENEALOGICAL RESEARCH ONLY. IT IS NOT INTENDED FOR MEDICAL OR HEALTH PURPOSES. THE EXPORTED DATA IS SUBJECT TO THE AncestryDNA TERMS AND CONDITIONS, BUT PLEASE BE AWARE THAT THE DOWNLOADED DATA WILL NO LONGER BE PROTECTED BY OUR SECURITY MEASURES.

Genetic data is provided below as five TAB delimited columns. Each line corresponds to a SNP. Column one provides the SNP identifier (rsID where possible). Columns two and three contain the chromosome and basepair position of the SNP using human reference build 37.1 coordinates. Columns four and five contain the two alleles observed at this SNP (genotype). The genotype is reported on the forward (+) strand with respect to the human reference.

My AncestryDNA raw date file contains information on 701,478 SNPs divided into 25 chromosomes. I have data for:

- 17604 SNPs on chromosome 23
- 885 SNPs on chromosome 24
- 440 SNPs on chromosome 25

We of course only have 23 pairs of chromosomes. Ann Turner has clarified on the Genealogy DNA list that chromosome 23 is the X chromosome, chromosome 24 is the Y-chromosome, and chromosome 25 "is for XY SNPs, where the SNP is also found on the pseudo-autosomal regions (PAR) at the tips of the Y". As a female I do not have a Y-chromosome and most of my results for the Y are no calls (zeros). However, I do have results reported for 93 Y-SNPs. Apparently this is something to be expected for reasons which are not yet clear to me.

CeCe Moore was one of a number of genetic genealogists who had a meeting with the AncestryDNA people at Rootstech and she has advised on the Genealogy DNA list that Ancestry are working on a search function filtered by surname or user name. She further advises that Family Tree DNA are hoping to accept AncestryDNA uploads from the beginning of May and that Gedmatch will be able to accept AncestryDNA uploads in a couple of weeks.

*Update 24th March*
AncestryDNA have now added a section on raw data downloads to their FAQs which can be read here. Ancestry seem to be overly concerned about their customers misusing their data in some unforeseen way and provide a number of cautionary warnings about using your data on third-party websites.

*Update 25th March*
For a detailed report on AncestryDNA's plans see CeCe Moore's blog post on "AncestryDNA, Raw Data and Rootstech".

© 2013 Debbie Kennett

Sense About Genealogical DNA Testing

2013-03-15T15:52:00.002Z

I wrote last week about the new report from Sense About Science on the subject of Sense About Genetic Ancestry Testing. While I welcomed the publication of this report I was concerned at some of the inaccurate media coverage it generated which gave the false impression that all genetic ancestry testing is "meaningless". The report made it quite clear that DNA testing can be legitimately used for genealogical purposes, but this aspect was overlooked in some of the newspaper articles who quoted from the report out of context. I was very pleased, therefore, that Sense About Science invited me to write a guest blog post for them to help set the record straight. The post, entitled Sense About Genealogical DNA testing, is now live on the Sense About Science website. I am very grateful to all the geneticists and genetic genealogists who provided useful feedback which resulted in a much better article than I would ever have written on my own.

Sense About Genetic Ancestry Testing

2013-03-08T21:43:00.000Z

The UK press has been flooded in the last year or so with stories about a number of people, including a few celebrities, who who have had their DNA tested and who have been told extraordinary stories about their ancestry. The Guardian reported that the actor Tom Conti is directly related to Napoleon Bonaparte. The Scottish comedian Fred MacAulay was told on BBC Radio Scotland that his dad's Y-chromosome DNA "put him in south-west Ireland as part of the descent of Irish kings who were captured by Vikings and then sold in the slave market taking him up to the Hebrides". The Daily Mail revealed that a Scottish pensioner by the name of Ian Kinnaird learnt from his mitochondrial DNA test that he is "the grandfather of everyone in Britain". While the BBC and the national press have uncritically lapped up these stories and published them without question unfortunately they contain many errors and exaggerations.

As genetic genealogists we normally use DNA as a tool to help with our genealogical research. However, DNA testing can also provide some insight into one's deep ancestry. A man can take a Y-chromosome DNA test to explore his ancestry on the direct paternal line. Both men and women can take a mitochondrial DNA test to explore their ancestry on the direct maternal line. When you receive your Y-DNA or mtDNA results you are given a haplogroup assignment. The haplogroup represents your branch on the human Y-DNA or mtDNA family tree. Haplogroups are defined by markers known as SNPs (single-nucleotide polymorphisms) - small changes in the letters of the DNA alphabet. The Y-DNA tree is maintained by ISOGG - the International Society of Genetic Genealogy - and can be found here. The mitochondrial DNA tree is maintained by Mannis van Oven from the University Medical Center in Rotterdam in the Netherlands and can be found on the Phylotree website.

Haplogroups do tend to cluster in specific geographical regions and attempts can be made to explore the origins of these haplogroups by looking at their distribution and diversity in present-day populations, but there are inherent biases in the available databases, nowhere enough samples have been obtained and sometimes the conclusions drawn are highly speculative. Nevertheless many scientific papers have been published in peer-reviewed scientific journals on the origins of the different haplogroups, but with the discovery of more new markers on an almost daily basis these studies can often become out of date almost as soon as they are published. It can, of course, be fun to see who else shares your haplogroup. There is a page on Wikipedia which provides a list of the haplogroups of historical and famous figures, and there is also a famous DNA page on the ISOGG website. However, the markers that define these haplogroups often arose many thousands of years ago so it is therefore somewhat meaningless to declare, for example, that Tom Conti is directly related to Napoleon when they only share a common ancestor from several thousand years ago on their direct paternal line and they share that ancestor in common with thousands of other men in the same haplogroup. A DNA test cannot tell you that you are descended from a slave who was captured by the Vikings, and it is quite preposterous to tell someone that he is the ''grandfather of everyone in Britain" for many reasons not the least of which is that this ridiculous claim was based on a mitochondrial DNA test and males cannot pass on mtDNA to their children!

To counter some of these outlandish claims and to help the public to understand the issues involved the charity Sense About Science has produced a very useful new booklet entitled Sense About Genetic Ancestry Testing which can be downloaded from their website. The booklet has been written by a number of distinguished geneticists and explains very clearly the problems of assigning ancestry from a DNA test. Unfortunately some of the reports in the newspapers and online have commented on the publication of this booklet and given the story a somewhat misleading slant. The Telegraph has, for example, declared that "DNA tests [are] branded 'meaningless'" while the BBC more cautiously warns that "Some DNA ancestry services [are] akin to 'genetic astrology'". It is important to note that these headlines apply only to certain deep ancestry tests and not to the tests that we use for our genealogical research. As the Sense About Science authors note in their report:

"There are credible ways to use the genetic data from mtDNA or Y chromosomes in individual ancestry testing, such as to supplement independent, historical studies of genealogy. If, for example, two men have identified – through historical research, possibly involving surnames – a common maleline ancestor in the sixteenth century, it would be reasonable to use their Y chromosome data to test this. There are some ancestry testing companies that offer this service."

I hope that lessons will have been learnt as a result of the Sense About Science publication and that the hyperbole of recent months will not be repeated. It is perhaps too much to hope that the press will take a more responsible attitude and will only publish stories based on scientific research published in peer-reviewed scientific journals rather than rehashing sensational stories from press releases submitted by PR companies as publicity stunts. In the meantime I would urge everyone to heed the words of Professor David Balding on the Sense About Science website: "Be wary of news items about genetic history - that someone famous is related to the Queen of Sheba or a Roman soldier. Often these come from PR material provided by genetic testing companies and can be trivial, exaggerated or just plain wrong."

If you wish to get your DNA tested either for genealogical purposes or to explore your deep ancestry there are a range of companies to choose from. The ISOGG Wiki has many valuable resources including a number of charts comparing the offerings of the various testing companies. Whatever your reason for taking a DNA test you will get the best value for your money if you choose a company which provides a genealogical matching database where you can contact your matches and get involved in projects. The two companies that I recommend are Family Tree DNA and 23andMe. Family Tree DNA host all of my DNA projects. They offer the widest range of tests and have by far the largest genetic genealogy database. They have over 7300 surname projects, a large number of geographical projects as well as projects for all the Y-DNA and mtDNA haplogroups. The 23andMe test is essentially a health and traits test but it also provides haplogroup assignments and it includes a cousin-matching service, known as Relative Finder, based on autosomal DNA. If you are interested in the 23andMe test you can read my reviews here.

WDYTYA Live Day 3 Part 2: The new ancient root of the Y-tree

2013-03-08T00:22:00.001Z

Sunday is always the quietest day at WDYTYA and in a lull at the end of the day I took the opportunity to listen to a fascinating talk by Dr Michael Hammer from the University of Arizona on "DNA and our ancestral origins". The talk began with an explanation of the two different models of human evolution - the Out of Africa replacement model and the multiregional model. Hammer discussed the important work of Svaante Pääbo from the Max Planck Institute who has sequenced the Neanderthal and Denisovan genomes. All non-Africans carry traces of Neanderthal DNA. Small percentages of Denisovan DNA are found today only in populations in Melanesia. I have been surprised to see that most of the people who have taken the new Geno 2.0 test from the Genographic Project have reported receiving small percentages of Denisovan DNA, despite having ancestors who lived in Europe and not Melanesia. These figures can be seen in this thread on the Genealogy DNA mailing list. I asked Michael Hammer why this should be the case, and he suggested that these results must surely be in error. It is very difficult to detect introgression and the DNA that is being assigned as Denisovan is probably ancient DNA indicative of ancient shared ancestry between humans, Denisovans and Neanderthals rather than genuine Denisovan DNA. The X-chromosome provides further insight into our ancient origins and intriguingly a haplotree constructed from part of the X-chromosome shows that the most recent common ancestor on our X-chromosome line traces back not to Africa but to Asia, and the TMRCA (time to the most recent common ancestor) is around two million years ago.

However, for genetic genealogists by far the most exciting part of Michael Hammer's talk was the story of the discovery of the new ancient root of the human Y-chromosome tree, which had first been announced to a select audience at the Family Tree DNA group administrators' conference in November 2012. The most extraordinary part of the story is that it was a citizen science discovery. An African American gentleman in South Carolina submitted a sample of his DNA to National Geographic's Genographic Project. He subsequently transferred his Y-DNA results to Family Tree DNA where he joined the haplogroup A project. Bonnie Schrack, the very astute administrator of the haplogroup A project, noticed that FTDNA had not been able to assign a haplogroup to the sample. She decided to take matters into her own hands and raised some money so that the Y-chromosome could be sequenced as part of the Walk through the Y programme run by Thomas Krahn, FTDNA's chief Y-chromosome scientist. It proved impossible to place the sequence on the Y-tree as all the SNP markers were ancestral, but there were also many new SNPs found in the sample. The challenge was then to determine precisely where the sample belonged on the tree as it fell outside the range of all known Y-chromosome lineages. Additional sequencing was done on chimps and gorillas for comparison purposes, and it was eventually determined that the sequence defined a new root of the Y-tree dating back around 338,000 years before present. The new root was given the name of haplogroup A00 leaving room for the possibility that additional divergent lineages might one day be discovered and it would then be a simple matter of adding additional zeros.

The research was published on 28th February in the American Journal of Human Genetics in an article entitled An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree. The official press release from the University of Arizona can be read here. CeCe Moore, who attended the FTDNA conference, provides further details on her blog. The paper concludes with the following sentence: "Finally, the discovery of the A00 lineage demonstrates the power of public participation in the scientific process — a venture that is likely to continue in the current era of personal genomics." We have only captured a tiny fraction of the genetic diversity of the world at present. I wonder how many more exciting discoveries are waiting to be made as more people start to get their DNA tested and as more samples are tested from around the world and particularly in Africa. We can also expect many of these discoveries to be made by citizen scientists working as volunteer project administrators at commercial genetic genealogy testing companies.

There was so much going on at WDYTYA that unfortunately I did not have time to visit all the stands. I had wanted to ask Ancestry if they had any plans to launch their autosomal DNA test outside the US. Luckily David Hollister, a fellow member of the Guild of One-Name Studies, was able to have a word with them. He reported that they are not yet ready to launch their test outside the US for the following reasons:

- Complicated EEC Regulations.
- Probably not enough profit in it.
- Labs are too busy

David subsequently made further enquiries with Ancestry and was told by Karen Richardson, their Senior Manager for Community Marketing, that there is no definitive answer on the launch of the DNA test in the UK though "there is the hope that it might be in 2014, but we can't guarantee that".

