Sunday, 26 April 2015

Tracking DNA segments through time and space

One of the exciting aspects of autosomal DNA testing is that it gives us the opportunity of assigning segments of DNA to specific ancestors and then tracking the inheritance of those segments over time. To date the only match where I've been able to make the genealogical connection other than with immediate members of my family is with a fourth cousin, Mr K, who lives in Canada. I wrote previously about this match in my article on My first autosomal DNA success story. That match was very easy to identify because all my ancestors are in the UK and all Mr K's ancestors are in Canada and there was only one possible line where we could connect. It also helped that one of the shared surnames - Cruwys - is very rare. We can therefore state with confidence that the segment we share has been inherited from our ancestors William Cruwys (1793-1846) and Margaret Eastmond (1792-1874) who married in Rose Ash, Devon, on 18th July 1814.

I'd already tested my parents but one of my sons has now also taken the Family Finder test which gives me the opportunity to explore the inheritance patterns of these shared DNA segments in more detail.

In the screenshot below I've compared my dad with Mr K. They are third cousins once removed. They share three large segments in common: 20.12 centiMorgans on chromosome 1; 23.33 centiMorgans on chromosome 3 and 17.12 centiMorgans on chromosome 11.
Next I used the chromosome browser to compare myself with Mr K. Mr K and I are fourth cousins. You can see that two of the segments that my dad inherited have not been passed on to me and I only share a single segment on chromosome 11 with Mr K. This segment is 16.62 cMs and has been passed on virtually intact from my father to me.
The next screenshot shows a comparison with my son and Mr K. They are fourth cousins once removed. You can see that my son has inherited exactly the same segment as me. This segment measures 16.85 cMs and appears to be slightly larger in my son than it is in me, which is perhaps something to do with the rounding that FTDNA uses.
For all the above screenshots I've set the threshold at 5 cMs. Family Tree DNA are the only company who provide segment data under the 5 cM threshold. There has been much debate in the genetic genealogy community on the subject of small segments under 5 cMs, but there is a consensus that the vast majority of the small segments generated by the current chip tests are false positives and are nothing more than random noise. However, now that I have tested three generations of my family and we also have a match with a known cousin, I thought I would take the opportunity to do a comparison of the small segments to satisfy my own curiosity.

The screenshot below is taken from the perspective of my son, and I've set the threshold to 1 cM. The chromosome browser shows the segments my son shares in common with me, his maternal grandfather and his cousin Mr K. The segments shared with Mr K are shown in orange. The segments he shares with his grandfather are shown in green. The blue segments are shared in common with me. A child receives 50% of his DNA from his mother so my son matches me across the entire length of each chromosome. (Note that chromosomes come in pairs - we receive one set of chromosomes from our mother and one set of chromosomes from our father. However, the chromosome browser shows matches on a single chromosome and is unable to identify whether the match is on a maternal or a paternal chromosome.) There are 13 small segments that my son appears to share with Mr K. However, ten of these segments are seemingly shared by me, my son and Mr K but are not shared with my father. Clearly this is a biological impossibility because if a segment is identical by descent (IBD) then by definition it must have been passed on from a parent to a child and it couldn't possibly skip a generation. There are tiny segments on chromosome 6, chromosome 10 and chromosome 16 that are shared by all of us and these segments are therefore more likely to be IBD.

There have been suggestions that the process of triangulation (identifying three or more segments which match on the same chromosome) confirms that the segments are "real" or in other words that they are identical by descent (IBD). In this case the 13 small segments all triangulate with three people - me, my son and Mr K. However, when my dad is added to the mix we can see that the triangulation process breaks down. If the small segments were IBD then my dad should match on all of these small segments.

In the future when whole genome sequencing becomes the norm it should be possible to use small segments for genealogical matching purposes but with the limitations of the current technology extreme caution should be used when drawing conclusions about matches on small segments.

Further reading
The ISOGG Wiki article on identical by descent has further information on this subject:


There have been a number of blog posts that have dealt with the subject of small segments and they are all linked on the ISOGG Wiki page. I particularly recommend reading the following:


- Genealogy and autosomal DNA matches: common errors in “proving” an ancestor, and the allure of easy gateway ancestors by "Our Puzzling Past"

- Chromosome Pile-Ups in Genetic Genealogy: Examples from 23andMe and FTDNA by "Our Puzzling Past"



- What a difference a phase makes by Ann Turner (a guest post on Blaine Bettinger's blog)

Disclosure
I received a free DNA test from Family Tree DNA in compensation for speaking at Who Do You Think You Are? Live in 2014. I chose to have a Family Finder which I used to test my son.

© 2015 Debbie Kennett

Saturday, 25 April 2015

Who Do You Think You Are? Live 2015 in Birmingham

Last week I attended the big Who Do You Think You Are? Live show at the NEC in Birmingham. WDYTYA is now the biggest event in the genealogical calendar in the UK. It provides an opportunity to catch up with all the latest developments in the genealogical world, attend a variety of lectures on a wide range subjects, and meet up with DNA and genealogy friends from around the world. WDYTYA has been held at Olympia in London since its inception in 2007 but was being held for the first time this year in Birmingham so I was interested to see how it would work out in a different venue.

