4

Y-STR Conversions

The results of a Y-DNA test are either a string of plusses and minuses, or a series of numbers.The plusses and minuses are the result of a SNP (single-nucleotide polymorphism) test and denote the testee’s Haplogroup, while the string of numbers are the result of a STR (short tandem repeat) test and denote the testee’s haplotype.

To learn more one’s haplotype, or to compare it to other’s results, most people enter those results into a database such as Ysearch, Ybase, SMGF, YHRD, or the Y-STR Database.To do this, however, it is sometimes necessary to ‘normalize’ the numbers.For instance, one testing company might find a result of 27 for DYS481 while another finds a result of 23 on the same individual.This is typically due to different sequencing primers used by each company to characterize each particular STR.

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48

Gene Genie #13: Into the Future

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Welcome to edition #13 of the Gene Genie. There were many interesting and exciting submissions for this issue, so I hope you do a little exploring and learn something new about genes, personal genetics, and personalized medicine.

Splicing Genes.Let’s start off with something fun.I don’t know if we’ll ever try to splice our genes with those from famous or successful people, but here’s at least one conversation that might result!

With new genetic discoveries being announced every day, how does one keep up-to-date?Well, luckily we have a few helpful suggestions from our fellow bloggers.Scienceroll gives us 7 Tips: How to be up-to-date in genetics/genomics?And Clinical Cases and Images – Blog adds to the discussion with 6 Tips on Staying Up-to-Date in Genetics (and Any Specialty).

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Mitochondrial Eve and Y-chromosomal Adam

In the past decade, scientists have repeatedly referred to ‘Mitochondrial Eve‘, the (hypothesized) source of mtDNA for all humans alive today.  She is believed to have lived approximately 140,000 years ago in Africa.  There is also ‘Y-chromosomal Adam‘, the (hypothesized) source of every living man’s Y-DNA.  He is also believed to have lived in Africa, but more recently, between 60,000 and 90,000 years ago.  Thus, Mitochondrial Eve and Y-chromsomal Adam were not a couple – they were not the source of all human genetic material on the planet today.  Instead, the terms refer to the founders of all the mtDNA and Y-DNA respectively.

For a wonderful description of some of the genetic behind Mitochondrial Eve and Y-chromsomal Adam, go to “The Questionable Authority“, a blog which is part of Scienceblogs.  While you’re there, be sure to read the comments, where the discussion addresses the time disparity between the two DNA sources (140,000 years ago versus 60-90,000 years ago).

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Interviewed at EyeonDNA

        I was recently interviewed by Hsien at EyeonDNA.  She asked some great questions about the field of genetic genealogy, and I hope you’ll check it out.

          I consider my new friendship with Hsien and other fellow bloggers to be one of the great successes of this blog, and I thank her for the opportunity to share my enthusiasm for genetic genealogy with her readers!

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What do the results of a Deep SNP test mean?

Often, at least at the current stage of genetic genealogy, DNA sequencing does not reveal enough information to identify a person’s particular Y chromosome or mtDNA haplogroup.The example I will be using in this post is Haplogroup E.Haplogroup E split into E1, E2, and E3 about 28,000 years ago.Current tests offered by many sequencing companies are able to place a person in the general “E” Haplogroup, but might be unable to determine exactly which subclade of E a person descends from.In such a situation, a “Deep SNP” test can be used to fill in that information.

A SNP is single nucleotide polymorphism, or a change in the DNA sequence at a single nucleotide.For instance, the switch of a C for G, a cytosine for a guanine.You can see a chart of some of the most common SNPs tested for genetic genealogy here or here.The Deep SNP test (which can go by other names) analyzes a person’s DNA, such as the Y chromosome, for the presence or lack of these mutation(s).

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Interview with Katherine Hope Borges at ISOGG

The following is an interview with Katherine Hope Borges, founder of ISOGG (The International Society of Genetic Genealogy), done at the 2007 SoCal Genealogical Jamboree. ISOGG has about 5,000 members and is growing rapidly. ISOGG has MANY great services on their website, including the “Founding Fathers DNA Page”, and an up-coming Presidential DNA page.

