Richard III and the use of DNA as evidence

The long-awaited scientific paper with details of the Richard III DNA analysis has finally been published. Twenty-two months have passed since the memorable press conference at the University of Leicester in February 2013 when Richard Buckley, the lead archaeologist on the Richard III dig, declared that "It is the academic conclusion of the University of Leicester that beyond reasonable doubt the individual exhumed at Greyfriars in September 2012 is indeed Richard the III, the last Plantagenet king of England." However, at that time most of the DNA work had yet to be done and none of the findings had been written up and published in peer-reviewed journals, though the evidence already seemed to be overwhelming. Since then five peer-reviewed papers have been published on different aspects of the study (see the list below). The DNA paper by Turi King et al “Identification of the remains of King Richard III” has been published in the journal Nature Communications and can be found here:

http://www.nature.com/ncomms/2014/141202/ncomms6631/full/ncomms6631.html

It is accompanied by 56 pages of supplementary material with all the technical details about the DNA testing (including Richard III's Y-DNA and mtDNA haplogroup assignments) and extensive genealogical information. This is perhaps the first time that a scientific paper has included such detailed genealogical content. It is well worth reading the paper in its entirety together with all the accompanying material. It is a masterclass in how to do ancient DNA research and how to correlate DNA with genealogical evidence. In addition, the University of Leicester have issued an official press release and this includes further information about the study as well as links to a number of interesting videos showing how the genetic and genealogical research was done.

The DNA results have been extensively covered in the media, with most reports, such as this one from the BBC, focusing on the lack of  a Y-DNA match and the possible implications for the monarchy, though many people have also commented that it might perhaps have been more of a surprise if the Y-DNA had matched!

In what is believed to be the first analysis of its kind, the authors brought together the genetic and genealogical evidence, along with previously reported non-genetic evidence, and used a probabilistic assessment to determine whether or not the remains found in the Leicester car park were actually those of Richard III. Such analyses are often presented in courtrooms but have never previously been used to answer genealogical and historical questions. I wonder if this might be the start of a new trend!

The statistical analysis was done by my colleagues at University College London, Professor Mark Thomas and Professor David Balding, working alongside Turi King. Two competing hypotheses were investigated:

                                       Hypothesis 1 (H1) Skeleton 1 is Richard III

                                       Hypothesis 2 (H2) Skeleton 1 is not Richard III

The analysis took into account the genetic evidence from the Y-DNA and mtDNA testing and the previously reported non-genetic evidence (radiocarbon data, estimated age at death, sex, presence of scoliosis, and presence of wounds suffered around the time of death). People always tend to over-estimate the importance of DNA test results which is why in genetic genealogy we always emphasise the need to use DNA in combination with genealogical evidence. DNA can effectively prove that two people are not related on a specific line, and it can generally be used to confirm relationships with very close blood relatives. However, for more distant relationships DNA can only indicate that two cousins share a common genetic ancestor. DNA cannot give us the precise date when that ancestor might have lived and there is always a very wide range of possible dates. Consequently DNA evidence can broadly support a hypothesis but is generally not conclusive in its own right. This is particularly the case with mitochondrial DNA testing. Although it is now possible to sequence the whole mitochondrial genome, mtDNA has a low mutation rate and two people can have an identical mtDNA sequence yet sometimes share a common ancestor who lived several thousand years ago.

The same limitations apply to the case of Richard III. Contrary to popular belief, the mtDNA match on its own did not "confirm" Richard III's identity; it was merely one of a number of pieces of supporting evidence which had to be considered in combination with the conflicting evidence from the lack of a Y-DNA match. Here's an extract from the UCL press release:

Contrary to what many may have expected, the genetic evidence alone is not conclusive, partly because only the mtDNA and Y chromosome are suitable for comparing distantly related individuals. In fact, the Y chromosome, did not match presumed male-line relatives of the king, and so counted against Hypothesis 1. However, this non-match could be explained by one or more false-paternity events (where the biological father is not the father recorded in family history) over 19 generations; such events are not uncommon so the male-line data only weakly favoured Hypothesis 2. The mtDNA evidence was found to support Hypothesis 1, but overall the genetic evidence was not enough to confidently identify Skeleton 1 as Richard III. 

However, when combined with the non-genetic evidence, even after making assumptions intended to count against Hypothesis 1, the authors obtained an overall likelihood ratio of 6.7 million. Even a sceptical translation of this likelihood ratio corresponds to a 99.9994% probability that ‘Skeleton 1’ is the remains of King Richard III, which the scientists believe puts the matter beyond reasonable doubt.

It would have been interesting to see how the probabilities would have worked out if there had also been a Y-DNA match. There is still scope for further DNA testing on descendants of other Y-lines from the higher branches of the tree if suitable candidates can be identified. Now that the Y-DNA results are in the public domain it's also possible that someone might take a DNA test and discover that he matches the Richard III Y-DNA signature which could perhaps encourage genealogical research to determine whether or not there is a connection.

Richard III's DNA
Richard III belongs to Y-DNA haplogroup G2 (G-P287). His 23-marker Y-STR profile has already been uploaded to the public ySsearch database and is available via two different ySearch IDs:

- Richard III ySearch ID 45AER

- Richard III ySearch ID B8YDF

I presume that the authors followed the NIST standards for reporting STR markers. There are different ways of counting the markers and different companies have reported results in different ways. Family Tree DNA have not yet converted their database to the NIST standards. When comparing the Richard III signature on Ysearch with FTDNA results an adjustment would need to be made to the STR marker known as GATA H4.1. See the Marker Standards page on the Sorenson Molecular Genealogy Foundation website for a conversion table:

http://www.smgf.org/ychromosome/marker_standards.jspx

Richard III's mtDNA places him in haplogroup J1c2c3, a new branch of J1c that is defined by the mutation A12397G. This new subclade was added to the mtDNA tree with the latest build of Phylotree thanks to the work of Ian Logan (see his posting on the Genealogy DNA mailing list). Richard III's mtDNA profile (control region only) has been uploaded to Mitosearch:

- Richard III's  Mitosearch ID T227G

All the mitochondrial sequences generated from the Richard III study have been deposited in GenBank under the accession codes KM676292 to KM676294. I cannot find the sequences on GenBank and presume they must have only been submitted very recently so it will take time for them to appear. In the meantime Ian Logan has provided a list of all publicly available J1c2c sequences that have been uploaded to GenBank and www.openSNP.org.

