What? Can mtDNA Really Come From Dad?

Blaine Bettinger 11 Comments

It is canon that you received your mtDNA from your mother, who received it from her mother, who received it from her mother, back through time to Mitochondrial Eve. But could that canon be wrong?

Probably not. And even if some paternal mtDNA were to “leak” into and survive in the embryo, it would happen so rarely that it could only affect things like the timing to Mitochondrial Eve and population studies, NOT genealogical research.

[New] Research from PNAS

In new research from the journal PNAS published today (“Biparental Inheritance of Mitochondrial DNA in Humans“), which is unfortunately behind a paywall, researchers identified paternally-inherited mitochondrial DNA in 17 individuals spanning three unrelated families. What is missed from the media coverage, however, is that these families were identified because member(s) were presenting with conditions that made the researchers suspect a mitochondrial disorder. ... Click to read more!

Testing Artifacts to Obtain DNA Evidence for Genealogical Research

Blaine Bettinger 38 Comments

UPDATES:

  • December 2, 2018 Update from totheletterDNA (via their FB page) – there are 48 samples extracted and ready for genotyping. There are also 150 new samples undergoing extraction this coming week. All extracted samples will be genotyped before Christmas. Turnaround times should be improved moving forward due to having a “more streamlined process in place.”
  • November 18, 2018 Update – DNA was found in every sample analyzed, with the oldest being from 1930. All samples are being run through a second extraction method at the Garvan Institute of Medical Research, after which there will be quality checks of the extraction. Samples that went through two extraction methods will be genotyped twice, once for each method/sample.

Links to Other Blog Posts:

ORIGINAL ARTICLE:

Artifact testing promises to be an interesting component of the future DNA evidence and genealogy. If we can obtain and reliably identify DNA from deceased ancestors, relatives, or other individuals, we might be able to enrich our genealogical research.

For years I’ve been telling people that there is an enormous untapped market for artifact testing, and that they should hold on to their artifacts because a company will arise to offer this service. I typically follow that up by telling them NOT to literally “hold on to their artifacts” because I don’t want them to contaminate them! But seriously, there are many thousands, potentially millions, of artifacts that could possess DNA from long-dead individuals. ... Click to read more!

Using Semi-Anonymous Genetic Data in Genealogical Conclusions

Blaine Bettinger 28 Comments

The genealogical community has a serious issue we need to talk about.

We are amassing one of the largest collections of genealogical information ever created, in the form of DNA match data. As of October 2018, approximately 20 million people have taken autosomal DNA (atDNA) tests, and that number continues to grow rapidly. DNA evidence is being added as an additional record to support existing genealogical conclusion, being used to generate new hypotheses, and helping break down decades-old brick walls.

However, since many genetic matches are either unwilling or unable to respond to communication or provide permission for public use of the genetic data, much of the massive database is potentially locked behind privacy walls such that the information can’t be utilized in scholarship and can’t be publicly shared. Indeed, Standard #8 of the Genetic Genealogy Standards (PDF) mandates the following: ... Click to read more!

Introducing “DNA Match Labeling” – A Sorting Mechanism for AncestryDNA Matches!

Blaine Bettinger 55 Comments

Many DNA test takers have a wealth of genetic relatives! For example, I have more than 50,000 different genetic cousins across all the genealogy DNA testing companies. Although many regions of the world do not yet have 1,000’s of genetic cousins in their match lists, they will in the future as DNA testing grows increasingly popular and the testing companies target other countries.

Unfortunately, the testing companies have not provided users with the tools necessary to organize these matches. Indeed, clustering and organization of genetic cousins is a huge component of the future of DNA evidence. Clustering of our matches allows us to identify information that is not visible or apparent when the matches are unorganized.

This is where the DNA Match Labeling extension for Chrome comes in! I worked with a programmer to build this extension. ... Click to read more!

AncestryDNA Revises Ethnicity Estimates

Blaine Bettinger 112 Comments

AncestryDNA today (12 September 2018) released updated ethnicity estimates for all customers. Everyone in the AncestryDNA database will see some change in their estimate.

This update represents one of the most significant refinements of AncestryDNA’s ethnicity estimates. Both the reference populations and the ethnicity algorithm underwent significant development.

The size and makeup of the reference populations grew substantially, from ~3,000 reference samples to ~16,000 reference samples (many provided by test takers that consented to participating in AncestryDNA research). The update adds 17 new regions to the ethnicity analysis (from 363 to 380). Many more are needed in areas such as Asia and Africa, of course, but this is a great addition. As well, many regions were redefined or their names were changed to more accurately reflect the region. ... Click to read more!