On a personal level London is a much more convenient location for me as I can travel to and from London in a day and go back home to see my family in the evening. Birmingham is too far away to make a daily commute practical so I booked into a hotel a few miles from the NEC with a few friends and we drove to and from the NEC every day (many thanks to James Irvine who was our ever-patient chauffeur!). WDYTYA was held in Hall 2 which is conveniently located for public transport right next to the train station. For those arriving by car, the NEC has a massive car park. Exhibitors receive a free car park pass, but otherwise the fee is £12 per day. The parking is some way from the hall so you have to catch one of the buses to take you to the venue. For overseas visitors Birmingham Airport is close by. However, the journey was much more difficult for visitors from North America because there are fewer direct flights and also the flights tend to be more expensive than direct flights to London. Having to catch connecting flights also creates problems. There were a few nervous moments on Wednesday when friends from America arrived in Birmingham but with their suitcases stranded in Frankfurt and Paris. Fortunately all was well and their luggage was safely delivered to their hotels later that evening.

The NEC lacks the character of Olympia and it is also in the middle of a big industrial estate with no amenities within walking distance other than some rather expensive hotels whereas at Olympia there is a range of restaurants nearby and Kensington High Street is within easy reach. However, there are advantages in having a purpose-built exhibition centre. The hall was spacious with wide aisles making it much easier to move around, and there were good catering facilities with plenty of seating. The official attendance figures have not yet been released but the general consensus was that the numbers were probably down on last year. Last year the attendance was just over 13,000, but I would guess there were probably around 10,000 this year at the NEC. However, it may be that because of the size of the hall the crowds were more diluted and that there were more visitors than I've estimated. At Olympia there always seemed to be a steady stream of visitors throughout the course of the day whereas at the NEC the mornings were busy and then there seemed to be a lull by early afternoon. Apparently the reason for the afternoon lull was that there were a number of coach trips to the show and the coaches set off early in the morning and left early to avoid the rush hour.

This year I gave three talks at WDYTYA. On Thursday I was in SOG Studio 2 giving my presentation on "The Joy of Surnames". The advance tickets for my talk had already sold out and I had a packed studio with standing room only at the back. I hope that I will have inspired a few people to think about starting a one-name study, and perhaps even to buy a copy of my Surnames Handbook. I understand that there was a rush on the Guild of One-Name Studies stand after my talk with lots of people wanting to claim their free map of their surname from Steve Archer's Surname Atlas CD! I used a number of maps from this wonderful CD to illustrate my talk. The handout for my talk is available on the Society of Genealogists' website, along with the handouts for a number of other talks in the various SOG workshops.
A big crowd for my talk on "The Joy of Surnames". Photo courtesy of Julie Goucher.
Family Tree DNA once again sponsored the DNA workshop. For the second year running ISOGG (the International Society of Genetic Genealogy) were tasked with the responsibility of organising the DNA lecture schedule. I had the great pleasure of working with Maurice Gleeson to bring together an excellent selection of speakers for what I think was the best ever DNA programme at WDYTYA. We had a good balance of speakers from the worlds of academia and genetic genealogy. Maurice did a superb job chairing the sessions throughout the course of the three days, and Joss Le Gall did a magnificent job shepherding people into the talks. Most of the DNA talks were recorded and will eventually be available on the WDYTYA DNA Lectures YouTube channel. A brief introduction to the DNA workshop programme can be found below.

On Friday I gave a talk in the DNA workshop on "DNA for beginners". This lecture is now available on YouTube. I had to do a new recording of the presentation as there were technical problems with the recording that was done on the day. You can now watch it by clicking on the image below.
   
My final talk on Saturday was "I've got my autosomal DNA results but what do I do next?" and that recording is already available on YouTube. There were a few technical glitches in my presentation when the slide presenter freezed up and I had to get a replacement, but the recording itself has come out reasonably well despite all the background noise.

Turi King's lecture on Richard III was by far and away the most popular of the DNA talks. The story of the discovery and identification of Richard III is fascinating in its own right but Turi is also a highly entertaining speaker. This lecture has not been recorded for copyright reasons but if you did miss her talk she will speaking in June at the Cheltenham Science Festival.
Turi King on the discovery of Richard III.
Professor Mark Jobling from Leicester University gave a fascinating talk on "Fishing for Vikings in the Gene Pool" using a combination of evidence from DNA, surnames and place names. We also learnt that Jon Wetton at Leicester has been analysing the Y-DNA and mtDNA data from the People of the British Isles Project, and we were given a sneak preview of the maps. There were 112 mtDNA SNPs on the Affy chip used for the study and 365 Y-chromosome SNPs. There was little variation in the distribution of mtDNA, but some evidence of regional variation for the Y-DNA distribution, with Devon and Cornwall in particular standing out as distinct regions. This talk was again not recorded.
Professor Mark Jobling goes fishing for Vikings in the gene pool.
My colleague Professor Mark Thomas at UCL gave a thought-provoking talk on the interpretation of haplogroup information and the importance of using the scientific method. This talk has been successfully recorded and is highly recommended. It is now available on the YouTube channel.
 