Other peer-reviewed papers on Richard III
The DNA paper is the sixth in a series of papers resulting from the Richard III study. The other papers are:

1)  Buckley R et al. The king in the car park’: new light on the death and burial of Richard III in the Grey Friars church, Leicester, in 1485. Antiquity 2013; 87 (336): 519-538. 

2)  Mitchell PD et al. The intestinal parasites of King Richard III. The Lancet 2013; 382 (989): 888.

3) Appleby J et al. The scoliosis of Richard III, last Plantagenet King of England: diagnosis and clinical significance. The Lancet 2014; 383 (9932): 1944.

4)  Lamb AL et al Multi-isotope analysis demonstrates significant lifestyle changes in King Richard III. Journal of Archaeological Science 2014: 50: 559-565.

5) Appleby J et al. Perimortem trauma in King Richard III: a skeletal analysis. The Lancet, Early Online Publication, 17 September 2014.

© 2014 Debbie Kennett

23andMe relaunches health reports in the UK

It has been announced today that 23andMe have reintroduced their health test in the UK. The 23andMe test has been available in the UK since the company launched back in 2006, but in November 2013 23andMe were asked by the Food and Drugs Administration in America to withdraw their health reports pending regulatory approval. Existing customers were able to retain access to their health reports but new customers who ordered a kit on or after 22nd November 2013 were only able to receive the ancestry reports. The health reports were restored in Canada in October this year. The UK is now the second country to have renewed access to the 23andMe health reports. UK customers who ordered a 23andMe ancestry test between 22nd November 2013 and 1st December 2014 are now able to receive the new health reports free of charge. New customers in the UK who order a 23andMe test from today onwards will now have access to both health and ancestry reports. The 23andMe UK website can be found at: http://www.23andme.co.uk This URL redirects to: https://www.23andme.com/en-gb/

There has been a slight increase in price. The new test now costs £125 but this price is inclusive of shipping. The old test cost cost $178.95 ($99 for the test + $79.95 for shipping) which worked out at around £114 per test at the current exchange rate.

The new test is a pared down version of the previous test as can been in the comparison below.

New UK 23andMe health test	Old 23andMe health test
43 inherited conditions	53 inherited conditions
12 drug responses	24 drug responses
11 genetic risk factors	122 health risks
38 traits	60 traits

A full list of the reports offered can be seen  here: https://www.23andme.com/en-gb/health/reports/#traits

I have access to a UK account which has the new health reports and I've had a chance to have a look around and see what is offered. Previously 23andMe used a star system to grade the confidence levels that they had assigned to reports. In my own 23andMe account I have reports that are graded from one star up to four stars. The grading system is explained as follows:

Four stars: Established Research. At least two studies examined more than 750 people with the trait or condition and/or the associations are widely accepted in the scientific community. The reports may cover rare conditions or include variants that do not greatly influence a person's absolute lifetime risk for a condition.

Three stars: Preliminary Research. More than 750 people with the condition were studied, but the findings still need to be confirmed by the scientific community in an independent study of similar size.

Two stars:  Preliminary Research. Fewer than 750 people were studied. Multiple large studies are needed to confirm these findings.

One star: Preliminary Research. Fewer than 100 people were studied. Multiple large studies are needed to confirm these findings.

With the new test only four-star reports are shown for genetic risk factors, drug responses and inherited conditions. The trait reports have star ratings of two, three or four stars.

Some four-star health reports are no longer available (for example, diabetes, age-related macular degeneration, bipolar disorder and stomach cancer). It is not clear why these reports are now excluded whereas potentially more controversial reports such as Alzheimer's are still available.

The display of the health reports has changed. 23andMe no longer show your risk compared to the average. This was previously presented in a somewhat alarming and confusing way so that all the conditions for which you had a higher than average risk factor, however small, were highlighted in red as though they were potentially a cause for concern. For example, in my own report I supposedly have a 0.2 % risk of bipolar disorder compared to an average risk of 0.1%. In contrast I have a 50.6% risk of obesity compared to an average risk of 59%, but because my risk was lower than average, it was not picked out in the report as being of special concern even though I am much more at risk of obesity than I am of bipolar disorder.

I had hoped that a test aimed at the UK market would be customised with links to UK resources. However, as far as I can gather most of the resources are in fact American resources. Confusingly when the word "national" appears it is used to refer to the US and not the UK. Similarly 23andMe advise talking to a genetic counsellor if you have concerns about your results, but they provide a link to an American company called InformedDNA and a link to the US National Society of Genetic Counselors. It would have been much more helpful to provide information about genetic counsellors in the UK and links to NHS resources.

Regardless of these minor quibbles, it's good news that the 23andMe health reports are once again available in the UK.

I have provided links to further coverage of the story below:

- 23andMe press release: http://mediacenter.23andme.com/en-gb/blog/2014/12/01/23andme-brings-ce-marked-personal-genome-service-to-the-uk/

- BBC interview with Anne Wojcicki: http://www.bbc.co.uk/news/science-environment-30288939

- BBC: http://www.bbc.co.uk/news/science-environment-30285581

- The Guardian: http://www.theguardian.com/technology/2014/dec/02/google-genetic-testing-23andme-uk-launch

- Daily Mail: http://www.dailymail.co.uk/health/article-2856789/125-DNA-test-checks-100-conditions-assess-risk-Alzheimer-s-cancer-going-bald.html

- GenomeWeb: https://www.genomeweb.com/microarrays-multiplexing/23andme-gets-ce-mark-launches-pgs-offering-uk-125

- The Verge (US): http://www.theverge.com/science/2014/12/1/7316089/23andme-expands-to-the-uk-despite-us-restrictions

- PHG Foundation: http://www.phgfoundation.org/news/16442/

Further reading
- My series of articles on my 23andMe test - Note that my test was done on the Version 2 chip before the launch of the new test on the v4 chip in the UK
- Tim Janzen's autosomal DNA testing comparison chart

Death of Valerie Hedgecock née Cruse

I am very saddened to learn of the death of Valerie Hedgecock née Cruse. Valerie is descended from the Ogbourne St George Cruse tree.  An obituary has been published in The Argus, her local newspaper in Brighton, Sussex:

http://www.theargus.co.uk/announcements/deaths/deaths/11575181.Valerie_HEDGECOCK/

Valerie had been researching her family tree for many years, and I'd corresponded with her on many occasions. She very kindly made a generous contribution towards the Cruwys/Cruse/Cruise DNA Project, and the last time I heard from her she was still maintaining an active interest in the Cruse research.

