Wednesday, 19 July 2017

The end of the road for BritainsDNA and myDNAGlobal

I wrote back in May last year that the BritainsDNA family of companies, which includes ScotlandsDNA, IrelandsDNA, CymruDNAWales and YorkshiresDNA, had been rebranded under the new name of MyDNAglobal after the company was taken over by Source BioScience.

On checking the MyDNAglobal website today I discovered that the company is no longer taking orders. The following notice now appears on the website
Dear Customers 
It is with regret that effective from 3rd July 2017 will no longer be accepting new orders. 
Whilst we have enjoyed offering this individual service it is unfortunately not something we are able to provide going forwards. 
All existing orders will be honoured – if you have recently purchased a test and have yet to return your sample please do so by 31 August 2017 so we can process your results.  
Unfortunately we cannot guarantee that samples received after 31 August 2017 will be processed. 
For those customers who have already received their results these will be available to you via our website until 31 August 2018, after which they will no longer be available. 
If you have any queries please email our support team: 
Thank you for your custom.
If you've tested with any of these companies I would suggest that you download all your data while you have the chance.

For further information on the demise of BritainsDNA and background information on Source Bioscience see the article by Ewan Lamb BritainsDNA - a thing of the past.

Tuesday, 18 July 2017

The GPS origins test - the DREAM chip compared with AncestryDNA and 23andMe transfers

Last November I wrote a review the GPS Origins test in which I was able to compare reports for four people with very different ethnicities, all of whom received disappointing results. However, the reports were all based on transfers of data from 23andMe or AncestryDNA. The GPS Origins test was designed for use with a custom microarray chip known as the DREAM (Diversity of REcent and Ancient huMan). This chip has has over 800,000 markers compared with 700,000+ markers for the AncestryDNA v1 chip and 500,000+ markers for the 23andMe v4 chip.

The DREAM chip was developed by Dr Eran Elhaik who is currently based at the University of Sheffield. In February this year Dr Elhaik gave a presentation at Rootstech about the DREAM chip. I was not at Rootstech, but the handout from the presentation is available online and this provides some technical details about the chip:
DREAM consists of ~800,000 markers: 730,000 autosomal,50,000 X-chromosomal, 18,000 Ychromosomal, and 1,300 mitochondrial markers. DREAM includes unique ancestry informative markers for 500 worldwide populations. It also includes a large number of ancient markers unique to over 300 ancient genomes that allows inferring relatedness to our ancestors (1000 to 50,000 years ago). These powerful markers allows DREAM full compatibility with the Geographical Population Structure Origins (GPS OriginsTM technology. GPS OriginsTM traces the geographical origins of your parental ancestries, down to home village in some cases, trace their migration routes, and date their arrival to these locations. GPS OriginsTM has a time resolution that ranges from 100 to 10,000 years.
In addition DREAM tests around 2,000 genes to "determine ~40 adaptations (e.g., high altitudes) and special traits (e.g., eye color)".

The GPS Origins test does not currently match you with your genetic cousins but it's possible that this feature will added in the future. The chip includes around 400 copy number variants (CNVs) which it is claimed will help to improve the accuracy of relationship predictions for 4th and 5th degree relatives (first cousins and first cousins once removed). It should be noted that the currently available cousin-matching tests from AncestryDNA, 23andMe and Family Tree DNA can already be used to make reliable inferences about relationships up to about the fourth cousin level when the results are used in combination with genealogical information. It may that the use of CNVs is intended to improve inferences when contextual information is not available.

The developer describes DREAM on his blog as "a new microarray that can support concepts that do not yet exist. The difference between DREAM and the old-generation arrays is the same as between smartphones and plain cell phones. They can both make phone calls and text one another, but only smartphones allow running apps. In other words, some of the tests that would be developed on DREAM may work on the old arrays, but not all tests. We’ll do our best to support to all microarrays, of course". (The full blog post can be read here.)

I don't know what the overlap of markers is on the DREAM chip compared with the chips used by AncestryDNA, 23andMe and Family Tree DNA but with additional markers, many of which were specifically selected for biogeographical ancestry, it seems plausible that if a test was done on the chip for which it was designed the results might be much improved. However, it is apparent that many of the problems with this test are related to the methodology, which cannot be replicated and is conceptually unsound. (See my previous review of the GPS Origins test for a fuller discussion of these issues and links to sources.)

Peter Moriarty contacted me after stumbling upon my original review. He has tested on the DREAM chip but he had also previously transferred his raw data to GPS Origins from both 23andMe and AncestryDNA. He has very kindly given me permission to share his reports. This gives us a unique opportunity to compare the results obtained from the DREAM chip with results from AncestryDNA and 23andMe transfers. Here is what Peter says:
Like some of your other contributors I was disappointed with the 1st raw date upload results, which was from my Family Tree results, so I thought I would retry by supplying the raw data from 23andMe. Again the results were disappointing (to say the least), and curiously they show different locations where my DNA apparently first showed a traceable origin. SO, having dug a hole, and having received responses/explanations from GPS Origins that they couldn’t be responsible for raw DNA data from other sources, I jumped in the hole I dug, and ordered a full GPS Origins DNA test. The total costs of these tests was $357.00! So I hope they can be of some benefit to at least expose GPS Origins for what they are.
Here is the migration map that Peter received from his first data upload.

Here is the migration map from Peter's second data upload. Peter does not know which of these maps relate to AncestryDNA and 23andMe and so far the company have not been able to tell him which one is which.

Here are the results that Peter received after being re-tested on the DREAM chip.