The day ended at 4.30 pm, and it was then time to pack up the stands and head home. Max Blankfeld, FTDNA's Vice President of Marketing, had two enormous bags full of DNA swabs to take back with him to Houston, Texas. The company sold a record number of kits at WDYTYA this year. These samples are now starting to be processed. I have already had two new people join my Devon DNA Project who tested at WDYTYA, and I shall look forward to receiving their results in the next couple of months.

See also
- Who Do You Think You Are? Live 2013 Days 1 and 2
- Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history

Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history

2013-03-01T23:45:00.000Z

On Sunday I arrived early at Olympia and in the quiet time before the doors opened to the public I managed to call in at the stand of the History Press, who are the publishers of my two books. They told me that they had already sold all their copies of DNA and Social Networking and that they only had four copies left of my Surnames Handbook. Fortunately the Guild of One-Name Studies still had a few copies left on their stall so I hope no one was disappointed. I picked up from the History Press stand a copy of the book by John Ashdown Hill entitled The Last Days of Richard III and the Fate of His DNA: The Book that Inspired the Dig. In this book the author describes the detailed research he carried out on the family tree of Richard III in the search for a female line descendant of one of Richard's siblings who would be a candidate for mitochondrial DNA testing.

I was very pleased to see Family Historian exhibiting at WDYTYA for the first time this year. I use this excellent software for my own family history research and it has now developed a very loyal and dedicated user base. I had a brief chat with Jackie Depelle who was helping on the Family Historian stand. Jackie is a fellow member of the Guild of One-Name Studies. She teaches family history classes in Yorkshire and also teaches courses on the use of the software. Jackie told me that there had been a lot of interest in Family Historian, and that many others users had also come to the stand to say hello.

Sunday is traditionally the quietest day at WDYTYA, but my talk in the morning was again packed out with people having to stand at the back. All the volunteers on the Family Tree DNA and ISOGG stands were kept busy throughout the day explaining to people how DNA testing works and selling many more kits.

At lunchtime I attended the talk by Alistair Moffat on "How DNA is rewriting British history". The research had been heralded in a story in the Daily Telegraph on the previous Friday entitled One million Brits 'descended from Romans' with a promise that the figures behind the study would be announced by Alistair Moffat at Who Do You Think You Are? Unfortunately the talk was a big disappointment. Alistair Moffat did not use any slides and read his lecture from a script. He started with a brief explanation of the Y-chromosome and mitochondrial DNA markers which are used in deep ancestry studies. He did not say so but these markers are technically known as SNPs (pronounced "snips") which is short for single-nucleotide polymorphisms. Moffat explained that he would provide one detailed example in his lecture to explain how DNA is helping to rewrite British history and made the surprise announcement that his company BritainsDNA has found the lost Roman legions. The historians and scientists at BritainsDNA have supposedly discovered through DNA testing that around one million men in Britain can claim to be the direct descendants in the male line of the Roman legions. Unfortunately, he failed to provide any scientific evidence to back up these extraordinary claims.

The bulk of the talk consisted of a lesson on Roman history and the Roman occupation of Britain. Moffat estimates that there were perhaps two million people living in England and Wales when the Romans invaded. He speculated that around 40,000 Roman soldiers and cavalrymen were stationed in Britain. It seems reasonable to suppose that the Y-chromosome of some of these Roman soldiers and cavalrymen has survived in the Y-chromosome DNA of living male-line descendants but proving this link is a somewhat different matter. Moffat stated that before the middle of the second century AD recruitment to the Roman army was restricted to men who were Roman citizens and who were therefore Italians or of Italian descent. He suggested that a comparison between Italian Y-chromosome DNA and British Y-chromosome DNA might show up something of the genetic legacy of the Roman legions. As Ireland was never conquered by the Romans and the south of Scotland was only occupied for a short time Roman DNA ought be present in England and Wales, absent in Ireland and should occur only at low frequencies in Scotland. As he rightly pointed out, there are many caveats to this argument. DNA often arrived in Italy from elsewhere, and of course the Roman Army did not consist entirely of Italians. He cited the example of the Sarmatian cavalry who were from what is now Romania and who were stationed at Ribchester Fort in Lancashire. (I may have misheard at this point because the Wikipedia article on the Sarmatians suggest that they are from Iran and not Romania.)

No details were given on how many DNA samples were used in the study in Britain and Italy. BritainsDNA is a commercial DNA testing company and is reliant on customers paying money to order a DNA test. It is therefore very important to ensure that the samples used are from a random selection of the population. No details were given as to how the samples were randomised to take into account biases in the customer base. The conclusion that around one million British men are descended from the lost Roman legions was based purely on the finding of five of the rarer haplogroups in the samples studied. The five haplogroups that supposedly represent the Roman legions are given below. I have used the marker names given by Moffat but have provided in square brackets the haplogroup names based on the current ISOGG Y-SNP tree and the alternative SNP names where a more familiar name is normally used as BritainsDNA has its own proprietary naming system for some SNPs.

The first haplogroup associated by Moffat with Roman ancestry is R1b-S28 [R1b-U152 or haplogroup R1b1a2a1a1b2]. According to Moffat this marker is known as the Alpine marker. It occurs at a frequency of 13% in Italy, 6.5% in England and Wales, 4.3% in Scotland and 1.8% in Ireland. At this point Moffat's evidence was somewhat contradictory as he told us that this marker almost certainly arrived in Britain around 3000 BC and that it might have been the marker of the Amesbury Archer. However, he then suggested that this marker is also a candidate for Roman ancestry because of its high frequency in Italy, its presence in England and Wales and its lower frequency or complete absence in areas that were not occupied by the Romans or only briefly occupied. He did not explain how it was possible to differentiate between indigeneous U152 and U152 supposedly brought to England by the Romans. Nevertheless, extrapolating from figures from the 2011 census, he went on to estimate that 1.6 million British men are U152/S28. I missed the next point but there was an additional calculation which substantially reduced the original estimate to produce the claim that half a million men in England and Wales are descended from Roman soldiers simply because they are U152/S28.

Moffat went on to claim that four additional Y-chromosome DNA markers arrived with the Romans. These are:

1) E-V13 [haplogroup E1b1b1a1b - known by BritainsDNA as the "Balkan group"]

2) G-S314 [G-M201 is haplogroup G and is known by BritainsDNA as "Ancient Caucasian"]

3) J-M172 [haplogroup J2 known by BritainsDNA as the "Herdsman Farmers"]. Moffat claimed that a subgroup of J-M172, known as J-M67 [haplogroup J2a1b] is particularly Italian.

4) R1b-M269* [this group is known by BritainsDNA as the "Anatolian group". The asterisk normally denotes that someone has tested negative for all downstream M269 markers. There are now numerous R1b subclades but the full list of markers tested by BritainsDNA is not known.]

These four haplogroups are supposed to add another 2.3 million Englishmen and Welshmen who can trace their Y-chromosome lines to the Romans. For some reason which I did not understand Moffat than took other factors into account and reduced the numbers to produce a total of one million English and Welsh men in his study who supposedly have Roman ancestry, corresponding with the headline figure cited in the Daily Telegraph article. Unfortunately no explanation was given as to why these four haplogroups in particular should be associated with Roman ancestry. All the base haplogroups are very widespread and it's only when you drill right down to the more recent subclades that you start to see more refined geographical distributions. Haplogroup G, for example, is found throughout Europe but is also found in parts of Asia and Africa. The haplogroup G project at Family Tree DNA has a huge collection of around 3000 haplogroup G samples from all over the world which have been placed in sub-groups based on advanced SNP testing. Some of these subgroups have only been found in specific countries or regions such as Spain, Turkey or the Middle East, but the numbers tested within each subgroup are still relatively small and it is far too early to draw any conclusions. Numerous scientific papers have been written on haplogroup G and its subclades, often coming to very different conclusions. Many of these scientific papers are linked in the haplogroup G article on Wikipedia. Without doing additional SNP testing to define the subclades and without the aid of Y-STR markers to predict the subclade it would seem impossible to conclude that the presence of haplogroup G on its own is a sign of Roman ancestry. Even then, other evidence would need to be taken into account such as the archaeological evidence and ancient DNA analysis. Furthermore, present-day Italians belong to a wide variety of haplogroups, most of which are also found in the British Isles. A quick glance at the results of the large Italy DNA Project at Family Tree DNA gives a rough idea of the present-day haplogroup distribution in Italy. No reason was given as to why a few haplogroups were selected seemingly at random from the wide range of haplogroups found in Italy today to represent Roman ancestry.

After the announcement of the five markers that are supposedly associated with the lost Roman legions there then followed a brief discussion about a new marker by the name of R1b-S190 [haplogroup R1b1a2a1a1b3a7d1] which was discovered by Dr Jim Wilson in 2012. This marker is apparently found in about 1% of Scottish men and is particularly prevalent in just a few parts of Scotland. It is also found at low frequencies in Ireland. According to Moffat this marker is associated with descent from the Maeatae, though this claim was based purely on the evidence of the present-day distribution in Scotland in an undisclosed number of samples.

DNA testing is a very effective tool for family history when used in conjunction with the traditional documentary research. However, at the deep ancestry level there are inherent problems in associating particular types of DNA with Roman legions, the Vikings, the Celts, the Normans, the Maeatae or any other ethnic group. The problems are well described in an excellent article "To claim someone has 'Viking ancestors' is no better than astrology" written by Mark Thomas, Professor of Evolutionary Genetics at University College London, for The Guardian. As Professor Thomas notes, it is important that scientific research is published in peer-reviewed scientific journals. The system is not perfect but it does at least ensure that basic standards are followed and it lends a degree of credibility to the research. The Sense About Science website has a very useful new booklet entitled Peer Review Matters to the Public, which explains why the peer review process is so important, and I recommend that anyone wishing to know more about the subject should read this booklet.

Unfortunately in the case of this Roman research it appears that it is not to be published in a scientific journal but will instead bypass the usual peer review process and will be published in a new book written by Alistair Moffat and his business partner Dr James Wilson entitled The British: A Genetic Journey which is due out in September. It therefore looks as though we will have to wait for publication of the book to find out more about the sampling process and how these conclusions have been reached.

The next lecture I attended on Sunday was a fascinating talk by Dr Michael Hammer on "DNA and our ancestral origins" which included news on an amazing citizen science discovery. Michael Hammer is the Associate Professor and Research Scientist at the Hammer Lab at the University of Arizona and Family Tree DNA's Chief Scientist. I shall write about his lecture in my next blog post.

Further information
For details on the Y-chromosome DNA tests offered by the various DNA testing companies see the Y-DNA testing comparison chart in the ISOGG Wiki. Note that for genealogical matching purposes it is necessary to order from a company which tests Y-STR markers. Y-SNP markers can only be used for deep ancestry purposes.

See also
- Who Do You Think You Are? Live 2013 Days 1 and 2
- Who Do You Think You Are? Live Day 3 Part 2: The new ancient root of the Y-tree

© 2013 Debbie Kennett

Who Do You Think You Are? Live 2013 Days 1 and 2

2013-03-01T01:24:00.001Z

Who Do You Think You Are? Live, the large family history show held every year over three days at Olympia in London, is now firmly established as the most important event in the genealogical calendar in the UK. I have been to all the shows except for the very first one in 2007 and it has been interesting to see how WDYTYA has evolved over the years. One of the biggest changes has been the increase in the number of overseas visitors, and many of these overseas visitors have come to WDYTYA because of a growing interest in DNA testing. The DNA workshop, sponsored by Family Tree DNA, has been a regular feature of WDYTYA since 2009. A number of dedicated volunteer FTDNA project administrators in America have paid their own air fares and hotel accommodation to attend WDYTYA each year to help out on the Family Tree DNA stand and to educate the British public about DNA testing. ISOGG - the International Society of Genetic Genealogy - has had a presence at WDYTYA since 2010 thanks to the initiative of Brian Swann, the Regional Co-ordinator for England and Wales. The ISOGG stand is manned by volunteers from both England and America, and I have been involved with the ISOGG stand from the beginning.