I would like to pass on my condolences to Valerie's family and friends.

With thanks to Geoffrey Lloyd

Family Tree DNA holiday sale

Family Tree DNA have announced that their holiday sale is now on. The Family Finder test is reduced to $89 (£57). The 37-marker Y-DNA test is $129 (£82). The mtDNA full sequence test is $169 (£108). The Big Y test for advanced users is $525 (£334). A full list of prices is shown below. Upgrades are also included in the sale so it's a good opportunity to upgrade your kit if you've not already done so. E-mails are in the process of being sent out to group administrators. FTDNA customers will be notified separately. The sale prices are provided below. There is a new mystery reward discount scheme so you might be able to get a further reduction on the sale prices. If you receive a mystery award and you are unable to use it for any reason do make sure you share it with the fellow project members. I've copied below for reference the e-mail that was sent out to the genetic genealogy bloggers.

Family Tree DNA Sale

For this holiday season we’ve got an exciting new twist to the sale - Mystery Reward discounts! The Mystery Reward will be a randomized discount (up to $100 off) that can be applied on top of the already reduced Holiday Sale prices. 

The Mystery Reward icon will appear on testers’ myFTDNA dashboard each week and the code will expire the night before the next Mystery Reward appears. When you click the icon, you'll to go to the reward page to open the Mystery Reward for savings up to $100. We’ll also send an email notification to the kit’s primary email address when a new code is available for use or sharing.

Best of all, there will be a new Mystery Reward every week. Customers can use the discount or can share it with a friend. 

In addition, all customers who have purchased the Big Y test will receive a coupon for $50 off a Big Y test. That's ON TOP of the sale price. Yes, you read that right. A coupon that can be used on top of a sale price. The coupon can also be "regifted," meaning shared with a friend or fellow project member.

Thank you for helping us to generate excitement about the holiday sale. We appreciate all the cooperation you give us throughout the year!

Here are the prices:

Improved cousin matching at AncestryDNA

Yesterday afternoon AncestryDNA rolled out their much anticipated new matching algorithms. When I wrote last week about AncestryDNA at Back To Our Past in Ireland I reckoned that I had about 7400 matches (148 pages of matches at 50 pages per match). Now when I check into my AncestryDNA account I find that I have a much more manageable 1100 matches (22 pages of matches). This represents an 85% reduction in the number of matches. Previously I had matches with 20 people who were predicted to be fourth to sixth cousins. Now I have just seven matches with fourth to sixth cousins. The remainder of my matches are predicted to be fifth to distant cousins. Thirty-three of these distant cousins are described as high confidence matches. The remainder are shown as good confidence matches. Here is a screenshot of my AncestryDNA home page.

As I side note I find that I can no longer access AncestryDNA from my Ancestry.co.uk subscriber account. When I click on the DNA button I am taken to the usual page which advises me that AncestryDNA is not yet available outside the United States.

I used to be able to click on the orange DNA.ancestry.com button to view my DNA results. Now when I click on this button I get redirected to the URL http://dna.ancestry.com/interim but the page doesn't load. After much frustration yesterday I eventually discovered that I could access my results by going direct to http://dna.ancestry.com. It may be that these changes have been made to prepare the website for the launch in the UK and Ireland. (The AncestryDNA test is currently only available in the US, though a few non-Americans like me managed to place an order in the early beta-testing days before shipping outside the US was stopped. It is also possible to order a kit by using one of the package forwarder services.)

Ancestry have done a good job of providing some FAQs to explain how the new matching process works in easy-to-understand language.

They have also provided a very informative table showing the explanation of the different confidence levels. For the first time they have given us the all-important information on the range of shared centiMorgans for each of the confidence scores.

In addition there is a very detailed technical white paper which explains the methodology behind the new phasing and matching algorithms. Phasing is the process of determining which DNA you inherited from your mother and which DNA inherited from your father. There is a more detailed explanation in the ISOGG Wiki. If you have tested yourself and your parents then you can do your own phasing but currently none of the testing companies use phased trio data. The Ancestry approach involves inferring the inheritance from reference populations. It is a computationally intensive exercise and Ancestry are currently the only company who phase their customers' data before doing the matching. The new matching algorithms are based not just on the amount of DNA shared but also on the frequency of the segments in the database. Ancestry have found that there are some segments of DNA that are shared by large numbers of people and these segments are likely to be indicative of ancient ancestry rather than the sharing of a recent ancestor in a genealogical timeframe. Because 99.% of the AncestryDNA database is in America I've never been able to do anything with my matches, but the new algorithms certainly seem to be a very useful improvement, and I hope that I will reap the benefits when Ancestry start to sell their test in the UK.

The old matches have not yet been lost completely and it is now possible to download a spreadsheet with a list of all your Version 1 matches. This facility will be available for a limited time. The spreadsheet lists the Ancestry user names of your matches, the user names of the admins of the accounts, and the predicted relationship range. There are additional columns labelled "Starred", "Viewed", "Hint" "Archived" and "Note". The spreadsheet is available via the settings menu with the little gear icon on your AncestryDNA home page. When I downloaded the spreadsheet I found that I actually had 9449 matches. I'm not quite sure why there were so many more matches in the spreadsheet than I'd previously estimated by extrapolating from the number of pages in my match list. However, this new figure actually means that I've seen an 88% reduction in the number of my matches. It would be helpful if Ancestry could let us have the ability to download a spreadsheet with a list of all our new matches as well, and preferably with additional details such as the matching surnames. Both 23andMe and Family Tree DNA allow us to download a list of our matches. It is much easier to scan through a spreadsheet rather than clicking on each individual match page.

