Monday, November 28, 2011

23andMe Cyber Monday Discount Today

23andMe has announced their Cyber Monday sale. It isn't as much of a discount as their usual holiday sale and apparently ends at noon PST today [Update- 23andMe says that was a typo and the sale will go through Midnight]:

"Happy Cyber Monday From 23andMe! Today only $25 Off Our Personal Genome Service®. Offer ends 12pm PST Click Here." [Update- if the link doesn't work for you try the code "Cyber2011".]

That's $74 + $9/per month - a big improvement from the price not so long ago, but not the highly anticipated sale that many were expecting.

GearDiary hints that there may be more sales on the horizon, although there is no way to know if they will be any better than this one:
"And for the 2011 holiday season, 23andMe will offer special discounts beginning on Cyber Monday, November 28, 2011, with $25 off via Facebook and Twitter only. Additional holiday specials will be announced on Facebook and Twitter throughout the month of December."

 I'll probably sit this one out. How about you?

Wednesday, November 23, 2011

National Geographic's "Explorer: How to Build an Ancient Man"

Today National Geographic Channel debuted the newest entry in their Explorer series, "How to Build an Ancient Man" or as it was called by my cable company "Reconstructing a Stone-Age Human". Although the subject of ancient DNA is not my area of expertise, I am posting my notes from today's airing in response to numerous requests.

Most of what was revealed in the show, plus supplementary data can be found in the 2010 scientific article detailing the findings here and in National Geographic's news story here.

In this episode, Professor Eske Willerslev from the University of Copenhagen and his colleagues analyze DNA from a tuft of human hair that was preserved in Greenland's permafrost for 4000 years. They claim that their findings overturn a mainstream theory about how humans populated the Earth.

Approximately 4,500 years ago the first pioneers to Greenland appeared on the western shores, vanishing after about 1,500 years. They are called the Saqqaq people. "Various theories have suggested that they were direct ancestors to the Inuit, or that they were actually Native Americans who penetrated into the High Arctic," Willerslev said. The accompanying article states, "The origin of the Saqqaq and other Palaeo-Eskimo cultures, and their relationship to present-day populations, has been debated since they were first discovered in the 1950s."

Dr. Willerslev traveled thousands of miles, spending years unsuccessfully hunting for viable ancient DNA samples before finally discovering that the elusive DNA was less than 2 km from his office in the basement of the National Museum in Copenhagen and had been for 25 years. A one-of-a-kind 4,000 year old genetic sample was found in the permafrost around Disko Bay in 1986 in the form of a matted tuft of human hair. In 1986 this was just a curiosity, but with technological advances it is a genetic goldmine.

To remove any contamination of the ancient DNA from bacteria and the people who handled it, the hair sample was washed in a bath of bleach. Then they added enzymes to break down the cellular structure of the hair, baking it in high heat. This liquefied the hair, resulting in a concentrated sample. The team was thrilled to discover that almost all of the genetic material survived necessary to reconstruct the genome and there was very little contamination. Because of the presence of a Y-Chromosome, they determined that the hair belonged to a male and named him "Inuk".

Using Illumina technology, the team was able to find genetic markers that indicated that the Saqqaq had adapted quickly to the Arctic region and that Inuk had dark hair (consistent with the sample), brown eyes, shovel teeth, brown skin, dry ear wax and Type A+ blood. All of this pointed toward an Asian origin. He also had a genetic predisposition for baldness, which indicated that he died young since he appeared to still have plenty of thick hair. From the supplemental material in the article linked above, I was able to find that his mtDNA Haplogroup was D2a1 and his Y-DNA Haplogroup was Q1a (according to the supplemental material there is some question about the subclade). The authors also felt that Inuk's genome showed signs of inbreeding and estimated that his parents were, most likely, first cousins. The team compared Inuk's genome to the Dorset people, who were the next human inhabitants in the area, and found that there was no direct genetic link between them and that the Saqqaq must have gone extinct.