If you liked the video, there are lots more at Roots Television!! If you’re interested in genetic genealogy and haven’t checked out Roots Television yet, you don’t know what you’re missing.

Thanks to Megan for letting me snag this video!

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The DNA Network

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The Genetic Genealogist has been invited to be a member of the new genetics blogging group The DNA Network, founded by Rick Vidal of My Biotech Life and Hsien Lei of Eye on DNA. The group is “a network (double helix?) composed of life science enthusiasts with specialized views in areas such as genetics, biology, biotechnology, health care, and much more.”

Not only is the network a great way to discover new blogs, but it is an opportunity to stay current on events and developments in the field of genetics. The following blogs are currently members of the network:

My Biotech Life
DNA Direct Talk
Epidemix
Epigenetics News
evolgen
Eye on DNA
Gene Sherpas: Personalized Medicine and You
Genomicron
henry: the human evolution news relay (genetics)
Mary Meets Dolly
Microarray and Bioinformatics
Omics! Omics!
ScienceRoll
And me, The Genetic Genealogist.

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Ask a Geneticist

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Do you have a burning question about genetics that’s been keeping you up at night? Ever wonder why the combination of red hair and brown eyes is so rare? There are two great resources currently available online for anyone who is curious about genetics.

AsktheGeneticist is a partnership between the Department of Human Genetics at Emory University and theDepartment of Genetics at the University of Alabama at Birmingham.The mission of AsktheGeneticist “is to answer questions about genetic concepts, and the etiology, treatment, research, testing, and predisposition to genetic disorders.” AsktheGeneticist has a genetic genealogy section, but it’s pretty sparse.

The Tech Museum of Innovation in San Jose, California has partnered with the Department of Genetics at Stanford University to present “Genetics: Technology with a Twist.”The interactive site has an ‘Ask The Geneticist’ section where you can ask a Stanford geneticist a question.

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Top 5 Reasons to Save Your Grandmother’s DNA

1.You got those big blue eyes from your grandmother, but chances are you inherited less desirable genes as well.We inherit our DNA from our parents, who inherited it from their parents.Since we all possess genes that can cause or contribute to disease, knowing one’s DNA and family medical history can be a great resource for someone who learns they have a genetic disorder.

2.Full genome sequencing is right around the corner!The X-prize quest for the $1000 genome will lead to efficient and affordable whole-genome sequencing.As commercial companies crop up and compete for customer’s business, leading to even lower prices.

3.Your grandmother’s DNA contains clues to her ancestry.X-chromosome, mtDNA, and autosomal genealogy tests contain clues to a person’s ancestry, both recent and ancient.

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Is Genetic Genealogy A Scam?

If you’re a regular reader of this blog, then you know that I am a strong proponent of genetic testing for genealogical purposes.I believe that when used correctly genetic testing can serve as a valuable tool in the genealogist’s toolbox.

A recent visitor found my blog with the search term “is genetic genealogy a scam?”When I recreated the search, I discovered that a previous post on this blog is the leading link for this search. The process made me think about the many people who are skeptical or wary of genetic genealogy.As a scientist, I appreciate and encourage healthy skepticism.After all, genetic genealogy has been available for less than a decade, and it has changed considerably since it was first offered.I believe that anyone who forays into the world of genetic genealogy should have a basic understanding of the science and the application of the results.Just reading about genetic genealogy in the media can give one a distorted view of the technology.Along this point, I recommend reading an interesting article by Rebecca Skloot (author of the upcoming book “The Immortal Life of Henrietta Lacks,” which I can’t wait to read).I was referred to that article by a post on her blog (Culture Dish) entitled “The Bogus-ness of DNA Testing for Genealogy Research” in which she reiterates the point that genetic genealogy tests “simply can’t tell you anything definitive about your heredity unless you’re testing your DNA and comparing it to someone else’s to find out if you’re related.”

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