DNA Circles
The other new feature that has been introduced with this update is called DNA Circles. I'm not yet in any DNA Circles so I can't explore how this feature works. However, Roberta Estes, Blaine Bettinger, Judy Russell and Diahan Southard have all written about the DNA Circles and I suggest you read their articles to find out more:

- Ancestry's better mousetrap - DNA circles by Roberta Estes
- Goodbye false positives! AncestryDNA updates its matching algorithm by Blaine Bettinger
- Changes at AncestryDNA by Judy Russell
- AncestryDNA Review and Breaking News! Updates Launched by Diahan Southard

There is also a post on the Ancestry blog with a description of the new feature:

New AncestryDNA technology powers new kinds of discoveries

Ancestry have prepared some FAQs about the DNA Circles and have published a detailed white paper explaining the methodology. The white paper is a very interesting read but it is currently very hard to find if you are not included in any DNA circles. To get to the white paper go to your matches page (not your DNA home page) and click on the question mark. Click on the tile with the magnifying glass labelled "What can I do with my DNA matches". Scroll down to the paragraph headed "Find DNA evidence for your genealogical research". At the end of that paragraph click on the green underlined lettering "Learn more about DNA Circles".  That takes you to a page explaining how the DNA Circles are created. At the very bottom of the page there is a green link labelled "Check out our DNA Circles White Paper". I hope that Ancestry will make the paper easier to find so that more people will be encouraged to read it. Note that both the AncestryDNA white papers can only be accessed by Ancestry subscribers. (Thanks to Ann Turner on the ISOGG list for alerting me to this workround which was first posted in the Ancestry forums by Laura Davenport.)

It will be interesting to see how these circles work when AncestryDNA start to roll out their test in the UK and Ireland. I can see that the feature will work well for American genealogists. This is because a large percentage of the Ancestry subscriber base in the US appears to have deep roots in Colonial America, and they all trace back to a small founding population. Consequently Americans will often be related to each other on multiple ancestral pathways in the last three or four hundred years which greatly increases the chances of them sharing DNA segments and finding connections. It also seems to be the case that family sizes in America in historical times were much larger than they were in the UK, which means that the gateway couples in America can often have literally thousands of living descendants. To put this problem into perspective it is cautionary to remember that the population of America in 1700 was just over 250,888, whereas the population of England in 1700 was over six million. It was not until some time after 1851 that the population of the US exceeded that of Great Britain and Ireland. We therefore have a much smaller population of living people who are tracing their ancestry back to a much larger population pool. Nevertheless I shall be very interested to see how this feature works when the AncestryDNA test finally becomes available over here.

Footnotes
1. The Gendocs website has a useful page on population statistics in the UK and Ireland over time:
http://homepage.ntlworld.com/hitch/gendocs/pop.html

2. For statistics on the US population see the Wikipedia article on the demographic history of the United States: http://en.wikipedia.org/wiki/Demographic history of the United States

© 2014 Debbie Kennett

The ongoing saga of BritainsDNA and the BBC

I wrote back in March this year about yet another misleading interview with Alistair Moffat of BritainsDNA which had appeared on the Mark Forrest programme on BBC radio. I wrote to the BBC at the time to complain about the interview. Since then I've been engaged in a lengthy exchange of correspondence with the BBC. I eventually escalated my complaint to the BBC's Editorial Complaints Unit. They conceded that the interview did constitute "a breach of editorial standards". A summary of my complaint and of the findings of the Editorial Complaints Unit was published on the BBC Complaints website on 29th October. However, the summary was somewhat misleading and does not tell the full story. We've devoted a whole page on the UCL Debunking Genetic Astrology website to our correspondence with the BBC about Alistair Moffat and BritainsDNA. I've now added all my correspondence with the BBC dating from 1st May through to the present to our BBC complaints page in order to ensure that the information is available as a matter of public record for all interested parties.

It has been a somewhat frustrating and protracted process. Although the ECU classified my complaint as "resolved", the main substance of my complaint fell outside the ECU's remit.  I wanted to find out how Alistair Moffat had been invited onto the Mark Forrest show to talk on the subject of Viking DNA when he has no expertise in the subject. I was also concerned about the sheer amount of exposure given to Alistair Moffat and his company by the BBC in the last couple of years and the BBC's failure to give qualified experts the right to respond to his inaccurate, misleading and sometimes ludicrous statements. Richard Hutt, the BBC Complaints Director, advised me in an e-mail dated 1st May

However it isn’t open to me to look at the circumstances which led to Mr Moffat being booked to appear, or the question of whether others might have been booked instead. Generally speaking, the choice of guests is a matter of editorial discretion and does not fall within the remit of the ECU. In practice that means I can consider whether what was said during the broadcast met the BBC’s editorial standards but not whether the programme ought to have invited him to participate. 

You have also raised the issue of Mr Moffat’s appearances across the BBC over a number of years. Again, this falls outside our remit – we are limited to considering specific items broadcast or published by the BBC and are not able to investigate claims of editorial breaches over time and across output. I should also note that the complaints framework asks that complaints are logged within 30 days of broadcast, whereas most of the examples cited in the document you point to were aired some time ago.

In the final stage of the complaints process I sent an e-mail to the BBC Trust on 26th September asking them to investigate these outstanding concerns. I have been told that they will let me know by 21st November whether or not they will take up my case. It is somewhat frustrating that there is no mechanism within the existing BBC complaints framework to deal with such issues. I shall await with interest to see how the BBC Trust respond.

AncestryDNA at Back To Our Past

As mentioned in my previous blog post, I made a special effort at the Back to Our Past show in Dublin to attend the presentation by Mike Mulligan, International Product Manager of Ancestry.com, on "AncestryDNA - DNA testing for family history".

