At “mygenotype” you can download the following:

My Family Tree DNA Results:

1. Affymetrix Autosomal DNA Results (2010)
2. Affymetrix X-Chromosome DNA Results (2010)
3. Illumina Autosomal DNA Results (2011)
4. Illumina X-Chromosome DNA Results (2011)

My 23andMe Results:

1. V2 Results (2008)
2. V3 Results (2010)
3. Y-DNA Results (2010)
4. mtDNA Results (2010)

You can also find my SNPedia Promethease reports:

• Promethease Report using an early version of Affymetrix Family Finder DNA Results

• Promethease Report using V2 23andMe DNA Results

• Promethease Report using pooled 23andMe and Family Finder DNA Results

In addition to my genome, Razib Khan of Gene Expression has a spreadsheet of approximately 48 other genomes that are available for download online.

A Challenge To YOU

Now that the information is out there, available to anyone who might be interested, it remains to be seen who might be interested in the information.

Indeed, as evidenced by Razib’s spreadsheet, while dedicating a genome to the public domain has only been done by a small handful of people worldwide, it isn’t as novel as it was just a few months ago.

So, I’m challenging everyone who reads this to download my data and analyze it to find the most interesting or surprising results.  For example, you could use my most recent 23andMe V3 data.

I’ve already done a fair amount of analysis myself, including the Promethease reports above (and see here), and a recent blog post about my vastly increased Type 2 Diabetes risk.  However, perhaps there’s a recent but relatively study that applies, or perhaps there’s a story you can weave with a handful of SNPs. Or, even better, what can you tell me about my ancestry other than mtDNA and Y-DNA haplogroups? Don’t worry about the strength of the study, reproducibility, etc. – I’m aware of the uncertainties associated with this type of research, and my goal here is to make people aware of possibilities.

Please post your findings in the comments below, and in two weeks I’ll pick the most surprising or interesting findings and make them the focus of a new blog post.

Can you surprise me with my own genome?

Daniel Vorhaus of the Genomics Law Report is also a member of the steering committee of the GET (“Genomes, Environments, Traits) Conference 2010. This unique conference, to be held on Tuesday, April 27, 2010 will gather together some of the biggest names in personal genomics, as well as most of the limited number of the people who have released their entire genomes to the public. Tickets for the conference go on sale today here.

As part of the GET Conference 2010, the new BioWeatherMap initiative will officially launch. According to the project’s website, BioWeatherMap is “a global, grassroots, distributed environmental sensing effort aimed at answering some very basic questions about the geographic and temporal distribution patterns of microbial life. Utilizing the power of high-throughput, low cost DNA sequencing and harnessing the drive of an enlightened public we propose a new collaborative research approach aimed at generating a steady stream of environmental samples from many geographic locations to produce high quality data for ongoing discovery and surveillance.”

Unfortunately I will be unable to attend the GET Conference 2010, although I’m sure I and anyone else interested in the Conference will all be able to participate in at least a limited manner through social media.

The Press Release

Personal Genome Pioneers to Convene at the Inaugural Genomes Environments Traits (GET) Conference: Luminaries at landmark gathering to shed light on diverse impact large-scale personal genome sequencing will have on everyday life

BOSTON, Mass. (February 18, 2010) — Worldwide fewer than 20 individuals have had their genomes sequenced and made publicly available, and on Tuesday, April 27, for the first time, nearly all of them will appear together, along with a select group of business leaders and scientific visionaries, to share their experiences and to provide a look ahead at how personal genomics will rapidly and broadly impact society. This historic gathering will take place at the inaugural Genomes Environments Traits (GET) Conference as part of a day-long thought leadership forum, exploring the myriad ways in which the integration of personalized genomic, environmental and trait information will shape the ways in which we access and interact with our genetic information.

“The GET Conference 2010 marks the last opportunity in history to gather a majority of individuals in the world with public personal genome sequences in a single venue,” says George Church, founder and principal investigator of the Personal Genome Project and professor of genetics at Harvard Medical School. “With rapid advances in technology, the number of individuals with personal genome sequences is expected to rise dramatically, from dozens today to thousands by 2011 and a million or more individuals within the next few years.”

The morning portion of GET Conference 2010 will feature wide-ranging discussions during which personal genome pioneers and globally recognized leaders of genomic science and industry, including Misha Angrist, George Church, Jay Flatley, Henry Louis Gates, Jr., Rosalynn Gill, Seong-Jin Kim, Greg Lucier, James Lupski, Stephen Quake, Dan Stoicescu and James Watson, will share their experiences and discuss the future of personal genomics. Award-winning science journalists Carl Zimmer and Robert Krulwich will moderate the discussions.

