Genetic Genealogy Education

At the end of October this year I had the great pleasure of attending the Genetic Genealogy Ireland conference in Dublin. I am pleased to report that the recordings of all the DNA lectures are now available free of charge online on the Genetic Genealogy Ireland YouTube channel. There are just a couple of lectures which could not be recorded, generally because the speaker was presenting unpublished results. If you attended the conference and weren't able to attend all the lectures now is your chance to catch up. If you didn't attend you are in for a real treat. If you only have time to watch one presentation I highly recommend Diahan Southard's very moving presentation on The Marriage of Genetics and Genealogy. This was the story of her mother's search for her biological parents.

I gave a presentation on The Future of Autosomal DNA. I'd love to know what you think about my vision for the future. Do you think my predictions will come true?

The same weekend that Genetic Genealogy Ireland was on in Dublin there was also a big DNA event in America with the second Institute of Genetic Genealogy held in San Diego. The lectures from this conference are also available online. These talks were recorded professionally with both sound and video. They are available online for a small fee from the i4GG website. You can either pay for each individual lecture or purchase the whole set of 19 videos for just $99.

I've not yet had time to watch all the presentations and I shall look forward to catching up when I have a bit more time after Christmas. Of the lectures I've seen so far I particularly enjoyed Leah Larkin's talk When Your Tree Is a Banyan: Coping with Endogamy in Genetic Genealogy. She provided a fascinating insight into the problems of interpreting autosomal DNA results in a highly endogamous population. She has some ancestors from whom she has an astonishing 10 or 11 different lines of descent!

With so many talks available online there will be something to learn for everyone whether you are a beginner or an advanced genetic genealogist.

A review of the GPS Origins test: four ethnicities and four reports

I wrote about the GPS Origins test from DNA Diagnostics Center back in August this year when the test was first launched. There was recently a special offer via Geneabloggers to upload your raw data and receive an interpretation for $29, a big saving on the usual transfer price of $79. I thought I would it give it a try out of curiosity. As a comparison three other people with different ancestries have also shared their reports with me and given permission for me to use them on this blog.

First of all let's have a look at what the GPS Origins test claims to offer. Here are the descriptions from the how it works page:

The GPS Origins report is split into two parts. In the first section you are provided with your gene pool percentages. Here is the explanation of gene pools from the Understanding Your Results page:

The second part of the test provides two migration stories for each customer. Here is the explanation from the Understanding Your Results page:

There is further information about the test on the FAQs page:

The company makes the following claims with regards to the accuracy of the test:

Now let's move on to look at some actual results, starting with my own GPS Origins test.

Debbie Kennett's GPS Origins results
I've done a lot of research on my family tree over the last 15 years. All my known ancestors within the last 500 years are from Britain and Ireland. I have one great-great-great-grandmother who was born in Ireland and one great-great-great-grandfather who was born in Scotland. All my remaining ancestors were born in England and are predominantly from the south and west of the country. I've previously tested with AncestryDNA, 23andMe and Family Tree DNA. My admixture results from these three companies are fairly typical for someone with British ancestry. Each company uses different reference populations and therefore produces different results, but my ancestry comes out at between 41% and 58% British and Irish with the balance made up from a mixture of other European populations. You can see my full admixture results from all three companies here.

For the GPS Origins test I uploaded my raw data from AncestryDNA (v1). Here are my gene pool percentages:

# 1 Fennoscandia 19.8%
Origin: Peaks in the Iceland and Norway and declines in Finland, England, and France

# 2 Western Siberia 12.9%
Origin: Peaks in Krasnoyarsk Krai and declines towards east Russia

# 3 Sardinia 12.4%
Origin: Peaks in Sardinia and declines in weaker [sic] in Italy, Greece, Albania, and The Balkans

# 4 Orkney Islands 11.8%
Origin: Peaks in the Orkney islands and declines in England, France, Germany, Belarus, and Poland

# 5 Southern France 11.3%
Origin: Peaks in south France and declines in north France, England, Orkney islands, and Scandinavia

# 6 Basque Country 11.2%
Origin: Peaks in France and Spain Basque regions and declines in Spain, France, and Germany

# 7 Southeastern India 9.1%
Origin: Endemic to south eastern india with residues in Pakistan

# 8 Tuva 6%
Origin: Peaks in south Siberia (Russians: Tuvinian) and declines in North Mongolia

# 9 Northern India 4%
Origin: Peaks in North India (Dharkars, Kanjars) and declines in Pakistan

# 10 Western South America 1.1%
Origin: Peaks in Peru, Mexico, and North America and declines in Eastern Russia

# 11 Central America 0.2%
Origin: Peaks in Mexico and Central America with residues in Peru

# 12 Northwestern Africa 0.2%

Origin: Peaks in Algeria and declines in Morocco and Tunisia

In the second part of the test I am given a map showing my two migration routes with accompanying migration stories.

You can see an interactive version of my migration routes here. You can view a PDF file with my full GPS Origins report here.

For the blue migration route I am told that my ancestors came from around Croatia prior to 211 AD. They then moved to Ireland at some point before 211 AD and moved to England between 211 AD and 1950 AD. According to my red migration route my ancestors came from Russia prior to 659 AD and arrived in north-western Russia between 659 AD and 1366 AD.

Ann Turner's GPS Origins results
The next report has been shared with me by Ann Turner. Ann's known ancestry is 3/16 German and 1/16 Irish from the early 1800s. The remainder is colonial American, and presumably English. Ann has also tested at 23andMe (v2 and V4), AncestryDNA and Family Tree DNA. Here are her 23andMe results at the speculative setting:

At AncestryDNA Ann's results are: Europe 98% and West Asia 1%. Europe is broken down as follows: Scandinavia 50%, Europe West 15%, Iberian Peninsula 12%, Ireland 12%, Great Britain 6%, trace regions 3%.

With Family Tree DNA's Family Finder test Ann's MyOrigins results are: European 97%, Central South Asia 2%. Europe is broken down into: Western and Central Europe 44%, Scandinavia 35%, British Isles 16%, Southern Europe 1%.

Ann uploaded her AncestryDNA data (v1) to GPS Origins. Here are Ann's gene pools:

# 1 Fennoscandia 22%
Origin: Peaks in the Iceland and Norway and declines in Finland, England, and France

# 2 Southern France 15.5%
Origin: Peaks in south France and declines in north France, England, Orkney islands, and Scandinavia

# 3 Western Siberia 10.9%
Origin: Peaks in Krasnoyarsk Krai and declines towards east Russia

# 4 Southeastern India 10.7%
Origin: Endemic to south eastern india with residues in Pakistan

# 5 Orkney Islands 10.6%
Origin: Peaks in the Orkney islands and declines in England, France, Germany, Belarus, and Poland

# 6 Basque Country 10%
Origin: Peaks in France and Spain Basque regions and declines in Spain, France, and Germany

# 7 Sardinia 9.3%
Origin: Peaks in Sardinia and declines in weaker in Italy, Greece, Albania, and The Balkans

# 8 Tuva 7%
Origin: Peaks in south Siberia (Russians: Tuvinian) and declines in North Mongolia

# 9 Northern India 2.5%
Origin: Peaks in North India (Dharkars, Kanjars) and declines in Pakistan

# 10 The Southern Levant 1.4%
Origin: This gene pool is localized to Israel with residues in Syria

# 11 Western South America 0.2%
Origin: Peaks in Peru, Mexico, and North America and declines in Eastern Russia

Here are Ann's migration routes.



