Friday 24 January 2014

Genetic Genealogy: The Basics and Beyond by Emily Aulicino

Emily Aulicino is one of the pioneers in our genetic genealogy community and she has been involved in this exciting new discipline since the very early days. She is the administrator of 13 DNA projects at Family Tree DNA and is a popular public speaker in America where she lectures frequently on the subject of genetic genealogy. I first met Emily back in 2009 when she came to London for Who Do You Think You Are? Live. She's been back every year since then and I always enjoy our annual get-togethers.

It therefore gives me great pleasure to announce that Emily has written her first book Genetic Genealogy: The Basics and Beyond.  I hope to review the book in due course but I wanted to get word out first because I know that this much-needed new book will be in great demand. The book has a strong focus on autosomal DNA, and will be particularly valuable to anyone who wants to get to grips with the methodology of chromosome mapping, phasing and triangulation.

Here is the description from the back cover:
Finally, in the rapidly evolving field of genetic genealogy an up-to-date resource is here! Genetic Genealogy: The Basics and Beyond provides genealogists with the knowledge and confidence to use DNA testing for family research. The book guides genealogists in understanding various tests and determining what DNA segments came from which ancestor. The book explains how DNA testing helps when written records stop and discusses how testing proves or disprove oral family history. Learn which tests help adoptees; understand why you resemble your relatives and how testing can connect you with cousins you never knew. Discover how to encourage potential cousins to test and learn guidelines for becoming a project administrator, genetic genealogy speaker or facilitator for your genealogical society’s DNA interest group. Genetic Genealogy: The Basics and Beyond helps experienced and fledgling researchers become genetic genealogists able to use DNA testing to resolve genealogical roadblocks.
Here is the list of contents:

List of contents
Introduction
Chapter 1 A Brief History of Genetic Genealogy
Chapter 2 Building Blocks for Understanding DNA
Chapter 3 Types of DNA Tests
Chapter 4 To Test or Not to Test
Chapter 5 Testing Goals and Test Candidates
Chapter 6 Convincing a Person to Test
Chapter 7 Choosing a Testing Company
Chapter 8 What to Do While Waiting for Results
Chapter 9 What to Do When Test Results Arrive
Chapter 10 Upgrading a Test
Chapter 11 Triangulation
Chapter 12 Chromosome Mapping and Phasing
Chapter 13 Being a DNA Project Administrator
Chapter 14 Creating a DNA Interest Group
Chapter 15 Becoming a DNA Speaker
Conclusion
Appendix A Success Stories
Appendix B Quick Steps
Appendix C Testing Companies
Appendix D Autosomal Statistics
Appendix E Additional Resources
Appendix F Glossary

The book is available from Amazon in both the US and the UK both as a paperback and as a very reasonably priced ebook. In the US the book is also available from AuthorHouse and Barnes and Noble. It can also be ordered on request from your local bookshop.

Emily will be in London in February for Who Do You Think You Are? Live where she will be presenting two lectures in the DNA workshop so do come along and hear Emily's talks and meet her in person. I'm sure she will be very happy to sign some books. You can see the full list of speakers for the DNA workshop here.

Happy reading! Congratulations Emily!

Monday 20 January 2014

DNA workshop schedule for Who Do You Think You Are? Live

It's only a few weeks to go now until Who Do You Think You Are? Live, the world's largest family history show.

The full workshop schedules are now available and can be seen on the WDYTYA Live website. There are separate schedules for the DNA workshops and the other unticketed workshops which can be downloaded here. The DNA workshop is sponsored by Family Tree DNA and this year for the first time the programme has been organised by ISOGG – the International Society of Genetic Genealogy. We have some great speakers lined up this year.

There is currently a glitch on the WDYTYA website and the speakers' biographies and lecture abstracts are not being displayed so the organisers have kindly given me permission to reproduce them here as time is running out and we know that many of you will be wanting to make your travel arrangements. If you are thinking of travelling from overseas do have a look at the ISOGG guide to WDYTYA Live where there are lots of travel tips for overseas visitors.

The WDYTYA Live programme will be provided free of charge with the February issue of Who Do You Think You Are? Magazine which goes on sale tomorrow (21st January) so make sure you pick up your copy soon as it's expensive to buy the programme on the door.

I shall be attending WDYTYA on all three days and will be helping out on the ISOGG stand (stand no. 400) where we will be offering help and advice on DNA testing.  I'm also scheduled to give two talks. WDYTYA is always a great chance to make new friends and catch up with old friends. I hope to see some of you there!

DNA WORKSHOP SCHEDULE FOR WDYTYA LIVE - 20th TO 22nd FEBRUARY 2014

THURSDAY 20th FEBRUARY 10.15
Debbie Kennett

Biography
Debbie has been involved in the world of DNA testing since 2007 and is now one of the UK’s leading genetic genealogy experts. She is the author of two books for the History Press: DNA and Social Networking (2011)  and The Surnames Handbook  (2012). She writes the popular Cruwys News blog which features articles on her Cruse/Cruwys one-name study and on genetic genealogy. Debbie was appointed as an Honorary Research Associate in the Department of Genetics, Evolution and Environment at University College London in July 2013. She is a member of the Guild of One-Name Studies and the Society of Genealogists.

DNA for Beginners: The Three Tests
This lecture will provide an introduction to the use of DNA testing as a complement to family history research. The cost of these tests has dropped dramatically in the last few years and is now affordable for everyone. The Y-chromosome DNA test is widely used in surname projects and explores the direct male line. The mitochondrial DNA test follows the motherline. Both Y-DNA and mtDNA tests can also provide insights into your deep ancestry. The newer autosomal DNA tests can be used to find matches with genetic cousins within the last five or six generations.

THURSDAY 11.15
Maurice Gleeson

Biography
Dr. Maurice Gleeson is by profession a psychiatrist and pharmaceutical physician. He is also an avid genealogist who has developed a strong interest in using DNA as an extra tool to assist family history research. He first used genetic testing in 2008 and by so doing traced his Spierin family connections back to the 1600s in Limerick, thus breaking through the Brick Wall that most people hit in their Irish research around about 1800. He has also set up the iCARA project to help people with Irish surnames in the Caribbean find their Irish ancestry, and is co-administrator of the Ireland mitochondrial DNA project .

Autosomal DNA – a step-by-step approach to analysing your atDNA matches
This talk will focus almost exclusively on autosomal DNA and how to use it to find long lost cousins. Maurice will explain a step-by-step approach to assessing your "matches" on the autosomal DNA test and how to narrow down the number of potential candidates for the common ancestor that you share with each match. In this regard, the adoption community in the US have developed some amazing tools to help with this process and Maurice will be looking at how the methodology can be applied to ordinary family tree research (with a particular focus on its potential usefulness from an Irish perspective).

THURSDAY 12.15
Michael Hammer

Biography
Michael Hammer is a research scientist in the ARL Division of Biotechnology at the University of Arizona with appointments in the Department of Anthropology and the Department of Ecology and Evolutionary Biology, as well as Director of the University of Arizona Genetics Core (UAGC) facility. Dr. Hammer received his PhD in Genetics from the University of California at Berkley and was a post-doctoral fellow at Princeton and Harvard Universities, where he pioneered the use of the Y chromosome as a genealogical tool. His work has featured the first estimate of the Y chromosome TMRCA, an African origin of human Y chromosome diversity, and the first paper showing that Cohanim are descended from a single male ancestor.

Men, Metal, and the Recent Re-Peopling of Western Europe
The highly structured distribution of Y chromosome haplogroups suggests that current patterns of variation may be informative of past population processes. However, limited resolution of the Y chromosome phylogenetic tree has obscured relationships among paternal lineages that are common across Eurasia today. Recent ancient DNA work provides another approach for inferring the timing and origins of population dispersals. I will present recent data that yield a more finely resolved Y chromosome tree, with new branches that are informative for inferring the origin of European paternal diversity, along with results from European ancient DNA studies. The emerging picture from modern and ancient DNA has important implications for both recent and more ancient migration processes into and within Europe.

