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Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage
Open accessAbstract
Forensic DNA Phenotyping or 'DNA intelligence' tools are expected to aid police investigations and find unknown individuals by providing information on externally visible characteristics of unknown suspects, perpetrators and missing persons from biological samples. This is especially useful in cases where conventional DNA profiling or other means remain non-informative. Recently, we introduced the HIrisPlex system, capable of predicting both eye and hair colour from DNA. In the present developmental validation study, we demonstrate that the HIrisPlex assay performs in full agreement with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines providing an essential prerequisite for future HIrisPlex applications to forensic casework. The HIrisPlex assay produces complete profiles down to only 63 pg of DNA. Species testing revealed human specificity for a complete HIrisPlex profile, while only non-human primates showed the closest full profile at 20 out of the 24 DNA markers, in all animals tested. Rigorous testing of simulated forensic casework samples such as blood, semen, saliva stains, hairs with roots as well as extremely low quantity touch (trace) DNA samples, produced complete profiles in 88% of cases. Concordance testing performed between five independent forensic laboratories displayed consistent reproducible results on varying types of DNA samples. Due to its design, the assay caters for degraded samples, underlined here by results from artificially d…
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“Skin color (assessed genetically with the highly accurate predictor [79,93] was associated with cognitive ability (Model 1b, Table 5), but made no significant incremental contribution when ancestry was also in the model (Model 2, Table 5).”
From Global Ancestry and Cognitive Ability (2019) · cites this paper as [93]
In the citing paper
“Skin color (assessed genetically with the highly accurate predictor [79,93] was associated with cognitive ability (Model 1b, Table 5), but made no significant incremental contribution when ancestry was also in the model (Model 2, Table 5).”
From Global Ancestry and Cognitive Ability (2019) · cites this paper as [93]
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Cites
Valverde, P., Healy, E., Jackson, I., Rees, J. L., & Thody, A. J. (1995) · Nature Genetics · doi:10.1038/ng1195-328 · Cited by 999
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · cited 2×
“Combining our previous eye colour prediction system IrisPlex with knowledge from early systems used for hair colour prediction [1,10,27], and considering knowledge from our previous study where we established the hair colour predictive value of a larger number of hair colour associated DNA variants [28], the HIrisPlex…”
BackgroundMethodHan, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499
Two newly identified genetic determinants of pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.160 · Cited by 368
Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L. (2008) · Human Genetics · doi:10.1007/s00439-007-0460-x · Cited by 346
Kayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.003 · Cited by 260
Self-citationDuffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2007) · The American Journal of Human Genetics · doi:10.1086/510885 · Cited by 240
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., Zhu, G., Larsson, M., Duffy, D. L., Montgomery, G. W., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000934 · Cited by 191
Self-citation
Flagged first, then by citations
Research works printed but not linked: 31
- Branicki, 2008, Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method, Ann. Hum. Genet., 72, 184, 10.1111/j.1469-1809.2007.00407.x · DOI
- Sturm, 2009, Genetics of human iris colour and patterns, Pigment Cell Melanoma Res., 22, 544, 10.1111/j.1755-148X.2009.00606.x · DOI
- Mengel-From, 2009, Genetic determinants of hair and eye colours in the Scottish and Danish populations, BMC Genet., 10, 88, 10.1186/1471-2156-10-88 · DOI
- Valenzuela, 2010, Predicting phenotype from genotype: normal pigmentation, J. Forensic Sci., 55, 315, 10.1111/j.1556-4029.2009.01317.x · DOI
- Spichenok, 2011, Prediction of eye and skin color in diverse populations using seven SNPs, Forensic Sci. Int. Genet., 5, 472, 10.1016/j.fsigen.2010.10.005 · DOI · Paper page
- Pospiech, 2011, Gene–gene interactions contribute to eye colour variation in humans, J. Hum. Genet., 56, 447, 10.1038/jhg.2011.38 · DOI
- Ruiz, 2013, Further development of forensic eye color predictive tests, Forensic Sci. Int. Genet., 7, 28, 10.1016/j.fsigen.2012.05.009 · DOI
- Kanetsky, 2002, A polymorphism in the agouti signaling protein gene is associated with human pigmentation, Am. J. Hum. Genet., 70, 770, 10.1086/339076 · DOI
