Monday, 24 April 2017

AncestryDNA passes four million milestone and announces sale for DNA Day

AncestryDNA have announced on Twitter that they now have an astonishing four million people in their database. They passed the three million milestone in January so this means that they have sold one million DNA tests in the last three months alone. If sales continue at the current rate there could well be seven million or more people in the database by the end of the year.

If you've not yet tested at AncestryDNA now is your chance as they have today announced a flash two-day sale in the UK and Ireland in celebration of DNA Day. There is a 25% discount on UK kits which brings the price down from £79 to just £59. Return postage is extra and is charged at £20. In Ireland the test is reduced from from €95 to €70.

Visit the UK store here:

Visit the Irish store here:

There are also discounts available on the AncestryDNA test in the US and Canada. There is no discount in Australia but that's probably because 25th April is ANZAC Day and it would be inappropriate to detract from the solemnity of the occasion with a frivolous DNA sale.

If you are a pre-existing AncestryDNA customer the closing date of the sale is given as 2nd May 2017. It is not clear if the closing date of the sale for new customers will be extended as well.

If you test at AncestryDNA and haven't yet tested at Family Tree DNA make sure you take advantage of the free autosomal DNA transfer programme to add your results to FTDNA's Family Finder database. This will give you a different mix of matches and the ability to participate in the various surname and geographical projects. If you pay a small additional fee of US $19 (£15 or €17.50) you will have access to additional tools such as the chromosome browser. Although Family Tree DNA have a smaller autosomal DNA database than AncestryDNA they have been selling their test in the UK since 2010 whereas AncestryDNA only launched in the UK in January 2015. You are therefore likely to find many cousins in the FTDNA database who have not tested at AncestryDNA.

For a comparison of the autosomal DNA testing companies see Tim Janzen's testing comparison chart in the ISOGG Wiki.

Note that if you've tested at AncestryDNA from May 2016 onwards you will get a reduced number of matches when you transfer to Family Tree DNA. This is because AncestryDNA are now using a different chip, and there are fewer markers that are compatible with the chip used by FTDNA. See the blog post from Louise Coakley Should I upgrade my Family Finder transfer for further information.

If you want to take advantage of the full features of both databases then there is much to be said for testing independently at FTDNA. If this is something you want to do make sure you take advantage of FTDNA's DNA Day sale. The Family Finder test is now just £46 ($59).

Thursday, 20 April 2017

A DNA Day sale at Living DNA and the launch of a new German People project

Living DNA have announced a special sale to commemorate DNA Day. Discounted kits are available for a limited period only. There is a £20 discount when ordered from the UK, a $40 discount in the US and a €30 discount in Ireland and other European countries. For details visit the Living DNA website.

For background information on the Living DNA test see my previous articles:
The Living DNA test provides the best biogeographical ancestry analysis for British people, but note the test does not currently offer a cousin-matching service although this feature will be introduced in due course.

Living DNA recently launched an Irish DNA Research Project to improve their reference dataset from Ireland. We learnt at Who Do You Think You Are? Live this year that they now have around 1200 samples from Ireland and are expecting to roll out their Irish update in about eight weeks' time.

Living DNA have now announced a similar initiative to collect samples from Germany. The project is being run in collaboration with CompGen (Verein für Computergenealogie e.V). CompGen is the biggest genealogical society in Germany and has over 3,700 members.

To participate in the project click on one of the following pages on the Living DNA website:
There are further details of the project in the following press release from Living DNA.
Living DNA initiative seeks to identify patterns of DNA within Germany and surrounding regions

An international group of researchers from the UK and Germany today launched a large-scale appeal for people with four locally-born grandparents, to contribute to a long-term DNA project that will map the genetic history of Germany.
One Family - The German People / Eine Familie - Die Deutschen, is a collaborative project by European ancestry firm Living DNA and Germany’s largest genealogy society, Verein für Computergenealogie e.V. (CompGen). Individuals with four grandparents all born within 80 kilometres (50 miles) of each other, are being sought to take part in the project by taking a simple DNA test.

