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Gene Genie #37: Human Genomes Are a Dime a Dozen

image Welcome to the September 14, 2008 edition of Gene Genie!  Bloggers have begun to pick up posting with the end of summer, and it seems like everyday there’s a bunch of new interesting posts about the human genome.

96well at Reportergene presents “Trends in development of reporter genes.”  Reportergene is also looking for bloggers/reporters to join the blog’s community and help create the “main repository of news and tools for reportergenomists.”  See here for more information.

fightingfatigue presents » Have Japanese Researchers Found Diagnostic Tool for ME/CFS? posted at Fighting Fatigue.  According to a study discussed in the article, there might now be a test able to diagnose Chronic Fatigue Syndrome.

Genomes by the Handful

Human genomes are being sequenced by the handful these days.  Knome has recently delivered their first sequenced genomes to customers on 8gb USB drives placed in engraved boxes.  Additionally, news came last week that the first Arab genome had been … Click to read more!

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Interview With Forensic Genealogist Colleen Fitzpatrick, Ph.D.

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Colleen Fitzpatrick, Ph.D. is one of the most recognizable names in the field of forensic genealogy.  She has authored two books entitled Forensic Genealogy and DNA & Genealogy, and continues to make headlines in this fascinating field.  Here is just an excerpt from her biography, located at her website:

“Colleen Fitzpatrick, Ph.D., is the author of two of the best-selling books in genealogy.  Forensic Genealogy has been widely recognized for its innovative forensic science approach to genealogical research.  She has been featured on NPR’s Talk of the Nation radio program (July 2005), and has written cover articles for Internet Genealogy (June 2006), Family Tree Magazine (April 2006) and Family Chronicle (October 2005).  Colleen writes a regular column for Ancestry … Click to read more!

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Interesting News in the World of Genetic Genealogy

Genetic Genealogy

Technology Review, an MIT publication, has an article entitled “Genealogy Gets More Precise: Rapidly growing databases enable a more complete picture of one’s ancestry.“  The article, which is relatively balanced, discusses some of the benefits and challenges associated with genetic genealogy testing.

Also check out the article and video “Mapping Out a Nascent Market” at boston.com, which is directed towards personal genetic companies such as deCODEme, 23andMe, Navigenics, and Knome.

And lastly, scientists have sequenced and recreated the Neanderthal mtDNA genome.  For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon.  The original article is in Cell.  Turns out there are roughly 206 differences between the CRS (the Cambridge Reference Sequence, the mtDNA to which all human mtDNA is compared) and Neanderthal mtDNA; 195 transitions and 11 … Click to read more!

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Are Disease-Causing mtDNA Mutations Common?

image Genetic genealogy has the potential to reveal information about your health (for example, DYS464 can reveal infertility and sequencing of the entire mtDNA genome can reveal mutations that are suspected of being associated with certain disorders).  Although I usually don’t consider this possibility to be serious enough to discourage genetic genealogy testing, I do believe that people should be aware of the possibility before being tested.

A new study in the American Journal of Human Genetics (available here) examined the frequency of ten (potentially) pathogenic mitochondrial point mutations in 3168 neonatal cord blood samples.  Of these samples, a total of 15 (or 1 in 200) harbored one or more of the mutations.

Interestingly, the mtDNA of 12 of the 15 samples were heteroplasmic, … Click to read more!

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TGG Interview Series IX – Ana Oquendo Pabón

image The ninth and final edition of the TGG Interview Series is with Dr. Ana Oquendo Pabón.  Dr. Oquendo Pabón is DNA and Historical advisor to the Lost Colony DNA and Research Group, and is an Administrator or Co-Administrator to numerous DNA projects.  Her bio is can be seen here.

In the following interview, Dr. Oquendo Pabón discusses her introduction to the field of genetic genealogy, her own experiences with genetic testing, and her thoughts about the future of genetic genealogy.  It’s a terrific interview, so read on.

TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Ana Oquendo Pabón: I have been involved in genetic genealogy since very early in 2003. My brother and I have been traditional … Click to read more!

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The Tenth and Final PGP Volunteer is Revealed!

image Thomas Goetz has written another terrific article about genetic testing and the Personal Genome Project.  This article, entitled “The Gene Collector,” appears in Wired Magazine.  The article provides some new information about the PGP, including some of the incredibly detailed phenotype information that will be collected from the next 100,000 volunteers in the project.

