Thursday 22 November 2018

The complete guide to DNA testing kits - my article in Who Do You Think You Are? Magazine

There only just over four weeks to go until Christmas. If you're thinking of buying a DNA test as a Christmas present or if you just want to stock up on kits to test your relatives, now is a good time to buy as there are lots of sales for Black Friday and Cyber Monday. To help you to decide which test to buy I have written a guide to DNA testing for the Christmas issue of Who Do You Think You Are? Magazine. You can read a preview of the article here but you'll need to buy the magazine to read the full article.

The magazine is on sale in W H Smith's and other newsagents in the UK. You can also buy a digital version of the magazine here.

There is also a special offer on annual subscriptions to Who Do You Think You Are? Magazine with 49% off the usual price until 27th November. The print edition is just £34.99 and the digital edition is £33.26. You will receive 13 copies of the magazine each year.

I've provided below a quick round-up of the DNA sales. These details were updated on 23rd November 2018.

Black Friday DNA sales
Family Tree DNA's Family Finder test is on sale for Black Friday weekend for just $39 (£30), the lowest price ever for this test and for any autosomal DNA test.  The offer ends on 26th November.

You can also buy the Family Finder test in special "bundles" with other tests and get a 40% saving.

If you buy a Family Finder test you can add on a 37-marker Y-DNA test for just  $99 (about £77). If you order a Y-DNA test make sure you join the relevant surname and/or geographical project. You can find a full list here.

The mtDNA full sequence test is just $139 (£109) when purchased with the Family Finder test.

On top of all the above savings at FTDNA, shipping is just $9.95 for all kits both domestic and international for the sale period.

The AncestryDNA test is on offer until 26th November for just £49 exccluding shipping.

The MyHeritage DNA test is also on sale for £49 and their sale ends on 23rd November at 11.59 pm.

Living DNA have now teamed up with Findmypast and you can buy the newly branded Findmypast DNA test for just £59, the lowest price ever. The offer includes 14 days of free access to Findmypast's entire archive of more than 9 billion records and historical newspapers. The sale ends at midnight (GMT) on Monday 26th November. Note that Y-DNA and mtDNA are not included in this offer and will need to be purchased as add ons for £19.50. If you want Y-DNA and mtDNA haplogroups you'll need to buy direct from the Living DNA website where the 3-in-1 test is on offer for £69.

Living DNA are gradually rolling out their relative-matching Family Networks feature to beta testers. I just got access today though so far I don't match anyone else other than my parents.

The 23andMe Ancestry test is on sale for £59 and the Health and Ancestry service is on sale for £94. The offer ends on 26th November at 5 am GMT.

Note that there is an additional charge for postage and packing for all the above tests.

There are similar offers in other countries so check out the company websites to find out the prices in your local currency. Even better, check out this article from Michelle Leonard on the Ancestry Hour blog which provides a detailed overview of all the Black Friday offers.

Sunday 18 November 2018

A 30x whole genome sequence from Dante Laboratories for €169 (£150 or $199)

Dante Laboratories have announced a special one-off promotion for Black Friday week. They are offering a next generation sequencing whole genome sequence (WGS) test at 30x coverage for just €169 (£150 or $199). The offer will end at midnight US Pacific time on Monday 26th November. Customers will also receive their raw data and a customised report without extra cost.

30x is the standard medical-grade coverage and this is the lowest price I've ever seen for 30x WGS.

The cost of the test includes the provision of a VCF file which can be downloaded from your account. There will be an option to download the BAM file from the cloud free of charge. Alternatively the FASTQ and BAM files can be sent on a 500 gigabyte hard disk for an additional fee of €59.00 ($69).

For further details visit the Dante Labs websites in the EU and the US: (US website)

The offer is also available through the Amazon market place in the US only.

There is a link to download a sample customised report on this page on the Dante Labs website.

See also the FAQs relating to this special offer.

Dante Labs introduced whole genome sequencing to the European market for €850 in May 2017. The price subsequently dropped to €449 (£400 or $499). There was a special offer in the US on Amazon Prime Day when the WGS test was on sale for $349.

What you can do with your whole genome data?
If you have your whole genome sequenced what can you do with the data? There are currently no companies that offer a relative-matching service using WGS. If you want to use a WGS test to search for relative matches you will need to extract the relevant SNPs to create a kit suitable for upload to GEDmatch. Thomas Krahn from YSEQ has provided some free code on Github to extract a 23andMe (v3) style file from a whole genome sequence BAM file (raw data file). Make sure you check out GEDmatch's revised terms of service first.

If you are interesting in discovering new SNPs from your WGS Y-chromosome data there are various tools that allow you to work with BAM files. YFull is already able to process BAM files from Dante Labs. Full Genomes Corporation offers a whole genome sequencing interpretation service for $75 and an advanced analysis for $250. The R1b Data Warehouse submission process has already been reconfigured to accept VCF files from Dante Labs and they can process WGS BAMs submitted to, However, at the moment no one appears to be working with these files.

You can also upload your whole genome sequence to the literature retrieval service Promethease to get a range of health and trait reports.

Dante Labs WGS data can also be uploaded to where you can share your data for research and purchase reports from their app store.

There are also many other sites where you can share or upload your raw data. See the list of raw DNA data  tools in the ISOGG Wiki.

Other whole genome sequencing providers
Direct-to-the-consumer whole genome sequencing is available from Thomas Krahn's company YSEQ at 15x, 30x and 50x. The 15x test currently costs $740. There is an additional fee of $600 for a 30x test and a $100 fee for Sanger sequencing confirmation if required. The YSEQ test includes genealogically relevant reports for the Y-chromosome and mitochondrial DNA. YSEQ ships worldwide.

Full Genomes Corporation also provides a range of direct-to-the-consumer whole genome sequencing services as well as Y-chromosome sequencing options but sadly they stopped selling to European Union countries in May as a result of the EU's new General Data Protection Regulation (GDPR).

Nebula Genomics announced this week that they were offering low coverage 0.4x whole genome sequencing for $99. They are testing a model using cryptography and blockchain technology which will allow consumers to sell their health data to researchers and choose which research they would like to participate in. If you want a medical grade 30x sequence you would have to hope that a company or research organisation would be sufficiently interested in your data to pay for the sequencing.

