Your Genetic Genealogist

The First Ever Independent Genetic Genealogy Conference was a Smashing Success!

2013-06-14T01:01:00.000-07:00

It has been a week now since our history-making SCGS/ISOGG Genetic Genealogy Conference in Burbank. It was a smashing success in every way. I wanted to take a moment to thank all of the speakers who generously came, often from all the way across the country, to share their knowledge and expertise with us. I was thrilled and honored by the enthusiastic response from all of the speakers to my invitations to participate.

Professor Henry Louis Gates, Jr. and Dr. Spencer Wells were our headliner speakers and they definitely lived up to their reputations (and more). We would have been extremely lucky to have even one of them attend. For me, having both accept my invitation to speak was nothing short of incredible!

Dr. Wells of National Geographic did a wonderful job encouraging all of us citizen scientists and recognizing our efforts. I had seen him speak before and always love how he makes the science so interesting and approachable, even for the beginners in the audience. Dr. Wells spent the day at the conference, attending presentations and interacting with the community. He even joined us for dinner and socialized with a group of genetic genealogists late into the night. He is definitely one of us!

The packed house for Spencer Wells' wonderful opening presentation

Professor Gates spoke at our luncheon and he was absolutely hilarious! I had no idea he would have us rolling in the aisles with laughter the way he did. If he ever decides that he wants a new career, stand-up comedy should be first on his list! He regaled us with tales of his own family history and his early ventures into television. The Professor was a fitting participant in our history-making day since his PBS shows were the first to introduce genetic genealogy into American homes. He also stuck around most of the day, attending presentations and socializing with the attendees. (I have to tell you that giving a presentation while looking out on the audience of Dr. Wells, Professor Gates, Dr. Mountain and many of my colleagues was quite intimidating!)

Professor Gates entertaining us

With these two celebrities, it might seem easy to forget our other speakers, except that they were all so outstanding in their own right! We had wonderful representation from the companies that our community depends on - Bennett Greenspan from Family Tree DNA, Dr. Joanna Mountain from 23andMe and Dr. Ken Chahine from AncestryDNA all gave presentations packed full of valuable information for genetic genealogists. Their speeches were standing room only. This was a very important part of the event to me. From the beginning of the planning process, one of my goals for the conference was to gather management from all of these companies in one place with the common purpose of promoting the education of the community. This was the very first time that this has happened and it will not be the last time.

Dr. Mountain explaining the finer points

Many of our leading genetic genealogists also generously gave of their time to ensure that our first conference would be a success. The informative presentations from Dr. Tim Janzen, Blaine Bettinger, Judy Russell, Dick Hill, Debbie Parker-Wayne, Alice Fairhurst, David Reynolds, Emily Aulicino and Katherine Borges were essential to this groundbreaking event. Many of these presentations were livestreamed and/or recorded so more people could benefit from these outstanding speeches. Dr. Kathy Johnston and Bonny Cook were also integral to the event and helped it to run as smoothly as it did. Additionally, all of the roundtable discussion leaders and the general volunteer efforts were very much appreciated by us all.

Blaine Bettinger sharing his knowledge

We had a total of 352 attendees, including speakers, which is a very good turnout for the first conference of this kind in the history of our field. We even had attendees from China, Australia and the UK, making this an international event! Thank you all for the tremendous support! The success of this inaugural event ensures that we can hold similar conferences in the future. This has proven that the time had indeed come for genetic genealogy to have its own annual conference. Thanks to SCGS for giving us this trial run, Paula Hinkel for her expertise in conference planning, which ensured a perfectly executed day, and Vicki Hilb for taking such good care of the speakers.

Next year we plan to hold the event on the East Coast, so those who could not make the long trip this year can participate in our second annual conference. I hope to again entice our wonderful Dr. Wells and Professor Gates to join us (they say they will!). We intend to hold a two day event next time in order to allow attendees to see more of the speakers and presentations. I will update everyone once we have dates and a location nailed down. I hope it will be as much fun as this one was!

Unfortunately, I didn't get pictures of everyone since it was such a whirlwind day, but thanks to Tim Janzen, I have quite a few to share with you all. (His are the clear ones. :-))

CeCe and Professor Gates

Tim Janzen Presenting

Dick Hill telling his tale...

The Gates Luncheon

Confirming My Pedigree with DNA


What the Livestreaming looked like from our end

Does DNA Testing Work?

Socializing was fun with Blaine...

...and Debbie Parker-Wayne (with Cyndi Howells of "Cyndi's List" in the background)

I couldn't have asked for a better group of people with whom to share the day! There were so many familiar faces and friendly people that it was impossible to have the time to speak to everyone I wanted to. It was wonderful to be among people who share the same passion for genetic genealogy. Thank you to everyone who made the event so successful. It really was a dream come true!

Update: I received some great new photos from Katherine Borges which I have added, two below and one above in the section about Dr. Well's speech.

Adam, Spencer Wells, me, Lennart, Leo and Alice's infamous gold hat

At the Jamboree ISOGG booth, Back Row: Emily, Bonny, me, Kathy
Front Row: Linda and Katherine

A Sneak Peek at the UPDATED AncestryDNA Search Filter

2013-06-13T02:32:00.001-07:00

AncestryDNA has been hard at work perfecting the new search filter these last few weeks. Not surprisingly, it has undergone some changes since I last shared it with my readers.

Stephen Baloglu, Ancestry.com's Director of Product Marketing, described what appears to be the version that will go live in the next few weeks:

The search includes looking within your DNA matches for surnames and birth locations in their family tree that they have linked to their DNA results. It does not currently include searching for username, but we may update that in the future. The top request was surnames/birth locations, so we started there. Also, we expect people to more likely know surnames they're looking for much more often than ancestry username.

He also shared these screen shots and accompanying descriptions with me on June 6th. Click to enlarge them for a closer look.

In a YouTube video on Ancestry.com's account (dated June 3, 2013), this slide is shown describing the AncestryDNA search filters.

Notice that the username search was, apparently, still expected at that time. Ancestry.com employees Anna Swayne and Crista Cowan discuss it on the video from about 15:30 to 16:00. Crista clarifies that the username filter will be "an ability to search by the name of somebody who is a DNA match" and Anna says that it "will be coming soon". However when I asked Ken Chahine, General Manager of AncestryDNA, about the username filter at the recent DNA conference on June 6th, he explained that Ancestry.com does not currently have the option to search by username built into their system, which is limiting AncestryDNA's ability to provide it. [Update: I have asked for clarification on this point.]

Although this additional filter would be convenient, in my opinion, it isn't essential. For example, I would like to search my mother's account to determine which of my matches with a surname of interest also appear in her account, but I can do so almost as easily by searching on that surname. Further, to search your account to see if your research partners appear as matches, you can also filter by your shared surname(s). I would really like to see an "In Common With" filter to determine which of my matches are from my mother's side, but, fortunately, I can already use Jeff Snavely's tool for that purpose.

With these upcoming filters, Jeff's terrific tool and Family Tree DNA's recent announcement that they are accepting raw data uploads from AncestryDNA (for only $49!), this test is becoming much more useful for genetic genealogists. (Now, if only we could get that chromosome browser onsite!)

Stephen tells me that there still isn't a confirmed date for the new search filter's arrival, but I expect it to appear sometime this summer.

Family Tree DNA Promotions Galore - Father's Day Y-DNA Upgrade Sale, AncestryDNA Transfers, mtDNA and DNA storage!

2013-06-12T16:54:00.000-07:00

I am behind in blogging, in part, due to the Genetic Genealogy Conference that was just held last week (which I co-chaired), so I am going to be posting a few articles in quick succession. I hope it is not too much mail compared to what my subscribers are used to receiving!

First, Family Tree DNA has announced a number of wonderful promotions and price drops recently which are of great interest to our community. Two of these are very important promotions that will help us all get greater benefit from DNA tests that we have already taken, while the third is a great way to learn more about the deep ancestry of our direct maternal lines and to get out relatives DNA into storage for the future.

Father's Day Y-DNA Upgrade Sale
From June 12th-19th, FTDNA is reducing the price of Y-DNA upgrades, so if you took advantage of the recent price drop on Y-DNA 12 or if you need to clarify your current matches, now is the time to get that much needed resolution to your results.

Y-DNA 12 to 25        was $49             Now $35
Y-DNA 12 to 37        was $99             Now $69
Y-DNA 12 to 67        was $189           Now $148
Y-DNA 25 to 37        was $49             Now $35
Y-DNA 25 to 67        was $148           Now $114
Y-DNA 25 to 111      was $249           Now $224
Y-DNA 37 to 67        was $99             Now $79
Y-DNA 37 to 111       was $220          Now $188
Y-DNA 67 to 111       was $129          Now $109

To order an upgrade at these special prices your members can log into their personal pages with their kit number and password. Click on the "Order Upgrade" button located on the right side of the menu bar. Then click on the "Special Offers" button.

ALL ORDERS MUST BE PLACED AND PAID FOR BY 11:59pm, JUNE 19, 2013, TO RECEIVE THE SALE PRICE. You can order here by logging into your account.

Family Tree DNA Accepting AncestryDNA Transfers for only $49!
The other terrific news that was announced at the conference last week is that Family Tree DNA is now accepting AncestryDNA raw data file imports in addition to the 23andMe raw data imports, both for only $49 (for a limited time).

The test is offered toward the bottom of their products list under "Autosomal DNA Transfer". The explanation on the site is as follows:

This option is available for men and women who have autosomal DNA results from a third party company that used the Illumina OmniExpress Plus Genotyping BeadChip, such as 23andMe© (known as the Relative Finder) and AncestryDNA™. You may use this option to upload your raw data to the Family Tree DNA Family Finder database to take advantage of features associated with the Family Finder product, such as relative matches and the Population Finder. This data transfer does not include any Y-DNA or mtDNA results from any company, nor does it involve the transfer of any physical DNA sample.

The $49 Introductory fee will provide you with a Family Tree DNA personal page which will allow you to:

View matches related within about the last 5 generations and predicted relationship ranges.*
See percentages of your ancestral make-up from 62 world reference populations such as Native-American, Middle Eastern (including Jewish), African, West and East European.
Confirm close relationships regardless of gender.
Generate additional genealogical information..

Please note, uploaded files are batched once a week then run through the conversion program. Results take between 6-10 weeks based on volume. You will be notified by e-mail when your results are available.

You can order here. Click on "Products" from the menu across the top and then scroll down to "Third Party >> "Autosomal DNA Transfer" (near the bottom).

mtDNAPlus (and DNA storage) for only $49
About a month ago, Family Tree DNA announced that they had reduced their mtDNAPlus (HVR1&2) test to only $49. This was the middle level test, so this is an incredible deal! Even if an mtDNA test is not your first choice for your genealogy research, this is a terrific way to get anyone's DNA in storage for at least 25 years for a very low price. You might wonder why this is important. With all of the new technology that will be developed in the future, we will all wish that we had our elderly relatives' DNA to test. If you go this route, be sure that the beneficiary field is filled out, so you can access the DNA in the future for additional testing if that person is no longer with us.

Here is the official press release about this development:

HOUSTON, May 9, 2013 /PRNewswire/ -- Family Tree DNA, the genetic genealogy arm of Gene By Gene, Ltd., has lowered the price of its mid-level maternal line mtDNA test to $49, effective immediately. The company announced it will offer its mtDNAPlus product at a two-third price reduction permanently, in just its latest step toward universal access by individuals to their personal genetic data.
"This groundbreaking pricing illustrates how next generation sequencing (NGS) is changing the DNA testing landscape," Gene By Gene President Bennett Greenspan said. "For Family Tree DNA to be able to offer this test at such an affordable price would have been unheard of before NGS. We're hopeful that by lowering the price of products like our mtDNAPlus, we'll be able to expand the horizon of DNA testing and, importantly, grow our database to fuel future genetic discoveries."
Earlier this year, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- dropped the price of its basic Y-DNA test for males by 60 percent, in order to eliminate cost as a barrier to individuals interested in learning more about their personal genetic and genomic data.
Since then, the company has been working to do the same with its mtDNA test, which is applicable to both males and females and provides data on the direct maternal line by testing the mitochondria. The mtDNAPlus product tests Hypervariable Regions 1 and 2, or HVR1 and HVR2, providing individuals with both anthropological and genealogical information.
With the largest DNA database in the world, Family Tree DNA has processed over 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000. Data gathered from the mtDNAPlus test will be stored, free of charge, in the company's database. If customers are interested in performing any other DNA tests that the company offers in the future, they won't be required to resubmit DNA samples.

Customer Inquiries
Individuals interested in Family Tree DNA's $49 mtDNA test, or any of its ancestral testing products, can visit Family Tree DNA or call (713) 868-1438 for more information.

What this means for us...
As a result of these promotions and price drops, we will all benefit from quickly expanding databases and more/better resolution matches. For those who transfer their data in from AncestryDNA, they will have access to the essential chromosome browser data and we will finally be able to see where our cousins from AncestryDNA match us!

Sneak Peek of AncestryDNA's New Search Filter

2013-05-22T02:16:00.003-07:00

The long-awaited search filter at AncestryDNA has been teasing customers for the last couple of days, with fleeting appearances reported Sunday through Tuesday. It appears that the lucky ones who were granted this exciting sneak preview were primarily those who were using Internet Explorer. A few people also reported brief sightings in Chrome. These customers were fervently testing out the new feature's capabilities, never sure when it might disappear and then reappear again unexpectedly. This left a lot of people scratching their heads and trying to figure out what was going on.

AncestryDNA's new search filter, click to enlarge

The new search boxes appear just below the "filter by" drop down menu and the relationship range bar (as seen above). The filter enables searching for a specific surname or birth location. Further, a surname search can be narrowed down by additionally entering a location. There is also an option to "include similar surnames" which is helpful for those of us who have ancestral surnames with variant spellings.