These experts will re-convene in the afternoon for a series of breakout sessions with other thought leaders and conference participants in a series of intimate discussions focused on the role personal genomes play in understanding ancestry, family life, nutrition, and disease risk, as well as the marketplace for products and services that utilize the analysis of genomic and environmental information, including new drug therapies, consumer products and law enforcement applications.

The afternoon program will additionally showcase:

• Four “prototypes of the future” sessions highlighting the next generation of personalized genomic products, services and activities and moderated by the executive editor of WIRED and author, Thomas Goetz.

• The public debut of the BioWeatherMap initiative, a collaboration between scientists and the public using next-generation sequencing platforms to address the fundamental question: “How diverse is the microbial life around us and how can we use that information to our advantage?”

The GET Conference 2010 will take place on Tuesday, April 27, 2010 from 8:00 a.m. – 8:00 p.m. at the Microsoft New England Research and Development Center in Cambridge, Mass. The event will be limited to 200 registrants. To register for the GET Conference 2010, visit http://www.getconference.eventbrite.com/.

About the GET Conference 2010

The first annual GET Conference will gather 200 scientific, industry and thought leaders in the fields of personal genomics, personalized medicine, microbiomics and systems biology, as well as prominent hedge fund managers, VCs, private investors, and philanthropists, in an intimate venue to consider the present and future of personal genomics.

All proceeds from the GET Conference will benefit PersonalGenomes.org, a 501(c)(3) charitable organization which supports the Personal Genome Project and whose mission is to serve as a global ambassador for emerging technologies and knowledge that will positively impact the health and well-being of humankind. For more information, visit www.getconference.org, or e-mail info@getconference.org.

Conference sponsors include: Alan & Priscilla Oppenheimer Foundation; Knome; Life Technologies; Microsoft; OHO Interactive; Procter & Gamble; Robinson, Bradshaw, & Hinson; Schwartz Communications; and Third Rock Ventures. Limited sponsorship opportunities are still available. For more information email: info@getconference.org.

About the Personal Genome Project

The Personal Genome Project is an open-ended research study that aims to improve the understanding of genetic and environmental contributions to human traits. The project is currently enrolling members of the public who are willing to share their genome sequence and other personal information with the scientific community and the general public. For more information, visit http://www.personalgenomes.org/.

• ISOGG, the International Society of Genetic Genealogy, has a new information page at “I’ve Tested at 23andMe, Now What?“  The site includes a variety of tools to help you further explore your ancestry, including EURO-DNA-CALC and Promethease, among others.

• Family Tree DNA has a new Holiday Sale, as summarized at the U4 Haplogroup website.  The FTDNA ordering page also has the holiday prices.

• Linda Avey, co-founder of 23andMe, has started a new blog entitled The Life & Times of Lilly Mendel.  I’m looking forward to some interesting reading as Linda establishes the Brainstorm Research Foundation dedicated to the study of Alzheimer’s disease.

• The Genomics Law Report continues the fascinating What ELSI is New? series, including a contribution from yours truly.

Relative Finder

As I recently wrote, Relative Finder is a feature at 23andMe that allows users to compare their autosomal DNA to the autosomal DNA of others to potentially find cousins.  This has long been done with Y-DNA and mtDNA, but this is one of the first times this has been done with autosomal DNA.

Success Story #1

The first success story is from someone who used Relative Finder to identify a huge number of potential cousins.  After connecting one of his or her potential 4th cousins, the individuals discovered that they have similar surnames from a certain location in common (in addition to DNA on chromosomes 3 and 10).  This individual also wisely noted that s/he now has “a good idea of the path that two of my DNA segments took through my pedigree to get to me.”  This is something I wrote about recently in “The Future of Genetic Genealogy – Tracing DNA To Individual Ancestors.”

Success Story #2 – A First?

The second success story is about two Relative Finder users who worked together to identify a line that they had in common, potentially identifying segments of DNA passed to them from a couple who were born in the 1730’s.  This is a very interesting result, and I wonder if it is the first time that genealogists have identified a segment of DNA that they inherited from distant autosomal ancestors (i.e. not their Y-DNA or mtDNA lines) outside of the medical realm.

Conclusion

I know I’ve mentioned this a great deal lately, but I again emphasize that geneticists and genealogists will be seeing much more of this type of success story in the future.