You can see an interactive version of Ann's migration routes here. The PDF File with Ann's full GPS Origins report can be seen here.

Ann's migration stories show that her ancestors came from Greece prior to 696 AD, and from Russia prior to 696 AD. Both of Ann's routes converge on the same location in Germany some time between 696 AD and 1935 AD. 

Piya Changmai's GPS Origins results

From the above two results it would appear that this test is not very helpful for people of Northern European ancestry. Let's now have a look at some results for someone with Asian ancestry. Piya Changmai has kindly shared his results with me. According to his family history Piya has 5/8 of his ancestry from Thailand and 3/8 from Southern China. He describes his ancestry as follows:

I have a Chinese paternal great-grandfather, so he contributed 1/8 of my ancestry. I have also a Chinese maternal grandmother, so her contribution is 2/8. Other ancestors are Thai and Laotian ethnics from Thailand. Thai and Laotian are closely related ethnics, like Czech and Slovak. In summary, I have Chinese ancestry 2/8+1/8 = 3/8 and Thailand (Thai and Laotian) ancestry 5/8. Both Chinese ancestors are from Southern part of China, also reflected by Y and mt haplogroups (O2a1a and F4b, respectively).

Piya has also tested at 23andMe. Here are his 23andMe results at the standard setting:

Here are Piya's 23andMe results at the speculative setting:

Piva uploaded his 23andMe (v4) data to GPS Origins. Here are Piya's gene pool results:

# 1 Austronesian Oceania 33.4%

Origin: Peaks in Korea, Chinese (Han), Mynamar, Japan, and Vietnam and declines towards West China and India

# 2 Austronesian Southeast Asia 27.1%

Origin: Peaks in Taiwan and Malay and declines in Thailand, Vietnam, Cambodia, and South China

# 3 Central America 6.4%

Origin: Peaks in Mexico and Central America with residues in Peru

# 4 Sino-Tibetan and Hmongic Southeast Asia 5.8%

Origin: Peaks in East Asia, Central-south China (Lahu, Naxi, Yi) and declines towards India

# 5 Tuva 4.2%

Origin: Peaks in south Siberia (Russians: Tuvinian) and declines in North Mongolia

# 6 Central Southern China: Yunnan and Guangxi 4%

Origin: Peaks in East Asia (East) and Chinese (She, Dai) with residues in Central south China (Han, Miao, Tujia)

# 7 Western Siberia 3.2%

Origin: Peaks in Krasnoyarsk Krai and declines towards east Russia

# 8 Pima County: The Sonora 3.1%

Origin: Peaks in Central-North America and declines towards Greenland and Eskimos

# 9 Southeastern India 2.9%

Origin: Endemic to south eastern india with residues in Pakistan

# 10 Papuan New Guinea 1.8%

Origin: Peaks in Papua New Guinea and declines in Australia

# 11 Bougainville 1.6%

Origin: Peaks in Bougainville and declines in Australia

# 12 Southern France 1.3%

Origin: Peaks in south France and declines in north France, England, Orkney islands, and Scandinavia

# 13 Southwestern India 1.3%

Origin: Endemic to Indian (Pulayar) with residues in India (Paniya, Savara, Bengali, Juang, Savara, Ho, Bonda)

# 14 Northern India 1.1%

Origin: Peaks in North India (Dharkars, Kanjars) and declines in Pakistan

# 15 Western South America 1%

Origin: Peaks in Peru, Mexico, and North America and declines in Eastern Russia

# 16 Northern Mongolia and Eastern Siberia 1%

Origin: Peaks in North Mongolia and declines in Siberia

# 17 Northwestern Africa 0.5%

Origin: Peaks in Algeria and declines in Morocco and Tunisia

# 18 The Southern Levant 0.3%

Origin: This gene pool is localized to Israel with residues in Syria

Here is Piya's migration map.

You can see an interactive version of Piya's migration map here. (His report is under the pseudonym Mee Panda.) A PDF file with Piya's full GPS Origins results is available here.

Both of Piya's migration routes start in the same place in Kyrgyzstan. Piya is told that his ancestors came from Kyrgyzstan prior to 1183 AD. His ancestors on the northern route arrived in northern China between 1183 AD and 1617 AD. Piya's southern migration route ends up in Singapore and arrived there some time between 1150 AD and 1751 AD. 

Ezgi Altinisik's GPS Origins results
The final set of results I'll be looking at are from Ezgi Altinisik. She is from Turkey. Her paternal grandfather was born in Bulgaria and her paternal grandmother was born in Romania but both were Turkish and moved back to Anatolia around 1930. Her maternal grandmother is from Siverek in Turkey. Her maternal grandfather is from Samsun on the north coast of Turkey. As far as she knows, all her maternal ancestors have resided in Turkey for a long time.

Ezgi has also tested at 23andMe. Here are her 23andMe results at the standard level:

Here are her 23andMe results at the speculative level.

Ezgi uploaded her 23andMe data (v4) to GPS Origins. Here are Ezgi's gene pool results:

# 1 Southern France 14.6%

Origin: Peaks in south France and declines in north France, England, Orkney islands, and Scandinavia

# 2 Fennoscandia 14.6%

Origin: Peaks in the Iceland and Norway and declines in Finland, England, and France

# 3 Southeastern India 12.8%

Origin: Endemic to south eastern india with residues in Pakistan

# 4 Western Siberia 10.9%

Origin: Peaks in Krasnoyarsk Krai and declines towards east Russia

# 5 Orkney Islands 9.7%

Origin: Peaks in the Orkney islands and declines in England, France, Germany, Belarus, and Poland

# 6 Tuva 7.9%

Origin: Peaks in south Siberia (Russians: Tuvinian) and declines in North Mongolia

# 7 Sardinia 7.8%

Origin: Peaks in Sardinia and declines in weaker in Italy, Greece, Albania, and The Balkans

# 8 Arabia 5.7%

Origin: Peaks in Saudi Arabia and Yemen and declines in Israel, Jordan, Iraq, and Egypt

# 9 The Southern Levant 5.5%

Origin: This gene pool is localized to Israel with residues in Syria

# 10 Basque Country 3.9%

Origin: Peaks in France and Spain Basque regions and declines in Spain, France, and Germany

# 11 Northern India 3.8%

Origin: Peaks in North India (Dharkars, Kanjars) and declines in Pakistan

# 12 Austronesian Southeast Asia 1.3%

Origin: Peaks in Taiwan and Malay and declines in Thailand, Vietnam, Cambodia, and South China

# 13 Central America 0.8%

Origin: Peaks in Mexico and Central America with residues in Peru

# 14 Western South America 0.8%

Origin: Peaks in Peru, Mexico, and North America and declines in Eastern Russia

Here is Ezgi's migration map.