Peter also sent me a copy of his Gene Pool percentages which he said were "close to identical from all three test results":


Complete Results

#1 Fennoscandia 20.6% Origin: Peaks in the Iceland and Norway and declines in Finland, England, and France

#2 Southern France 14.5% Origin: Peaks in south France and declines in north France, England, Orkney islands, and Scandinavia

#3 Orkney Islands 12% Origin: Peaks in the Orkney islands and declines in England, France, Germany, Belarus, and Poland

#4 Western Siberia 10.4% Origin: Peaks in Krasnoyarsk Krai and declines towards east Russia

#5 Basque Country 9.5% Origin: Peaks in France and Spain Basque regions and declines in Spain, France, and Germany

#6 Sardinia 8.1% Origin: Peaks in Sardinia and declines in weaker in Italy, Greece, Albania, and The Balkans

#7 Southeastern India 8% Origin: Endemic to south eastern india with residues in Pakistan

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

#9 Northern India 4.3% Origin: Peaks in North India (Dharkars, Kanjars) and declines in Pakistan

#10 Arabia 1.6% Origin: Peaks in Saudi Arabia and Yemen and declines in Israel, Jordan, Iraq, and Egypt

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

#12 Western South America 0.8% Origin: Peaks in Peru, Mexico, and North America and declines in Eastern Russia

#13 Pima County: The Sonora 0.8% Origin: Peaks in Central-North America and declines towards Greenland and Eskimos

#14 Bougainville 0.6% Origin: Peaks in Bougainville and declines in Australia

#15 Northwestern Africa 0.1% Origin: Peaks in Algeria and declines in Morocco and Tunisia

#16 West Africa 0.1% Origin: Peaks in Senegal and Gambia and declines in Algeria and Morocco

Peter comments on his test results as follows:
My whole and almost only interest in genealogy started as a quest to find out where my Irish Moriarty ancestors lived in Ireland prior to emigrating from Ireland to America. I know the names of the parents of the first ancestor who left arrived in America via Canada in 1961, and am sure they lived in County Kerry, probably on or near the Dingle Peninsula. Of course the 3 autosomal DNA tests contributed little to this quest, so I also took Family Tree’s Y-DNA and mtDNA tests. Interestingly I was contacted by a surname project administrator who told me that I was related to a group of 11 people (so far) who had surnames indicating Irish and English ancestry. They encouraged me to purchase a BigY analysis. I mention all of this because this report indicates that my Irish heritage goes back to at least 365 AD. So this shows, if not proves, that I have Irish ancestry going back at least to that time. The three GPS Origins test results indicate the places where my ancestors’ formations are traceable. As you can see from my GPS Origins results, these locations range from England to Estonia to Switzerland to Sweden to Albania to Georgia and end up in Germany, Russia, Norway, and England! All depending upon which test to believe.

GPS Origins explained away the fact that I don’t show any Irish ancestry results is that their test results probably preceded my records. They also said that probably my maternal and paternal ancestors were from different locations and therefore the GPS Origins results would split the difference and indicate locations somewhere in the middle. Huh? So much for the claim to locate the actual village of origin! Although the paper and historic documentation I have from family records only goes back from 200 years (Irish) and 400 years (German), I believe that my mother was 75% Scotch/Irish + 25% Germanic, and my father was 50% Irish and 50% English, so at least for the past 6 to 10+ generations, they were predominately English/Scotch/Irish. (We also believe there is a little Scandinavian DNA mixed in with the Scotch and perhaps the Irish ancestors), so the GPS Origins results are baffling to say the least.

That having been said, I am only a beginner in understanding DNA. I understand that atDNA tests are good for genealogical research for about 6 generations back, and are also good for describing one’s deep ancestral ethnic makeup. The GPS Origins test results contributed zero to the former, and as far at the latter is concerned, the results may be accurate, but it seems unlikely that my ancestral make up is from such disparate locations as Russia/Siberia (17.4%) and India (12.3%) in addition to Sardinia and Basque Country etc, especially since none of these geographic locations showed up in any of the 3 other autosomal DNA tests that I took, all of which pegged my ancestors as 96-99% Western European!
I should point out that the BigY test Peter took is a Y-chromosome test. The Y-chromosome is passed on from father to son and provides information about ancestry on the direct male line. Y-DNA testing is often used in surname projects because the transmission of the Y-chromosome usually corresponds with the inheritance of surnames. The Y-chromosome doesn't get chopped up like autosomal DNA through the process of recombination and so it can be used to trace male lines back for hundreds or thousands of years.

Autosomal DNA provides information about our ancestors on all our family lines, but because it is diluted with each new generation you only have to go back a few generations before we find ancestors who drop off our genetic family tree. Peter has 64 gggg grandparents, only one of whom was a Moriarty, and so this line represents a tiny fraction of his total pedigree. Although he clearly has deep Irish connections on his Y-DNA line, these results would not be expected to correlate with his genetic ancestry from an autosomal DNA test. In addition, our DNA can only be matched to reference datasets that are in the company's database. If a population is not included then you will be matched to the next closest population. I have been unable to find a full list of the reference populations used by GPS Origins to determine whether or not they have any data from Ireland.

Clearly Peter gained no benefit from being tested on the DREAM chip. In fact the results he received from the full test were even more off the mark than the reports from the transfers. He has paid a hefty price to find this out. Thank you Peter for sharing your results so that others can learn from your experience and will not be tempted to waste their money.

The GPS Origins test was previously sold by DNA Diagnostics Center and had its own dedicated website. The test is now being sold through HomeDNA which appears to be a subsidiary of DNA Diagnostics Center. If you previously tested with the company you will now need to get your account authorised on the new site in order to access your results. The test is currently only sold in the US and Canada.

Within a few hours of publishing this article I was informed by Peter Moriarty that, following a complaint he made to GPS Origins, they provided him with a full refund for all three tests.

Related blog posts

Friday, 14 July 2017

An update to the AncestryDNA kit management system

AncestryDNA have announced that the process for activating kits will change from 18th July onwards. Up until now it has been possible to add multiple kits for your relatives to your own DNA account. The disadvantage of this process is that the person taking the test does not have full control of their own DNA and data, and there is the potential for misuse. Under the new system every person who takes a DNA test will be required to set up their own Ancestry account. They can then choose to assign sharing roles to their friends and family members. There are different levels of sharing which are explained in this graphic provided by AncestryDNA.