The article also reveals the tenth and final participant of the “First 10″, the original 10 volunteers in the PGP.  I wrote about the first nine volunteers in the PGP almost exactly one year ago and noted that the tenth participant had not yet released his or her name.  The Wired article, however, mentions a number of participants including George Church, Esther Dyson, Rosalynn Gill, John Halamka, and Steven Pinker.  Indeed, a check of the … Click to read more!

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A Four-Part Series About Personal Genomics at Condé Nast Portfolio – Are Genetic Tests Really Useful?

iStock_000004876214XSmall Portfolio presents an interesting four-part series by David Ewing Duncan about personal genomics. But before I go on, it is important to realize that this series focuses on personal genomics – analysis of SNPs or sequencing throughout the genome – rather than the much narrower field of genetic genealogy. Although there are some ethical concerns surrounding genetic genealogy, they are not specifically addressed in the series.

Portfolio’s public relations coordinator circulated a summary of the series (I wish I had a PR coordinator!):

In Portfolio.com columnist David Ewing Duncan’s four-part series, “You 2.0,” he assess and compares three major websites recently launched that test a person’s DNA for risk-factors for everything from Alzheimer’s Disease and heart attack to drug addiction, an ability to taste bitterness, and ancestry. Is this information ready for prime time? Can it really predict a healthy person’s medical future? Duncan has been tested by 23andme, deCodeme, and Navigenics, and reports on his sometime contradictory and confusing, sometimes funny, and occasionally enlightening results gleaned from these controversial sites that are attempting to bring genetics directly to the people.

Here are the four parts:

  1. You 2.0: Comparison Shopping For Your Future
  2. You 2.0: I’m Doomed. Or Not.
  3. You 2.0: Recreational DNA and Genetic Voyeurism
  4. You 2.0: Closing the Genetic Gap

Look for David’s Book Later This Summer

According to his website, Duncan is writing a book entitled Experimental Man: One Man’s Intimate Journey Into Himself, Cell by Cell (although I’ve also seen … Click to read more!

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The Latest News About 23andMe

image For new readers of The Genetic Genealogist, 23andMe is a personal genomics company that offers a service to examine more than 600,000 SNPs throughout an individual’s genome. The information is then used to analyze ancestry (using Y-DNA and mtDNA) and to estimate propensity for disease. For much more info about 23andMe and similar companies, look under “Personal Genomics” on my Featured Articles page.

A Contest

Today, 23andMe announced on their blog – The Spittoon – the winner of the company’s first ‘Win Your Genome Contest’. The contest was to describe Lilly Mendel, a publicly available but anonymous profile at 23andMe – based upon her genetic information alone. The winner was Mike Cariaso, who previously created a program that analyzes 23andMe SNP data using the growing SNPedia database.

A New Partnership

In another … Click to read more!

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New Videos for Genetic Genealogists

While conducting some online research the other day, I discovered a series of videos about genetic genealogy by Alastair Greenshields, founder of DNA Heritage. The main page contains 6 videos (shown in the list below) that are broken down into 2 to 8 chapters. Since the videos are broken up into chapters, you can can easily skip to the topics that are the most relevant to you.

  1. Genetic Genealogy Terminology
  2. Genetic Genealogy Defined
  3. Tracing My Genetic Heritage
  4. My Past
  5. Giving DNA
  6. Genetic Genealogy Results

There are many other places to find videos about genetic genealogy. Last April I wrote “Ten Videos For Genetic Genealogists“, although only 8 of them are still available. You can also watch videos about DNA here at TGG’s DNA Channel, courtesy of Roots Television. And lastly, Family Tree DNA has videos available on its website.

To give you a preview of the DNA Heritage videos, the first is embedded … Click to read more!

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Accuracy of Large-Scale Genome Scanning Services

Although the genome scanning services offered by companies such as 23andMe, deCODEme, and SeqWright have been front and center in the press the last few weeks, I’m sure that the following information will not be included in any of the reports.

Comparisons

Two different sources have concluded that the scanning service offered by 23andMe and deCODEme, who use different types of Illumina SNP Chips, are highly reproducible. In January 2008, Ann Turner compared the results of testing at deCODEme and 23andMe, and concluded that of the 560,163 SNPs that overlapped and had a “call” (meaning there was a measurable result), they agreed on 560,128 and disagreed on 35. Ann wrote in January:

In all of [the disagreed calls], one company would make a homozygous call while the other company made a heterozygous call – there were no cases where they made a completely discordant call. All in all, I’d say that is pretty impressive.

The second analysis comes from Antonio C B Oliveira at Longa Vista, a new blog that appears to have been created to present … Click to read more!