- Graf, 2005, Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation, Hum. Mutat., 25, 278, 10.1002/humu.20143 · DOI · Paper page
- Branicki, 2008, Association of the SLC45A2 gene with physiological human hair colour variation, J. Hum. Genet., 53, 966, 10.1007/s10038-008-0338-3 · DOI
- Shekar, 2008, Spectrophotometric methods for quantifying pigmentation in human hair—influence of MC1R genotype and environment, Photochem. Photobiol., 84, 719, 10.1111/j.1751-1097.2007.00237.x · DOI
- Kayser, 2009, DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations, Forensic Sci. Int. Genet., 3, 154, 10.1016/j.fsigen.2009.01.012 · DOI
- Kayser, 2011, Improving human forensics through advances in genetics, genomics and molecular biology, Nat. Rev. Genet., 12, 179, 10.1038/nrg2952 · DOI
- Liu, 2009, Eye color and the prediction of complex phenotypes from genotypes, Curr. Biol., 19, 192, 10.1016/j.cub.2009.01.027 · DOI
- Walsh, 2011, IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information, Forensic Sci. Int. Genet., 5, 170, 10.1016/j.fsigen.2010.02.004 · DOI
- Walsh, 2012, DNA-based eye colour prediction across Europe with the IrisPlex system, Forensic Sci. Int. Genet., 6, 330, 10.1016/j.fsigen.2011.07.009 · DOI
- Walsh, 2011, Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence, Forensic Sci. Int. Genet., 5, 464, 10.1016/j.fsigen.2010.09.008 · DOI
- Walsh, 2013, The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA, Forensic Sci. Int. Genet., 7, 98, 10.1016/j.fsigen.2012.07.005 · DOI · Paper page
- Grimes, 2001, Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype, Forensic Sci. Int., 122, 124, 10.1016/S0379-0738(01)00480-7 · DOI
- Branicki, 2011, Model-based prediction of human hair color using DNA variants, Hum. Genet., 129, 443, 10.1007/s00439-010-0939-8 · DOI
- 2004, Revised validation guidelines, Forensic Sci. Commun., 6
- Erler, 2004, Development of Y-chromosomal microsatellite markers for nonhuman primates, Mol. Ecol., 13, 2921, 10.1111/j.1365-294X.2004.02304.x · DOI
- Freire-Aradas, 2012, A new SNP assay for identification of highly degraded human DNA, Forensic Sci. Int. Genet., 6, 341, 10.1016/j.fsigen.2011.07.010 · DOI
- Tucker, 2012, Developmental validation of the PowerPlex® ESX 16 and PowerPlex® ESX 17 Systems, Forensic Sci. Int. Genet., 6, 124, 10.1016/j.fsigen.2011.03.009 · DOI
- Mulero, 2008, Development and validation of the AmpFℓSTR® MiniFilerTM PCR amplification kit: a MiniSTR multiplex for the analysis of degraded and/or PCR inhibited DNA, J. Forensic Sci., 53, 838, 10.1111/j.1556-4029.2008.00760.x · DOI
- Liu, 2011, Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example, PLoS ONE, 6, e28145, 10.1371/journal.pone.0028145 · DOI
- Børsting, 2009, Validation of a single nucleotide polymorphism (SNP) typing assay with 49 SNPs for forensic genetic testing in a laboratory accredited according to the ISO 17025 standard, Forensic Sci. Int. Genet., 4, 34, 10.1016/j.fsigen.2009.04.004 · DOI
- Sobrino, 2005, SNPs in forensic genetics: a review on SNP typing methodologies, Forensic Sci. Int., 154, 181, 10.1016/j.forsciint.2004.10.020 · DOI
- Bradley, 2009, Brief communication: blue eyes in lemurs and humans: same phenotype, different genetic mechanism, Am. J. Phys. Anthropol., 139, 269, 10.1002/ajpa.21010 · DOI
- Draus-Barini, 2013, Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains, Invest. Genet., 4, 3, 10.1186/2041-2223-4-3 · DOI
- Hart, 2013, Improved eye- and skin-color prediction based on 8 SNPs, Croat. Med. J., 54, 248, 10.3325/cmj.2013.54.248 · DOI
Cited by
Sorted by citations
Items 101–200 of 215
Senst, A., Caliebe, A., Drum, M., Cossu, C., Zieger, M., Scheurer, E., & Schulz, I. (2022) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2022.102790 · Cited by 11
“nl/) [56-58] and estimation of biogeographic ancestry was obtained from ConvergeTM Software.”
MethodInsights on hair, skin and eye color of ancient and contemporary Native Americans
Carratto, T. M. T., Marcorin, L., Debortoli, G., Hünemeier, T., Norton, H., Parra, E. J., Castelli, E. C., & Mendes‐Junior, C. T. (2020) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2020.102335 · Cited by 14
Evaluation of the HIrisPlex-S system in a Brazilian population sample
Carratto, T. M. T., Marcorin, L., Debortoli, G., Silva, G., Fracasso, N., Oliveira, M. N. L., Pereira, A., Silva, A. B., Donadi, E., Simões, A., et al. (2019) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2019.10.180 · Cited by 11
Aguilar-Velázquez, J., García-Aceves, M. E., Córdova-Mercado, M. F., Guardado-Estrada, M., Peña-Durán, E., Villavicencio-Queijeiro, A., Salas-Salas, O., Coronado-Ávila, C. E., Cárdenas-Monroy, C., Ramos-González, B., et al. (2024) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-024-03366-1 · Cited by 10
“For phenotype interpretation, the highest probability category approach (HPCA) [20] was employed, which provides the following outcomes: black, dark brown/ black, brown/dark brown, brown, dark blond/brown, blond/ dark blond, blond, and red.”