The project’s aim is to map the genetic structure of contemporary Germany and surrounding eastern regions (Silesia, Posen, Pomerania, East and West Prussia), which have been part of Germany prior to WWI, with a special focus on the former eastern provinces (now part of Poland and Russia).

By focusing on people whose grandparents were all born in close proximity, the team aims to build up the most detailed and accurate regional map of Germany’s genetic history – prior to the loss of territory and mass departures from the eastern parts of Germany that occurred as a result of WW2.

One of the biggest challenges the project faces will be identifying people across all regions of interest, some of which now lie outside of contemporary Germany (Silesia.To encourage suitable people to come forward, individuals who fit the criteria will be able to claim a discounted DNA test at only €89 + return postage (RRP €159), which includes lifetime membership to Living DNA.

Qualifying people who have already had their DNA tested, can transfer their results to the project free of charge and receive a complimentary lifetime membership to Living DNA, which means that they will receive updates to their ancestry results as the Living DNA database grows.

David Nicholson, managing director of Living DNA comments:“Within our DNA is the fact that we are all connected. At Living DNA our One Family project aims to map and connect the world’s DNA. Ultimately producing a one family tree of the world.”

Mr Nicholson also adds: “It’s a great honour to work with CompGen on this project, they have a vast understanding of the complex population structures of Germany and surrounding regions and we are all excited to see the results of the project”.

Dr. Tobias Kemper, genetic genealogist working for CompGen, says: “We are thrilled to be working on this project which will show how the history of middle Europe – from the Roman Empire through the middle ages and the early modern period – until now has left traces within German DNA and their regional distribution.

“This project is of the utmost importance for genealogy in Germany, because it will lead to the creation of the first databank containing a large amount of German DNA samples. DNA genealogy, which has already established itself in many other countries, through the special link between historical research and natural science, will finally also be available in Germany on a large scale.”

Susanne Nicola, chair of the Verein für Computergenealogie e. V. adds: “We’re very pleased the society will be able use its expertise to make a sizeable contribution to a publicly available mapping of the genetic structure of “Germany”.

The DNA research team, under the leadership of Living DNA, made a name for itself in 2015 through its work on a similar landmark study entitled “The People of the British Isles”. This study, which was published in Nature magazine, was the first to map the genetic history of Great Britain and Northern Ireland in high detail. Key members of CompGen under leadership of German genetic genealogist Dr. Tobias Kemper, are also closely involved in the project to ensure it is as academically robust as possible.

The DNA Day sale at Family Tree DNA

Family Tree DNA have announced that they will be holding a sale to celebrate DNA Day. The sale starts today and will end at 11:59 pm Houston time on 27th April.  Here are the sale prices as advised to group administrators.

If you've not ordered a Family Finder test or wish to test other family members now is a really good time to do so. The price works out at £46 or 55 Euros at current exchange rates. Postage will be charged extra and costs $12.95 worldwide. In the US return postage is included in the price.

There are also particularly good deals on the BigY test and the SNP Packs. The BigY is £331 or 395 Euros, and the SNP packs are £70 or 83 Euros which I believe are the lowest ever prices. If you wish to order a BigY or SNP pack test make sure you check first with your haplogroup project administrator to ensure that you're ordering the right test for your situation.

Note that Y-DNA and mtDNA upgrades are not included. You will receive the reduced price if you add a product to an existing kit, but going from Y-37 to 67 or mtPlus to mtFull Sequence (FMS) will not be discounted this time.

Any orders placed through the invoice system must be paid by the end of the sale period.

Happy DNA Day!