Professor Mark Thomas talking about the scientific method.
Photo courtesy of Katherine Borges.
I also particularly enjoyed the talks by Garrett Hellenthal on the People of the British Isles Project and Maarten Larmuseau on DNA and surnames in the Low Countries so do watch these if you get a chance. I missed John Cleary's talk on next generation sequencing and the Y-chromosome but I'm told that he gave an excellent presentation and I'm looking forward to watching this. Cathy Swift from the University of Limerick was scheduled to talk on the subject of Irish surnames but she had to cancel at the last minute because of a domestic crisis. However, she has kindly recorded her presentation and this will eventually be made available on YouTube.

On Friday I was honoured to be invited by Else Churchill of the Society of Genealogists to join the expert panel for Dick Eastman's keynote lecture. The other panellists were Ron Arons, the author of Mind Maps for Genealogy, and Paul Howes, the new Chairman of the Guild of One-Name Studies. Dick Eastman gave us a comprehensive overview of Evernote. I've not yet tried to use Evernote, but Dick was a very convincing speaker and has made me determined to try it out. One particularly interesting feature of Evernote is that it has a free tool for OCR (optical character recognition). We had some interesting panel discussions on the preservation of data, and I also answered a question on how DNA is changing our research and how it will impact our research in the future. Dick Eastman came up to me later and thanked me for my answer so I must have said something right!

I have to say that the lecture spaces at the NEC were not ideal. At Olympia the Celebrity Theatre was a proper lecture theatre in an enclosed room. At the NEC the celebrity lectures were in Studio 1 which was simply a screened off area of the main hall, and unfortunately the sound of the clapping from the studio drifted through into the DNA workshop area. At Olympia there was also an upstairs lecture theatre which benefited from being away from the noise of the crowds below. At the NEC the other three workshop studios were all in the main hall. SOG Studios 3 and 4 were opposite each other so again the sounds drifted through from one studio to the other. The big names will always attract big crowds, and some of the lectures were packed to capacity with standing room only at the back. However, some of the other lectures were very poorly attended with only about a third or half of the seats taken. In contrast, although the DNA lecture area was smaller than the SOG workshops, many of our lectures were completely full with rows of people standing at the back. If the attendance is down as I suspected then I wonder if it might be better next year to have fewer lecture studios but with improved soundproofing.

ISOGG once again had a stand at WDYTYA Live. James Irvine kindly loaned all the furniture, and Barbara Griffiths did a magnificent job compiling the material for the display. James and Barbara were helped by a number of other ISOGG members including Sue Curd, Dick Kenyon, and John and Ann Blair. Copies of Emily Aulicino's book Genetic Genealogy: The Basics and Beyond were also available on the ISOGG stand.
The ISOGG stand at WDYTYA.
There were four DNA companies with a presence at WDYTYA this year. Family Tree DNA were back for the seventh year running, and once again sponsored the DNA workshop. They were doing a steady trade on their stand throughout the three days.
A busy FTDNA stand at WDYTYA.
AncestryDNA launched their autosomal DNA test in the UK in January this year and had a big presence at the show. The AncestryDNA test was on sale for £79 (the usual price is £99 plus £20 shipping) though this is still more expensive than the Family Finder test, the equivalent offering from Family Tree DNA, which was being sold for £65. AncestryDNA were also giving away a number of free kits in the demo talks on their stand. Sir Tony Robinson gave two talks in the SOG workshop on his AncestryDNA test with the help of Cathy Ball and Brad Argent from AncestryDNA. Despite being scheduled right at the end of the day he spoke to a full house on both occasions.
Sir Tony Robinson and Cathy Ball from AncestryDNA.
A busy AncestryDNA stand at WDYTYA.
A new company Osarge News were selling DNA tests which are targeted at the African Diaspora. One of their offerings is called the Global Match Test. This is in fact a new incarnation of the old DNA Tribes test. Following the death last year of Lucas Martin, the owner of DNA Tribes, the test has now been licensed to DNA Diagnostics Centre who have in turn licensed it to Osarge News. Osarge News are also planning to sell the DNA GPS test developed by Dr Eran Elhaik of Sheffield University and were taking pre-orders at the show. Dr Elhaik gave a presentation entitled "Reaching the Holy Grail in genetic genealogy: from genome to home village" in one of the SOG workshops where he explained how the test works. His test seems to be almost identical to the one offered by Prosapia Genetics. I wrote about the problems with the Prosapia sat nav test last year, and I have the same concerns about this new GPS test. Essentially the test gives you a single geographical co-ordinate which is supposed to represent the location of all your ancestors one thousand years ago. There are plans for a new GPS 2 test which is designed for people with two parents from different countries which will presumably give you two co-ordinates instead of one, and there will also be a GPS 4 test for people with four grandparents born in different countries. The test uses reference populations from living people and makes the assumption that people who live in a location today are representative of the population who lived in the same place one thousand years ago. However, if you go back one thousand years we all have millions and millions of ancestors, and, as was pointed out by Mark Thomas in the Q&A session, humans have a habit of moving around so it seems highly unlikely that there is a single person in the world whose millions and millions of ancestors one thousand years ago all came from the same place. In any case it seems quite meaningless to have a single co-ordinate to represent so many different ancestors.