The Results Are In

Shortly thereafter, Mr. Kyle took a 67-marker test from Family Tree DNA.  The results, announced it seems by Kimberly Powell of Kimberly’s Genealogy Blog, suggest that his surname might actually be POWELL or a variant thereof.  His results are now part of the Powell Surname DNA Project as kit #140314 where he very closely matches the “Joseph Powell Group.”  See more here.  From Kimberly’s post:

A 50/60 year old amnesia victim going by the name of Benjaman Kyle recently had his Y-DNA tested in an attempt to learn something about his origins; resulting in a close 37 marker connection with several members of the POWELL Surname DNA surname project at FamilyTreeDNA. Interestingly, just like the Unclaimed Persons Web site, founded by Megan Smolenyak, which brings together genealogists with medical examiners, coroners, and investigators searching for next of kin of recently deceased individuals, amnesia victims also have groups of volunteers who help try to reunite them with family. You can read more of the discussion on Benjaman Kyle at WebSleuths.com, which is where using genealogy as a possible tool was suggested.

The Indianapolis Star ran a story last month – Man with Amnesia Still Searching for his Past – that mentioned the DNA testing but failed to mention the potential POWELL link.

Proof?

This isn’t proof that Benjaman’s last name before he suffered from amnesia was Powell.  He might have legally changed his name, or there might have been some other non-paternal event that introduced the Y-DNA into the family (infidelity, adoption, etc…) such that Benjaman possessed the [potentially] Powell Y-DNA at birth but did not have the Powell surname.  In any event, this is a new clue that might help Mr. Kyle rediscover his identity.

A New Privacy Study

In “Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project,” author Jane Gitschier uses a combination of FamilySearch (http://www.familysearch.org) and Sorenson Molecular Genealogy Foundation (http://www.smgf.org/) to elucidate the Y-chromosome signature of two founders of the LDS Church.  Gitschier then used that information to determine whether anyone who contributed DNA to the HapMap project was related to these individuals via the Y-chromosome (none appeared to be).  However, Gitschier was able to predict the surname of many of the HapMap participants using these databases.

This research is related to two posts I wrote last October about using genetic genealogy results to determine surnames (“DNA Could Reveal Your Surname, Of Course,” and “More On Revealing Surnames Using Genetic Genealogy”).  I first mentioned this research last September when I highlighted some of the most interesting abstracts submitted for the American Society of Human Genetics’ November meeting (see here).

The Abstract:

“One concern in human genetics research is maintaining the privacy of study participants. The growth in genealogical registries may contribute to loss of privacy, given that genotypic information is accessible online to facilitate discovery of genetic relationships. Through iterative use of two such web archives, FamilySearch and Sorenson Molecular Genealogy Foundation, I was able to discern the likely haplotypes for the Y chromosomes of two men, Joseph Smith and Brigham Young, who were instrumental in the founding of the Latter-Day Saints Church. I then determined whether any of the Utahns who contributed to the HapMap project (the “CEU” set) is related to either man, on the basis of haplotype analysis of the Y chromosome. Although none of the CEU contributors appear to be a male-line relative, I discovered that predictions could be made for the surnames of the CEU participants by a similar process. For 20 of the 30 unrelated CEU samples, at least one exact match was revealed, and for 17 of these, a potential ancestor from Utah or a neighboring state could be identified. For the remaining ten samples, a match was nearly perfect, typically deviating by only one marker repeat unit. The same query performed in two other large databases revealed fewer individual matches and helped to clarify which surname predictions are more likely to be correct. Because large data sets of genotypes from both consenting research subjects and individuals pursuing genetic genealogy will be accessible online, this type of triangulation between databases may compromise the privacy of research subjects.”

It seems my prediction might not have been too far off.  This week, Family Tree DNA issued a press release stating that the company had recently received an order for the 500,000th testing kit.

FTDNA’s Press Release:

HOUSTON, February 9, 2009 (For Immediate Release) – Family Tree DNA (http://www.familytreedna.com), the world leader in genetic genealogy, announced today that it received its 500,000^th DNA test order for genealogy and anthropology purposes.

This number of historic significance includes Family Tree DNA’s own customers as well as the public participation samples in National Geographic and IBM‘s Genographic Project (www.nationalgeographic.com/genographic), which are also processed by Family Tree DNA.

Founded in April 2000, Family Tree DNA was the first company to develop the commercial application of DNA testing for genealogical purposes that had previously been available only for academic and scientific research. Almost a decade later, the Houston-based company continues to establish standards and create new milestones in the increasingly popular and rapidly growing field of genetic genealogy, whereas other companies have came to the market space looking for the business opportunity, but offering tests of lesser value.