"Looking at one million places on the genome (SNPs)," the team further concluded that Inuk and his Saqqaq people were not closely related to the Native Americans or the Inuits currently living in Greenland, but instead had the most genetic similarity to the Chukchi, the Koryak and the Nganasans peoples of Northeast Siberia. These findings challenge the commonly-held view of migrations into the New World, telling us that the theory of only two migrations into the New World is not correct. (#1. ~15,000 years ago across the Beringia land bridge. #2. 6,000-8,000 years ago by boat along the coast.) Because the land bridge had disappeared by the time of this third migration into the New World, the Saqqaq must have traveled to Greenland by boat or walked over the ice in the winter.  The scientists called their migration a "marvel of the Stone Age" and theorized that there were probably many other trial and errors that have disappeared from the genetic record, concluding that the history of ancient migrations and populations is "a bit messier than we thought - a much richer story." Professor Willerslev closed by saying that the sequencing of this first ancient genome was a "new beginning for science" and "Inuk opened the door to a completely new level of ancient genetics and understanding of human migration".

Tuesday, November 15, 2011

Family Tree DNA Holiday Sale!

The FTDNA sale was just announced!

Effective immediately this promotion will end on December 31, 2011.

New Kits
Current Group Price SALE PRICE
Y-DNA 37 $149 $119
Y-DNA 67 $239 $199
mtFullSequence $299 $239
SuperDNA (Y-DNA67 and FMS) $518 $438
Family Finder $289 $199
Family Finder + mtPlus $438 $318
Family Finder + FMS $559 $439
Family Finder+ Y-DNA37 $438 $318
Comprehensive (FF + FMS + Y-67) $797 $627
Upgrades
12-25 Marker $49 $35
12-37 Marker $99 $69
12-67 Marker $189 $148
25-37 Marker $49 $35
25-67 Marker $148 $114
37-67 Marker $99 $79
Family Finder $289 $199
mtHVR1toMega $269 $229
mtHVR2toMega $239 $209
 
ALL ORDERS MUST BE PLACED AND PAID FOR BY MIDNIGHT DECEMBER 31st 2011 TO RECEIVE THE SALE PRICES. THIS PROMOTION IS NOT VALID IN CONJUNCTION WITH ANY OTHER PROMOTIONS OR COUPONS.
AT THIS TIME, WE WILL NOT BE OFFERING DISCOUNTS FOR THE Y-DNA111, NEW KITS OR UPGRADES. THOSE MAY BE OFFERED AT A LATER TIME PENDING THE LAB VOLUMES WITH THE TESTS UNDER PROMOTION.
Log in to place your order


[Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Wednesday, November 9, 2011

Family Tree DNA's 7th International Conference on Genetic Genealogy- Day Two

I am finally posting my notes from Day Two of the FTDNA Conference. I was unable to attend a couple of the lectures due to other obligations, so Tim Janzen of the Mennonite DNA Project has kindly given me permission to post his notes too, designated as [TJ].

DAY TWO

ISOGG Meeting, Katherine Borges and Alice Fairhurst:
• On Sept 6, 2011, California Governor Jerry Brown signed into law the Padilla Act SB 559, which adds "genetic information" as a category for which a person cannot be discriminated against in the State of California. This makes California's genetic protection laws stronger than the current federal protection under GINA. The law takes affect on January 1, 2012. Other states need to follow California's lead on this.
• ISOGG has submitted an application to speak at ASHG 2012 in San Francisco.
• The ASHG survey and the publication of academic papers supporting regulation of DTC genetic testing are concerns for ISOGG.
• ISOGG members interested in protecting the public's right to direct access to their genome should join the ISOGG email group (no money involved).
• In Memory of fellow admins Kenny Hedgpeth and David Brown (Rose Project).
• ISOGG Wiki is growing. Tom Hutchison has developed the "Create a Book" tool.
• Alice Fairhurst discussed the ISOGG Y-tree, international contributions and the addition of many new SNPs. Requests that papers on new SNPs be sent to her.
• The ISOGG Y tree is not the same as FTDNA Y-tree, however both are in concordance with the YCC (Y-Chromosome Consortium). Both trees are correct. The difference is that the ISOGG Y-tree is updated much more often (95 times this year compared to one annual update for the FTDNA Y-tree). "It is easy for ISOGG to update the tree rapidly because we are not also updating an entire customer database...The ISOGG tree is aimed at geneticists and advanced users who want to know the most up-to-date discoveries," Alice explains. "When comparing Y-DNA results, customers of FTDNA should compare using the FTDNA haplotree to make sure they are referring to the same system." [Updated for clarification - 11/10/11.]
• Academic researchers/scientists are utilizing the ISOGG Y-tree.
The ISOGG Y-DNA SNP Index has links to academic papers.