THURSDAY 13.15
Jean Manco

Biography
Jean is a building historian with an inter-disciplinary approach, having been trained within an archaeological unit. She has taught at Plymouth and Bristol universities. Her previous publications include building, town, parish and charity histories. More recently she has pursued her wider interests in genetics, linguistics and the prehistory of Europe. She is the author of Ancestral Journeys: The Peopling of Europe from the First Venturers to the Vikings (2013), for which there is a companion website ancestraljourneys.org.

Who are the Europeans?
Where did the Europeans come from? In recent years scientific advances have yielded a mass of new data, turning accepted ideas upside down. For decades archaeologists regarded Europe’s past as largely a story of people staying in one place. Geneticists followed suit. Now that good-quality DNA is being extracted from the bones of long-gone Europeans, a startling new vision is emerging.  It seems that our ancestors were much more adventurous than we thought. The peopling of Europe in prehistory turns out to be a much more dynamic story, with one wave of migration following another.

THURSDAY 14.15
Andy Grierson

Biography
Andy is a Senior Lecturer in Neuroscience at the University of Sheffield with a BSc in Genetics and a PhD in Molecular Biology. In 2008 he became interested in Y-chromosome genetics through studies of his paternal ancestry. Since 2009 he has been researching the population genetics of north Wales, and in 2011 made contact with a group of non-academic “citizen scientists” who posted their research on a now defunct website called “DNA Forums”. This has subsequently led to a fruitful and ongoing collaboration.

Citizen Science: an online community approach to researching haplogroup R1b1a2
 I will describe the journey we have taken to identify Y-chromosome variants in western Europeans. The 1000  Genomes Project is a ground-breaking genetics programme, and was the first to make anonymised human genome data openly available on a large scale. By accessing this resource, and implementing open-source computational approaches, we  have identified hundreds of new genetic markers relevant to the ancestry of more than 100 million European men.

THURSDAY 15.15
Alasdair Macdonald

Biography
Alasdair is volunteer administrator for the Scottish DNA and R-L165 Projects at Family Tree DNA.  He is a tutor and member of the core team leading the postgraduate programme in Genealogical Studies at the University of Strathclyde, Glasgow.

Scottish DNA – Clans, families, and surnames
Although located on the edge of Europe the population of Scotland has been enriched for millennia by the arrival of successive waves of immigrants.  Alasdair’s talk will focus on DNA testing for genealogical purposes including the origins and inter-relationships between various clans and families.

THURSDAY 16.15
Chris Pomery

Biography
Chris Pomery was an early pioneer of DNA testing within the context of surname-based genealogy, writing his first book on the subject in 2004 and lecturing across the country in more than sixty venues over the past decade. He has written two papers for the Journal of Genetic Genealogy outlining the key methods used to combine traditional genealogical research with genetic testing. He has lectured on behalf of Family Tree DNA, the world's leading provider of genetic tests for genealogists, since 2011.

Combining traditional and genetic genealogy – the Pomeroy DNA Project
The Pomeroy family reconstruction project is one of the most advanced in the world. Using DNA data and historical research in combination, researchers have organised more than two thousand living name-bearers in Britain into a handful of family groups defined by their DNA and documented them into family trees stretching back to the start of parish records. As the name has Norman origins, the team now has to tackle the five centuries back from Elizabethan times to the arrival of William the Conqueror. The team is working hard to complete its findings to coincide with the 950th anniversary of the Conquest in 2016. This talk will be of interest to anyone running or belonging to a surname DNA project, researching a British surname, or attempting to reconstruct large-scale multi-generational family trees. It will highlight issues that have arisen and ways to solve them, and general principles, rather than dwell on the details of this particular surname, and it will consider how new advances in DNA testing will help similar projects in future.

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FRIDAY 21st FEBRUARY 10.15
Maurice Gleeson

Biography
Dr. Maurice Gleeson is a psychiatrist and pharmaceutical physician by profession. He is also an avid genealogist who has developed a strong interest in using DNA as an extra tool to assist family history research. He first used genetic testing in 2008 and by so doing traced his Spierin family connections back to the 1600s in Limerick, thus breaking through the Brick Wall that most people hit in their Irish research around about 1800. He has also set up the iCARA project to help people with Irish surnames in the Caribbean find their Irish ancestry, and is co-administrator of the Ireland mitochondrial DNA project .

Which DNA test is best for you?
Many people are interested in doing a DNA test but are not sure what tests are available or what the difference is between the various tests, so this presentation will give a detailed description of the 3 main types of DNA test. It will cover what each test will tell you, and equally as important, what each test won't tell you. That way you can decide for yourself which test might be best to help answer the questions you have relating to your own family tree research.

FRIDAY 11.15
Emily Aulicino

Biography
Emily Aulicino, international researcher, blogger and member of the International Society of Genetic Genealogy, has addressed a variety of audiences including: Family Tree DNA’s International Conference; Southern California Genealogical Society’s DNA Day; the All Cultural Society of Ireland, a Jewish Genealogical Society, the West Coast Summit on African-American Genealogy, the Left Coast Eisteddfod, and various genealogical and lineage societies. Aulicino manages 13 DNA projects and a surname study at the Guild of One Name Studies. She has been interviewed for television and various newspapers. Aulicino’s article on "DNA Testing  ̶   Solving Mysteries and Uniting Families" appeared in Irish Roots (Dublin).

Autosomal DNA Projects: What are they and what can you get from them?
Autosomal DNA (atDNA) is the latest phenomenon in the genetic genealogy world! This session will review the basics of atDNA testing and how it can help you find cousins anywhere on your pedigree chart for several generations. It will explore the types of autosomal DNA projects being created, the goals for each type of project, and a few of their success stories.  Discover how to create your own project, the tools needed and the process to produce your own success stories. So who’s your cousin?  atDNA knows!

FRIDAY 12.15
Geoff Swinfield

Biography
Dr Geoff Swinfield has been addicted to genealogy and family history since 1972. He has been a professional researcher for over 30 years and since 1999 he has run his own genealogical company, Geoff Swinfield Genealogical Services. He has a Ph.D. in Genetics from Nottingham University and has used this training to apply genealogical techniques and sources to the study of families that are at risk from genetic diseases. One of his specialities is locating living relatives and missing people.

How DNA rewrote my family tree!
This talk will illustrate how DNA testing can be used to learn more about paternal ancestry and to discover the story of my English surname of Swinfield. By integrating Y-chromosome testing with a one-name study, I have unearthed what is to me, and I hope to you, a fascinating story about my direct ancestral line and others who share my rare surname. The techniques used are applicable to all who want to use genetic testing to look critically at their genealogical tree or who are seeking evidence of how others with the same surname may be related.

FRIDAY 13.15
Jean Manco

Biography
Jean is a building historian with an inter-disciplinary approach, having been trained within an archaeological unit. She has taught at Plymouth and Bristol universities. Her previous publications include building, town, parish and charity histories. More recently she has pursued her wider interests in genetics, linguistics and the prehistory of Europe. She is the author of Ancestral Journeys: The Peopling of Europe from the First Venturers to the Vikings (2013), for which there is a companion website ancestraljourneys.org.

Did your folk go wandering as Rome fell?
The Roman Empire held so much of Europe in its grip that the fall of its western half shook society for millions. Barbarians burst across its former borders. They included Germanic, Slavic and other peoples looking for room to spread themselves. When the complex criss-crossing of their movements consolidated around AD 700, a new Europe had emerged. Can we find clues in our own DNA to an ancestral wanderer in these great migrations?