The DNA matches that contain your search term(s) in their family trees are returned. However, the feature does not go so far as to identify specifically where these targeted terms appear, so is still necessary to open each match to review the family trees and locate the desired information. Reportedly, searches include collateral lines, private trees(!) and family trees in accounts that do not have a tree linked to their DNA results. I hope this continues to be the case in the final version, but I would be a bit surprised if these capabilities are preserved in entirety. By the way, apparently it does not currently search matches that were moved to the trash, so you better pull those back out!

I asked Stephen Baloglu, Ancestry.com's Director of Product Marketing, for clarification in regard to exactly what has been going on with this feature the last couple of days, as well as the time frame for a full roll-out. He explained, "We had been doing some isolated early release testing of the new ability to search matches by surname and birth location. It's very exciting, but the development is not complete. We put it in the wild for a small, random portion of AncestryDNA customers to get a sense of how it is working. We expect to roll out the feature in late June/early July to all DNA customers along with a few modifications to what has already been seen."

So, there you have it. The mystery is solved. The rest of us will just have to try to be patient!

Last Chance for Early Bird Pricing for June 6th "Family History and DNA:Genetic Genealogy in 2013" Conference

2013-05-06T21:03:00.000-07:00

Tomorrow, May 7th, is the last day for early bird pricing for the genetic genealogy conference to be held on June 6th in Burbank, CA. We have a truly outstanding program planned for this first-ever independently produced genetic genealogy conference (co-sponsored by the International Society of Genetic Genealogy and the Southern California Genealogical Society). I hope you will decide to join us if you haven't already signed up. Attendance is limited to 350 and we are more than 75% sold-out, so don't wait too long!

The details:

Family History and DNA: Genetic Genealogy in 2013

June 6, 2013 – 8:00 a.m. to 6:00 p.m.

Los Angeles Marriott Burbank Airport

2500 Hollywood Way

Burbank, CA 91505

Speakers and Topics:

We will have Dr. Spencer Wells as our keynote speaker and Dr. Henry Louis Gates, Jr. as our luncheon speaker. The rest of the day will feature three concurrent tracks, aimed at the beginner through advanced genetic genealogist. All presenters and topics are found on the Jamboree website on the DNA Day page.

Cost:

Through Tuesday, May 7, 2013 (Extended Early Bird Deadline)

SCGS Members: $175

Non-Members $195

May 8 through Friday, May 24

SCGS Members: $200

Non-Members $220

Henry Louis Gates Luncheon (extra payment required)

Attendee: $20

Guest accompanying attendee: $60

Reservations can be made online at here. Payments may also be made by phone at 818.843.7247 (closed Mondays) with Visa or MasterCard.

--------

The 44^th Annual Southern California Genealogy Jamboree will follow Friday through Sunday, June 7-9. DNA sessions will be held during Jamboree as well, including an expert’s panel on Friday afternoon. I will be participating in that panel as well as the Blogger's Summit panel on Saturday before lunch and speaking about Adoption and DNA on Saturday afternoon. I hope to see you there!

Happy DNA Day! (Celebrate with FTDNA's sale or 23andMe's multi-kit discount!)

2013-04-25T17:17:00.000-07:00

Happy DNA Day to all of my friends!

WHAT IS DNA DAY?
Today is DNA Day! First observed ten years ago, DNA Day now celebrates all things genetic. It commemorates the day sixty years ago when the journal Nature published the papers by Watson, Crick, Wilkins, Gosling and Franklin describing the double helix structure of DNA and, according to the National Human Genome Research Institute, DNA Day also "commemorates the completion of the Human Genome Project in April 2003".

THERE'S LOTS OF INTEREST IN GENETICS OUT THERE!
This year, in honor of DNA Day, 23andMe commissioned a survey of 1,067 Americans to find out just how much people in the United States know about genetics. Not surprisingly, it revealed the need for increased education, with only 21% of those surveyed correctly understanding that humans have 23 pairs of chromosomes. One of the most significant things that they found is that, while only 2% of the people surveyed had taken a genetics test, 73% of those who haven't would like to get tested in the future. Further, according to 23andMe, 71% of those said that the health results are what most interests them. (I guess we shouldn't be surprised by 23andMe's primary focus.) Even if they aren't all genetic genealogy enthusiasts, this is very good news for those of us who are. It appears that we can look forward to the databases growing exponentially in the coming months and years.

SALES
Although 23andMe is not offering a special discount for today, I did want to point out to anyone who hadn't yet noticed that 23andMe is now offering a multi-kit discount. The first kit is the regular price of $99, but any additional kits ordered at the same time are 20% off (that's only $79.20!). The discount is automatically applied when you add the kits to your cart.

Don't forget that Family Tree DNA's extensive DNA Day sale was extended through ~~tonight~~ April 30th.

It's a very good day to order a kit and add to what you know about (your) DNA!

DNA Makes a Splash at RootsTech 2013!

2013-04-24T14:35:00.003-07:00

[I started writing this post right after Rootstech, but never published it. I had thought it was too late, but since lots of blogs are still discussing RootsTech, I decided to go ahead and publish it.]

I already wrote about the DNA announcements made at RootsTech, but DNA was such a hit at this year's RootsTech conference that I think another post is due.

This was my first attendance at RootsTech and I was impressed. The conference had more DNA talks than ever and most were standing room only. I think the organizers may need to give us all bigger rooms next year!

Nathan Murphy of the SLC Family History Library spoke to a full room about the application of Y-DNA for genealogy (Update - I just found Nathan's talk online.). Diahan Southard from The Genetic Genealogy Consultant gave an entertaining presentation on my favorite subject - autosomal DNA. Elise Friedman from Relative Roots and Family Tree DNA gave two talks to packed rooms - one which lasted substantially longer than scheduled due to the enthusiastic questioning from the audience. AncestryDNA hosted a sold-out luncheon program featuring DNA and their product director Kenny Freestone gave a separate presentation on the AncestryDNA product.

My first presentation was on the Geno 2.0 test. My crowd was highly engaged and full of questions.

RootsTech Geno 2.0 Presentation

YGG and the Geno 2.0 Presentation Audience

My second presentation was an "Ask the Experts" genetic genealogy panel. Participants were Bennett Greenspan, CEO of Family Tree DNA; Dr. Catherine Ball, VP of Genomics and Bioinformatices for AncestryDNA and Dr. Tim Janzen, 23andMe Ancestry Ambassador and Independent Researcher. I had prepared questions, but didn't need them since we had such an enthusiastic crowd. Before we got started with questions, I asked the room how many had tested before. I was shocked to see almost every hand in the room go up. Most had tested at all three of the major companies and with multiple types of tests. I was expecting to have a much less advanced crowd, but since panels are inherently flexible, it worked out beautifully. I only wish we had more time since there were many hands raised throughout the entire hour and I don't think everyone got a chance to ask their question.

"Ask the Experts" panel - photo courtesy Lynn Broderick and the Single Leaf

The bottom line is that DNA for genealogy is here to stay. I think Dick Eastman expressed it best in the "Future of Genealogy" panel. When asked what three words best described the future of genealogy, he instead opted to respond with three letters "D.N.A."!

Family Tree DNA's DNA Day Sale Starts Now!

2013-04-18T15:16:00.000-07:00

***UPDATE - THIS SALE HAS BEEN EXTENDED THRU THURSDAY, APRIL 25th***

Just in from Family Tree DNA. (These are really great prices!)

FAMILY TREE DNA ANNOUNCES SPECIAL DNA DAY REDUCED PRICING
••••••••

LOW PRICES ON THESE AND MANY MORE:
Full Mitochondrial Sequence: $189
Family Finder: $169
Y-DNA + Full Sequence: $358

We are pleased to announce our 2013 DNA DAY Promotion. While the special pricing features all the major tests, we’re placing particular emphasis on the Full Mitochondrial Sequence and Family Finder. We’ll offer Y-DNA upgrades during a Father’s Day sale and will give you those details
at that time. By carefully choosing the sale options and limiting the length of the sale, we will be better able to focus our resources on processing the tests efficiently and avoiding delays in delivering results.

We are proud to announce we have successfully moved our mtDNA Full Sequencing line from Sanger DNA sequencing to what is called Next Generation Sequencing (NGS). This gives us much greater capacity to process tests, to reduce costs without sacrificing quality, and to ensure shorter turnaround times. We must run the entire sequence every time we process an mtDNA full sequence test, even for upgrades. However, in recognition of your prior investment- and National DNA Day – we’re offering our lowest price ever for the FMS and upgrades. Rather than the 8-10 weeks first generation sequencing required, we expect results to be completed within 5-6 weeks. This does depend on the number of orders received though. If their DNA is already at our lab, those who order first may expect even shorter turnaround times. For a limited time we will be selling the FMS for $189 and whether you’ve tested HVR1 or HVR1+2, you’ll be able to upgrade to the Full Sequence for just $129!

In addition, we are also lowering the Family Finder to $169 for this sale! Here is the list of all tests under the promotion:

Full MtDNA Sequence…. $189
Upgrades to FMS….$129
Y-DNA37 (new and add-on)…. $119
Y-DNA67 (new and add-on)…. $199
Y-DNA37 + Full MtDNA Sequence…. $308
Y-DNA12 + FF…. $218
Y-DNA37 + FF…. $288
Y-DNA67 + FF…. $368
Family Finder.... $169
Family Finder + Full MtDNA Sequence…. $358
SuperDNA….$388 (Y-67 + FMS)
Comprehensive DNA…. $557 (Y-67 + FMS + FF)

The sale will begin tonight, April 18th, at 6PM CDT and will conclude at 11:59PM CDT on Monday April 22nd. All orders must be placed and paid for by the end of the sale to receive the promotional price. There will be no need for a coupon - all prices will be automatically adjusted on the website. Order here.

THANK YOU FOR YOUR CONTINUED SUPPORT
Bennett Greenspan
President
Family Tree DNA

All orders must be placed and paid for by 11:59PM on Monday April 22nd, to receive the promotional rate. As with all promotions, orders need to be placed by the end of the sale and payment must be made by end of this sale.

Join "Your Genetic Genealogist" at Chula Vista Genealogical Society's Spring Seminar on Saturday, March 30th

2013-03-28T10:06:00.003-07:00

Time is running out and we are nearing capacity! If you are in the the Southern California area, please join us on Saturday for an exciting all day genetic genealogy seminar in Chula Vista. I hope to see you there!

Chula Vista Genealogical Society

Spring Seminar

"Do Your Genes Fit? Discover Your DNA"

Featured Speaker: CeCe More

Do you want to know all about DNA genetic testing and how it can help you learn about your ancestors? On March 30th, 2013, CVGS will present renowned genetic genealogist CeCe Moore for a lively and informative day-long seminar. We'll learn about the various DNA tests available, how to read and understand the results and how they'll apply to researching our family trees. Adoptees are encouraged to attend.

You're encouraged to bring your test results to the seminar so CeCe can help you interpret them.

The seminar will be held at the Chula Vista Golf Course in Bonita from 9am to 3pm on Saturday and includes a catered lunch. The fee is $40. Door prizes include a 23andMe kit and two $30 Family Tree DNA coupons.

Register: http://events.r20.constantcontact.com/register/event?oeidk=a07e6ur0x8w8adfb9a7&llr=ioiduvhab
Or contact Karen Yarger at khy13@hotmail.com 619-426-0834 or Gary Brock at gary@cyber.net 619-475-4054

Where

Chula Vista Golf Course
4475 Bonita Rd.
BONITA, CA 91902

Driving Directions

Family Tree DNA Announcements: New Pricing, New Staff and a Discovery

2013-03-26T14:02:00.000-07:00

Family Tree DNA made two announcements today.

The first shares the news that the Y-DNA12 test will be permanently offered at $49. The current $39 sale will end on March 31st, so if you want more of these tests order them now. The basic mtDNA test will soon undergo a similar reduction. Family Tree DNA will also be adding new customer service and IT staff to keep up with the growing demand. This is all great news for the genetic genealogy community.

The second was a press release detailing the exciting scientific discovery that was made through a customer from the FTDNA database thanks to the astute project administrator Bonnie Schrack. I wrote about the genealogical implications of this discovery earlier this month here.

The following email was sent to project administrators (bolding mine):

It is with great satisfaction that we announce a permanent price change and other improvements that will positively impact your projects.

Prices:
Due to the recent upgrade of our state-of-the-art laboratory, coupled with research and development into increasing lab efficiency, we are able to permanently offer the basic Y-DNA12 test for $49 beginning April 1, 2013. The current sale of Y12 at $39 will end at 11:59PM CST, March 31, 2013. We are also working on bringing down the price of the basic mtDNA test as well; we hope to have that accomplished during the first half of this year.

We understand that several projects have a minimum requirement of 37 markers for the Y-DNA test, but we’ve learned through the promotion with the lower price point on the Y-DNA12 last month, that it did not reduce the number of orders at the 37-marker level. Therefore, there was a net gain for the database, not only by increasing the number of members, but also increasing the number of potential upgrades to higher levels.

We hope that you can encourage family and friends who saw the price as a barrier to now come on board. It is our goal to ensure every single person is able to have the "DNA experience," at least at the basic level. We are working on a letter that you can send to family and friends to invite them to take advantage of the new pricing.

Customer Service:
Family Tree DNA is the only company exclusively dedicated to genetic genealogy and anthropology. We offer the widest range of tests, from the basic ones mentioned above to specific SNPs and all to way to the "Walk Through the Y" and the Full Mitochondrial Sequence.

Every month our lab in Houston processes tens of thousands of discrete tests.

Given the increase in the volume of orders and tests, we are adding additional people in our Customer Service department. These are all qualified personnel that receive very specific training and who give an individual answer to each email and phone call that they receive under almost every circumstance. Our policy has always been to answer email between 24 to 48 hours (excluding on weekends), and we are working towards coming back to this norm. We apologize for the inconvenience that delays beyond this norm have caused and we appreciate your patience and support while this situation is being corrected.