Ezgi's interactive migration map can be seen here. A PDF file with Ezgi's full GPS Origins results is available here.

The blue migration route shows that Ezgi's ancestors came from Russia prior to 1244 AD. Her ancestors then passed through Turkey on their DNA journey and ended up in Crete some time between 1244 AD and 1557 AD. According to the red migration route Ezgi's ancestors came from Turkey prior to 1037 AD, and arrived in Armenia some time between 1037 AD and 1527 AD.

Discussion

This is only a very small sample of four test results, but if these results are representative it would appear that the GPS Origins test is not very helpful.

The gene pool results are very strange and correlate poorly with the results we might expect for the reported ethnicities. For instance, both North European persons (Ann and I) and the Turkish person (Ezgi) in this small sample have unexpectedly high and very similar percentages of ancestry components from Siberia (18% - 19%) and India (13 - 17%). The model seems to overestimate these components for all West Eurasians. The components from Orkney (9.7% - 11.8%) and Sardinia (7.8%  - 12.4%) are also similar in these three individuals.

The Thai person (Piya) has an unexpectedly high component of around 10% Native American, but only just over 5% from India. Both Ann and I, who have recent all-European ancestry, came out with more than double this Indian component. We would expect much more Indian ancestry in a Thai person as compared to a European person, based on the history of Thailand and recent genetic research (Mörseburg et al 2016).

The maps do not always correspond with the countries in the gene pools. Fennoscandia is supposed to encompass Norway, Sweden, Finland, Denmark and "a part of Russia known as the Kola Peninsula". However, on the map it covers Iceland, Norway, Finland, Britain and France but excludes Sweden and Denmark. The map for the Western Siberian gene pool covers the whole of Russia. The Austronesian Oceania gene pool seems to be misnamed given its geographical distribution and probably should be renamed as Northeast Asia. Only Korea, Japan, Vietnam and Myanmar (Burma) are highlighted on the map yet these countries are not in Oceania and the people do not speak any Austronesian languages. China is missing from the map, although the text states that the component peaks in Han Chinese, among other populations. Pavel Flegontov, a geneticist at the University of Ostrava in the Czech Republic, tells me that in all other ADMIXTURE analyses he's seen, this Northeast Asian component has a much wider distribution in Siberia and much lower percentages in Myanmar and Vietnam. He suggests that if the components really have the distributions shown on the maps, that clearly demonstrates that GPS Origins reports artefacts of an overly complex admixture model with 36 components.

According to the legend on the migration maps "Although the Migration Patterns represent your Maternal and Paternal DNA route, we cannot differentiate which route is specifically your parents’ individual route at this time." However, the GPS Origins test does not phase the genetic data (phasing is the process of sorting the alleles onto the maternal and paternal chromosomes) so it is not clear how the paternal and maternal routes are defined in the first place. If an individual has reported ancestry from predominantly one region then surely we would expect the migration routes to be broadly similar for both the maternal and paternal lines.

The co-ordinates are supposed to represent places where "significant genetic mixture took place at the gene pool level", but the proposed migration routes are at times bizarre and do not correspond with historical records. For example, there are no large-scale historical migrations from Croatia to Ireland, from Kyrgyzstan to Singapore, or from Russia to Crete. The precision of the geographical co-ordinates down to three decimal places gives a false sense of accuracy, but the methodology is opaque.

The concept of the dual migration pathways is difficult to understand. If we go back one thousand years, in theory we all have over 8,000 million genealogical ancestors. It is inconceivable that half of these ancestors would all go off on their travels in one direction and the other half would go in a different direction.

The algorithms for the GPS Origins test have been developed by scientists at the University of Sheffield led by Eran Elhaik. However, as mentioned in a previous blog post, the underlying research by Elhaik et al (Nature Communications, 2014) on which this test is based has proved to be controversial. The results have been called into question by Flegontov et al (2016) who conclude that GPS is a "genetic provenancing approach" which is "at best only suited to inferring the most likely geographic location of modern and relatively unadmixed genomes, and tells nothing of population history and origin".

Since then a further analysis has been published by Andrew Millard, an archaeological scientist at the University of Durham. He was unable to reproduce the mathematical calculations and concluded:

...the mathematical methods described are incoherent, the supplementary data is not that used to create the figures or equations in the paper, and the supplementary code does not implement the methods described. The paper is methodologically unsound and not reproducible.

There have also been additional concerns about an undeclared conflict of interest on the part of Eran Elhaik and Tatiana Tatarinova, the lead authors of the GPS paper in Nature Communications. This omission has now been partially rectified, somewhat belatedly, with the publication on 31 October 2016 of a corrigendum. However, the new conflict of interest statement does not mention the relationship that the two authors already appear to have had in place with Prosapia Genetics prior to publication. The Prosapia Genetics domain name was originally registered to Tatarinova. On the very day that the paper was released Prosapia started selling a commercial GPS test. In a video published to accompany the press release issued by the University of Sheffield Eran Elhaik suggested that people should upload their genotype data to "our website" to find out their geographical homeland. The Prosapia URL (www.prosapiagenetics.com) was included at the end of this video. The video has since been edited to remove the URL but the original unedited video can be viewed on the Daily Mail website. The original Prosapia GPS test no longer seems to be available and the website now returns a warning message. An early version of the website dating from 3 May 2014, a few days after the publication of the paper, can be found in the Internet Archive.

Conclusion
The GPS Origins test does not provide meaningful results and has no practical application for the genetic genealogist. If you wish to use your raw autosomal DNA data from one of the commercial testing companies to get an alternative admixture analysis I recommend using one of the free services such as DNA.Land or GedMatch instead.

Update 1st December 2016
Eran Elhaik has published a response to this article GPS Origins results for four participants on his Khazar DNA Project blog.

Update 8th December 2017
The GPS Origins test is now marketed by a company known as Home DNA. See the article Genome culture: a holiday gift-giving guide by genetics counsellor Laura Hercher one the deficiencies of the Home DNA privacy policy and the limitations of their tests.

Acknowledgements

Thanks to Ann Turner, Piya Changmai and Ezgi Altinisik for sharing their results. Thanks to Pavel Flegontov and Ann Turner for helpful comments on early drafts of this blog post.

Related blog posts

• The GPS Origins test - the DREAM chip compared with AncestryDNA and 23andMe transfers
• The new GPS Origins test from DNA Diagnostics Center - caveat emptor

 © 2016 Debbie Kennett

Exome testing combined with a Geno 2.0 Next Generation test from Helix

Helix, a new genetics start up company in the US, has just announced the launch of the first product on its new pay-as-you-go sequencing platform –  a National Geographic Geno 2.0 Next Generation test. When you order the test the company will sequence your exome. That's the part of your genome which includes all the genes. Your DNA is then stored by the company and you can order additional DNA products as and when they become available. These will include reports on nutrition, health and fitness produced by other partner companies. Presumably Helix hopes that customers will be encouraged to pay for enough add-on products to recoup the costs of the exome sequencing. At present the Helix test is only available to US residents.

