What insights can ancient DNA provide about human ancestry?

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In summary: I learned that the bones were from a pilgrimage to honor a goddess, that there was a snowstorm that prevented the original expedition from reaching the site, and that the bones are from 500-800 years old.
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I recently took a DNA test in parallel with collecting family records, government records, and church records (many of which are used by local/regional governments). I knew about many ancestors, but I've confirmed many more through discovering other family lines through DNA tests. I've identified more than 200 ancestors, and several hundred descendants through shared DNA, and hundreds, if not thousands, more by records of families of those with whom I share pieces of DNA.

Edit: I just discovered I have DNA matched to more than 18K persons, so far, with 433 close matches (4th cousins or closer).

I received DNA results in terms of number of cM (centi-Morgans) and numbers of segments.
https://www.genome.gov/genetics-glossary/Centimorgan
https://en.wikipedia.org/wiki/Centimorgan

A niece shares more than 1600 cM, while three first cousins, 1x-removed, share 415, 350 and 286 cM, and some second cousins, 1x-removed share between 200 and 260 cM. Dozens of Extended family members share 45 to 170 cM of DNA, and there are hundreds of distant relatives with down to 8-10 cM of DNA. Some DNA may come from Poland, Ukraine and/or Russia/Belarus, and some appears to originate from the Mediterranean region.

The descendants are certainly more diverse than the ancestors, having scattered across the world. One relative has DNA from Europe and Africa, with the latter very diverse: Cameroon, Congo & Western Bantu Peoples, Nigeria, Senegal, Mali, Ivory Coast, Ghana, and Benin and Togo. Other relatives have Asian and South American Ancestry.

Seems parts of my ancestry love to go places.

In some cases, I'm wondering if there is common DNA that many of us share.While looking at some DNA research, I stumbled across the following:

David Reich, Professor, Department of Genetics, Harvard Medical School; Investigator, Howard Hughes Medical Institute; Senior Associate Member, Broad Institute of Harvard and MIT

2018 - Ancient DNA and the New Science of the Human Past

 
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Some papers from David Reich's presentation

Massive migration from the steppe was a source for Indo-European languages in Europe​

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048219/

The Genomic Formation of South and Central Asia​

https://www.biorxiv.org/content/10.1101/292581v1

Reconstructing Native American Population History​

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615710/I also learned of what would be a complementary studies done in the UK and Ireland

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland​

https://www.nature.com/articles/s41598-017-17124-4

Studies of ancient Irish genomes suggest that the modern Irish genetic landscape was established about 3,500 years ago in the Irish Bronze Age. Furthermore, a number of genetically-related diseases are found in the Irish population, and apparently, in the UK in those who live further north. "Several traits are found to be at high frequencies within the Irish, compared to the mainland European populations, including; cystic fibrosis, lactase persistence, coeliac disease, galactosaemia, and multiple sclerosis."

https://www.peopleofthebritishisles.org/publications

The fine-scale genetic structure of the British population​

https://www.nature.com/articles/nature14230 (purchase or subscription required)

The genetic landscape of Scotland and the Isles​

https://www.pnas.org/doi/10.1073/pnas.1904761116
 
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Using DNA to identify skeletons from a Himalayan Lake (Elevation: 5,020 metres (16,470 ft)).
https://www.newyorker.com/magazine/2020/12/14/the-skeletons-at-the-lake

In the winter of 1942, on the shores of a lake high in the Himalayas, a forest ranger came across hundreds of bones and skulls, some with flesh still on them. When the snow and ice melted that summer, many more were visible through the clear water, lying on the bottom. The lake, a glacial tarn called Roopkund, was more than sixteen thousand feet above sea level, an arduous five-day trek from human habitation, in a mountain cirque surrounded by snowfields and battered by storms. In the midst of the Second World War, British officials in India initially worried that the dead might be the remains of Japanese soldiers attempting a secret invasion. The apparent age of the bones quickly dispelled that idea. But what had happened to all these people? Why were they in the mountains, and when and how had they died?

In 1956, the Anthropological Survey of India, in Calcutta, sponsored several expeditions to Roopkund to investigate. A snowstorm forced the first expedition to turn back, but two months later another expedition made it and returned to Calcutta with remains for study. Carbon dating, still an unreliable innovation, indicated that the bones were between five hundred and eight hundred years old.

. . . .
People in the villages below Roopkund had their own explanation, passed down in folk songs and stories. The villages are on the route of a pilgrimage to honor Nanda Devi, a manifestation of Parvati, a supreme goddess in Hinduism. The pilgrimage winds up through the foothills of the Trisul massif, where locals believe that the goddess lives with her husband, Shiva. It may be the longest and most dangerous pilgrimage in India, and a particularly perilous section—the Jyumra Gali, or Path of Death—runs along a ridge high above Roopkund. . . . .

It's an interesting story.
https://en.wikipedia.org/wiki/Roopkund

https://en.wikipedia.org/wiki/Nanda_Ghunti
https://en.wikipedia.org/wiki/Trisul
 
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Are there some non-commercial forums, data bases and open software to do these kind of DNA analyses?
 
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DrDu said:
Are there some non-commercial forums, data bases and open software to do these kind of DNA analyses?
I have seen non-commercial forums for genealogical/ancestry discussions, and in fact, I discovered a relative on such a forum when we both responded to someone's query about a common ancestor and family from a specific region.