Michael Hammer discussed contributions of Neandertals and other species to our genome:
Bennett said that the purpose of this lecture is to present "in a simple way some of the genetic science that has been discovered since earlier conferences." It was fascinating!
• Humans and chimps are 98.8% identical in their DNA
• Our species had at least 15 cousins. Only we remain.
• "We (academics) have trouble keeping up with you (genetic genealogists)...After a couple of years (of attending the FTDNA conferences), you knew more than I did (re: genealogical applications of genetics)."
• Reviewed the Multi-Regional Evolution (Gene Flow) and Recent African Replacement theories.
• "We can now refute the African Replacement Theory with evidence found in the last year."
• The immunity gene STAT2 is the first clear example of interbreeding advantage. It introgressed from Neandertal and is positively selected in Melanesians.
• Neandertal + Denisovan = ~8% of modern Melanesian genome. Chr 12 introgressed in Melanesians with a Denisova-like region.
• Modern Africans contain a small portion of genetic material (~2%) that introgressed from an archaic population that split from the ancestors of AMH ~700 kya
• Distribution of 3 introgressive haplotypes on Chr 4, 18, 13 suggest recent interbreeding with a now extinct form in Africa.
• Some question whether the Denisovans are really archaic or modern with archaic DNA.
Neandertal sequence shares more variants with present day non-Africans than Africans. (Green 2010) 
• Family Finder looks at one base in many, so it is not the test to use to look for Neandertal DNA.
• Geneticists are still looking for Neandertal mtDNA and Y-DNA.
• A "psuedogene" is one that has lost its function over time. 

Dr. Michael Hammer gave an excellent summary of hominid research in regard to the paleontological record and summarized what has been discovered in terms of mtDNA, Y and autosomal DNA research, including a discussion of interbreeding between Neanderthals and humans in the Middle East and interbreeding between Denisovans and humans in SE Asia. [TJ]

Elliott Greenspan told us about the IT Roadmap:
• In 2010, FTDNA processed 250 Terabytes of matching DNA. In 2011 they have processes almost 9x more at 2.33 Petabytes.  
• Releasing a new version of personal pages- MyFTDNA 2.0, including profile pages, interactive tour, advanced matching (power search) and other features.
• FTDNA will now allow partial payments through personal page for tests on order.
• New messaging system through FTDNA site to users.
• Adding resources for learning to site, such as mtDNA and Y-DNA home pages and section pages explaining tests.
• Family Finder redesign showing more info for matches i.e.- other tests taken, saved notes, link to personal profile page, etc...
• Personal profiles will have a customizable "about me" section including haplogroups, ancestry, photos, etc...
• There will be profile links for all matches - FF, Y-DNA and mtDNA
• New advanced matching/power search combines the power of all three types of tests - will compare FF, mtDNA and Y-DNA matches for commonality.
• FTDNA will be moving to an event-based model rather than the straight genetic distance model. Palindromic matching will be taken into account - nulls, deletions, insertions will be counted as only one step.
• FTDNA will display micro-alleles in GAP charts and incorporate them into matching. For all who have tested since 2001, the micro-alleles have been recorded at Michael Hammer's lab and will now be reported.
• The "in common with" feature on Family Finder is only allowed with confirmed relationships due to privacy concerns.
• Admins will be testing out the new MyFTDNA 2.0 on Tuesday, before users have access.
• FTDNA will handle no-calls from 23andMe v3 uploads the same way as FTDNA's (ignore them).
• Next update of the FTDNA SNP Tree will be March 2012.
• Build 37 will have new SNPs and fewer false positions. 
STR values will adhere to the NIST standards as of the next update. [TJ]
• FTDNA's IT staff is open to ideas for phone and tablet apps.
The Illumina autosomal data for people who have done the Family Finder test will include about 3000 more SNPs in the next update after the conversion to Build 37 of the Human Reference Sequence. Family Finder will also have an advanced matching feature in which you can look for FF matches who also are mtDNA or Y STR matches with you. [TJ]
• FTDNA will not be supporting a single sign-in for multiple kits for now. They hope to do so in the coming year. 
• According to Michael Hammer, the likelihood of a genealogical relationship for a "match" with differences beyond seven in a 67 marker Y-DNA test are too small to allow 60/67 matches to show on user pages.
• There will be discounted prices for 23andMe v2 customers who would like to purchase Family Finder.
• Full sequence mtDNA uploads from other companies will not be allowed to be transferred into FTDNA at this time due to potential pollution of the database. FTDNA wants to "protect the integrity" of their database. They will consider it in the future if they can do cross-checks to assure that the transferred data is of good quality.

