Category Archives: Academic papers

The Best of 2022

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It’s that time of year where we look both backward and forward.

Thank you for your continued readership! Another year under our belts!

I always find it interesting to review the articles you found most interesting this past year.

In total, I published 97 articles in 2022, of which 56 were directly instructional about genetic genealogy. I say “directly instructional,” because, as you know, the 52 Ancestors series of articles are instructional too, but told through the lives of my ancestors. That leaves 41 articles that were either 52 Ancestors articles, or general in nature.

It has been quite a year.

2022 Highlights

In a way, writing these articles serves as a journal for the genetic genealogy community. I never realized that until I began scanning titles a year at a time.

Highlights of 2022 include:

Which articles were your favorites that were published in 2022, and why?

Your Favorites

Often, the topics I select for articles are directly related to your comments, questions and suggestions, especially if I haven’t covered the topic previously, or it needs to be featured again. Things change in this industry, often. That’s a good thing!

However, some articles become forever favorites. Current articles don’t have enough time to amass the number of views accumulated over years for articles published earlier, so recently published articles are often NOT found in the all-time favorites list.

Based on views, what are my readers’ favorites and what do they find most useful?

In the chart below, the 2022 ranking is not just the ranking of articles published in 2022, but the ranking of all articles based on 2022 views alone. Not surprisingly, six of the 15 favorite 2022 articles were published in 2022.

The All-Time Ranking is the ranking for those 2022 favorites IF they fell within the top 15 in the forever ranking, over the entire decade+ that this blog has existed.

Drum roll please!!!

Article Title Publication Date 2022 Ranking All-Time Ranking
Concepts – Calculating Ethnicity Percentages January 2017 1 2
Proving Native American Ancestry Using DNA December 2012 2 1
Ancestral DNA Percentages – How Much of Them in in You? June 2017 3 5
AutoKinship at GEDmatch by Genetic Affairs February 2022 4
442 Ancient Viking Skeletons Hold DNA Surprises – Does Your Y or Mitochondrial DNA Match? Daily Updates Here September 2020 5
The Origins of Zana of Abkhazia July 2021 6
Full or Half Siblings April 2019 7 15
Ancestry Rearranged the Furniture January 2022 8
DNA from 459 Ancient British Isles Burials Reveals Relationships – Does Yours Match? February 2022 9
DNA Inherited from Grandparents and Great-Grandparents January 2020 10
Ancestry Only Shows Shared Matches of 20 cM and Greater – What That Means & Why It Matters May 2022 11
How Much Indian Do I Have in Me??? June 2015 12 8
Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links March 2022 13
FamilyTreeDNA DISCOVER Launches – Including Y DNA Haplogroup Ages June 2022 14
Ancient Ireland’s Y and Mitochondrial DNA – Do You Match??? November 2020 15

2023 Suggestions

I have a few articles already in the works for 2023, including some surprises. I’ll unveil one very soon.

We will be starting out with:

  • Information about RootsTech where I’ll be giving at least 7 presentations, in person, and probably doing a book signing too. Yes, I know, 7 sessions – what was I thinking? I’ve just missed everyone so very much.
  • An article about how accurately Ancestry’s ThruLines predicts Potential Ancestors and a few ways to prove, or disprove, accuracy.
  • The continuation of the “In Search Of” series.

As always, I’m open for 2023 suggestions.

In the comments, let me know what topics you’d like to see.

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“Nature scientific reports” 2022 Editor’s Choice Collection – We Made It!!!!

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You’ll excuse me while I jump for joy and do a happy dance. You might say I’m over the moon, pardon the pun. There’s nothing to lift your spirits quite like a pleasant surprise!I

In June, when our article, African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing was published, you may or may not have noticed that the journal name was “nature, scientific reports.” No, they don’t capitalize the words in the journal’s title.

I know I didn’t mention how difficult is it to get published in this particular journal, so you’ll just have to trust me about how many grey hairs I can attribute to that process.

Taking that into account, imagine my surprise today when I discovered our paper in the Editor’s Choice collection for 2022. That’s not only amazing, it was entirely unexpected. Ironically, they didn’t notify the authors, so we found out quite by accident.

“Congratulations!!!”

“For what?”

“Editor’s Choice”

“Editor’s Choice for what? Where?”

