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Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches

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Neural networks for modeling gene-gene interactions in association studies

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Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics

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Technical note: Quantitative measures of iris color using high resolution photographs

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Inbreeding coefficients and runs of homozygosity islands in Brazilian water buffalo

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Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects

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A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics

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The Puzzle of European Hair, Eye, and Skin Color

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SNP-microarrays can accurately identify the presence of an individual in complex forensic DNA mixtures

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Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population

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Genetic identification in the 21st century—Current status and future developments

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Recognizing Latinos’ range of skin pigment and phototypes to enhance skin cancer prevention

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The convergent evolution of blue iris pigmentation in primates took distinct molecular paths

Meyer, W. K., Zhang, S., Hayakawa, S., Imai, H., & Przeworski, M. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22280 · Cited by 18 · see citing works

Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma

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Advancement in Human Face Prediction Using DNA

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Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue‐brown eye color in the Japanese population

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Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

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Genetic analysis of the presumptive blood from Louis XVI, king of France

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Genetic variants associated with skin photosensitivity in a southern European population from Spain

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The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

Caliebe, A., Harder, M., Schuett, R., Krawczak, M., Nebel, A., & von Wurmb‐Schwark, N. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.167 · Cited by 14 · see citing works

Association of common genetic variants with human skin color variation in Indian populations

Sarkar, A., & Nandineni, M. R. (2017) · American Journal of Human Biology · doi:10.1002/ajhb.23068 · Cited by 14 · see citing works

Forensic SNP Genotyping with SN aPshot: Development of a Novel In‐house SBE Multiplex SNP Assay,

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Survival in Patients with Uveal Melanoma Is Linked to Genetic Variation at HERC2 Single Nucleotide Polymorphism rs12913832

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Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan

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Prediction of people’s origin from degraded DNA—presentation of SNP assays and calculation of probability

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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation

Huang, X., Wang, S., Li, J., & He, Y. (2021) · Biology Open · doi:10.1242/bio.056523 · Cited by 12 · see citing works

Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example

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Gender and eye colour prediction discrepancies: A reply to criticisms

Martínez‐Cadenas, C., Peña-Chilet, M., Llorca-Cardeñosa, M. J., Cervera, R., Ibarrola‐Villava, M., & Ribas, G. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.10.002 · Cited by 10 · see citing works

The Genetics and Evolution of Human Pigmentation

Guermazi, D., & Saliba, E. (2025) · Biology · doi:10.3390/biology14081026 · Cited by 8 · see citing works

Persistent Gene Flow Suggests an Absence of Reproductive Isolation in an African Antelope Speciation Model

Wang, X., Pedersen, C. T., Athanasiadis, G. I., Garcia‐Erill, G., Hanghøj, K., Bertola, L. D., Rasmussen, M. S., Schubert, M., Liu, X., Li, Z., et al. (2024) · Systematic Biology · doi:10.1093/sysbio/syae037 · Cited by 8 · see citing works

Human Phenotypic Diversity

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Study on the Correlation Between Iris Characteristics and Schizophrenia

Tian, C., Duan, L., Fu, C., He, J., Dai, J., & Zhu, G. (2022) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s361614 · Cited by 8 · see citing works

Identification of Polymorphisms in the HERC2-OCA2 Gene Locus and their Association with Feather Color in Quail

Zhang, X., Qi, Y., Pang, Y., Yuan, B., & Li, X. (2023) · The Journal of Poultry Science · doi:10.2141/jpsa.2023013 · Cited by 7 · see citing works

Eye color prediction using the IrisPlex system: a limited pilot study in the Iraqi population

Al-Rashedi, N. A. M., Mandal, A. M., & AlObaidi, L. A. H. (2020) · Egyptian Journal of Forensic Sciences · doi:10.1186/s41935-020-00200-8 · Cited by 7 · see citing works

Genetic examination of the putative skull of Jan Kochanowski reveals its female sex

Kupiec, T., & Branicki, W. (2011) · Croatian Medical Journal · doi:10.3325/cmj.2011.52.403 · Cited by 6 · see citing works

Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: Findings from a case–control study of diffuse large B-cell and follicular lymphoma

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Predicting target genes of non-coding regulatory variants with IRT

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Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives

Sessa, F., Dervišević, E., Esposito, M., Francaviglia, M., Chisari, M., Pomara, C., & Salerno, M. (2026) · Genes · doi:10.3390/genes17010059 · Cited by 6 · see citing works

Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins

Sanfilippo, P. G., Wilkinson, C. H., Ruddle, J. B., Zhu, G., Martin, N. G., Hewitt, A. W., & Mackey, D. A. (2014) · Clinical and Experimental Optometry · doi:10.1111/cxo.12209 · Cited by 5 · see citing works

Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations

Flores-López, B. A., López-Ceballos, A. G., López-Aguilar, C., Rico-Méndez, M. A., Acosta-Ramírez, K., Cano-Ravell, A., Gembe-Olivarez, G., López-Quintero, A., Aguilar-Velázquez, J., Ramírez-de-Arellano-Sánchez, J. A., et al. (2025) · Genes · doi:10.3390/genes16101227 · Cited by 4 · see citing works

A genome-wide epistatic network underlies the molecular architecture of continuous color variation of body extremities

Demars, J., Labrune, Y., Iannuccelli, N., Deshayes, A., Leroux, S., Gilbert, H., Aymard, P., Benitez, F., & Riquet, J. (2022) · Genomics · doi:10.1016/j.ygeno.2022.110361 · Cited by 4 · see citing works

Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency

Rivera‐Paredez, B., Hidalgo‐Bravo, A., López-Montoya, P., Becerra‐Cervera, A., Patiño, N., Denova‐Gutiérrez, E., Salmerón, J., & Velázquez‐Cruz, R. (2024) · Scientific Reports · doi:10.1038/s41598-024-68437-0 · Cited by 4 · see citing works

Is Eye Color Related to Dental Injection Pain? A Prospective, Randomized, Single-blind Study

Hyde, J., Fowler, S., Drum, M., Reader, A., Nusstein, J., & Beck, M. (2018) · Journal of Endodontics · doi:10.1016/j.joen.2018.01.009 · Cited by 4 · see citing works

Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes

López, S., García, I., Zubiaga, I. S., Sevilla, A., Izagirre, N., Vaca, C. D. L. R., & Alonso, S. (2014) · Annals of Human Biology · doi:10.3109/03014460.2014.965202 · Cited by 3 · see citing works

Prediction of Human Pigmentation Traits from DNA Polymorphisms

Branicki, W., & Kayser, M. (2015) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0023851 · Cited by 5 · see citing works

Dissecting dynamics and differences of selective pressures in the evolution of human pigmentationPreprint

Huang, X., He, Y., Wang, S., & Li, J. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/253963 · Cited by 3 · see citing works

Comprehensive in Silico Analyses of Single Nucleotide Variants of the Human Orthologues of 171 Murine Loci to Seek Novel Insights into the Genetics of Human Pigmentation

Ganguly, K., Sengupta, D., Sarkar, N., Mukherjee, N., Dutta, T., Saha, A., Saha, T., Ghosh, B., Chatterjee, S., Brahmachari, P., et al. (2022) · Proceedings of the Zoological Society · doi:10.1007/s12595-022-00449-y · Cited by 1 · see citing works

A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry

Abbatangelo, C., Durazo, F. L., Edwards, M., & Parra, E. J. (2026) · Scientific Reports · doi:10.1038/s41598-026-44580-8 · Cited by 2 · see citing works

Document Title: DNA Assay Development and Validation for Pigment-Related Features to Assist in the Identification of Missing Persons and Human Remains

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Forensic Ancestry and Phenotype SNP Analysis and Integration with Established Forensic Markers

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Letter to the Editor Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation:

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A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphismPreprint

Abbatangelo, C., Durazo, F. L., Edwards, M., & Parra, E. J. (2025) · bioRxiv · doi:10.1101/2025.07.20.665796 · Cited by 2 · see citing works

Genome-wide gene expression profiling of the Angelman syndrome mouse with Ube3a mutation : from genotype to phenotype

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Gene–gene interactions contribute to eye colour variation in humans

Pośpiech, E., Draus‐Barini, J., Kupiec, T., Wojas‐Pelc, A., & Branicki, W. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.38 · Cited by 72 · see citing works

Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals

Salvo, N. M., Andersen, J. D., Janssen, K., Meyer, O. S., Berg, T., Børsting, C., & Olsen, G. (2023) · Genes · doi:10.3390/genes14030698 · Cited by 12 · see citing works

A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry

Abbatangelo, C., Durazo, F. L., Edwards, M., & Parra, E. J. (2026) · Scientific Reports · doi:10.1038/s41598-026-44580-8 · Cited by 2 · see citing works

Investigating the genetic architecture of eye colour in a Canadian cohort

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

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