Helix is using a technology called Exome+ which they describe as follows:

The “exome” is comprised of all the DNA that encodes for protein—and because proteins are the machinery of your cells, the exome represents some of the most important and well-studied pieces of your DNA. But the exome is only part of your DNA story. The genetic experts at Helix have identified other important information-rich areas to sequence (hence, Exome+).

However, rather than using all the data from the exome, the Helix Geno Next Generation test is done using just a subset of these SNPs. Helix explain that they "provide National Geographic with more than 200,000 markers from your autosomal chromosomes, the Y-chromosome, and mitochondrial DNA". The breakdown of the markers tested is provided on the product page:

• Maternal line: over 3,000 markers on mitochondrial DNA
• Paternal line (for males): over 10,000 markers on the Y chromosome
• Hominin and regional: over 200,000 markers across the entire genome

It is not clear how many of the SNPs used by Helix overlap with the SNPs used on the current Geno 2.0 NextGen test from the Genographic Project. The chip used for the standard Geno 2.0 NextGen test has around 700,000 autosomal SNPs, 20,000 Y-SNPs and 4000 mtDNA SNPs. The new Helix test therefore provides less coverage than the existing test. This is presumably because there are fewer ancestry informative markers in the exome.

Customers in the US who wish to order a Genographic test now have no other option but to buy the Geno Next Generation Helix Kit. The higher-resolution Geno 2.0 Next Gen test is still available for customers outside the US. Presumably the company will wait and see how the test fares in the US before deciding whether or not to roll it out to the rest of the world.

Unfortunately because the new Helix test covers so few markers it will no longer be possible for US customers to transfer their results to the Family Tree DNA Family Finder database to search for genealogical matches. They will also not be able to upload their results to the free third-party websites such as GedMatch and DNA.Land.

At the moment Helix customers cannot access their raw data. The website says that they are actively working on a feature to allow customers to "purchase access to the raw data set containing your complete DNA sequence data in 2017". It remains to be seen how much this will cost, but if someone is interested in having their exome sequenced then the Helix test might turn out to be a cost-effective way of doing so.

The concept of pay as you go sequencing is interesting but I would have thought it would make sense to wait until the full information is available from whole genome sequencing rather than ordering an exome sequencing test. In the current Full Genomes Corporation sale it is already possible to buy 30x whole genome sequencing for $1250, and 15x whole genome sequencing for $795. The Full Genomes test includes a full interpretation of the Y-chromosome data. The raw autosomal data can be uploaded to Promethease for a small fee of $5 for health reports. Veritas Genetics offers a 30x whole genome sequencing test for $999 which includes health and trait reports. No Y-chromosome interpretation is provided though this can be purchased though YFull for $49.  However, the Veritas test needs to be authorised by a doctor. No doubt the cost of whole genome sequencing will come down in price in the next few years to a more affordable level.

Update 1st February 2017
Further information about the new Helix test is provided in an article on GenomeWeb Helix readying for summer launch of genomics apps addressing broad consumer interests (31 January 2017). Here are two relevant quotes from the article:

"In November Helix began offering National Geographics' ancestry product Geno 2.0. Customers can order the spit kit through Helix and view their results online, although not yet through Helix's platform. This is allowing Helix to test out its ability to handle a large product launch, so by summer it can smoothly introduce multiple apps across all six categories."

"The company [Helix] has projected that the initial sequencing and app-based interpretation will cost around $200, a price point that Helix believes more healthy people — those who otherwise don't have a medical reason to seek more expensive testing — will choose to pay out of pocket. Helix is also betting that its app-based model will uncover novel uses for genomic data and enable a responsible path to delivering this information to consumers, by placing them in charge of what they want to learn: something "fun" (and some might argue light on scientific validity), like their wine tasting profile, or something that can impact their future wellbeing and that of their families, such as their hereditary risk for breast cancer."

Update 2nd December 2017
For further details about the Helix platform see the Helix Personal Genomics Platform White Paper.

According to this blog post from Razib Khan it is expected that the raw data download will be available early in 2018 and will cost in the region of $600.

A further update from Razib Khan explains that the test will sequence around 30,000,000 markers.

Further reading

• Genetics start up Helix wants to create a world of personalized products from your DNA by Christina Farr. Fast Company, 21 November 2016.
• Helix forges partnerships with Mt. Sinai, National Geographic, ExploraGen; secures new investment. GenomeWeb, 26 October 2016.
• Helix, the closely watched DNA startup, makes uncertain debut by Stephanie M Lee. Buzzfeed, 26 October 2016.
• Inside Illumina’s plans to lure consumers with an app store for genomes by Antonio Regalado. MIT Technology Review, 19 August 2015.

With thanks to Gerard Corcoran, James Kane, David Mittelman and Ann Turner. 

The Oxford Dictionary of Family Names in Britain and Ireland

Update 20 November 2016. The publishers are providing free access to the dictionary until the end of November. To get the log in details see the press release from the UWE (you'll need to scroll right down to the bottom of the page).


The long-awaited Oxford Dictionary of Family Names in Britain and Ireland has finally been published. This dictionary is the fruit of six years' research by a team of academics at the University of the West of England, and is part of a project originally known as Family Names in the UK (FaNUK). It will be a valuable resource for information on the origins, history and geographical distribution of surnames in Britain and Ireland. Over 50,000 surnames are included in the database. The dictionary provides information on the current distribution of a surname in Britain and Ireland, the main location of the surname in Great Britain in 1881 and the main Irish location between 1847 and 1864. In the online version of the dictionary a map generated from Steve Archer's Surname Atlas CD showing the distribution of the surname in 1881 is also provided. Variant spellings are provided, and early bearers of the surname are listed.

The dictionary is available in print for the princely sum of £400. At that price it is going to be beyond the reach of the average family historian but it should be possible to find printed copies in your nearest reference library. The dictionary is also available as an online database via Oxford Reference. This database is accessible with some library tickets and via institutional access. If your library does not subscribe then I would encourage you to write to them and ask if they can take out a subscription. I can't currently access the database with any of my library cards or via my UCL account, but UCL have already told me that they are investigating access so I hope to be able to log in soon.

The FaNUK team invited members of the Guild of One-Name Studies to complete a questionnaire providing information about their registered surnames. I contributed information on the surnames Cruse, Cruwys and variants. I  was sent a draft of the entry for my surnames back in 2014 and provided further input on the draft, but I haven't yet seen the final entry so I shall look forward to seeing how it has turned out. I was very pleased that the dictionary cited my profile page on the Guild of One-Name Studies website as one of the references they'd used.

There were originally plans to incorporate DNA evidence into the surname entries as I reported back in 2011, but that proposal did not come to anything.

You can learn more about the dictionary in these interviews with Professor Patrick Hanks and Dr Harry Parkin on YouTube as well as catching a few tantalising glimpses of some pages from the dictionary.