The fourth DNA company at WDYTYA were BritainsDNA who were selling their Chromo 2 test.

23andMe relaunched their health reports in the UK in December 2014 and now have a dedicated UK website, and it was therefore surprising that they did not have any presence at WDYTYA. However, Joanna Mountain from 23andMe gave a presentation in one of the SOG workshops on "Case studies in genetic genealogy".

The BBC were at WDYTYA on Thursday doing interviews for a forthcoming Radio 4 documentary on genetic ancestry testing to be presented by Adam Rutherford.
Adam Rutherford interviews Bennett Greenspan of
Family Tree DNA for a forthcoming BBC radio programme.
Photo courtesy of Katherine Borges.
S4C, the Welsh-language TV station, were filming at WDYTYA on Friday for the forthcoming series "Who are the Welsh". I'd previously criticised this programme on my blog, and I had a delegation of people from S4C coming to see me at the end of the day on Friday. We had a very lively and animated discussion, but I will reserve my judgement until I've seen the remaining programmes in the autumn.

In a quiet moment before the doors opened to the public on Friday I was delighted to catch up with Rebecca Probert. Rebecca was one of the speakers at the Lost Cousins Genealogy in the Sunshine conference in March, and her presentations were for me the highlight of the conference. She gave two of these presentations at WDYTYA Live: "Divorced, Bigamist, Bereaved?" and "The Life and Times of An Army Wife in the Peninsular War". Anyone who attended these presentations would have been in for a real treat. Rebecca's Peninsular War talk relates the moving story of Catherine Exley, the wife of a serving soldier in the 34th Regiment of Foot, who went out to Spain and Portugal with her husband. The talk resonated with me in particular because Catherine was present at some of the same battles - Albuera, Salamanca, and Vittoria - as my great-great-great-great grandfather David Tidbury who was a solider with the Royal Welch Fusiliers (the 23rd Regiment of Foot). On her return to England Catherine learnt to read and write and subsequently wrote a memoir about her experiences. This is believed to be the only surviving memoir written by the wife of a serving soldier. Rebecca was selling Catherine Exley's Diary: The Life and Times of an Army Wife in the Peninsular War on her stand at WDYTYA so I took the opportunity to buy a copy along with a copy of her new book Divorced, Bigamist, Bereaved? The Family Historian's Guide to Marital Breakdown, Separation, Widowhood, and Remarriage: from 1600 to the 1970s. I shall look forward to reading both titles.

I unfortunately missed the genealogy tweet ups organised by Celia Heritage as they either coincided with my talks or I was busy answering DNA queries. However, I did manage to catch up briefly with some of my fellow tweeters including Emma Jolly, Jackie DepelleRosemary Morgan, and Valmay Young.
Jackie Depelle aka the "hat lady".
At the beginning and end of each day I called in on the Guild of One-Name Studies stand to catch up with my friends and fellow Guild members. I spotted amongst others Corrinne Goodenough, Julie Goucher, Janet Few, Chris Braund, Cliff Kemball, Paul Howes, Polly Rubery, Paul Featherstone and Susan Hundleby working hard on the Guild stand and dealing with enquiries. The Guild stand was one of the busiest in the whole show, and they managed to sign up a record-breaking number of new members this year.

The Devon Family History Society also seemed to be doing a roaring trade.
The Devon Family History Society at Who Do You Think You Are? Live.
There are certain benefits in moving WDYTYA to a new venue and the show certainly attracted a different audience and made it possible for people from the North and the Midlands to attend who previously found the journey to London too difficult. It has already been confirmed that WDYTYA will be back in Birmingham from 7th to 9th April 2016. I look forward to seeing everyone next year!

Further reading
A number of other bloggers have written about WDYTYA and I've provided a selection of links below:

- A report from Else Churchill of the Society of Genealogists: http://www.sog.org.uk/news/article/wdytyalive-move-to-birmingham-a-great-success

- A review from Chris Paton: http://britishgenes.blogspot.co.uk/2015/04/who-do-you-think-you-are-live-2015.html

- Dick Eastman on Day 1 of WDYTYA: http://blog.eogn.com/2015/04/16/who-do-you-think-you-are-live-in-birmingham-england-day-1/

- Dick Eastman on Day 2 of WDYTYA: http://blog.eogn.com/2015/04/17/who-do-you-think-you-are-live-in-birmingham-england-day-2/

- Dick Eastman on Day 3 of WDYTYA: http://blog.eogn.com/2015/04/18/who-do-you-think-you-are-live-in-birmingham-england-day-3/

- Janet Few on Thursday at WDYTYA: https://thehistoryinterpreter.wordpress.com/2015/04/16/a-day-at-who-do-you-think-you-are-live

- Janet Few on Friday at WDYTYA:  https://thehistoryinterpreter.wordpress.com/2015/04/17/friday-at-who-do-you-think-you-are-live