This year we had a record number of DNA visitors from overseas. I was very pleased to be reunited again with my DNA friends from America: Emily Aulicino, Katherine Borges, Candy Campise, Linda Magellan, Derrell Oakley Teat, Craig Trout, George Valko and Cynthia Wells, all of whom very kindly gave up their free time to help to promote DNA testing by helping out on the ISOGG and FTDNA stands. This year I was delighted to make the acquaintance of five new DNA visitors from the US: Dick Kenyon, Charles Moore, Nora Probasco, Barbara Rae-Venter and Jennifer Zinck. I was particularly honoured to have the opportunity to get to know Charles Moore, who is held in high regard in the world of genetic genealogy. Charles is one of the content experts for the ISOGG Y-SNP tree and is renowned for his work on the haplogroup R1b-U106 project. U106 is the subclade to which my dad belongs, so Charles's work is of particular interest to me. Charles is a wizard with spreadsheets and has the ability to spot patterns in Y-STR markers in order to predict the most downstream subclade. Project members can then order individual SNPs à la carte from Family Tree DNA rather than ordering a more expensive Geno 2.0 test. ISOGG in England was represented by project administrators John and Ann Blair, Sue Curd, Maurice Gleeson and Brian Swann. Chris Pomery, Family Tree DNA's representative in England, was also attending the show and helping out on the FTDNA stand.

I managed to have a very quick chat with Gail Riddell from New Zealand, who runs the New Zealand DNA Project, and project administrator Susan Hedeen from America. I briefly said hello to Carolyn Dyess Bales, one of my friends in the US from the Guild of One-Name Studies, who was attending WDYTYA with her cousin Cammie Dyess Mercer. This was her first trip outside the US, and she had to buy a passport especially for the trip! Another Guild member, Elizabeth Kipp from Canada, was attending with her husband Ed, but in the rush I never managed to meet up with her.

DNA testing has been very much in the news in the last few weeks with the worldwide publicity generated by Richard III. Most conveniently the BBC put out a two-part documentary entitled Meet the Izzards on the Wednesday and Thursday before WDYTYA in which the comedian Eddie Izzard traced the migration of his ancestors out of Africa and into Europe. The combination of Richard III and Meet the Izzards generated a huge amount of interest in DNA testing at this year's WDYTYA and we were all rushed off our feet for the entire three days. Family Tree DNA brought more than double the usual number of kits and sold a record number of tests this year. Some of the tests were on sale at a special show price. The 12-marker Y-DNA test was on sale for just £30. The headline price helped to draw in lots of visitors to the stand but most people chose to opt instead for the 37-marker test at the special show price of £85, though I understand that quite a few 12-marker kits were sold on the Sunday. I would have liked to have taken some photos of the ISOGG and FTDNA stands with all the crowds but I was busy non-stop throughout the show and hardly had the chance to take any photos. I only had a break when I sat down to listen to some of the talks. The FTDNA stand had two large tables with five chairs arranged in front of the stand where people could sit down, place their orders and get swabbed. Those five chairs were occupied almost continuously throughout the three days. There were still people turning up to be tested after the show had officially ended each day. Nora Probasco and I were operating a triage system by talking to the people who were waiting and making sure they understood what the tests were all about and establishing whether or not they wished to place an order. This meant that by the time they got to sit down at the tables they were ready to be swabbed. At some times it got so busy that people had to be taken to the nearby cafe area to place their orders and get the swabbing done.

Max Blankfeld, Family Tree DNA's Vice President of Marketing and Operations, was on his own this year as Bennett Greenspan, the President and CEO of FTDNA, was unable to attend. Max was very grateful for the assistance from all the volunteer project administrators who helped out on the stand. It would have been impossible for FTDNA to attend the show without the help of all the many volunteers who so freely gave of their time.

I was presenting a talk in the DNA workshop at WDYTYA this year for the first time. The subject of my presentation was "DNA for beginners: the different tests". All the seats were taken for my talk on each of the three days and there were people standing four or five deep at the back of the workshop area trying to listen in.

I understand FTDNA had a surge in sales after my talk so I must have been doing something right! I had some very nice positive feedback from one of my Twitter followers Maggie who had attended my talk and then wrote up her experiences in a blog post. I was very pleased to learn that mine was the "most illuminating" of all the presentations she had attended. Most of the talks on Friday and Saturday were similarly packed out with people having to stand at the back, but Sunday was much quieter.

On Friday night the DNA project administrators got together for an enjoyable meal at Pizza Express.

On Saturday I arrived extra early, taking full advantage of my ISOGG exhibitor's pass which allowed me to get into Olympia before the doors opened to the public, to ensure that I got a ticket for Turi King's talk on Richard III. I was not disappointed. She gave a very interesting and entertaining talk. The original aim of the project was to locate the church of the Greyfriars. No one had ever expected to find Richard III and Richard Buckley, the lead archaeologist from the University of Leicester, had famously promised to eat his hat if Richard III were found. The team held him to his word but fortunately for him had a special hat-shaped cake made up specially for him to eat! Turi King explained the painstaking process of testing ancient DNA specimens. The samples have to be tested independently in two separate labs. She did some of the ancient DNA testing in the lab of Professor Michael Hofreiter at the University of York. She then replicated the tests in the lab of Patricia Balaresque at the Université Paul Sabatier in Toulouse. This of course meant a trip across the Channel and Turi described how she had to negotiate customs with Richard III's tooth, terrified that customs would want to open up the package for inspection, thus contaminating the sample and making the whole process worthless. The return journey was even more nail-biting as in order to extract the DNA the tooth had to be ground down into a fine white powder which was guaranteed to raise alarm bells with customs officers! Fortunately she got through customs unscathed, helped by official letters from the University of Leicester. The results of the ancient DNA analysis were only received on the weekend before the press conference. Turi described the moment that the results came through and she saw that there was a match. She went silent for a minute and then did a little dance around the lab!

The ancient DNA analysis will now continue. The next step will be to see if it is possible to extract some Y-chromosome DNA from the remains to compare against the Y-DNA samples obtained from living descendants of Henry Somerset, the 5th Duke of Beaufort, who should share the same Y-DNA signature as Richard III. Turi King is not able to release the details of the Y-chromosome haplogroup of the Beaufort lineage at present. The University has an agreement with Nature and it is planned to publish two papers back to back. Full details of the DNA analysis and the haplogroups will then be given. According to the terms of the agreement the papers have to be submitted to Nature within the next year, though they will of course still have to go through the usual peer-review process.

After Turi King's talk I rushed back to the DNA area to catch the presentation by Bruce Winney on the People of the British Isles Project. The project has now collected 4,300 samples from people in the British Isles with four grandparents born in the same rural county. The researchers have genotyped 2,800 of these samples across 600,000 SNP markers. Strong regional variations have been found with, for example, the people of Devon and Cornwall, forming distinct clusters. The samples have also been compared with samples from Europe in order to identify the source of the structure seen in the UK.

A scientific paper is in preparation which will be submitted to Nature, but it will still be a few more months before the paper is ready to be submitted. Once the paper has been published everyone will have the opportunity to examine the stunning maps that were shown to us at Olympia. Little progress seems to have been made on the analysis of the Y-chromosome and mitochondrial DNA data. I also asked about the X-chromosome data but no one has as yet considered analysing that data.

On Saturday I was briefly able to say hello to my friend Princess Maria Sviatopolk-Mirski though she unfortunately arrived at the stand during one of our busiest spells. I was also very pleased to have the opportunity to meet Andrew Millard, a friend from the Guild of One-Name Studies. I had a brief chat with Andy Grierson from Sheffield University, one of the citizen scientists who published an important paper on the phylogeny of haplogroup R1b1a2 based on detailed analysis of public datasets such as the 1000 Genomes Project. He is now working on another interesting collaborative project which will no doubt be the subject of a new paper in due course.

On Saturday night I attended the dinner at Pizza Express organised by the Association of Professional Genealogists. It was good to catch up again with Rosemary Morgan. I was finally able to meet Kirsty Wilkinson who I had known for some time on Twitter but had never actually met face to face. I also briefly chatted with Bruce Durie who I had met over twenty years ago in another life at a pharmaceutical conference in Montreux in Switzerland. By an extraordinary twist of fate we now both share the same publisher in the form of the History Press. Then it was time for the long train ride home and a few snatched hours of sleep before another long day at Olympia on Sunday.

See also
- Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history
- Who Do You Think You Are? Live Day 3 Part 2: The new ancient root of the Y-tree

© 2013 Debbie Kennett

Bargain-priced 12-marker Y-DNA test for WDYTYA

2013-02-20T23:18:00.000Z

Family Tree DNA has announced a special low price for its basic 12-marker Y-chromosome DNA test for a "limited time period". The closing date of the offer has not been announced but the sale is timed to coincide with Who Do You Think You Are? Live, the world's largest family history show which takes place this weekend at Olympia in London. I shall be attending this show and helping out on the ISOGG stand (stand no. 400 near the DNA workshop area) so if you have any questions about DNA testing do come along and say hello. I shall also be doing a talk on "DNA for beginners" on all three days of the show as part of the drop-in DNA workshops. I will be explaining in detail the DNA tests that can be used to help with your family history research.

The official press release from GenebyGene, FTDNA's parent company, is given below. It should be noted that the 12-marker test is a low-resolution test. People can often have thousands of 12-marker matches, most of which will not be of any relevance in a genealogical timeframe. However, at the other extreme some people can have no matches at all at 12 markers. The basic 12-marker test will also give you a haplogroup assignment so if you are only interested in knowing your haplogroup this test would be a useful introduction to DNA testing. For genealogical matching purposes the standard entry-level test is now the 37-marker test.

Family Tree DNA Unveils $39 DNA Test in Major Step Toward Universal Access by Individuals to their Own Genetic Data

-- The world's lowest cost genetic test offers an introduction to the insights and knowledge to be gained from personal genetic and genomic research --

HOUSTON, Feb. 20, 2013
FamilyTreeDNA.com, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to $39, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and
genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line. In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA's comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line. The company expects to unveil new pricing for this test in spring 2013.

As the sponsor [of the] DNA Workshop of "Who Do You Think You Are - Live" in London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database - the largest of its kind in the world.

"We believe the first step to unearthing your personal and family history is to better understand your DNA," Gene By Gene President Bennett Greenspan said. "That's why we are continuously investing in new technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices. Our $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data."

Customer Inquiries
Individuals interested in Family Tree DNA's $39 Y-DNA test, or any of its ancestral testing products, can visit www.familytreedna.com for more information.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:
Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn

888-609-8351

croft@csirfirm.com

SOURCE Gene By Gene, Ltd.

Richard III's malocclusion

2013-02-13T18:20:00.000Z

The following has been sent to me by Deenagh Reynolds, a dentist who tells me she "put down her drill five years ago":

"I was surprised to find in the coverage of the identification of the remains of King Richard that no reference was made to the relationship in the skull of the upper and lower jaws and teeth. The photograph of the skull shows a mild malocclusion, with the lower jaw slightly more prominent than the upper jaw, the anterior teeth therefore meeting "edge to edge", instead of the much more common relationship where the upper anterior teeth overlap the lower teeth, normally by 2 or 3 mm.

Looking at the portrait of the skull one can see this same property in the profile of King Richard as shown by the artist.

Another tell-tale sign is the unusual wear on the incisive edges of the upper and lower incisors, again proving the characteristic malocclusion, which is variously known as a "mild Angles' Class Three", a "Hapsburg Jaw" and, in more recent times, a Churchillian jaw. It would be interesting to see other portraits of the King in profile, in order to check that this marked facial characteristic is evident.

A prominent chin is quite a strong genetic feature and may be evident in other members of that Royal House."

The Richard III Society held a press conference where they unveiled the specially commissioned facial reconstruction. The video can now be seen on YouTube and this provides the opportunity to view the face from a variety of different angles.