As can be seen, if Manager status is granted, you will be able to have full access to your relative's account and do everything that was previously possible when sharing kits under a single account. The notable and important exception is that the owner of the DNA sample is the only one who can remove Manager status. This means that the person who has taken the test will always have the right to access his or own data. Unfortunately we have sometimes had cases in the genetic genealogy community where a kit manager has blocked the tester from accessing his or her own account. This will ensure that such situations will not arise in the future.

There are no extra costs involved. If you already have an Ancestry subscription and your relatives are sharing with you it will still be possible to benefit from all the additional features available to subscribers for the kits you manage on behalf of your relatives (eg, the ability to view the full trees of their matches, and the ability to see features such as the shared ancestor hints and DNA Circles).

AncestryDNA have written a blog post with information about the changes which you can read here. This post has been updated since I read it late last night to provide clarification of points raised in the comments.

This change brings AncestryDNA into line with Family Tree DNA, who already require each customer to have their own individual account. It also ensures that AncestryDNA comply with the Genetic Genealogy Standards which state that "Genealogists believe that testers have an inalienable right to their own DNA test results and raw data, even if someone other than the tester purchased the DNA test."

I don't know what motivated this change but it seems likely that AncestryDNA were influenced by the forthcoming General Data Protection Regulation (GDPR) which will apply throughout the European Union and also in the UK from 25th May 2018 onwards. For further details on the new data protection laws see the leaflet from the Information Commissioner's Office on Preparing for the General Data Protection Regulation (GDPR): 12 Steps to Take Now.

A key tenet of data protection legislation is that the individual has right of access to his or her own data. By ensuring that each person has their own AncestryDNA account it will be much easier to ensure that this happens. Although Ancestry is not required to comply with European legislation for customers outside Europe it seems sensible to provide their international customers with the same levels of data protection as their European customers.

Further reading

Tuesday, 11 July 2017

Parent and child comparisons at AncestryDNA

I've now had both my parents tested at AncestryDNA and their results have recently come in. By testing my parents I will be able to assign matches to paternal and maternal sides. My parents will potentially match people who are not on my own match list and they will have more robust matches than I do with more distant matches. I thought it would be a useful exercise to take stock of our matches, admixture reports and genetic communities to serve as a baseline for future comparisons.

DNA results and matches pages
Here is my dad's results page. He currently has 54 fourth cousins or closer, and 157 pages of matches making a total of 7850 matches. He has three shared ancestor hints, no DNA Circles and no New Ancestor Discoveries.

Here is my mum's results page. She currently has 116 fourth cousins or closer, and 212 pages of matches making a total of 10600 matches. She has no shared ancestor hints, no DNA Circles and no New Ancestor Discoveries.

Here is my results page. I currently have 66 fourth cousins or closer and 193 pages of matches (9650 matches). I have two shared ancestor hints, no DNA Circles and no New Ancestor Discoveries.

Note that the shared hints shown above do not include shaky leaf hints for the parent/child relationships. When I first checked the results hints were provided but the relationships were shown as aunt/uncle and nephew/niece rather than parent/child. I presume this was a bug as these hints have now disappeared.

As a result of testing my parents I've now gained one new shaky leaf hint. This is a predicted 5th to 8th cousin who shares a single segment of 11 centimorgans with my dad. According to the family trees they are third cousins twice removed and their common ancestors are William Cruwys (1793-1846) and Margaret Eastmond (1792-1874) who married in 1814 in Rose Ash, Devon. One of their sons emigrated to Prince Edward Island in Canada and this match is a descendant of this PEI family. Fortunately she has provided a detailed family tree, but I shall also look forward to corresponding with her and comparing notes. Interestingly this lady does not appear in my own match list so it looks as though I have not inherited this single segment from my dad.

I now also have a new filter on my match page

This filter allows me to see at a glance which matches I share with my mum and which matches I share with my dad. However, the list is restricted to those matches which are fourth cousins or closer. I can understand the restriction on shared matches for cousin relationships but it would be useful if AncestryDNA would let us sort our entire match list by paternal and maternal matches.

Comparing admixture percentages
Now let's have a look at the admixture results in more detail. AncestryDNA call this report an "Ethnicity Estimate" though strictly speaking ethnicity is self-determined and has no bearing on our genetic ancestry. AncestryDNA say that the admixture reports reflect our ancestry from "thousands of years ago". I cannot trace our family tree back thousands of years but here are the details of my dad's recent genealogical ancestry:
  • Four grandparents born in England: Bristol, Gloucestershire, London (x2).
  • Eight great-grandparents born in England: Bristol (x2), Devon, Essex, Gloucestershire, Hertfordshire, London (x2).
  • Fifteen great-great grandparents born in England: Devon (x2), Bristol, Essex, Gloucestershire, Hertfordshire (x 2), London. One great-great grandparent born in Scotland (location not known). The birthplace of seven of his English great-great-grandparents is unknown. Four were probably born in Bristol or in a nearby county. Three were Londoners who could have moved to London from anywhere in England. 
Here is my dad's Ethnicity Estimate.

Here are the details of my mum's genealogical ancestry:
  • Four grandparents born in England: London (x2), Hampshire (x2).
  • Eight great-grandparents born in England: Berkshire, Hampshire, London (x3), Somerset, Wiltshire. The birthplace of one great-grandparent is not known but he was probably born in London.
  • Fifteen great-great-grandparents born in England: Bedfordshire, Berkshire (x2), Gloucestershire, Hampshire (x2), Hertfordshire, London (x2), Somerset (x2), Wiltshire.
  • One great-great-grandparent born in Ireland: County Kerry. The birthplace of three of her English great-great-grandparents is unknown. One was probably born in Hampshire. The other two were probably Londoners who could have come from anywhere in the country.
Here is my mum's Ethnicity Estimate.
Here is my own Ethnicity Estimate.