- Janet Few on Day 3 at WDYTYA: https://thehistoryinterpreter.wordpress.com/2015/04/18/mistress-agnes-gets-dated-day-three-at-who-do-you-think-you-are

- Learn a Little  Every Day blog:
  https://learnalittleeveryday.wordpress.com/2015/04/26/whodoyouthinkyouarelive-6-key-points

- Barbara Griffiths - Other activities; the genealogy do-over interlude Barbara includes reports from WDYTYA and also from the Guild of One-Name Studies annual conference in March

- A US perspective from Emily Aulicino:http://genealem-geneticgenealogy.blogspot.co.uk/2015/05/who-do-you-think-you-are-live.html

- Hilary Gadsby compares Rootstech and WDYTYA Live: http://worldwidegenealogy.blogspot.co.uk/2015/05/a-comparison-of-genealogy-conferences.html

Hilary also shared her experiences at WDYTYA with Dear Myrt on Mondays with Myrt on 20th April. Hilary's segment is right at the beginning of the programme.


If you know of any other good reviews do let me know and I'll add them to the list.

© 2015 Debbie Kennett

Saturday, 7 March 2015

More on the S4C DNA Cymru controversy and my review of "Who are the Welsh?"

I wrote last week of my concerns over the programme Who are the Welsh which was broadcast last Sunday evening on the Welsh language TV station S4C. It is the first chapter in a series of programmes on Welsh DNA (DNA Cymru) with the remaining programmes scheduled to be broadcast in the autumn. I had intended to watch the programme live but unfortunately while BT were in the process of trying to fix our phone line we lost our internet connection. Our internet was finally restored on Thursday and I've only now had a chance to catch up on the programme, and to investigate in more detail the issues involved.

DNA Cymru is billed on the S4C website as being part of a "groundbreaking project" undertaken in partnership with the "successful Scottish research company responsible for ScotlandsDNA". ScotlandsDNA is one of the trading names of the various websites operated by the Moffat Partnership. The other websites include CymruDNAWales, BritainsDNA, IrelandsDNA, YorkshiresDNA and IzzardsDNA. However, the Moffat Partnership is not a "research company" but a for-profit company. There is no evidence of any research activities from the company. There have been similar "projects" before, particularly in Scotland, which have generated a lot of media coverage over the last few years but these "projects" appear to be nothing more than marketing exercises. There has so far not been a single paper published in a scientific journal and no results have ever been presented at a scientific conference. Many of the exaggerated claims emanating from BritainsDNA and ScotlandsDNA would in any case be unlikely to stand up to scientific scrutiny.

S4C is a Welsh-language public service broadcaster funded by taxpayers' money and it has a statutory duty to ensure impartiality and fairness. The S4C programme guidelines state: 
S4C’s ability to ensure due impartiality and fairness in its services is essential in order to retain its credibility as a public service broadcaster. The viewing public must be able to have faith in the integrity and objectivity of S4C’s programmes and services at all times. It is vital to S4C’s credibility and reputation that its viewers can be sure that any outside activities or interests of Faces and Editorial Persons (as defined in section 3 below) will not in any way undermine S4C’s impartiality or integrity and that editorial decisions are not influenced by any conflict of interests. These guidelines aim to ensure that S4C’s impartiality and integrity are not compromised or perceived to be compromised. At the same time, S4C wishes to avoid imposing unnecessary or disproportionate restrictions on its Faces or Editorial Persons and will apply these guidelines in a way which ensures this.
S4C introduced new product placement guidelines in February 2011, and product placement and commercial references are now permitted in some programmes. However, the guidelines make it clear that such arrangements should not influence editorial decisions:
S4C’s principal concern as a public services broadcaster is protecting and maintaining the editorial independence and integrity of its programmes. The viewing public must be able to have faith in the objectivity of S4C’s programmes and services at all times. It is vital to S4C’s credibility and reputation that its viewers can be sure that any product placement is not unduly prominent or promotional so as to undermine S4C’s impartiality or integrity and that editorial decisions are not influenced by any conflict of interests.
It is therefore a matter of some concern that S4C has been used as a vehicle to promote a non-scientific project which is designed purely to generate sales of DNA kits for the Moffat Partnership. The entire programme seemed to be nothing more than an extended advertorial. Viewers were told that the DNA tests are "available to everyone regardless of family background or how recently you've come to Wales". However, to participate in the "project" viewers were encouraged to pay for a very expensive DNA test from CymruDNAWales, one of the websites run by the Moffat Partnership. The screenshot below is taken from the S4C DNA Cymru website which has been set up to promote the programme.


Clicking on the red link takes you straight through to the Moffat Partnership's CymruDNAWales website where you can read their terms and conditions and go on to explore the website and order a DNA test. There are currently only two main tests advertised on the website - the Chromo 2 Complete test for males which costs £250 and the Chromo 2 Complete mtDNA test for females which costs £220.1

The Moffat Partnership are of course not the only company offering genetic ancestry tests. For details of alternative testing companies and comparison charts for the currently available tests see the list of DNA testing companies in the ISOGG Wiki. Nearly all of these companies offer equivalent or more advanced tests and often at much lower prices. However, the programme failed to mention any of these alternative testing options. It would be interesting to know if any of the other companies had been approached to tender for the DNA Cymru "project".