Richard III - a king is found

2013-02-04T14:40:00.001Z

I have been fascinated by the story of Richard III ever since reading the intriguing historical detective story The Daughter of Time by Josephine Tey many years ago. I was therefore glued to the computer this morning watching the BBC's livestream of the Richard III press conference when the results were announced of the five-month investigation into the findings from the archaeological dig in the now world-famous car park in Leicester. The research has been an extraordinary multidisciplinary effort involving the work of experts in archaeology, history, genetics, osteoarchaeology and engineering. The lead archaeologist Richard Buckley announced to cheers from the world's press that "It is the academic conclusion of the University of Leicester that beyond reasonable doubt the individual exhumed at Greyfriars in September 2012 is indeed Richard the III, the last Plantagenet king of England." The full story can be read in an article on the BBC website entitled Richard III dig: DNA confirms bones are king's.

The University of Leicester has today launched a new Richard III website with further information on the research. There is currently an incomplete page of multimedia resources but it looks as though there will be some very interesting videos added to this page in the days and weeks to come, and we can probably expect to see a video of the full press conference for those who missed it.

Genealogy research was crucial to the investigation. The researchers were able to trace two direct matriline descendants of Anne of York, Richard III's sister, both of whom provided DNA samples for mitochondrial DNA testing. One of the descendants chose to remain anonymous. The second descendant is a Canadian by the name of Michael Ibsen who is now living in London. The genealogical research was greatly facilitated by earlier research by the historian John Ashdown-Hill, and the line that he established has now been independently verified. An outline of the matriline can be seen here. Professor Kevin Schürer, the University of Leicester's Pro-Vice-Chancellor for Research and Enterprise, discusses the process in this YouTube video:

The full details of the DNA testing have not yet been revealed, so we do not yet have confirmation of the haplogroup and we do not know how much of Richard III's mtDNA could be sequenced. However, Michael Ibsen's mother, the late Joy Ibsen, had her mtDNA tested several years ago and we know that she belongs to haplogroup J, one of the rarer mtDNA haplogroups. Assuming that these earlier results were accurate we can, therefore, infer that Richard III is also haplogroup J. The University of Leicester website includes a stunning electropherogram showing the matching mitochondrial DNA results of Richard III, Michael Ibsen and the anonymous donor. There is already a large haplogroup J project at Family Tree DNA and, once the DNA results are known, it will be interesting to see if anyone in the project matches the Richard III DNA signature. Ideally for genealogical matching purposes we require a sequence of the full mitochondrial genome (all 16,569 base pairs). However, because of the rarity of haplogroup J and all the overwhelming evidence from other sources, a partial match would be sufficient in this particular case. Michael Ibsen and his sister do not have any children and their mtDNA line will, therefore, become extinct upon their death, demonstrating once again how important it is to obtain DNA records while you still have the chance.

The researchers are also hoping to extract some Y-chromosome DNA but this research is still in the early stages, and it will probably be some time before we know if this is possible.

Channel 4 has been following the dig and the subsequent research for the last five months and a programme will be shown tonight at 9.00 pm (UK) called Richard III: King in the Car Park. A preview can be seen here:

I wonder if the exciting discovery of the remains of Richard III will now open the doors for a scientific investigation of the remains of the two skeletons discovered under the stairs in the Tower of London in 1674 which are thought to be the bodies of the Princes in the Tower. The bones were reburied in Westminster Abbey but the Queen and the church authorities have refused previous requests to exhume the bodies.

Update
See this thread on the Genealogy DNA mailing list and a further follow-up thread for a discussion of the mtDNA results.

Update 6 February 2013
The Richard III press conference can now be seen on YouTube.

Update 8th February 2013
James Lick has used his mtDNA haplogroup prediction program to analyse what is known of Richard III's mtDNA sequence. See his blog post "Analyzing the mtDNA of the presumed Richard III skeleton with mthap" and the follow-up blog post in which he suggests that the inferred haplogroup is most likely J1c2c. The J1c2c haplogroup has been confirmed by Dr Turi King in an article published in Science News.

Useful links
The following links might also be of interest:
- Leicester University's Richard III website
- Richard III: The King in the Car Park (Channel 4 website)
- Press release from the University of Leicester
- Press release from the Richard III Society
- The University of Leicester's Richard III Facebook page
- The Richard III Society
- The University of Leicester's Greyfriars Project website
- Live updates from the This is Leicestershire website
- Facial reconstruction shows how king may have looked
- Richard III: The twisted bones that reveal a king
- BBC 4 Today interview with the historian John Ashdown-Hill
- The Last Days of Richard III and the Fate of his DNA: the Book that Inspired the Dig by John Ashdown-Hill
- Wikipedia article on the exhumation of Richard III
- Now is the winter of our uncertainty made glorious summer by this sun of journalistic zeal by Julian Champkin

New Conditions of Use and Privacy Policy for SMGF site

2013-01-21T12:00:00.000Z

Two new updates have been made to the Sorenson Molecular Genealogy Foundation website in the last week.

1) New Conditions of Use which took effect from 15th January:

www.smgf.org/terms.jspx

2) A new Privacy Policy which similarly took effect from 15th January:

www.smgf.org/privacy.jspx

The Sorenson Molecular Genealogy Foundation was acquired by Ancestry.com in March 2012. Ancestry have previously indicated that the SMGF site "will continue to operate for the foreseeable future". However, in October 2012 it was announced that Ancestry was to be acquired by the European private equity firm Permira. The sale was completed in December 2012.

It remains to be seen what will happen to the SMGF database now that ownership has effectively passed from Ancestry to Permira. The forms on the SMGF website clearly state that the database is now owned by AncestryDNA but do not mention the acquisition by Permira. The terms of the new conditions suggest that in future it will probably be necessary to "register for an AncestryDNA account in order to access certain services".

The new Privacy Policy allows for the sale or transfer of SMGF assets:

As our business continues to grow, we might buy or sell subsidiaries or business units. In these transactions, personal information is often one of the transferred assets. Also, in the event that AncestryDNA, or substantially all of its assets are acquired, personal information will, as a matter of course, be one of the transferred assets.

If you have submitted a DNA sample to SMGF I would suggest you review the new Conditions of Use and Privacy Policy. It should be noted that you have the right to remove your DNA record from the SMGF database. Instructions can be found on the SMGF Consent Form which specifically states:

Participation in this study is strictly voluntary. You may choose not to participate. You also have the right to end your participation at any time, and to decide whether the biological sample, genetic information, or genealogy you provided can remain part of the study or must be destroyed.

The consent form can be found here:

www.smgf.org/resources/forms/ConsentForm_English.pdf

The consent form also states: "You will be told about any new information that might change your decision to be in this study."

As far as I am aware SMGF participants have not yet received any communications from AncestryDNA or Permira to advise them of the sale, the new Privacy Policy and the changed Conditions of Use. I hope this situation will soon be rectified.

© 2013 Debbie Kennett

Genographic results from the UK

2012-12-12T18:12:00.000Z

The first results from Geno 2.0, the new DNA test from the Genographic Project, are now starting to appear. A genetic genealogy friend in the UK has very kindly agreed to share screenshots of his results with me for publication on this blog. One of his parents is English and the other is from the Philippines so he has some very interesting results. Each participant is a given a very cool infographic summarising their results which they can share with their friends.

These are the pages which tell the personal genetic story of the participant.

The two reference populations with which this participant most closely matches are Vietnam and Romania. These seem rather odd selections and don't match his documented ancestry from England and the Philippines, but perhaps there are insufficient reference populations in the database to give accurate matches.

This close up provides details of the British reference population used by the Genographic Project.

A fun part of the test is that you are told your percentages of Neanderthal and Denisovan ancestry.

For the Y-DNA results you get a nice map showing the migratory path of the different branches of the Y-DNA tree. This is the map showing the path of U106, one of the major branches of the R1b tree.

We can then follow the journey of U198, one of the subclades of U106.

This rather nice heat map shows the distribution of U198, which appears to be found almost exclusively in the British Isles and north-western France. It would be helpful to have the references that were used to compile the map. Perhaps that information will be added later.

For the mitochondrial DNA there is a description of the haplogroup, which in this case is haplogroup F, reflecting the participant's maternal ancestry from the Philippines.

There is a map showing the migratory path of haplogroup F.

There is also a heat map showing the places where haplogroup F is mostly found, though again it would be useful to have a list of the sources used.

Genographic results can be transferred free of charge to the Family Tree DNA database. CeCe Moore has blogged about her own results and has also included detailed instructions on the process of transferring results to FTDNA. We will no doubt learn much more as people test and contribute their results to research. Genographic results will be updated on a regular basis as more results are received and more reference populations are added to the database. For further information on the Genographic Project visit the Genographic website.

Websites

U106 project website at Family Tree DNA

U198 project website at Family Tree DNA

23andMe test now down to $99

2012-12-11T16:47:00.000Z

The personal genomics company 23andMe has just announced that it has reduced the cost of its test from $299 to $99. The new price has been made possible following the company's announcement today that it has raised more than $50 million of funding with the aim of helping them to achieve their growth goal of one million customers. The full press release can be read here.

Note that postage for the 23andMe kits in the US costs just $9.95 but is significantly more expensive in other countries as the kits are sent not by post but by courier although a prepaid return service is included in the cost. In some countries there are additional customs charges. Shipping to the UK costs $79.95. It costs $59.95 to send the kits to Canada, and $74.95 for Australia and New Zealand. I have not checked all the prices but I noticed that 23andMe charge $94.95 to ship to Cyprus, Malta and Iceland and $118.95 to send kits to Bosnia and Belarus. For a list of countries that 23andMe will ship to see this FAQ on their website.

Note that if you test with 23andMe you can also transfer your results to Family Tree DNA's Family Finder database for genealogical matches. Note however that the Y-DNA and mtDNA results from 23andMe are not included in the transfer as these results are not compatible with FTDNA's genealogical matching database. Although the 23andMe test includes a Relative Finder feature many of the people who test with 23andMe do so for health reasons and aren't interested in researching their family tree. Family Tree DNA also has a much more international database than 23andMe, largely thanks to its association with the Genographic Project. FTDNA will in theory send kits to any country in the world and charge a flat rate of just $6 for international postage. For information on the process of transferring kits to FTDNA please read the FAQs on Third-Party Transfers.

For further information on the 23andMe test read my four-part feature on "Exploring my genome with 23andMe":

Part 1 Disease risks
Part 2 Carrier status and drug responses
Part 3 Traits
Part 4 Ancestry

See also my blog post on 23andMe's new Ancestry Composition - a British perspective.

23andMe's new Ancestry Composition - a British perspective

2012-12-08T22:47:00.002Z

23andMe's new Ancestry Painting feature, now known as Ancestry Composition, has just been launched. The old Ancestry Painting was only able to distinguish between three continental population groupings - European, Asian and African. I was a very boring and predictable 100% European.

Ancestry Composition provides a biogeographical analysis based on 22 reference populations. 23andMe have provided an excellent guide to the science behind Ancestry Composition which is well worth reading in order to get an understanding of how the analysis works. Ancestry Composition provides a number of different views showing your comparisons with global, regional and subregional populations at three different confidence thresholds - speculative (50%), standard (75%), and conservative (90%).

My documented ancestry is all from the British Isles. I know the names and birth places of 15 of my 16 great-great-grandparents and they are all English. In this generation I have one illegitimate line which has prevented from me finding out the name of the remaining ancestor. The birthplaces of these 15 great-great-grandparents are: Burrington, Devon; Bristol (2); Thornbury, Gloucestershire; Clapham, London; Colchester, Essex; Sandon, Hertfordshire; Limehouse, London; Bermondsey, London; Merriott, Somerset; Sydenham, Kent; Sydmonton, Hampshire; Kintbury, Berkshire; Westminster, London; Sherston, Wiltshire.

I know the names of 27 of my 32 great-great-great-grandparents, but I only know the birth places of 21 of these ancestors. All of my known ancestors are from the British Isles. These are the birth places where known: Ashreigney, Devon; Mariansleigh, Devon; Thornbury, Gloucestershire; Bristol; Great Yeldham, Essex; Preston, Hertfordshire; Sandon, Hertfordshire; Scotland (place not known); Hackney, London; Laverstoke, Hampshire; County Kerry, Ireland; Merriott, Somerset; Rickmansworth, Hertfordshire; Shoreditch, London; Ecchinswell, Hampshire; Welford, Berkshire; Kintbury, Berkshire; Salford, Bedfordshire; Holborn, London; Leighterton, Gloucestershire; Purton, Wiltshire.