Further reading 

• The Family Names in the UK website
• The official press release from the UWE
• Dictionary of 50,000 surnames and their origins published - article by Steven Morris in The Guardian, 17 November 2016.
• Most common surnames in Britain and Ireland revealed - article on the BBC website, 17 November 2016.
• Four-volume dictionary of surnames published - a review by Clare Santry on the Irish Genealogy News blog, 18 November 2016

News from the FTDNA conference and the start of the FTDNA sale

The annual Family Tree DNA International Conference on Genetic Genealogy took place over the weekend in Houston, Texas. Jennifer Zinck has provided two very detailed write-ups from the conference which are well worth reading in their entirety and will give an idea of what we might expect from FTDNA in the coming months:

• 12th International Conference on Genetic Genealogy – Saturday
• 12th International Conference on Genetic Genealogy – Sunday

You can see some pictures and tweets from the conference by searching on Twitter using the hashtags #FTDNA2016 and #FTDNAconf2016.

If there are further reports from the conference I will post the links here.

Ancient Origins report
A new Ancient Origins report was announced at the conference and this feature is now live. Log into your Family Finder account to get your results. Here is my report.

There is currently little information provided about the populations used to inform these reports but there is a brief FAQ section in the FTDNA Learning Center. This is probably not a report to be taken too seriously but is a little bit of fun.

FTDNA sale
At the end of the conference FTDNA announced the start of their sale. The Family Finder test is on offer for just $59 (£47), its lowest ever price. There are reductions on all the other tests as well as on some upgrades. Click here to see a full list of all the tests available and all the other sale prices.

The BigY test is included in the sale and is on offer for $525 but is only available to existing customers who have already ordered a Y-STR test.

There are also lots of coupons being offered to existing customers which can provide additional reductions on top of the sale prices. The deals include offers for up to $100 off the Big Y test, $60 off the 111-marker Y-DNA test, $40 off the 67-marker Y-DNA test, $40 off the full mitochondrial sequence test, as well as smaller reductions on other tests and upgrades.

If you're looking for an extra discount look out for offers in the various genetic genealogy mailing lists and Facebook groups. Many groups, including some of the haplogroup projects, are maintaining spreadsheets to collate all the spare coupons so if you want to order a test check first to see what is available. The coupons will be issued every week on a Monday until the end of the year.

MyHeritage launches a DNA testing service

My Heritage have announced the launch of MyHeritage DNA, which they describe as their "new global integrated genetic testing service".

The test will provide admixture reports and a DNA matching service for finding relatives. Additional features are planned for the future.

The test is a simple cheek swab which is mailed back to the MyHeritage DNA lab. I haven't yet been able to find any technical details of the chip used or which lab MyHeritage are using. Family Tree DNA kits are no longer being offered for sale on the MyHeritage website so this appears to be a brand new test. I've written to the company and will provide further information if it becomes available.

Update 9th November: MyHeritage have written a blog post which answers many of the questions we have had about the new test: MyHeritage DNA Your Questions Answered. It has been confirmed that they are using the Gene by Gene lab in Houston, Texas (Gene by Gene are the parent company of Family Tree DNA). There is a video on this blog post showing how the kits are processed.

The company have kindly provided me with the following photo of the MyHeritage kit.

The MyHeritage DNA test appears to be available in most countries of the world though according to the Terms and Conditions "The DNA services are currently not available to residents of the following locations: Israel, France, Poland and the State of Alaska".

The following information has been provided by Dan Horowitz, MyHeritage's genealogy expert:

"The initial reports currently include 25 ethnicities, but this will improve dramatically thanks to MyHeritage’s unique Founder Population project unveiled today — the largest of its kind ever conducted. More than 5000 participants have been handpicked for this project by MyHeritage from its 85 million members, by virtue of their family trees exemplifying consistent ancestry from the same region or ethnicity for many generations. In the next few months, the project will be completed, resulting in a rich DNA data set of more than 100 ethnicities that will enable MyHeritage to show users their ancestral roots with far greater resolution than other services. To this end, the company has been sending its DNA kits to project participants far and wide, from Uzbekistan to Fiji, from Greenland to South Africa, and every corner of the globe. Standard ethnicity reports are currently available, with the expert reports to be released at no additional cost to users following the completion of the Founder Population project. 

MyHeritage DNA is seamlessly integrated with the other services provided by MyHeritage on all web and mobile platforms, as well as offered on a dedicated standalone mobile app released today named MyHeritage DNA.

MyHeritage DNA kits are available at the affordable introductory price of $79 + shipping (prices vary by location). MyHeritage has already amassed a significant number of DNA kits uploaded by its users from other DNA services, providing valuable matches on MyHeritage from day one. Users who have already tested their DNA on other services are welcome for a limited time to upload their DNA data to MyHeritage at no cost to benefit from free DNA Matches."

On checking the new website at https://www.myheritagedna.com I'm directed to a UK page which shows that the introductory UK price is £79 (reduced from £99). There is an additional charge of £10 for postage. There are prices also shown in Euros. The European price is €79 (reduced from €99) with an additional charge of  €10 for postage. The prices are therefore the same in sterling and Euros as the prices in US dollars despite the fact that the dollar is not at parity with the pound or with the Euro. The website indicates that they will begin shipping kits in mid-November.

Here is a sample admixture report provided by the company.

Here are some sample screenshots showing the matching service which again have been provided the company.

I have already taken advantage of the free transfer to upload my raw data from Family Tree DNA to MyHeritage. At the moment I have just six matches, all of which are in the USA. I hope that the availability of the new MyHeritage DNA test will bring in many new testers, and I look forward to receiving new matches in the future.

Judy Russell has written some useful articles on the Legal Genealogist blog about the terms and conditions of the MyHeritage DNA service and their relationship with Geni.com. I recommend reading all these articles:

• MyHeritage DNA matching and terms of use, 22 May 2016
• MyHeritage DNA terms changed, 27 May 2016
• My Heritage and Geni Part I  5 July 2016
• My Heritage and Geni Part II  6 July 2016

There are further details about the test on the MyHeritage blog including a link to a video showing a picture of the MyHeritage DNA lab though I can't currently get the video to play.

CeCe Moore reports that 'a chromosome browser will be coming in future updates and that the testing chip is "industry standard"'.

Update 9th November
I originally posted that I was unable to contact any of my matches without having a MyHeritage subscription. I was contacted by the CEO of MyHeritage who advised me that there was a bug affecting users who uploaded DNA data on the day on which I uploaded my data in October. This bug has now been fixed and I am able to contact matches so I have removed this section of my post.

Here is the official press release received from MyHeritage.

MyHeritage Launches Global DNA Testing Service for Uncovering Ethnic Origins and Making New Family Connections 

Unique Founder Population project conducted by the company expected to empower the highest resolution ethnicity analysis available on the market

TEL AVIV, Israel & LEHI, Utah, November 7, 2016 — MyHeritage, the leading international destination for discovering, preserving and sharing family history, announced today the launch of MyHeritage DNA, its global integrated genetic testing service. The move represents a major turning point for the DNA industry, as MyHeritage DNA debuts an international mass-market home-testing kit that is simple, affordable and will offer some of the best ethnicity reports in the world.

