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Walsh, Susan; Chaitanya, Lakshmi; Breslin, Krystal; Muralidharan, Charanya; Bronikowska, Agnieszka; Pospiech, Ewelina; Koller, Julia; Kovatsi, Leda; Wollstein, Andreas; Branicki, Wojciech; Liu, Fan and Kayser, Manfred (2017): Global skin colour prediction from DNA. In: Human Genetics, Vol. 136, No. 7: pp. 847-863

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Human skin colour is highly heritable and externally visible with relevance in medical, forensic, and anthropological genetics. Although eye and hair colour can already be predicted with high accuracies from small sets of carefully selected DNA markers, knowledge about the genetic predictability of skin colour is limited. Here, we investigate the skin colour predictive value of 77 single-nucleotide polymorphisms (SNPs) from 37 genetic loci previously associated with human pigmentation using 2025 individuals from 31 global populations. We identified a minimal set of 36 highly informative skin colour predictive SNPs and developed a statistical prediction model capable of skin colour prediction on a global scale. Average cross-validated prediction accuracies expressed as area under the receiver-operating characteristic curve (AUC) +/- standard deviation were 0.97 +/- 0.02 for Light, 0.83 +/- 0.11 for Dark, and 0.96 +/- 0.03 for Dark-Black. When using a 5-category, this resulted in 0.74 +/- 0.05 for Very Pale, 0.72 +/- 0.03 for Pale, 0.73 +/- 0.03 for Intermediate, 0.87 +/- 0.1 for Dark, and 0.97 +/- 0.03 for Dark-Black. A comparative analysis in 194 independent samples from 17 populations demonstrated that our model outperformed a previously proposed 10-SNP-classifier approach with AUCs rising from 0.79 to 0.82 for White, comparable at the intermediate level of 0.63 and 0.62, respectively, and a large increase from 0.64 to 0.92 for Black. Overall, this study demonstrates that the chosen DNA markers and prediction model, particularly the 5-category level;allow skin colour predictions within and between continental regions for the first time, which will serve as a valuable resource for future applications in forensic and anthropologic genetics.

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