Ancestry Composition gives me the following percentages:

Sub-regional Resolution
Standard Estimate
17.4% British and Irish
1.6% French and German
74.2% Nonspecific Northern European
0.1% Sardinian
0.2% Nonspecific Southern European
6.5% Nonspecific European
0.1% Unassigned

Conservative Estimate
0.3% British and Irish
71.1% Nonspecific Northern European
0.1% Nonspecific Southern European
28.0% Nonspecific European
0.5% Unassigned

Speculative Estimate
56.7% British and Irish
10.7% French and German
0.1% Scandinavian
31.2% Nonspecific Northern European
0.3% Sardinian
0.5% Nonspecific Southern European
0.4% Nonspecific European

The Sardinian and Southern European percentages are undoubtedly false positives. It is not clear if the French and German admixture appears because of the difficulties in distinguishing between British, French and German populations or if this is a reflection of more distant admixture from the Normans and Saxons.

This screenshot shows the much improved Ancestry Composition with a view of my Speculative Estimate.

These are my percentages for the Regional and Global Resolutions:

Regional Resolution
Standard Estimate
93.2 % Northern European
0.2% Southern European
6.5% Nonspecific European
0.1% Unassigned

Conservative Estimate
71.4% Northern European
0.1% Southern European
28% Nonspecific European
0.5% Unassigned

Speculative Estimate
98.8% Northern European
0.9% Southern European
0.4% Nonspecific European

Global Resolution
Conservative Estimate
99.5% European
0.5% Unassigned

Standard Estimate
99.9% European
0.1% Unassigned

Speculative Estimate
100% European

Although the subregional representations do not assign me with as much British ancestry as might be expected it is worth bearing in mind that these analyses are still in their infancy. 23andMe explain in their Ancestry Composition guide that their reference populations are largely drawn from their customer base and are supplemented from public reference datasets such as the Human Genome Diversity Project, HapMap, and the 1000 Genomes project.1 However, only a small number of genomes are as yet available in the public datasets. The 23andMe customers who are included in the reference dataset are required to have four grandparents born in the same non-colonial country. Although 23andMe were reported to have 180,000 paying customers in their database as of 9th October 2012, their customers are mostly Americans of mixed ancestry, few of whom will meet the qualifying criteria.2 Not all of the 23andMe customers will in any case have filled out the ancestry questionnaire. With the combination of 23andMe customers and public datasets there are just 7,868 people in the reference dataset used for Ancestry Composition. As all four of my grandparents were born in the UK I presume my own results have been included in this reference dataset. I think it is a shame that 23andMe's questionnaire does not split up the United Kingdom into the four constituent countries as it would be more interesting to see if differences could be found between England, Scotland, Wales and Northern Ireland, rather than lumping all four very different countries together.

23andMe very helpfully provide details of the reference populations that they have used in their analysis. Below are screenshots showing the figures for the reference populations which appear in my Speculative Estimate.

As can be seen, the numbers are very small, but 23andMe have designed the Ancestry Composition tool in such a way that the results can be updated on a regular basis as and when more populations are added to the reference databases so no doubt the accuracy of the predictions will improve over time. For those of us from the British Isles we can probably expect to see big improvements when the datasets from the People of the British Isles Project become available. This project has tested over 4,500 people from the UK.3 To be eligible for the project people must have not just four grandparents from the same country but four grandparents from the same rural county. It might, therefore, one day be possible to assign percentages of DNA to specific English counties or regions.

"British/Irish" DNA seems to have been a particular problem with Ancestry Composition. Although the tool has a very high accuracy rate for the DNA which is assigned as British and Irish in their validation tests (a "precision" level of 0.90), they are much less successful at identifying all British/Irish DNA as British/Irish. The technical term for this is the recall rate. The recall rate for British and Irish DNA in the 23andMe validation tests was 0.32%, meaning that 68% of British and Irish DNA will not be picked up.1 The recall rate will no doubt improve as more reference samples are added to the database. However, it is difficult to quantify British or Irish DNA because we are an admixed population, comprising a mixture of DNA from many different groups such as the Saxons, Celts, Vikings, Picts, Normans, Bretons and Romans.

Chromosome view
As well as the map view there are two alternative views: split view and chromosome view. To use the split view it is necessary to have one parent in the 23andMe database. As my parents have not tested with 23andMe I cannot make use of this feature. I can, however, access the chromosome view which provides an interesting breakdown of the various percentages on the individual chromosomes. The screen shot below shows my Speculative Estimate.

With so many similar shades of blue it's quite difficult to distinguish the individual populations that make up each chromosome, though you can hover over a specific population to get a clearer picture. The screenshot below picks out the chromosomes where 23andMe speculates that I match with French and German populations.

As can be seen, whole chromosomes seem to have been matched with French and German populations which I don't quite understand. I don't have any French or German ancestry within the last several hundred years, though at the population level all British people would be expected to share many markers in common with the French and the Germans, but after several hundred years have passed I would have thought that there would only be tiny segments of "French" and "German" scattered throughout my genome.

Neanderthal DNA
In addition to Ancestry Composition another interesting and fun feature of the 23andMe test is that it will give you your percentage of Neanderthal admixture. This feature was introduced in December 2011.4 23andMe estimate that 2.5% of my DNA is inherited from Neanderthals.

Neanderthal percentages are also provided by the new Geno 2.0 test from the Genographic Project, which also provides percentages of Denisovan DNA. I imagine that 23andMe will eventually update their test to provide Denisovan percentages.

Conclusion
Ancestry Composition is a great improvement on 23andMe's Ancestry Painting. The percentages seem to be much more accurate than those provided by AncestryDNA. 23andMe also benefits by providing technical information on the methodology used by the scientists and they also provide valuable details of the reference populations used for the analysis, features which are notably absent at AncestryDNA. Family Tree DNA's Family Finder test includes a tool known as Population Finder. An update to Population Finder is expected in the New Year and it will be interesting to see how this compares with Ancestry Composition.

Other blog posts on Ancestry Composition
A number of other bloggers have written about their experiences with Ancestry Composition or provided commentary. Here is a list of the posts I have found to date. I will update the list as and when new posts are discovered:
- 23andMe's new Ancestry Painting - first look! by CeCe Moore. This post includes screenshots showing statistics on all the reference populations used by the Ancestry Composition tool.
- 23andMe Ancestry Composition Examples Part 1 by Andrea Badger. This post includes a magnificent selection of screenshots from people with a variety of mixed heritage producing a wonderful rainbow of colours.
- New worldview at 23andMe by Roberta Estes.
- My Ancestry Composition from 23andMe by Aidan Byrne.
- 23andMe Ancestry Composition by Dienekes Pontikos.
- Admixture advances by Judy Russell
- 23andMe adds ancestry composition by John Reid
- Is Daniel MacArthur 'desi' by Razib Khan

References
1. Ancestry Composition: 23andMe's State-of-the Art Geographic Ancestry Analysis. Anonymous article on the 23andMe website. Accessed 8th December 2012.
2. How many paying customers does 23andMe have? Answer provided on Quora.com website by 23andMe software developer Alex Kohmenko on 9th October 2012.
3. The website of the People of the British Isles Project Project keeps track of the collection progress. As of 8th December 2012 it was reported that 4,538 samples had been collected.
4. Find your inner Neanderthal. 23andMe blog post by Scott H, 15th December 2011.

See also
My four part feature on "Exploring my genome with 23andMe":
Part 1 Disease risks
Part 2 Carrier status and drug responses
Part 3 Traits
Part 4 Ancestry

Family Tree DNA Conference 2012 - citizen science comes of age

2012-11-27T19:00:00.001Z

Each year in October or November Family Tree DNA host a conference in Houston, Texas, for their volunteer project administrators. The two-day programme includes a mixture of talks from FTDNA scientists, staff and project administrators. The conference is often the place where exciting new developments are announced. This year's conference, which took place from 10th to 11th November, was no exception. A number of the attendees were tweeting from the conference which enabled us to pick up most of the news as it happened. Twitter does not allow old tweets to be searched so you can no longer search for the #FTDNA2012 hashtag. You can, however, access the tweets from the accounts of the individual users: @ancestryjourney @Smitty327 @TrevorRix @khborges @CeCeLMoore @Genealem @RichardHillDNA @RobertaJEstes ‏@winincentive @Greenleafy and @spwells.

The big news from the conference was the announcement of the new Y-DNA haplogroup A00 in a joint presentation by Bonnie Schrack, Thomas Krahn and Michael Hammer which was unassumingly entitled "In Search of the Root: Discovery of a Highly Divergent Y-chromosome Lineage". The new haplogroup A00 is now the oldest and deepest-rooted branch of the human Y-DNA tree and is thought to date back about 338,000 years, making Y-Adam much older than mitochondrial Eve, who dates back around 200,000 years. Earlier studies had suggested that Y-chromosomal Adam, the common patrilineal ancestor of all males alive today, lived around 142,000 years ago. The new date for the root of the Y-tree now takes us back into uncharted territory because the earliest example of an anatomically modern human from the fossil record dates back only 196,000 years ago. However, the most astonishing aspect of this discovery is that it came about not because of the research of university scientists but from the hard work and dedication of an amateur genetic genealogist, Bonnie Schrack, who became involved in the world of DNA testing through her genealogical research and a simple desire to learn more about her roots. Bonnie is the volunteer project administrator of the haplogroup A project at Family Tree DNA, a job which she does in her spare time. Bonnie galvanised the support of her project members and the wider genetic genealogy community to arrange for some tests to be done on selected members of the haplogroup A project as part of FTDNA's Walk through the Y programme. Funding for the WTY tests was provided not from academic research grants but by members of the genetic genealogy community from around the world. Stan Pietrzak from Poland has been one of the project's most generous and enthusiastic supporters. Thomas Krahn, who heads up Family Tree DNA's Genomics Research Center in Houston, is in charge of the WTY programme. He and his wife Astrid were reportedly up all night doing the landmark WTY test, scoring more and more markers with a growing sense of disbelief before they finally realised what an amazing discovery had been made. Dr Michael Hammer, FTDNA's Chief Scientist, who has his own laboratory at the University of Arizona, then became involved when the momentous nature of the discovery was realised. In order to determine the placement of the new SNPs on the Y-tree Thomas went on to do WTY tests on samples from a chimp and a gorilla, and also analysed gorilla and chimp Y-STR markers. The person whose sample was used in the WTY project is a gentleman from South Carolina who is descended from a former slave. Little did he know when he agreed to take the test to help with his family history research that he would be making history! Further information on the new haplogroup A00 can be found in the following blog posts and websites:

- The Y haplogroup A website, a new website from Bonnie Schrack which includes links to the slides from her talk at the conference as well as her speaking notes
- The new root - haplogroup A00 by Roberta Estes
- Your paternal line just got much longer by Dave Dowell
- A00 on the Y haplogroup tree: a new view of African origins from a Y-chromosome perspective Thomas Krahn's very technical slides for his presentation at the FTDNA conference. This presentation includes links to the Ysearch IDs for the gorilla and chimp Y-STRs (25 markers) and the haplogroup A00 Y-STR signature (94 markers)
- Walk through the Y project Thomas Krahn's WTY presentation from FTDNA 2012
- A00 at FTDNA 2012: history in the making? A blog post from Dienekes Pontikos
- Haplogroups A and the top of the modern human tree a diagram from Stan Pietrzak

A scientific paper is in preparation and will be published in the near future. These findings beg the question as to what other discoveries are waiting to be made. The world population is now over seven billion. Family Tree DNA have the world's largest Y-DNA database with almost 250,000 Y-DNA results from around the world, yet this represents just a tiny fraction of the total male population. I am sure there will be many more exciting discoveries to be made in the years to come as more people get their DNA tested.

The other big news from the FTDNA conference was the announcement that FTDNA's parent company has undergone a major restructuring and is now known as GenebyGene with four separate divisions: Family Tree DNA for genetic genealogy; DNA Traits for health tests; DNADTC for research-use genetic tests; and DNAFindings for paternity testing. The research arm DNADTC is now offering complete genome sequencing, and they are the first commercial company to do so. The test costs $5495 with a minimum order of three tests. No data analysis is provided. The test is not targeted at the consumer market but, as the price of sequencing drops, it cannot be too long before complete genome sequencing becomes a reality at an affordable price for the genetic genealogist, though data processing, analysis and interpretation will be a challenge.