Presenting the most popular and wide-ranging DNA-testing service in the field of genetic genealogy, Family Tree DNA prides itself on its commitment to the practice of solid, ethical science. Family Tree DNA is the only company that provides all customers with a guaranteed assignment of ancestral origins and places their records in our secured database – the largest in the world for matching purposes, which in turn means increased chances of finding long lost relatives. In that regard, Family Tree DNA is an important resource for the three million people in the United States who either were adopted or descend from adoptees.

Since its inception, Family Tree DNA has been associated with the Genomics Analysis and Technology Core at the University of Arizona as well as some of the world’s leading authorities in the fields of Genetics and Anthropology. In 2006 Family Tree DNA established the state-of-the-art Genomics Research Center at its headquarters in Houston, Texas, where it currently performs R&D and processes over 200 types of advanced DNA tests for its customers.

Family Tree DNA currently has representative offices in Europe and the Middle East.

23andMe and mondoBIOTECH announced at Davos (the World Economic Forum in Switzerland) today that they will work together to further the study of rare diseases.  According to the press release (below), mondoBIOTECH will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Service™.  Researchers will use the information collected to learn more about the potential causes of these rare diseases.

CNBC Video:

Linda Avey appeared on CNBC this morning to discuss the company and the partnership – see “It’s All in the Genes.”

The Press Release:

Davos, Switzerland – January 28^th 2009 – 23andMe, Inc., an industry leader in personal genetics, and Mondobiotech AG, a Swiss research company dedicated to the development of treatments for rare diseases, today announced at the World Economic Forum in Davos, Switzerland, that they are collaborating to advance research of rare diseases.

The announcement marks the return of the companies to the World Economic Forum, where they both were recognized as Technology Pioneers in 2008. 23andMe and Mondobiotech will work together to facilitate research of the genetic bases of rare and potentially fatal diseases, such as Pulmonary Arterial Hypertension, Sarcoidosis, and Pulmonary Fibrosis, the genetics of which are poorly understood. Mondobiotech will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Serviceâ„¢. Researchers then will be able to study the genetic information collected, along with any phenotypic information provided, in clinical trials, to understand potential causes of these diseases. 23andMe will coordinate genome-wide association studies for Mondobiotech affiliates using its research infrastructure and bioinformatics expertise.

The Illumina (NASDAQ: ILMN) DNA Analysis technology used by 23andMe is the world’s leading technology for genome-wide association studies and has the unique capability to include custom markers. This feature enabled 23andMe to select SNPs (single nucleotide polymorphisms), or variants that provide coverage of genes associated with drug response, information that is proving to be critical for the development of personalized medicine. In addition to having over half a million markers available for disease research, these “pharmacogenetic” indicators included in the 23andMe dataset could provide invaluable information for identifying treatment protocols.

“We are eager to take an active role in advancing research of rare genetic disorders,” said Linda Avey, co-founder of 23andMe. “By partnering with our colleagues at Mondobiotech, a company acutely focused in this area, we’ll be able to leverage the genetics and bioinformatics expertise of our science team toward better understanding of these often devastating conditions.”

“For years, we have been working on behalf of neglected and underserved disease communities to help improve the lives of people with rare and fatal diseases,” said Fabio Cavalli, Chief Executive Officer of Mondobiotech. “When we met the founders of 23andMe last year at Davos and saw what they were doing with genetics, we knew that a collaboration between the two companies could go a long way towards understanding the causes of the diseases we have been researching.”

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. 23andMe, Inc., was founded by Linda Avey and Anne Wojcicki in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. Its Series A investors include Genentech, Inc., Google Inc. (NASDAQ: GOOG) and New Enterprise Associates.

More information is available at www.23andme.com.
About Mondobiotech

Mondobiotech is the Swiss open source biotech aiming to improve the health of patients affected by rare diseases. Mondobiotech currently has a product pipeline of more than 300 peptides as treatment options for more than 600 rare diseases. The company licenses out their products to companies, foundations and private persons who are interested in improving the status of affected patients. The company has obtained 6 Orphan Medical Product Designations in Europe and in the US and licensed 7 products to BiogenIdec (NASDAQ: BIIB), InterMune (ITMN), United Therapeutics/LungRx (UTHR). Mondobiotech was selected Technology Pioneer 2008 by the World Economic Forum.