Before I discuss the presentation I just want to start off by providing some background on Ancestry's autosomal product and their entry into the marketplace which you can skip if you're already familiar with the situation in the US. Autosomal DNA tests look at thousands of markers from across your entire genome and can be used to find matches with genetic cousins on all your family lines. These tests are most effective at making connections within the last five or six generations. AncestryDNA is one of three companies which currently offer such a test. 23andMe introduced a cousin-finding feature to their autosomal DNA test in the autumn of 2009. The 23andMe test can be purchased online in fifty-six countries including the UK and Ireland. Family Tree DNA's Family Finder test has been on sale worldwide since February 2010. AncestryDNA began to roll out their autosomal DNA test in the US in the autumn of 2011. They kickstarted their autosomal DNA database by offering free tests to over 10,000 selected subscribers. The test was officially launched in the US on 3 May 2012. I filled out the form to register my interest and received an invitation to order a test in June at the special introductory price of $99. Although the test was at that time supposedly restricted to the US, I was still able to place an order from the UK. This loophole has since been plugged, though you can still circumvent the restriction by using a package forwarder. Tim Janzen has compiled a very useful autosomal DNA testing comparison chart for the ISOGG Wiki which provides further details of the different tests.

The AncestryDNA database has grown very rapidly in the last two years and they have now tested over 500,000 people. Ken Chahine, Senior Vice President and General Manager of AncestryDNA, revealed in a recent presentation that the company are currently selling an astonishing 30,000 to 50,000 DNA kits every month. If the growth continues at the existing rate, they are expecting the database to grow to one million probably by the middle of 2015. This is all well and good if you are American, but a large all-American database is unfortunately not much help for the rest of us unless we are trying to reconnect with the descendants of family members who emigrated to the US in the last 200 years or so. Autosomal tests do also give us matches with more distant cousins, and in fact most of our matches are with people who are predicted to be fifth or more distant cousins simply because we have so many of them. However, finding the genealogical connection with these distant cousins can be difficult if not impossible. While some genealogists are lucky enough to be able to identify all of their 32 great-great-great-grandparents there are probably very few people who can name all of their 64 great-great-great-great-grandparents. I currently have over 7400 matches at Ancestry DNA. Twenty of these matches are with predicted fourth to sixth cousins and these matches have been assigned a confidence level of 95%, which means that there is a very low chance that these matches will be false positives. However, none of my fourth to sixth cousins at AncestryDNA have surnames in common with me and their trees are all in America whereas all my ancestry is in the British Isles so it is an impossible task trying to establish how we are related. My remaining matches are all predicted to be fifth to eight cousins who have been assigned as moderate confidence or low confidence. AncestryDNA add the following note of caution about these distant matches: "Even though there is a 50% (or less) chance that you are related, these matches are still good leads." Nevertheless it seems to me that it would be a futile exercise trying to work my way through all these 7000+ matches with little hope of ever identifying the genealogical relationship, if any. Ancestry do a have a potentially useful "shaky leaf" feature which could help in this situation. If you and your matches have both uploaded trees Ancestry will search the trees for you and will identify the ancestral couples who appear in both trees who might have contributed the shared segment of DNA. However, I do not yet have the benefit of any of these shaky leaf hints.

People are typically getting many more matches at AncestryDNA than at 23andMe and FTDNA, even when you take the comparative sizes of the databases into account. The reason for the large number of matches is that AncestryDNA have set a much lower matching threshold. Ancestry recently announced plans to introduce a new improved matching algorithm, and it is expected that this feature will be rolled out some time before the end of the year. As a result, we can expect our match lists to be drastically pruned but it will be a change that is very much for the better. Blaine Bettinger, who writes The Genetic Genealogist blog, attended a bloggers' summit hosted by AncestryDNA in San Francisco in October where the attendees were given much more detailed information about what to expect. Blaine has provided an excellent write-up in his blog post "Finding genetic cousins - separating fact from fiction". I shall be interested to see how this new feature works out.

We were told at Back To Our Past that the AncestryDNA autosomal test will be launched in the UK and Ireland some time next year. The date has not yet been revealed but my money is on a launch in April 2015 at Who Do You Think You Are? Live in Birmingham. Although the AncestryDNA test is lacking many of the essential tools that we take for granted at Family Tree DNA and 23andMe (for example, a chromosome browser and the ability to download your segment data), Ancestry do have the advantage of a large subscriber base of over 250,000 people in the UK and Ireland. Many of these people will no doubt be tempted to take the test and a lot of them would probably have never considered testing at FTDNA or 23andMe. Family Tree DNA now offer a free autosomal transfer programme though it's necessary to pay a small fee of $39 to unlock additional matches and features. Anyone who tests at AncestryDNA will be able to transfer their results to FTDNA so that they can take advantage of all the extra tools and receive matches in FTDNA's international database. Another option for people who have tested at Ancestry and who wish to do more detailed comparisons is to upload their results to GedMatch, which is a free third-party website. GedMatch also have many additional useful features, such as a variety of admixture analyses, though there is a small fee to access some of the advanced tools. GedMatch also serves as a database where you can compare your results with people who have tested at all three testing companies, though the vast majority of people in the database are currently Americans. DNAGedcom provides a further range of tools for advanced users including Don Worth's wonderful Autosomal DNA Segment Analyser.

Now to get back to the subject of the AncestryDNA presentation at Back To Our Past. Mike Mulligan provided an introduction to autosomal DNA testing in a presentation that was pitched very much at a basic level. I was interested to learn that the Ancestry.com headquarters are in Ireland. In order to prepare for the launch, testing has been done on eighty people who are either Ancestry.com employees or their friends and family members. In contrast with my experience, Mike seems to have found quite a few close matches in the database. I suspect this is because a lot of Americans have quite recent Irish ancestry so people in Ireland are much more likely to get meaningful matches in the database. Mike has also had matches with a number of adoptees, and he's been corresponding with them and trying to help them. The price of the AncestryDNA test has not yet been decided. Mike mentioned that Ancestry did not want to give out segment data because of what they perceive as potential health issues.

Mike Mulligan of Ancestry.com

Mike showed us some examples of the ethnicity reports provided by AncestryDNA. I've included photographs of a couple of the slides below but unfortunately the lighting at the RDS was rather bright and, even with my best attempts at upping the contrast in Photoshop, I'm afraid the images are still rather over-exposed.