A number of conference attendees have blogged about their experiences. Each blogger brings a slightly different perspective and all the posts are well worth reading:

- 8th Annual Conference on Genetic Genealogy - Day 1 by Jennifer Zinck
- 8th Annual Conference on Genetic Genealogy - Day 2 by Jennifer Zinck
- Family Tree DNA Conference: Nits and Grits by Roberta Estes
- Family Tree DNA's 8th International Conference on Genetic Genealogy Day I by Emily Aulicinio
- Family Tree DNA's 8th International Conference on Genetic Genealogy Day 2 by Emily Aulicinio
- FTDNA 2012: Geno 2.0 and more by Judy Russell
- Native American Focus Meeting by Roberta Estes
- Photos from FTDNA 2012 from Trevor Rix
- A visit to Family Tree DNA's state-of-the-art lab by CeCe Moore

I would like to thank everyone who tweeted and blogged from the conference. It made all the difference to those of who could not attend in person. If I've missed any links do let me know and I will update this blog post accordingly.

This post was originally written on 27th November 2012 but was embargoed for publication until 28th February 2013 when the paper on the new root of the Y-tree was published in the American Journal of Human Genetics: http://www.sciencedirect.com/science/article/pii/S0002929713000736

© 2012-2013 Debbie Kennett

First results from Geno 2.0

2012-11-22T18:13:00.000Z

A few people have started to receive their first results for the new Geno 2.0 test from the Genographic Project. CeCe Moore has posted some screenshots on her blog showing results for the autosomal DNA component of the test. Dave Dowell has blogged about his mtDNA results and has published an example of a "heat map" for haplogroup H. We are still waiting to see the first Y-DNA results.

I have not ordered the Geno 2.0 test for myself as I have already taken the full mitochondrial sequence test with Family Tree DNA. The ethnicity percentages from the autosomal part of the test will not yield any meaningful information and should only confirm that I am "British", which I already know from my family history research! As a female I do not have a Y-chromosome and I would, therefore, not be able to receive any Y-DNA results. However, if you are interested in your deep ancestry and wish to know your mtDNA and Y-DNA haplogroups then the Geno 2.0 test is a good choice. The Y-DNA and mtDNA results can also be transferred to Family Tree DNA where you can join the relevant haplogroup projects and order additional testing for genealogical purposes. The Geno 2.0 test will provide very detailed Y-DNA haplogroup assignments and has essentially replaced the old deep clade test offered by Family Tree DNA.

I contributed my mtDNA results from Family Tree DNA to the first phase of the Genographic Project. I am still able to log into my Genographic account to access my results. The website has been updated and I am now getting the same screenshot as the Geno 2.0 participants. However, I note that I have been downgraded to a simple haplogroup U rather than a U4, and I am no longer able to access any information on haplogroup U4. It may be that the new haplogroup pages have not yet gone live and my haplogroup will be adjusted when this has been done.

Extinct and endangered surnames

2012-11-18T18:10:00.001Z

My new Surnames Handbook has received a very welcome mention in an article in today's Sunday Telegraph. However, there are a number of errors in the article which I would like to correct. The article gives the impression that the extinct and endangered surnames featured in the article are mentioned in the book, but in fact I don't cover the subject, though I do discuss the differing distribution patterns of many surnames.The survival of surnames is indeed a random process but some surnames have multiple origins and have a much better chance of surviving than a surname with a single origin.

Surnames were in fact in use in Ireland before they were introduced in England following the Norman Conquest. In Scotland the situation is more complicated but, as a result of English influence, some surnames were in use in Scotland after the Conquest, but surnames developed much later in the Gaelic-speaking areas in the Highlands. While there are some "seasonal" surnames which are from days of the week (Friday), festivals (Christmas) and months (February, May), the derivation is not always what it appears. Reaney and Wilson suggest, for example, that the surname May is derived from the Middle English word may meaning "young lad or girl" or that it might be a pet form of Matthew, from Mayheu or Mayhew.1

In the book I did discuss the difficulties in trying to establish how many surnames there actually are. There are no precise figures available for England and Wales, and it is almost impossible to say how many surnames there actually are in the world. The General Register Office does of course keep records of all births, deaths and marriages in England and Wales, but their records are not available in a database format that can be searched to produce comparative statistics for surnames. Recent electoral registers are not available for public inspection, though it is possible to search an edited version on websites such as 192.com.

The information on the extinct surnames that were used in the Telegraph article was provided by some of my fellow members of the Guild of One-Name Studies. As the Telegraph only provided very brief details of these surnames I have taken this opportunity to provide further information and I've added a few more names to the list which arrived too late to be included in the article. If you know of any more extinct or endangered surnames do let me know.

Bodiman/Bodymead

Guild member Andrew Millard is studying the surname Bodimeade. He tells me that some of the variant spellings of his surname have now died out. The last bearer of the surname Bodiman died in 1820, and the last member of a family which consistently spelled their name Bodymead died out in 1901. You can read more about Andrew's study on his Guild profile page.

Boyell
Guild member Phil Hand is studying the surnames Boyell, Boyall and Boyall. Boyell is a variant spelling of Boyall and first appeared in the records in about 1810. There are only about 45 people born with the Boyell variant spelling, all of whom are descendants of a Richard Boyell who had the 'a' of his surname crossed out on his 1814 marriage entry and an 'e' written above it. The name is now held by a single lady in England, though there are also a couple of Boyells in the USA. The Boyells in the US appear to be Boyles who have changed the spelling of their surname quite recently. The surname Boyall is centred around Lincolnshire and Rutland.

Bythewood

The surname Bythewood has been investigated by Guild member Ros Dunning though she has not as yet registered the surname with the Guild. The surname became extinct in Britain in the middle of the nineteenth century but a single Bythewood emigrated to the United States. Ros tells me that "he had so many children both legitimate and illegitimate (by slaves) that he managed to keep them going in the States!" The surname Bythewood does not appear in any surname dictionaries but is most probably not an occupational surname as the reporter supposed but was probably a topographical surname which would originally have been written as "By the wood".

Doogood

The surname DOOGOOD, which is being studied by Guild member John Hill, is on the brink of extinction in the UK though it is alive and well in Australia. There are no more than seven people with the surname in England and Wales and, as far as John knows, none in Scotland or Northern Ireland. John's research indicates that the living male Doogoods have either not married or had no male children so there appears to be little chance of the surname continuing in use.

It is probably a nickname which probably arose independently in several locations. Prior to about 1800 there were Doogoods in various counties including Hampshire, Norfolk, Lincolnshire, Somerset, Herefordshire and Worcestershire as well as in London. There were also a few in Scotland. John's research has shown that all the other branches died out. All the living Doogoods can be traced back to the parishes of Leigh and Bransford in Worcestershire in the mid 1500s. They remained in this area until about 1800. Further information about the Doogood surname can be found on John's Guild profile page.

Earthridge
Guild member Michael Simpkin is studying the surname Earthridge which appears to be extinct in the UK, though it's possible that it might still be found in North America and in the Republic of Ireland. Having studied the surname for some time Michael has come to the conclusion that it is probably a rare variant of a group of surnames of which Etheridge is the most common.

Foothead

The surname Foothead is being studied by Guild member Carol Gilbert. The surname is now extinct in the UK but still lives on in Australia and New Zealand. Carol's great grandfather Edward James Foothead was at one time the only male of the name in the world. He emigrated to New Zealand in 1874 where he had ten children, all but one of whom were boys. Most had children of their own so there are a few more now than there were though still not many. You can read more about Carol's research into the Foothead surname on her profile page on the Guild's website.

Hudgill
Guild member Pamela Bishop is studying the surname Hudgill. This name is on the verge of extinction and there is currently just one living male left in the whole world with this surname. Hudgill is a variant of the name Hudgell which, in contrast, has continued to thrive. Further information on the Hudgill surname can be found on Pamela's one-name study website.

Mackmain

Guild member James Mackman is studying his own surname Mackman. During the course of his research he has also studied the surname Mackmain. He tells me:

The name Mackmain seems to have died out. At one time we thought it was related to Mackman but we've never found a connection. On the off-chance that there was a connection I have spent many hours checking Mackmain references. Altogether I have about 70 Mackmains. The last one (Norman Langford Mackmain) died in 1964. There are no Mackmains in any phone book I've come across anywhere in the world. There are no references to living Mackmains on Google.

James has been able to trace his own Mackman name back to a James Makeman who was christened on 10 January 1747/8 and is the common ancestor of 411 of the 477 living Mackmans he has traced. Fifty-three Mackmans are descended from four different ancestors whose surname changed to Mackman for various reasons. The ancestors of the remaining 13 Mackmans have yet to be identified. The origin of the common ancestor's surname is not known.

Oal or Oall
Guild member Donald Grant is studying the surname Scoon, but has supplied information about another surname Oal or Oall which he has also researched. This surname appears in Caithness in the late 18th century as an Anglicisation of the Scots dialect name Auld. For some reason, most of the line(s) in which this happened gradually reverted to the Auld spelling, so the name (but not the lines) died out by 1910. Some later Auld death certificates indicate that the name was "formerly Oal".

Pauncefoot

Pauncefoot is a surname which appears in my own family tree. I am descended from the Pauncefoots of Compton Pauncefoot in Somerset on my father's side of the family. My most recent Pauncefoot ancestor is Anne Pauncefoot, the daughter of Sir Walter Pauncefoot, lord of the manor of Compton Pauncefoot, and Tomasine Baumpfield. Anne was born on 4th July 1485, and we have a delightful proof of age document for Anne in which many of the local villagers turned out to testify to the date of her birth.2 Anne married John Whiting or Whyting, lord of the manor of Woode in the parish of Kentisbeare in Devon. The research on the early Pauncefoot tree has been done by my distant cousin the author Fay Sampson.

The earliest occurrence of the name is in the Domesday Book of 1086 where a Bernhard Pauncevolt was recorded as holding several manors in Hampshire. In early records the name appears with a variety of different spellings such as Pancefot, Pauncefot, Pauncefort, Pantesfort and Pauncheout. The Paunce element of the surname is derived from panche (Middle English), pance (Old French) or panche (Old Norman French) meaning "stomach". Volt is an Old French word for face, but also means "vaulted" or "arched". It is therefore suggested that the name refers to a man with an "arched and rounded belly". Alternatively the name may derive from the place name of Ponsford in Devon.3

The most recent reference to the surname that I can find dates from 1939 when a Miriam Pauncefoot was listed in the UK Electoral Register living at 3 Heythorp Street in Putney, London. The FreeBMD website has a single reference to the surname - the death of Emma Pauncefoot at the age of 67 in Hackney, London, in 1892.

Although the surname is now extinct the name is preserved as a manorial affix in the Somerset village of Compton Pauncefoot. There is a stone in the church in memory of my ancestor Anne Whiting née Pauncefoot, which also includes the coats of arms of both the Whiting and Pauncefoot families.

De Rippe

Ann McDonald has registered the surname Corner with the Guild but it is the De Rippe surname in her family tree which has become extinct. The last person with the name died in the 1890s. Ann has provided the following information on the surname:

The first records I can find of the De Rippe family (also spelt D'Rippe plus about 27 other deviant spellings!) are in Wakerley, Northamptonshire in the late 17th century. I haven't been able to find any record of them in the Huguenot registers I've looked at but there is a family with a similar name, generally Darripe or D'Arippe, in Portarlington, Ireland who did come from France. I can't establish a link between the two families but Abraham and Isaac are names common to both (a red herring?) The name Derippe is still current in France.

The De Rippes were mostly farmers or bakers and in the mid-18th century some of them moved to London establishing successful businesses as bakers and merchants. My heroine is Elizabeth who separated from her husband, a tea dealer in the City of London, in the late 18th century through Doctors' Commons, set up as a tea merchant on her own account, and was far more successful than her erstwhile husband. A famous descendant of the family with a De Rippe grandmother was Edward Aveling, a Socialist with a Congregationalist minister father, who lived for sometime with Karl Marx's daughter Eleanor. Eleanor committed suicide after Edward married another woman. The last person with the name was Charlotte who died in Epsom, Surrey in 1895 aged 94.

There are any number of us scattered throughout the world descended through the female line and De Rippe still appears as a middle name in some families to this day. I've been able to tie pretty well every occurrence of the name as a surname or middle name in England, the USA and Australia to the one extended family.