FRIDAY 14.15
Professor Chris Stringer, FRS, Natural History Museum, Kensington, London

Biography
Professor Chris Stringer has worked at the Natural History Museum since 1973, and is now Research Leader in Human Origins and a Fellow of the Royal Society.  His early research concentrated on the relationship of Neanderthals and early modern humans in Europe, but through his work on the ‘Out of Africa’ theory of modern human origins, he now collaborates with archaeologists, dating specialists and geneticists in attempting to reconstruct the evolution of modern humans globally.  He is currently leading the Ancient Human Occupation of Britain [AHOB] project in its third phase, which began in 2009, to reconstruct the patterns of the earliest human colonisations of Britain and Europe.  He has written and published extensively in this area.

Out of Africa and ancient migrations to Europe and Britain
This talk will discuss the most recent results from the Ancient Human Occupation of Britain project and related recent scientific studies by other groups to try and understand how the British Isles and continental Europe was populated.  This work draws on a number of archaeological and dating techniques including recent advances in ancient DNA methodology.  This work will also form part of a new exhibition area at the Natural History Museum, due to open on 13th February 2014.

FRIDAY 15.15
Katherine Borges
Katherine Borges is Director of the International Society of Genetic Genealogy (ISOGG) and administers several DNA projects including the Haplogroup N mtDNA and Ireland mtDNA projects.

Famous British DNA
To be supplied

FRIDAY 16.15
Debbie Kennett

Biography
Debbie has been involved in the world of DNA testing since 2007 and is now one of the UK’s leading genetic genealogy experts. She is the author of two books for the History Press: DNA and Social Networking (2011) and The Surnames Handbook (2012). She writes the popular Cruwys News blog which features articles on her Cruse/Cruwys one-name study and on genetic genealogy. Debbie was appointed as an Honorary Research Associate in the Department of Genetics, Evolution and Environment at University College London in July 2013. She is a member of the Guild of One-Name Studies and the Society of Genealogists.

Chromosomes, conquerors and castles - DNA testing and the Cruise/Cruse/Cruwys one-name study
The combination of a DNA project with traditional documentary research can provide a unique insight into the origin and distribution of a surname. The Cruise/Cruse/Cruwys DNA Project, founded in 2007, now has over 100 participants, and has earned a reputation for pioneering best practice.  This lecture will review some of the success stories from the project, and will take a look at the latest developments in Y-chromosome testing which are set to transform the interpretation of Y-DNA test results in the coming years. The lessons learnt from this project will be equally applicable to anyone who is interested in starting a project of their own.

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SATURDAY 22nd FEBRUARY 10.15
Katherine Borges

Biography
Katherine Borges is Director of the International Society of Genetic Genealogy (ISOGG) and administers several DNA projects including the Haplogroup N mtDNA and Ireland mtDNA projects.

The basics of DNA testing
To be supplied

SATURDAY 11.15
Maurice Gleeson, Katherine Borges, Emily Aulicino

Biographies
Emily Aulicino is an international genealogical researcher and blogger, manages 13 DNA projects and a surname study at the Guild of One Name Studies. Maurice Gleeson is a psychiatrist and pharmaceutical physician with an avid interest in genealogy and DNA. He runs the Spearin and iCARA projects. Katherine Borges is Director of the International Society of Genetic Genealogy (ISOGG) and administers several DNA projects including the Haplogroup N mtDNA and Ireland mtDNA projects.

Autosomal DNA Success Stories – how atDNA solved family mysteries
A practical session demonstrating how autosomal DNA helped solve specific problems in the speakers’ family tree research. Examples include tracing Irish relatives to the Australian desert, how family illegitimacies were revealed, identifying a Scottish 4th cousin, use with adoptees in search of their biological families, and more.

SATURDAY 12.15
Michael Hammer

Biography
Michael Hammer is a research scientist in the ARL Division of Biotechnology at the University of Arizona with appointments in the Department of Anthropology and the Department of Ecology and Evolutionary Biology, as well as Director of the University of Arizona Genetics Core (UAGC) facility. Dr. Hammer received his PhD in Genetics from the University of California at Berkley and was a post-doctoral fellow at Princeton and Harvard Universities, where he pioneered the use of the Y chromosome as a genealogical tool. His work has featured the first estimate of the Y chromosome TMRCA, an African origin of human Y chromosome diversity, and the first paper showing that Cohanim are descended from a single male ancestor.

Men, Metal, and the Recent Re-Peopling of Western Europe
The highly structured distribution of Y chromosome haplogroups suggests that current patterns of variation may be informative of past population processes. However, limited resolution of the Y chromosome phylogenetic tree has obscured relationships among paternal lineages that are common across Eurasia today. Recent ancient DNA work provides another approach for inferring the timing and origins of population dispersals. I will present recent data that yield a more finely resolved Y chromosome tree, with new branches that are informative for inferring the origin of European paternal diversity, along with results from European ancient DNA studies. The emerging picture from modern and ancient DNA has important implications for both recent and more ancient migration processes into and within Europe.

SATURDAY 13.15
Kirsten Bos

Biography
Dr. Kirsten Bos is a graduate of McMaster University in Canada, where she obtained her PhD in 2011. Her main focus was on molecular work with human skeletal and dental material from the East Smithfield Black Death Cemetery in London to isolate and study the strain of Yersinia pestis implicated in the Black Death.  This work was conducted with Canadian and European research grants, and led to an increasing collaboration with the research group at the University of Tübingen led by Professor Johannes Krause where she is currently based.

Genetic investigations into the Black Death in London
Advances in molecular capture techniques have permitted confirmation of authentic ancient Y. pestis DNA sequences from victims of the Black Death, and reconstruction of almost all of the ancient pathogen’s genome.  This talk will describe the problems of working with ancient DNA samples and the recent spectacular advances in isolation and analytical techniques that make the recovery of ancient DNA from various samples now possible.  Although this talk will concentrate on the story of the organism causing the Black Death in Europe, as it has a local connection to London, other work in the ancient microbial DNA field underway at the University of Tubingen will be mentioned.  The evolutionary significance of the close proximity of humans and animals in the spread of diseases across species barriers is just beginning to be understood and to become amenable to analysis.

SATURDAY 14.15
Andrew Robertshaw

Biography
Andrew Robertshaw is a military historian, author and broadcaster who has been working on the archaeology of the Western Front for over twenty years. He was lead historian on the television series ‘Finding the Fallen’ and ‘The Trench Detectives’ and has appeared in ‘Time Team’, ‘Who Do You Think You Are?’ and ‘Find My Past’. His approach to family history is based on his extensive knowledge of the primary sources at The National Archive, Regimental and Corps Museums and other databases. He regularly helps people with their research and runs the Military Ancestry Road Show (MARS) in which a team of experts deal with enquiries ranging from Waterloo to the Second World War.

Finding the Fallen - Identifying soldiers recovered from WW1 site excavations
This presentation looks at various techniques to identify human remains found on the Western Front and uses a range of case studies from recent projects. This process begins with the discovery of the remains and concludes, hopefully, with a formal identification of an individual who was previously one of the ‘missing’. Evidence ranging from uniform and equipment to anthropology and DNA are required to establish the casualty's identity in a step by step process that can take months or years. Although the Fromelles excavation is well known hundreds of other bodies have been recovered over the past twenty years. The lucky ones are those found and recovered by teams with archaeological and conservation backing. The well intended with shovels and bin bags or the outright treasure hunters are a feature of Great War sites. This presentation will explore the best and worst examples of the process.

SATURDAY 15.45
Bruce Winney
Note that this talk will take place in the Celebrity Theatre/SOG Theatre 1 and tickets can be booked in advance. There is no DNA workshop lecture in this slot.

Biography
Bruce Winney is a researcher in Sir Walter Bodmer’s Laboratory at Oxford University. His background is population genetics of animals (i.e. looking at genetic differences between populations) and has previously worked on birds and large mammals before moving onto humans. After a spell looking for susceptibility genes to colorectal cancer, he is currently running the “People of the British Isles” project at Oxford, which is funded by the Wellcome Trust. This work will form the basis of his talk.

