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)

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:

- A review from Chris Paton:

- Dick Eastman on Day 1 of WDYTYA:

- Dick Eastman on Day 2 of WDYTYA:

- Dick Eastman on Day 3 of WDYTYA:

- Janet Few on Thursday at WDYTYA:

- Janet Few on Friday at WDYTYA:

- Janet Few on Day 3 at WDYTYA:

- Learn a Little  Every Day blog:

- 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:

- Hilary Gadsby compares Rootstech and WDYTYA Live:

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