Rowbree

Rowbree is a variant of the surname Rowberry which is being studied by Guild member Polly Rubery. Polly tells me that there are now just two living people with the surname Rowbree, neither of whom are likely to carry it forward. You can read more about the Rowberry surrname and its variants on Polly's website, where she also provides detailed information on the origin of the surname.

Tillcott

Guild member Gillian Stevens is doing a one-name study of the surname Blofeld, but has also been researching other surnames in her family tree including the rare surname Tillcott. She tells me:

My 3 x great grandmother was Jane Tillcott 1782-1842 which I believe to be an at risk surname.

In 1841 there were 2 Tillcotts in the census, the brother and sister in law of the above Jane. These 2 had died by 1851 and there are no other Tillcott in this census. The only other census transcriptions in the census were 1871 via Ancestry where the Tillcott should have been Tallbott and via findmypast where a 15 year old servant was indexed as Tillcott (not sure what her name should be).

With regard to civil registration.There are 8 marriages from 1918 to 1948 all in the Hackney Registration District but I do not know where this "family" came from. There is one birth in 1930 of a Jean Tillcott belonging to one of the Hackney marriages. There are 3 deaths in Warwickshire 1837-1850 all relations of my Jane (her father and the two mentioned above) plus 8 London deaths including 3 from Hackney during the 20th century (I assume persons from the 8 Hackney marriages).

From Family Search there appears to be a small number in Canada and Ohio US. Similarly Google produces an extremely small number of the surname.

Gillian's Tillcots trace back to Northamptonshire but the origins of the surname are not known. The name does not appear in any surname dictionaries.

Wellbelove
Alan Wellbelove registered his surname and the variant spellings Welbelove, Welbeloved, Wellbeloved and Wellbeluff with the Guild of One-Name Studies in 2008. His one-name study is small with fewer than 400 name-bearers in England and Wales in 2002, and probably no more than 600 in total worldwide. These were the only spellings of the surname to survive into the twentieth century. Alan has provided the following information:

- Wellbeluff became extinct worldwide in 1986 with the death of the last name-bearer.
- Welbeloved became extinct in England & Wales in 2004, but still survives mainly in New Zealand and Australia.
- Welbelove numbers were estimated at 21 in 2002 and the name is rarely found outside of the UK, so it is in most danger of extinction.
- Wellbelove is the most common variant with an estimated 273 in England & Wales in 2002.
- Wellbeloved is found especially in South Africa and the USA. There were only 88 in England and Wales in 2002.

Since the nineteenth century the surname has occasionally been abbreviated to Welby/Wellby/Wellbye as a nickname and sometimes an alias. There is no single explanation for the use as an alias, but it has occurred not only in England, but also with different families in Scotland, South Africa and the USA. Alan is exploring these links with Guild member Daniel Welby who is studying the surname Welby with variants Welbee, Welbey, Wellbie, Welbye, Wellby and Wellbye. Further information on the surname Wellbelove and its variants can be found on Alan's Guild profile page. Further details on the Welby one-name study can be found on Daniel's Welby profile page.

References
1. Reaney, PH, and Wilson RM. A Dictionary of English Surnames. 3rd edition. Oxford University Press, reprinted 2005, p304.
2. Proof of Age. Inquisition 1502. Chancery Series II. VII 15 (57). Typed transcript from the Moget collection at the West Country Studies Library in Exeter, Devon.
3. Reaney, PH, and Wilson RM. A Dictionary of English Surnames. 3rd edition. Oxford University Press, reprinted 2005, p342.

Family Tree DNA winter sale 2012

2012-11-12T22:09:00.000Z

Family Tree DNA's winter sale has now started. The sale prices apply until midnight on 31st December (Houston time). The tests on sale include:

- Y-DNA 37 markers $119 (£75) (usual price $169 = £106)
- Y-DNA 67 markers $199 (£125) (usual price $268 = £169)
- Family Finder $199 (£125) (usual price $289 = £188)
- Full Mitochondrial Sequence $199 (£125) (usual price $299 = £188)

For prices in other currencies use a currency converter such as the XE Universal Currency Converter.

Special combination packages are also available. A full list of FTDNA products can be found here.

If you are thinking of ordering a Y-DNA test make sure you order your test through the relevant surname project so that your results can be compared with other people with your surname. By testing through a surname project you will also benefit from the assistance of a volunteer project administrator. If there is no project for your surname you can order a test through a geographical project. You can find a list of all the geographical projects for the British Isles here. There are also many other geographical projects, including projects for most European countries. You can find a full list of projects here. If you have documented ancestry from Devon I would be very pleased to welcome you to my Devon DNA Project. When you have received your test results and you know your Y-DNA and/or mtDNA haplogroup you can join the relevant haplogroup project. You can find a full list of Y-DNA haplogroup projects in the ISOGG Wiki. There is also a list of mtDNA haplogroup projects.

If you have already ordered a DNA test through Family Tree DNA and wish to order a new test, the special sale prices also apply. There are also reductions for upgrading Y-DNA and mtDNA tests. Click on Order an Upgrade on your personal page to check out the special offers. If you are upgrading a Y-DNA test I recommend upgrading to 37 or 67 markers. If you are upgrading a mitochondrial DNA test it is worthwhile upgrading to the full mitochondrial sequence at the current sale price.

ASHG abstracts

2012-11-04T21:23:00.001Z

The annual meeting of the American Society of Human Genetics will take place from 6 - 10 November in San Francisco. The posters can be searched online from the ASHG meeting website. The following three abstracts will be of particular interest to the genetic genealogy community.

The GenoChip: a new tool for genetic anthropology
S. Wells, E. Greenspan, S. Staats, T. Krahn, C. Tyler-Smith, Y. Xue, S. Tofanelli, P. Francalacci, F. Cucca, L. Pagani, L. Jin, H. Li, T. G. Schurr, J. B. Gaieski, C. Melendez, M. G. Vilar, A. C. Owings, R. Gomez, R. Fujita, F. Santos, D. Comas, O. Balanovsky, E. Balanovska, P. Zalloua, H. Soodyall, R. Pitchappan, G. Arun Kumar, M. F. Hammer, B. Greenspan, E. Elhaik

Background: The Genographic Project is an international effort aimed at charting human history using genetic data. The project is non-profit and non-medical, and through the sale of its public participation kits it supports cultural preservation efforts in indigenous and traditional communities. To extend our knowledge of the human journey, interbreeding with ancient hominins, and modern human demographic history, we designed a genotyping chip optimized for genetic anthropology research. Methods: Our goal was to design, produce, and validate a SNP array dedicated to genetic anthropology. The GenoChip is an Illumina HD iSelect genotyping bead array with over 130,000 highly informative autosomal and X-chromosomal SNPs ascertained from over 450 worldwide populations, ~13,000 Y-chromosomal SNPs, and ~3,000 mtDNA SNPs. To determine the extent of gene flow from archaic hominins to modern humans, we included over 25,000 SNPs from candidate regions of interbreeding between extinct hominins (Neanderthal and Denisovan) and modern humans. To avoid any inadvertent medical testing we filtered out all SNPs that have known or suspected health or functional associations. We validated the chip by genotyping over 1,000 samples from 1000 Genomes, Family Tree DNA, and Genographic Project populations. Results: The concordance between the GenoChip and the 1000 Genomes data was over 99.5%. The GenoChip has a SNP density of approximately (1/100,000) bases over 92% of the human genome and is highly compatible with Illumina and Affymetrix commercial platforms. The ~10,000 novel Y SNPs included on the chip have greatly refined our understanding of the Y-chromosome phylogenetic tree. By including Y and mtDNA SNPs on an unprecedented scale, the GenoChip is able to delineate extremely detailed human migratory paths. The autosomal and X-chromosomal markers included on the GenoChip have revealed novel patterns of ancestry that shed a detailed new light on human history. Interbreeding analysis with extinct hominids confirmed some previous reports and allowed us to describe the modern geographical distribution of these markers in detail. Conclusions: The GenoChip is the first genotyping chip completely dedicated to genetic anthropology with no known medically relevant markers. We anticipate that the large-scale application of the GenoChip using the Genographic Project’s diverse sample collection will provide new insights into genetic anthropology and human history.
View source

People of the British Isles: An analysis of the genetic contributions of European populations to a UK control population
S. Leslie, B. Winney, G. Hellenthal, S. Myers, P. Donnelly, W. Bodmer

There is much interest in fine scale population structure in the UK, as a signature of historical migration events and because of the effect population structure may have on disease association studies. Population structure appears to have a minor impact on the current generation of genome-wide association studies, but will probably be important for the next generation of studies seeking associations to rare variants. Furthermore there is great interest in understanding where the British people came from. Thus far genetic studies have been limited to a small number of markers or to samples not collected to specifically address these questions. A natural method for understanding population structure is to control and document carefully the provenance of samples. We describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK control population. This will be a resource for research community as well as providing fine-scale genetic information on the history of the British. Using a novel clustering algorithm, approximately 2000 samples were clustered purely as a function of genetic similarity, without reference to their known sampling locations. When each individual is plotted on a UK map, there is a striking association between inferred clusters and geography, reflecting to a major extent the known history of the British peoples. A similar analysis is performed on samples from different parts of Europe. Using the European samples as ‘source populations’ we apply a novel algorithm to determine the proportion of the genomes within each of the derived British clusters that are most closely related to each of the source populations. Thus we can observe the relative contribution (under our model) of each of these European populations to the genomes of samples in different regions of Britain. Our results strikingly reflect much of the known historical and archaeological record while raising some important questions and perhaps answering others. We believe this is the first detailed analysis of very fine-scale genetic structure and its origin in a population of very similar humans. This has been achieved through both a careful sampling strategy and an approach to analysis that accounts for linkage disequilibrium.
View source

Inferring Y Chromosome Phylogeny by Sequencing Diverse Populations
G. D. Poznik, P. A. Underhill, B. M. Henn, M. C. Yee, E. Sliwerska, G. M. Euskirchen, L. Quintana-Murci, E. Patin, M. Snyder, J. M. Kidd, C. D. Bustamante

The male-specific region of the Y chromosome (MSY) harbors the longest stretch of non-recombining DNA in the human genome and is therefore a unique tool that enables the tracking of migrations and inference of demographic history. We have sequenced 69 male samples from nine globally diverse populations, including three African hunter-gatherer groups. Due to inefficient selection, a relatively high mutation rate, and a small effective population size, the Y chromosome is particularly subject to drift. It has accumulated large expanses of highly repetitive sequence, which pose considerable challenge within a short read sequencing paradigm. To overcome this hurdle, we have built an informatics pipeline to reliably call Y chromosome alleles from moderate coverage short read shotgun sequence data. First, we defined a callability mask, learned from the mapping quality and depth of coverage patterns in the data, and then we tuned base-pair level quality control thresholds. Based on 13,000 provisional SNP calls, we inferred a tree of the 69 sequenced Y chromosomes. Using this tree, we then called individual genotypes for each SNP with a custom-built, phylogeny-aware, EM algorithm. With these high quality calls in hand, samples were assigned haplogroup labels using standard YCC nomenclature; 29 distinct named haplogroups were represented. We find that the maximum likelihood tree we construct recapitulates the extant Y chromosome phylogeny, thus confirming the fruits of decades of work based on ascertained SNPs. Further, we resolve a major long-standing polytomy by identifying a variant for which one haplogroup retains the ancestral allele, whereas its brother clades share the derived allele, thus indicating common ancestry and uniting the latter two branches. This finding has been confirmed by genotyping a larger panel. Finally, we estimate the MSY rate of mutation recurrence and the time to the most recent common ancestor of the sampled chromosomes.
View source

Dr Michael Hammer on archaic admixture

2012-10-30T11:03:00.000Z

I've had the pleasure of listening to two talks presented by Dr Michael Hammer at the Who Do You Think You Are? Live family history show in London in recent years. He is always a very entertaining speaker and has the knack of explaining difficult concepts in an easy-to-understand way. An after dinner talk that Dr Hammer presented at the African Genetics International Conference earlier this year has now been posted to YouTube. The talk is entitled "Beyond Eden: The Significance of Archaic Admixture in Africa". He explains the latest theories on early human origins and looks at the contributions made to our gene pool by archaic Neanderthal and Denisovan populations. Enjoy!