With 85 million users worldwide, 2.1 billion family tree profiles, 7 billion historical records and availability in 42 languages, MyHeritage’s new DNA service further strengthens its position as a global leader in family history.

DNA is the hereditary material in the cells of the human body and it carries within it a unique genetic record. The MyHeritage DNA kit enables users to test their DNA to reveal valuable information about their family history and ethnic origins. The kit consists of a simple cheek swab and takes only a minute to complete, with no need for blood or saliva. The sample is then mailed to MyHeritage DNA’s lab for analysis and the user is invited to view the results on the MyHeritage website. In its initial version, MyHeritage DNA provides two main features: detailed ethnicity reports that map the user’s ethnic and geographic origins, and DNA Matches for finding relatives. Additional features and capabilities are planned for the future. 

MyHeritage DNA results include fascinating ethnicity reports, showing the percentage of the user's DNA that come from different populations around the world. The initial reports currently include 25 ethnicities, but this will improve dramatically thanks to MyHeritage’s unique Founder Population project unveiled today — the largest of its kind ever conducted. More than 5000 participants have been handpicked for this project by MyHeritage from its 85 million members, by virtue of their family trees exemplifying consistent ancestry from the same region or ethnicity for many generations. In the next few months, the project will be completed, resulting in a rich DNA data set of more than 100 ethnicities that will enable MyHeritage to show users their ancestral roots with far greater resolution than other services. To this end, the company has been sending its DNA kits to project participants far and wide, from Uzbekistan to Fiji, from Greenland to South Africa, and every corner of the globe. Standard ethnicity reports are currently available, with the expert reports to be released at no additional cost to users following the completion of the Founder Population project.

DNA test results complement MyHeritage’s core offerings, including family trees and historical records — the tools traditionally used by family history enthusiasts. DNA can be used to prove or disprove a documented family tree connection, or answer the question of whether two people sharing the same rare surname are actually related. DNA is also indispensable for overcoming seemingly insurmountable obstacles in traditional research, as in the case of adoptees searching for their biological family without access to their adoption records. On the other hand, when DNA locates a match between two people who have the same ancestor or ancestors, family trees and historical records are often essential for piecing together the exact relationship path between them.
Thanks to its expertise in family trees and its vibrant community, MyHeritage provides its DNA customers with features not offered by most competing services including 23andMe, such as viewing family trees of the majority of their DNA Matches to pinpoint the connection path, and automatically identifying which surnames and geographical locations they have in common. DNA can be a fascinating introduction to the world of family history, and customers who embark on this journey by taking a DNA test can easily use MyHeritage's tools to further explore what made them what they are. 

“DNA testing is the future of family history,” said MyHeritage Founder and CEO Gilad Japhet. “We see DNA as a natural evolution of our business and look forward to harnessing it to reunite families, engage in new pro bono projects, and enrich the lives of millions of users.” 

MyHeritage DNA kits are available at the affordable introductory price of $79 + shipping (prices vary by location). To order, visit the MyHeritage DNA website. MyHeritage has already amassed a significant number of DNA kits uploaded by its users from other DNA services, providing valuable matches on MyHeritage from day one. With the launch of MyHeritage DNA, the company will cease to offer DNA kits of other vendors. Users who have already tested their DNA on other services are welcome for a limited time to upload their DNA data to MyHeritage at no cost to benefit from free DNA Matches.

About MyHeritage
MyHeritage is the leading global destination for discovering, preserving and sharing family history. As technology thought leaders, MyHeritage is transforming family history into an activity that’s accessible and instantly rewarding. Its global user community enjoys access to a massive library of historical records, the most internationally diverse collection of family trees and ground­breaking search and matching technologies. An extension of the core MyHeritage brand, MyHeritage DNA offers technologically-advanced, affordable DNA tests that reveal users’ ethnic origins and previously unknown relatives. Trusted by millions of families, MyHeritage provides an easy way to share family stories, past and present, and treasure them for generations to come. MyHeritage and MyHeritage DNA are available in 42 languages. www.myheritage.com

A review of the birth registration process in England and Wales

The Law Commission, the organisation which advises the government on legal reform in England and Wales, is considering reviewing the law on birth certificates in its next round of proposed changes. Birth certificates are an important source for the family historian and if this consultation goes ahead I hope that family historians will have the chance to be involved in the process.

With advances in assisted reproductive technology there are now many complicated scenarios such as egg and donor conception and mitochondrial DNA donation which were not even dreamed about when civil registration began in 1837. The information recorded on birth certificates has changed little since that time so a review of the system is most welcome.

A reform of the birth registration process is particularly important for donor-conceived individuals. The law was changed in 2005 so that donor-conceived children have the right to access the information about their biological parents once they reach the age of 18. This information can be obtained from the Human Fertilisation and Embryology Authority. However, there is no requirement for the parents to disclose so an individual might never know the circumstances of their birth. There are also some parents who do not use official channels to find a donor, and for these children the details of the biological parents might never be recorded. As I argued in a recent paper, the advent of relative-matching DNA tests and the rapid growth of the genetic genealogy databases now mean that donor anonymity can no longer be guaranteed. It would, therefore, make more sense if there was a legal requirement to record the full information about an individual's biological and social parents at the time of conception for those who are using assisted reproductive technologies.

The proposed review is going to look at wider issues about the the role of birth registration in contemporary society. What is the purpose of a birth certificate? Why do we have birth certificates and for whose benefit are they kept? What do you think?

Further reading

• Should the Law Commission take a look at the birth registration system?  by Julie McCandless, BioNews, 17 October 2016
• Birth Certificates and Assisted Reproduction: Setting the Record Straight? by Daniel Malynn, BioNews, 24 October 2016
• The politics of birth certificates by Rebecca Steinfeld, 18 October, 2016
• What are birth certificates for? by Olivia Montuschi, Olivia's View blog, 19 October 2016.
• The end of donor anonymity by Joyce Harper, Debbie Kennett and Dan Reisel, Human Reproduction, 2016 31(6): 1135-1140.
• My nieces don't know they were conceived by donor sperm. Dear Mariella column by Mariella Frostrup, The Guardian, 23 October 2016.

Genetic Genealogy Ireland 2016

I returned home on Tuesday after an enjoyable few days in Ireland attending the Back To Our Past Show. This event is held at the RDS in Dublin, and is the highlight of the genealogical year in Ireland. An over fifties show takes place at the same time, and this year there was also a coin collectors fair being held at the RDS. Around 20,000 people visit the RDS over the course of the three days to attend these shows, and visitors can move freely between the three different events. This year the halls seemed to be busier than ever and I imagine that attendance will be up on previous years.

Genetic Genealogy Ireland, sponsored by Family Tree DNA, is now in its fourth year and has become an integral part of Back To Our Past. My friend and fellow ISOGG member Maurice Gleeson is the inspiration behind Genetic Genealogy Ireland. He not only arranges the lecture schedule but also chairs all the sessions with boundless energy and good humour. Once again Maurice provided a fabulous programme for us with a good mix of speakers from both academia and the world of genetic genealogy. I was invited to do a talk on the future of autosomal DNA testing which was great fun to put together. Most of the talks will eventually be made available on the Genetic Genealogy Ireland YouTube channel, but I will just mention briefly some of my personal highlights. I will update this blog post with links to the recordings as and when they become available.