As can be seen, there is a wide variation in the results and there is little correlation between the admixture percentages and our known genealogical ancestry. Admixture results can sometimes provide useful insights but the results should not be taken too literally. It's also worth remembering that, although the percentages have been given labels based on modern nation states, the regions which these labels cover extend well beyond the present-day national boundaries, as can be seen from my ancestry map below. The Irish component actually extends over much of the United Kingdom. The Great Britain component overlaps with Ireland and extends into northern Europe. The Europe West component extends into southern and eastern England.

Genetic communities
Genetic communities provide information about our genetic ancestry within the last few hundred years. They are also a useful way of filtering your matches so that you can focus on the matches who have family trees from the same country and the same locations as you where you stand the greatest chance of identifying a genealogical connection. I'm currently in one genetic community for the Southern English. The confidence level is 95%. I have 63 matches amongst the 204,681 AncestryDNA members in this community.

My mum and dad both have two communities: Southern English and The Welsh & English West Midlanders. In both cases the confidence level for the Southern English community is 95% and the confidence level for the Welsh community is 20%.

My dad has 45 matches in the Southern English community and nine matches amongst the 58,768 Ancestry DNA members who are in the Welsh & English West Midlanders community.

My mum has 77 matches in the Southern English community and 14 matches in the Welsh & English West Midlanders community

Neither my mum nor my dad have any known ancestry from Wales or the West Midlands. However, on looking at the map of this community, you can see that it covers a wider area and actually extends into Gloucestershire, Wiltshire, Oxfordshire and North Somerset where we do have known ancestry.

I now have a lot of new matches to work with, and it's going to be a great help having my parents' results available for comparison. With autosomal DNA it always helps to test as many close relatives as possible. If you can't test your parents you should try and test aunts and uncles, siblings and cousins to get the best possible representation of the DNA of all your ancestors.

Saturday, 3 June 2017

Southern California Genealogical Society Jamboree and DNA Day

On Tuesday next week I'm heading off to the US. I've been invited to speak at the Southern California Genealogical Society's annual Jamboree and DNA Day which this year includes a British research theme. I will be giving four presentations and participating in the DNA panel session.

I'm looking forward to meeting some of my genetic genealogy and geneablogging friends who I have previously only known through Facebook groups and mailing lists. I'm also looking forward to meeting some of my US friends from the Guild of One-Name Studies.

Here are the details of my sessions.

Thursday 8th June
12.30-1.45 pm
TH016 DNA Luncheon - The DNA of the British Isles
Britain and Ireland have been in continuous occupation since 12,000 years ago when hunter gatherers arrived. Agriculture began at the start of the Neolithic (4,000 BC). The country has been invaded by Romans, Angles, Saxons, Picts, Danes, Vikings and Normans. What can DNA testing tell us about the people of these islands? Pioneering research projects are starting to provide some answers. Levels: Beg., Int., Adv.

Friday 9th June
2.30-3.30 pm
FR016 The Joy of Surnames
Each surname has its own story to tell. This lecture provides an overview of the history and distribution of surnames with a focus on surnames originating in the British Isles. The one-name study approach can provide breakthroughs that would not be possible by restricting research to your own family tree. Become a worldwide expert on your chosen surname. Level: Beg., Int., Adv.

Friday 9th June
5.30-6.30 pm
FR028 DNA and Genealogy: Experts Discuss Latest Developments
DNA testing experts will discuss the connection between DNA testing and genealogy, what tests are available, and which companies provide which tests. Advances being made in the field of Genetic Genealogy will be examined. Audience questions will be answered in the second half of the program.
Level: Beg., Int., Adv. Moderator: Alice M. Fairhurst, MS, Panelists: Angie Bush, MS; David R. Dowell, PhD; Debbie A. Kennett; Drew Smith, MLS; Diahan Southard

Saturday 10th June
8:30 a.m. - 9:30 a.m.
SA004 Census, Parish, and Other Records in the UK
Explore the key name-rich records from parish registers to protestation returns that will supercharge your British research. Level: Beg, Int. Adv.

Saturday 10th June
3.30-4.30 pm 10th June
SA039 Crossing the Pond with Your Surname DNA Project
A successful surname DNA project adopts a global approach to recruitment but with a primary focus on the country of origin. The approach of whole surname reconstruction is particularly effective for surnames from England and Wales due to the availability of centralised records from which to reconstruct family trees. This helps identify suitable candidates for DNA testing. Level: Beg., Int., Adv.

You can see the full programme on the SCGS website.

If you read my blog and will be going to the conference do come and say hello.

Tuesday, 30 May 2017

Updated MyHeritage Ethnicity Estimates are now available for all users

MyHeritage have now launched their updated Ethnicity Estimates. The reports are based on a new analysis covering 42 geographical regions, some of which are exclusive to MyHeritage. The new reports are available to all customers, including those who took advantage of the free transfer from other testing companies. The ethnicity reports will be available free to new users who upload their results in the "coming months".

There is an option to play a personalised video of your "Ethnicity Estimate Experience" complete with original music. You can see an example here.


Here are my results from MyHeritageDNA.

You can zoom in and see your results in more detail. There is also a useful option to overlay the locations shown on your family tree onto your map.

The results for Northwestern Europe correlate reasonably well with my known genealogy but I have no recent Italian ancestry.

Below is the press release I received from MyHeritage.
MyHeritage Launches New Comprehensive DNA Ethnicity Analysis 
MyHeritage DNA’s new Ethnicity Estimate covers 42 different ethnic regions, more than any other major DNA company; and is uniquely provided for free to those who upload their DNA data from other services
TEL AVIV, Israel & LEHI, Utah, May 30, 2017 - MyHeritage, the leading global destination for family history and DNA testing, and the makers of the successful MyHeritage DNA product, today announced the launch of its new and improved Ethnicity Estimate. The new analysis, developed by the company’s science team, provides MyHeritage DNA customers with a percentage-based estimate of their ethnic origins covering 42 ethnic regions, many available only on MyHeritage, representing the most comprehensive report of its type available on the market. This fascinating report gives users a much better understanding of who they are and where their ancestors came from. The Ethnicity Estimate is presented in an original and engaging format, making it not only interesting but also fun to watch and share.