There are various American companies that sell whole genome sequencing such as Veritas Genetics and Sure Genomics but they don't sell their tests outside the US and you also need to order through a doctor.

There were rumours circulating on Twitter last week that Illumina would be announcing a $100 genome in the next few months. We might therefore see other companies trying to jump on the WGS bandwagon in the next few months or additional offers in the run-up to Christmas. However, I understand that Dante are using BGI sequencing technology and not Illumina. It will be interesting to see how the market plays out.

See also this discussion A 30x full-genome sequence for $199 (€169 £150) on the Wikitree G2G forum.

Further reading
Dante Labs and the $1000 genome by Rebekah Canada

Thanks to Thomas Krahn for the information about the BGI sequencing technology used by Dante Labs. Thanks to James Kane for the information about the R1b Data Warehouse and

Thursday 13 September 2018

MyHeritage now accepts transfers from Living DNA and 23andMe but will soon start charging for some features

MyHeritage have announced that they can now accept uploads from people who have tested at Living DNA and on the 23andMe v5 chip. Both these companies currently use the Illumina Global Screening Array chip, which has very limited overlap with the chips used by the other testing companies.

MyHeritage have also announced that they will soon be introducing charges to access some features. Here's an extract from their blog.
As of December 1, 2018, our policy regarding DNA uploads will change: DNA Matching will remain free for uploaded DNA data, but unlocking additional DNA features (for example, ethnicity estimate, chromosome browser, and some others) will require an extra payment for DNA files uploaded after this date. We will announce the full details of the new policy once it is finalized, closer to December 1st. All DNA data that was uploaded to MyHeritage in the past, and all DNA data that is uploaded now and prior to December 1, 2018, will continue to enjoy full access to all DNA features for free. These uploads will be grandfathered in and will remain free.
To read the full article click here.

If you've not yet added your kit to the MyHeritage database make sure you do so before the deadline. MyHeritage have some useful features for interpreting results, and they are also promoting their tests in some European countries, such as Germany and the Netherlands, that are poorly represented in the other company databases. MyHeritage also have a useful feature which allows you to see the countries where your matches live. Although my match list is still dominated by distant matches with Americans I now have 368 matches with people living in Britain as well as 130 Australian matches. I have quite a few cousins in Australia that I'm hoping to make connections with. It's always a good idea to have your DNA represented in all the databases as you never know where you're going to get the breakthrough matches.

Updated Ethnicity Estimates now available for everyone at AncestryDNA

I wrote back in June about my updated Ethnicity Estimate at AncestryDNA. Yesterday AncestryDNA rolled out the updates to everyone in their database. Many people will find that the changes are quite dramatic. I went from being just 21% Great Britain to 94% England and Wales, and my results are now a much better reflection of my recent ancestry within the last few hundred years. There have been a few tweaks since I got my results and the England and Wales cluster has now been renamed as England, Wales and Northwestern Europe.

The improvements have been made possible by the inclusion of many more people in the reference panel, which has now gone up from 3,000 to 16,000 samples. Previously Ancestry had just 111 samples from Great Britain, 138 from Ireland and 166 from Europe West. Now they have 1,519 samples from England, Wales and Northwestern Europe, 500 from Ireland and Scotland, 1,407 from France and 2072 from Germanic Europe. AncestryDNA are also using a different methodology and are comparing long stretches of linked markers rather than single markers in isolation. This means that the results are a reflection of our more recent ancestry within the last 500 to 1000 years rather than our distant ancestry from one thousand or more years ago.

AncestryDNA have written a White Paper explaining the methodology, which includes details of all the reference populations used. They will also be publishing a scientific paper about their methods.

Most people with British and Irish ancestry have found that their results are greatly improved and are much more in line with their known ancestry. The results will be more mixed for people from other countries. You can only be matched to the populations in the reference panel so if your country is not represented you will be matched to the next closest population. For example, AncestryDNA now has reference populations for Norway, Sweden and Finland but no distinct dataset for Denmark. Danes are therefore likely to get matched with Norway and Sweden or England, Wales and Northwestern Europe.

India, with a vast and diverse population of over 1.3 billion people, is poorly represented with just 65 samples from Western and Central India. There is also still a long way to go to get more meaningful results for people with African ancestry. There is more genetic diversity in Africa than in the rest of the world combined, which means that much larger reference panels are needed to capture this diversity. Ancestry are addressing this problem by starting an African Diversity Project, and we can look forward to further improvements in the years to come.

I always used to say that "ethnicity" estimates should be taken with a large pinch of salt and are really only of entertainment value, but we are now starting to get the stage where the results for some people can provide a reasonable approximation of their ancestry. If you've already done your family history research, the results won't tell you anything more than you already know, but at least there should now be a lot less confusion. As more populations are added to the reference panels we can expect to see similar improvements for other populations.

Update 15th September 2018
AncestryDNA will be presenting a poster at the ASHG conference in San Diego in October on Polly, the algorithm they are using for their updated ethnicity estimates. Here are the details:
PgmNr 2772/W: High-throughput local ancestry inference reveals fine-scale population history 
Authors:A. Sedghifar1; S. Song1; Y. Wang1; K. Noto1; J. Byrnes1; E.L. Hong1; K.G. Chahine1; C.A. Ball2 
1) AncestryDNA, San Francisco, CA.; 2) AncestryDNA, Lehi, UT.  
An individual’s genome can be viewed as a mosaic of haplotype blocks from different ancestral origins, the sizes of which depend on the timing of admixture events. Recovering the length of these local ancestry blocks, together with their ethnic origin, provides information on the admixture and recombination events that shape current day genomes, thus shedding light on personal history as well as population history. As genomic databases rapidly approach sizes on the order of millions of genomes, there is an increased demand for super efficient approaches to identifying local ancestry blocks. Our team has developed Polly, an ultra fast algorithm for estimating genome-wide ancestry proportions in admixed individuals. Here, we present a modification of the Polly algorithm for accurately inferring local ancestry blocks. We evaluated the performance of our algorithm on simulated admixed individuals, and also assessed accuracy of estimated tract length distributions in admixed populations. Finally, we applied our method to estimate tract length distributions in historically admixed African American and Latin American populations.
The poster can be seen here.

