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How Would You Like to (Finally!) Understand Autosomal DNA?

Genetic-Tree-Showing-Ethnicity-Loss[Read on to learn how you could win THREE hours of FREE consultation and research from me for registering in this course before March 21st!]

For the next two Saturdays, March 21st and 28th, I will be spending some quality time with genetic genealogists! My new course entitled “(Finally!) Understanding Autosomal DNA” is a four session course designed to educate genealogists on all the ins and outs of autosomal DNA.

The course is being offered through the wonderful new Virtual Institute of Genealogical Research. The Virtual Institute offers courses on a wide variety of genealogical subjects, providing vigorous year-round education for the genealogical community using a virtual platform.

The four courses will provide attendees with the fundamentals of autosomal DNA, third-party tools, and triangulation. Here is the course schedule (all times U.S. Eastern):

21 March 2015

  • 11:00am – “Introduction to Autosomal DNA”: Learn the fundamentals of autosomal DNA and compare company offerings.
  • 1:00pm – “Using Third-Party Tools”: Free tools offer powerful additional analysis of autosomal DNA test results.

28 March 2015

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45

Collecting Sharing Information for Known Relationships

I need your help! I’m trying to gather data about the ranges of DNA shared by known relatives. How much DNA do you share with your sister? your brother? your second cousin? While it is possible to predict approximately how much DNA you share with a close relative, the actual numbers vary more than you might think.

If you’re interested in participating in this project, I’m looking for two numbers for the known relationship: (1) the total amount of shared DNA in cMs; and (2) the largest shared block in cMs. At Family Tree DNA, for example, you can find the numbers here:

DNA Sharing

You can contribute HERE! And if contribute before April 1, 2015 (and provide a valid email address), you will be eligible to win a FREE Family Finder kit! One free kit will be given away to a lucky winner.

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11

Announcing the Genetic Genealogy Standards

Today, at the first annual Salt Lake Institute of Genealogy Colloquium, the final draft of the Genetic Genealogy Standards were officially announced and released!

The standards are the work of a wonderful group of people, and have been in the works for over a year (see “DNA Standards and Certification – A Response to an NGS Quarterly Editorial” and “Announcing the Creation of Genetic Genealogy Standards“). Thanks in large part to a very productive comment period in May and June of 2013 in which more than 75 comments were provided, the document has been fine-tuned and we believe it is an excellent source of guidelines.

There will be lots more to come, including guidelines for Y-DNA and mtDNA testing and interpretation, as well as some guidance for citing DNA test results in reports, scholarship, and in general. Stay Tuned!

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6

AncestryDNA Recreates Portions of the Genome of David Speegle and his Two Wives

GeneticGenealogyFutureStamp1UPDATE: AncestryDNA scientist Dr. Julie Granka posted about this new development at “AncestryDNA Scientists Achieve Advancement in Human Genome Reconstruction,” and here’s the YouTube video: “AncestryDNA Reconstructs Partial Genome of Person Living 200 Years Ago.”

I’ve written before about a poster presented by AncestryDNA at the American Society of Human Genetics 2013 annual meeting, entitled “Reconstruction of Ancestral Human Genomes from Genome-Wide DNA Matches,” and a poster presented at the 2014 meeting entitled “Reconstruction of ancestral human haplotypes using genetic and genealogical data.” In these posters, the scientists at AncestryDNA revealed their efforts to recreate portions of the genomes of an 18th century couple using sequencing information from hundreds of descendants.

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Recreating a Grandmother’s Genome – Part 1

My grandmother Jane died in 1984 when I was just 8 years old. I have some really great memories of her, faded with time but still filled with emotion. Bath times, spending time with her in the summer, newspaper hats, chrysanthemums.

However, in addition to those memories, she gave me a very unique genetic heritage. She was from a region of the world with a high degree of admixture, and thus it is from her that I obtained my Native American mtDNA, my Native American, African American, and Spanish autosomal DNA. It is an incredibly rich and fascinating genetic legacy.

In an attempt to learn more about my grandmother’s genetic heritage, I’m using GEDmatch’s new Lazarus tool to try to recreate as much of her genome as possible. Join me on the journey, and learn about this new tool.