IT:
Our IT Department has a number of responsibilities. The main ones are:

Making sure that our Laboratory Information Management System (LIMS) works flawlessly so that there are no mix-ups in the lab or errors during processing.
Making sure that results coming out of the lab are seamlessly integrated with the personal records from our customers.
Writing the code for new features to be implemented, whether those features are conceived in-house or at the suggestion of our customers.

Obviously, they also have to fix bugs, because as we know - unfortunately - bugs happen. Any of you that have iPhones, iPads or Android apps know that we receive almost daily notifications for updates which most of the time relate to bug fixes. That doesn’t mean we accept all bugs as inevitable—beyond a certain point they’re not acceptable, so we are also taking the necessary steps to improve this situation by hiring additional qualified people. We believe that the results will be noticed soon. Again, we apologize and appreciate your patience and support.

* * *

As we grow and remain the leading company in the field of genetic genealogy and anthropology, we want to recognize the vital contribution that you - the project administrators - have played in this field since we pioneered it in 2000. The recent groundbreaking paper "An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree," published in the most prestigious journal in the field, The American Journal of Human Genetics, and widely mentioned in the press, was generated from a sample analyzed at our lab. The paper was authored by a group that included Family Tree DNA group administrators, our lab people and a member of our Scientific Advisory Board among others. This is a testament not just to the quality of FTDNA's science, but also to your contribution as citizen scientists over the years. For that we sincerely THANK YOU!

Family Tree DNA
www.familytreedna.com
"History Unearthed Daily"

Family Tree DNA also released this press release today:

Family Tree DNA's Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

-- By Offering Low Cost DNA Test, Family Tree DNA Aims to Expand Reach of DNA Testing to Encourage Further Exciting Discoveries About Human Origins

Houston/March 26, 2013 /PRNewswire/ -- Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic's Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report "An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree" in The American Journal of Human Genetics earlier this month. The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene's advisory board, and two of the company's staff scientists, Drs.Thomas and Astrid-Maria Krahn.

The DNA sample had originally been submitted to National Geographic's Genographic Project, the world's largest "citizen science" genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA's database for genealogical research. Once in Family Tree DNA's database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

"This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products," said Gene By Gene President Bennett Greenspan. "While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing. The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution."

The discovery took place at Family Tree DNA's Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project. Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company's Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations. Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

"Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago," said Dr. Michael Hammer. "Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade. This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise."

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%. By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research. They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

AncestryDNA, Raw Data and RootsTech

2013-03-25T03:35:00.002-07:00

Tim Janzen and I discussing the AncestryDNA features at RootsTech with AncestryDNA staff

Since RootsTech there has been lots of discussion regarding the features that AncestryDNA is and is not planning to offer their customers. I will address the many questions that I have received about the meetings in which I participated at the show, but first let's review:

Raw Data Downloads
On Thursday, AncestryDNA fulfilled their promise to allow customers to download their raw data. As Dr. Ken Chahine had assured me back in November, the file is not encrypted and is compatible with third party tools.

I sent my file to a number of third party providers:

After working with it a bit, John Olson announced on the site that he expects that Gedmatch will be accepting AncestryDNA uploads in about two weeks.
David Pike told me that he has updated his tools to work with the AncestryDNA files.
Leon Kull has reportedly updated his HIR search site to work with them as well.
Dr. Ann Turner has created an Excel macro to convert the AncestryDNA files to 23andMe format.

At the "Ask the Expert" Genetic Genealogy panel that I moderated at RootsTech on Saturday:

Bennett Greenspan told the audience that Family Tree DNA will be accepting AncestryDNA transfers into Family Finder starting on May 1st.
Dr. Catherine Ball confirmed that the raw data file is not phased and that they are delivering it as they receive it from the chip manufacturer Illumina. She also confirmed what Dr. Ann Turner had already discovered - the data labeled as "Chromosome 25" is from the PAR region. Further, the "Chromosome 23" label refers to the X chromosome data and "Chromosome 24" refers to the Y chromosome.

Additional notes:

Unlike Family Tree DNA, AncestryDNA is not removing any SNPs from the data - medically relevant or not.
The overlap between AncestryDNA's raw data file and 23andMe's should be around 690,000 SNPs due to the fact that they are both using the same Illumina OmniExpress Plus base chip. The ~10,000 SNP difference can be accounted for due to a different set of poorly preforming probes and test SNPs. Family Tree DNA's should have a similar overlap for the same reasons.
There is no mitochondrial DNA included in the raw data file because it is not included on the Illumina chip that they are using. (23andMe adds the mtDNA SNPs).

Search Function
As I expected from earlier conversations with AncestryDNA, a search function is next on the list. Kenny Freestone, Product Manager for AncestryDNA, discussed it in his presentation under the heading "What's Next". Although it is already in the works, Kenny could not provide a firm timeline for its availability when I asked.

We will be able to filter our list of matches by surname, location and username. As anyone who has worked with their AncestryDNA matches knows, this is sorely needed. There is no doubt that the many requests from customers pushed this up their list of priorities.

Genetic Ethnicity Update
Later this year, AncestryDNA will be updating their Genetic Ethnicity feature. They will provide more granularity in Europe and West Africa. We can also expect more accurate breakdowns. A number of AncestryDNA personnel acknowledged to me over the weekend that certain "ethnicities" (i.e. - Scandinavian) are overestimated for many customers. However, they also emphasized that much of the perceived problem with their admixture analysis stems from the question of "where and when". What they mean by this is that it is very difficult (and sometimes impossible) to pinpoint where specific DNA signatures were at an exact time in history.

As I always remind my readers, this portion of the science has a long way to go and will improve with more data and time. On the "more data" front, during her speech at the AncestryDNA luncheon on Friday, Dr. Ball was reportedly requesting that genealogists who know that all eight of their great grandparents were born in the same place share this information with AncestryDNA. This seems to imply that, like 23andMe has successfully done, AncestryDNA plans to use customer data to improve their predictions. They are also starting to work on incorporating the coveted SMGF collection into their admixture analysis, which should improve it greatly.

The good news is that AncestryDNA customers don't have to wait for this update to gain more insight into their ancestral origins. Now that AncestryDNA has made the raw data available, customers will be able to upload their raw data file to the various third party sites to try out the admixture calculators and/or send it to Dr. McDonald for his very highly regarded analysis.

Matching
AncestryDNA are currently working on an algorithm to improve matching for endogamous populations, specifically Ashkenazi Jews.

As I reported in November, the minimum threshold for matching is 5 megabase pairs. This was reconfirmed in a conversation I had with Dr. Ball on Friday. I also learned that there is no minimum SNP requirement. We discussed the possibility of AncestryDNA switching to centiMorgan measurements in the future.

Price
The test is now $99 for everyone - subscribers and non-subscribers. This was likely in response to 23andMe's recent price drop. Having attracted well over 120,000 customers in less than a year in business, AncestryDNA is proving to be an important player in this field. This new policy to attract subscribers and non-subscribers alike will only improve their market share.

International Customers
It does not appear that AncestryDNA has plans to offer their test to international customers in the near future, instead choosing to focus on the U.S. market for now.

Matching Segment Data and Chromosome Browser
On Friday at RootsTech, Dr. Tim Janzen and I sat down for a meeting with AncestryDNA management. Among others, we were joined by Dr. Ken Chahine, Senior Vice President and General Manager of DNA, and Dr. Catherine Ball, Vice President of Genomics and BioInformatics. (Dave Dowell also attended a portion of the meeting.) I found them to be very receptive to hearing our requests and the reasons behind them. At no time did they state that they had decided not to build a chromosome browser or release matching segment data to their customers in the future. Dr. Ball did express some privacy concerns, but was open to hearing ideas of how this could be addressed.

Tim Janzen explains his feelings while Ken Chahine looks on

During the meeting, Tim very emphatically explained his feelings on the need for matching segment data (above) and I resorted to begging (below)... {hehe}

Catherine Ball, Ken Chahine, Tim Janzen, me, Dave Dowell and Steve Baloglu

On Saturday, after attending Kenny Freestone's presentation, four advanced genetic genealogists approached him to discuss the chromosome browser issue. In addition to myself, Tim Janzen, Angie Bush, and Nathan Machula were present for the conversation. Kenny didn't have much to say and mostly listened to the arguments that we presented covering why we feel that it is essential that AncestryDNA offer the matching segment data behind their relative predictions. At no time did he state that AncestryDNA would not offer a chromosome browser or that the delay in doing so was because AncestryDNA didn't think that their customers could understand it. He did, however, confirm that it was not a top priority at this time. He also said that he personally reads all of the requests sent through the feedback button, so if you want them to reassess their priorities, then be sure and let them know.

Tim emphasized that both 23andMe and Family Tree DNA included a chromosome browser feature at the launch of their autosomal DNA product and wondered aloud why AncestryDNA had not done so as well. I explained to Kenny (as well as in my meeting with management) that, as genealogists, we expect conclusions to be evidence based. It is not in line with this principle to simply be told that a certain common ancestor is responsible for a DNA match and be expected to take AncestryDNA's word for it. Where is the proof? Since Kenny had shown a chart during his presentation of his ancestral lines that he claimed were genetically confirmed by AncestryDNA matches, I also pointed out the fact that those lines that he had shaded in weren't really confirmed without the actual genetic data to support that claim. To illustrate, I laid out my experience as follows:

On my AncestryDNA account, I was happy to find a shaky leaf hint a few weeks ago.

Upon reviewing the match, I noted that the common ancestor was through my mother's side. I was initially excited to see that I had inherited DNA from my 7th great grandparents on paper, Joseph Denison and Prudence Miner.

The only problem is that this match doesn't appear anywhere on my mother's 47 pages of matches. Do you know what this means? It means that I must have inherited the DNA responsible for the match through my father's side. Since all DNA inherited through my mother's line must come through her, AncestryDNA has identified the wrong common ancestor as the source of the DNA shared between LGB and me. A fluke of the algorithms...? Perhaps. Let's look at some more of my matches.

Once again, as you can see, the common ancestor identified by AncestryDNA is on my mother's side. A thorough search of my mother's matches shows that, once again, this person is not reported as a match to my mother. From this, we can only reach the conclusion that the DNA responsible for this match comes through my father's side - not my mother's. The common ancestor that I share with "Baerion" must be beyond a brick wall in her family tree or on my paternal side. In general, I have had more success filling in the branches of the maternal side of my family tree than the paternal side, so this is certainly possible.

Just to demonstrate that this isn't an isolated occurence, here is another one:

This match doesn't appear on my mother's match list either! So, out of my ten matches that have shaky leaves attached, three of them apparently have common ancestors wrongly identified as the source of our matching DNA. Do you see the problem here? Does AncestryDNA? If this match were, instead, at 23andMe or Family Tree DNA, I could check the DNA segment that we share and compare it to my other matches and/or my chromosome map. This would provide additional information and/or evidence to help me determine through which of my ancestral lines this segment of DNA was inherited. Might there be other explanations for these discrepancies? It is certainly possible, but without the underlying genetic data, it is impossible to say.

I am in the fortunate position to have tested my mother at AncestryDNA in addition to myself, so I can clearly see there is an issue. What about all of those people who have not tested a parent and are blindly accepting AncestryDNA's shared ancestor hints because they don't know otherwise? Isn't that kind of like copying someone's tree and just taking their word for it that it is correct with no sources or evidence attached? For now, those of us who do understand the finer points of autosomal DNA matching will have to do our best to convince our matches to upload to Gedmatch so they can see for themselves what they are missing.

As much as I, too, am disappointed that AncestryDNA has not yet provided the matching segment data, it is clear to me that the reasons behind this decision are far more complex than what others may claim is an attempt to dumb down the product because Ancestry.com thinks its customers are stupid. From my many conversations with Ken Chahine and others from AncestryDNA over the past year, I have come to appreciate that working within the framework of this 1.6 billion dollar corporation comes with its own set of challenges.

The Future
Tim Sullivan, CEO, has made it clear that Ancestry.com is committed to the DNA business and Ken Chahine has always been upfront with me and come through with his promises. So, I am going to give them the benefit of the doubt. From our very first conversation, I have advocated for the genetic genealogy community and looked out for our best interests and I won't stop doing so. I believe that they will do the right thing for their customers and the genetic genealogy community eventually. It may not happen as quickly as we would all like (yesterday!), but they are not the big bad wolf and I think it does us all a disservice to continually paint their intentions in a negative light. We are in early days yet. Let's give them a break.

Citizen Science Helps to Rewrite the Y Chromosome Tree and Illuminate the Ancestral Roots of African American Project Members

2013-03-01T02:32:00.000-08:00

The academic paper describing the discovery of a new root of the human Y chromosome tree, An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree, was finally released. This is important news for the entire scientific community, however it is possibly even more significant for our community of citizen scientists. Well-known genetic genealogist Bonnie Schrack is listed among the authors of this groundbreaking paper, which was published in the American Journal of Human Genetics on Thursday. She is the administrator of the Y-Haplogroup A Project at Family Tree DNA and was the one who first came upon the very unusual results from a project participant that ignited this entire discovery.

Bonnie Schrack, Y Haplogroup A Project Admin and Citizen Scientist

At the Family Tree DNA Conference last November, we were treated to a sneak peek into this history-changing research. I chose not to cover it at that time out of deference to the academics' plans to publish. However, I am now free to discuss the presentation and the findings. I'm sure many blogs will cover the more technical aspects of this important paper and the A00 Haplogroup, but I would like to focus on what this discovery means for us as genealogists and citizen scientists.

At the FTDNA conference, Bonnie Schrack described how several of her project participants just didn't seem to fit into any of the known haplogroup subclades. She brought this to the attention of FTDNA's Dr. Thomas and Astrid Krahn who, after much investigation and several Walk Through the Y tests on these divergent Y chromosomes, alerted Dr. Michael Hammer to one especially unique Y-chromosome. And the rest, as they say, is history.

Bonnie explains in her speaking notes, "All the project administrators out there have probably had the experience of having a few project members who don’t fit into your main groups, who have no matches. They’re usually not very happy about it! But for a haplogroup project, these same samples can be gold...These rare haplotypes are just what we need to explore and clarify the phylogenetic tree. With SNP testing, we can identify new clades, new branches on the tree, and they can become the heroes!" (Bonnie's slides and speaking notes can be found on her Haplogroup-A site.)