For more details, please visit www.mondobiotech.com.

FTM Media Kit

Randy Seaver at Genea-Musings recently linked to Family Tree Magazine’s 46 page 2009 Media Kit, which contains extensive information about the genealogy market and the Family Tree Magazine audience.  The report is filled with statistics about all facets of genealogy and genealogists, and the author(s) include links to all their primary information.

Genetic Genealogy Market

The report includes the conclusion that 651,600 people have taken a genetic genealogy test, based on my research (see “How Big is the Genetic Genealogy Market?“) from November 2007.  I think that the final number is bigger as of January 2009, probably closer to 750,000-800,000.  Unfortunately, the actual number has become increasingly more difficult to update because genetic genealogy companies are keeping their numbers private (which is probably understandable as the market has changed so much in the past year).  Additionally, I’m not certain how much the 23andMe and deCODEme customers increase my results.

For anyone interested in the genealogy market in general, I highly recommend reading the Media Kit.

From the Press Release:  “Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

To conduct the study, the scientists searched the Sorenson database for Native American mtDNA and then sequenced the entire mtDNA genome of some of the samples.

There is more coverage at Dienekes’ Anthropology Blog and The Spittoon.

The entire Press Release:

SALT LAKE CITY and PAVIA, Italy (Jan. 8, 2009)—Genetic researchers from the Sorenson Molecular Genealogy Foundation (SMGF) in Salt Lake City working with scientists from the University of Pavia in Italy today published a study shedding new light on the puzzling question of why Native Americans exhibited such extraordinary linguistic and cultural diversity when the first Europeans arrived in 1492.

Featured on the cover of Current Biology journal, the striking finding by an international team of researchers challenges the traditional idea that the first groups of humans to colonize the Americas came from a single population source, which would imply one language family, technology and culture, when they crossed an Ice Age land bridge connected to Asia 15-17,000 years ago.

By analyzing for the first time at the highest level of molecular resolution two rare lineages of the maternally inherited mitochondrial DNA (mtDNA) from modern Native Americans, geneticists identified separate migratory paths that marked the initial stages of human colonization. Traveling concurrently, one genetic group of Paleo-Indians followed the Pacific coastline route and arrived at the southern tip of South America, while the second group followed an ice-free corridor east of the Rocky Mountains and settled in the Great Plains and Great Lakes regions.

The evidence that separate groups of people with distinctive genetic roots entered the Americas independently at the same time strongly implies linguistic and cultural differences between them. “The origin of the first Americans is very controversial to archaeologists and even more so to linguists,” said study corresponding author Professor Antonio Torroni, heading the University of Pavia group. “Our genetic study reveals a scenario in which more than one language family could have arrived in the Americas with the earliest Paleo-Indians.” Torroni is a world-renowned population geneticist in the field of mtDNA research and the first to identify the major genetic groups to which 95 percent of Native Americans belong.

In March 2008, the same research team published a study that was the first to compile all known Native American mtDNA sequences into a single genetic tree with branches dated. Results showed almost all modern Native Americans descended from six ancestral founding mothers. They used the built-in molecular clock of DNA to establish the time the first humans moved into the Western Hemisphere, finding a narrow window between 15-17,000 years ago.

For both studies researchers combed the Sorenson database—the world’s largest collection of correlated genetic genealogy information containing DNA collected in more than 170 countries—for mtDNA belonging to Native American lineages. Then, using techniques developed at the University of Pavia, the samples were analyzed using a complete-mtDNA genome approach for the first time.

“Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

Today’s study analyzed two rare genetic groups. D4h3 spread into the Americas along the Pacific coast and, at the same time, X2a migrated inland through an ice-free corridor between the Cordilleran and the Laurentide glaciers. The D4h3 group is rare today in North America, while X2a is found exclusively in the U.S. and Canada, mainly in the Great Lakes and Great Plains regions. The six most common Native American mtDNA lineages are A2, B2, C1b, C1c, C1d and D1.

“This study does not end the debate,” said co-author Dr. Alessandro Achilli, researcher at the University of Pavia and assistant professor at the University of Perugia, “but the implications of our findings are significant. The distinct industries and technologies observed in North American archeological sites might be related to separate genetic groups using different migratory routes rather than being the result of in situ differentiation. Future research will dissect common pan-American lineages into sub-branches, and we do expect distribution of some of these subgroups will parallel that of D4h3 and X2a.”

The study, “Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare MtDNA Haplogroups,” was published online today by Current Biology and will be the cover story for the print version on Jan. 13, 2009.