john hawks weblog

paleoanthropology, genetics and evolution

Genographic Project

  • Geno2 users showing unexpected Denisovan ancestry

    Sun, 2013-01-06 23:08 -- John Hawks

    I have been excited to hear in the last few days from several readers who have gotten results from the new Genographic Geno2 genotyping chip. One aspect of the result reporting is a person's estimated proportion of Neandertal ancestry, which is a simple percentage. This is like the report from 23andMe, and should be a pretty straightforward estimate given a model of Neandertal-human genetic similarity from complete genomes.

    Another aspect of the Genographic results is an estimated proportion of Denisovan ancestry. This might seem a bit surprising, as for most participants in the project who lack Polynesian or Melanesian ancestry this proportion should be extremely low. I've written about Denisovan DNA similarity with living peoples a few times ("Denisovan DNA in the islands, and an Australian genome", "How widespread is Denisovan ancestry today?"). Based on the science published to date, I would have expected the Geno2 calculations just to confirm the very low ancestry estimation found in last year's research based on genotyping Asian and Australasian populations.

    So I have been extraordinarily surprised to see that people are getting Geno2 results with up to 6% Denisovan ancestry!

    What gives? None of my correspondents so far has anything other than European self-reported ancestry, making it seem very unlikely that have substantial Denisovan ancestry.

    The first time I heard from a reader with this result, my immediate reaction was that there must be some problem with the algorithm. This one in particular wouldn't be to hard to get wrong considering the rarity of whole genome evidence from populations known to have substantial Denisovan ancestry. Or possibly, some problem with an individual's genotype chip data might trigger the algorithm to look more Denisovan. For many loci that vary among humans, Denisovans are very unlikely to have the derived human variant; so an individual with an unusual proportion of ancestral homozygote loci might look Denisovan in a human-Denisovan comparison.

    However, this is all speculation without knowing the details of the Genographic analysis. And as I hear from more people with varied results, I am having trouble thinking of how data errors could be patterned. It's a tough one to think about because of the unique aspects of the Geno2 chip, and until I've gotten a feel for results from that platform compared to other datasets I probably won't have a solid idea.

    I should point out that if there is a problem with the algorithm underlying ancestry prediction from Denisova, it almost certainly affects the Neandertal ancestry estimate also. The estimation from both these ancient genomes involves the same procedure, although with Denisovan DNA it requires subtracting out the DNA similarity with Neandertals first.

    So I would be interested in hearing from anyone who is surprised to find that they have Denisovan ancestry. My preliminary assumption it that the result is spurious but I'll try to figure out if there is a possibility of some Denisovan fraction beyond what has been shown in published work.

    Synopsis: 
    Trying to diagnose the odd results from a new genotyping project
  • The H preparation

    Tue, 2012-05-08 08:48 -- John Hawks

    Razib Khan comments on the current round of Henry Louis Gates ancestry programming: "Finding fake roots", and "Reification is alright by me! Razib notes that the criteria that tell many subjects that their ancestry is a mixture of different populations are conditioned on assumptions that don't work at all for South Asians. From the latter:

    In my post below some commenters argued that obviously implausible inferences from a thin set of reference populations are acceptable considering Henry Louis Gates Jr’s target audience. But that really wasn’t my main point. Rather, it was that he was eliding the distinction between uniparental markers, and the clusters generated by modeled based ancestry assignment algorithms, and ascribing the phylogenies of the former to the latter. It is important to note that categories like “Europeans” are only approximations. But they’re damn good approximations today! Nevertheless, note the qualification of time: they may have basically no meaning at some point in the recent past. They’re powerful when it comes to precisely partitioning modern variation, but they don’t tell us the history of that variation.