The AJHG paper thanks FTDNA customer, Jacqueline Johnson, and her male cousins for their contributions. It was one of these cousins, tested as part of Johnson's family history research, through whom this discovery was made. We do not know his name (and if he wants privacy, hopefully it will stay that way), but he is an African American man, descended from a former slave named Albert Perry (b.c. 1819-1827) who lived in York Co., South Carolina. Let's call him "Mr. A00 Perry". You can see his results, as well as those of one of his distant cousins descended from the same patrilineal ancestor, in the Haplogroup A Public Project Y here. They are listed at the very top, kits N64496 and 215865. (You can see some of the other interesting haplotypes just below these.)

One of the many very exciting aspects of this discovery for genealogists is that the scientists were able to compare the values of six of the Y-STRs commonly tested for genealogical DNA tests from "Mr. A00 Perry's" results to a database at an academic institution to determine that this haplotype is similar to 11 samples from Mbo individuals, a Bantu speaking population from western Cameroon.

The paper explains:
We then genotyped a set of six Y chromosome short tandem repeats (Y-STRs) (DYS19, DYS388, DYS390, DYS391, DYS392, and DYS393) and found that the A00 chromosome carried the following alleles: 16-11-19-10-12-13. Upon searching a large pan-African database consisting of 5,648 samples from ten countries (Cameroon, Nigeria, Ghana, Senegal, Uganda, Tanzania, Malawi, Zimbabwe, Mozambique, and South Sudan), we identified 11 Y chromosomes that were invariant and identical to the A00 chromosome at five of the six Y-STRs (2 of the 11 chromosomes carried DYS19-16, whereas the others carried DYS19-15). These 11 chromosomes were all found in a sample of 174 (~6.3%) Mbo individuals from western Cameroon.

Citizen scientist extraordinaire, Bonnie Schrack adds additional insight regarding her project members' probable direct paternal line origins on Dienekes blog:
Another thing I might mention is that our African American project members are a far closer match to the Bangwa people, whose haplotypes are found in the SMGF database...than to the Mbo who were sequenced. The Bangwa and Mbo are close neighbors, and rivals...when talking about who our project member's kinfolk in Africa might be, it's a far better chance they're Bangwa, from Fontem, Lebialem, than Mbo. We found two SNPs in our project members that were negative in the Mbo -- perhaps they'd be found positive if Bangwa were tested.

The Y-STR markers in question are all tested as part of the first panel for Y-DNA tests at Family Tree DNA. This means that a simple 12 marker Y-DNA test (currently only $39) would show if a man potentially matches this very unique haplotype or not. One of the Haplogroup A Project's stated goals is "to provide information on ancestral origins for African-American participants". This exciting discovery does just that and shows us the potential that is out there for African Americans searching for their African roots.

The paper estimates that the most recent common ancestor between "Mr. A00 Perry" and the Mbo men could be as recent as about 500 years ago:
We also estimated the level of variation among nine A00 lineages (i.e., including one additional Mbo individual) by using a battery of 95 Y-STRs for which all individuals had no missing data. A median-joining network shows that the African American A00 lineage is 11 mutational steps from the nearest Mbo and that the maximum difference between any pair of Mbo is nine steps. On the basis of these levels of within- and between-group variation, we calculated a second divergence time estimate of 508–2,428 years.

This is certainly powerful and, potentially, meaningful information for "Mr. A00 Perry" and his family. Let's review what they have learned:

It has been determined that the Y chromosomes most similar to his are currently found in the Southwest Region of Cameroon on the West Coast of Africa.
This fits well with their known family history of descent from Albert Perry, a slave, and the transatlantic slave trade originating from this area to the Americas.
The lower end of the estimated range for the common ancestor between "Mr. A00 Perry" and the Mbo men also fits well within the time frame of the slave trade. If it is true that the Bangwa men are more closely related to him than the Mbo men, this makes for an even stronger case.

Cameroon is on the West Coast of Africa

Transatlantic slave trade routes

These momentous discoveries were made thanks to tenacious and inquisitive citizen scientists, as well as willing participants within the framework of a commercial testing company. Not only were the noteworthy haplotypes originally recognized by genetic genealogist Bonnie Schrack, but the subsequent research was largely funded by the genetic genealogy community as well (notably Stan Pietrzak and Hamma Bachir Ahmed). Further, the private participants identified as potentially historically significant willingly underwent additional testing where necessary.

The paper concludes with this:
Finally, the discovery of the A00 lineage demonstrates the power of public participation in the scientific process—a venture that is likely to continue in the current era of personal genomics.

I think we can all bet on that!

This just goes to show that we have much more to learn about our shared history. Now, get out there and test those family members! You never know what you might find...Maybe you will help to unearth the next big discovery. Citizen science has come of age!

Professor Henry Louis Gates Jr. joins Dr. Spencer Wells as Headline Speakers for "Family HIstory and DNA: Genetic Genealogy in 2013"

2013-02-27T10:35:00.000-08:00

I am so pleased to be able to say that the support for the inaugural independent genetic genealogy conference has exceeded my most ambitious aspirations. My appreciation goes out to Professor Gates, Dr. Wells and all of our wonderful speakers for graciously and enthusiastically accepting my invitation to be part of this groundbreaking event. (You can register here.) The press release announcing the exciting addition of Professor Gates to our schedule follows:

“FAMILY HISTORY AND DNA: GENETIC GENEALOGY IN 2013”

TO FEATURE SPENCER WELLS, PH.D. AND HENRY LOUIS GATES., JR., PH.D.

It’s rare that a new type of event is introduced to the genealogical community. The Southern California Genealogical Society and the International Society of Genetic Genealogy are proud to announce such an event.

“Family History and DNA: Genetic Genealogy in 2013” is a one-day conference designed to fully explore the application of genetic genealogy in researching family history. It will be held Thursday, June 6, 2013, at the Los Angeles Marriott Burbank Airport, Burbank, California. Registrations are open now and an early-bird registration discount is in place through April 30.

“We are so excited that this new conference will break new ground in genetic genealogy gatherings,” said SCGS president Alice Fairhurst, who helped to found the society’s DNA interest group and has been actively applying DNA in her own genealogy research. “Family History and DNA” differs from other DNA events in several ways.

First, speakers are among the most highly respected and knowledgeable professionals in the DNA and genetic genealogy universe.

The opening session will be conducted by Spencer Wells, Ph.D., an Explorer-in-Residence with the National Geographic Society. He leads The Genographic Project, which is collecting and analyzing hundreds of thousands of DNA samples from people around the world. Dr. Wells’ presentation is “The Genographic Project and the Rise of Citizen Science.”

The luncheon speaker will be Professor Henry Louis Gates., Jr., Ph.D., director of the W.E.B. Du Bois Institute for African and African American Research at Harvard University. Dr. Gates is an American literary critic, educator, scholar, writer and film maker. His programs for PBS, including Finding Your Roots, African American Lives, Faces of America and Oprah’s Roots, explored family histories of a number of individuals through the use of DNA.

Other speakers include Judy G. Russell, JD, CG; Richard Hill; Emily D. Aulicino; Katherine Hope Borges; CeCe Moore; Tim Janzen, MD,; Blaine Bettinger, JD; and Debbie Parker-Wayne, CG. We are grateful for the enthusiastic support shown by all our speakers, especially Dr. Well and Dr. Gates, through their participation in this conference.

Second, “Family History and DNA: Genetic Genealogy in 2013” is produced by independent groups, not for-profit DNA organizations. The Southern California Genealogical Society (SCGS) and the International Society of Genetic Genealogy (ISOGG) have joined forces to offer this inaugural DNA event. While it is independent of financial support by any of the commercial DNA companies, the event will provide equal access to Family Tree DNA, 23andMe, and AncestryDNA.

CeCe Moore, speaker, conference co-chair and Southern California Regional Coordinator for ISOGG explained, “I've dreamed of a genetic genealogy conference sponsored by ISOGG for a long time, and I am thrilled to be working in cooperation with SCGS on this inaugural event. Holding the conference in conjunction with the Genealogy Jamboree helps us reach many family historians who would otherwise not be able to attend.”

Finally, the event’s three session tracks are organized by the level of experience using genetic genealogy, and not based on the attendee’s knowledge of family history. Sessions include beginner basics, use of DNA in finding adoptee families, famous DNA, autosomal DNA, mitochondrial DNA, analyzing results and other topics. The final hour of the day will be a resource hour, with small-group discussions and supplier assistance.

Complete information about “Family History and DNA: Genetic Genealogy in 2013” and the Southern California Genealogical Society’s 44^th Annual Southern California Genealogy Jamboree can be found on the Jamboree website, http://www.genealogyjamboree.com.

- - - - - - -

The Southern California Genealogical Society is located in Burbank, California. It sponsors the annual Southern California Genealogical Jamboree, which will be held June 7 through 9, 2013, at the Los Angeles Marriott Burbank, Burbank, California. The pre-event is the inaugural “Family History and DNA: Genetic Genealogy in 2013” conference.

Upcoming Presentations: Spring 2013

2013-02-26T21:13:00.001-08:00

With three presentations last week and a number more coming up in the next few weeks, I am fortunate to have many opportunities to educate genealogists on my favorite subject, DNA. Here is what is coming up on my schedule:

This weekend, I am presenting at the OCCGS Genealogy BASH in Huntington Beach. This event is a celebration of the 50 year anniversary of the Orange County Genealogy Society held on Saturday, March 2nd from 8:00am - 3:30pm. I am joining seven other favorite Southern California speakers: Barbara Renick, Jean Wilcox Hibben, Norma Keating, Gina Philibert-Ortega, Randy Seaver, Linda Serna, Dawn Thurston and will be giving two talks on genetic genealogy in the afternoon. The event will be held at the Huntington Beach Central Library, 7111 Talbert Avenue, Huntington Beach, CA 92648.

Next weekend, I will be speaking at Discover Your Roots XI: 11th Annual African American Family History Conference in Los Angeles. This is an all day event on Saturday, March 9th from 9:00am - 4:00pm to be held at the LDS Historical Chapel, 1209 South Manhattan Place, Los Angeles, CA 90019. I am joining 21 speakers at this event and will be giving a beginning genetic genealogy presentation in the afternoon.

On March 22nd and 23rd, I will be presenting two sessions at RootTech in Salt Lake City. "The Genographic Project 2.0" will be on Friday and the "Ask the Experts: Genetic Genealogy Panel" will be held on Saturday morning.

On March 30th, I will be teaching an all day genetic genealogy workshop for the Chula Vista Genealogical Society. This is their Spring Seminar and will be held from 9:00am- 3:00pm at the Chula Vista Golf Course, 4475 Bonita Rd, Bonita CA 91902. This workshop will give attendees a good foundation for applying their DNA testing results to their genealogy research. The fee to CVGS members is only $35, $40 to non-members and late registrants after March 22 and includes a catered lunch. You can register here. There will also be copies of Richard Hills' terrific book Finding Family: My Search for Roots and the Secrets in My DNA available for purchase. The Chula Vista La Quinta Inn has a block of rooms reserved for only $80 for the seminar (mention CVGS). Reserve by March 4th to get the discount.

On April 20th, I will be speaking about beginning genetic genealogy at the Ventura County Genealogy Society at 1:00pm. This will be part of their monthly program series and will be held at the LDS Church, 3501 Loma Vista Rd, Ventura, CA 93003.

On May 17th, I will be speaking at the San Diego Chapter of the DAR monthly meeting at 11:00am. The meeting will be held at the Admiral Baker Golf Course, located at 2400 Admiral Baker Rd, San Diego, CA 92120.

On June 6th, I will be giving an intermediate level presentation on Autosomal DNA for Genealogy at the Family History and DNA: Genetic Genealogy in 2013 conference. I will be joined by many of the most respected speakers in the field.

I will be involved in three presentations at the SCGS Genealogy Jamboree on June 7th and 8th, On Friday, I will be participating in the "Genetic Genealogy: Ask the Experts" panel and on Saturday I will be presenting "Using DNA Testing to Discover the Genealogical Roots of Adoptees" and participating in the Blogger Summit panel with Thomas MacEntee.

Whew...it is going to be a very hectic couple of months! I look forward to meeting many of you while I am busily spreading the news about the fascinating and increasingly exciting world of genetic genealogy!

Family Tree DNA Lowers the Price of the 12-marker Y-DNA Test to $39 in Step Toward Universal Access

2013-02-20T14:43:00.000-08:00

A DNA test for only $39 = Universal Access! This is terrific news for anyone who wants to "dip a toe" into the waters of genetic genealogy. It is also a great opportunity to get your relatives' DNA in storage for future use since Family Tree DNA will store it for, at least, 25 years. The press release announcing the news will follow:

HOUSTON, Feb. 20, 2013 /PRNewswire/ -- Family Tree DNA, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to $39, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line. In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA's comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line. The company expects to unveil new pricing for this test in spring 2013.

As the sponsor DNA Workshop of "Who Do You Think You Are - Live" in London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database – the largest of its kind in the world.

"We believe the first step to unearthing your personal and family history is to better understand your DNA," Gene By Gene President Bennett Greenspan said. "That's why we are continuously investing in new technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices. Our $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data."

Customer Inquiries Individuals interested in Family Tree DNA's $39 Y-DNA test, or any of its ancestral testing products, can visit www.familytreedna.com for more information.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact: Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn
888-609-8351
croft@csirfirm.com

SOURCE Gene By Gene, Ltd.

RELATED LINKS
http://www.genebygene.com

A Visit to Family Tree DNA's State-of-the-Art Lab

2013-02-09T22:44:00.001-08:00

The array viewer of FTDNA's Applied Biosystems 3730xl DNA Analyzer - that's DNA!