Where do we come from? – What genetics tells us about the peopling of the British Isles
There is a great deal of interest in fine-scale population structure in the UK, particularly as a signature of historical immigration events. A powerful means of detecting such structure is to control and document carefully the provenance of the samples involved. Here we describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK population that can be used as a resource by the research community as well as providing fine-scale genetic information on the British population. Analysis including Europe sheds light on the peopling of the British Isles.

SATURDAY 16.45
Brian Swann

Biography
Brian Swann obtained a PhD in organic chemistry in 1971 from the University of East Anglia and then worked in and around the pharmaceutical industry until his retirement in 2011.  He first became involved in family history in 1967 and in the use of DNA in family history in 2000.  From 2007 he has been regional co-ordinator for the International Society of Genetic Genealogy and in 2008/9 helped introduce the DNA Area into Who Do You Think You Are.  He still enjoys research using paper documentation as well as trying to understand and explain the latest advances in the DNA field.

Wales, DNA and Surnames
The surnames of Wales and Welsh family history in general still remain under-appreciated by many family historians.  Like Ireland, Wales has a unique culture and bardic history which has no real equivalent in England.  This talk will discuss where DNA fits in today to the study of Welsh ancestry and its unique set of problems.  The new book by John and Sheila Rowlands on The Surnames of Wales is a new and major contribution to this area.  Other types of records that could go online to further the cause of family history research in Wales will be considered, with a particular emphasis on resources before 1800.  Finally a short summary of key advances in DNA sequencing will be given with a particular emphasis on the Y-chromosome.  This has the potential to revolutionise (yet again) the way that DNA can be utilised in family history research, as whole genome sequencing of the Y-chromosome moves into commercial reality.

Wednesday 15 January 2014

New genetic genealogy course from the University of Strathclyde

The University of Strathclyde in Scotland will be starting a new eight-week online course in the autumn on "Genetic genealogy: an introduction". The aim of the course is to "impart a working knowledge of the scientific and technological aspects of genetic genealogy and teach the skills needed to interpret DNA test results for genealogy". The new course complements the university's existing range of genealogy courses.

For those interested in gaining accreditation, there is an option to gain 10 credits at SCQF (Scottish Credit and Qualifications Framework) level 7 on the satisfactory completion of two assessments.

Further information can be found at the bottom of the following webpage:

www.strath.ac.uk/cll/alp/onlinescottishgenealogy

More details will be available in due course.

The University of Strathclyde also offer a range of online postgraduate level courses. Further details can be found at:

http://www.strath.ac.uk/genealogy

(With thanks to Alasdair Macdonald)

Saturday 11 January 2014

BritainsDNA, the BBC and Eddie Izzard

Meet the Izzards is a two-part documentary broadcast by the BBC in February 2013 in which the transvestite comedian and actor Eddie Izzard embarked on what the programme maker's described as "a remarkable journey using his own DNA as the road map". I didn't have time to write about the programme when it was first aired, but there have since been a number of concerns raised. Over the Christmas holiday I took the opportunity to watch the programmes again so that I could set the record straight.

First of all I want to provide a little background information because to understand some of the problems it's necessary to look at the wider picture. A company by the name of BritainsDNA, who also trade under the names ScotlandsDNA, IrelandsDNA and YorkshiresDNA, have claimed the credit for doing the DNA testing for Meet the Izzards. For the last couple of years Alistair Moffat, the company's Managing Director, has been actively courting the media, and a number of national newspapers have taken the bait. The stories that have been published have been so exaggerated that BritainsDNA has earned itself an unfortunate reputation for what Private Eye has described as its "ludicrous but headline-grabbing claims".1 However, it is the BBC which has given Alistair Moffat the most publicity. As the former director of Scottish Television Moffat seems to have friends in high places at the BBC. James Naughtie, the presenter of the Today programme, appears to be an old friend of Alistair Moffat's because he endorsed his bid to become Rector of St Andrew's University. Naughtie invited his friend onto the BBC Radio 4 Today programme on three occasions and gave him the chance to promote his genetic ancestry company, while failing to challenge the nonsensical claims made during the course of the interviews.2 Alistair Moffat has also appeared on BBC Radio Scotland on at least nine occasions in the last few years to promote his company. The radio presenters Fred MacAulay and Tom Norton both had their DNA tested by ScotlandsDNA, and the subject matter was deemed to be so important that the story in each case was spun out over three programmes.  Unfortunately Alistair Moffat's interpretation of their DNA results had no scientific basis and was instead nothing more than imaginative story-telling. At times the stories were so absurd as to be laughable. For example, Fred MacAulay was spun a ridiculous tale on air that his Y-chromosome DNA puts him "in south-west Ireland as part of the descent of Irish kings who were captured by Vikings and then sold in the slave market taking him up to the Hebrides". The interviewers all seemed to be happy to accept their results without question, and at no point did the BBC seek to ask for an alternative interpretation from a geneticist.3

It is no surprise to find that Eddie Izzard is also one of Alistair Moffat's old acquaintances. The pair met many years ago at the Edinburgh Festival Fringe during Alistair Moffat's five-year tenure as Director. It might of course just be a coincidence that Alistair Moffat's company was chosen to do the DNA testing for Meet the Izzards. The company itself was not directly mentioned in the programme, but celebrity friends can be very useful, and Eddie Izzard enthusiastically tweeted to his two million or more followers afterwards to promote the company:
Interestingly, Eddie Izzard has now seemingly changed his mind about BritainsDNA as he has declined to produce the promised foreword for Alistair Moffat's new book The British: A Genetic Journey.

Meet the Izzards was conveniently broadcast on the 20th and 21st February 2013 just before the start of the big family history show Who Do You Think You Are? Live, held at Olympia in London from 22nd to 24th February 2013. BritainsDNA had a stand at the show for the first time, so the scheduling was very convenient for them, though of course the timing could just have been a coincidence.

What is of more concern about the programme is the lack of editorial balance. Although Alistair Moffat did not appear in the programme the geneticist who interpreted Eddie Izzard's DNA results was Dr. James Wilson, who works at Edinburgh University but is also the co-founder of BritainsDNA and is the company's chief scientist. Jim Wilson was listed as the consultant for the programme but significantly no other geneticists were involved. It is not clear if the BBC were aware of the commercial interests, but population genetics is sometimes a controversial subject, and for the sake of balance the BBC really should have invited a range of opinions.

As a publicly funded body the BBC has a duty to remain impartial. Indeed the BBC's editorial guidelines state:
The BBC is independent of outside interests and arrangements that could undermine our editorial integrity.  Our audiences should be confident that our decisions are not influenced by outside interests, political or commercial pressures, or any personal interests.4
It is therefore astonishing that Alistair Moffat has been given such free rein to promote his genetic ancestry company on the BBC. It is also of great concern that at no point has the BBC given any scientists the opportunity to counter the many ludicrous claims that have been made. Fortunately the BBC's unwitting promotion of Alistair Moffat and his company seems to have stopped because as far as I'm aware there have been no further interviews since 25th March 2013 when Alistair Moffat appeared on the John Beattie programme to speak about his company's supposed discovery of a new "Pictish" marker. This claim was also made in a press release issued by ScotlandsDNA but no peer-reviewed scientific paper has ever been published to support the claim. It's possible that Alistair Moffat has not had any other good "stories" to offer to the BBC in the last nine months. Alternatively, perhaps the BBC have become more selective in their choice of interviewees. A more plausible explanation is that Alistair Moffat, who still serves as the Rector of St Andrew's University, has been forced to maintain a dignified silence by the Academic Senate, St Andrew's supreme authority. The Saint, the St Andrew's student newspaper, reported in April last year that Alistair Moffat had been asked to "delineate his University and personal business" after he was found guilty of attempting to stifle academic debate by issuing legal threats to his critics.