    The uniparental marker "interpretations" given to people doing genealogical work has become increasingly comical in its distance from what we now know about ancient variation. For example, I carry mtDNA haplogroup H, and here's what the Genographic Project tells me about that history in their "Atlas of the Human Journey":

    Around 15,000 to 20,000 years ago, colder temperatures and a drier global climate locked much of the world's fresh water at the polar ice caps, making living conditions near impossible for much of the northern hemisphere. Early Europeans retreated to the warmer climates of the Iberian Peninsula, Italy, and the Balkans, where they waited out the cold spell. Their population sizes were drastically reduced, and much of the genetic diversity that had previously existed in Europe was lost. Beginning about 15,000 years ago -- after the ice sheets had begun their retreat -- humans moved north again and recolonized western Europe. By far the most frequent mitochondrial lineage carried by these expanding groups was haplogroup H. Because of the population growth that quickly followed this expansion, this haplogroup now dominates the European female landscape.

    Here, a very common mtDNA haplogroup today is given its own origin myth, complete with a glacial refugium and massive expansion and dispersal. The text goes on to explain how this European haplogroup spread right out of southern Europe into central Asia, where today -- surprisingly -- it is even more variable and shows less sign of expansion. Notice how precise the story sounds, a fleshed-out history for people looking to connect their roots to European prehistoric events.

    Why do I say comical? We have ancient mtDNA from all over Europe now, from Neolithic and pre-Neolithic people, showing that haplogroup H was barely there before farming.

    I don't mean to single out Genographic for this issue, in fact the whole edifice of genealogical interpretation is built on assumptions about history that are currently known to be false. We can do much better than this, I think. But many of the same characters who failed five or six years ago keep plugging at it, persisting in describing a distorted version of human history.

    UPDATE (2012-05-08): The thing that really bugs me, is that the amount of money spent producing a season of one of these programs would be more than enough to get some of us to straighten some of these problems out. Population genetics is a lot cheaper than media. Or, to put it in a more inspiring way: any media organization that is willing to spring for a couple of postdocs along with their program can show some real science instead of making stuff up. Just saying...

  • Darwin's Y

    Fri, 2011-04-01 08:20 -- John Hawks

    The Telegraph has done a puff piece about the Genographic testing of Charles Darwin's great-great-grandson.

    Last week I got to attend an incredible panel discussion that focused on the issue of genetic testing and identity. How and why do people connect the results of a genotyping test to their deep conception of themselves?

    The Genographic results are only Y chromosome and mtDNA, a tiny fraction of an individual's ancestry. Charles Darwin only accounts for around 6 percent of this descendant's ancestry (possibly a shade more genetically, considering the inbreeding). The Y chromosome is not the seat of the soul. And yet:

    Mr Darwin, whose great-grandfather was Darwin's astronomer son George, said the test showed that the desire for knowledge and thirst for discovery was in his genetic makeup.

    "I was always a bit concerned that I hadn't inherited Charles Darwin's scientific abilities, but I hoped I had inherited his adventurous abilities, his desire to go over the hill and see what was on the other side," he said.

    Interesting how people construct a story about the connection between genes and identity, isn't it?

  • "The Human Family Tree"

    Mon, 2009-08-31 16:01 -- John Hawks

    We flipped the TV to the National Geographic Channel last night to watch "The Human Family Tree" special. I like the premise of testing the relations of people from one mixed location -- they picked Queens, NY. And having Kevin Bacon tell us how closely connected we all are -- that's what I call a genius casting choice.

    So I'm interested, but as the show started, it gave a scary warning about "cultural situations" and the narration started talking about "more than sex". It wasn't great kids bedtime material for us yesterday. Maybe I'll catch a rebroadcast.

Subscribe to Genographic Project

Neandertals

For years, I've worked on their bones. Now I'm working on their genes. Read more about the science studying these ancient people.

Denisova

From a finger bone of an ancient human came the record of a completely unexpected population. My lab is working on the science of the Denisova genome.

Acceleration

The advent of agriculture caused natural selection to speed up greatly in humans. We're uncovering some of the ways that populations have rapidly changed during the last 10,000 years.

Malapa

Just outside Johannesburg, the Malapa site is producing some of the most exciting finds in human evolution. This site is the headquarters of the Malapa Soft Tissue Project.