MyHeritage is unique among the main industry players in allowing users who have tested their DNA already with another service to upload - for free - their data to MyHeritage. Those users receive DNA Matches for free, for finding relatives based on shared DNA. Beginning this week, users who have already uploaded their DNA data to MyHeritage, or who will upload it in the coming months, will receive - for free - the new Ethnicity Estimate. This benefit is not offered by any other major DNA company. 
Development of the new Ethnicity Estimate raises the number of ethnic regions covered by MyHeritage DNA from 36 to 42. It was made possible thanks to MyHeritage’s Founder Populations project — one of the largest of its kind ever conducted. For this unique project, more than 5,000 participants were handpicked by MyHeritage from its 90 million strong user base, by virtue of their family trees exemplifying consistent ancestry from the same region or ethnicity for many generations. All project participants received complimentary DNA tests and allowed MyHeritage’s science team to develop breakthrough ethnicity models based on the generated data. Thanks to this analysis, MyHeritage DNA has become the only mass-market percentage-based DNA test that reveals ethnicities such as Balkan; Baltic; Eskimo & Inuit; Japanese; Kenyan; Sierra Leonean; Somali; four major Jewish groups - Ethiopian, Yemenite, Sephardic from North Africa and Mizrahi from Iran and Iraq; Indigenous Amazonian; Papuan and many others. In some cases, competing products can identify and report an aggregated region (e.g., Italian & Greek), whereas MyHeritage has better resolution and identifies Greek, Italian and Sardinian ethnicities separately. 
MyHeritage’s new Ethnicity Estimate is delivered to users via a captivating “reveal” experience (view example). It features animation and, as of this week, also original music composed by MyHeritage. Each of the 42 ethnicities has a distinctive tune, based on the region’s cultural elements; all tunes seamlessly connect to each other. This makes the report fun to watch and share over social media. 
MyHeritage DNA user Tiffany Bowden said “I'm very happy, and very proud to discover where I come from, and through my MyHeritage DNA ethnicity results, now I have the background which helps me understand who I am as a person.” 
“DNA is the future of the family history industry and we’re delighted to enter the DNA space with strong energies and a fresh perspective”, said Gilad Japhet, Founder and CEO of MyHeritage. “Leveraging MyHeritage's top assets which are its talented, technology-focused engineering team, and the gigantic internationally diverse web of family trees encompassing more than 2.5 billion profiles entered by our users, our comprehensive new Ethnicity Estimate has Innovation written all over it. We’ve been able to dig deeper where others had considered their work complete. Presented in a fresh look and generously given for free to DNA data uploaders, our users will be thrilled and can count on us to continue to innovate in DNA and delight them with new discoveries about who they really are.” 
Dr. Yaniv Erlich, Chief Science Officer at MyHeritage, said, “For MyHeritage's science team, this major update of our Ethnicity Estimate is only an appetizer. There are excellent installments on the way, and users can prepare for a feast! We have detailed plans to increase accuracy, extend our Founder Populations project further, and improve the resolution for ethnicities of great interest to our users from highly diverse origins. Our goal is to use science to further the public good, and to bring the best innovations of our science team to the public.” 
The MyHeritage DNA test consists of a simple cheek swab and takes less than two minutes 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, approximately four weeks later. 
MyHeritage strengthened its position as the leader in global family history, when it launched the MyHeritage DNA kits in November 2016, which have rapidly become hugely popular ever since. The company’s mammoth user base of 90 million users worldwide, more than 7.7 billion historical records, massive user-generated family tree database and availability in 42 languages, all provide a robust foundation for MyHeritage DNA. The company’s DNA offering currently provides two main features: detailed ethnicity reports that reveal the user’s ethnic and geographic origins, and DNA Matches for finding relatives based on shared DNA. In recent months, people have been successfully using MyHeritage DNA to reunite with long-lost family members.

Friday, 12 May 2017

New issue of the revived Journal of Genetic Genealogy

The first issue (Volume 8 Number 1) of the newly relaunched Journal of Genetic Genealogy (JoGG) is now available online. Some of the articles were published online as preprints towards the end of last year but this is now the complete issue.

JOGG is a free open access peer reviewed journal which provides a much-needed platform for publication of articles on all aspects of genetic genealogy. Here is a description of the journal's aims and scope:
Topics include, but are not limited to, autosomal DNA inheritance, surname DNA projects, geographic patterns in genetic data, phylogenetic analyses, haplogroup categorization, and mutation rates. Genetic genealogists have access to larger datasets with more markers than are usually available to genetic researchers, although the sampling may not be random (e.g., surname studies) and the datasets may vary in quality (e.g., inconsistent marker sampling). Therefore, JoGG is a forum for research that may not fall within the scope of more genetically oriented journals. The journal is likely to have an audience in both the lay and academic communities.
Thank you to Leah Larkin for taking on the role of editor and thank you to Linda Magellan for all her hard work on the website and preparing the content for online publication.

Contributions for future issues of the journal are welcome. Detailed instructions can be found on the Instructions for authors page.

Here is a list of contents for the new issue:

Y-DNA Testing of a Paper Trail - The Fox Surname Project
By Joseph M. Fox III and David E. Fox

Evidence of early gene flow between Ashkenazi Jews and non-Jewish European inmictochondral DNA haplogroup H7
By Doron Yacobi and Felice L. Bedford, Ph.D.

Columns, Editorials and Features

Editor's Corner
Leah Larkin, Ph.D.
Welcome to the new Journal of Genetic Genealogy

Satiable Curiosity
Ann Turner, M.D.
Generation Gaps: A Sign of Microdeletions?