Meet the Izzards Part 1: The Mum's Line
Now lets turn to the content of the Meet the Izzards programmes. The documentary was divided into two parts. The first programme explored Eddie's Izzard's motherline by testing his mitochondrial DNA, and the second programme investigated his fatherline through his Y-chromosome DNA.  It was essentially a deep ancestry equivalent of Who Do You Think You Are? in the form of a travelogue with the story being told through a selection of the "key markers" which identify the major branches of the Y-DNA and mtDNA trees. At each stage of the journey Eddie visited his genetic cousins around the world who shared these "significant" markers with him. It can of course be argued that both the Y-DNA and mtDNA lines represent a tiny percentage of our ancestry and that this proportion decreases the further back in time you go. However, the advantage of using Y-DNA and mtDNA is the fact that in both cases the DNA is inherited virtually unchanged and we can therefore trace these lines back like a laser beam into the distant past. Genetic genealogists realise the limitations of the tests but still form an emotional attachment with their Y-line or mtDNA line, in the same way that genealogists often develop a particular interest in a specific surname or a particular ancestor in their family tree, so I think such an approach is valid.

The first programme started with Eddie providing his DNA sample "for science" and focused on the results of his mitochondrial DNA test which tells the story of his matrilineal ancestors.5 While waiting for the results to come through Eddie paid a visit to his childhood home in Bexhill-on-Sea in Sussex to see his 83-year-old dad. Eddie's mother died when he was six years old, and so the opportunity to explore his female line was of particular interest to him.

Eddie started his genetic journey in Africa, which is where mitochondrial Eve, the most recent common ancestor of all living humans on the mtDNA line, is thought to have lived. The first genetic cousins he met were the San Bushmen who live on the edge of the Kalahari desert in Namibia. These are one of the last remaining peoples to preserve the hunter gatherer lifestyle practised by our distant ancestors, and Eddie was given a taste of the hunting and gathering lifestyle. Eddie was told by Dr Jim Wilson that the point at which his line connected with his African cousins occurred around 192,000 years ago. I have been unable to verify how such a precise date was calculated but it should be noted that there are considerable uncertainties over the date of mitochondrial Eve. Indeed, two studies published last year, albeit after the programme had aired, produced wildly differing estimates. A somewhat controversial paper by Poznik et al estimated that mitochondrial Eve would have lived between 99 and 148 thousand years ago,6 while Rito et al placed the date at around 180,000 years ago.7

The story then moved on 140,000 years to a time when modern humans had colonised Africa. Eddie's next significant marker was the N branch (haplogroup) of the mtDNA tree. Haplogroup N is not found in Africa today but is prevalent in Arabia, and possibly points to the place where modern humans first left Africa 60,000 years ago. The Bab el-Mandeb Strait, a narrowing of the Red Sea, has been proposed as the crossing point. The programme did not make clear that these proposed journeys are highly speculative and have not been scientifically proven. Nevertheless Eddie was transported to the small country of Djibouti to see for himself the possible route that his ancestors might have taken, a spot which is the lowest place in Africa and where the sea is saltier than the Dead Sea. From here it is just 35 kilometres across the sea to the Arabian country of Yemen where "it is thought that modern humans first stepped out of Africa". Bizarrely Yemen is the country where Eddie was born, though political unrest prevented Eddie from seeing his birthplace.

Eddie's journey jumped forward 42,000 years to look at the T2 branch of Eddie's mtDNA tree which is thought to have originated around 18,000 years ago, and is today most common in the Middle East and Turkey. We were told that Eddie's ancestors probably moved north up the Fertile Crescent to Turkey and were there for the birth of agriculture about 10,500 years ago, which provided a good excuse for Eddie to travel to the Black Sea coast in Turkey to learn how agriculture and the domestication of animals transformed our lives.

The programme then took a very confusing turn. Rather than focusing on the mitochondrial line we had a digression into autosomal DNA to learn about the development of a genetic change which occurred in most Europeans which allows them to digest milk. There was also a brief discussion of how Eddie Izzard came to have blue eyes, another trait which is inherited autosomally. We were told that the most up-to-date research from a team of researchers at the University of Copenhagen had found that everyone with blue eyes can be traced back to one person who lived on the Black Sea coast 10,000 years ago. This appears to be a reference to the 2008 study by Eiberg et al which discovered a set of SNPs in "155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan" that were suggestive of a common founder mutation.This is is an area of ongoing research and many new insights will be provided from ancient DNA. It is therefore somewhat premature to draw conclusions at this stage on the geographical origin of a specific trait.

The next stage of the journey took Eddie to Istanbul on the pretext that his ancestors would most likely have travelled to Europe across the Bosphorous Straits, the narrow stretch of water which separates Asia and Europe. It transpired that Eddie's parents spent their honeymoon in Istanbul, and he was given the opportunity to stay in the very same room that they shared. He was then whisked off to Pompeii where he was introduced to the skeletons of some of his "genetic cousins" who died in 79 AD after the eruption of Mount Vesuvius. Geneticists were able to extract DNA from the teeth of the skeletons. Although not explained very clearly in the programme the reason for the diversion to Pompeii is that some of the skeletons were thought to belong to haplogroup T2b, a sister branch of Eddie Izzard's own mtDNA haplogroup.9

In the final stages of Eddie's journey the focus was on what was described as the more recent "markers" in Eddie's mtDNA. The letters T2f2a1 flashed up on the screen and although the word haplogroup was not mentioned these letters referred to Eddie Izzard's haplogroup assignment. In the BritainsDNA press release about the programme it is stated that "the DNA analysis for the films was carried out by Dr Jim Wilson, Chief Scientist at BritainsDNA" and readers are urged to visit the BritainsDNA website for further information.  However, at the time that the programme was shown BritainsDNA were only offering a very basic mtDNA test (what they now refer to as their standard mtDNA test) which looks at just 300 SNPs out of the 16569 positions in the mtDNA genome. A test covering such a small number of markers is not going to be sufficient to provide such a detailed haplogroup assignment so we must presume that the mtDNA testing was not done by BritainsDNA. It was, therefore, misleading for BritainsDNA to promote their association with the programme, thereby also giving the false impression that potential customers taking their standard mtDNA test would be able to receive such a refined haplogroup assignment.

Eddie Izzard was told that T2f21a (confusingly described as a "marker") dates back about 2000 years, or fewer than 70 generations ago.10 Dr. Jim Wilson then went on to inform Eddie that his "mother's mother's mother's people were Vikings". Eddie was promptly despatched to a Viking port in Denmark to meet a Danish brother and sister who share his marker (or more specifically his T2f21a haplogroup). A somewhat absurd conversation followed whereby Eddie and the two Danes tried to find some traits and interests in common. Mitochondrial DNA does of course constitute only a very tiny percentage of our entire genome, and contains just 37 genes out of the 20,000 or more genes on our chromosomes. As Eddie and the Dane are only very distantly related through their mitochondrial DNA any traits they share in common will be purely by chance rather than through a shared genetic inheritance. Continuing with the Viking theme Eddie was put into a replica Viking longboat to recreate the journey his supposed Viking ancestors would have made to Britain. It is very disappointing to find a geneticist appearing on the BBC telling viewers that an mtDNA haplogroup is of Viking origin. Haplogroups do tend to cluster in specific geographical locations but the mtDNA of living people is not necessarily representative of the DNA of past populations, and it is simply not possible to determine that a specific ancestor from 2000 years ago was a Viking, a Norman, a Celt or any other such tribe.11 In this particular case the inference was made from a sample of just ten people who matched Eddie Izzard's mtDNA haplogroup. Jim Wilson also conveniently overlooked the fact that there was no such group known as the Vikings 2000 years ago!