As for open software, my wife recommends RootsMagic. It seems there is a free version, but one might want to purchase a version with greater capability.
https://www.rootsmagic.com/RootsMagic/
This apparently allows one to store one's family tree on one's local computer as opposed to some commercial service's server.

I don't believe there are non-commercial services performing genetic analysis unless they are given grants to do research on genetics. The main DNA & ancestry services are: Ancestry, MyHeritage, 23&Me, FamilyTreeDNA, and there may be others.

One should also be aware of what is being tested. Most services test autosomal DNA. There there is special testing for Y-DNA and m-DNA, for paternal and maternal lineages, respectively.

Three principal types of genealogical DNA tests are available, with each looking at a different part of the genome and being useful for different types of genealogical research: autosomal (atDNA), mitochondrial (mtDNA), and Y-chromosome (Y-DNA).
https://en.wikipedia.org/wiki/Genealogical_DNA_test

There are pros and cons of using such services:
https://www.hopkinsmedicine.org/new...o-know-about-direct-to-consumer-genetic-tests

https://www.cnbc.com/2018/06/16/5-b...-with-consumer-genetic-testing-companies.html

https://www.cnet.com/health/medical/best-dna-test/

One big concern should be the security of one's personal information.
https://techcrunch.com/2023/12/04/23andme-confirms-hackers-stole-ancestry-data-on-6-9-million-users/

There are less common services that generally serve medical and law enforcement:

https://www.invitae.com/us/providers/how-to-order

https://www.genebygene.com/service/investigative-genetic-genealogy

Some folks get genetic testing for specific genes, or panels of specific genes/indicators of specific illnesses.

Disclaimer: No endorsement expressed or implied.
 
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Thank you Astronuc for putting this together! I have the impression, that the majority of these tests are somewhat US specific, in the sense that many people are there interested from which part of the world their ancestors came from. Personally, I would be more interested in archeogenetical comparisons, therefore I think that Y-DNA and m-DNA haplogroups would be more interesting for me, however, most packages concentrate on autosomal DNA.
 
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DrDu said:
I have the impression, that the majority of these tests are somewhat US specific, in the sense that many people are there interested from which part of the world their ancestors came from.
Both Ancestry and MyHeritage have different people, and Ancestry maybe mainly US, but they have made an effort to reach out to European nations. MyHeritage has quite a lot of Europeans. In both cases, I have found relatives from US, Canada, Australia/NZ, and UK, and perhaps more from EU on MyHeritage. Both use autosomal DNA. FamilyTreeDNA offers separate Y-DNA and m-DNA tests, as well as autosomal, and I plan on doing the full suite.
 
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I went for MyHeritage as I was more likely to have matches outside the US then in, as all my grandparents were immigrants. This turned out to be the case, as out of nearly 92,000 matches, only 4000 are in the US.
55,000 of the matches are from in Finland.
Another feature they have is "Genetic groups" which combines the results of other DNA kits and family trees to create maps of gene clusters over the years.
For example, this is the map generated from one(out of six, all Finnish)of my groups, showing the distribution for the 50 yr period prior to my paternal grandfather's birth:

gene groups.png

The brighter the dot, the larger the number of people represented. The arrow points to where my grandfather was born, and the dashed red line is the Arctic circle.
 
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1. What is ancient DNA and how is it used to study human ancestry?

Ancient DNA refers to genetic material extracted from the remains of ancient organisms, such as bones, teeth, or hair. In studying human ancestry, scientists analyze this DNA to understand genetic links and migrations of ancient populations. This helps in reconstructing the past movements, interactions, and evolutionary history of different human groups.

2. How can ancient DNA clarify the relationships between different ancient human species?

Ancient DNA has been pivotal in clarifying the relationships and interactions between different human species, such as Neanderthals, Denisovans, and modern humans. For instance, genomic studies have shown that modern humans interbred with Neanderthals and Denisovans, which has implications for our genetic makeup today, including some aspects of our immune system and physical characteristics.

3. What can ancient DNA tell us about the migration patterns of ancient populations?

By examining genetic markers in ancient DNA, scientists can trace the origins and migratory routes of ancient populations. This genetic evidence complements archaeological findings, providing a more detailed picture of how human populations moved across continents, adapted to new environments, and interacted with other groups. For example, studies of ancient DNA have shed light on the migration of early humans out of Africa and their subsequent spread across Europe, Asia, and the Americas.

4. How does ancient DNA research impact our understanding of genetic diseases?

Ancient DNA research can enhance our understanding of the origins and historical prevalence of genetic diseases. By studying the genetic material of ancient populations, researchers can identify when and where certain genetic mutations first appeared and how they were passed through generations. This information is crucial for understanding the evolutionary background of modern diseases and can potentially lead to new approaches in medical research and treatment strategies.

5. What are the ethical considerations in the study of ancient DNA?

The study of ancient DNA involves several ethical considerations, including the rights and concerns of indigenous and descendant communities related to the handling of ancestral remains. Ensuring transparency, gaining informed consent, and respecting cultural sensitivities are essential aspects of ethical research in this field. Additionally, there are concerns about the potential misuse of genetic data, making data security and privacy important issues as well.

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