CeCe Moore
The History of Genetic Genealogy and Unknown Parentage Research: AnInsider's View

Blaine T. Bettinger, Ph.D., J.D.
The Shared cM Project: A Demonstration of the Power of Citizen Science

Reviews and announcements

Review By:  Leah Larkin, Ph.D.
App:  Genome Mate Pro 

Review By:  Jennifer Armstrong Zinck
Book:  Genetic Genealogy in Practice
Authors:  Blaine T. Bettinger and Debbie Parker Wayne

Further reading
The Journal of Genetic Genealogy and scientific publishing by Leah Larkin. The DNA Geek, 12 May 2017.

UCL workshop on "Personal Genetic Testing: Challenges, Pitfalls, and Benefits in and Beyond the Clinic"

The front entrance of UCL. Photo by Neil Turner.
Originally published on Flickr under a Creative Commons Licence.
We are hosting a workshop at University College London (UCL) on 27th June on “Personal Genetic Testing: Challenges, Pitfalls, and Benefits in and Beyond the Clinic”

It will take place between 09.45 and 19.30 at the UCL Anthropology Department, 14 Taviton Street, London.
The event is free to attend but there are only a limited number of spaces at the venue so if you are interested in coming along make sure you register at EventBrite:

Here is the timetable for the meeting:

09.45. Welcome

10.00. Keynote Speech: Genetics and Identity - Adam Rutherford (BBC)

11.00-11.20. ~ Coffee Break ~

11.20. Science of Ancestry Testing, Focus Group - Garrett Hellenthal (UCL), Debbie Kennett (UCL), Turi King (University of Leicester), David Nicholson (Living DNA), Mike Mulligan (AncestryDNA), Mark Thomas (Moderator, UCL)

12.20-13.30. ~ Lunch ~

13.30. Ethical Issues in Personal Genetic Testing, Panel - Ernesto Schwartz-Marin (Durham University), Speaker TBC, Matthias Wienroth (Moderator, Northumbria University)

14.30. Social Science Perspectives on Personal Genetic Testing and Identity, Panel - Catherine Nash (Queen Mary University), Speaker TBC, Sahra Gibbon (Moderator, UCL)

15.30-16.00. ~ Coffee break ~

16.00. Security and Privacy Challenges in Genomics, Tutorial - Emiliano De Cristofaro (UCL)

17.00. Medical and Research Aspects of Personal Genetic Testing, Short Talks - Stephen Beck (UCL), David Bentley (Illumina), Joyce Harper (UCL, moderator)

18.00. Reception

Please note that the agenda may change and will be confirmed a few days before the event as we are still finalising some invitations. Please check the Eventbrite page for updates.

The rapid growth of the Personal Genetic Testing (PGT) market raises a number of important scientific, ethical, legal and social concerns, including data security, privacy, and identity, as well as issues around the accuracy, utility, and communication of inferences regarding ancestry, biological predispositions, disease vulnerability, and the sharing of personal data with third parties.

At the same time, PGT has great potential value to individuals and healthcare providers. Realising this potential requires evidence-based standards for translating commercial genetic testing data into actionable medical information, and educating clinicians and the public on what can and cannot be inferred from personal genomes.

Sponsored by the UCL Grand Challenges Initiative, this workshop aims at establishing a highly interdisciplinary, highly engaged UK-based community of researchers and practitioners that are eager to tackle the various challenges associated with personal genetic testing and inform policymakers, clinicians, and companies.

Monday, 8 May 2017

Dante Labs offers whole genome sequencing to European market for €850

A new biotech start-up by the name of Dante Labs is joining a growing number of companies who are offering whole genome sequencing at ever more competitive prices. Dante is a global company based in the US but with an office in Italy. They are catering specifically for the European market and are offering a high-coverage (30x) whole genome sequencing test with interpretation for €850 (about £718 or US $929 at current exchange rates). Customers can have access to their raw data on request.

It is not clear what is provided with the Dante Laboratories interpretation service. There are no sample reports available on the website and no details are provided of the scientific personnel who will be doing the analysis.

Many of the companies selling whole genome sequencing tests (eg, Veritas Genetics and Sure Genomics) only sell their test in the US and require the customer to order through a doctor whereas the test from Dante is available direct to the consumer. There are two companies  Full Genomes Corporation and YSEQ  which sell whole genome testing worldwide for the genetic genealogy market. Both companies specialise in the interpretation of Y-chromosome results and do not provide medical reports.

For details of other companies offering whole genome sequencing see the list of DNA testing companies in the ISOGG Wiki.

Below is the press release I received from Dante Labs.
Dante Labs offers EUR 850 Whole Genome Sequencing 
New York, NY April 18, 2017 – Dante Labs today announced that they are offering 
Whole Genome Sequencing (WGS) and interpretation at only EUR 850 (ca. $900). While American individuals were able to access whole genome sequencing at $1,000, this innovation marks the first time Europeans can access whole genome sequencing below EUR 1,000. 
The sequencing includes bioinformatics analysis and interpretation, which are crucial to leverage genetic information and apply it into decisions about disease monitoring, prevention, nutrition, exercise, health monitoring and more. 
The Whole Genome Sequencing is run at 30X, which makes the achievement even more impressive. 
Dante Labs has chosen a selected list of partners to develop DNA sequencing services “accessible to everyone”. “By leveraging only the world’s best genetic technologies, we ensure that our customers have access to the best in the world of genetics,” says Dante Labs co-founder Andrea Riposati. “Genetics has seen tremendous developments in the last decade. Just think that the first whole genome sequencing cost north of $2.4 billion. For too long, only few people could benefit from the impact of genetic research. It’s healthcare, so I say it is important everyone benefits from it. The key to empower everyone with high-quality, advanced genetics it is to decrease the price. By integrating in the value chain, removing unnecessary intermediaries, developing synergies with strategic partners and leveraging economies of scale, we are able to offer the whole genome sequencing at only EUR 850.” 
Dante Labs offers a suite of direct-to-consumer DNA tests, including BRCA1 and BRAC2 sequencing, Whole Exome Sequencing and Common Hereditary Cancer. 
About Dante Labs
Founded in 2016, Dante Labs is a global pioneer in developing direct-to-consumer genetic services. The company mission is to empower people with knowledge and insights about their own genetic information so that they can live healthy, long and happy lives. Dante Labs has offices in the US and Europe.