Finally Eddie's mtDNA was compared to a database of 12,000 people who have submitted to "a full exhaustive test of their motherline DNA" (I presume this is the mtDNACommunity database of full mt genome results). Only four matches were found. Back in England he was taken to visit two of his matches   two sisters living in Northamptonshire.  We were informed that they shared a maternal line ancestor within the last 500 to 1000 years. However, Eddie was told that he has a "unique motherline marker" so I presume that his sequence was not an exact match with that of the sisters. Estimates of the "time to the most recent common ancestor" will always carry with them some uncertainty, as the processes by which genetic differences between us are generated include inherently random elements. Even with an exact match it is estimated that 5% of matches will be from over 550 years ago (22 generations). With one mismatch the common ancestor could have lived well over 1000 years ago. Nevertheless, Eddie proceeded to share a cup of tea with the sisters while they discussed their shared "Viking" heritage. The sisters had considered themselves to be Anglo-Saxons and were therefore somewhat surprised to be told that they were "Vikings"!  It is a pity that they were not informed that if you go back just a few thousand years we all have so many ancestors that we will invariably have multiple ancestors who were Vikings, Anglo-Saxons or indeed any other group that takes our fancy.12

The programme concluded with Eddie Izzard standing on the beach on a very grey and windy day contemplating what he had learnt about his mother's ancestors, and looking forward to the next stage of his genetic journey where he would explore his father's line.

Meet the Izzards Part 2: The Dad's Line
The second programme began with Eddie visiting his father in Bexhill-on-Sea and reviewing his father's genealogical research. The Izzard line has been traced back to the 17th century to a William Izard who married Mary Dalloway in Darlington in 1686. Eddie's father was hoping that the DNA testing would help to take the family tree further back in time. The focus would be on the "significant markers" in Eddie's Y-chromosome which would determine the key points in Eddie's "journey" through his fatherline. Colloquially the term "marker" is usually used in genetic genealogy to describe Y-STR (short-tandem repeat) markers. These are the markers that are tested when you take a Y-DNA test as part of a surname DNA project. Although the programme did not go into a detailed explanation of the type of markers used it was clear that the focus was on what are known as SNPs (pronounced "snip"). SNP is an abbreviation for single-nucleotide polymorphism, and it is the SNPs which define the branches of the human Y-chromosome tree. The Y-SNP tree is now a very large and complicated structure, which is in a constant state of flux.13

Eddie started his journey by travelling to the equatorial rain forest in Cameroon to meet the Bakola people, a pygmy group, who live a semi-nomadic existence which has changed little since the Stone Age. Their size is believed to be an adaptation to the dense vegetation and low ultraviolet light in the forest. The Bakola were chosen to represent haplogroup A which, at the time the programme was made, was the most ancient branch on the human Y-DNA tree. We were told that Y-chromosome Adam, the most recent common ancestor of all living men, dates back around 142,000 years ago. This date is derived from a paper published by Cruciani et al in 2011.14 Unfortunately for Eddie Izzard and the programme makers, just a week after the programme aired a new paper was published by Mendez et al which radically rewrote the Y-SNP tree, and placed the time to the most recent common ancestor for the Y-tree as 338 thousand years ago.15 The oldest branch on the Y-tree is now haplogroup A00, which has so far only been found in a few samples from the Mbo people in western Cameroon.  Dr. Jim Wilson, the programme's consultant, might not have known about the imminent publication of this paper. However, if the BBC had done what they should have done and sought a range of opinions from leading population geneticists, they might well have learnt in advance of this important change in the Y-tree as the findings would no doubt have been discussed at scientific meetings. Within the genetic genealogy community we had learnt of the finding of haplogroup A00 back in November 2012 when the results were presented at the Family Tree DNA Group Administrators' Conference by Dr. Michael Hammer, one of the co-authors of the paper. Michael Hammer even discussed the finding of haplogroup A00 in his talks at Who Do You Think You Are? Live on the day after the final episode of Meet the Izzards had aired. However, regardless of the date of Y-chromosome Adam it really would have made no difference whether Eddie had visited the Bakola or the Mbo people because the present-day location of a haplogroup is unlikely to coincide with its point of origin several hundred thousand years ago. As Mendez et al remind us, the finding of haplogroup A00 "underscores how the stochastic [random] nature of the genealogical process can affect inference from a single locus and warrants caution during the interpretation of the geographic location of divergent branches of the Y chromosome phylogenetic tree for the elucidation of human origins".

The programme then moved forward to what was described as "a pivotal moment in human history"  the time when all non-Africans left Africa to populate the rest of the world possibly via the Red Sea. This event was thought to have occurred over 60,000 years ago, and provided an excuse to send Eddie Izzard off to Dubai in the United Arab Emirates, where he had a meeting in an exclusive hotel with archaeologist Jeff Rose who discussed with him the latest archaeological findings from Arabia. A big population explosion is thought to have occurred around 50,000 years ago at which point humans began to spread out from Arabia. Eddie was taken to meet a 64-year-old man in Dubai who has been responsible for his own mini-population explosion having fathered 93 children to date by four wives. His youngest child was just nine months old, but he has two more children on the way and plans to go on until he has 100 children, despite having recently lost a leg in a car accident.

The next stage of the journey took Eddie to Israel for a diversion into Neanderthal DNA. This clip can be seen on YouTube.


Given that the programme was supposed to investigate Eddie Izzard's male line it was somewhat confusing to digress into a discussion of Neanderthal DNA. All non-Africans do indeed share a small percentage of autosomal DNA with Neanderthals, but on both the Y-DNA and mtDNA lines humans are on completely different branches of the tree. This aspect of the programme has also caused some confusion with people who have purchased the BritainsDNA test because they were misled by the company's advertised link with the programme and were expecting to be given Neanderthal percentages. They were disappointed to find that this information was not provided. The tests from 23andMe and the Genographic Project are currently the only ones that provide Neanderthal percentages.  The technical aspects are nicely explained in a 23andMe White Paper. According to 23andMe 2.5% of my ancestry is Neanderthal and the average European has 2.7% Neanderthal ancestry. There was nothing special about Eddie Izzard's 2.8% Neanderthal to justify the sensationalist way in which the information was presented to him. Such findings are, in any case, very experimental. It is one thing to detect Neanderthal percentages at the population level, but a different matter to extrapolate these findings at an individual level.

We were then told that Dr Jim Wilson looked at the "migration map used by scientists" for matches to Eddie's "next significant marker" which produced the I branch (more usually known as haplogroup I) that supposedly first appeared about 25,000 years ago. We were informed that haplogroup I is present today in many central European communities but not in the Middle East. While the sequence of the SNPs on the Y-tree is well established there is no such thing as a "migration map used by scientists" for the simple reason that these migrations are at best informed guesses with much uncertainty associated with them.

On the somewhat tenuous assumption that haplogroup I is associated with the Gravettian culture Eddie was sent to Austria where he once again met up with Dr Jim Wilson who took him to see a replica of the Venus of Willendorf, a famous and voluptuous figurine from this period. Eddie was also introduced to another genetic cousin, a man from Sarajevo who shares the SNP for haplogroup I2 with Eddie. I2 is apparently found in up to 10% of European men, and originated in central Europe 20,000 years ago. The Sarajevan and Eddie have a common ancestor (on the male line) in the past 700 generations.

In order to understand how the male "Izzards" survived the Ice Age Eddie visited an experimental archaeologist who dressed up him up in Ice Age clothing to demonstrate how the course of human history was altered by the invention of the needle around 20,000 years ago.

