Genographic results from the UK

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

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

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

© 2012 Debbie Kennett

Family Tree DNA Conference 2012 - citizen science comes of age

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

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.

© 2012 Debbie Kennett

Extinct and endangered surnames

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.

© Debbie Kennett 2012

Family Tree DNA winter sale 2012

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

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

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

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

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).

© 2012 Debbie Kennett

What next for Ancestry.com?

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.

© 2012 Debbie Kennett