Monday, 10 April 2017

23andMe passes two million milestone and gets FDA approval to offer health reports to US customers

While I was away last week in Birmingham at Who Do You Think You Are? Live it was announced that 23andMe have now obtained approval from the Food and Drug Administration (FDA) to offer genetic health reports on ten medical conditions, including Alzheimer's and Parkinson's, to their customers in the US. This is a landmark decision and clears the way for 23andMe to submit further applications in the future for additional reports. The approval will now put 23andMe in a very strong position as they are the only company who can say that their reports are approved by the FDA.

The new FDA reports will only be made available to 23andMe customers in the US, all of whom have now been migrated to the new 23andMe platform. 23andMe reintroduced their health reports in the UK back in 2014 but they haven’t updated any of the literature on most of these reports since about 2011 so they are now very out of date. 23andMe's customers in the UK, Canada and a few other countries are still in limbo on the old 23andMe platform. No announcement has been made about the availability of the reports in other countries. I assume that we will not be able to benefit from the updated reports until we have been migrated to the new website. There are rumours that we will be transitioned by the end of June, but it remains to be seen if this will happen.

It is also worth noting that there are still many health reports available to UK customers that have yet to be approved by the FDA in the US. One example is the report on the BRCA markers associated with hereditary breast and ovarian cancer. As this test is potentially diagnostic I understand it will have to go through a separate approval process.

There is no mention of 23andMe re-introducing the pharmacogenetic reports in the US. In a recent preprint Lu, Lewis and Traylor (2017) expressed concerns about the out-of-date pharmacogenetic reports that 23andMe are providing to their UK customers. The authors say:
Better mechanisms should be in place to ensure that tests reflect the latest science, to ensure tests do not become outdated. Pharmacogenetic research can move quickly – and producing out-of-date reports raises ethical questions since reports may be invalid based on updated research results.
It seems unlikely that 23andMe would be in a position to update these reports until they have approval from the FDA so I hope that they will eventually get clearance for these too.

Anne Wojcicki, the co-founder and CEO of 23andMe, was interviewed by Bloomberg on Friday and provided some interesting insights into the approval process and the company's future plans. She also revealed that the company now have over two million people in their database. 23andMe were reported to have 1.2 million customers in March 2016 which means that they have sold around 800,000 tests in the last 12 months or so.

Update 17th April 2017
The full text of the letter received by 23andMe from the FDA can be seen here. The official press release from the FDA can be seen here.

Update 22nd April
Note that US customers who tested prior to 23rd November 2013 will not have access to the new reports. See the article in the 23andMe help centre Am I eligible to receive the new Genetic Health Risk reports?

Further reading
I've provided links below to some of the most useful articles and blog posts about the FDA's approval of the 23andMe health reports:

Thursday, 30 March 2017

DNA delights at Who Do You Think You Are? Live 2017

There is just one week to go until Who Do You Think You Are? Live  the largest and most important genealogy event in the UK. I've been going to WDYTYA every year from 2008 onwards, and it's been interesting to see how the show has changed over the years, and especially with the move from London to Birmingham in recent years. DNA has increasingly become an important feature and is very much dominating the lecture schedule this year. Whether you're just starting out or you're already a seasoned genetic genealogy addict there will be plenty of interest in the extensive programme of talks.

Family Tree DNA are once again sponsoring the DNA Workshop. There is another great line-up of speakers with a good mix of genetic genealogists and academics. I've compiled the FTDNA talks into a table below for easy reference. To see the full descriptions and the speaker details check out the Family Tree DNA Theatre Timetable on the WDYTYA website.

The DNA Workshop lectures are offered on a first come first served basis, but to guarantee a seat make sure you get to the theatre early. The three lectures in the DNA Workshop at 1.15 pm each day (highlighted in red below) will be held in SOG Theatre 2. A ticket is required to attend these talks. You can either book tickets in advance online or purchase a ticket on the day from the workshop ticketing area which is just inside the main entrance of the NEC on your left as you go into the building.

