Category Archives: Human Genomics

As a small child perusing old physical anthropology books I would occasionally stumble upon images of people of Oceanian stock with light hair color. I would wonder: is this a biological or cultural feature? In other words, were people bleaching their …

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A few people have forwarded me this paper, Identification of common variants associated with human hippocampal and intracranial volumes:
…Whereas many brain imaging phenotypes are highly heritable…identifying and replicating genetic influen…

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In a follow up to a post below, a new paper in PLoS Genetics has some data on American Hispanics. Specifically, Puerto Ricans, Dominicans, Mexicans, and Cubans, as well as assorted Central and South Americans. I am not too interested in the cases excep…

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PLoS ONE has another article up about admixture in Argentina. The interesting aspect is that in its self-conception Argentina, like the United States of America or Australia, is a European settler nation, and therefore unlike Mexico, Boliva, or Brazil,…

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The face is an important aspect of our phenotype. So important that facial recognition is one of many innate reflexive cognitive competencies. By this, I mean that you can recognize a face in a gestalt manner, just like you can recognize a set of three marbles. You don’t have to think about it in a […]

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There’s a report in Science about a new short paper about Neandertal pigmentation genetics. The context is this. First, in 2007 an ingenuous paper was published which inferred that it may be that Neandertals had red hair, at least based on an N = 2 from two divergent locations. The new study looks at three […]

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Dienekes has touched upon it in detail, so I don’t have much to add. Except for two points: 1) The ancestry cline here is not due to isolation-by-distance, but the expansion of the Austronesian population rather precipitously ~4,000 years ago. As Dienekes observed this was rather clear by non-genetic means; this is just icing on […]

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In the recent ‘do human races’ exist controversy Nick Matzke’s post Continuous geographic structure is real, “discrete races” aren’t has become something of a touchstone (perhaps a post like Cosma Shalizi’s on I.Q. and heritability).* In the post Matzke emphasized the idea of clines, roughly a continuous gradient of genetic change over space. Fair enough. […]

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Submitted for your approval, a very important post and preprint from Dr. Joseph Pickrell, Identifying targets of natural selection in human and dog evolution. If you read the preprint there’s a lot of good stuff. Dienekes highlighted the most relevant aspect: representation of genetic relationships with phylogenetic trees mask the likely reality of gene flow […]

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Well, the paper is finally out, New insights into the Tyrolean Iceman’s origin and phenotype as inferred by whole-genome sequencing. In case you don’t know, Ötzi the Iceman died 5,300 years ago in the alpine region bordering Austria and Italy. His seems to have been killed. And due to various coincidences his body was also […]

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After posting on Basque mtDNA I wanted to make something more explicit that I alluded to below, that uniparental lineages are highly informative, but they may not be representative of total genome content. This is plainly true in the case of mestizos from Latin America, but we don’t need genetics to point us in the […]

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Recently I was tipped off to the appearance of a new paper, Genome-Wide Association Study Identifies Chromosome 10q24.32 Variants Associated with Arsenic Metabolism and Toxicity Phenotypes in Bangladesh. This is the section which caught my eye: “Using data on urinary arsenic metabolite concentrations and approximately 300,000 genome-wide single nucleotide polymorphisms (SNPs) for 1,313 arsenic-exposed Bangladeshi […]

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There has been a lot of talk in the media about a new paper which reports that the Y chromosome is not deteriorating, as had been previously inferred from the data. In the 2004 Bryan Sykes wrote Adam’s Curse: A Future Without Men which used this model as a framing device (and naturally elicited great general […]

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Recently Jason Antrosio began a dialogue with readers of this weblog on the “race question.” More specifically, he asked that we peruse a 2009 review of the race question in the American Journal of Physical Anthropology. Additionally, he also pointed me to another 2009 paper in Genome Research, Non-Darwinian estimation: My ancestors, my genes’ ancestors. […]

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Greg Cochran pointed out something that I’d been considering about the MacArthur et al. paper: if the average human (OK, non-African human) has ~100 loss-of-function variants, then the standard deviation should be ~10. That’s because the distribution is presumably poisson, and variance = mean, and the square root of the of the variance (~100) is the […]

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Over at Genomes Unzipped Dr. Daniel MacArthur has a review up of a paper in Science where he is first author (note for grad students and aspiring post-docs, Dr. MacArthur is starting a new lab, where he posted an ungated version of the paper). He hits all the salient points, so I will cover two […]

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Uyghur girls A few people have pointed me to the paper, Implications for health and disease in the genetic signature of the Ashkenazi Jewish population. You should check it out if you don’t have academic access to papers, it’s not gated. Rather, I want to focus on a methodological issue. In the genetics reader survey […]

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I just attended a presentation where a researcher outlined how epigenomics could help patients with various grave illnesses. Normally I don’t focus on human medical genetics too much because it always depresses me. I don’t understand how medical geneticists don’t start wondering what hidden disease everyone around them has. In any case the researcher outlined […]

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Norway to bring cancer-gene tests to the clinic: Norway is set to become the first country to incorporate genome sequencing into its national health-care system. The Scandinavian nation, which has a population of 4.8 million, will use ‘next-generation’ DNA sequencers to trawl for mutations in tumours that might reveal which cancer treatments would be most […]

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Over at Harappa DNA Zack ran ChromoPainter/fineStructure on his South Asian data set and posted the results. The new method immediately makes a few things clear: 1) The “South Asians” in the HGDP data set that’s been used for so long are rather on the inbred side, and relatively genetically distinct as far as South Asian populations […]

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Razib Khan