Peter Biggins and the DNA of the Three Collas:
Peter gave a thorough review of the FTDNA Clan CollaNull 425 Project. This clan is thought to have descended from the 3 Colla brothers who lived ca 400 AD in Ireland. There are quite a few different Irish surnames in this group. All members of this project are R-L21+ and every member who has tested has also been discovered to be R-DF21+. [TJ]

Jessica Roberts, JD discussed potential legal uses of DNA for immigration and refugee/asylum claims. (I am not going to post my notes because I don't feel they are relevant to the genetic genealogy community's interests.)

Steven Morse spoke some more about his One-Step Webpages, including those on DNA.

Dick Hill, the DNA Testing Adviser, regaled us with tales from his "Adoptee's Journey to His Ancestral Surname" and described the different DNA tests he utilized in his search:
• During the introduction Max stated that 30%-40% of male adoptees find their likely surname in FTDNA's database. 
• Dick recommends that adoptees do a Family Finder test rather than a siblingship test.   
• Dick Hill gave a heartwarming presentation describing how he discovered the identity of his biological parents over a period of many years. A combination of Y-DNA and autosomal DNA testing helped him prove that his biological father was a Mr. Doug Richards. [TJ]

Dick's presentation was funny, informative, well-delivered and thoroughly enjoyable. I won't ruin it for you by posting my notes. Consider inviting him to speak about DNA testing at your local family history group. He can be contacted through his website linked above.

Closing Panel:
FTDNA doesn't have any plans to incorporate 23andMe's mtDNA or Y chromosome SNP data into their database at this time. [TJ]
• FTDNA doesn't have plans in the immediate future to upgrade Ysearch so that it will allow the display of 111 markers. Ysearch is currently a lower priority item for FTDNA. [TJ]
• Bennett Greenspan mentioned that FTDNA is working on developing an X chromosome browser. [TJ]
• Upcoming holiday sale at FTDNA. Watch for it here!

Thanks to FTDNA and all of their wonderful project administrators, it was an enjoyable, informative and exhausting weekend. I can't wait for next year. I hope to see you all there!

*If you haven't read about Day One, you can find it here.

[Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I receive no other compensation in relation to any of the companies or products referenced in my blog.] 

Tuesday, November 8, 2011

Debbie Kennett's "DNA and Social Networking: A Guide to Genealogy in the 21st Century"

One of the few imaginable pleasures of being crowded in the middle seat of the last row of the coach section of a completely packed airplane on the way back from the FTDNA Conference in Houston is having the time to read Debbie Kennett's new book "DNA and Social Networking: A Guide to Genealogy in the 21st Century" published by The History Press. When the renowned Chris Pomery writes in the foreword, "This is a book that has been waiting to be written, and Debbie is the right person to write it", those aren't just empty words. The genetic genealogy community is sorely lacking in publications with updated information on DNA testing and there are few with more knowledge on the subject than Debbie.


Fortunately for all genealogists, this book is an easy read, while still being exceptionally informative. Debbie splits her time equally between two genealogy subjects of which she has expertise: DNA testing and social networking. She is very thorough and systematic in her coverage, yet never tedious, holding my interest until the very last page. I can imagine genealogists using this comprehensive book as a reference long after they have read it cover to cover. It would take a substantial amount of time just to investigate the many valuable links contained in the body of the book and the extensive appendices.

Of special interest to me, Debbie spends eighteen pages discussing the subject of autosomal DNA testing. To my knowledge, this is the first book to address this complex subject since both 23andMe and Family Tree DNA began offering autosomal testing for genealogy. Since Debbie has been an active participant in the initial investigations of this new tool for genealogists and is an integral part of the genetic genealogy community, she is fully qualified to explain the subject to the rest of the genealogy world, which she does clearly and intelligently.

