The case of Moulay Ismael - fact or fancy

Image courtesy of Wikimedia Commons.

The Moroccan ruler Moulay Ismaïl Ibn Sharif (1634? or 1645? – 1727), also known as Moulay Ismael the Bloodthirsty or the Warrior King, is believed to hold the world record for the highest number of offspring for any man throughout history, but the facts are a matter of some debate. A contemporary report from 1704 records that Moulay had 600 sons by four wives and 500 concubines. Daughters by his four wives were allowed to live, whereas daughters born by his concubines were suffocated by the midwives at birth. This results in approximately 1171 children from 500 women in a reproductive time span of 32 years (25–57). A new scientific paper using computer modelling has attempted to determine whether such a feat was actually possible. Even using more conservative assumptions the authors concluded that the Emperor's reproductive success was plausible, but he would have had to have sex every day for thirty-two years. The authors do not seem to have made any allowances in their simulations for multiple births. They have also not taken into account his reproductive history before he became emperor as they consider that he would probably not have had a comparable harem by then. I'm not aware of any projects focusing on Moroccan Y-chromosome DNA, but it would be very interesting to see if there is a legacy of the emperor's reproductive success in the DNA of living males in Morocco today. If any males are interesting breaking the record, you might like to know that a breeding pool of between 65 and 110 women in your harem leads to the maximum reproductive outcome!

Here is the abstract from the paper:

Textbooks on evolutionary psychology and biology cite the case of the Sharifian Emperor of Morocco, Moulay Ismael the Bloodthirsty (1672–1727) who was supposed to have sired 888 children. This example for male reproduction has been challenged and led to a still unresolved discussion. The scientific debate is shaped by assumptions about reproductive constraints which cannot be tested directly—and the figures used are sometimes arbitrary. Therefore we developed a computer simulation which tests how many copulations per day were necessary to reach the reported reproductive outcome. We based our calculations on a report dating 1704, thus computing whether it was possible to have 600 sons in a reproductive timespan of 32 years. The algorithm is based on three different models of conception and different social and biological constraints. In the first model we used a random mating pool with unrestricted access to females. In the second model we used a restricted harem pool. The results indicate that Moulay Ismael could have achieved this high reproductive success. A comparison of the three conception models highlights the necessity to consider female sexual habits when assessing fertility across the cycle. We also show that the harem size needed is far smaller than the reported numbers.

The scientific paper by Elisabeth Oberzaucher and K Grammer in PLOS ONE (February 14, 2014 DOI: 10.1371/journal.pone.0085292) can be found here.

Update 15th April 2016
A new Morocco DNA Project has been established at Family Tree DNA. The project accepts Y-DNA, mtDNA and Family Finder results.

The BIG Y roll out – the SNP tsunami is on its way!

The genetic genealogy community has been eagerly anticipating the arrival of the so-called SNP tsunami for several months and it now seems that the first waves are starting to appear on the horizon. I was one of a select few genetic genealogists and bloggers who was invited to participate late on Thursday afternoon (UK time) in a private webinar led by Dr David Mittelman, Family Tree DNA’s Chief Scientific Officer, in preparation for the rollout of the first results from FTDNA’s next-generation sequencing BIG Y test.¹ During the webinar we were given a sneak preview of some sample results from the test and we had the opportunity to ask lots of questions. I don't know what it says about me and my enthusiasm for Y-SNP testing but I seemed to be the one asking most of the questions! I am very excited about the implications of comprehensive Y-chromosome sequencing. These tests will not only allow us to define the exact branching within each haplogroup but will also reach right down into genealogical time and will eventually make it possible to delineate recent branches of the Y-line and identify the common ancestor almost down to the exact generation.

Background
There are almost 60 million base pairs in the Y-chromosome but about half of it is full of repeating complexities which have yet to be deciphered. There are only around 20 million or so bases which are good candidates for sequencing.^{2, 3} The BIG Y test was designed to provide the most information at the most affordable price. The intention is also to provide information in the most clear and easy-to-use way.

There seems to have been some confusion about how much of the Y-chromosome is sequenced for the BIG Y test so I asked Dr Mittelman for clarification. He advised that the test sequences around 13.5 million bases on the Y-chromosome and provides results for between 11.5 and 12.5 million positions. It is not possible to give a precise figure because NGS results vary from person to person. This is an improvement on the spec that was advertised when the pre-sale was announced in November when a figure of 10 million bases was quoted.

