What the 2023 genome can say with confidence: Ötzi had brown eyes. The genetic variants associated with eye color are well characterized and relatively straightforward to predict from genomic data. The 2012 study already found this, and the 2023 study did not find reason to revise it.

What the 2023 genome can say with moderate confidence: Ötzi had a predisposition toward male-pattern baldness. The alleles involved in male-pattern hair loss are reasonably well characterized, and the 2023 genome carried them clearly. The convergence of this finding with the near-absence of hair on the mummy is striking. What it cannot say is exactly how bald he was at the time of death, or whether environmental or health factors had altered the typical trajectory of his hair loss.

What the 2023 genome can say with moderate confidence: Ötzi’s skin was darker than modern southern Europeans and darker than the standard reconstruction depicted. The 170-SNP model used to predict skin pigmentation, based on UK Biobank associations, produced a score higher than a modern Sardinian but lower than the ancient LBK farmer and Loschbour hunter-gatherer in the same analysis. The model is well-validated for modern European populations and is the best available tool for pigmentation prediction from ancient DNA. It carries uncertainty because the GWAS associations it’s built on may not transfer perfectly across five thousand years of genetic change, and because skin pigmentation is influenced by gene-environment interactions that the genomic model cannot capture.

What the 2023 genome cannot say: exact skin shade, specific facial features, body proportions (beyond what the physical mummy shows), hair texture, or anything requiring information not encoded in the variants that have been associated with appearance in modern GWAS studies.

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