Thursday 6th April
9.30 – 5.30pm
Friday 7th April
9.30 – 5.30pm
Saturday 8th April
9.30 – 5.30pm
DNA for beginners
Linda Magellan
Finding your way 
through DNA
Emily Aulicino
The ABCs of DNA:
DNA testing for absolute beginners
Linda Kerr
Katherine Borges
The benefits of being a DNA project administrator
Autosomal DNA demystified
Debbie Kennett
What can autosomal DNA testing do
for your family tree?
Michelle Leonard
The science of admixture percentages
Garrett Hellenthal
University College London
What is SNP testing and how can it enhance a Y-DNA surname or genealogy project?
John Cleary
Recent findings in Ancient Irish DNA
Professor Dan Bradley
Trinity College Dublin

SOG Theatre 2
Discovering Richard III
Turi King
University of Leicester

SOG Theatre 2
The Y-DNA and mtDNA landscape
of Britain and Europe
Professor Mark Jobling
University of Leicester
SOG Theatre 2
Ancient DNA and British genetic history
Professor Mark Thomas
University College London
The strange affair of the Kings Cross baby and other mysteries solved with autosomal DNA
Julia Bell
DNA, emigration
and shipping
Brian Swann

Digging up your ancestors
for DNA?
Andrew Millard
University of Durham
Researching your surname
with Y-DNA
Maurice Gleeson
Y-chromosome SNPs in the historical era: discovering cascading hierarchies of SNPs
Graham Holton
Applying forensic DNA techniques and applications to historical casework
Victoria Moore
Ask the DNA experts
Ask the DNA experts
Ask the DNA experts

In addition to the FTDNA workshop there are also a number of DNA talks in the other theatres. I've provided a list below. For all these talks you will need to book tickets in advance online or purchase a ticket on the day from the workshop ticketing area.

SOG Theatre 1 (Celebrity Theatre)
Thursday 6th April at 11.15
Anna Swayne and Mike Mulligan of AncestryDNA
Introduction to AncestryDNA

Friday 7th April at 11.15 am
Sir Tony Robinson on behalf of Ancestry DNA
"DNA: The passport for your family history journey - How your DNA has travelled the world with your ancestors"

Friday 7th April at 3.15 pm
Lauren Treasure and Anna Swayne from AncestryDNA
What's new to AncestryDNA

Saturday 8th April at 11.15 am
Angie Bush on behalf of AncestryDNA
ProGen - DNA and the Paper Trail: An Essential Combination

Saturday 8th April at 3.15 pm
Dr Adam Rutherford hosted by AncestryDNA
A Brief History of Everyone Who Ever Lived
Adam is the presenter of BBC Radio 4's Inside Science programme. He is a geneticist and also a very entertaining speaker

SOG Theatre 3
Thursday 6th April at 10.15 am
David Nicholson, Alexander Cocker and Martin Blythe from Living DNA
High definition ancestry testing in the UK

Friday 7th April at 11.15 am
Cancer Research UK

Friday 7th April at 3.15 pm
David Nicholson, Alexander Cocker and Martin Blythe from Living DNA

Saturday 8th April at 12.15 pm
David Nicholson, Alexander Cocker and Martin Blythe from Living DNA
There is the usual wide range of exhibitors. For full details see the list on the WDYTYA Live website. Three DNA companies  AncestryDNA, Family Tree DNA and Living DNA  will be in attendance. The companies usually have a special show price so if you were thinking of getting tested this is a good time to pick up a kit. The International Society of Genetic Genealogy (ISOGG) will be on Stand 184 providing free advice on DNA testing. Check out the surname poster on the ISOGG stand to see if your name qualifies for a free Y-DNA test.

The Guild of One-Name Studies will be on Stand 97-99 and will be handing out free surname maps. Many of my fellow Guild members are running DNA projects as part of their one-name studies, and Guild members benefit from being able to order discounted DNA kits all year round. If you want to find out more come along to the Guild stand and have a chat.