The programme also failed to mention any of the legitimate ongoing scientific research that might be of interest to the people of Wales. For example, the People of the British Isles Project (POBI), based at the University of Oxford, is a real groundbreaking scientific research project which is due to publish a major paper in the next month or so. The POBI researchers have been able to detect genetic differences between the people of North and South Wales and also possible signals of "Little England" in Pembrokeshire. The Impact of the Diasporas is a major five-year research project at the University of Leicester focusing on the "cultural, linguistic, and genetic interactions between peoples known to history as ‘Celts’, ‘Britons’, ‘Anglo-Saxons’, and ‘Vikings’". There is also a project at Oxford University led by Dr Ceiridwen Edwards which is using ancient DNA to investigate "mass migration and apartheid in Anglo-Saxon Britain".

So what did the programme itself actually cover? The first half of the programme provided a very dumbed down and and at times inaccurate version of the human story. There was a lot of loud music that might have been more appropriate in an advertisement for after shave, and brooding shots of bearded men and long-haired women dressed up in cloaks and furs, and often riding on horses.

There were some rather nice graphics which were used to explain some of the basic DNA concepts such as haplogroups (populations groups which share a common genetic line of descent). However, the programme's researchers seemed to be completely unaware of all the recent advances in ancient DNA testing which is now helping to transform our knowledge of the past. It was mistakenly claimed that "by identifying where haplogroups are common today we can estimate where they came from in the past" yet we know from ancient DNA testing that the distribution of haplogroups even a few thousand years ago is very different from the present-day distribution.2

The whole premise of the "project" is deeply flawed because the researchers are only using Y-chromosome DNA and mitochondrial DNA which, as was stated on the programme, comprise only 2% of our total DNA. While Y-DNA and mtDNA tests can be very useful for genealogical purposes because of the lack of recombination, they become increasingly less meaningful as you go further back in time and can only ever represent a small fraction of the total ancestry of the human population, and consequently can tell us very little about our ancient origins.

The second half of the programme featured Welsh celebrities receiving their DNA results from CymruDNAWales. They were regaled with the usual fanciful and unscientific haplogroup stories that will be familiar to anyone who has been following the BritainsDNA saga. The stories given to the celebrities looked as though they were identical to the reports that are given to ScotlandsDNA/BritainsDNA customers. 

The weather forecaster Sian Lloyd told viewers that she desperately wanted to be Welsh. She was found to belong to haplogroup T2a1a (the "foragers!") and was told that she was related to Tsar Nicholas II and four British kings. It was not explained to her that the test she took only represented her matrilineal line (the line of her mother, her mother's mother, her mother's mother's mother...), which represents only a tiny proportion of her total ancestry. There is in any case no DNA test which can determine your nationality and there never will be because we are all such a complex mix. The testing that was done on the remains of Tsar Nicholas II was a very low resolution test which was only able to determine that the base haplogroup was T2. The shared mtDNA ancestry is likely to go back many thousands of years and is therefore quite insignificant.

Dafydd Iwan, the former president of Plaid Cymru, was informed that he had a newly discovered marker (SNP) known as S300 which had been been labelled as "Ancient Welsh" and which the programme's "experts" believe denotes a "quintessentially Welsh haplogroup". We were told that S300 is supposedly found in only about 3% of Welsh people and a few people in England. ScotlandsDNA/BritainsDNA use a proprietary naming system for most of their markers and they precede many of their marker names with the letter S. Many of these markers are more commonly known by alternative names. S300 is not a newly discovered marker. S300 is more commonly known as L371 and was added to the ISOGG SNP tree back in March 2011.

Gareth Edwards, the rugby player, was told that his Y-DNA haplogroup is I-M253 Tiwtonaidd (Teutonic) and that his motherline was H2a2a1 and shared a genealogy with the "pioneers". Bryn Terfel, the opera singer, was informed that his Y-DNA haplogroup was I-S2606 which was given the nickname Rhinelander and is supposedly most common in Scandinavia.

The silly nicknames given to the haplogroups in the programme are a particular feature of the reports provided with the Chromo 2 test. However, there is no scientific justification for the use of these nicknames, and the implied association with historical groups is highly misleading. A full list of the haplogroup names used for the Chromo 2 test can be found here.

I was unable to translate the Welsh job titles in the list of credits at the end of the programme but, not surprisingly, I did not spot the names of any geneticists or historians. Dr Jim Wilson, the Chief Scientific Officer of ScotlandsDNA/BritainsDNA, was notable by his absence despite the fact that Llion Iwan, the Commissioner of Factual Content for S4C, had previously stated that Dr Jim Wilson was the chief scientist of the DNA Cymru project. Perhaps Jim Wilson is wisely trying to distance himself from his association with the company. He has already had his name removed from a book that he was previously scheduled to write with his business partner Alistair Moffat. The book The British: A Genetic Journey was published at the end of 2013 with Alistair Moffat listed as the sole author.