I have been a bit behind in my postings, but I didn't want to miss the chance to write about the incredible lab tour of Family Tree DNA's awesome facility, which was definitely one of the highlights of the 2012 FTDNA Administrator's Conference for me. I don't know if you all realize it, but Family Tree DNA is the ONLY company in the field that has their very own lab. They process everything from start to finish in their state-of-the-art facility in Houston for the thousands of different DNA tests that they offer. (Thomas Krahn notes that the individual Y-SNP tests alone number over 2900!) Some people might find it comforting to know that when ordering a test through FTDNA, this very trustworthy company is the sole handler of their DNA sample.

Bennett Greenspan, CEO of FTDNA with stored B-Swab Samples

This lab is even capable of processing exome and whole genome sequences. (These are available through Family Tree DNA's sister division DNA DTC, both a part of Gene by Gene). Max Blankfeld proudly told me that almost immediately after the announcement, they were already receiving orders for both tests. This is really exciting if you think about it. The first company to offer genetic genealogy testing is, according to The Genomics Law Report, also the only company currently offering these advanced tests-of-the-future in a "truly direct-to-consumer manner". ("Gene By Gene probably does represent, however, the only commercial company currently offering a whole genome sequence in a truly direct-to-consumer (DTC) manner." DNA DTC: The Return of Direct to Consumer Whole Genome Sequencing, Dan Vorhaus, November 29, 2012)

Okay, on to the lab tour! Tim Janzen has kindly shared both his notes and his photos with my readers. I have added to Tim's notes just a bit, but most of what you see below was written by him. (I lost my notes and, although I did use some of them, the photos from my cell phone aren't as nice as Tim's photos from a "real" camera!)

Tim was smiling like this pretty much the entire tour!

On November 12, 2012, Family Tree DNA graciously allowed approximately 30 attendees from the FTDNA conference to take one-hour tours of their laboratory facilities in Houston, Texas. Bennett Greenspan, the president of FTDNA, primarily led the tours and Max Blankfeld led some supplemental tours (for those of us who showed up late!). The tour participants all donned lab jackets for the tour, making us feel very official (I got to be Thomas Krahn). Bennett explained the functions of a number of very important pieces of DNA equipment as he took us through the lab. (Update - Thomas Krahn has added some very interesting and educational commentary throughout this post. I have added it below or just after what it is referencing. Thanks Thomas!)

"Your Genetic Genealogist" parading as Thomas Krahn
Do you think I fooled anyone?

One of the first pieces of equipment we viewed is used to extract the DNA from samples that are sent to FTDNA. The DNA is extracted through an automated process. Ninety-six samples can be processed at a time. FTDNA can complete 600 extractions per day and has a 98.8% success rate of extracting DNA on the first try.

Another piece of equipment held primers that are used to test for specific short tandem repeat (STR) tests and single nucleotide polymorphism (SNP) tests. (Note from Thomas Krahn: We're taking the DNA from the DNA tubes and transferring them to a reaction plate which contains the primers and the rest of the PCR assay. In a previous step the primers were distributed in the correct wells by automatically picking the correct primer pair so that the customer gets the segment sequenced where the marker is located that he's interested in.)This process is also entirely robotized so that multiple tests can be run at a time. The lab must repeatedly change the plastic covers on the pipettes to ensure that DNA from two different samples is never mixed as part of the testing. (Note from Thomas: We use the covers just as a precaution. In case a droplet is released from the pipetting tips during the movement of the robot we want to make sure that the primer assays are not contaminated with human DNA. With lids the primer library is safe. We would easily recognize such a contamination because of mixed basecalls, however primers are expensive and we want to protect the primer library from such a contamination. The chance that DNA samples mix is pretty small because we reduce the speed of the robot drastically while we have the tips over the DNA plate. In any case such a cross contamination could probably not be prevented with a lid method. The pipetting tip is discarded after the DNA from one person is distributed into all the assays that he ordered. Each DNA sample gets a brand new tip so that cross-contamination through the tip itself can be excluded.)

FTDNA's automated equipment that is used to combine DNA with primers

Bennett Greenspan proudly showed off the robotic DNA storage freezer that the company purchased in autumn of 2011. It was designed and manufactured by the engineering company Matrical Bioscience in Spokane, Washington. This piece of equipment took many months to design and build. After it had been built, it was disassembled and shipped to Houston. The installation process in the FTDNA lab took approximately 6 weeks. This chamber stores multiple small trays that hold 96 DNA samples each. The samples are held in small vials about 3/4 inch in height and about 3/8 inch in diameter. The trays holding the samples are about 4 inches by 7 inches in size. There are thousands of trays stacked on top of each other in a -20 degrees Celsius chamber approximately 5 feet by 8 feet in size. A robot inside this chamber retrieves DNA samples from the approximately 175,000 samples that are stored there in a very strictly regimented and automated fashion. (Note from Thomas: I have just made a query and there are currently 173,012 DNA tubes in the store. However more than 50% of them have been added during the last year. 500,000 is the approximate number when the store is 100% full. We have rigorously sorted out empty and bad tubes from our repository in the past and we run regular compression procedures so that the racks are not half empty.) This robot is wired to a computer station outside the room. At the computer terminal a lab technician can enter a series of kit numbers for DNA samples for which additional testing has been ordered. The technician can then leave the area to do other things while the robot automatically retrieves the samples that were chosen. Ninety-six samples can be retrieved at a time and the retrieval process takes approximately 30 minutes. When the retrieval process has been completed the technician then returns to the storage unit, picks up the tray of samples and takes it to another piece of equipment for the additional testing that the customer has ordered, such as upgraded STR panels or individual SNP tests.

The interior of the MiniStore storage chamber. The robot is retrieving samples.

The functions of other pieces of equipment in the lab were also explained by Bennett. One machine is used for mitochondrial DNA sequencing. There is also another piece of equipment that is used to lyse the cells in each of the DNA samples and prepare them for extraction of the DNA. Additionally, Bennett showed us a room that contains thousands of DNA samples that have not yet been processed. These samples are held in long-term storage at room temperature for eventual use by customers who wish to order additional testing.

Bennett also took us to a different room where the Geno 2.0 SNP chip tests are being processed. Approximately 154,000 SNPs are tested on a single chip for the Geno 2.0 test. Considering this, the chips are relatively small at approximately 1 inch by 4 inches in size. The actual scanning area is only 5mm by 5mm per assay. (Note from Thomas: On one of those glass slides there are 12 samples processed simultaneously.) At the time we were there, thousands of chips were being processed.

Bennett holding one of the Geno 2.0 SNP chips

Bennett showed us the new sequencing machines that were recently purchased so that the company can do large-scale complete genome sequencing. The two new Illumina HiSeq 2000 machines can sequence 10 times as much as the Applied Biosystems DNA Analyzers are capable of using 454 sequencing and can sequence a complete genome in three runs. These machines are approximately 2000 times as efficient as using the primers used in Walk Through the Y testing and are 100 times as efficient as the Applied Biosystems 454 sequencer. (Note from Thomas: The HiSeq instruments are producing more sequences so that you get a higher coverage. If the machines are also more "efficient" for finding new mutations by the same scaling factor is still to be demonstrated. Simply scaling the average coverage of 400 KB from the WTY times 2000 would yield 800 MB, however the Y chromosome is only 50 MB long and only 20 MB can be effectively aligned to the reference sequence. To overcome this problem you'll want to enrich for target specific DNA and you'll want to barcode several samples so that they can be pooled together on one instrument run. This again reduces the "efficiency" by quite some significant percentage.) FTDNA has two new Illumina MiSeq DNA sequencers as well. The lab now has the capability to sequence six whole genomes in two weeks and 64 exomes at 80x coverage in one week.

Bennett discussing the two new Illumina HiSeq 2000 high output DNA sequencers

The FTDNA lab tour was an exciting experience. It was very interesting to see all of the technicians at work running the various DNA tests that we as FTDNA customers have ordered. I was incredibly impressed by their vast array of state-of-the-art equipment. Hopefully, Bennett and the rest of his lab staff will continue to allow these tours for attendees at future FTDNA conferences. If you haven't seen it yet, it is well worth your time and I highly recommend it.

The following may be overkill for some of you. If so, I will just say goodbye to you here. However, if you are like me and you just can't get enough or want to gain a better understanding of how this all works from the inside, here is a series of photos from the lab tour.


FTDNA's Biomek FXP Laboratory Automation Workshop, used for DNA extraction and primer stamping for pre-arrayed assays (such as FMS or WTY)

FTDNA's automated equipment used to prepare PCR assays

Comment from Thomas: FTDNA's automated equipment that is used to combine genomic DNA with primers to prepare a PCR assay. An in-house developed software controlls the pipetting steps so that the ordered assay is run with the correct DNA.

FTDNA DNA lab technicians at work


FTDNA lab tech pipetting a cheek swab sample to prepare for DNA extraction

Comment from Thomas: This is the only step that still needs to be processed manually because we haven't found a robot that is able to remove the cotton swab from the vial yet.

More FTDNA lab techs at work

Tim checking out FTDNA"s MiniStore re-arraying platform inside the DNA freezer

Comment from Thomas: (This is) where the individual DNA sample tubes are re-arranged to the position where they will be processed in the assay. We try to prevent thaw and freeze cycles wherever possible because they will degrade DNA. So instead of taking out a complete plate (where we may only need a single sample) and thaw it completely, we use this technology of re-arraying tubes in the frozen state so that only the processed samples will be thawed and all other samples will stay frozen. The DNA samples/plates are actually stored in the back compartment and on the left side. Those areas are not clearly visible in the image.

The interior of the MiniStore storage chamber holds over 500,000 DNA samples
(seen at the back side)

One of the thousands of plastic trays that FTDNA uses to hold DNA samples

Shaking incubation chamber used to lyse cells so that DNA can be extracted

Comment from Thomas: The recipe for the liquid in the sample vials is optimized for long term storage under a large variety of storage conditions. Essentially the high salt concentration will suck out all water from inside the cheek cells (by osmosis) so that the cells form compact clumps and conserve their ingredients. This makes the sample more resistant to mechanical shearing and the high salt concentration also inhibits growth of micro-organisms that could digest the cells. The downside of this is that we need to use harsh mechanical forces when we enzymatically want to open the cells to extract the DNA. Shaking a 2 ml sample tube in an upright position doesn't really move the liquid in the tube a lot. Therefore we turn the tubes horizontally and shake them along the tube axis where the liquid has a longer path to accelerate. This method has been proven to be very effective.

Biomek FXP Laboratory Automation Workstation

Eppendorf Mastercycler thermal cyclers amplify DNA segments

Linda Magellan with 1 of 3 Applied BioSystems 3730xl DNA Analyzers

Bennett with FTDNA's 2 Illumina MiSeq DNA sequencers in the background

FTDNA technician processing Geno 2.0 SNP chip tests

Close-up of tech processing tests, note the SNP chips in the liquid

Stacks of hundreds of Illumina SNP chips that have been completed

Comment from Thomas: Before we dispose the chips to the glass recycling facility, we temporarily store them for a few weeks. During a 48-hour time frame they are still good and since they are barcoded we may have the chance in rare cases to re-scan a chip in case some bad read happened at the scanner.

Bennett holding a box of 100 unprocessed samples being held in long-term storage

FTDNA's storage room where 1000s of unprocessed samples are held...


...Can you see yours?

Water purification system

Comment from Thomas: In order to get ultrapure water for molecular genetic assays (such as PCR) the tap water needs to pass through several steps:
1.) Pre-filter to remove particles such as sand and rust from pipes
2.) Membrane filters to get rid of small particulate material
3.) Ion exchangers to remove Ions and salts
4.) Reverse osmosis to remove organic compounds. At this stage we use the water for general cleaning purpose such as for the lab dishwasher and for rinsing flasks. However to get PCR grade water we continue with:
5.) Another step of ion exchange and reverse osmosis in a laboratory grade water purification system to remove any contamination coming from the plastic tube piping internal of the lab.
6.) Then the water passes a sterile filter before it is bottled in a glass flask to remove bacteria and other micro-organisms.
7.) Finally the bottled water is heat sterilized in an autoclave at a temperature that should degrade all possible DNA chains that may have survived to this point.

We also have a room with two air compressors that supply compressed air for the robots. One of them is a backup system because at an interruption all robots will stand still. They are in a separate room across the hallway because they're quite noisy and produce a lot of heat.

Bennett with Geno 2.0 SNP chips

Illumina MiSeq machine

Bennett demo-ing the Illumina MiSeq machine

Automated pipetting system

Allied BioSystems 3730xl DNA Analyzer, used for sequencing

Comment from Thomas: Each lane represents a sequencing trace where the bases are displayed in 4 different colors. This display format gives the technician a quick overview about the quality of the complete run. The fluorescence intensities are digitized by a analog to digital converter so that it can be saved on a computer, but they still represent analog measurement values. When talking about a digital output the impression could arise that the display shows the scored base-calls which is really processed in a later step.

Max Blankfeld leading the late arrivals

Bennett amuses Lauren (and the rest of us as well)

Did someone ask a question that stumped Bennett? Nah!

Ever wonder where your customer service calls go?

Jeremy happily assists customers

FTDNA employees preparing DNA test kits

Bye-bye FTDNA! See ya next year.

Thanks to Tim and Rachel Janzen for sharing their photos, Tim for helping to write this and to FTDNA for the spectacular tour.

Brought to you by the AdoptionDNA Community...DNAGedcom

2013-01-08T17:31:00.000-08:00

I think most people know how highly I think of the work that the AdoptionDNA Community is doing. They are a proactive group of incredibly intelligent and talented individuals who have banded together with a common cause - to give hope to all adoptees searching for their heritage. I am proud to say that I often collaborate with members of their community and can count a handful of them among my closest colleagues.

Fortunately, for the rest of us non-adoptees, their innovative work is starting to benefit us all. The methodology that they have created for their adoption cases has recently resulted in many success stories and can be applied to most any relatively recent genealogical brick wall. They have created ways to streamline the work of autosomal DNA matching and analysis and are now offering to share this with the rest of the genetic genealogy community.