This is a particularly busy time of year as we also have a get-together this weekend for the Guild's Annual Conference which is taking place in Southampton. We have some DNA sessions lined up for Friday afternoon. My slides are all prepared and I look forward to catching up with everyone tomorrow.

Tuesday, 28 March 2017

AncestryDNA's new Genetic Communities have arrived

AncestryDNA's long awaited new Genetic Communities feature has finally been rolled out to everyone. I've had access to the Communities for some time as I've been involved in the beta testing programme but there have been a few updates to the presentation of the communities since I last wrote about the feature last week. This is what my AncestryDNA home page now looks like.

There is a link to a short video introducing the Genetic Communities which you can watch below. It makes a pleasant change to have a video which is specifically tailored to the UK market with someone talking in an English accent!

N.B. The above video is for the British and Irish market. There is a different video for the American market which can be found here.

When I click on "View Your Genetic Ancestry" this is what I see.

Th display of the "ethnicity" estimate has changed to clarify that this information relates to your genetic ancestry going back thousands of years, while the Genetic Communities provide an indication of your ancestry in the last couple of hundred years.

I currently have just one Genetic Community which is known as Southern English. This is what I see when I click through to visit my Southern English Community.

For each community there is a storyline where you can learn about the history of your community in the last few hundred years. Below is a close up of the details for my Southern English community from 1825-1850. This was a period when many people emigrated to start a new life in Australia, New Zealand, Canada and the USA. There is a cool map which uses the birthplaces of people in the community to show the emigration patterns.

In addition to the storylines there is another tab where you can view your connections within your community. This is what I see for my Southern English community.

There are 42 people in my community who also appear in my match list and I can now click through and view these matches from the community page. The surnames listed are all familiar English and Welsh surnames though none of these surnames actually appear in my tree. If you click on a surname you are taken to a page which gives you information about the surname and provides distribution maps of the surname in the various censuses. You are also encouraged to search for references to the surname in the Ancestry records.

The Genetic Communities can also be accessed directly from your match list. This is a very handy way of filtering your matches.

Other Genetic Communities
It is also possible to see a list of all the other Genetic Communities available. There are around 300 at the time of the launch with the promise of more to come. Here are the continents currently covered by the Genetic Communities.

There are further regions within each continent. Here is the breakdown of regions in Europe.

Each of those regions is broken down into further regions and sub-regions. There are nine communities for the UK and Ireland, some of which also have sub-regions. Here is the current list:
  • English Newfoundlanders
  • Southern English. This includes three sub-regions: English in the South West Peninsula, English in the South East, and English in East Anglia and Essex
  • Northern English
  • Scots. This includes four sub-regions: Scots in the Highlands and Eastern Nova Scotia, Scots in Northeast and Central Scotland, Scots in the Highlands and Nova Scotia, Scots in Central Scotland, and Northern Ireland
  • English Midlanders and Northerners. This includes three sub-regions: English in the West Midlands and Northwest England, English in Yorkshire and Pennines, and English in the East Midlands
  • The Welsh and English West Midlanders. This includes three sub-regions: North Walians, English in the West Midlands, and South Walians.
  • Ulster Irish. This includes five sub-regions: Irish in Donegal East, Irish in Donegal Southwest, Irish in Ulster East, Irish in the North Midlands, and Irish in Derry and Inishowen
  • Connacht Irish. This includes five sub-regions: Irish in Mayo and Galway, Irish in Galway, Irish in Connemara, Irish in North Connacht, and Irish in Mayo and Sligo,
  • Munster Irish. This includes six sub-regions: Irish in Southern Ireland, Irish in Cork, Irish in West Cork, Irish in Kerry, Irish in West Kerry, and Irish in Limerick and Kerry. 
Although I am in the Southern English community I don't yet show up in any of three sub-communities though I imagine it's only a matter of time before this happens.

It's also very interesting reading through the historical background information about all the other Genetic Communities. We were taught very little about American and Canadian history at school so it's very useful to have a potted overview of emigration to these countries.