The ASHG abstracts can be searched here.

Further reading
I've provided links below to the various official documents from AncestryDNA along with links to a few other blogs which might be of interest.

AncestryDNA links

Friday 7 September 2018

MyHeritage partners with W H Smith to sell DNA kits in UK high streets

23andMe already sells DNA kits in some Superdrug stores in the UK as well as online. Now MyHeritage have announced that they will be selling their kits on your local high street at W H Smith's. The tests will be sold in a bespoke product known as the MyHeritage Family History Discovery Kit, which includes a three-month Complete plan subscription. This provides access to all the family tree features and historical records on MyHeritage.

Here is the press release I received from MyHeritage.
MyHeritage Partners with British Retailer WHSmith to Distribute DNA Kits

Tel Aviv, Israel & London, United Kingdom, September 7, 2018 — MyHeritage, Europe’s leading service for DNA testing and family history, announced today the launch of a retail partnership with WHSmith. This marks the first partnership of its kind for MyHeritage in the UK, and the first time that MyHeritage DNA tests will be available for purchase in retail stores in Europe.

Under the new partnership WHSmith distributes a unique product named MyHeritage Family History Discovery Kit, which bundles MyHeritage’s popular at-home DNA test with 3 months of access to MyHeritage’s suite of premium online genealogy services. This allows consumers to receive detailed ethnicity reports and connect with their relatives around the world through the power of DNA testing, and to utilize MyHeritage’s 9-billion-strong collection of historical records and family tree tools to embark on a journey to uncover their family history. 
The distribution of the kits via local retail stores caters to the surging demand for at-home DNA testing throughout Europe, and in the UK in particular. The affordable price of the MyHeritage Family History Discovery Kit available through WHSmith, £89, makes it an ideal gift for the Christmas season ahead.

The MyHeritage DNA test is notable for its ease of use. It involves a simple 2-minute cheek swab. In addition to the DNA test, the Family History Discovery Kit comes with 3 months of access to MyHeritage’s Complete plan, which includes all family tree features and historical records on MyHeritage, seamlessly integrated with the DNA test results.

“Interest in DNA testing and family history research in the UK market has skyrocketed lately,” said Akiva Glasenberg, MyHeritage’s Business Development Manager. “We have created a unique bundled product to satisfy this need and are pleased to offer it to UK consumers through selected WHSmith High Street stores. Customers can look forward to discovering their ethnic origins and family history and making use of MyHeritage’s vast DNA database and historical record collections to make new connections with their relatives in the UK and overseas.”

The MyHeritage Family History Discovery Kits are on sale in 200 WHSmith High Street stores, as well as online via

Thursday 19 July 2018

New partnership between Findmypast and Living DNA

Findmypast has announced a partnership with the British-based DNA testing company Living DNA. Living DNA tests can now be purchased on the Findmypast website.

The UK price is £99 via this link:

The US price is $99 via this link:

A new service offering co-branded kits is scheduled to be launched in the autumn.

There are further details in the following press release which has been received from Findmypast.


  • The two leading British companies are creating a new DNA experience focused on uncovering British & Irish roots
  • New service will be launched in autumn 2018
  • Living DNA tests now available at Findmypast
Thursday July 19th 2018: Leading British and Irish family history website, Findmypast, has today announced a new partnership with the providers of the world’s most advanced DNA test, Living DNA.

Together, the two British companies are creating a new DNA experience that is designed to help customers explore their British and Irish roots. This new experience will combine cutting-edge science with traditional family history research methods, allowing families to discover more about their past and present.

Living DNA’s tests provide a unique breakdown of ethnic identities associated with 21 regions across Britain and Ireland by analysing unique combinations of linked DNA. This proprietary method delivers a level of detail that is currently unmatched by any other test available on the market.

By combining technology from the leading British DNA company with deep expertise and Findmypast’s vast collection of more 9 billion historical records and newspaper articles, family historian's will be able to make new discoveries about their British & Irish genetic history.

Living DNA testing kits are now available to purchase at and co-branded kits will be launched when the new integrated Findmypast and Living DNA service is introduced later in the year.

“Our partnership with Findmypast continues Living DNA’s mission to make DNA testing simple. We are passionate at not only providing cutting edge ways of looking at your DNA but to do so with strict privacy measures by  never selling your data. This partnership allows the most precise DNA test on the market to work together with Findmypast’s family history records in a way not done before” says Living DNA Co-Founder, David Nicholson. 
Tamsin Todd, CEO of Findmypast, said: “As the world leader for British and Irish records, we work hard every day to help our customers feel the thrill of making discoveries about their families. I’m delighted that we are partnering with a British company, Living DNA, who are pioneers in DNA technology, and look forward to combining our expertise in DNA technology and historical records to help people around the world connect with their British and Irish roots."
See also the blog post Findmypast partnership from Living DNA.

Tuesday 26 June 2018

Oxford Ancestors is not dead yet

Update 11th January 2021

The reprieve was short lived and Oxford Ancestors ceased trading on 31st December 2020. See my blog post Oxford Ancestors have ceased trading.

I wrote back in March this year that Oxford Ancestors was planning to close down this summer.

I've now learnt that they have had a reprieve. The following newsflash was published on their website on 3rd May.
Oxford Ancestors is NOT closing down after 18 years. I have enjoyed those years immensely and it has been a rare privilege to have you send me your DNA from all over the world. We started because I wanted people to be able to share in the excitement of the research being done in university laboratories like my own in Oxford but rarely reaching beyond the halls of academe. That has all changed now and cheap DNA tests are widely available, even if their meaning is sometimes dubious. The popularity of ‘ethnic testing’ is a case in point, where even religious persuasion is given a genetic foundation by some companies. Have they never heard of the outrages of ‘racial purity’ and the eugenics movement or is it just one more business opportunity? 
NEWS FLASH 3rd May 2018
I have just received some very good news. Our labs at the University, which were threatened with closure for up to a year from July 2018 owing to redevelopment of the Science Area, have now been reprieved. In light of this I am very pleased to announce that Oxford Ancestors will remain open for business as usual. 
Please accept my apologies for our below-standard service over the last few weeks. 
Bryan Sykes MA PhD DSc
Here is a screenshot from the Oxford Ancestors website captured by the Internet Archive on 23rd May 2018.