When the BIG Y pre-sale was announced the coverage was advertised as 60x (the number refers to the number of times the Illumina machines read the sequence – the more reads the better). The information on the BIG Y FAQ page has since been updated and the coverage is now being advertised as “55x to 80x average coverage”.

The roll out
The BIG Y tests have been processed in the order in which they have been received, but some people had to supply new DNA samples so their tests will take longer. The first 100 results were released on Thursday 27th February, and there will be a gradual roll out of results running through to the end of March. We had been expecting all the BIG Y results to be released on the same day but it now appears that the anticipated tsunami will be more of a steady trickle of waves  – a slow-motion tsunami⁴  – rather than one giant flood of data. The following message is now being displayed on the personal pages of people who are awaiting their results:

"We expect that all samples ordered during the initial sale (last November & December) will be delivered by March 28th. We are processing samples in first come first serve order. If a sample doesn't pass quality control, we will place it in the next set of results to be processed as long as we have enough DNA sample. If we require an additional sample, we will send a new test kit and place the new sample in the first set to be processed when it is returned."

My dad is one of the people waiting his results but I did not place the order until the very end of the pre-sale period so his results will probably be amongst the last to be processed. Along with other people who have ordered the BIG Y test I received an e-mail this morning from Nir Leibovich, FTDNA's Chief Business Officer, apologising for the delay. He advised: "The entire FTDNA team has been working very hard over the last few months with high determination and many late nights. Launching a new product is always a challenge with many moving parts, some more predictable than others. Unfortunately we ran into some surprises beyond our control when one of our suppliers ran out of certain reagents we needed for running the Big Y product... We hope you will let the wonderful product we produced make up for delays that were needed to refine it! We have updated expected results dates on customer pages and will work around the clock to beat them." [Click here to read the full text of the e-mail.]

How many BIG Y tests have been ordered?

I asked if we could be given an idea of the number of BIG Y tests ordered. Although a precise figure was not revealed we were told that there had been "thousands" of orders and that "FTDNA have more Y than anyone else". I know that large numbers of orders have gone through some of the haplogroup projects. There have been 149 orders in the R1b-U016 Project alone and around 340 orders in the R1b-L21 Project. If you have ordered the BIG Y test do make sure you join the relevant haplogroup project so that the very helpful and knowledgeable volunteer admins can help you to understand your results. There is a list of Y-DNA haplogroup projects in the ISOGG Wiki:

www.isogg.org/wiki/Y-DNA_haplogroup_projects.

What is reported
Screenshots of the user interface and explanations of the various features can be seen on the BIG Y page in the FTDNA Learning Center:

www.familytreedna.com/learn/user-guide/other-test-results/big-y-page

FTDNA have a big internal SNP database with details of 36,562 known SNPs. Customers will be given a list of their results for all the SNPs in the database. They will be told whether they are ancestral or derived for each position, whether or not the SNP is on the tree, the genome reference co-ordinates, their genotype (their DNA letters) and the confidence rating.

There are three confidence levels for the SNP calls. High confidence means that all the reads essentially agree. Medium confidence means that the information looks good but it has to be manually curated. Low confidence indicates noisy data.

NGS coverage varies from person to person but it is expected that results will be provided for between 25,000 to 35,000 known SNPs per person. The amount of overlap with the tests from Full Genomes, Geno 2.0 and Chromo 2 is not yet known, but it is expected that the BIG Y will cover 90% of the SNPs in the Geno 2 and Chromo 2 tests. There are a handful of people in the genetic genealogy community who have tested with all four companies. Some people have also taken the Walk Through the Y test, the previous SNP discovery test from FTDNA which utilised Sanger sequencing. Once the BIG Y results have all been released and compared with the other tests the haplogroup project admins will be able to provide better information on the overlap between all the tests.

Customers will also be given a separate list of novel variants. These are defined as variants which differ from the reference sequence and which are not seen in the FTDNA SNP database. Thankfully the genome reference co-ordinates will be provided which will allow comparisons with SNPs identified in tests from other providers (with the exception of BritainsDNA who have not released the co-ordinates for their new S series SNPs [see my update from 4th March below]). Dr Mittelman does not yet know how many novel SNPs to expect per person. There is currently no function to compare novel variants in the database, but the test is very much a work in progress and he is open to suggestions for new ideas.