Saturday, 29 April 2017

Who Do You Think You Are? Live 2017

It has been a very busy April. At the beginning of the month I was away for the weekend at the Guild of One-Name Studies conference in Boorley Green, SouthamptonWho Do You Think You Are? Live was held the following weekend at the NEC in Birmingham. We then went away for a short family break in Dorset. As a result I've had a lot of catching up to do and I've only just had the chance to do my usual write-up of WDYTYA Live.

WDYTYA is always the highlight of the genealogical calendar in the UK. It's the largest family history show in the UK and in Europe, and is the one event that is not to be missed. It's always good to catch up with friends, and meet new people, but three days is never enough, especially when you are giving talks, organising speakers and helping out on a stand. There were many people I would like to have seen but didn't get a chance to speak to.

In one of my volunteer roles for ISOGG (the International Society of Genetic Genealogy) I once again helped to organise the lecture schedule for the DNA workshop. Family Tree DNA very kindly provided sponsorship for the lecture theatre. We had another great line-up of speakers. We are very grateful to the genetic genealogists and academics who gave so generously of their free time, and especially so as none of the speakers receives an honorarium or reimbursement of expenses.

Thanks to the sterling efforts of Maurice Gleeson, most of the talks have been recorded and will be uploaded to the Who Do You Think You Are? DNA Lectures channel on YouTube over the course of the next couple of weeks. To get an idea of the delights in store you can check out the DNA lecture schedule here.

I presented a talk on autosomal DNA demystified, and was very pleased that Tony Wood, a member of my Devon DNA Project, was able to join me and share his story with the audience. Tony has been using both Y-DNA and autosomal DNA to try to identify the father of his illegitimate great-grandfather James Polyblank Wood. James was born on 15th July 1870 in Kingsbridge Union Workhouse in Devon and was the son of Sarah Wood. Previously genealogists would struggle to identify the father in such situations but genetic genealogy is now starting to provide answers.

Tony belongs to haplogroup N-P189.2, which is rarely seen in the for UK and occurs today at the highest frequency in Serbia. Uros Uzelac, the volunteer administrator of the Haplogroup N-P189.2 Project at Family Tree DNA, has taken a special interest in Tony's Y-DNA results, and was able to come along to WDYTYA to meet Tony. The photo below shows Tony and Uros meeting Max Blankfeld, Vice President of Operations and Marketing at Family Tree DNA.

Uros Uzelac, Max Blankfeld and Tony Wood
DNA testing had a major presence at WDYTYA this year and seemed to be a major topic of conversation. There were four companies selling DNA tests: Family Tree DNA, AncestryDNA, Living DNA and MyHeritage DNA. All the companies had special show prices, and there were lots of people stocking up and buying multiple DNA kits. We can look forward to many more matches once these tests have been processed. BritainsDNA (now trading under the name MyDNA.Global) were noticeable for their absence for the second year running.

I'd written a buyer's guide to DNA testing for the May issue of Who Do You Think You Are? Magazine. With immaculate timing early issues of the magazine had arrived at the NEC just in time for the opening. I was delighted to discover that my article is featured on the front cover. There is a preview of my article on the WDYTYA Magazine website but you'll need to buy the magazine to see the testing company comparisons.

Family Tree DNA
Family Tree DNA had a stand opposite the DNA lecture area. The were selling their Family Finder test for just £40, and had special offers on their Y-DNA and mtDNA tests too. The BigY test was on sale for existing customers, and a number of people took the opportunity to upgrade their kits. There seemed to be a constant crowd of people around the FTDNA stand.

I was delighted to see Princess Maria Sviatopolk-Mirski again. We first met at WDYTYA Live in 2010 when the show was held at Olympia in London. I wrote about Princess Maria's interesting mtDNA results here. She had made a special visit to WDYTYA so that she could upgrade her mtDNA test to the full mitochondrial sequence. She belongs to the very rare haplogroup R0a, and it will be interesting to see what her full sequence test reveals.

Living DNA
Living DNA had by far and away the most impressive stand at the show with a big flashing screen with an ever-changing array of images. They were selling their DNA test for £99, and seemed to be attracting a lot of interest.

On Thursday evening Living DNA invited about twenty or so genetic genealogists to a special meeting at the Hilton Metropole Hotel where we had the opportunity to learn more about their plans and to ask questions. Here are a few insights I gleaned from that meeting and from other conversations at WDYTYA:
  • The Irish grandparents' project has been going well. They have collected about 1200 samples, and an update should be ready in the next month or so.
  • Living DNA have now launched a German DNA Project. For details see my blog post A DNA Day sale at  Living DNA and the launch of a new German People Project.
  • A Scottish Project is due to launch in June. They are hoping to do similar projects in other European countries.
  • Autosomal matching is being worked on, and two different systems are currently being tested.
  • The autosomal transfers will be coming in two to three months' time for a fee. They want to make sharing and transferring from other companies very easy. The idea is that it would be done with a quick click through.
  • Living DNA hope to collaborate with other companies on trees rather than coming up with their own system.
  • Raw data downloads should be available in the next few months. They are still in the process of validating all the data from the new Illumina GSA chip.
Nick Thorne, the "Nosey Genealogist", did an interview with David Nicholson of Living DNA which can be seen on YouTube.

AncestryDNA had a major presence at WDYTYA, and were the overall sponsor of the show. They sponsored the lectures in the Celebrity Theatre, which included two DNA lectures each day. The AncestryDNA test was on sale for just £49, which was a huge saving on the usual price of £79. By picking up kits at the show visitors were also able to save on the £20 shipping fee. There seemed to be a lot of people buying multiple Ancestry kits to test their friends and relatives.