“Nature scientific reports – the Editor’s Choice articles for 2022. Your L7 paper. It’s there in Ancient DNA.”

“WHAT?????”

I had to look right away, of course, never mind that I was standing in line at the bank at the time. I hope they didn’t notice the strange woman giving out a little yelp and accompanying leap. Ok, maybe it was a tiny leap, more like a happy hop, but it still counts.

Here, you can look too!

I was dumbstruck. Truth be told, I didn’t even realize there WAS a yearly Editor’s Choice collection. My bad. I probably shouldn’t admit that😊

The editor’s intro mentions that Svante Pääbo won the Nobel Prize in Physiology or Medicine this year for his work over the past several years on sequencing the genomes of extinct hominins, founding the field of paleogenetics.

Excuse my fan-girl exuberance, but it has truly been a banner year for genetics. I can’t help but be incredibly geeked! I had to read the announcement two or three times to be sure I was seeing what I was seeing.

Our paper was selected as one of 5 in the Mitogenomics section of the ancient DNA category and has accumulated just over 9700+ views which is actually amazing for a scientific paper. So, thank you everyone who read it. I’m glad we made the paper “open access,” which means free.

I wrote about our discovery, here and we published a video, here, but our paper is slightly different than the ancient DNA of the other papers in that category. The other papers utilize DNA extracted from ancient remains, but the “ancient DNA” of haplogroup L7, reaching back 100,000 years, was discovered in living people, with the exception of one 16,000-year-old ancient sample from Malawi that had initially been misclassified as L5, but has since been moved to L7.

That’s super-exciting because we know that this hen’s-teeth rare lineage still exists in a few people. Maybe you’re one of them. Maybe you carry a different but equally-as-rare mitochondrial lineage – your mother’s direct maternal line.

I hope you’ll test your mitochondrial DNA, here, to see what secrets are waiting for you.

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Mitochondrial Eve Gets a Great-Granddaughter: African Mitochondrial Haplogroup L7 Discovered

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Such wonderful news today!

We have a birth announcement, of sorts, detailed in our new paper released just today,  “African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing.”

Woohoo, Mitochondrial Eve has a new great-granddaughter!

Back in 2018, Goran Runfeldt and Bennett Greenspan at FamilyTreeDNA noticed something unusual about a few mitochondrial DNA sequences, but there weren’t enough sequences to be able to draw any conclusions. As time went on, more sequences became available, both in the FamilyTreeDNA database and in the academic community, including an ancient sequence.

This group of sequences did not fit cleanly into the phylogenetic tree as structured and seemed to cluster together, but more research and analysis were needed.

Were these unique sequences a separate branch? One branch or several? What would creating that branch do to the rest of the tree?

Given that Phylotree, last updated in 2016, did not contain an applicable branch, what were we to do with these puzzle pieces that really didn’t fit?

These discussions, and others similar, led to the decision to launch the Million Mito Project to update the mitochondrial phylogenetic tree which is now 6 years old and seriously out-of-date. For the record, phylogenetics on this scale is EXTREMELY challenging, which is probably why Phylotree hasn’t been updated, but that’s a topic for another article, another day. Today is the day to celebrate haplogroup L7.

Haplogroup L7

The Million Mito team knew there were lots of candidate haplogroups waiting to be formed near the ends of the branches of the phylotree, but what we didn’t expect was a new haplogroup near the root of the tree.

Put another way, in terms that genealogists are used to, the new branch is Eve’s great-granddaughter.

Haplogroup L now has 8 branches, instead of 7, beginning with L0. We named this new branch haplogroup L7 in order not to disrupt the naming patterns in the existing tree.

Let’s take a look.

I used the phylogenetic tree from our paper and added Eve.

Just to be clear, we aren’t talking literal daughters and granddaughters. These are phylogenetic daughters which represent many generations between each (known) branch. Of course, we can only measure the branches that survived and are tested today or are found in ancient DNA.

The only way we have of discovering and deciphering Eve and her “tree” of descendants is identifying mutations that occurred, providing breadcrumbs back in time that allow us to reconstruct Eve’s mitochondrial DNA sequence.

Those mutations are then carried forever in daughter branches (barring a back-mutation). This means that, yes, you and I have all of those mutations today – in addition to several more that define our individual branches.