Although the book's focus is on the UK reader, the majority of the information presented is applicable to all genealogists. Since both topics are technology based, the subject matter is a fast-moving one with Debbie doing necessary updates right up to the last minute. Although there will inevitably be changes and additions in our industry, I suspect the lion's share of this book and its chief tenets will stay relevant for years to come.

Very often I am asked for my recommendation on an up-to-date book about genetic genealogy and autosomal DNA. I am happy to report that I finally have found one that I can highly recommend!

The tires roughly hitting the tarmac at Orange County Airport jolted me into the grim reality of having just spent three and a half hours crammed in the back of an oversold jetliner. I have Debbie to thank for making the flight, nevertheless, an enjoyable one.

Debbie Kennett's "DNA and Social Networking" will be available November 28. It can be ordered from Amazon. (Listen to an interview with Debbie here.)

Click to enlarge

Monday, November 7, 2011

Family Tree DNA's 7th International Conference on Genetic Genealogy- Day One

I just arrived home from a whirlwind weekend in Houston attending FTDNA's 7th International Conference on Genetic Genealogy. I saw lots of friends, had many interesting conversations and thoroughly enjoyed all of the presentations. There's nothing like a full weekend completely immersed in my favorite subject - DNA!

I will attempt to summarize here the news and interesting tidbits from the conference using my notes. (I was writing fast, so please comment if something doesn't make sense or needs clarification.) I have added Tim Janzen's comments below. [TJ]

DAY ONE

Opening Remarks:
• FTDNA has the largest collection of full mitochondrial sequences in the world.
• FTDNA and Archives.com have entered into a partnership to integrate resources on the FTDNA website to facilitate family tree uploads and research.
• FTDNA has tested 600,000 people to date.
• John Spottiswood told us that Archives.com, through a partnership with Family Search, will offer the 1940 census images April 2, 2012. They will have the index done by the end of 2012, shooting for October. 6.5 million dollars have been invested in new records. They have 400,000 active subscribers. Archives.com has 18 of the top 20 collections at Ancestry.  All conference attendees received a free 1 year+ membership to Archives. com. It is regularly $39.95 per year.

Spencer Wells and News from The Genographic Project:
• They are wrapping up Phase 1 of The Genographic Project by the end of next year and beginning Phase 2, which is leveraging the resources gathered from Phase 1.
• The Genographic Project has collected 75,000 samples from indigenous  peoples in more than 130 countries from ~1000 populations.
• The majority of Canadian native tribes refused to DNA test. As a result, the project still does not have adequate sample coverage of the indigenous peoples of North America. South America is better.
• The National Genographic Project sold 10,000 kits the first day and 100,000 kits in the first 8 months with over 415,000 kits sold worldwide to date.
• The Project has raised 3 million dollars for it's Legacy Fund and given away 1.5 million dollars of that so far, funding 52 grants currently with ten more being funded in the next couple of weeks.
• Two papers on Basque DNA are coming out this week. One is on full mtDNA sequences and one is on Y-DNA. "Tracks pre-Roman tribal culture".
• We are losing a language in the world every two weeks!
• Until recently there was no genetic evidence of Asian impact on Hungarian DNA. The Project is now seeing 2%-3% Asian haplogroups in both mtDNA and Y-DNA in the 2334 Hungarian samples from the public. (Originally only sampled 100 indigenous Hungarians.) [Tim Janzen notes that it was, more specifically, 3% of the Y-DNA and 2% of the mtDNA.]
• DNA evidence is showing that the Indian caste system is older than Indo-European influence. (paper)
• They are doing things with ancient DNA that 10 years ago was impossible, that they "wouldn't have dreamed of doing".
• A paper is coming next year on ancient DNA research "transecting time", including information on farmers replacing hunter gatherers in Central Germany and mtDNA Haplogroup U5, which Spencer called "the hunter-gatherer haplogroup". They found different frequencies of haplogroups from samples at different layers. He says that the debate about the age of R1b has not yet been resolved. Spencer commented that outstanding issues about STR mutation rates is "not helping" and that we still "have to figure out Y-STR mutation rates."
• There is a correlation between linguistic dates and genealogical dates. Dr. Wells feels that he evolutionary rate overestimates these. He stated that the genealogical rates are more accurate over relatively short time spans and the evolutionary rate works better for deeper time spans.
• 1 in 17 men now living in the Mediterranean descend from Phoenician traders.
• 2000 Caucasus language speakers were sampled, finding a "remarkable concordance between genetic contrasts and language groups."
• The Project is starting to look at autosomal DNA. They are first looking at the X-Chromosome as a new genetic marker. They are using the pattern of recombination to infer history called "Theory of Junctions." (paper)
• Over 100,000 of the Genographic participants have converted their results to FTDNA.
• In Central Asia Y-DNA Haplogroup R1a has a high frequency - 40%-60% in some areas. R1a's frequency is higher in the mountains than in the plains on the same longitude. There is a ring pattern where R1a virtually disappears in the middle. According to Dr. Wells, this "central hole" was probably created by a replacement of R1a by East Asian haplogroups entering through the Dzhungarian gap.
• East Asian expansion corresponds to rivers as borders instead of the mountains.
• East Indians have the most Eurasian diversity.
• The project would like to look at the Australian "song lines" to determine if there is an overlap between where the songs intersect with other tribes and the genes.
• 10 papers are going to journals in the next two weeks with about a dozen more in the pipeline.
• The goal is to get the genetic information collected out to us "citizen scientists" for public participation. Spencer was not able to give a timeline as to when the database will be available.
• A big announcement is due next year from The Genographic Project.