Shareholders sue Ancestry.com over proposed buyout

2012-10-27T22:11:00.001+01:00

Further to the announcement earlier this week that Ancestry.com was to be sold to the European equity firm Permira, it now transpires that Ancestry shareholders have sued the company and are contending that they will be "shortchanged" by the proposed $1.6 billion buyout.

Business Week reports that investor John Heck has "asked the court to block the buyout as currently proposed and to consider awarding damages and legal fees". They further comment that Heather Erickson, an Ancestry.com spokeswoman, "didn't immediately return an e-mail message seeking comment on the lawsuit".

The full story can be found here.

Debbie Kennett

Ancestry's autosomal test is now on general sale in the US

2012-10-26T14:35:00.001+01:00

Ancestry's new autosomal DNA test has now gone on general sale in the US. There was no official announcement other than a post last night on Ancestry.com's Facebook page. Ancestry initially offered free DNA tests to around 10,000 people in America in order to kickstart their testing programme. In the beta-testing phase the test was offered at the special price of $99 on a first-come first-served basis by invitation only. It is estimated that around 40,000 people were able to order the test at this price. The beta-testing was only actively advertised in the US. I was able to order the test from the UK but I know of no one else outside North America who has yet ordered the test. If you click on the DNA tab on Ancestry.co.uk you are taken to this page:

You then have to go to dna.ancestry.com on the US site which takes you to a big splash screen about the new test. For Ancestry.com subscribers in the US the test is being offered for $129. This is shown as a reduction on the usual price of $199 though the test has never been on sale at the higher price and Ancestry misleadingly do not make it clear that $199 is the standard price for non-subscribers. If you are in America and don't have an Ancestry subscription there are three options:

1) Buy the test without a subscription for $199
2) Buy the test with a 6-month Ancestry.com World Explorer subscription for $249
3) Buy the test with a six-month Ancestry.com US Discovery subscription for $189

Note, however, that as Peter Calver of Lost Cousins has pointed out, if you are in America, Canada or Australia it is currently much cheaper to order an Ancestry worldwide subscription from Ancestry.co.uk. The advertised six-month subscriptions in this new DNA deal are very expensive as it is possible to order an annual worldwide subscription from the UK site for around $218. However, if you order your subscription from the UK site you will probably not be able to order the DNA test. I would be interested to know if anyone in America who has taken out an Ancestry sub via the UK site has been able to order a test.

As you can see from the chart below, if you take the test and don't take out an Ancestry subscription your options are extremely limited. You will be able to see the names of your matches and contact them, but you will seemingly not have access to the trees of your matches so there will be no easy way to filter the matches to find the ones of interest.

CeCe Moore reports that she contacted Ancestry for clarification on this issue. The rep she spoke to was not sure of the answer but did suggest that the trees might be made accessible since "that is an important part of the service". However, Ancestry trees have never before been made accessible to non-subscribers and it seems to me unlikely that Ancestry will make an exception for people who have taken a DNA test, especially when they are selling the test as a loss leader with the aim of encouraging more people to take out a subscription.

There are probably many people who are still on the waiting list who did not received the invitation to order the test at $99. Ancestry have put a comment on their Facebook page that they will honour these invitations. Customers are asked to ring Ancestry's toll-free number 1-800-262-3787 to make the arrangements.

Ancestry subscribers outside North America are not currently able to place an order and it is not known when or if the test will be made available elsewhere. Although I was able to purchase the test from the UK during the $99 beta-testing period, as reported in a previous blog post, it appears that this is no longer possible. I have heard from people in Australia and Ireland who have been unable to order the test and I am sure the same situation will apply in the UK.

The Ancestry autosomal DNA test has a number of limitations compared to the rival products from Family Tree DNA and 23andMe. Ancestry do not currently allow customers to have access to their raw genetic data, though it has since been announced that this will be possible some time in 2013. Furthermore, Ancestry do not provide any details of the matching DNA segments. Without the segment data you have no way of identifying which segments have been inherited from a particular ancestor. Tim Janzen reported on the ISOGG list last night that he had rung Ancestry to ask about the segment data and was told "Ancestry.com might not do that, but that they might create an "opt in" option that would allow people to share the matching segment data if they are interested in doing so".

There are significant problems with the ethnicity percentages provided by Ancestry and this situation has yet to be resolved. If you are interested in having ethnicity breakdowns the most advanced test on the market is the new Geno 2.0 test from the Genographic Project. This test will also give you haplogroup assignments for mtDNA and, if you are male, for Y-DNA. The first results from the new Geno 2.0 test should be reported in the next few weeks. It is surely no coincidence that Ancestry have chosen to put their test on the market now rather than wait until the problems have been fixed as they will undoubtedly lose market share to the Genographic Project when the Geno 2.0 results start to become available, and reviews start to appear in the newspapers and the blogosphere.

The fact that Ancestry have restricted the test to North Americans is another significant disadvantage. I was told by an Ancestry representative that 99.9% of the database is in America. Although Americans will benefit from matching other Americans in the database, they are often much more interested in making connections across the pond, and it therefore seems very short-sighted to restrict the test to the American market. If the test is made available elsewhere it will now have much less appeal. It will be like trying to find a needle in a haystack wading through pages and pages of American matches in the hope of finding a match with someone from your own country where you will have some chance of finding the genealogical connection. At the moment Ancestry do not have any tool to filter matches by surname so you have to open up the tree for each match individually to check for surnames of interest. And of course you will only be able to see the trees of your matches if you retain your Ancestry subscription.

If you're thinking of doing an autosomal DNA test I cannot recommend the Ancestry DNA test in its present form, and especially with the geographical limitations of its database, unless of course you're like me and wish to experiment with every test that is available! If you are interested in learning about your health and traits you should take the 23andMe test. If you are looking for genealogical matches you should consider taking Family Tree DNA's Family Finder test. If you have already tested with 23orMe and/or FTDNA then the Ancestry test is only likely to be worthwhile in the short term if you are American or are seeking to make connections with lost relatives in America. In such a situation it is always worth casting the net as widely as possible. If you're particularly interested in having ethnicity percentages then the new Geno 2.0 test will be the best option. With the Geno 2.0 test you will be able to transfer your results to the Family Tree DNA database and participate in the many surname, geographical and haplogroup projects.

*Important update*
CeCe Moore has advised me of an important update regarding Ancestry DNA. She has spoken with another customer service rep today by the name of Jeremy. He told her that "Connect with your DNA matches" from the options chart does NOT mean that you will be able to contact them unless they contact you first. However, you will be able to see the match and review their family tree. So, non-subscribers WILL be able to see their matches' family trees, but they will NOT be able to initiate contact with them. CeCe has also been told that the test is now out of beta, but some features of the site are not (like an additional log in for people who have their test on your account and moving test results to a separate account).

What next for Ancestry.com?

2012-10-24T22:43:00.001+01:00

The big news in the family history world this week is the announcement that the genealogy website Ancestry.com is to be acquired for $1.6 billion by the European private equity firm Permira. It remains to be seen what effect this will have on the company. Ancestry's third quarter accounts were released today, which show that the company continues to make a healthy profit and, as of 30 September 2012, had around 2,020,000 subscribers. Within the genetic genealogy community we are wondering what impact this acquisition will have on Ancestry's DNA testing programme. In the official press release Ancestry and Permira stated the following:

There are no anticipated changes in Ancestry.com's operating structure. Ancestry.com's focus will continue to be on investing in content, technology and its user experience, expanding its product offerings in areas like DNA, and building the Ancestry.com brand and the family history category, all on a global basis. Ancestry.com will remain headquartered in Provo, Utah, with a continued large presence in San Francisco, Dublin, London and other international markets.

Ancestry started offering Y-chromosome DNA (Y-DNA) and mitochondrial DNA (mtDNA) tests in 2007 after acquiring the assets of the now defunct company Relative Genetics. These tests are no longer being actively marketed, and Ancestry have instead focused all their attention on their new autosomal DNA test which was launched in May 2012. It remains to be seen whether this test will be marketed outside the US. As I commented when I reviewed the test on this blog earlier this year, it is very much geared towards the American market with its emphasis on ethnicity percentages. The database is also 99.9% American and anyone who does not have Colonial American ancestry will gain little if any benefit from the test at present.

A significant drawback of the Ancestry autosomal test, in comparison with the equivalent offerings from Family Tree DNA and 23andMe, is that you are not able to access your raw genetic data and you are also not given any segment matching data. This makes it impossible to interpret your results in any meaningful way, and prevents you from uploading your results to third-party tools such as GedMatch for further analysis. I wrote to Ancestry about this problem in August. Other bloggers, including CeCe Moore and Judy Russell, have also been campaigning for Ancestry to make the raw genetic data available to customers. It is therefore gratifying that Ancestry have listened to the criticisms and have now announced that they will make the data available to customers some time in 2013.

However, the problems with Ancestry's admixture tools have yet to be resolved. My own documented ancestry, as far back as I can trace it, is all from the British Isles, yet according to the Ancestry test I am 58% Central European, 25% British Isles, 13% Eastern European and 4% unknown. I wrote about this aspect of the testing in more detail in a previous blog post. In contrast many of the Americans who are my genetic cousins have much higher percentages of "British" ancestry, despite having a large proportion of their documented ancestry from other European countries. For example, the American blogger Roberta Estes, who has also commented on the deficiencies of Ancestry's admixture results, reports that according to Ancestry she is 80% British Isles, 12% Scandinavian and 8% unknown. However, Roberta's genealogy research shows that only 22% of her ancestry is from the British Isles, with her remaining known ancestry being from a variety of different European countries. There is, of course, a perfectly simple explanation for these discrepancies. The ethnicity predictions are based on a very limited number of publicly available datasets from reference populations, and the sequences that are in the public domain often have little in the way of accompanying ancestral information. For those people of British ancestry more detailed analyses should be possible once the People of the British Isles Project start to publish their results later this year. Other companies are more open about the limitations of the tests and publish details of the reference populations they use. For example, Family Tree DNA use a population from the Orkney Islands as a proxy for British DNA. Ancestry unfortunately have not released details of the reference populations they are using for their calculations. They have access to the same public datasets as the other companies. In addition, Ancestry purchased the assets of the Sorenson Molecular Genealogy Foundation (SMGF) in March 2012, and may have access to data from the SMGF database. However, they almost certainly do not have any data from any large British reference populations and it seems that the most plausible explanation for the bizarre results that we are seeing from Ancestry is that their "British" populations are probably Americans from Salt Lake City with mixed European ancestry rather than people living in the British Isles like me with many generations of documented British ancestry.

We are all aware of the limitations of these tests, and there will no doubt be many improvements in the years to come as more reference populations become available allowing the companies to provide more accurate results. Ancestry's autosomal test is in any case still in the beta-testing phase as is FTDNA's Population Finder tool. I am, however, concerned that Ancestry are compounding the problem by presenting the data in a very misleading and dishonest way. A link was posted on the ISOGG Project Administrators' mailing list this week to a new video that is now available on Ancestry's YouTube channel.

In this presentation Ancestry's blogger Crista Cowan provides a somewhat dumbed down overview of the Ancestry autosomal DNA test. However, what is of most concern is that nowhere in the video does Crista admit the limitations of Ancestry's admixture result. Instead she is trying to suggest that the reason why people are getting these unexpected percentages is because they haven't yet researched all their family lines. In other words it is not Ancestry's fault but the customers' for not doing their research properly! We are supposed to believe, for example, that there was some significant migration from Germany to Scotland which might account for some of these unexpected results. I was told by an Ancestry rep that there might have been a large migration from Eastern Europe to account for the 13% of my DNA that is supposedly from Eastern Europe. This is all of course total nonsense. It might well suit Ancestry's purpose to encourage people to search for their phantom ancestors throughout Europe to explain their mysterious DNA results. They are undoubtedly selling their test at $99 as a loss leader and are hoping to make up the deficit by increasing their subscription revenue. It is in their interests to encourage people to renew their subscriptions and to reduce the churn level. I just hope that most people have the good sense not to be taken in by this misleading hype.

For anyone who has had unexpected results from the Ancestry test I would advise that you provide the company with feedback and, more importantly, ask them to publish the information about the reference populations they are using. If enough pressure is brought to bear on Ancestry then perhaps they will make this information available so that the admixture results can be put into context.