René Gapert and Jim Barry gave a fascinating presentation about the pioneering Earls of Barrymore DNA Project. This is the first privately sponsored project to extract ancient DNA from ancestral remains. Jim Barry, who runs the Barry DNA Project at Family Tree DNA, is the driving force behind this project and he joined us by Skype from his home in Reston, Virginia, to give his part of the presentation. There are currently no protocols for digging up ancestors and testing their remains so this project is exploring uncharted territory. Genealogical research is not of interest to population geneticists, and academics will only get involved in such projects if there is a historical incentive or if the research will demonstrate a new methodology. Jim was unable to get any of the commercial and academic labs (eg University College Dublin) to collaborate, and he had great difficulty in finding a lab that would do the testing. The testing was eventually done at Family Tree DNA but this was only possible because Fiona Monosmith, a technician at FTDNA, took a particular interest in the case. She has since left the company.

René Gapert is a forensic anthropologist. He explained how it was necessary to get the relevant licences from the appropriate authorities to go ahead with the work. In Ireland the coroner determines whether remains are forensic or historical. Coroners are not interested in historical remains. Ancient remains have to be reported to the National Museum in Ireland. There has to be a good reason for testing human remains. Genealogical curiosity is not a good enough reason for testing. The Barrymore case was judged to be of historical significance because of the importance of the Anglo-Irish Barry family in Irish history. It also helped that there was a well established Y-DNA project with many samples available for comparison purposes.

A limited number of Y-STRs were obtained from the samples but the results were somewhat inconclusive. DNA samples were taken from the thigh bones, but ancient DNA has advanced since the testing was done and it is has now been established that the petrous bone – the bones in the skull which protect the inner ear – are the best source of endogenous DNA. It's likely that further DNA testing will be done in the future, and it is also hoped to get a facial reconstruction done by researchers at Dundee University, who specialise in these techniques. The eventual aim is to publish the results in a good-quality peer-reviewed journal.

PDFs of René Gapert's slides are available on Research Gate and Academia.

Forensic anthropologist René Gapert discusses the background to the Barrymore Project

The Barrymore Project sparked some interesting discussions over the course of the weekend, particularly with regard to the methodology used. Two other speakers, Dan Bradley and Jens Carlsson, explained how DNA is degraded over time and is often reduced to short fragments of around 50 base pairs in length. STRs are repeating motifs of DNA letters and they often cover 150 or more base pairs. This raises questions about the validity of the STR results obtained. Testing on ancient remains is usually done in a specialist ancient DNA lab to avoid problems of contamination with modern DNA, so there are also questions as to whether or not Family Tree DNA were best equipped to do this type of testing. Ancient DNA testing is normally done these days by using next generation sequencing. The old PCR methods have a tendency to amplify contaminating modern DNA. Regardless of the limitations of the methodology used, Jim Barry is to be congratulated for attempting such a pioneering project, and there is much to be learnt from the process which will pave the way for similar projects in the future. A small group of genetic genealogists are hoping to collaborate to try and come up with some best practice guidelines for testing ancestral remains. We hope to seek input from people working in the ancient DNA field. If you think you can help do get in touch.

The Barrymore presentation is now available on the Genetic Genealogy Ireland YouTube channel and you can watch it by clicking on the image below.

Professor Dan Bradley from Trinity College Dublin spoke about “Recent findings in ancient Irish DNA”. This talk summarised some of the recently published ancient DNA research from Ireland, much of which has come from Dan Bradley's own lab, including the landmark paper on Neolithic and Bronze Age migration to Ireland which presented the first ancient genomes from Ireland. We now know that farming comes with people, and it seems that the farmers displaced much of the Neolithic population. Bradley suggested that this might be because they brought diseases with them such as the plague which knocked out the settled populations. Bradley's lab is working on an ancient genome survey of Ireland and this project is well under way. They are sequencing “tens of genomes” but he has no idea at the moment when the results will be published.

Dan Bradley discusses recent findings in Irish ancient DNA

Peter Sjölund, one of the administrators of the Sweden DNA Project at Family Tree DNA and one of the founders of the Swedish Society for Genetic Genealogy, gave an entertaining presentation on “Viking DNA in Ireland” with some wonderful graphics. Around 20,000 people have tested in Sweden, but the focus is mostly on Y-DNA and mtDNA. Sweden is a "paradise for genetic genealogy". Genealogical records are intact for the whole country dating back to the 1680s and there are court records going back to 1535. However, hereditary surnames have only been used in the last 150 years which is why mtDNA is just as important as Y-DNA in Sweden. Peter presented a case study where he had been able to triangulate two matrilines back for 11 generations to the 1650s, and the genealogical research was confirmed with mtDNA testing. Eighty per cent of Swedish men are R1a, I1 and R1b. Swedish R1b men get very few matches. The admins of the Sweden DNA Project collaborate very closely with their fellow project admins in Norway, Finland and Russia. Peter estimates that around 8000 people have tested in Norway, around 9000 people in Finland but just a few hundred in Denmark for reasons which are unknown. A member of the audience joked that a lot of sperm donors come from Denmark!

Peter Sjölund discusses Viking DNA in Ireland

On Saturday morning I attended the first talk in the main genealogy programme which was presented by Mike Mulligan from AncestryDNA and Sheila O’Donnell, who is one of the Ancestry Progenealogists. Sheila gave a very useful overview of the key record sets for Irish research with particular reference to those that are available from Ancestry. In addition to the records on Ancestry many Irish records are freely available online such as the Irish censuses for 1901 and 1911, and the historic birth, marriage and death records on www.irishgenealogy.ie. The Irish Catholic Parish Records are an important source for Irish research. In the 1861 census 78% of the population were Catholic, and this figure had increased to 89% in 1891. The Catholic records are available on both Ancestry and Findmypast. I learned a few interesting facts. There were 67,000 Irish people living in in England in the 1901 census. In the 1855 census of New York one quarter of the people living in Manhattan were born in Ireland.

There was not much time for Mike Mulligan to talk about AncestryDNA, but I picked up a few interesting nuggets. Apparently people from the west of Ireland and those living in rural areas get more matches than those living elsewhere in Ireland, probably because there was lots of emigration to America from the west coast, and Americans are the dominant population in the databases. People from the west coast have an average of 130 fourth cousin matches but people on the east coast have about 70 or so matches. This compares with people from England who have between about 20 and 30 fourth cousin matches. This tallies with my own experience at AncestryDNA, as I currently have 29 fourth cousin matches. (In reality fourth cousin matches can be anywhere between a fourth and a sixth cousin.)

Robert Casey gave an interesting presentation on “Y-SNPs: key to the future”, which will appeal to advanced genetic genealogists. He discussed the problem of convergence whereby two haplotypes change over time and drift close together creating coincidental matches. Robert then went on to discuss a methodology for clustering matches into sub-groups based on SNPs, STRs and surnames. He is currently working with a computer programmer and is hoping to come up with a tool to produce automated charts.