His next visit was to the Cave of Niaux in the French Pyrenees to meet archaeologist Dr Jean Claude and to see the spectacular cave paintings dating back over 15,000 years. The reason for the visit was that the people who did the paintings were supposed to have shared Eddie's "early European marker" (in other words they belonged to haplogroup I2). In reality we have no way of knowing the haplogroup of the people who made these paintings. The paintings might well have been done by a number of different people belonging to a range of Y-DNA haplogroups. Those haplogroups might not even necessarily be present in the population today. And of course it's also possible that the paintings might have been done by women, who do not have a Y-chromosome and would, therefore, not share any of Eddie's Y-DNA SNPs.

The next stage of Eddie's journey took him to the small village of Neuharlingersiel in Lower Saxony near the North Sea coast in Germany. This location was chosen because it was supposedly the place where Eddie's "next significant marker" originated about 3000 to 4000 years ago. We were told that only about 0.5% of people in England carry this marker, a figure which I presume is derived from the BritainsDNA database. The programme did not reveal the name of this marker, which was apparently only discovered in 2012.  In Neuharlingersiel Eddie was introduced to another of his genetic cousins, an American by the name of Brian Felix who shared the same rare unnamed marker as Eddie. Brian's ancestors had emigrated from this village to America in the nineteenth century. We were then told that Eddie's Y-line ancestor must have been an Anglo-Saxon who came to England during the Anglo-Saxon invasions of around 400 AD. Again, this is speculation.  It is very difficult to define a precise date when a new branch of the Y-tree arose because there is no agreement on the mutation rates to be used to do the calculations. Humans have throughout their history tended to migrate and it is highly unlikely that Brian Felix's patrilineal ancestors would have been living in the same village several thousand years ago. Even if they were, this does not mean that the haplogroup originated in this village. It is simply not possible to narrow down the origin of a haplogroup to such a precise geographical location.

Eddie headed back to England for the final stage of his journey. Jim Wilson told us that Eddie's "most recent marker" is so new that it doesn't have a name, and only 0.1% of people in England have this marker. Eddie travelled to Lincolnshire to meet a genetic cousin by the name of Henry Speer. We were informed that the men shared a common ancestor about 1500 years ago, and that Eddie's marker "pointed to his ancestors coming to Britain as Saxons". The SNP is presumably a new SNP found through commercial tests done by Jim Wilson's company. However, numerous new SNPs have been discovered in the last few years and it is highly likely that this same SNP has been discovered elsewhere. BritainsDNA only have a small database and extrapolations from a few samples found in a highly biased commercial database provide little basis for concluding that someone's male-line ancestor was a Saxon.

At the end of the programme Eddie met up with his father who told him that it was up to him to start the next generation and keep his Y-chromosome going.

Conclusion
TV programmes on science often tend to be very dumbed down, and there is a difficult balance between trying to get the science right and producing a programme which is entertaining but also understandable to a lay audience. Eddie Izzard has an engaging personality and Meet the Izzards had some interesting moments. It did help to get across the important message that we are all related, but the basic premise of the programme was flawed because we cannot extrapolate from the DNA results of living people to determine the precise migratory paths of our ancestors from thousands of years ago, though of course it can be fun to speculate. I was concerned that the geneticist who appeared on the programme gave the false impression that Eddie Izzard had "Viking" ancestry on his maternal line and "Anglo-Saxon" ancestry on his paternal line. Many of us within the genetic genealogy community spend a lot of time trying to educate people about both the benefits and limitations of DNA testing, and we specifically tell people that a DNA test cannot tell you that you are an Anglo-Saxon or a Viking. It is very frustrating to have our efforts thwarted by someone who should have known better. I am disappointed that the BBC allowed such a programme to be made without including other geneticists to provide some balance. In particular, it is of concern that the only geneticist who appeared on the programme is the co-founder of a commercial genetic ancestry company. However, the most disturbing aspect of this whole affair is the vast amount of free publicity that the BBC have given to BritainsDNA in the last couple of years, in contravention of their editorial guidelines, of which this programme is just a small part. While there appears to be no direct link between Alistair Moffat and the people behind Meet the Izzards, we can only speculate that perhaps some strings have been pulled in the background to get the programme made.

Related blog posts
Alistair Moffat, BritainsDNA and the BBC - a "uniquely British farce"
- More pseudoscience from Alistair Moffat
The British: a genetic muddle by Alistair Moffat
BritainsDNA, The Times and Prince William: the perils of publication by press release

References and footnoes
1. Brittle Myths MoffatPrivate Eye, No. 1347, 23 August to 5 September 2013, p31.

2. The three interviews are still available on the BBC website:
- 2 March 2011: James Naughtie has his DNA tested by Alistair Moffat for Ethnoancestry, the previous incarnation of ScotlandsDNA.
- 1 June 2011: Alistair Moffat is invited onto the Today programme to reveal the results of James Naughtie's DNA test. The interpretation of the results is nothing more than imaginative storytelling with little if any scientific content. Naughtie gives Alistair Moffat the opportunity to advertise the ScotlandsDNA website.
- 9 July 2012: Alistair Moffat is interviewed by James Naughtie.  His imagination once again runs riot, and Naughtie allows him to promote the BritainsDNA website.

3. Alistair Moffat's known appearances on BBC Radio Scotland where he promoted BritainsDNA/ScotlandsDNA are as follows:
- 7 November 2011: Alistair Moffat "reveals the final results of the study into Scotlands DNA" on the Tom Morton show.
- 8 December 2011: Alistair Moffat promotes ScotlandsDNA on MacAulay and Co.
- 1 March 2012: Fred MacAulay receives the results of his ScotlandsDNA test from Alistair Moffat.

4. The BBC's Editorial Values can be found at: 
http://www.bbc.co.uk/guidelines/editorialguidelines/page/guidelines-editorial-values-editorial-values/ The BBC's Editorial Values have their roots in the BBC's Royal Charter: http://www.bbc.co.uk/guidelines/editorialguidelines/page/guidelines-editorial-values-charter/

5. Although not mentioned in the programme the mtDNA tree is maintained by Phylotree and can be found at www.phylotree.org.

6. Poznik GD, Henn BM, Yee M-C et al. Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. Science 2013 341; 6145: 562-565.
This paper has come in for a lot of criticism not the least of which is for the authors' mistaken assumption that mitochondrial Eve and Y-chromosomal Adam should be expected to date back to the same time. For a critique of this paper and some useful related diagrams see the three-part series of articles by Melissa Wilson Ayres: Y and mtDNA are not Adam and Eve: Part 1Y and mtDNA are not Adam and Eve: Part 2 - What it means to be the Most Recent Common Ancestor and Y and mtDNA are not Adam and Eve: Part 3 - Resolving a discrepancy.

7. Rito T, Richards M, Fernandes V et al. The first modern human dispersals across Africa. PLoS One 2013 8(11): e80031.

8. Eiberg H,  Troelsen J, Nielsen M. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Human Genetics 2008 123(2):177-187.

9. For further details of the Pompeii family see the article on Ancient DNA from Pompeii on Dienekes' Anthropology blog. The scientific paper "Ancient DNA and family relationships in a Pompeian house" (Di Bernardo G et al. Annals of Human Genetics 2009; 73: 429-437) is behind a paywall but the abstract can be found here.

10. According to the calculations in Behar 2012 (A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its RootAmerican Journal of Human Genetics  90 (4): 675-684) T2f2 dates back 3506.9 years if the whole mt genome is used but 4457.4 years if only the coding region is used.

11. For a detailed explanation of the problem of assigning arbitrary tribes and historical figures to Y-DNA and mtDNA haplogroups see the pamphlet from Sense About Science entitled Sense About Genetic Ancestry Testing.

12. See the ISOGG Wiki article on pedigree collapse for a selection of articles on the recent common ancestor of all humans and estimates of the number of ancestors that we have.

13. Although not mentioned on the programme the most up-to-date version of the Y-SNP tree is maintained by ISOGG (the International Society of Genetic Genealogy) and can be found at www.isogg.org/tree.