I cannot understand how such a programme ever got the go ahead. The embarrassing lack of science and the blatant promotion of a commercial company reflect very badly on the credibility of S4C as a public service broadcaster. The controversy has been highlighted in an article in the current issue of Private Eye Magazine (No. 1387, 6 March - 19 March 2015) which investigates the latest "hokum science" from "self-styled 'genetics expert' Alistair Moffat". Private Eye asks "How does the former journalist and TV executive get away with another commercial undertaking dressed as proper collaborative science?" They go on to speculate "Looks like he has again used his old boys' network, just as he did at the BBC. Ian Jones, chief executive of S4C, happens to be a mate."

The BBC have also clearly not learnt any lessons because they promoted DNA Cymru on two occasions last weekend though for once it was not Alistair Moffat who was being interviewed. Conveniently, Jason Mohammed, one of the presenters of the DNA Cymru series, hosts his own show on BBC Radio Wales, and he promoted DNA Cymru in his show on Friday 27th February. Jason interviewed John Geraint, the series producer, and Gareth Edwards, one of the celebrities who appeared on the programme. John Geraint inaccurately stated that there was "a lot of science" in the programme. He did acknowledge that a commercial company was being used but mistakenly claimed that the company could identify "where that individual's ancestral DNA comes from". The Jason Mohammed show is available on the BBC iPlayer. The relevant segment starts at around 38 minutes.

On Sunday 1st March Anwen Jones, another of the DNA Cymru presenters, was invited onto the Roy Noble show on BBC Radio Wales. Anwen Jones gave Roy Noble his DNA results on air and regaled him with some silly stories about his haplogroups. His Y-DNA haplogroup was G-Z759 which he was told was "Ancient Caucasian" (this is another one of the BritainsDNA haplogroup nicknames). His subhaplogroup is G2a which we were told represents the first people to bring farming to Europe though it is ludicrous to speculate that all the first farmers belonged to a single haplogroup. Roy Noble was then told that his mtDNA is haplogroup H1 which is given the nickname "Western refuges". He was told that H1 is from the Pyrenees and was possibly spread around Europe by Beaker folk. However, it is not possible to determine the origins of haplogroups in such a simplistic way and to associate their spread with specific cultures. The Roy Noble programme is also available on the BBC iPlayerThe relevant segment starts at around 1 hour 4 minutes.

It is very disappointing to see public service broadcasters being used to promote an individual's commercial venture, and even more so when that venture is disguised as a scientific research project. The almost total lack of credible science and the silly romanticised haplogroup stories serve to mislead the public about what genetics can and can't tell us about our ancestry. Such programmes undermine the work of serious scientists working in the field and also the efforts of genetic genealogists who are using DNA testing for legitimate purposes in combination with traditional genealogical sources. S4C should be ashamed of themselves.

Update 9th March 2015
Two more critical articles have been published about the DNA Cymru programme since I wrote this post.

- My colleague at UCL Professor Mark Thomas was interviewed by BBC Radio Wales and described the programme as an "embarrassment to science": http://www.bbc.co.uk/cymrufyw/31708205

- A blogger by the name of Jack o' the North independently came to the same conclusions as me about the commercial nature of the programme: http://jacothenorth.net/blog/are-you-welsh-ill-tell-you-for-250/

Update 10th March 2015
- The controversy over the DNA Cymru programme was discussed on S4C news (in Welsh) on 9th March. The segment starts at 5 minutes 39 seconds: http://www.s4c.cymru/clic/c_level2.shtml?programme_id=523846365

- There was also a lengthy discussion (in Welsh) on the current affairs show ‘Dan yr Wyneb’ on Radio Cymru on 9th March: http://www.bbc.co.uk/programmes/b054v7pj

Update 13th March 2015
The Raw Y-DNA test has now been restored to the product menu.

Related blog posts
- The saga continues - CymruDNAWales, S4C, the Tudor surname and "Who are the Welsh?"
My review of DNA Cymru Part 2 - the controversy continues
- My thoughts on DNA Cymru Part 3 and the significance (or lack thereof) of large genetic clusters

Footnotes
1. The Moffat Partnership previously used to offer a standalone Chromo 2 Y-DNA test for £189 and a Raw Y-DNA test for £129 which provided the raw data without the interpretative reports. A genetic genealogist friend advises me that he has been told that the Raw Y-DNA test is still available but you currently have to e-mail the company to place an order. He was told that they have recently updated their website and the Raw Y-DNA product will eventually be put back on the website.

2. For a good summary of the potential of ancient DNA testing and the limitations of Y-DNA and mtDNA testing for deep ancestry, see the paper by Joseph Pickrell and David Reich "Towards a new history and geography of human genes informed by ancient DNA".

© 2015 Debbie Kennett

Thursday, 26 February 2015

The saga continues - CymruDNAWales, S4C, the Tudor surname and "Who are the Welsh?"