Spencer Wells'  slide, photo courtesy Katherine Borges

Bruce Walsh covered DNA basics, including useful autosomal DNA information:
• Each human cell has 46 chromosomes and multiple copies of mtDNA
• 1 cM =  centi Morgan or a 1% chance of recombination, roughly corresponds to one million DNA base pairs.
• 1st-3rd generations can be estimated simply by the shared percent of DNA. Distant relatives are estimated by the largest block of shared DNA. There is a wide variation expected for the more distant relatives. Odds are that for relatives greater than 5 generations apart (10 total), all shared blocks have been lost.

• For Family Finder:
TMRCA                         Average Size of Blocks
1                                       44.06 cM
2                                       19.15 cM
3                                       12.3 cM
4                                        9.07 cM
5                                        7.19 cM
6                                        5.95 cM
7                                        5.08 cM

• Some autosomal DNA is dominant and will be passed down for a greater number of generations than expected.
• Looking for a common ancestor at 5 cM - 7cM shared blocks is "deep sea fishing". It is not strong evidence. At 7 cM there is about a 50/50 chance that the segment is identical by descent and there is a shared common ancestor in genealogical times. At 10 cM it is safe to assume that there is a common ancestor in genealogical times.
• The male X chromosome is phased since there is only one allele.
• Bruce Walsh discussed phasing and various other topics. FTDNA is exploring the option of phasing data where two parents and at least one child have done the FTDNA's Family Finder test or the 23andMe v3 test and using the phased data to run comparisons against other people in the FF database. The use of phased data in Family Finder would significantly reduce the number of matches that are simply identical by state. [TJ] 

Phasing and Analysis of Family Finder Data from David Pike:
• Phasing is separating the alleles to distinguish which are inherited from each parent.
• David gave us a hands-on demonstration on using a number of his tools for analyzing Family Finder raw data, available here. These include:
  • Search for Runs of Homozygosity (ROHs)
  • Search for Heterozygous Sequences
  • Search for Shared DNA Strands in Two Raw Data Files
  • Inspect a Shared DNA Strand in Two Raw Data Files
  • Inspect Shared DNA Strands in a Trio of Raw Data Files
  • Search for Discordant SNPs in Parent-Child Raw Data Files
  • Search for Discordant SNPs when given data for child and both parents
  • Search for Differently Reported SNPs
  • Phase a Child when given data for child and both parents
  • Phase Siblings with Data from One Parent
  • Phase Siblings with Data from Both Parents
• Parents' DNA can be phased if you have enough data from their children. David is working on reconstructing his grandparents DNA!
• A deceased parent's genomic data can be reconstructed from testing the other parent and the children.
• Cousins' data can also be utilized to help phase portions of relatives' genome.
• In particular, I enjoyed his discussion of microdeletions of autosomal DNA segments, which
can generally found by checking for discordant data. [TJ]
Very enthusiastic presentation!