DNA Central is Live!

Blaine Bettinger 14 Comments

DNA Central (www.DNA-Central.com), your one-stop resource for DNA education, has just gone live! See below for your special discount membership offer, a thanks for being a The Genetic Genealogist subscriber!

What is DNA Central?

There is an enormous need for DNA education. Millions of people are testing their DNA every year, but there are so few educational resources for those test takers. Receiving your results from the test company is just the first step in the process. How do you understand those test results? What do you do with them?

DNA Central is my effort to provide that DNA education in multiple formats. The membership-only website will provide resources for people at all levels trying to understand their results and stay on top of the most recent developments in DNA. These resources include: ... Click to read more!

Board for Certification of Genealogists: Comments Sought for Proposed DNA Standards

Blaine Bettinger 1 Comment

Today (23 May 2018), the Board for Certification of Genealogists announced a 60-day public comment period for a set of proposed DNA standards:

The link for the Genealogy Standards is here: https://www.amazon.com/Genealogy-Fiftieth-Anniversary-Certification-Genealogists/dp/1630260185.

The PDF of the proposed standards is here: https://bcgcertification.org/DNA/Proposed_Standards.pdf.

The link for the survey is here: https://goo.gl/forms/57ahXLqkAYOBWDop2.

Via a Facebook post, BCG announced the following:

The Trustees of the Board for Certification of Genealogists (BCG) met in Grand Rapids, Michigan on 2 May 2018. The trustees…debated a proposal to update genealogy standards to incorporate standards related to genetic genealogy. As a result of this discussion BCG intends to move forward with the integration of genetic genealogy into Genealogy Standards. The board directed that the committee’s proposal be published for public comment. The proposed standards can be viewed at https://bcgcertification.org/DNA/Proposed_Standards.pdf. The public comment period ends on 23 July 2018. Fill out the survey at this link (https://goo.gl/forms/57ahXLqkAYOBWDop2) by 23 July 2018. Due to the expected volume of comments, we will not be able to acknowledge or respond to individual comments. ... Click to read more!

Heteroplasmies and Poly-Cytosine Stretches – An mtDNA Case Study

Blaine Bettinger 13 Comments

I don’t match my mother’s mtDNA test results.

How is that possible?

Last fall during the sales at Family Tree DNA, I ordered an mtDNA test for my mother. Now, usually there isn’t a need to test your mother’s mtDNA if you’ve tested your own, and vice versa. You should have the same mtDNA results, and in almost all cases you will.

However, I decided to test my mother because I have a mutation that puts me at an mtDNA genetic distance of 1 relative to matches that are likely related about 200 years ago in the Caymans where my mtDNA came from. That mutation always bugged me. Although it certainly isn’t unusual to have a GD=1 at 200 years, my maternal line is a work in progress so I want as much information as possible. So I decided to “walk back” the mtDNA line as far as I could. Although my mother was only one generation further back, it couldn’t hurt to have her mtDNA sequenced just in case it could shed light on this mutation (and, frankly, the sale was too good to pass up!). ... Click to read more!

Informed Consent Agreement and Beneficiary Agreement

Blaine Bettinger 15 Comments

Last year in the Facebook group Genetic Genealogy Tips & Techniques, we were discussing the need in the community for an informed consent agreement and a beneficiary designation form. Provided below are informed consent agreement and beneficiary designation form that I drafted with very helpful feedback from the GGT&T community early last summer. Feel free to use these agreements/forms pursuant to the disclaimers below, and pursuant to the CC license under which they are distributed!

Please note that this is NOT legal advice. I do NOT make any representation that these forms are legally binding or sufficient for their intended purpose. I highly recommend that you see an attorney if you have any questions or concerns.

Informed Consent Agreement ... Click to read more!

DNA Central! A New DNA Resource Launching April 2018!

Blaine Bettinger 10 Comments

DNA is hard. There’s no way around it. Sure, it’s easy to spit in a tube, but once you have all those percentages and centiMorgans and matches, how do you make sense of it? What does it all mean? And how can it help you understand where you came from and how to use it to explore your ancestry?

Announcing DNA Central, a new resource for everything DNA! This new subscription-based site will have blog posts about the latest and greatest, how-to content (including a  “What Next?” series), short videos (such as the “3-Minute DNA” series), webinars, and forums! We’ll also have monthly giveaways and much more! It’s everything you need to finally understand and apply the results of your DNA testing! ... Click to read more!