If you want to have a full list of all the Genetic Communities Blaine Bettinger has helpfully provided a complete list which you can download as a PDF file from his blog. See his blog post AncestryDNA's Genetic Communities are finally here! for further details.

Most people I know are reporting that they have at least one community though there are some people who don't yet have any.

The science behind the Genetic Communities
The new feature has a sound scientific foundation. AncestryDNA have published a White Paper describing the methodology in more detail.

If you really want to dig more into the science behind the feature it's worth reading the paper Clustering of 770,000 genomes reveals post-colonial population structure of North America published in the peer-reviewed journal Nature Communications. This research provides the proof of concept for the feature. An overview of the paper is provided in the following two blog posts:
This is a very exciting new feature and its value will grow over time as more people get tested. We can expect to see more communities added in the future and increasing regional resolution within the existing communities.

I already know from my genealogical research that most of my ancestry is from Southern England so this feature is not telling me anything I don't already know. However, the Genetic Communities have a very real practical application. One of the big problems for those of us who are not American is that our match list is dominated by Americans. Very few of my American matches have family trees that have identifiable locations in the UK, which makes it an impossible task ever trying to find the genealogical connection. It can be quite soul-destroying clicking through match after match only to find that every single ancestor is in Colonial Virginia or Maryland. The Genetic Communities filter provides me with a readymade list of the 42 people amongst my thousands of matches who actually have identifiable connections with Southern England and with whom I stand a much better chance of finding a genealogical link.

The Genetic Communities will be particularly helpful for people who are researching their Irish ancestry. Irish research is often difficult, and most people struggle to trace their trees back much beyond 1850 or 1800. There is also a huge Irish diaspora who are desperate to trace their roots to a specific region in Ireland. There is already an impressive level of sub-regional resolution within the Irish communities, and this feature could potentially have a big impact on Irish research.

For those who know nothing about their ancestry, such as foundlings, donor-conceived individuals and adoptees, the communities will provide valuable clues to inform their research and will provide them with focused lists of matches to search through.

As DNA testing is going mainstream many people are now testing out of curiosity purely for the admixture percentages. Although some of these people do become interested in genealogy and are encouraged to take out an Ancestry subscription, there are many others who sign in once to look at their results and don't come back. The Genetic Communities are provided free to everyone who tests with Ancestry, and the feature is likely to encourage people to spend more time looking at their results and learning about the history of their community. Hopefully they will also be inspired to contact their matches, find out more about their family tree and become genealogy addicts like the rest of us!

The Genetic Communities will also help to dispel a lot of the misunderstandings about admixture percentages. I find a lot of people take these percentages far too literally and expect the percentages to correspond to their known genealogy. It is now made much clearer that these percentages do not relate to your recent ancestry. The Genetic Communities provide a much more accurate picture of an individual's recent ancestral origins and will help to allay some of the misconceptions about the "ethnicity" estimates.

Kudos to AncestryDNA for providing us with such an exciting and innovative tool.

What Genetic Communities do you have and what do you think of this new feature?

Update: Following my comments about the presence of a Yorkshire region in a community for the Midlands, the name of this community has now been changed from "English Midlanders" to "English Midlanders and Northerners". I have updated my article accordingly.