The most interesting slide was one which showed a comparison of the ethnicity estimates received by some of the Ancestry employees in Ireland who were included in the "friends and family" testing. Although it was only a very small sample it seemed apparent that the people who were from the north west of Ireland were the ones who came out with the highest percentages of  "Irish". Most of the Ancestry employees were between 70% and 100% "Irish" though one person was only 29% "Irish". However he had a Scottish great-great-grandparent and also some English ancestry.

I'm personally not convinced that the AncestryDNA test is reliably able to distinguish between "Irish" and "British" DNA. According to my Ancestry DNA test my percentages are:

47% Europe West
21% Great Britain
20% Ireland
8%   Iberian Peninsula
4%   Trace regions

I have one Irish ggg grandmother, one Scottish ggg grandfather, and all my remaining known ggg grandparents are from England. However, I do have some gaps in my family tree, including a London-born great-grandfather whose parentage is unknown and who is my biggest brick wall, so it's possible that I do have some more distant Irish ancestry of which I'm unaware, though not enough to account for such a high percentage. I also have a surprisingly low percentage of "British" DNA. I've found that lots of Americans come out with very much higher percentages of "British" than me!

Ancestry.com also had a stand at Back To Our Past and the displays provided information about the Ancestry DNA test. The stand was always busy when I went past but I was surprised to see them advertising the test without being able to offer visitors the chance to buy a kit.

The Ancestry.com stand at BTOP.

What's your story? Ancestry.com at BTOP.

On the Monday after Back To Our Past the ISOGG members who had helping out at the show were treated to a special day out which had been arranged with meticulous detail by Gerard Corcoran, the ISOGG regional representative for Ireland. (I wrote about our day out in my previous blog post.) Gerard had arranged for us to have dinner on Monday evening at Ka Shing, a Chinese restaurant in Dublin city centre. The evening was hosted by Ancestry.com, and three of the Ancestry team joined us for the dinner: John Halvey, Operations Manager, Ancestry International; Eric Booth, Senior Product Marketing Manager, International; and Mike Mulligan, the International Product Manager who had given the presentation on Saturday at BTOP. The evening provided us with an excellent opportunity to quiz the Ancestry staff about their autosomal DNA test. I was sitting next to Mike Mulligan. Mike had mentioned in his presentation that his DNA test had "confirmed" a genealogical connection with a sixth cousin once removed which had shown up as a shaky leaf hint. However, such a statement is highly misleading as it's quite possible that the shared DNA could have come from a different ancestor altogether. You can only verify such relationships by having access to the underlying segment data, and using techniques like triangulation and chromosome mapping to determine which ancestral couple contributed the matching DNA segment. For examples of how the AncestryDNA leaf hints have the potential to lead people up the garden path have a look at Heather Collins' blog post My AncestryDNA review: a cautionary tale and CeCe Moore's article AncestryDNA, raw data and Rootstech. Mike conceded that this is potentially a problem. He told me that Ancestry have done a lot of research and it is apparent that the vast majority of their customers are not interested in doing the advanced autosomal DNA analysis that is being conducted by some of the members of our genetic genealogy community, which is why Ancestry have not provided the tools. Their research certainly confirms my own findings from talking to people in the UK who have taken autosomal DNA tests. I find that very few people are up to the challenges of using the advanced techniques, and many struggle with the basics such as trying to download their list of matches into Excel. Intriguingly, however, Mike did mention that Ancestry have some sort of triangulation tool in the pipeline. He said he'd seen the results for one of his US colleagues using this tool and they were very interesting. We shall have to wait and see what materialises.

Dinner at Ka Shing courtesy of Ancestry.com. 

I didn't get round to discussing the discontinuation of the AncestryDNA Y-DNA and mitochondrial DNA tests. AncestryDNA stopped selling these tests in June this year, and their Y-DNA and mtDNA database was scheduled to be destroyed in September much to the horror of the genetic genealogy community. I understand that John Halvey, who was sitting on the other table from me, was getting a hard time from my fellow ISOGG members about the potential destruction of this irretrievable asset. However, CeCe Moore, who was at the bloggers' summit, has since advised me they were informed that the "legacy" database has not been destroyed after all. She tells me  "It's fate remains up in the air for now, but fortunately all hope is not lost."

Competition is very healthy, and it will be interesting to see how the genetic genealogy market evolves in 2015.

This post was updated on 13 November to correct the information on the AncestryDNA Y-DNA and mtDNA databases following a comment received from CeCe Moore.

See also my blog post dated 8th January 2015 - The Ancestry Y-DNA and mtDNA samples have not been destroyed after all.

© Debbie Kennett 2015

Back To Our Past and Genetic Genealogy Ireland 2014

I've had a somewhat hectic schedule in the last month or so, and have not had much time for blogging but I hope to catch up in the next few months. I was in Canada in September where I was presenting a series of lectures at the BIFHSGO conference, and we stayed on in Canada to enjoy a wonderful holiday. I hope to write about my experiences in Canada shortly. Soon after getting back from Canada I travelled to Ireland to attend the Back To Our Past show at the Royal Dublin Society (RDS) where I was invited to give a presentation as part of the associated Genetic Genealogy Ireland conference. This is the second year that there has been a genetic genealogy component to Back To Our Past, and it now looks set to become a permanent fixture of the show. Genetic Genealogy Ireland was sponsored by Family Tree DNA and the lectures were organised by volunteers from ISOGG - the International Society of Genetic Genealogy.

The RDS in Dublin - the venue for Back To Our Past
and Genetic Genealogy Ireland 2014.

For much of the show I was helping out as a volunteer on the Family Tree DNA stand answering DNA-related questions and swabbing customers who wanted to be tested. FTDNA were doing brisk business each day and the stand only started to quieten down by about 5.00 pm. I don't yet know the final tally, but around 95 kits had already been sold by the end of the second day. Last year 99 kits were sold over the course of three days so the total is certainly going to be well up on last year. A number of ISOGG surname DNA project administrators were offering sponsored tests, and some lucky project admins were fortunate to have their offers accepted. I don't yet know the full list of names but free tests were done for the following surnames: CASSIDY, DALTON, FITZGERALD, GOUGH, KENNEDY, LLOYD, LYONS (2) and TAYLOR.  The offers for the free tests are collated on the free DNA tests page on the ISOGG Wiki. Most of these offers are still valid so do check out the list to see if your name is included.