Thomas Krahn and News from Walk Through The Y:
• 366 participants, 125.8 million basepairs sequenced, 180,000 bp average coverage per participant, 450 undocumented new Y-SNPs have been found, 167 participants did not find a new SNP.
• 90% of participants have chosen their results be public on the Finch2 platform.
• Very advanced customers have mined the data from the 1000 Genomes Project and extracted new SNP candidates (Z series), suggesting promising markers and helping to design the primers.
• Covered new features on the draft tree.
• Currently 350k-400k base pairs for Walk Through The Y, 20 times more data via the new Roche 454 - ran Saturday night. 
• Thomas Krahn summarized the latest Roche 454 sequencer Y chromosome sequencing results. He is doing Y chromosome enrichment of the DNA prior to sequencing so that he can maximize the Y chromosome sequence data from each sequencing run. In his latest run he tested 8 samples, but only 2 came out reasonably well. He plans to reduce the number of beads he uses in the sequencer and he hopes that will improve the quality of his data. In the latest experiment he got about 19,000 reads from one sample, of which about 48% of the reads were from the Y chromosome after Y enrichment. The average read length was in the 400-600 base pair range. Thomas plans to put the latest sequencing results on his FTP server as a downloadable file of about 300 million megabytes of data for Y SNP hunters to review. Thomas plans to continue to work on Y sequencing until he can perfect the sequencing. Thomas said that there are about 20 million base pairs on the Y that are worthwhile sequencing. The first 2 million base pairs on the p arm are pseudoautosomal and thus aren't helpful from a Y SNP search prospective. The palindromic regions also generally don't have many
Y SNPs. The new 454 sequencer will allow about 20 times as many bases to be sequenced as can be done with the WTY project currently. Now the WTY results generally include about 400,000 base pairs. Thus Thomas anticipates at least 6-8 million base pairs of the Y chromosome can be sequenced with the new 454 sequencer in the short term and hopefully about 20 million base pairs can be sequenced in the long term. [TJ]


Thanks to Dr. Krahn, the full presentation is available here. The download is near the bottom and called "Walk Through The Y - Update 2011". 

Peter Hrechdakian and Findings from the Armenian DNA Project:
• Tested over 600 Armenians since 2009 in the Armenian DNA Project.
•Armenians are very diverse with 14 major Y-DNA haplogroups, 80 distinct Y-DNA subclades and 13  major mtDNA Haplogroups with 67 subclades.
• Armenians and Assyrians have very similar YDNA and mtDNA distribution patterns.
• There have been 13 Armenian Walk Through The Y participants so far. New SNPs have been found in 10 of them.
• Please visit the Houshamadyan Project website. This project is attempting to reconstruct Ottoman Armenian town and village life.

Peter Hrechdakian's slide, Photo courtesy Katherine Borges
• Peter Hrechdakian gave an overview of the very important Armenian project, which now has over 600 people in it. Armenia and the nearby regions in the Caucasus are the cradle of many Y haplogroups and thus additional testing of people from this region is very important. Peter's presentation included many excellent diagrams and graphs summarizing the mtDNA, Y, and autosomal data from the Armenian project. [TJ]

Stephen Morse spoke explained how to use his One Step Webpages.
Dr. Stephen Morse discussed many of the "one step" tools that he has available on his web site at www.stevemorse.org. It had been some years since I had last visited his web site and I was pleased to learn that he has added some DNA tools to his web site, including a genetic distance calculator. Some other web sites he mentioned that can be helpful for finding living people include www.PrivateEye.com and www.ZabaSearch.com. [TJ]