AncestryDNA had their own lecture area on their stand, where their scientists and genealogists presented a series of talks. The last session each day provided an opportunity to learn more about their new Genetic Communities feature. I didn't have the chance to attend one of these sessions but I did have a chat with Mike Mulligan, AncestryDNA's Product Manager, who was able to get answers to some of the questions that I had:
  • The threshold for matching in the Genetic Communities is currently set at 16 cMs, though it's possible that the threshold will be lowered in the future. (In the scientific paper which provided proof of concept of Genetic Communities a threshold of 12 cMs was used.)
  •  New communities will be added as they are identified rather than being rolled out all once in a big upgrade.
  • Ancestry apply a special algorithm known as Timber to downweight "pile-up regions" (sections of the genome where large numbers of people match as a result of shared human history, shared population history or some other reason). Timber wasn't mentioned in the scientific paper but I received confirmation that Timber is applied before the communities are identified. The communities work with the match data which means that the feature is only applied after the phasing and IBD identification has already taken place.
I paid a visit to the MyHeritage DNA stand and had a chat with Daniel Horowitz, their Chief Genealogical Officer. I've taken advantage of the free autosomal DNA transfer to MyHeritage. At the moment the transfers are not receiving admixture reports but Daniel very kindly gave me a sneak preview of my own report. He explained that these results are not being rolled out to the people who've done the transfers. The company have been collecting reference samples and are working on providing regional breakdowns. The transfer kits will receive an admixture report once the regional breakdowns are ready to be rolled out. They are also trying to work on a chromosome browser.

I've had a lot of problems with the MyHeritage trees. I'd previously received a free three-year PremiumPlus MyHeritage subscription courtesy of a special offer from the Guild of One-Name Studies. However, once this offer expired I found that I was locked out of my account because I'd added more than 250 people to my tree. In order to transfer my DNA to MyHeritage I had to set up a new account under a different e-mail address. Daniel merged the two accounts together for me and very kindly gave me a free MyHeritage PremiumPlus subscription in consideration of my status as a "DNA expert".

I've not yet seen the figures for the attendance at this year's show but it was my impression and that of other people I spoke to that the numbers were down on last year. A number of exhibitors from last year did not make the return trip including big names like The National Archives, Eneclann, and the National Library and Archives of Ireland. A number of family history societies who attended last year were also missing this year including the Gloucestershire Family History Society, the Hampshire Genealogical Society, the Huguenot Society, the Jersey Family History Forum, the Peterborough and District FHS and the Wharfedale FHS. There seemed to be more stands than usual given over to charities, most of which seemed to be related to dogs and cats. Perhaps they think family historians are more likely to be pet owners. Presumably these charities were given discounts to fill up some of the spaces but it would have been better to offer reduced rates to the family history societies who often struggle to pay the high costs of a stand at the show. In addition they have to pay travel expenses and provide accommodation for their volunteers so that they can man their stands for three days. I also think that the organisers could do a lot more to advertise the show, particularly in the national press.

The NEC has a spacious comfortable exhibition hall with good facilities but the venue is in the middle of a large industrial estate which is totally lacking in atmosphere and designed for cars not pedestrians. Because so many people travel to Birmingham by car or by bus, they all leave early to avoid the rush hour traffic so by mid afternoon each day the crowds start to thin out, and it becomes very quiet. I know some people prefer being in Birmingham but I would much rather that WDYTYA returned to London.

Other blog posts
A number of other bloggers have written about their experiences at WDYTYA Live:
Other resources
Who Do You Think You Are? Live will take place next year from 26th to 28th April 2018 at the NEC, Birmingham, so put the dates in your diary now. See you all there!

In the meantime you can enjoy some more photos from this year's show below.

Update 3rd May 2017
Immediate Media have announced that Who Do You Think You Are? Live will no longer take place for "financial reasons". The event has been running at a considerable loss and it has not been possible to bring into profit. See this blog post from Who Do You Think You Are Magazine for further details. The Society of Genealogists are hoping to arrange a replacement event. See the SOG blog for further information.

I've been advised by Else Churchill of the Society of Genealogists that attendance this year was 13,500 which was slightly up on last year, but clearly not enough to make a difference.

The long queue of people outside the NEC waiting for the doors to open.
Linda Magellan - DNA for beginners
Katherine Borges - The benefits of being a DNA project administrator
Garrett Hellenthal - The science of admixture percentages. Photo by Joss ar Gall.
Julia Bell - The strange affair of the Kings Cross baby and other mysteries solved with autosomal DNA
Maurice Gleeson - Researching your surname with Y-DNA. Photo by Joss ar Gall.
Emily Aulicino - Finding your way through DNA. Photo by Joss ar Gall.
John Cleary - What is SNP testing and how can it enhance a Y DNA surname or genealogy project? Photo by Joss ar Gall.
Mark Jobling - The Y-DNA and mtDNA landscape of Britain and Europe
Brian Swann - DNA emigration and shipping
Graham Holton - Y-chromosome SNPs in the historical era: discovering cascading hierarchies of SNPs
Linda Kerr - DNA for absolute beginners. Photo by Joss ar Gall
Michelle Leonard - What can autosomal DNA testing do for your family tree? Photo by Joss ar Gall
Dan Bradley - Recent findings in ancient Irish DNA
Mark Thomas - Ancient DNA and British genetic history.
Andrew Millard - Digging up your ancestors. Photo by Joss ar Gall
Victoria Moore - Applying forensic DNA techniques and applications to historical casework. Photo by Joss ar Gall.
Adam Rutherford - A brief history of everyone who ever lived
Debbie Kennett, Mark Thomas, Dan Bradley and Adam Rutherford
The Guild of One-Name Studies stand.
From left to right: Peggy Homans Chapman, Geoff Giles, Paul Featherstone, Sue Swalwell and Cliff Kemball.
Katherine Borges, Director of ISOGG with (left) Uros Uzelac, group administrator, N-P189.2 Project, and Gareth Henson, group administrator, Haplogroup T Project, and a member of the  ISOGG SNP tree team.
The Devon Family History Society's stand.
The ISOGG stand. Photo by Joss ar Gall.
Who Do You Think You Are? Magazine.