You can see that Eve has two daughter branches. One branch, at left, is L0.

Eve’s daughter to the right, which I’ve labeled, is the path to the new L7 branch.

Before this new branch was identified, haplogroup L5 existed. Now, Eve has a new great-granddaughter branch L5’7 that then splits into two branches; L5 and L7.

L5 is the existing branch, but L7 is the new branch that includes a few sequences formerly misattributed to L5.

Even more exciting, the newly discovered haplogroup L7 has sub-branches too, including L7a, L7a1, L7b1 and L7b2.

In fact, haplogroup L7 has a total of 13 sublineages.

How Cool is This?!!

Haplogroup L7 is 100,000 years old. This is the oldest lineage since haplogroup L5 was discovered 20 years ago. To put this in perspective, that’s about the same time the first full sequence mitochondrial DNA test was offered to genealogists.

It took 20 years for enough people to test, and two eagle-eyed scientists to notice something unusual.

Hundreds of thousands of people have had their mitochondrial DNA tested, and so far, only 19 people are assigned to haplogroup L7 or a subgroup.

One of those people, shown as L7a* on the tree above, is 80,000 years removed from their closest relative. Yes, their DNA is hens-teeth rare. No, they don’t have any matches at FamilyTreeDNA, just in case you were wondering😊

However, in time, as more people test, they may well have matches. This is exactly why I encourage everyone to take a mitochondrial DNA test. If someone is discouraged from testing, you never know who they might have matched – or how rare their DNA may be. If they don’t test, that opportunity is lost forever – to them, to other people waiting for a match, and to science.

Are there other people out there with this haplogroup, in either Africa or the diaspora? Let’s hope so!

With so few L7 people existing today, it looks like this lineage might have been on the verge of extinction at some point, but somehow survived and is now found in a few places around the world.

Ancient DNA

One 16,000-year-old ancient DNA sample from Malawi has been reclassified from L5 to L7.

This figure from the paper shows the distribution of haplogroup L within Africa, and the figure below shows the Haplogroup L7 range within Africa, with Tanzania having the highest frequency. Malawi abuts Tanzania on the Southwest corner.

Where in the World?

Checking on the public tree at FamilyTreeDNA, you can see the new L5’7 branch with L7 and sub-haplogroups beneath.

We find L7 haplogroups in present-day testers from:

  • South Africa
  • Kenya
  • Ethiopia
  • Sudan
  • United Arab Emirates
  • Yemen
  • Tanzania

It’s also found in people who live in two European countries now, but with their roots reaching back into Africa. Surprisingly, no known African-Americans have yet tested with this haplogroup. I suspect finding the haplogroup in the Americas is just a matter of time, and testing.

The FamilyTreeDNA customers who are lucky enough to be in haplogroup L7 have had their haplogroup badges updated.

If you are haplogroup L at FamilyTreeDNA, check and see if you have a new badge.

Credit Where Credit is Due

I want to give a big shout-out to my colleagues and co-authors. Dr. Paul Maier (lead author,) Dr. Miguel Vilar and Goran Runfeldt.

I can’t even begin to express the amount of heavy lifting these fine scientists did on the long journey from initial discovery to publication. This includes months of analysis, writing the paper, creating the graphics, and recording a video which will be available soon.

I’m especially grateful to people like you who test their DNA, and academic researchers who continue to sequence mitochondrial DNA in both contemporary and ancient samples. Without testers, there would be no scientific discoveries, nor genealogy matching. If you haven’t yet tested, you can order (or upgrade) a mitochondrial DNA test here.

I also want to thank both Bennett Greenspan, Founder, and President, Emeritus of FamilyTreeDNA who initially greenlit the Million Mito Project in early 2020, and Dr. Lior Rauschberger, CEO who continues to support this research.

FamilyTreeDNA paid the open access fees so the paper is free for everyone, here, and not behind a paywall. If you’re downloading the pdf, be sure to download the supplements too. Lots of graphics and images that enhance the article greatly.

Congratulations to Mitochondrial Eve for this new branch in her family tree. Of course, her family tree is your family and mine – the family of man and womankind!

_____________________________________________________________

Follow DNAexplain on Facebook, here or follow me on Twitter, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research