A busy FTDNA stand.

Pretty in pink on the FTDNA stand.

One of the members of my own Cruwys/Cruse/Cruise DNA project called in to say hello to me, and he updated me on the progress of his genealogical research. I also had the pleasure of meeting for the first time a fellow Cruse researcher with whom I'd corresponded previously. She ordered a mitochondrial DNA test for herself and she took a kit away with her so that her dad could be tested. He is descended from a Cruse line that can be traced back to Sampford Arundel in Somerset, and I shall look forward to seeing his results in due course.

I managed to escape from the FTDNA stand every now and then to attend some of the lectures. Most of the talks have been recorded, and the recordings are gradually being uploaded to the Genetic Genealogy Ireland YouTube channel in the order in which they were presented. The lecture programme can be found online here, and the speakers' biographies are on the Genetic Genealogy Ireland website. I will leave you to enjoy the talks for yourselves, but I will just comment briefly on some of the highlights.

Cathy Swift, Director of Irish Studies at Mary Immaculate College, University of Limerick, gave an excellent talk on the subject of  "Emerging dynasties in a maritime world - hunting for Brian Boru’s genetic legacy". I was not able to attend this talk in person but caught up with the recording on YouTube. Cathy provided a very interesting insight into the evolution of surnames in Ireland. She acknowledged the "intellectual curiosity, involvement and enthusiasm" of all the citizen scientists who run surname and geographical projects. However, as the science is advancing so rapidly and so much of the work is taking place outside universities, it can be very hard to keep up to date with the latest advances and to form judgements about whose work can be relied upon. Cathy argued for increased collaboration between the "fusty dusty ivory tower people" and people like the volunteer project administrators who are working "at the coalface". Cathy is running a Y-chromosome research project which is using surnames and DNA to investigate the extent of Viking ancestry in Limerick. You can read more about the project and the surnames which have been selected for inclusion on the Mary Immaculate College website. I had a chance to chat to Cathy at dinner on Friday night and again during the conference. She has some very robust views on the interpretation of historical evidence in combination with DNA results, and she is very keen for historians to collaborate with genetic genealogists. I think we will all enjoy collaborating with her in the future for our mutual benefit.

Kirsten Bos from the University of Tübingen in Germany gave a fascinating talk on the subject of the "Plagues of our ancestors as revealed through ancient DNA". Her talk is not yet up on the YouTube channel but I highly recommend watching it when you have the chance.

Kirsten Bos on the plagues of our ancestors.

I was not able to attend Maurice Gleeson's talk on "Solving adoption mysteries in your family tree", which was the closing lecture on Saturday but I understand that the audience was moved to tears when Kirsten Bos's husband, who is himself an adoptee, gave a spontaneous and very personal account of his own DNA success story. There are apparently 50,000 adoptees in Ireland and as the autosomal databases continue to grow we can expect to hear of many more such success stories.

Maurice Gleeson on solving adoption mysteries in your family tree.

I've been following the progress of the People of the British Isles Project for some time so I made a particular point of attending the talk by Daniel Crouch from the University of Oxford. I've written previously about the project, and much of the material was already familiar to me. The good news is that the long-awaited POBI paper is going through the final stages of the peer review process and with any luck should be out in the next few months. This is the first study that has been able to identify distinct regional genetic clusters within a country. The maps are quite stunning and show, for example, that the people of both Devon and Cornwall can be broken down into different genetic groups. The dating of the clusters is, however, proving more controversial. The research has now moved into the next phase and Daniel is starting to explore the connections between genetics and our facial features.

Dan Crouch on the People of the British Isles Project.

For me one of the highlights of the conference was Rob Warthen's talk on Sunday afternoon. Rob founded the DNAadoption website and DNAGedcom, both of which he works on in his own free time on top of holding down a full-time job. These sites are an example of citizen science at its best. Genetic genealogy is an emerging and rapidly evolving discipline and it is often the users who step in and provide the tools that are missing from the commercial providers. DNAGedcom provides a range of tools for advanced autosomal DNA analysis, including the popular Autosomal DNA Segment Analyser, a program written by Don Worth which works in tandem with the tools that Rob provides. If you are familiar with the application of triangulation to autosomal DNA data then I highly recommend that you experiment with the ADSA tool as it takes all the hard work out of identifying the "in common with" shared segments and presents the results in a easy-to-understand visual format which conveniently avoids the need for creating complicated spreadsheets. Sue Griffith has provided an excellent introduction to using ADSA on her Genealogy Junkie website. Rob's websites were originally set up to help the adoption community in America. In many states in the US, adoptees are denied the basic human right of having access to their own birth records, and they are increasingly turning to DNA in an attempt to connect with their biological families. The methodology used by the DNA adoption community is equally applicable for all genetic genealogists who are interested in doing a more detailed analysis of their autosomal DNA matches. Rob's talk was entitled "Finding Sue - how one quest grew into the DNAGedcom and DNAadoption websites". The Sue who is the subject of the talk is Rob's wife who was herself adopted. Sue joined Rob for the first half of the presentation, and the two of them told her story together. They are an engaging couple and Sue spoke from the heart. I won't spoil the story for you and I urge you to watch the presentation for yourself but make sure you have your tissues handy, especially at the point where a surprise guest in the audience reveals the part that he played in the quest and how it affected him.

Rob and Sue Warthen on how a Genographic Project DNA test
given as a Christmas present started a journey of discovery.

I only managed to catch the tail end of Emily Aulicino's excellent presentation on autosomal DNA. The Family Finder test was the most popular test at last year's show and there is clearly a great thirst for knowledge on the subject as Emily was speaking to a packed audience. Emily was selling copies of her book Genetic Genealogy: The Basics and Beyond at the show and not surprisingly she sold every single copy.

Emily Aulicino explains how autosomal DNA testing
can be used to help to verify family relationships.

