Fig. 8: Facial PRS profiles of archaic humans.

a Mapping facial PRS profiles of Neanderthals to 16 facial features reflected by skulls. Left panel: PRS (absolute values > 0.4) are sorted and summarized by their facial effects. Right panel: 16 known Neanderthal facial features categorized by different colour according to facial regions, with lines indicating enhancement (solid) or reduction (dashed) predicted by the corresponding PRS. Triangles represent consistent directional predictions, including upward (enhancement) or downward (reduction) those, and circles denote inconsistencies. The diamonds highlight PRS not corresponding to known features. b Comparison of concordance in Neanderthal facial features based on phenotypic and genetic differences. The bar graph assessed the concordance between phenotypic descriptions from archaeological studies and genetic predictions using PRS for 16 facial features of Neanderthals. Each bar represents the number of facial features displaying concordant (orange), discordant (purple), or inconsistent (green) results based on the alignment between skull morphology differences and the direction of mean PRS differences for Neanderthals relative to EUR (see the “Methods” section). The analysis involved 10,000 permutations using 357 MAF-matched SNPs to generate null distributions and assess the statistical significance of the observed patterns with three one-sided significance levels noted at the top. c Same form of illustration as a but displayed the difference between Denisovans and Neanderthals using the PRS difference (Denisovan PRS minus Neanderthal PRS average).