Thursday 7 June 2018

Updated "ethnicity" estimates at AncestryDNA

Update. The updated ethnicity estimates were rolled out to the entire AncestryDNA database on 12th September 2018. See my blog post here for further details.

AncestryDNA are starting to roll out updated "ethnicity" reports. The number of reference samples has gone up from 3,000 to 16,000 (a five-fold increase), and there are 17 new Regions (the feature that was formerly known as genetic communities). Ancestry say that they have found "improved ways" to analyse our data:
DNA is made up of strings of four different letters: A, C, G, and T. Our old algorithm looked at one letter at a time, and based on where that letter appeared in your DNA, it decided where that bit of DNA came from. Without getting too technical, our new algorithm reads longer stretches of your DNA at once, making it easier to identify regions of the world where you ancestor once roamed.
You can see the updated FAQs here.

I have updated reports on my own Ancestry account and the accounts for my parents but not everyone is yet seeing the new reports. Apparently the updates are in the test phase until 12th June. Here are the updated reports for me and my parents. It may be that these reports will be updated again once the testing has been completed.

On checking into my account I am given the option to preview my new estimate.

There is a short questionnaire to fill and I can then access my new report:

Here is the updated report for my dad:

Here's the updated report for my mum.

Ancestry have provided some fun answers to common questions. My mum and I have an answer to the question "How do I get my Viking tattoo removed?" (Fortunately this was not something I had ever considered doing on the strength of my 1% Scandinavian assignment!)

My dad has an answer about the loss of his Iberian ancestry. (Previously 10% of his genetic ancestry was matched to the Iberian peninsula.)

If you accept the new estimate it becomes your default. The page showing the differences between the old and new version is then no longer available so you might want to save a screenshot for reference. Note too that although the Regions are listed as Migrations in the preview, they revert to their previous status when you accept the new report.

All my ancestors that I can trace in the last five or six generations are from England with the exception of one great-great-great grandfather on my dad's side from Scotland and one great-great-great grandmother on my mum's side from Ireland. Our updated reports are now a much better reflection of our recent genetic ancestry, though the 10% Norwegian and 3% Scandinavian in my dad's results appear to be an anomaly. I hope that, when the results are rolled out to all customers, Ancestry will publish an updated white paper with details of the new methodology and the new reference populations. I presume the massive percentage increase in the amount of our ancestry assigned to England and Wales is a reflection of the large number of people from these countries who are now in the AncestryDNA database I am sure that we can look forward to further refinements in the future.

Wednesday 6 June 2018

Cybersecurity incident at MyHeritage

There has been a cybersecurity incident at MyHeritage.  For full details see the following blog posts from MyHeritage:
MyHeritage will be expiring all existing passwords over the next few days but you might prefer to change your password now rather than wait for the reminder.

MyHeritage have responded impeccably to this incident with the rapid and transparent manner in which they disclosed the breach and the way that they are now requiring all users to change their passwords.

Monday 21 May 2018

Updates to the Terms of Service and Privacy Policy at GEDmatch

In the light of the revelations that the citizen science website GEDmatch was being used by law enforcement to identify victims of crime and suspects in murder investigations, the site owners have now updated the Terms of Service and Privacy Policy. When you log into your GEDmatch account you will now receive the following message:
The new Terms of Service and Privacy Policy can be seen here. (You do not need to be a GEDmatch user to access the link.)

It is of note that GEDmatch have now clarified that "DNA obtained and authorized by law enforcement" can be uploaded for two very specific uses to: "(1) identify a perpetrator of a violent crime against another individual; or (2) identify remains of a deceased individual".

There is also a new section which explicitly spells out the potential uses of your DNA results including the fact that your DNA could be used for "Familial searching by third parties such as law enforcement agencies to identify the perpetrator of a crime, or to identify remains."

The user is presented with three options: (1) to accept the new terms and conditions; (2) to reject the new policy and delete their account; (3) to decide later.

Preliminary thoughts
When the news first broke that GEDmatch had been used to identify a murder victim known as the Buckskin Girl, I expressed concerns about the use of GEDmatch for this purpose without the explicit informed consent of the users. The use of GEDmatch in the identification of a suspect in the Golden State Killer case exacerbated those concerns. I am therefore very pleased that GEDmatch have taken prompt action to update their site policy. The revised policy is also a commendable example of transparency, and a welcome use of plain, simple and direct language.

If you'd asked me two months ago what would happen if it was revealed that GEDmatch had been used by the police in a murder investigation I would have predicted that large numbers of people would have withdrawn their data and that GEDmatch would have been pressurised to restrict access to law enforcement. I couldn't have been more wrong. While views have been mixed there has been a positive reaction from many members of the genetic genealogy community who are happy that their DNA has potentially been used to catch a killer.

GEDmatch have made a bold and brave move in legitimising the use of their site for law enforcement searches in specific circumstances. I think they are being genuinely altruistic and want to have GEDmatch used to bring closure to the affected families. They are to be commended for this decision.

However, we now have a very interesting situation. GEDmatch is a citizen science website that was initially set up to provide DNA and genealogy tools to help adoptees who were searching for their biological parents. At present all the police DNA databases use autosomal STR (short tandem repeat) markers, and up to 24 such markers are currently used. Although the number of markers used is very small, they are specially chosen for their variability, and there are very low odds that two people would have an identical DNA fingerprint. Autosomal STRs can be used for familial searches but are only effective for identifying very close relationships. The standard tests used for genetic genealogy use a different type of marker known as a SNP (single nucleotide polymorphism). Upwards of 600,000 autosomal SNPs are tested on a microarray chip. Results can be compared in a database using the amount of DNA shared and the length of the shared segments to make predictions about relationships. Predictions can be made with reasonable confidence in combination with genealogical records for relationships up to about the second cousin level. Predictions are more difficult for more distant relationships because of the random nature of DNA inheritance and the limitations of family tree research. As far as I'm aware, there is no police force in the world which has its own autosomal SNP database for familial searches. Bizarrely, as Sarah Zhang has pointed out has become "the de facto DNA and genealogy database for all of law enforcement". Given that probably around 80% of GEDmatch users are in the US, it is likely that, in the short term at least, it will only be the American police using GEDmatch in this way, though that situation could change as the consumer genetic testing market continues to grow internationally.