14. Cruciani F, Trombetta B, Massaia A et al. A revised root for the human Y chromosomal phylogenetic tree: the origin of patrilineal diversity in AfricaAmerican Journal of Human Genetics 2011; 88 (6): 814–818.

15. Mendez FL, Krahn T, Schrack B et al.  An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic treeAmerican Journal of Human Genetics 2013; 92: 454–459.

© 2014 Debbie Kennett

Monday 6 January 2014

Family Tree DNA January webinar schedule

Family Tree DNA have recently contracted with genetic genealogist Elise Friedman to provide a series of free webinars and instructional videos directly through the FTDNA website. I have received the following schedule for January from Family TreeDNA.

Family Tree DNA Feature Launch: X Chromosome Matches in Family Finder
Time: Tuesday, January 7, 2014 @ 12pm Central (6pm GMT)
Registration: http://bit.ly/19Wohgg

On January 2, 2014, Family Tree DNA launched an exciting update for Family Finder: X chromosome matches!  This webinar will provide a brief overview of the new tools on the Matches and Chromosome Browser pages for viewing and analyzing your X chromosome match information.

myFTDNA: Managing Your Personal Account at Family Tree DNA
Time: Thursday, January 9, 2014 @ 12pm Central (6pm GMT)
Registration: http://bit.ly/19WorUP

Learn your way around your personal myFTDNA account at Family Tree DNA! We'll cover basic account settings, where to locate your results when they come in, how to upload a GEDCOM (family tree), how to update your Most Distant Ancestor information and map coordinates for your ancestral location, how to join projects and account privacy. (Note: This webinar does not cover interpreting your results. We have other webinars dedicated to understanding your results!)

Family Tree DNA Results Explained, Part 3: Family Finder
Time: Tuesday, January 14, 2014 @ 12pm Central (6pm GMT)
Registration: http://bit.ly/196yt7L

An information-packed webinar focusing on how to read and understand your Family Finder results. Learn about autosomal & X DNA inheritance, how Family Finder determines your relationship with your matches, how to use the Chromosome Browser, and much more!

Mind the GAP: Beginner's Guide to the Group Administration Page at Family Tree DNA
Time: Tuesday, January 21, 2014 @ 12pm Central (6pm GMT)
Registration: http://bit.ly/Ks1oaN

Family Tree DNA has over 7,000 surname, geographical, heritage and haplogroup projects. All of these projects are run by volunteers who have a passion for genetic genealogy. This webinar provides an in-depth look at the many tools available in the GAP for project administrators. If time permits, we’ll also discuss member recruitment and other project administration topics.

Advanced Topics at Family Tree DNA, Part 1: Y-DNA
Tuesday, January 28, 2014 @ 12pm Central (6pm GMT)
Registration: http://bit.ly/JVMR6F

This advanced webinar goes beyond the Family Tree DNA Results Explained webinar series, providing more in-depth detail about the genetics and usage of Y-DNA testing.  We will cover the following topics: NIST standards, compound markers, palindromic & multi-copy markers, genetic distance models, modal values & triangulation, micro-alleles, recurrent SNPs & SNP discovery projects.

Recorded On-Demand Webinars

Introduction to Family Tree DNA
Any Time Recording
Registration: http://bit.ly/1cGd447

This FREE Online Seminar will help you learn the basics about Family Tree DNA's Y-DNA, mtDNA and Family Finder (autosomal DNA) tests. Elise explains what each of these tests can tell you about your ancestry and how to decide which test to order based on your personal interests and goals. She shows the basics of personal myFTDNA account where all of your results are reported as well as example results from each test. Elise will also gives a brief overview of our group projects and other resources available at Family Tree DNA.

Family Tree DNA Results Explained, Part 1: Y-DNA
Any Time Recording
Registration: http://bit.ly/1cis4qI

In this information-packed webinar, Elise focuses on how to read and understand your Y-DNA results. Learn where to find your Y-DNA results in your personal myFTDNA account, how to read your Standard Y-STR Results and what they mean, how to analyze your Y-DNA matches, what your Y-DNA haplogroup means and much more. She also provides tips for making the most of your Family Tree DNA experience

Family Tree DNA Results Explained, Part 2: mtDNA
Any Time Recording
Registration: http://bit.ly/18K1lCG

In this information-packed webinar, Elise focuses on how to read and understand your mtDNA results. Learn where to find your mtDNA results in your personal myFTDNA account, how to read your mtDNA Results page and what the results mean, how to analyze your mtDNA matches, what your mtDNA haplogroup means and much more.  She also provides tips for making the most of your Family Tree DNA experience.

Thursday 2 January 2014

Family Finder X-chromosome matching

Family Tree DNA have announced the release of a new X-chromosome matching feature as part of their Family Finder test. This is a particularly exciting new feature because of the very special inheritance pattern of the X-chromosome.  Autosomal DNA is inherited in a random fashion from all of our ancestors and consequently there is no easy way to determine which line you match someone on without doing all the hard work of comparing family trees and mapping the individual segments to specific chromosomes. The ability to view X-chromosome matches will allow us to refine a subset of our matches to a more limited number of lineages. For information on the inheritance of the X-chromosome see the article on X-chromosome testing in the ISOGG Wiki. The Wiki article also contains links to a number of very useful downloadable charts where you can add in the details of the relevant ancestors.

I've had a brief play with the new X-chromosome feature and I think that FTDNA have done a very nice of job integrating these new tools into the Family Finder test. This is a long promised and most welcome new feature.

My mum currently has 185 Family Finder matches but only 41 of these people (including me!) also match her on the X-chromosome. My dad has 235 matches but only three of these matches (again including me!) also match him on the X-chromosome. I I have 203 Family Finder matches. Strangely I have 59 X-chromosome matches, 15 more matches than my mum and dad's combined X-chromosome matches. When I previously compared my match list with my mum and dad's matches I found that around 18% of my matches did not appear on my parents' match lists. This situation arises because some segments are what are known as compound segments. For an explanation of this phenomenon see this FTDNA FAQ. Presumably a similar phenomenon has occurred with my X-chromosome matches.

The following screenshot shows the chromosome browser comparison for my father and his three X-chromosome matches (click on the image to enlarge it). You can clearly see the X-chromosome that I have inherited from my dad.

The matching X-chromosome segment data can be downloaded from the Chromosome Browser view into a spreadsheet.  The X-chromosome is listed in the spreadsheet as chromosome 98. It turns out that my dad's other two X-chromosome matches both have very small matching segments sharing just 1.01 and 1.21 centiMorgans respectively. They are both predicted to be quite distant relations - a fourth to distant cousin and a fifth to distant cousin. Not surprisingly, as the segments are so small, neither of these two matches appear in my own match list. These are both likely to be very distant matches and it will probably not be possible to find a genealogical connection. However, you can see that it could potentially be very exciting if there were closer matches with much larger shared segments.

The following walkthrough of the new X-chromosome matching service has kindly been provided by Family Tree DNA. Dummy accounts have been used for the screenshots. Click on the images to enlarge them.

Here is the menu link to the Family Finder Matches menu.

On the Family Finder Matches page, there is a filter to show only X-matches.

When you use the X-match filter on a male Family Finder kit, you only get matches from the maternal X-chromosome.

Next, like other Family Finder matches you can expand the advanced bar for a match and click to add the match to the Compare in Chromosome Browser list.

Matches are added to the Compare in Chromosome Browser list. You could go right to the Chromosome Browser by clicking on the compare arrow at this point.

Next we can also go right to the Chromosome Browser.

The Chromosome Browser also lets you filter the match list by X-matches.

Here are three immediate relatives. The first two share X-chromosome DNA. The third (green) one does not.

When we scroll down to the X at the bottom, we see that X-matching is displayed for the first two but not the third.


Moving to the Advanced Matching page, X-chromosome matches have also been integrated.

X-match is an option that can be checked alongside other types of testing