Information will not as yet be provided on INDELS (insertions and deletions), but experienced users will be able to extract the information from the raw data.

File formats
Two types of files will be provided: a VCF file and a BED file. These files are not currently available but should be ready for download some time next week.

The VCF (variant call format) file will consist of a list of all the variants identified, tagged by confidence and location. This is essentially a file showing all your differences from the reference sequence. For an explanation of the file format see the paper by Danecek et al (2011).⁵ A sample VCF file can be found in the 1000 Genomes Wiki:

www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41

The BED file is a text file which will provide a bunch of ranges for all the areas where information is available for which it was possible to make confident calls. This file will cover all the positions that passed quality control. A useful guide to BED files can be found here:

http://genome.ucsc.edu/FAQ/FAQformat.html#format1

Information about the VCF and BED file formats will be added to the BIG Y Learning Center page in due course.

The raw data files in the form of BAM/FASTQ files will also be made available in due course but a decision needs to be made on the best way to provide the data. I imagine that the data will almost certainly be made available in the cloud, perhaps taking advantage of the new Google Genomics service, or another similar application.

Single SNP testing
The value of a DNA test is in the comparison process and the BIG Y test is no exception. It is hoped that large numbers of new SNPs will be discovered, many of which will be in a genealogical time frame. Ideally a paired testing strategy should be adopted with two very distantly related men from the same subclade taking the test. If novel SNPs are found which identify particular family groups then in theory it should be possible to order single SNPs. Single SNPs can be ordered either direct from Family Tree DNA or from Thomas Krahn’s new company YSEQ. The two companies offer a complementary range of SNPs. Single SNPs cost $35 each from YSEQ and $39 each from FTDNA. However, I suspect that if you are able to identify a SNP in the last two hundred years or so that is only likely to be shared by half a dozen men it will not be cost-effective for any company to offer a single SNP test. Much will also depend on the number of new SNPs identified in a given tree. It might well turn out to be more economical for a surname project to club together and pay for BIG Y tests for project members representing branches of the tree that are of particular interest.

There were some misleading reports emanating from the FTDNA group administrators' conference in Houston last November which suggested that FTDNA had an upper limit of 2000 on the number of new SNPs on offer. Dr Mittelman clarifed that there is no limit on the number of new SNPs that can be ordered. There is a limit on the number of SNPs that can be tested at one time on the lab deck and that limit is 2000. FTDNA can in theory calibrate for use as many SNPs as they can order and design but it’s a question of managing the time.

SNP validation
I asked whether it was necessary for SNPs identifed through next-generation sequencing to be validated using Sanger sequencing. Dr Mittelman advised that with high-confidence SNPs the data is very clean and validation is not necessary. Sanger sequencing might be needed for medium- and low-confidence calls where there are flags and not a lot of data. He also advised that next-generation sequencing is being used to validate the SNPs on the new Geno chip.

Poznik et al (2013) (supplementary data) did in fact validate their NGS SNPs using Sanger sequencing and found a concordance rate of 99.92% with just one discordant genotype.²

White paper
Dr Mittelman advised that once all the data has been through quality control FTDNA will then produce a white paper which will provide information on some of the technical details of the test. The paper will cover performance metrics, value proposition, etc, and they also hope to look at mutation rates, something which is of great interest to the genetic genealogy community and a subject of considerable debate and disagreement! The paper should be out in the next four to six weeks or so.

The new Y-tree
BIG Y data is currently being released using the now very out-of-date and somewhat irrelevant 2010 Y-tree. Bennett Greenspan, the Chief Executive Officer of Family Tree DNA, advised in the webinar that they have had teams of people working on the new tree in collaboration with the Genographic Project. The new tree will be fully integrated with Geno 2.0. The tree needs to be ready from both the technical point of view and the graphical interface, and it seems that it is the latter which is proving more problematic. The tree is not dependent on the release of a scientific paper. Bennett advised that it might be ready in the “next several weeks”. When the new tree is finally launched, SNPs from the BIG Y will be automatically mapped on the new tree.

Third-party tools
FTDNA want to encourage people to use third party tools to get more out of their results and to come up with new ways to analyse the data. I have previously written about YFULL, a Russian company which provides a very nice Y-chromosome interpretation service. See my review from November 2013. The service is currently free if you agree to let them have your sequence, but it is expected that they will charge a fee at some point. The Full Genomes Corporation have also indicated that they might be able to analyse BIG Y data though no announcement has yet been made. With the increasing availability of Y-chromosome sequencing data no doubt other tools and analytical services will appear in the future.