There are still many issues to be addressed going forwards. I have many questions but no answers:
  • Can privacy policies on websites be legally enforced?
  • What oversight will there be of these searches to ensure that the police use these powers responsibly?
  • Will there be an ethics committee or some other supervisory body which will scrutinise applications for such searches?  In the UK oversight is provided by the Biometrics Commissioner and Forensic Science Regulator. Do similar bodies exist in America and in other countries?
  • What measures will be taken to ensure that searches are proportionate and that large numbers of innocent third and forth cousins identified from a crime scene sample are not brought into the police dragnet? In America this could mean that your cousin will be stalked by armed police in an attempt to get a discarded item to obtain a DNA sample.
  • Which genealogists are qualified to perform such searches and how can the police verify whether a genealogist has the necessary skills and will behave in an ethical way?
  • How will people feel if their DNA is used to falsely incriminate an innocent person? There have already been recorded cases of well meaning volunteer search angels misidentifying the biological parents of adoptees. The stakes are much higher in criminal investigations, and especially in US states which still have the death penalty.
  • Is there a case for the police to upgrade their own databases so that they use autosomal SNPs instead of STRs?
All these issues will be discussed in the months and years to come, and it will be interesting to see what happens. For now I think it's important that everyone gets their voice heard. What do you think?

Saturday 19 May 2018

Genealogy and DNA casualties of GDPR – farewell to World Families Network, Ysearch and Mitosearch

On 25th May GDPR  the General Data Protection Regulation  will come into force in the European Union. Although the UK is leaving the European Union in 2019, the legislation will also apply to the UK and will be enshrined in UK law through the new Data Protection Bill, which is currently going through Parliament. Although this is an EU regulation, it applies to companies and organisations worldwide which have customers or members in the EU, though it is not at all clear how the EU will be able to enforce the regulation in practice in countries over which it has no jurisdiction. Nevertheless, most big companies outside the EU are taking the legislation seriously and it has already had the benefit of encouraging large American companies like Facebook and Google to improve their previously lax attitudes to privacy.

However, while the aims of GDPR are sound, the legislation is hitting small companies and volunteer organisations particularly hard. Valuable volunteer time is being taken up in interpreting and enacting the requirements. GDPR sets a high bar for consent, and all consents have to be GDPR compliant. Although fresh consent is not always necessary, some organisations have decided to take no chances and have sought renewed consent regardless. Like everyone else, I have been bombarded with e-mails from companies and organisations asking me to give consent to receive e-mails and newsletters that I've already asked to receive. There have been endless other e-mails informing me of updated privacy policies. With the best will in the world I simply do not have the time or inclination to read all the fine details of these thousands of new policies, which rather defeats the object of the requirement for informed consent.

Some people have decided that GDPR is not worth the effort:
There have been two big casualties in the world of genetic genealogy.

World Families Network
World Families Network, a website run by Terry Barton, will be shutting down on 23rd May. Terry decided that the "ambiguity and uncertainty of the bureaucratic requirements" of GDPR "are just more than we care to deal with". See here for the full text of Terry's statement. Terry was acting as administrator for 750 Family Tree DNA projects. These will now all be hosted directly on the FTDNA website, but the pedigree information accumulated over many years will be lost unless new admins can be found to take over.

Wayne Kaufman has kindly compiled a spreadsheet with a list of all the projects available for adoption. You can access the spreadsheet from this link:

If you are interested in taking over one of these projects send an e-mail to Terry at World Families or write to FTDNA.

Ysearch and Mitosearch
Ysearch and Mitosearch were set up by Family Tree DNA as public databases where DNA results could be uploaded from any testing company for comparison purposes. Neither site has been maintained for several years now and it is perhaps no surprise that GDPR has prompted FTDNA to shut both sites. Ysearch was also controversially used to identify suspects in criminal investigations, which on three occasions led to the false incrimination of an innocent person. Here is the text of the e-mail that was sent out to Ysearch and Mitosearch customers:
Dear Valued Ysearch & Mitosearch Members, 
On May 24th, 2018, our free, public genetic-genealogy databases, and, will no longer be accessible as a result of the EU General Data Protection Regulation (GDPR) going into effect on May 25th. 
As the founders of the direct-to-consumer genetic genealogy industry, we did not make this decision lightly. We believe it is necessary given the resources it would take to make both sites GDPR compliant. The current environment regarding DNA privacy as well as recent events in the news, particularly DNA databases being utilized to solve cold cases, were also considerations, but the rigorous requirements of GDPR would have prompted this action irrespective of current events. 
User privacy policies across all of the major consumer genetic-genealogy service providers have become a topic of national conversation, and it is our goal to ensure that our privacy policies continue to meet or exceed industry norms. 
We encourage you to continue your journey of discovery with us on FamilyTreeDNA, and we thank you for your participation in “citizen science” over the years. 
The vast majority of DNA results on Ysearch and Mitosearch were contributed by Family Tree DNA customers. FTDNA now monopolise the Y-DNA and mtDNA testing market and are the only company that provides a matching database for Y-DNA and mtDNA. However, Ysearch and Mitosearch also hosted Y-DNA and mtDNA results from customers of other testing companies that have since ceased operations. Relative Genetics, DNA Heritage and GeneTree closed down many years ago. Ancestry stopped offering Y-DNA and mtDNA tests in 2014. Oxford Ancestors has announced that it will be shutting down this summer. Although Oxford Ancestors have not mentioned GDPR, it is likely to have been a precipitating factor in their decision.