A genetic astrology alert has been issued for Sunday evening in Wales. I have received reports that S4C, the publicly funded Welsh language TV station, is scheduled to broadcast a programme at 8.00 pm entitled "Who are the Welsh?". This is another venture involving Alistair Moffat, the Managing Director of the Moffat Partnership, a company which offers genetic ancestry testing through its BritainsDNA, ScotlandsDNA, IrelandsDNA and CymruDNAWales websites. He is also the former Rector of St Andrew's University and has the unique distinction of being the only Rector in the university's entire history who was not nominated for an honorary degree. Readers of this blog will be well aware of the ongoing BritainsDNA saga which we have documented at length on our UCL Debunking Genetic Astrology website. The latest development in the saga follows a familiar pattern. Once again it would appear that tax payers' money is being used to promote a commercial company which has been disguised as a "scientific" research project. Not surprisingly it turns out that Ian Jones, the CEO of S4C, who commissioned the programme, is an old friend of Alistair Moffat's. A trailer for the programme can be seen here:


S4C have a dedicated website for CymruDNAWales where Alistair Moffat introduces the project in his usual florid prose:
Using the most advanced DNA testing in the world, we will replace myth-history, wish-fulfillment and folk tales with scientific facts. By sampling the DNA of the modern population of Wales we can trace the story of an ancient people far beyond written records, back into the darkness of prehistory, right up to the retreat of the ice and the coming of the pioneers, the first to see the familiar landscape of the old land for more than 14,000 years.
In order to participate in the "project" it is necessary purchase a commercial DNA test from the Moffat Partnership who are described as the "science experts in this project".

In anticipation of the programme Sense About Science have issued a Welsh-language version of their pamphlet on Sense About Genetic Ancestry. For details see here:

http://www.senseaboutscience.org/news.php/434/welsh-translation-of-sense-about-genetic-ancestry-testing-ahead-of-s4c-documentary

The programme has already generated controversy before it has even been aired because of the commercial interests involved and the unscientific claims that have already been made by CymruDNAWales. A critical blog has been published in Welsh in which the author claims that S4C were aware of the concerns of scientists but chose not to reveal them to the audience. The blog can be read here:

https://syndod.wordpress.com/2015/02/25/dna-cymru-s4c/#more-7

If you use Google Chrome it will automatically translate the text into English and you should be able to pick up the gist of the article.

The Welsh news website golwg360 reported on the concerns raised in the blog post and have published a response from Llion Iwan, Commissioner Factual Content for S4C. He claims that the "project" has "consulted widely with academics and experts in history, archaeology and the biosciences, in a number of respected organizations across the UK". You can read the article here:

http://www.golwg360.com/newyddion/cymru/178817-blog-yn-codi-amheuon-am-raglen-am-dna-y-cymry

We will have to reserve judgement until we've seen the programme and we find out who these "experts" are.

However, the coverage that CymruDNAWales generated in the Welsh press when it was launched in September last year does not inspire confidence in the scientific and historical credibility of the project as can be seen from the following stories which are remarkably devoid of "scientific facts":

- Dafydd Iwan, the former president of Plaid Cymru, was regaled with a fanciful story about his rare "Celtic" marker.

- Alistair Moffat's friend Ian Jones, the CEO of S4C, was told that his Scandinavian DNA marker indicated he was probably descended from Svein, the "invading Scandinavian warlord from whom Swansea first got its name".

- In a story published on Wales Online it was claimed that "a staggering quarter of all men in Wales with four Welsh grandparents can actually claim to be descended from about 20 rulers from the Dark Ages period – kings, warlords, or other powerful men who governed the land around 1,500 years ago".

It is of course very easy to make up exciting stories about our ancestry but storytelling is not science. Publishing misleading stories in the guise of science only serves to mislead the public and to detract from the legitimate scientific research in this field which is being done by reputable scientists.

In addition to the advertorial on S4C, CymruDNAWales are also trying to promote sales of their DNA kits by launching an appeal for "Welsh men with the surname of Tudor to volunteer to be tested by CymruDNAWales to ascertain if they can lay claim to having the family of Henry VIII and Elizabeth I as their forbears [sic]". To gain maximum publicity the appeal went out on the same evening that the last episode of the Tudor drama Wolf Hall was aired. However, the concept of the project appears to be fatally flawed. The family tree of Henry VIII, in common with all royal lineages, has already been very well researched and there are not thought to be any direct male-line descendants. Furthermore, surnames were adopted very late in Wales, and in some of parts of Wales the old patronymic naming system was still being used well into the nineteenth century. Testing men with the Tudor surname is, therefore, not likely to yield any meaningful insights! 

If you wish to watch the Welsh DNA programme on S4C, despite the genetic astrology warning, it can be seen in Wales on S4C and elsewhere in the UK on Sky 134 / Freesat 120 / Virgin 166. It can also be viewed live online at http://www.s4c.co.uk/clic/c_live.shtml though I'm not sure at present if the programme will be streamed in other countries. A recording of the programme will be made available for 30 days on the S4C/BBC iPlayer.

Related blog posts
- More on the S4C DNA Cymru controversy and my review of "Who are the Welsh?"
- My review of DNA Cymru Part 2 - the controversy continues

© 2015 Debbie Kennett