Additional questions
After the webinar had finished I realised that there were still some questions that I hadn't asked and David Mittelman kindly provided me with some answers by e-mail.

Q: Are there any plans to provide results for Y-STRs?
A: Big Y does span STRs but that was not the intent of the product. So you can go to the VCF files or the raw data and you will see insertions and deletions at STRs, however, we do not plan to add this to the web page. I would much rather recommend our established and proven STR tests.

Q: Does the BIG Y raw data also include the full mtDNA genome?
A: No, it is comprehensive sequencing of the accessible parts of the Y chromosome. We, as you know, offer full mitochondrial sequencing as a separate product.

Q: Will a list of positive SNP results be posted on the Project SNP pages?
A: Yes, if they are on the tree

Preliminary analysis of BIG Y results
The initial results from the first batch of BIG Y tests were producing an unexpectedly high number of novel variants. Vince Tilroe has analysed some of these results and reports as follows on the U106 mailing list:

It looks like many of the novel variants shared by many Big-Y testees may belong to a particular subclade below R-L20, the haplogroup to which the primary source of the anonymous male donors belongs to, whose sequences were used to build the ChrY reference assembly, and many of those may even be exclusively private to him.  Greg Magoon had filtered them out from the 1KGP and FGC reports, but YFull had assigned "Y" identifiers to some of them.

I've compared novel variants from six Big-Y returns belonging to haplogroup R-L51 and below, and have so far identified 56 "novel variants" shared between at least two of them so far, but individual samples only had between 43 and 48 of those.  This pretty much cuts the typical true novel variant count in half, leaving a count that is more in line to what was expected for this process.  

Charles Moore, the U106 admin, has since received confirmation from another group that many of the novel variants are ancestral shared novel SNPs.

Other SNP tests
Full Genomes Corporation is the only other company which currently offers comprehensive Y-chromosome sequencing. Their test is substantially more expensive than the BIG Y but sequences more of the Y-chromosome. When the BIG Y raw data files become available it will be possible to do a comparison of the two tests. For comparisons of the available SNP tests, including the Geno 2.0 and Chromo 2 chip tests, see the SNP testing comparison chart in the ISOGG Wiki.

What are we going to do with all these SNPs?
I wrote in a previous blog post about the confusion of SNPs generated by the various SNP tests offered by the different testing companies. We now have a situation where four companies/organisations (Family Tree DNA/Genographic Project, Full Genomes, BritainsDNA/ScotlandsDNA and YFull) are maintaining their own proprietary SNP databases. There is a great need for an open access independent database of validated SNPs. ISOGG – the International Society of Genetic Genealogy – are probably in the best position to produce such a database, but they also have responsibility for maintaining the Y-SNP tree. The sheer amount of data generated from the next-generation sequencing tests will represent a significant challenge for the volunteer Y-SNP team. I do wonder if the present tree system is actually sustainable and, if in the long run, it might be better to report results as differences from the reference sequence, as is the practice for mitochondrial DNA. Whatever happens, we will have an interesting year ahead of us.

Are you interested in ordering the BIG Y or another SNP test?
My advice for anyone thinking of ordering SNP testing is to be patient and wait for a few months until all the results from the first batches of BIG Y and Full Genomes tests have been analysed and compared. Once this process has been completed we will have a better picture of the new Y-chromosome landscape and the shape of the tree, and it will then be possible to make an informed choice as to which test to purchase. Dr Mittelman advised that there are no immediate plans for another BIG Y sale. At the moment the priority is to bring down the turnaround time for new orders which is currently 8 to 10 weeks.