With the closure of Ysearch and Mitosearch the DNA results from these other testing companies will no longer be accessible anywhere for comparison purposes. DNA Heritage was acquired by Family Tree DNA and customers were given the option of transferring the results to FTDNA free of charge. People who tested with a Sorenson Lab (AncestryDNA, GeneTree and the Sorenson Molecular Genealogy Foundation) can take advantage of FTDNA's Y-DNA transfer programme. Customers of other testing companies will need to get re-tested at Family Tree DNA if they wish to receive matches. Unfortunately, many of the results uploaded to Ysearch and Mitosearch will be lost forever because the participant has either passed away or is no longer active.

Preservation of DNA records
We as a genealogy community need to do a better job of preserving our DNA records. If you are interested in helping to find a solution please join the new Facebook group Committee for the Preservation of DNA Records.

Update 27th July 2019
There is now a new public Y-DNA and mtDNA database called MitoYDNA which will serve as a replacement for Ysearch and Mitosearch. For details see this blog post from Mags Gaulden, one of the founders of MitoYDNA.

Further reading

Monday 30 April 2018

GEDmatch, Ysearch and the Golden State Killer

This is a rough and ready compilation of useful links in the Golden State Killer case which I am updating and re-organising on a regular basis as further information becomes available. Suggestions for additional links are welcome.
The coastline of the Golden State of California taken from a viewpoint near Bixby Bridge in June 2017.
There have been a lot of debates in the various genetic genealogy Facebook groups in the last few days about the implications for genealogy following the revelation that GEDmatch was used to narrow down the search for suspects in the hunt for a rapist and serial killer in California known as the Golden State Killer.

I've shared my views in this article for MIT Technology Review:

The brave new world of genetic genealogy

See also my short interview with Rosemary Collins of Who Do You Think You Are? Magazine

What are the risks of using DNA websites in criminal investigations?

I've provided below a compilation of the most useful links for further reading.

Articles by and interviews with genealogists

The moral maze of DNA testing by Philip Grass

Genealogy and the golden state killer by Leah Larkin, The DNA Geek

A comparison of GEDmatch and the FBI's CODIS database by Leah Larkin, The DNA Geek

The bull in the DNA china shop by Judy Russell, The Legal Genealogist

Dilemma: was it wrong to catch killer with DNA by Peter Calver, Lost Cousins newsletter

My fourth cousins, the Golden State Killer, and the Fourth Amendment by Laurie Pratt, Three Branch Tree

DNA Security: my thoughts in the wake of the Golden State Killer development by Brianne Kirkpatrick, Watershed DNA

A genealogical tragedy of the commons by Jacqui Stevens

How to find a killer using DNA and genealogy by Kitty Cooper

The Golden State Killer and DNA by Roberta Estes, DNAeXplained

The price of sharing  by Judy Russell, The Legal Genealogist

The secrets in your spit: using genetic genealogy to solve cold cases by Paul Woodbury, LegacyTree Genealogists

Extreme Genes Podcast interview with Paul Woodbury of Legacy Tree Genealogists Paul expresses concerns about the use of GEDmatch in cold cases

Extreme Genes interview with CeCe Moore CeCe explains the methodology she used to identify a suspect in a cold case murder and discusses the ethics of using GEDmatch to solve crimes

Meet the woman investigating cold case murders from her couch Megyn Kelly from USA Today interviews CeCe Moore

Exclusive: the woman behind the scenes who helped capture the Golden State Killer by Matthias Gafni, The Mercury News

She helped cracked the Golden State Killer case. Here's what she's going to do next by Heather Murphy, The New York Times

Articles by academics

The ethics of catching criminals using their family's DNA. Editorial. Nature.

How lucky was the genetic investigation into the Golden State Killer? by Graham Coop and Doc Edge, The Coop Lab.

Is your genome really your own? The public and forensic value of DNA by Nathan Scudder and Denise McNevin, The Conversation

A chat with the geneticist who predicted how the state may have tracked down the Golden State Killer Jon Cohen interviews Yaniv Erlich for Science

Is it ethical to use genealogy data to solve crimes? (£) by Benjamin E. Berkman, Wynter K. Miller and Christine Grady, Annals of Internal Medicine. 

Experts outline ethics issues with use of genealogy to solve crimes by Carolyn Crist, Reuters. A commentary on the above paper by Berkman et al. Reuters Health News.

Genealogy databases and the future of criminal investigation by Natalie Ram, Christi J. Guerrini and
Amy L. McGuire. Science Magazine. See also the interview with Natalie Ram and Amy L McGuire on Science Friday.

Re-identification of genomic data using long range familial searches (preprint) by Yaniv Erlich, Tal Shor, Shai Carmi and Itsik Pe'er. BioRxiv

Perspective: Sociogenetic risks — ancestry DNA testing, third-party identity, and protection of privacy by Thomas May. New England Journal of Medicine

Crowdsourced and crowdfunded: the future of forensic DNA by Nathan Scudder, Australian Journal of Forensic Sciences.

Forensic genealogy: some serious concerns by Denise Syndercombe Court, Forensic Science International Genetics 

The Golden State Killer investigation and the nascent field of forensic genealogy by Chris Phillips, Forensic Science International Genetics

Should police detectives have total access to public genetic databases? by Stephanie Fullerton and Rori Rohlfs, Leapsmag

Newspaper and magazine articles

DNA databases: biology stripped bare by Karlin Lillington, Irish Times

The creepy, dark side of DNA databases by Vera Eidelman of the American Civil Liberties Union writing in The Washington Post

Tentative thoughts on the use of genealogy sites to solve crimes by Orin Kerr, Reason

DNA website had unwitting role in Golden State manhunt by Kirsten Brown, Bloomberg News. Interesting background information on the people behind GEDmatch.

How a tiny website became the police's go-to genealogy database by Sarah Zhang, The Atlantic

DNA detectives are searching for killers in your family tree by Kirsten Brown, Bloomberg

Cold cases heat up as law enforcement uses genetics to solve past crimes by Diana Fine Maron, Scientific American

The unlikely crime-fighter cracking decades old murders. A genealogist? by Justin Jouvenal, Washington Post

Police can now track killers using relatives' DNA - but should they? by Chelsea Whyte, New Scientist

Background on the Golden State Killer case

For further information on the case I suggest reading the following article on NPR.