Further reading

Saturday, 25 March 2017

The updated mtDNA tree at Family Tree DNA and an upgrade sale

Family Tree DNA have finally updated the mitochondrial DNA haplogroup assignments for all their customers to Build 17, the latest version of the mtDNA tree. The mtDNA tree is documented by scientists on the Phylotree website. Build 17 of the mtDNA was introduced in February 2016, but until this week FTDNA were using Build 14, which dates back to April 2012, so this update is long overdue. Here is what FTDNA have said about the upgrade in an e-mail to group administrators:
You or your members may have received an email about the update of the mitochondrial DNA database from Build 14 to Build 17, which is the most recent phylogenetic build for mtDNA. This update has been in the works for several months while the scientific team tested and verified the programming and results. We were able to release it this week, so some of you may have seen a change to your mtDNA haplogroup. 
To give you an idea of the scope of this project, Build 14 was based on the analysis of 8,216 modern mitogenomes, while Build 17 was designed using 24,275 mtDNA sequences - almost three times as much information! Build 17 increased to 5437 nodes from 3550 in Build 14, an increase of 1887 haplogroups. Obviously, the update provides a much finer resolution in terms of haplogroup assignment. 
In a very few cases haplogroups may have reverted to a higher branch on the tree. Usually, this is because in Build 14, some of the branches of the tree were predicted, not confirmed. The additional sequences added between Build 14 and Build 17 did not provide supporting data to justify their existence, so these branches have been removed.
What this means in practice is that some people who have taken a full mitochondrial sequence (FMS) test with Family Tree DNA will now find that they have extra letters and numbers in their haplogroup name reflecting the latest discoveries in mtDNA research. For example if you were previously a U4a1a you might learn that you are now either a U4a1a1, a U4a1a2 or a U4a1a3. This is because, as more and more full sequences have become available, it is possible to identify new subclades or branches on the tree.

You can see an updated list of the mtDNA haplogroup-defining mutations on the FTDNA website. Not all subclades have been updated this time but it is always possible your subclade could be refined the next time the tree is updated.

To see where you belong on the mtDNA tree go to the Phylotree website and navigate to your branch of the tree. In the screenshot from Phylotree below you can see the three new daughter clades of U4a1a. Next to the subclade names there is a list of the mutations that define these subclades. The letter and number codes on the far right represent the GenBank IDs of the sequences that were used to define these new subclades.

For a sequence to be used to build the tree it has to be published in the GenBank database. Sequences appearing in scientific papers are uploaded to GenBank on publication. In addition, many Family Tree DNA customers have uploaded their sequences to GenBank so that they can contribute their results to science. If your sequence is used to identify a new subclade you might have the honour of having your sequence listed as one of the two references for that subclade. You might even find that your sequence gets used in a scientific paper! My own personal mtDNA sequence has already appeared in two scientific papers to date.

If you are interested in uploading your mtDNA sequence to GenBank you can find further information on the ISOGG Wiki page on GenBank

It's important to remember that you will share your mtDNA sequence with your siblings, your mother, and any cousins who descend in an all-female line from your matrilineal ancestors. There are 37 genes in the mtDNA molecule and in some cases people will have mutations that have medical significance so any mutation that potentially affects you will also affect your other matrilineal relatives. It's very rare to find such mutations but it's always a good idea to get your sequence checked out before sharing it publicly. If you are technically minded you can look up your own mutations on Mitomap. Alternatively you can order a custom mtDNA report from Dr Ann Turner for a small and very reasonable fee. I ordered a report for myself and I can highly recommend this service. 

If you want to find out more about your haplogroup have a look at Rebekah Canada's wonderful Encyclopedia of mtDNA Origins. If you type in the name of your subclade you can pull up a list of all the sequences in your subclade on GenBank and in the Genographic Project database together with a list of relevant publications from the scientific literature, and an estimate of the age of your subclade.

There are some cases where the haplogroup names have not yet been updated. We have a few examples in the mtDNA Haplogroup U4 Project. These have occurred where the subclade-defining mutation is an insertion or deletion. An example of an insertion is 965.2C. This means that, in comparison to the reference sequence, the person has two extra Cs at position 965. An example of a deletion is 301-  or T310d. The way the deletion is reported depends on which reference sequence is being used  – the revised Cambridge Reference Sequence or the Reconstructed Sapiens Reference Sequence. What this deletion means is that there is a letter T in the reference sequence but this letter T is not present in the person who has tested. The FTDNA algorithms currently seem to be unable to handle these insertions and deletions but hopefully this will be sorted out in due course.