If you are interested in being involved make sure you join the relevant haplogroup mailing lists and Facebook groups. If you've tested at Family Tree DNA make sure you join the appropriate haplogroup or subclade project. The mailing lists and groups are usually linked from the haplogroup project websites. There is also a list of mailing lists and Facebook groups in the ISOGG Wiki:

www.isogg.org/wiki/Genetic_genealogy_mailing_lists

Further information
There is a set of BIG Y FAQs in the FTDNA Learning Center:

www.familytreedna.com/learn/y-dna-testing/big-y

The BIG Y page in the Learning Center provides screenshots and descriptions of the user interface:

www.familytreedna.com/learn/user-guide/other-test-results/big-y-page

Elise Friedman presented a webinar on 28th February on the subject of "Getting to know BIG Y Results". A recording of the webinar should eventually be made available in the webinar archive in the Learning Center:

www.familytreedna.com/learn/ftdna/webinars 

Update 2nd March 2014
The recording of the BIG Y webinar is now available online and can be accessed via this link (free registration required):

https://attendee.gotowebinar.com/recording/4739415541486853122

Update 3rd March 2014
I have put the full text of the letter from Nir Leibovich, in which he apologises for the lack of communication about the expected date of release of BIG Y results, online here. Despite expectations to the contrary, it was never FTDNA's intention to deliver all the results on 28th February. That was the date when the results were expected to start rolling out. It also transpires that there is currently no way for FTDNA to change the expected date on customers' personal pages until the expected date has actually passed.

I've received a number of comments about the problem with reagents which contributed to the delay. Dr David Mittelman has contacted me to clarify the issue:

"We sequence the Y using Illumina HiSeq equipment and we ran out of reagents to do this, and for a period in December and January, Illumina had a back order in place so we could not order more. Illumina filled the orders in the second half of January and we continued our work. Back orders happen and since Illumina is the only game in town, we don’t have other vendors to go to, when Illumina runs out. Of course we are now rolling out samples continuously and each week, in batches. Just like we do for all our products and just like Full Genomes and other companies do."

He adds

"In the meantime as more batches complete I am confident people will be thrilled with the data. We were able to deliver better specs than I originally promised and... we will not ship subpar results to anyone. Everyone will get great data."

Update 4th March 2014
Dr Jim Wilson of BritainsDNA/ScotlandsDNA has now released a spreadsheet with details of the genome reference co-ordinates for all the Y-SNPs on the Chromo 2 chip. See the following blog post from CeCe Moore for further details and to download the spreadsheet:

- Dr. Jim Wilson and ScotlandsDNA Release Y-SNP Positions for Chromo2

Thomas Krahn has now uploaded the 8000 or so novel markers to Ybrowse. This will allow the genetic genealogy community to cross-check all the new tree branches discovered by Jim Wilson earlier this year. Thomas Krahn has advised that his company YSEQ can design primers for some of the new SNPs as required.

Update 1st April 2014
Although the BIG Y .vcf and .bed files do not include mitochondrial DNA data, it now transpires that mtDNA is included in the BAM files. The mtDNA data can be extracted using third-party tools. For further details see the following blog post from Roberta Estes:

http://dna-explained.com/2014/04/01/mitochondrial-dna-results-from-the-big-y-test

See also Felix Chandrakumar's blog post on the YFull interpretation service which includes a report on the mtDNA data extracted from his BIG Y BAM test:

http://www.fc.id.au/2014/03/yfull-y-chr-sequence-interpretation.html

Update 29th August 2014
Family Tree DNA have published a white paper outlining the methodology used for the test and the analysis.

Footnotes and references
1. For links and resources on next-generation sequencing see the ISOGG Wiki page: www.isogg.org/wiki/Next_generation_sequencing

2. A good description of the Y-chromosome reference sequence is provided by Poznik et al (2013) Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. Science 2013 341; 6145: 562-565:

The Y-chromosome reference sequence is 59.36 Mb, but this includes a 30-Mb stretch of constitutive heterochromatin on the q arm, a 3-Mb centromere, 2.65-Mb and 330-kb telomeric pseudoautosomal regions (PAR) that recombine with the X chromosome, and eight smaller gaps.

This effectively leaves around 22.98 Mb of “assembled reference sequence”. If you can get hold of the Poznik paper it contains a very nice figure (Figure 1. Callability mask for the Y-chromosome) showing the regions of the Y-chromosome in which reliable genotype calls can be made.

On a side note, 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 1; Y 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.

3. Further papers of interest are listed on the Y-chromosome page in the ISOGG Wiki: http://www.isogg.org/wiki/Y_chromosome

4. The term "slow-motion tsunami" was coined by Charles Moore, the administrator of the R1b-U106 project:  https://groups.yahoo.com/neo/groups/R1b1c_U106-S21/conversations/messages/21323

5.  Danecek P, Auton A, Abecasis G et al (2011). The variant call format and VCFtools. Bioinformatics 27 (15): 2156-2158.

© 2014 Debbie Kennett

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!

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.