In the discussion afterwards we talked about identifying modal haplotypes for specific subclades. It's particularly helpful for surname project administrators to know the modal haplotype so that they can identify off modal markers that are likely to be informative for their surname clusters. Diana Gale Matthiesen compiled a list of modal haplotypes for various haplogroups but her list has not been updated for some time, though it is still a potentially useful source. It would be good if we could have an updated list of modal haplotypes for all the different haplogroups in the ISOGG Wiki. If anyone is up to the challenge do get in touch.

Robert Casey discusses advances in Y-SNP testing and analysis

Jens Carlsson from University College Dublin gave a fascinating presentation about the “Genetic identification of the 1916 Cork Rebel Thomas Kent”. Thomas Kent was one of the 16 men executed by British forces in the aftermath of the Easter Rising. He was buried in the grounds of what is now Cork Prison but there had always been uncertainty about his identity, which was based purely on circumstantial evidence. This work came about as a result of an archaeology dig at Cork prison during which the putative remains of Thomas Kent were exhumed. The Garda and Forensic Science Ireland contacted University College Dublin and asked for their help with the identification. Thomas Kent has two living nieces and their DNA was used for comparison. Because DNA degrades over time it's generally only possible to retrieve small fragments of ancient DNA ranging in length from 30 to 70 base pairs. The short length of the DNA fragments also means that traditional IBD methods of determining kinship cannot be used. For this project Carlsson’s team developed a brand-new methodology for estimating relatedness using small amounts of genetic data. The methodology was checked by using computer simulations on data from the 1000 Genomes Project. The researchers concluded that there was less than a one in a million chance that they were wrong. The nieces and Thomas Kent were five trillion times more likely to be related than not related. A paper has been submitted for publication and is available in the BioRxiv preprint server. I hope a recording of this presentation will be made available. If so, I highly recommend that you watch it.

Jens Carlsson explains a new methodology that was used to identify the remains of the Easter Rising rebel Thomas Kent

The highlight of the conference for me was a very moving presentation from Diahan Southard on “The marriage of genetics and genealogy: a case study”. Diahan’s mother was adopted from an unmarried mother’s home in Seattle, Washington. Through a combination of genetic matches and genealogical research Diahan's mum was eventually reunited with some of her biological family. The talk raised some interesting ethical issues showing how advances in technology mean that DNA testing can sometimes have unanticipated consequences. Diahan ended the presentation with a short video which reduced some of the audience to tears. This talk was not recorded, but I understand Diahan will be presenting at Rootstech so, if you get a chance, do go and hear her story. (Update: this talk was recorded after all and the recording will be available online for  about six months.) Diahan also gave an excellent talk on the basics of autosomal DNA testing. She has a good eye for design and produces some wonderful whizzy slides which were the envy of all the other speakers.

Diahan Southard shared the story of her mother's reunion with her biological family

Maurice Gleeson gave a thought-provoking talk on the use of SNPs and STRs in the Gleeson Project and his attempts to link the results into the Irish annals. Genetic genealogists use the term NPE to describe so called non-paternity events where the surname does not correspond with the transmission of the Y-chromosome. We’ve always thought this term is less than satisfactory, but no one has ever been able to come up with a suitable alternative. The term misattributed paternity is used in cases where the results don’t match as expected. However, most NPEs are not surprises but are well documented illegitimacies, and the family historian knows in advance that his results will not match other people with his surname. Maurice proposed two new alternatives – “breaks in transmission” and “surname switches” – both of which I quite like. Perhaps these new names might one day catch on.

Maurice Gleeson proposed some alternative terminology for NPEs

The final talk of Genetic Genealogy Ireland 2016 was given by Ed Gilbert from the Royal College of Surgeons in Ireland. Ed gave us an update on the Irish DNA Atlas Project and the Irish Travellers Project. Work is ongoing on the Irish DNA Atlas Project so the talk was not recorded, and we weren't allowed to take photographs. I can't say too much about the results that were presented other than that this is a very exciting project. To qualify for the project participants must have eight great-grandparents born with 30 to 50 kilometres of each other. The genealogies are verified by researchers from the Genealogical Society of Ireland. Only one in eight of all applicants are accepted. If the criteria were relaxed they could have over 2000 participants. The team have retained all the contact details so that they can contact all these people in the future if required. The project currently has 230 individuals, and they have genetic data on 194 participants. It has been possible to identify distinct regional clusters within Ireland. The Irish data has been compared with data from the People of the British Isles Project and a preliminary comparison has been done with European data. It is hoped that a paper will be submitted by the end of this year or the beginning of next year when all the analyses have been completed. We are all looking forward to seeing this paper in print.

Unfortunately, because of the terms and conditions agreed when the Irish DNA Atlas Project was set up, the data will not be made available to other researchers. Also, the people who have participated in the project will not have access to their own raw data. However, if you do have four grandparents all born within the same region of Ireland you can participate in another project run by the British company Living DNA. For details see this article in the Irish Post. If you have tested at Family Tree DNA and have four grandparents born within the same region of Ireland you can join Maurice Gleeson's Irish Grandparents Project.

Ed Gilbert also briefly summarised the results of the Irish Travellers Project. Irish travellers represent 6.6% of the Irish population. Fifty individuals participated in the project. They each had a minimum of three grandparents with a traveller surname. Sixty per cent of the participants were female. The analysis was based on autosomal DNA, and they currently do not have any Y-DNA or mtDNA data. Ed Gilbert presented a poster about the Irish Travellers Project at the recent meeting of the American Society of Human Genetics. A paper has been submitted for publication and they are currently dealing with reviewer comments so hopefully the paper will be published in the next few months.

Ed Gilbert presents some preliminary results from the Irish DNA Atlas Project

As there were so many exciting talks this year I didn't get much of a chance to look at the various stands at the show but I did manage to escape briefly and take a few photographs. DNA testing was very much at the forefront this year. Family Tree DNA had the market in Ireland to themselves until 2015 when AncestryDNA launched their autosomal test in Ireland and Britain. This year Family Tree DNA and AncestryDNA were joined by a third company, Living DNA, who are selling an interesting new genetic ancestry test that offers regional breakdowns. The presence of three DNA companies at this event is a sign that DNA testing is now starting to go mainstream. The DNA stands all seemed to be very crowded and I'm sure a lot of kits were sold.

Crowds gather on the Family Tree DNA stand

The AncestryDNA stand

The Living DNA stand

The day after the conference had finished we met up for the ISOGG Day Out, organised by Gerard Corcoran, ISOGG's regional rep for Ireland. Gerard always pulls out all the stops for us but I will write about this in a future blog post.

Other articles about Genetic Genealogy Ireland 2016

• Genetic Genealogy Ireland 2016 by John Reid at the Anglo-Celtic Connections blog
• BTOP and a(nother) rant about ethnicity tests by John Grenham at Irish Roots

Update 17th December 2016
The recordings of all the available lectures are now available free of charge online on the Genetic Genealogy Ireland YouTube channel.

© 2016 Debbie Kennett