The New DNAGedcom Site

The new website DNAGedcom delivers some of the tools that are most often requested from the major DNA genealogy companies. In this first phase of development, developer Rob Warthen has recently enabled access for all users to the FTDNA Family Finder and 23andMe downloads (though he cautions users that, at this early stage, there may still be bugs to work out). Through DNAGedcom it is now possible to download a full list of your matches, including the matching segment data from both companies. Those of us who have worked extensively with autosomal DNA for genealogy, know what a huge time saver this is. For me, with over 1000 shares on my main account at 23andMe, it has saved me tens if not hundreds of hours.

Users are required to register to use the site, but it is a quick and easy process.

Create an Account

For Family Tree DNA's Family Finder, this means that instead of downloading the matching segments from the Chromosome Browser five at a time, it can be done all at once. You can also download a file of "In Common With" matches, which formerly had to be checked and compiled one-by-one. To use the ICW tool, you still must assign each of your Family Finder matches to a specific relationship like "Distant Cousin" (which is certainly true for the vast number of our matches) until such time that FTDNA removes that requirement for their filter. (At the 2012 FTDNA Administrators' Conference, they announced their intention to do so.)

Family Tree DNA Tools

For 23andMe, this means that instead of downloading the matching segments for Family Inheritance Advanced three at a time, it is now possible to download a file with all the matching segment data for each of your matches that you are sharing genomes with all at once. If you have a single profile on your account, the Ancestry Finder matching files will also be downloaded. I usually integrate the public matches from the Ancestry Finder file with the Family Inheritance Advanced data to create a master spreadsheet of all available matching segments for each of the profiles I manage.

23andMe Tools

There is even a place to store your spreadsheets (.csv files up to 200 KB)!

Member Spreadsheet Storage

This website is still in the early development stages, but intends to continue to deliver the most often requested tools to the genetic genealogy community. In fact, there is already a full featured phase two version of the site with even more highly desirable capabilities in development. (Rob tells me that improving AncestryDNA's functionality is next on the list!) The site is currently run solely on donations and affiliate income. The website agreement can be found here and is linked to directly from the home page. Any problems with the site should be directed to support@dnagedcom.com.

There are lots of exciting plans in store over at DNAGedcom and I am thrilled to be joining the team that will be further developing this groundbreaking new site. So far, we are:

Robert Warthen - Chief Technology Officer
Karin Corbeil - Chief Operating Officer
Diane Harman-Hoog - President
James Kelley – Professional Technologist and Systems Programmer
Gaye Tannenbaum – Technology Advisor
Patty Drabing – Principal Researcher and Advisor
CeCe Moore – Genetic Genealogy Advisor

Those of you familiar with adoption search, may recognize the names of some of our top search angels there. Their experience and expertise, combined with that of our very talented technology experts has made for a powerful team.

So, go check it out, but please don't crash the server! (JK - Rob tells me it is stable.)

In Loving Memory of Joan Miller - Genetic Genealogist, Blogger and Dear Friend

2013-01-06T17:09:00.000-08:00

I am extremely saddened today to learn of the passing of my dear friend and fellow genetic genealogist and blogger, Joan Miller. Joan passed away on Friday after a very brave battle with a long illness, throughout which she always stayed positive and full of hope. She was just that kind of person.

When I first started blogging, Joan was extremely encouraging and generous. At the SCGS Genealogy Jamboree 2011, she encouraged me to attend the GeneaBloggers' Ice Cream Social. While there, she lovingly walked me around the room and introduced me to every person there. I was deeply impressed by her kindness that night and continued to be so throughout our friendship.

The timing of her death meaningfully coincides with the announcement of the SCGS/ISOGG "DNA and Genetic Genealogy Conference" to be held in conjunction with SCGS Jamboree. This is very significant to me since my dream of this conference was born from Joan's vision. At the 2011 SCGS Jamboree we discussed her idea to approach the organizers of the event to host a genetic genealogy pre-conference. She never got the chance to do so, but when they came to me with the same idea, I immediately thought of Joan. It is a reality now and I know that she would be so proud. My participation in this conference will be in her honor and we will be memorializing her contributions at the event.

Due to the distance between our homes, our friendship was mostly "virtual", but I had the pleasure of interviewing Joan at the 2011 Family Tree DNA Administrator's Conference. She spoke about her love of genetic genealogy with passion and intelligence (just like she did everything). She was such a joy.

Joan was a prolific and award winning blogger at the Luxegen Genealogy Blog. One of her favorite subjects to write about was genetic genealogy and we owe her gratitude for introducing many of her readers to DNA testing for genealogy. As a retired manager of a medical research lab and a self-described "science geek", Joan was uniquely positioned to understand the complexities of DNA testing and, as a natural teacher, translate that knowledge into easy-to-understand language for her readers. She also coordinated the Alberta Family History Society DNA Interest Group where she was an active volunteer. They were very lucky to have her there to mentor the participants in person.

As a long-time genealogist, she was an early adopter of using the Internet to connect with other genealogy researchers. According to an interview at GeniMates.com, she set up her first genealogy webpage in 2001. She was well known as an active and beloved member of GeneaBloggers and the online genealogy community as a whole. As such, I'm sure that my memorial post will not be the only one.

As I write this memorial to Joan, the word generous comes to mind over and over. She was the definition of that word in so many ways. It was Joan who inspired many of us to join the Kiva Genealogists for Families Project where she was a team leader with Judy Webster. Making a commemorative loan in her name seems like a fitting tribute. [Update - Joan's daughter Heather has asked that commemorative loans or donations in memory of her mother should be made through Kiva and the Genealogists For families Project linked above.]

For the recent Fall 2012 Issue of the AFHS Chinook Journal, Joan and I co-authored a Genetic Genealogy Reference Guide. She did most of the work on it, but generously insisted that I receive credit for the updates that I made to her list since she had been away "From the GeneaSphere" (the name of her regular column in the journal) due to her illness.

Alberta Family History Society's Chinook Journal

She also asked me to look after her small, but beloved Aumack DNA Project while she was healing. I guess that was a more permanent request than I had hoped. Joan had first started working with DNA for genealogy in 2005 when she asked her brother to test so she could join the Kerr/Carr DNA Project (Kerr = her maiden name). She speaks about that experience and what she learned in our video interview above.

Joan and I shared regular, albeit brief, correspondence since she learned of her illness about a year ago. In our last exchange, she was her typically encouraging and positive self and more interested in my well-being than hers. Always thinking of others, she enthusiastically shared an idea she had for me - to create a DNA ebook for beginners. I should listen to her advice.

She described herself and her interests on her Google+ page:

A retired manager of a med research lab, Joan Miller is a genetic genealogist with an interest in social media and technology to complement traditional genealogy research. Her genetic genealogy activities include Aumack Y-DNA project administrator and coordination of the Alberta Family Histories Society (AFHS) DNA Special Interest Group.

Joan has been involved in genealogical research for over 20 years and she tries hard not to bore the rest of the family with her hobby (addiction?). Several family members do read her blog and they all love the family tree banners she creates and the stories she collects.

She is a member of the Genealogical Speaker’s Guild, and various genealogy societies. This busy genealogist writes a regular column entitled “From the Geneasphere” for “Chinook”, a publication of the Alberta Family History Society and serves on the Public Relations committee of that Society.

Joan is the creator of the Luxegen Genealogy Blog which was named in Family Tree Magazine’s Top 40 Genealogy Blogs for 2011. She served as an Official Blogger for Rootstech 2011 and is delighted to be continuing in that role in 2012.

Joan, who lives with her husband and their daughter’s cat in Calgary, Alberta, Canada enjoys varied activities. She volunteers with Toastmasters International, plays indoor soccer, relishes outdoor pursuits, and travels widely. She has admitted that she is a “Genealogy Conference Junkie”.

She loved her family so much and was extremely proud of her beautiful children. My condolences and love go out to them at this heartbreaking time. The last Tweet from the former enthusiastic advocate of social media (retweeted from Alex Flint) passed along some poignant advice to us all on December 15th:

Turn off the news. Get off twitter. Go spend some time with the people you love instead. Much better use of time. Peace out.

I think I will go do that now, but I will be thinking of Joan who I loved very much. We all did. She was one of the most generous, kindest souls I have ever know. I will never forget her.

Signing off to Joan the way she always did to me...Xoxoxo

Announcing the Inaugural DNA and Genetic Genealogy Conference Sponsored by ISOGG and SCGS: To Be Held in Conjunction with the SCGS Genealogy Jamboree

2013-01-04T14:59:00.000-08:00

I am so excited to finally be able to share the following news:

DNA and Genetic Genealogy Conference

Jan 4, 2012 - The International Society of Genetic Genealogy and the Southern California Genealogical Society announce an innovative, important one-day DNA conference, “Family History and DNA: Genetic Genealogy in 2013,” to be held June 6, 2013, in conjunction with the Southern California Genealogy Jamboree.

The featured speaker is Dr. Spencer Wells of the National Geographic Genographic Project, who will review the Genographic Project 2.0. Other speakers presenting state-of-the-art uses of DNA in the search for ancestors include The Genetic Genealogist Blaine Bettinger; Dr. Tim Janzen; The Legal Genealogist Judy G. Russell; Your Genetic Genealogist CeCe Moore; DNA Testing Adviser Richard Hill; and Katherine Borges, the director of ISOGG. Also participating in the day-long seminar will be representatives from the major commercial DNA organizations – Family Tree DNA, 23andMe and AncestryDNA. Separate tracks will be targeted for beginners and advanced genetic genealogists.

One-on-one consultations will be available during the final hour of the day. Help is available to interpret results and to use the various testing organization websites and resources. This personal assistance will help even the most inexperienced family historians apply genetic genealogy as another tool in their research toolbox.

What makes this event so special? “This is the very first genetic genealogy conference that is independently produced by societies such as ISOGG and SCGS,” explained CeCe Moore, the conference co-chair. “I have dreamed of an ISOGG-sponsored genetic genealogy conference for a long time, and I am thrilled to be working in cooperation with the SCGS Jamboree on this inaugural event. Holding the conference in conjunction with the Genealogy Jamboree helps us reach many family historians who would otherwise not be able to attend.”

“We are so excited about breaking new ground in genetic genealogy gatherings,” said SCGS president Alice Fairhurst, who also leads the society’s DNA interest group and has been actively applying DNA in her own genealogy research. “As more family historians have DNA tests, genetic genealogy is becoming more valuable in the search for ancestors and living relatives.”

Online registration for “Family History and DNA: Genetic Genealogy in 2013” and the Southern California Genealogy Jamboree opens on Friday, January 4, 2013. Early-bird discounted registration is $175 for SCGS members and $195 for nonmembers. Prices increase after 30 April 2013.The conference will be held at the Los Angeles Marriott Burbank Airport, 2500 Hollywood Way, Burbank, CA. The Southern California Genealogy Jamboree will also be held at the Burbank Marriott on June 7-9, 2013. It is produced bu the Southern California Genealogical Society, 417 Irving Drive, Burbank, CA 91504, phone 818-843-7247.

Further information can be found at www.scgsgenealogy.com and http://genealogyjamboree.blogspot.com.

I will also be keeping everyone updated here at "Your Genetic Genealogist".

Comparing Admixture Test Results Across Companies (otherwise known as "ethnic" breakdowns): FTDNA, AncestryDNA, 23andMe and Geno 2.0 - My Review

2012-12-18T00:59:00.001-08:00

With the recent releases of Geno 2.0 and the new 23andMe Ancestry Composition feature, I thought it would be a good time to review and compare my biogeographical ancestry (BGA) results from each of the major DNA testing companies. (BGA is sometimes referred to as ethnic breakdown or admixture analysis.)

My Known Ancestry
First, let's take a look at what I know of my ancestry:
25% Finnish
12.5% Scandinavian (Norway)
12.5% British (England)
~25% Colonial New England (presumably mostly British)
~15.63% Unknown (due to brick walls and immigrant ancestors of unknown origins)
~9.38% German

CeCe's Ancestry Percentages
You can create your admixture pie chart here.

Family Tree DNA's Population Finder
FTDNA's Population Finder (comes with Family Finder) was one of the first commercially available admixture tests based on chip technology.

I am listed as 98.93% Western European (Orcadian) with a 1.31% margin of error. Surprisingly, none of my substantial Finnish ancestry was detected. In my case, Population Finder is not very informative so I am glad that FTDNA will soon be updating this feature. Of course, many people's Population Finder results will be much more detailed than mine, so my experience may not be a typical representation of this feature's capabilities.

AncestryDNA's Genetic Ethnicity
Just a couple of weeks ago, AncestryDNA's admixture tool was the newest entry into the market, but times are changing fast.

It's one thing for results to not be especially informative like Population Finder above, but for them to be downright wrong is disappointing. This feature underestimates my Finnish ancestry and overestimates my Scandinavian ancestry, both substantially. Because I have tested my mother, I know that they are estimating a large amount of Scandinavian from my mother's side when there is no Scandinavian ancestry in her extensively documented family tree at all. Does that mean that she doesn't have any? Not necessarily, but AncestryDNA estimates that she has 62% Scandinavian and only 23% Finnish (instead of ~50%) ancestry. Although none of these admixture tools are perfect, this one seems to be the most misleading. Notably, I have received many messages from people confounded and even very upset by their AncestryDNA Genetic Ethnicity results.

23andMe's Ancestry Composition
23andMe started out with a very conservative three population breakdown called Ancestry Painting. Customers had long been requesting an updated version. Happily, the brand new Ancestry Composition is much improved. There are three different views and a number of resolution and confidence settings. I prefer the most granular (Sub-regional Resolution) and lowest confidence (Speculative) of those.

