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Article

Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.

Scientific reports - 27 Feb 2017

Wollstein Andreas, Walsh Susan, Liu Fan, Chakravarthy Usha, Rahu Mati, Seland Johan H, Soubrane Gisèle, Tomazzoli Laura, Topouzis Fotis, Vingerling Johannes R, Vioque Jesus, Böhringer Stefan, Fletcher Astrid E, Kayser Manfred

Abstract excerpt

Success of genetic association and the prediction of phenotypic traits from DNA are known to depend on the accuracy of phenotype characterization, amongst other parameters. To overcome limitations in the characterization of human iris pigmentation, we introduce a fully automated approach that specifies the areal proportions proposed to represent differing pigmentation types, such as pheomelanin, eumelanin, and...

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PMID: 28240252
DOI: 10.1038/srep43359
PMCID: PMC5327401

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