In hunt for Golden State Killer, investigators uploaded his DNA to genealogy site

Make sure too that you watch the interview with Paul Holes, the investigator involved with this case which is included on the above link.

There is an additional interview with Paul Holes providing further details in a New York Times podcast on 4th May 2018:

This article explains how GEDmatch was used:

Here’s the ‘open-source’ genealogy DNA website that helped crack the Golden State Killer case

The US TV programme ABC 20/20 aired a special edition To Catch A Killer on 4th May on the DeAngelo case:

How DNA from family members helped solve the Golden State Killer case 

In this ABC 20/20 Extra segment CeCe Moore provides an excellent explanation of the methodology used by genetic genealogists in unknown parentage cases. This technique was used in the Golden State Killer case:

How investigators built a genetic genealogy leading to Golden State Killer arrest

The 20/20 Extra segment is also available on Twitter

This article from the Washington Post has a good overview of the genealogical research that was done in this case:

To find alleged Golden State Killer, investigators first found his great-great-great grandparents

This is a good article by Sarah Zhang in The Atlantic covering some of the ethical issues:

How a genealogy website led to the alleged Golden State Killer

Some members of the genetic genealogy community are cited in the New York Times article which also discusses some of the ethical concerns:

The Golden State Killer is tracked through a thicket of DNA, and experts shudder

The search warrant information was released on 1st June 2018. See pages 49 and 50 for the details of how the police obtained surreptitious DNA samples (apparently perfectly legally) from DeAngelo's car door handle and from a tissue taken from his dustbin (trash can):

The public Y-DNA database Ysearch was also used in the Golden State Killer investigation and that search resulted in an innocent person in an Oregon nursing home being ensnared into the investigation. See the report on the Associated Press website:

Serial killer search led to wrong man in 2017

It has since been revealed that the police took out a sub poena to access the customer's account at Family Tree DNA:

A DNA testing company was forced to reveal a customer’s identity for the Golden State Killer case. It turned out to be a false lead

The daughter of the man in the Oregon nursing home has spoken out to say that her father was happy  he was able to help with the investigation:

Daughter says local man whose DNA was tested in Golden State Killer case would do it again

Ysearch has previously been used in two other cases which resulted in the false incrimination of an innocent person.

A New Orleans filmmaker by the name of Michael Usry was falsely implicated in the 1996 murder of Angie Dodge as a result of a weak match found in the then public Sorenson Molecular Genealogy Foundation Y-DNA database. The police were told that a 34/35 Y-STR match indicated that it was "very close to a 100 percent" that the suspect's name was Usry.

New Orleans filmmaker cleared in cold case murder

In reality, even exact matches at 37 markers can indicate shared ancestry dating back for several thousand years. There are also some false positive 37/37 marker matches as a result of convergence.

As a result of this incident the valuable Sorenson Molecular Genealogy Foundation website was shut down by AncestryDNA.

RIP Sorenson - a crushing loss by Roberta Estes

In an investigation into the murder of Sarah Yarborough a Y-DNA match was said to indicate that the suspect's surname was Fuller.

DNA links 1991 killing to Colonial era family

In an awkward coincidence there was a William Fuller who was a colleague of the victim's father. His daughter was the best friend of the victim. In this case no DNA testing was done on the family members but his name was made public and must have led to some unwelcome gossip in his local community. The killer has never been found.

Cops hope Colonial ties reheat cold case
According to the book I'll Be Gone in the Dark by Michelle McNamara's Y-STR database was also used in the search for the Golden State Killer:

AncestryDNA discontinued Y-DNA and mtDNA testing back in June 2014 and closed down their Y-DNA and mtDNA matching databases in September 2014: announcement regarding discontinuation of Y-DNA and mtDNA tests.

UK position
Although these searches took place in America, Professor Denise Syndercombe Court, Professor of Forensic Genetics at Kings College London, has suggested that the same methodology could be deployed in the UK. See the following article in the Daily Mail:

UK police could now start using genealogy DNA databases to catch criminals despite ethical concerns after US police used one to snare the 'Golden State Killer', says top forensics expert

My view is that it is unlikely that such searches would be used in the UK. There are not enough British people in the GEDmatch database to make a search worthwhile. Such searches are also likely be in breach of article 8 of the European Convention on Human Rights. However, I am not a lawyer and we are in uncharted territory so I would not rule out the possibility.

The floodgates have opened
The Golden State Killer case has now opened the floodgates. Parabon has announced a new genetic genealogy service for law enforcement and has already "screened samples for nearly 100 agencies":

Parabon® announces Snapshot® Genetic Genealogy Service for law enforcement

Parabon uses an Illumina CytoSNP-850K chip:

The citizen scientist who finds killers from her couch A profile of CeCe Moore, Parabon's genetic genealogist, by Antonio Regalado and Brian Alexander, MIT Technology Review

Second success for the DNA Project
The DNA Doe Project has announced its second success with the identification of Lyle Stevik:

Dead man found in Washington State, who had ties to N.M., ID'd through DNA

The first success for the Parabon genetic genealogy service
The Parabon genetic genealogy unit led by CeCe Moore has announced its first success with the arrest of a suspect in a 1987 doubler murder

A double murder from 1987 was just solved thanks to the genealogy website used for the Golden State Killer by Peter Aldhous, BuzzFeed News

The recording of the press conference Kiro7 News on Facebook

The coming wave of murders solved by genealogy by Sarah Zhang, The Atlantic

GEDmatch has now been used in seven cases

Genealogists turn to family trees to cousins' DNA and family trees to crack five more cold cases by Heather Murphy, New York Times

Opinion within the genetic genealogy community has been divided. Many people are happy to have their DNA used to solve a crime and put a potential killer behind bars. Others are uncomfortable with the prospect of police intrusion into a genealogy database. It is up to each individual to make their own informed decision.