Map View:

Chromosome View:

Split View:

This version matches my known ancestry the most closely and is also in line with the ancestral origins represented in my Relative Finder/Family Finder/AncestryDNA match lists. It was fun to see that even my tiny amount of Ashkenazi Jewish ancestry was detected. Although this tool is definitely the most informative and flexible, it isn't without problems in this early version. For example, on the Split View, all of my Finnish should be from my maternal side, but you can see that 4.6% of my estimated 21.5% Finnish is erroneously assigned to my paternal side. Conversely, almost all of my Scandinavian is correctly assigned to my paternal side. Since my deceased father wasn't tested at 23andMe, they had to compute the Split View without my father's results, which makes it more challenging. However, since I have tested both of his siblings there (they don't have any Finnish), advancements in the future may help in this regard. I have many relatives tested at 23andMe and the vast majority of them have results very much in line with their family trees. Both of my sisters' Ancestry Composition results seem even more accurate than mine, as do my mother's, both of my aunts' and my uncle's. (I may just be a bit of a mutant!)

National Geographic Geno 2.0's Who Am I?
As most of you know, the new phase of the Genographic Project started returning results a couple of weeks ago. Screen shots show the different components that make up my ancestry according to these results.

Then, they list the two reference populations that match the combination of my components the most closely. Interestingly, even though I am only one quarter Finnish, they chose Finnish as the first one.

Next, they choose Iberian (Spain and Portugal) as the second population, which doesn't fit with any of my known ancestry.

This admixture tool is different than the other ones reviewed here because it is looking at deep ancestry from thousands of years ago. Personally, as a genealogist, I don't find it as informative or as satisfying as the admixture results that reflect more recent ancestry. I also don't really like how each person's unique combination of ancient components is essentially forced into a single (more recent) population label. This, no doubt, works very well for those whose ancestors have been in one geographic region for hundreds or even thousands of years, but it does not result in highly relevant results for those of us who are highly admixed with ancestry from many different regions. I find the tools that analyze and attempt to categorize small portions of my DNA separately, giving percentages of each region or ethnic group that add up to my total ancestry more meaningful.

Conclusion

At this point in time, for those interested in the origins of their ancestors in the last couple hundred to few hundred years, 23andMe is the best choice in my opinion (especially at the new price of only $99). If your interests are more focused on deep ancestry and anthropology, then Geno 2.0 would be my recommendation. (Remember though that this review is focused on admixture features only. There is much more to take into consideration when purchasing a DNA test for genealogical purposes!)

All of these companies would be well-advised to focus on improving their admixture results for those with non-European ancestry. (Obviously, the majority of their customers have been of primarily European ancestry so far, but optimally everyone will have the the same opportunities of self-discovery in the future.) 23andMe has publicly stated their plans to do so and I'm sure that the other companies will address these shortcomings as well. AncestryDNA's acquisition of the Sorenson database and National Geographic's vast collection of indigenous population samples puts them in the best position to advance in these areas in the near future, but as 23andMe has demonstrated, customer samples carefully vetted with genealogical information can be utilized with great success as well. As more people are tested, particularly internationally, there will be improvement across the board.

It is important to remember that as intriguing as these admixture predictions are, none of them are 100% accurate at the granular level. We still have a long way to go before anyone can honestly claim to be able to tell a person exactly where their ancestors once lived based on their autosomal DNA alone. However, we are making progress and in a couple of years we will likely be amazed at the advances. In the meantime, the ever-increasing competition between the major companies is proving to be beneficial, spurring all to improve their offerings. So, don't count any of them out quite yet. In a short time, my opinions regarding the "best of" may have completely changed again!

*For more information on these features, please see:

Geno 2.0 - First Look! and My Geno 2.0 results: Step by Step

23andMe's New Ancestry Painting - First Look!

My Review of AncestryDNA's Admixture Tool

[Disclosure: I have relationships with all of the companies reviewed above. I received complimentary Geno 2.0 and AncestryDNA kits for review purposes. I occasionally receive complimentary 23andMe test kits through my work as a volunteer "23andMe Ancestry Ambassador". Additionally, I have affiliate relationships with Family Tree DNA, 23andMe and Ancestry.com (not on DNA tests) and own a small amount of Ancestry.com stock. I always strive for complete objectivity - none of these relationships have affected the opinions stated in this blog in any way.]

My Geno 2.0 Results: Step-by-Step

2012-12-12T01:05:00.003-08:00

As much fun as I have had posting and reading about other people's Geno 2.0 results in the last couple of weeks, I have to admit, there's nothing quite like getting my own (finally)!

OVER THIRTY-FIVE THOUSAND SOLD
According to the "infographic" below, I am one of 559,515 Genographic Project participants. (You can access this individualized image through the yellow "Share" button on the top right of the "Your Story" page.)

There were 524,384 participants from Geno 1.0, so judging from this, there are now 35,131 new Geno 2.0 participants. That is certainly a lot and we don't even know if that is the number of kits sold to date or just the number of results being returned now. This means at least 35,131 kits have sold since Geno 2.0's introduction in July of this year. (Pretty awesome!)

MY STORY

MY MATERNAL LINE
My Geno 2.0 mitochondrial DNA haplogroup is U5b1b2 which is consistent with 23andMe's and mtDNA Community's label for me, while my full mitochondrial sequence at Family Tree DNA designates me as mtDNA Haplogroup U5b1.

If you click on the arrows on your map, you will be walked step by step through the migration pattern of your direct maternal line ancestors, ending with a heatmap of the frequency of your subclade (if available). Of course, being female, I don't have a Y-chromosome to explore, but as part of their results, males also receive their Y-DNA haplogroup subclade (terminal SNP), direct paternal line's migration route and heatmap.

The next step that is recommended by National Geographic is to "Complete Your Profile" and "Contribute Your Story". These can be accessed through the Profile tab and the Our Story tab respectively, but for the first to be accessible, you need to opt into research participation under Profile > Account Settings. The default is "You are currently not participating", but if you check the box below and click on save...

...it changes to this:

Then, under Profile, go to "About Me", "About My Family" and "About My Ethnicity" and fill in the pertinent details.

Next, go to the Our Story tab at the top and you will see this:

If you scroll down below this, you will find this window, where you should enter information about your direct maternal ancestral line. This story should only include information on your mother's mother's mother's (etc...) line. Here's mine:

To see your story and the others that have been contributed, click on the "Read Stories" button on the opposite window under "Browse All Stories".

These are the other participants whose mtDNA haplogroup is U5b and have contributed their stories so far. There aren't very many people tested with mtDNA like mine yet as you can see from the "Universe" graphic above (the big blue circle with the red-orange center). The five dots are people whose mtDNA is most similar to mine.

Just for fun, here is peek at a few of the public Y-DNA stories. See anything interesting?

WHO AM I: AUTOSOMAL DNA AND ADMIXTURE
Next, let's take a look at my autosomal admixture results.

According to this, my admixture includes:
45% Northern European
35% Mediterranean
15% Southwest Asian
2% Northeast Asian

Which places me closest to...

Pretty cool since I am 25% Finnish, which as far as I know, is my biggest chunk of ancestry from any single area. My percentages don't match up exactly by any means. My Mediterranean component is significantly higher and my Northeast Asian component is lower than the typical Finn. The description for this latter component notes "... it is also found at a frequency of 5-10% in the Finns, likely introduced by the migrations of the Saami people from Siberia into Finland over the past 5,000 years." Since only one quarter of my ancestry comes from Finland, this discrepancy makes sense.

But, wait, hold on...

Iberian?! I don't have any known Iberian ancestry. Anyway, it doesn't look to me like I match it all that closely anyway. (For details on how they reach these conclusions, read my earlier post.)

I'm not sure that this method of trying to match all of a person's ancestry to one population label works well for very admixed individuals like me. My individual components may appear to fit best with these two populations when taken as a whole, but this doesn't account for the mixed ancestry I have from multiple regions.

HOMINID DNA
This part of the test is definitely intriguing although I don't really know what to make of it.

The Neanderthal percentage is very close to my 23andMe Neanderthal result of 2.5%. The Denisovan seems on the higher end compared to other results I have seen, but investigating that will have to wait for another day.

EXPERT OPTIONS: TRANSFERRING AND DOWNLOADING
There seems to be much confusion regarding downloading the raw data file and transferring the results to Family Tree DNA, so I thought I would review the Expert Options section.

To transfer your results to Family Tree DNA, go to the Profile tab and then Expert Options:

Click on "Transfer to FTDNA":

Check the option for Geno 2.0 and enter your NatGeo Kit Number (found on your box and/or Profile> Account Settings> Geno 2.0 ID Code, where you have previously entered it to register). Then, check the box if you have a Family Tree DNA kit and enter your kit number and password as above. Click on "Next". On the next screen, you will be prompted to enter your address and it will look like you are going to be charged, but choose "Invoice" (instead of Credit Card) and keep going. Then, you will receive a screen to review that will show a cost of $0. Place the order and, if successful, you should get this:

and this:

If you aren't sure if it worked, check your home page for this:

So far my account results don't show anything different, but I already have the mtDNA full sequence, so I'm not sure what would be imported anyway. Many of the men importing their results are getting an extensive list of Y-SNPs on their Haplotree page like this:

Although importing Geno 2.0 results doesn't delete the results from the SNP testing that was previously performed at FTDNA, it will override what appears on the project pages.

Apparently, there is a delay for some accounts receiving the raw data download option and so far, mine hasn't appeared yet. When it does, it will be located under the "Expert Options" tab, just above the "Transfer Data to Family Tree DNA" option and look like this:

It is downloaded into a CSV file after clicking on the Download button.

I was hoping to be able to check my raw data file to see how my mtDNA heteroplasmy was reported, but apparently that will have to wait for another time.

LOTS MORE TO COME...

Obviously, I don't have my own Y-DNA results to review, but I have been reading all of the reports from our citizen scientists who are already immersed in investigating those newly released results. I will be sure to report on their findings since this will, undoubtedly, be the area of the most groundbreaking discoveries.

In my next post, I will compare and review my admixture results from all four companies.

[Disclosure: I received a complimentary Geno 2.0 kit from National Geographic for review purposes. This has not affected my opinions or analysis.]

23andMe Receives $50 million and Drops Price to $99 in Bid for One Million Customers

2012-12-11T08:39:00.000-08:00

23andMe Raises More Than $50 Million in New Financing

The good news just keeps coming in the genetic genealogy world! Just think what this will mean for all of our research...a pool of ONE MILLION customers to fish for relatives! If you have been wondering what to get for the holidays, here it is!

Company Sets Growth Goal Of One Million Customers, Reduces Price to $99 from $299

MOUNTAIN VIEW, Calif. – December 11, 2012 – 23andMe. Inc., the leading personal genetics company, today announced it has raised more than $50 million in a Series D financing. Participants in the financing include Yuri Milner, a new investor, as well as existing investors Sergey Brin, 23andMe CEO Anne Wojcicki, New Enterprise Associates, Google Ventures and MPM Capital. This investment will help the company achieve its growth goal of one million customers.

The Power of One Million People
Expanding the company’s ability to reach and serve one million individuals supports 23andMe’s goal to revolutionize health and wellness. It also will accelerate 23andMe’s ability to create a powerful platform that enables researchers around the globe to make meaningful discoveries significantly faster than is currently possible. With this expansion, 23andMe, which currently has more than 180,000 customers, will aim to:

Enable groundbreaking research by creating an exponentially larger collective of actively engaged, genotyped individuals;
Help accelerate development of new treatments;
Improve understanding of wellness and disease prevention; and
Broaden access for people seeking to manage their health and well-being through direct access and greater understanding of their own genetic data.

“A community of one million actively engaged individuals will be transformational for research. A community of this magnitude will improve researchers’ ability to quickly answer questions about genetic function and the role of environmental factors. In addition, it will enable researchers to understand medication efficacy and side effects, in both medications that exist today and medications are that are in development,” Wojcicki added.

Broadening Access: Lowering Price to $99
The Series D investment, combined with rapidly decreasing costs associated with genetic testing technologies, enables 23andMe to reduce the price of its Personal Genome Service to $99, effective immediately. The company will continue to evaluate optimal pricing strategies.
The investment also enables 23andMe to expand the necessary infrastructure to support growth in its research and operational capabilities, including product development, genetic research, software development, recruitment and marketing.

About 23andMe
23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service^® enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at 23andMe.

Be one of the million that will change the world - order your $99 23andMe kit now!

[**Update: The price of upgrades from v2 to v3 has also dropped to only $95.]

23andMe's New Ancestry Painting - First Look!

2012-12-06T18:16:00.000-08:00

23andMe's long awaited Ancestry Painting 2 (now called Ancestry Composition) is finally here. I am extremely pleased with my results and those of my family.

The results are presented as a ring chart with settings for different confidence levels and regional detail. The easiest way to figure out how it works is to just click around, trying the different options.

To inspect more closely, click on any of my images to enlarge.

This is my Standard Painting with no regional detail (still 100% Booooring!):

After clicking on the rings or on the + sign, I get this:

Clicking some more, I get this:

Then, changing from Standard setting to Speculative, I get this:

I vastly prefer the "Speculative" setting since it seems to fit very well with what I know of my ancestral origins.

The pie chart below reflects my known ancestry. It was created from an Excel spreadsheet made by John Tierney and available on his blog.

Ancestral breakdown based on my family tree

Compare to my new AP2 percentages:

My Finnish and Scandinavian percentages seem a bit low, but in my sisters' paintings, they look about right:

My mother's also appears to fit with what I know of her heritage:

My dad's siblings have an interesting surprise in that we finally got some different colors:

It appears that perhaps I do have some African ancestors after all (in a relatively recent time frame)!

My brother-in-law's ancestry becomes even clearer with the new Ancestry Painting. The small amount of Asian disappeared and was replaced with an increased African component. From what I've seen during beta testing, this appears to be the case with many of those with African American ancestry.

Compare to his old Ancestry Painting:

Another person who is half Indian got this interesting result:

Compare that to his old Ancestry Painting:

Much improved, right?

Look at this chart:

Beautiful, huh?

CHROMOSOME PAINTING

I am happy to report that, although we did not get a chance to beta test this portion of the new feature, the chromosome painting, including the X chromosome, is now live.