Question and Answer Panel:
• Julie Hill walked us through the Archives.com site.
• Instead of importing Gedcoms to FTDNA, users will be able to link through to their live family tree on Archives.com.
• In November/December 2008, FTDNA started advertising on Facebook, offering 12 markers for $59. They sold ZERO tests from these ads.
• In October 2010, FTDNA started a Facebook page. They have had their biggest ever promotions there and have ~16,000 "likes". Facebook users are now regularly demanding promotions.
• Bennett - "23andMe raw data uploads will be coming in the next 4-6 weeks for about $50." (v3 only)
• Sometime next year all Genographic Project samples will be destroyed in line with their original terms if not transferred to FTDNA. It will take about a year to destroy them all. The Genographic Project has made the FTDNA logo larger and larger on the bottom of their page, but they cannot directly contact participants due to their anonymous collection method.
• FTDNA is considering extending sample storage form 25 to 50 years.
• FTDNA will have some presentations from the conference available for download.
• FTDNA has tested samples for Family Finder that were up to 8 years old. Some have worked, some have not. The Illumina chip is much more robust than the Affy chip was with a 99% success rate the first time a sample is run. Bennett "would be more on the liberal side about trying old samples than 6-8 months ago".
• FTDNA will allow uploads of Ancestry.com autosomal data, but will not provide customer support for it.
• Recommended reading: "The Great Human Diaspora" by Cavalli-Sforza.
• Archives.com does not yet have searchable family trees or the New York passenger lists. They are working on adding these.

You can find Day Two here.

[Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I receive no other compensation in relation to any of the companies or products referenced in my blog.] 

Tuesday, November 1, 2011

More Details on Ancestry.com's New Autosomal DNA Test Offering

Ancestry.com recently offered a chance for 2,000 subscribers who had previously ordered DNA tests through AncestryDNA to upgrade to their autosomal DNA test using their stored DNA sample. I wrote about the details back in early October. Now, it appears that they are offering the opportunity to 10,000 more "selected" Ancestry.com subscribers (apparently chosen from among those who have manually uploaded DNA results to their site) to submit their DNA for the cost of shipping only. The following email was sent out today (links removed so I don't "compromise the promotion" as they warn in the fine print):

Discover your genetic ethnicity and find family connections with AncestryDNA.

Dear Subscriber,
We have some exciting news about our new AncestryDNA service and we want you to be part of it. Over the past year we've worked with industry experts and applied the latest science and technology to make it possible for you to discover your genetic ethnicity and increase your chances of connecting with possible relatives through your DNA. Now we're offering select Ancestry.com members like you the exclusive chance to get this new service for free before it's available to the public (shipping and processing not included).* Be one of the first 10,000 to order by Sunday, November 6th and receive your AncestryDNA test for FREE (only $9.95 for shipping and processing). It's this simple: Order our DNA test by November 6, 2011. Receive a DNA collection kit in the mail. Follow the simple steps to collect your DNA. Mail in your DNA before November 30, 2011. Receive your results in early 2012.

What will you get?
A breakdown of your genetic ethnicity -See the mix of ethnicities found in the 700,000 DNA markers we test and see how they relate to your family tree.
New family connections -Discover new relatives with DNA matching. Increase your chances of overcoming brick walls, confirming family relationships and finding common ancestors. 
Enhanced, easy-to-use web tools - Use your results and the power of Ancestry.com to make new discoveries and solve family mysteries.

Order now. We hope you take this opportunity to be a part of the launch of our new service and become one of the first to discover how much AncestryDNA can tell you about your family history.
Sincerely,
The AncestryDNA Team

Questions? Please contact us at memberservices@ancestrydna.com.

*Offer valid in the United States only. You must be a current Ancestry.com subscriber, be one of the first 10,000 to complete the orderprocess before November 6, 2011 and pay the $9.95 fee for shipping and processing (expedited shipping in not available with this offer). Local taxes may apply. AncestryDNA reserves the right to refuse receipt of any sample postmarked after Nov. 30, 2011. Limit one (1) per customer. No refunds or replacements can be made once orders are submitted. AncestryDNA reserves the right to cancel or modify this offer should the promotion be compromised in any manner. Offer ends November 6, 2011 at midnight PT.

This is very exciting. According to the above email, Ancestry.com's database will launch with at least 10,000 unique genomic scans, testing over 700,000 SNPs. If the 10,000 does not include the 2,000 who were already invited to sign up in October during the first offer, the database will contain approximately 12,000 genealogy-minded participants from inception. The test will reportedly be offered for purchase to the general public in early 2012. I can hardly wait until the results start rolling in!

[**Update - According to AncestryDNA customer service, as of the morning of November 3rd, all 10,000 spots have been filled.]

Related Posts:
Ancestry.com Venturing into Autosomal DNA Testing? - 10/6/11
Update on New Autosomal DNA Test from Ancestry.com - 1/26/12

Ancestry.com DNA testing - Get the first look here.