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Bridging the Gap Between Traditional Genealogy and Genetic Genealogy at the NYG&B

logo.png  670×83I am incredibly honored to announce my election to the Board of Trustees of the New York Genealogical & Biographical Society! The NYG&B is the largest and oldest genealogical society in New York State, and the second oldest genealogical society in the nation. As a lifelong genealogist with New York roots dating back almost 250 years, joining the NYG&B is a dream come true for me.

Over the past decade, DNA has become a powerful tool for genealogical research. As a member of the NYG&B’s Board of Trustees, I hope to be able to help bridge the (ever-closing) gap between traditional genealogy and genetic genealogy, and help both members and non-members understand and incorporate DNA into their family histories.

The board represents an incredible group of people dedicated to helping people discovery their family histories, and I am so grateful to be able to join them. The full list is below.

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19

Finally! GEDmatch Announces a Monetization Strategy (and a Way to Raise the Dead?)

GEDmatch   Tools for DNA and genealogy researchIf you’re serious about genetic genealogy, you’ve heard of GEDmatch. The third-party site is one of the few ways to compare testing results among the three testing companies. The site

However, since GEDmatch is run by two incredible volunteers (Curtis Rogers and John Olson) with full-time jobs, the site has experienced server issues and downtime. Many have lamented that there was no monetization plan in place, but gave donations in hope that it would help the site grow.

This week, GEDmatch announced a monetization strategy, namely advanced tools that are only available to Tier 1 members at a nominal cost of $10/month:

Basic GEDmatch programs remain free and we plan to keep them this way. Donations help cover the costs associated with running this site, and will provide you with the benefit of using the additional Tier 1 tools for a period of time equal to one month for every $10 donated. You may use the ‘Donate’ button below, for a one-time donation of any amount, or the ‘Join GEDmatch’ button to establish a recurring $10 per month amount.

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2

Mapping Disease Genes to Our Ancestors – Mutation Mapped to 1620

ng3113-F1In 2008, I wrote about the case of Mr. and Mrs. George Fry, who are believed to have brought a particularly negative mutation with them to the New World from Europe in 1630 (“A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy?“). The mutation – in the APC gene – increases the likelihood of colon cancer, and has been found in many of the Fry’s living descendants.

In this months’s issue of Nature Genetics (see “Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm“), researchers using the BALSAC Population Database traced a founder mutation in SGOL1, which causes Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome. So not only is it interesting that the same gene is involved in both heart rhythm and intestinal rhythm, but that the DNA has been mapped to this ancestral couple. The couple, whose names were not provided, were married in France in 1620 and arrived shortly thereafter in Nouvelle France.

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Ancient Genomes at GEDmatch

A great resource from Jay Chandrakumar at Genetic Genealogy Tools (www.y-str.org) – SNPs extracted from sequenced ancient genomes and loaded into GEDmatch. Try out admixture tools with these GEDmatch profiles, but don’t expect many matches in One-to-Many!

Denisova – GEDMatch# F999903

Mezmaiskaya Neanderthal #1 – GEDMatch# F999909

Altai Neanderthal #2 – GEDMatch# F999902

Palaeo-Eskimo 2000 BC – GEDMatch# F999906

Clovis-Anzick – GEDMatch# F999912

For example, here’s the Palaeo-Eskimo 2000 BC (F999906) profile in MDLP K23b:

F999906 GEDmatch

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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7

AncestryDNA Continues to Refine the Reconstruction of Ancestral Genomes

GeneticGenealogyFutureStamp1I’ve written before about a poster presented by AncestryDNA at the American Society of Human Genetics 2013 annual meeting, entitled “Reconstruction of Ancestral Human Genomes from Genome-Wide DNA Matches.”  In the abstract, the group describes how they use sequencing information from hundreds of descendants of an 18th century couple to recreate portions of the genomes of that couple.

AncestryDNA’s 2014 ASHG Poster 

The AncestryDNA group has continued to refine the process of reconstructing the genomes of ancestral couples, and has a poster in this year’s American Society of Human Genetics annual meeting:

Title: Reconstruction of ancestral human haplotypes using genetic and genealogical data.

Author(s): J. M. Granka, R. E. Curtis, K. Noto, Y. Wang, J. K. Byrnes, M. J. Barber, N. M. Myres, C. A. Ball, K. G. Chahine

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