My painting:

With my Finnish ancestry highlighted:

This is what it looks like with one Finnish parent:

*Note that the paternal and maternal chromosome orientation is not always consistent in placement (top versus bottom) in this chart.

This man has one Indian parent:

Pretty clear, isn't it?

And this a beautiful painting:

Don't you agree?

PHASING AND SPLIT VIEW

23andMe uses their own customized version of a phasing engine called BEAGLE to separate out the genetic components inherited from each of our parents, even without actually testing them. However, if you have a parent or child in the 23andMe database, then your phasing will be improved. This will lead to more accurate assignments as well as more detail contained in your ancestral breakdown (i.e. Italian versus Unspecified Southern European). Therefore, if you are fortunate enough to have tested one of these close family members, you need to let 23andMe know about this by connecting their profiles to your Family Tree.

If you have at least one of your parents in the 23andMe database (and connected to your tree), then you get a third view called "Split View". This view will automatically show you which parent contributed which portions of your ancestry.

REFERENCE POPULATIONS

23andme is currently using 22 populations. They can all be seen on my breakdown here:

In order to get more information on the origin of the reference populations, you can click on their labels and it opens up to this:

For some populations, 23andMe has a lot to go on:

and for some, not so much (as expected):

Obviously, we would all like to see more detail and variety in the African reference populations. For now, this is all there is:

The new Ancestry Composition is expected to continue to change and improve as 23andMe builds their database. As you can see, this is especially important for African Americans. In the announcement on the forum, 23andMe geneticist and Product Manager Mike Macpherson acknowledges, "But there’s still more to do. One important example of this is that the system is designed to be able to update the reference populations. As it is now, Ancestry Composition can dive into European ancestry, but it offers limited resolution into East Asia and Africa. We’re working now on an update that will split up the Eastern Asian and Sub-Saharan African populations."

The 23andMe white paper explaining how this new feature works tells us just how far they have come, "We compiled a set of 7,868 people with known ancestry, from within 23andMe and from public sources. That’s over 15,000 chromosomes, since every individual contributes a chromosome from both their mother and their father. This a big jump over the 210 individuals that powered our original Ancestry Painting feature." The paper further tells us that the public reference datasets that make up the "Public" numbers that you see above, include the Human Genome Diversity Project, HapMap, and the 1000 Genomes Project. It goes on to explain, "Populations may be inherently difficult to distinguish because of historical mixing, or we might not have had enough data to tell them apart. As we obtain more data, populations will become easier to distinguish."

At least for me, this is a very good start! In fact, I think this just might be the best admixture tool I have tried so far. What do you think?

Official Press Release: National Geographic Unveils New Phase of Genographic Project

2012-12-04T21:01:00.000-08:00

As readers of this blog have been aware since July, National Geographic has begun the second phase of the Genographic Project with the introduction of Geno 2.0. Today, they are announcing it to the rest of the world through the press release printed below:

Human Migration Map, Courtesy National Geographic

National Geographic Unveils New Phase of Genographic Project: Combines Powerful New Technology, Citizen Science

More than a Half-Million Participants Traced Deep Ancestry in First Phase

WASHINGTON—The National Geographic Society today announced the next phase of its Genographic Project — the multiyear global research initiative that uses DNA to map the history of human migration. Building on seven years of global data collection, Genographic continues to shine new light on humanity’s collective past, yielding tantalizing clues about humankind’s journey across the planet.

“Our first phase drew participation from more than a half-million participants from over 130 countries. It is evidence of enormous interest in deep ancestry among the global public — tracing the paths their ancestors took as they migrated around the world over the past 60,000 years,” said Project Director Dr. Spencer Wells, a population geneticist and National Geographic Explorer-in-Residence. “Now, the Genographic Project’s second phase creates an even greater citizen science opportunity — and the more people who participate, the more our scientific knowledge will grow.”

Spencer Wells speaks to an audience.

Geno 2.0
The Genographic Project enters this groundbreaking new stage of research by harnessing powerful genetic technology to further explore and document the historic pathways of human migration. Based in part on a unique database compiled during the project’s first phase, the next generation of the Genographic Project Participation Kit — Geno 2.0 — examines a unique collection of nearly 150,000 DNA identifiers that offers rich, ancestry-relevant information from across the entire human genome. In addition to learning their detailed migratory history, participants will learn how their DNA is affiliated with various regions in the world, and even if they have traces of Neanderthal or Denisovan ancestry — from our ancient hominid “cousins” who lived in Europe and parts of Asia tens of thousands of years ago before going extinct.

Participants will receive their results through a newly designed, multi-platform Web experience. In addition to full visualizations of their migratory path and regional affiliations, participants can share information on their genealogy to inform scientists about recent migratory events. These stories also can be shared with the broader Genographic Project community; as the number of contributions grows, the experience will become richer, as participants learn more about themselves and their shared ancestry. Results also can be shared as an infographic for social platforms.

Already, project results have led to the publication of 35 scientific papers, reporting results such as the origin of Caucasian languages, the early routes of migrations out of Africa, the footprint of the Phoenicians in the Mediterranean, the genetic impact of the Crusades and the genetic origins of the Romanian royal dynasty that included Vlad the Impaler. The project’s DNA results and analysis are stored in a database that is the largest collection of human anthropological genetic information ever assembled.

A man looks into the sunset in the Sahara Desert

"The Genographic Project truly represents another facet of a new age of exploration. The newest Genographic technology will push the limits of our research, inspiring us to learn more about ourselves and leveraging the insights gleaned so far to take citizen science and genetic testing to a whole new level,” said Terry Garcia, executive vice president of Mission Programs at National Geographic.

Applications from Scientists Welcome
New to the second phase of Genographic, the project will invite applications for grants from researchers around the world for projects studying the history of the human species, which use innovative anthropological genetic tools such as the custom-designed “GenoChip,” a technology developed by scientists using Illumina’s Infinium iSelect HD BeadChips specifically for the study of human migration patterns. Sample research topics could include the origin and spread of the Indo- European languages, genetic insights into regions of high linguistic diversity such as Papua New Guinea, the number and routes of migrations out of Africa, the origin of the Inca or the genetic impact of the spread of maize agriculture in the Americas.

During Genographic’s first phase, Wells and project scientists traveled the globe to collaborate with tens of thousands of indigenous people, whose genetics are particularly significant in determining human migratory routes. Wells and Pierre Zalloua, principal investigator in the Middle East, for example, collaborated with the Toubou people of northern Chad, whose DNA has revealed insights into ancient migrations across the Sahara. Genographic’s principal investigator in the Oceana region, Lisa Matisoo-Smith, worked intensively with people on the remote south Pacific island of Emirau, collecting DNA samples and sharing the results with them.

Two Women in Khorog, Tajikistan.
Photo by David Evans

The Genographic Project team worked with individuals, institutions and organizations all over the world to find and tell their genetic stories, including the prime minister of Kazakhstan, who invited Wells and his colleagues to collect DNA samples in his country after becoming fascinated with his family story as revealed by his Genographic kit results; the people of Barbados, who requested a study on the pattern of diversity in the country using the public participation kits; and members of the public in South Africa, who learned that they carry links to the region’s earliest inhabitants, the San people, in addition to genetic lineages from elsewhere in Africa, India and Europe.

The project also tested 200 random people on a single day on a block of Queens, New York, to demonstrate the area’s diversity. In a collaboration with cellist Yo-Yo Ma’s multidisciplinary education foundation The Silk Road Project, more than 400 students at four New York City public schools swabbed their cheeks and traced their ancient ancestry.

A portion of the proceeds from the sale of Genographic Participation Kits funds project research and the Genographic Legacy Fund, which awards grants to support community-led cultural conservation and revitalization initiatives among indigenous and traditional communities around the world. So far, the Genographic Project has provided 62 Legacy Fund grants worth $1.7 million. Efforts supported by the grants include the creation of teaching materials on the ancient wisdom of the Chuj in a Maya community in Guatemala and the revitalization of indigenous languages in Nepal, India, Taiwan, French Polynesia, Mexico and Bolivia.

‘GenoThreads’ Connects Students, Teachers
A new education program called GenoThreads enables science, culture and geography to be naturally woven into a shared educational experience. GenoThreads connects students and teachers around the world who are using Genographic participation kits; this allows a cross-cultural exchange between students via email and videoconference for a truly global experience. In the first GenoThreads project, high school students in Switzerland are sharing their results with those halfway across the world in Singapore.

A student looks at the Genographic Project map.

Members of the public are encouraged to visit the Genographic Project’s newly created website at www.genographic.com. Featuring National Geographic photography, the website gives Genographic participants the opportunity to learn more about their own ancestry and find ancestral connections. The Genographic Project remains nonmedical and nonprofit, and all analysis results are placed in the public domain following scientific publication. The Genographic Project serves as an unprecedented resource for geneticists, historians, anthropologists and citizen scientists.

**For exclusive screen shots of the first results from Geno 2.0, visit here.**

More on Geno 2.0: Third Party Resources and Images from a Second Set of Results

2012-11-30T21:22:00.002-08:00

It turns out that an additional correspondent of mine received her National Geographic Geno 2.0 results in the last batch and she has kindly given me permission to share them. I have also received word that several third party tools are ready to accept GenoChip (Geno 2.0) raw data.

THIRD PARTY TOOLS
Mitochondrial DNA researcher James Lick's mthap tool (mtDNA haplogroup predictor) is now capable of processing the new GenoChip raw data. In fact, his tool returns an even more detailed subclade for the K1a1b1 result (shown below) than Geno 2.0 currently reports (K1a1b1f). This was also true for a K1 sample that was extended to K1e with Jim's tool.

Happily, reversing his earlier statements, Dr. Doug McDonald has successfully adapted his admixture analysis program to be able to work with the Geno 2.0 files. However, as expected, he reported that the results are inferior when compared to using 23andMe and Family Finder files due to the lower number of SNPs that he is able to incorporate in his program.

Dienekes announced today that he has created a converter to run Geno 2.0 files on his DIYDodecad tool.

After working with a raw data file, Mike Cariaso, cofounder of SNPedia, tells me that versions of Promethease 0.1.149 and later will be able to read the Geno 2.0 files directly.

Leon Kull reports that he is accepting Geno 2.0 files for inclusion in his HIR Search autosomal DNA matching database.

Y-DNA researcher David Reynolds compiled a list of Y-SNPs on the GenoChip from the raw data file. He explains on the ISOGG Facebook page, "While we don't know the exact location yet of most of the 12,000+ (e.g., the CTS, F, PF SNPs), this will answer the questions about which DF/L/Z etc SNPs are included."

Dr. Tim Janzen, 23andMe Ancestry Ambassador and ISOGG Y-SNP Tree Committee Member, is currently working on creating a file that will include the SNP positions for all of the SNPs on the GenoChip that are also found on the 23andMe v3 chip. I will add the link here when it is completed (probably tomorrow).

Dr. Ann Turner (we all know who she is and needs no introduction from me!) has informed me that she is ready to share the spreadsheet method that she has been working on to facilitate Geno 2.0 raw data usage with third party applications. She tells me, "GenoConvertTemplate.xlsm contains a macro to convert the GenoChip raw data download to the format used by 23andMe, which many 3rd party utilities can handle. It uses Build 37 numbers for the chromosomal locations of the SNPs." She would like to test it with additional Geno 2.0 data files, especially from people who have also tested at 23andMe and are willing to share both files with her. Please contact Ann directly for access or to donate your raw data (you can write to me for her email address if you don't have it).

Mitochondrial DNA researcher and mtDNA Haplogroup K Project administrator Bill Hurst has spent quite a bit of time examining the data as well. After working with two files, he commented (in agreement with Jim Lick) that so far he "was impressed by the full coverage of the test, even while testing only 19% of the mtDNA."

I had full confidence that our amazing community of researchers/citizen scientists would come through for us and they have, even more quickly than imagined! Thank you to all those who have contributed so far to this groundbreaking project. (There's a long way to go yet!) I would be remiss if I didn't note that this expedient work could not have happened without the generosity of both Sharon and Anna in sharing their early data. Thanks go out to both of them from all of the community!

The researchers listed above are still looking to examine more raw data files, so if anyone reading this has received their results and would like to contribute to the cause, please contact me or any of the researchers directly. If you have a third party tool that is accepting Geno 2.0 raw data and is not listed, please comment below or email me to be added. I will continue to update this list as I receive more info, so please check back periodically.

**To access your Geno 2.0 raw data for use with these tools, go to "Expert Options" under the Profile tab and download the .CSV file to your desktop.**

MORE RESULTS FROM GENO 2.0:

YOUR MATERNAL LINE
Here are the newest set of mtDNA results:

WHO AM I?
These are her autosomal results:

Note: Clicking on a percentage brings up information about that population

National Geographic has recently clarified that the matching reference populations listed as first and second (shown in this screen shot) are not in order of closest matching, but simply the top two.

Interestingly, her Denisovan ancestry component is significantly lower than the other account that I reviewed.

OUR STORY
It looks like there are a few more "stories" in the community section now:

There are a total of 30 as of today (more than when I looked yesterday!).

TRANSFERS
I tried to transfer her data to Family Tree DNA (found in Expert Options under the "Download Data" button),

but I got this:

"The kit you entered already has a Population Finder, new PopFinder data cannot be transferred"

It appears that if you already have a Family Finder test from FTDNA (which includes the Population Finder feature), then you cannot transfer your Geno 2.0 results at this time. I'm surprised by this since Family Finder (PopFinder) and Geno 2.0 are very different products. Further, this customer does not have a mtDNA test in her FTDNA account, so she should be able to transfer her mtDNA results at the very least. One project administrator has already reported that a woman has transferred her results into an FTDNA Project, so contrary to earlier reports, women are not automatically blocked from transferring their Geno 2.0 results to FTDNA. I'm quite confident that National Geographic or FTDNA will clarify this issue for us soon.

MORE TO COME...
I'm sure this will be only one of my many future posts on Geno 2.0, so stay tuned.