It is particularly important that if you are uploading kits to GEDmatch on behalf of relatives you make them fully aware of all the possible uses of their data. If you do not have their consent I recommend changing the settings and making their kits research use only so that they are not participating in the matching database. The same applies to kits uploaded to Ysearch.

For information on changing settings at GEDmatch see this article by David Moberly:

Protecting your privacy on GEDmatch

See also my blog post dated 21st May 2018 on updates to the Terms of Service and Privacy Policy at GEDmatch

Wednesday 14 March 2018

Farewell to Oxford Ancestors

Update 11th January 2021
The reprieve was short lived and Oxford Ancestors ceased trading on 31st December 2020. See my blog post Oxford Ancestors have ceased trading.

Update 26th June 2018
Oxford Ancestors have since announced that they will not be closing down. See my blog post Oxford Ancestors is not dead yet.

Oxford Ancestors has announced that they will be closing down. There does not appear to have been any official announcement but the following notice from Bryan Sykes, the founder of the company, appears on the website (see also the screenshot above):
Oxford Ancestors is closing down after 18 years. I have enjoyed those years immensely and it has been a rare privilege to have you send me your DNA from all over the world. We started because I wanted people to be able to share in the excitement of the research being done in university laboratories like my own in Oxford but rarely reaching beyond the halls of academe. That has all changed now and cheap DNA tests are widely available, even if their meaning is sometimes dubious. The popularity of ‘ethnic testing’ is a case in point, where even religious persuasion is given a genetic foundation by some companies. Have they never heard of the outrages of ‘racial purity’ and the eugenics movement or is it just one more business opportunity? 
But I digress. Thank you all for your patronage over the years. I am leaving Oxford this Summer to live abroad and write more books and I did not feel the company could be run well like that. 
In practical terms, all outstanding orders will be fulfilled in accordance with our Terms and Conditions and the databases will operate as usual for a few more months. 
Bryan Sykes MA PhD DSc
Oxford Ancestors was launched in May 2000 and was the first UK company to offer genetic ancestry tests direct to the consumer. Family Tree DNA and Gene Tree launched in the US at around the same time. Of these three founding companies, only Family Tree DNA is now still in business.

Oxford Ancestors initially offered a mitochondrial DNA test and later added a Y-chromosome DNA test along with a Male Match service. Both tests were low resolution  – an HVR1 mtDNA test and a 10-marker Y-STR test. Unlike their competitors, Oxford Ancestors did not upgrade their offerings and did not drop their prices as the technology improved.

The current Oxford Ancestors Matriline test costs £199 but still only covers HVR1 (400 bases of the 16569 bases on the mtDNA genome). Family Tree DNA now offers a full mitochondrial sequence test (sequencing all 16569 bases) for US $199 (£142). If you're lucky and you buy the test in a sale, and at a time when the exchange rate is favourable, it's possible to get a full sequence test at FTDNA for just over £100. A full mtDNA sequence test is also available from YSEQ for US $165 (£118) though without the benefit of a large matching database.

The current Oxford Ancestors Y-clan test covers just 26 markers (Y-STRs) which is still insufficient to distinguish between different surname lineages. Family Tree DNA began offering a 37-marker test in December 2003, a 67-marker test in August 2006 and a 111-marker test in April 2011. YSEQ also offers a range of Y-STR panels. It's now also possible to buy comprehensive Y-chromosome sequencing tests such as the BigY from Family Tree DNA and the Y-Elite from Full Genomes Corporation, though the cost of these tests is still beyond the reach of the average genealogist.

Because of the high prices and the low resolution of the Oxford Ancestors tests, the genealogists who had originally started surname projects at Oxford Ancestors gradually migrated their projects to other companies, and mostly to Family Tree DNA. Today FTDNA have a monopoly on surname projects. There are now 9,950 surname projects at FTDNA representing 559,646 unique surnames.

However, despite the limitations of the tests offered by Oxford Ancestors, the company has earned its rightful place in the history of genetic genealogy. Many of the pioneers of the genetic genealogy community were introduced to DNA testing by Oxford Ancestors. Ann Turner, co-author with Megan Smolenyak of Trace Your Roots With DNA, took an mtDNA test with Oxford Ancestors which inspired her to launch the Genealogy DNA list on Rootsweb, the first ever genetic genealogy mailing list.

The groundbreaking paper by Bryan Sykes and Catherine Irven on Surnames and the Y-chromosome  (Am J Hum Genet 2000 66(4): 1417-1419) inspired a number of pioneering genealogists to start DNA projects for their surname. Chris Pomery was the first person in the UK to set up a surname DNA project outside of academia. He started the Pomeroy DNA Project at Oxford Ancestors in September 2000, later transferring to DNA Heritage and then Family Tree DNA. I first heard about DNA testing for genealogy when I joined the Guild of One-Name Studies at the beginning of 2006. I set up my Cruwys DNA Project at Family Tree DNA after hearing Chris Pomery speak about DNA and surnames at a local family history meeting.

The demise of Oxford Ancestors is a timely reminder that nothing lasts forever. In the time I've been involved in genetic genealogy I've already witnessed the demise of three other British companies  – Family Genetics, DNA Heritage and BritainsDNA.  Many companies in other countries have also folded or been taken over. Although the market is now dominated by a few large companies there is no guarantee that any of them will still be here in ten or twenty years' time. Following the LOCKSS mantra (Lots of Copies Keep Stuff Safe), I always recommend getting your DNA in as many different databases as possible. If you've tested at Family Tree DNA make sure you fill out the beneficiary form. If you've tested elsewhere you can share your log in details with a trusted friend or relative to ensure that your DNA record can continue working for you in the long term. It's also important to make sure that you download copies of your DNA results and your raw data. If you're running a DNA project make sure you have downloaded all the project data to your own computer for backup.

I think it's unlikely that anyone is now running a DNA project at Oxford Ancestors but, if you are, you will want to make sure you download all the available data while you have the chance. If you're a member of the Guild of One-Name Studies you can contact our DNA Advisor, Susan Meates, and she will help you to migrate your project to Family Tree DNA. See the DNA section on the Guild website for Susan's contact details.

Thanks to Andrew Millard for alerting us to the news in the ISOGG Facebook group.