I understand that Michelle Leonard gave an excellent presentation on the Fromelles Project, and John Cleary's talk on "How to enhance your Y-DNA results through surname and haplogroup projects" was very well received so I'm particularly looking forward to watching these two presentations when they become available. I'm also looking forward to hearing Patrick Guinness's views on the prolific Y-DNA genetic signature in north-west Ireland that has been misleadingly associated with the semi-mythical figure of Niall of the Nine Hostages.

John Cleary speaking on how to enhance your Y-DNA results
through surname and haplogroup projects.

Brad Larkin gave two talks at Genetic Genealogy Ireland. I was busy answering questions on the FTDNA stand after my own talk when Brad was speaking on the future of genetic genealogy, but I'm interested to hear his views and will catch up with this talk later.

Brad Larkin on the future of genetic genealogy.

Spencer Wells was the keynote speaker for the conference, and gave a presentation on the Genographic Project.

Spencer Wells on the Genographic Project

On Saturday I attended the presentation by Mike Mulligan, the International Product Manager of AncestryDNA. This talk was part of the main BTOP programme and was therefore not recorded. I will write about AncestryDNA in a separate blog post.

My own presentation was on the subject of "DNA for Beginners". You can watch my talk by clicking on the image below.

A PDF file of my presentation can be downloaded here. I've included clickable links for all the websites that were mentioned. The handout for my presentation can be downloaded here.

One of the best parts of attending a conference is the opportunity to meet up with old friends, make new friends and to network with fellow genealogists and genetic genealogists. I called in at the Guild of One-Name Studies stand and had a chat with my fellow Guild members Fíona Tipple and Sean Colfer. They were kept busy dealing with enquiries from researchers with a range of experience from complete beginners to knowledgeable experts.

The Guild of One-Name Studies stand.

I was very pleased to have the opportunity to meet Claire Santry for the first time. Claire runs the Irish Genealogy Toolkit website, which is a first-stop resource for anyone researching their Irish ancestry. She also writes prolifically on her Irish Genealogy News blog and can always be guaranteed to be up to date on all the latest genealogical developments in Ireland. Claire has already written a comprehensive report from Back To Our Past which includes all the genealogical news from the event. As you will see, she mentions that I talked to her into taking a DNA test though I have to say she did not need much persuading! I wonder if Claire will be writing more about DNA testing on her blog once she gets her results!

I also had the pleasure of meeting Seán Quinn. We had a long chat and discovered that we have many interests in common. Seán has been researching his Irish ancestry for many years and has a particular interest in Irish surnames and his own surname Quinn. He has a website on Irish surnames where he has published the fruits of more than ten years' research. He's also the author of several books. Seán very kindly gave me copies of his books Surnames in Ireland and An Introduction to Irish Ancestry, and in return I gave him a copy of my book on DNA and Social Networking. (All my copies of The Surnames Handbook had already gone by this stage.)

On Saturday evening all the genetic genealogy speakers and ISOGG volunteers were invited to a very enjoyable wine reception in Bewley's Hotel. The reception was hosted by the APGI (Association of Professional Genealogists in Ireland),

On the Monday after the show ISOGG members were treated to a special Genetic Genealogy Ireland 2014 day out which had been carefully planned by Gerard Corcoran, the ISOGG regional representative for Ireland. Gerard put together a fabulous programme for us. We met in the morning at the National Library of Ireland where we had some free time to do some research. We then headed over to the Dáil (the Irish National Parliament) where we were introduced to Marcella Corcoran-Kennedy who is the TD (Teachta Dála - member of parliament) for the constituency of Laois-Offaly. We had our photographs taken on the steps outside parliament, and were then treated to a guided tour of the Dáil.

ISOGG members with Marcella Corcoran Kennedy outside parliament.

We headed off to Dún Laoghaire (pronounced Dun Leary) for lunch where he had the pleasure of meeting Kingsley Aikins, the CEO of Diaspora Matters. After lunch we met up with members of the Genealogical Society of Ireland and we were given a guided tour of the magnificent new DLR Lexicon - the official name of the new Dún Laoghaire-Rathdown Library - which is due to open some time in December. This was followed by a reception at Dún Laoghaire County Hall in the presence of Councillor Marie Baker, the Cathaoirleach (chairman) of the County Council, who also very kindly consented to provide a DNA sample to join the Family Tree DNA database! I had a chat with Seamus O'Riley who is the Genealogical Director of the Irish DNA Atlas Project. I also had the pleasure of meeting Michael Merrigan who is a fellow member of the Guild of One-Name Studies. Michael is the co-founder, director and general secretary of the Genealogical Society of Ireland and also serves as a county councillor. He is also a strong advocate for academic rigour in the interpretation of historical records and DNA evidence so we had much in common. In the evening we were treated to a meal at the Chinese restaurant Ka Sheng in Dublin city centre. Ancestry.com were our hosts for the night and we had the opportunity to quiz them about the launch of their autosomal DNA product in the UK and Ireland. I will write about this in a separate blog post. It was a very successful day and Gerard has already promised us that he will arrange another special ISOGG outing for us next year.

All in all Genetic Genealogy Ireland was a great success. There was a real buzz around the event and a sense of excitement that we were all at the start of something very special. There have been some vigorous debates in the Genetic Genealogy Ireland Facebook group, but the fact that we are having these discussions is testament to the energy and enthusiasm that has been generated. New friendships have been formed, new links have been forged between genetic genealogists and academics, and I am sure that next year's event will be bigger and better than ever.

Particular thanks are owed to Derrell Oakley Teat who was entrusted by Family Tree DNA with the task of organising the FTDNA stand. She worked tirelessly behind the scenes to make all the arrangements and also co-ordinated our week-long social programme. Maurice Gleeson did a magnificent job of organising the lectures and he chaired the sessions throughout the course of the three days with both charm and good humour. However, all the hardworking volunteers and speakers played their part, and especially those who flew over from America at their own expense to participate.

Maurice Gleeson with a captive audience discussing
 "Which DNA test is best for you?"

Disclosure
I travelled to Ireland at my own expense and paid for all my own accommodation. As compensation for presenting a lecture at Genetic Genealogy Ireland I received a free DNA test from Family Tree DNA. I have not yet claimed the test though I intend to use it to do a Family Finder test on a cousin.

Update
My report on AncestryDNA at Back To Our Past can be found here.