In the meantime if you want to check your own haplogroup assignment you can use James Lick's mtHap tool, which is equipped to handle insertions and deletions. It's also a good idea to join the relevant mtDNA Haplogroup Project. Some of the volunteer haplogroup project admins will be able to check the haplogroup assignment for you.

FMS upgrade sale
To coincide with the update to the mtDNA tree FTDNA have announced an upgrade sale. For the next week only you can upgrade to the full sequence from HVR1 or HVR1+HVR2 for just $99. You will only get the detailed haplogroup assignment with the full sequence test. The FMS upgrade is particularly useful if you have a lot of matches at the lower testing levels. mtDNA can also be used at FTDNA in combination with autosomal DNA testing to rule matches in or out on the matriline. Remember too that FTDNA is the only company where you can use your mtDNA results for genealogical matching purposes.They have the world's largest database of full mitochondrial sequences. As of today's date there are 99,847 FMS records in their database. It's only a matter of time before the 100,000 milestone is reached.

Monday, 20 March 2017

AncestryDNA updates and the forthcoming new Genetic Communities feature

It was announced at Rootstech back in February that AncestryDNA are planning to launch a new Genetic Communities feature. See this blog post from the Ancestry Insider for details. I received a St Patrick's Day e-mail from AncestryDNA and it seems that the Communities feature is due to be launched at the end of March. The launch is conveniently timed to coincide with Who Do You Think You Are? Live which takes place in early April. Not all Ancestry customers have received the marketing e-mail and it seems to have been aimed at people in the UK and Ireland. According to the e-mail the "new Genetic Communities feature will map where your family may have lived across 19 different Irish areas, from Derry to Cork. But you're probably not 100% Irish - so we'll also identify the communities that you belong to around Britain and the rest of the world."  The e-mail includes a link to this landing page  which has a few additional details. .

I've been included in the beta-testing program for the new Communities feature but the version I currently I have on my account is not necessarily the finished product so I will report on this feature after the official launch. At present I'm in one community for Southern England but I suspect that there will be further refinements in due course.

In the meantime you can get a glimpse of some of the Irish Genetic Communities on Mike Mulligan's Ancestry Special, a special edition of the Irish TV programme The Late Late Show. The four guests, Maura Derrane, Eamon Dunphy, Jason Byrne and Michael Healy-Rae, were given their DNA results live on air by Mike Mulligan from AncestryDNA. The programme is available on the RTE Player until Sunday 17th April.

AncestryDNA have now published a Genetic Communities White Paper explaining the science behind the new feature, which is well worth a read. The AncestryDNA team have done a superb job explaining some quite complicated concepts in an easily understandable way.

If you want to learn more about the underlying research which led to the development of the Genetic Communities you can read the scientific paper Clustering of 770,000 genomes reveals post-colonial population structure of North America Nature Communications published in Nature Communications in February. The paper includes a 126-page Supplementary Discussion document which is an interesting read in its own right and includes lots of maps and some fascinating background information on migration patterns. If a lengthy scientific paper is not to your liking, Leah Larkin has written a handy blog post providing a useful summary of the paper.

It's interesting to note that AncestryDNA have filed a series of patents to protect their rights in this research.

AncestryDNA now also seem to be encouraging their customers to participate in research. This banner has just appeared on my Ancestry account.

When I click through I am taken to this page which encourages me to increase my level of participation in Ancestry research.

There is a new Informed Consent form for the Ancestry Human Diversity Project which was updated on 8th February 2017.

There is also what appears to be a new page on the Ancestry Privacy Principles, which serves as a gateway to all the privacy-related topics on the website. I was particularly interested to see this new page on AncestryDNA Research and Collaboration.

It is an individual decision whether or not to participate in research but whatever you decide make sure you read through all the forms in their entirety before making your decision.

See also the blog post from Judy Russell Update in AncestryDNA research consent.