Predicting adult height from DNA variants in a European-Asian admixed population
Jing, X.-X., Sun, Y., Zhao, W.-T., Gao, X., Ma, M., Liu, F., & Li, C.-X. (2019) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-019-02039-8 · Cited by 10
Self-citationRetractedHoole, M., Sheridan, A., Boyle, A., Booth, T., Brace, S., Diekmann, Y., Olalde, Í., Thomas, M., Barnes, I., Evans, J. A., et al. (2018) · Proceedings of the Society of Antiquaries of Scotland · doi:10.9750/psas.147.1250 · Cited by 8
“Physical characteristics and lactose intolerance Ava’s genomic data were inputted into the Hirisplex DNA phenotyping web tool using the Harvard Medical School capture array to produce predictions of her hair and eye pigmentation (Walsh et al 2014).”
MethodZhur, K. V., Сергеевич, Ш. Ф., Sedov, V. V., Dobrovolskaya, M. V., Volkov, V. G., Maximov, N. G., Seslavin, A. N., Makarov, N., & Prokhortchouk, E. (2023) · Acta Naturae · doi:10.32607/actanaturae.23425 · Cited by 11
Predicting Eye and Hair Color in a Turkish Population Using the HIrisPlex System
Ilksen Sari, O., Simsek, S. Z., Filoglu, G., & Bulbul, O. (2022) · Genes · doi:10.3390/genes13112094 · Cited by 9
“The prediction results for intermediate eye color in ividuals were, however, mainly false positives, either blue r brown [15].”
BackgroundMethodInfluentialTowards Forensic DNA Phenotyping for Predicting Visible Traits in Dogs
Berger, C., Heinrich, J., Berger, B., Hecht, W., & Parson, W. (2021) · Genes · doi:10.3390/genes12060908 · Cited by 9
Jorgenson, E., Choquet, H., Yin, J., Hoffmann, T. J., Banda, Y., Kvale, M. N., RISCH, N. J., Schaefer, C. A., & Asgari, M. M. (2020) · Communications Biology · doi:10.1038/s42003-020-01461-8 · Cited by 10
Whole-genome ancestry of an Old Kingdom Egyptian
Morez, A., Irish, J. D., Cooke, A., Anastasiadou, K., Barrington, C., Gilardet, A., Kelly, M., Silva, M. S. D., Speidel, L., Tait, F., et al. (2025) · Nature · doi:10.1038/s41586-025-09195-5 · Cited by 20
Gianni, G. B., Marzullo, M., Cattaneo, C., Biehler‐Gomez, L., Mazzarelli, D., Ricciardi, V., Müller, W., Coppa, A., McLaughlin, R., Motta, L., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-61052-z · Cited by 8
Bardan, F., Higgins, D., & Austin, J. J. (2022) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2022.102822 · Cited by 8
Genetic predictions of eye and hair colour in the Danish population.
Cabrejas-Olalla, A., Jørgensen, F. G., Cheng, J., Kjærgaard, P. C., Schierup, M., Mailund, T., & Athanasiadis, G. (2025) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2025.103267 · Cited by 7
Evaluation of loci to predict ear morphology using two SNaPshot assays
Noreen, S., Ballard, D., Mehmood, T., Khan, A., Khalid, T., & Rakha, A. (2022) · Forensic Science Medicine and Pathology · doi:10.1007/s12024-022-00545-7 · Cited by 7
Hofmanová, Z., Reyna-Blanco, C. S., de Becdelièvre, C., Schulz, I., Blöcher, J., Jovanovic, J. V., Winkelbach, L., Figarska, S. M., Schulz, A., Porčić, M., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.24.497512 · Cited by 7
Ancestry and phenotype predictions from touch DNA using massively parallel sequencing
Young, J., Power, D., Kanokwongnuwut, P., & Linacre, A. (2020) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-020-02398-7 · Cited by 7
Phenotype prediction accuracy – A Swedish perspective
Junker, K., Staadig, A., Sidstedt, M., Tillmar, A. O., & Hedman, J. (2019) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2019.10.022 · Cited by 8
Population data using Precision ID Identity Panel in a Chinese Han population from Hebei Province.
Sun, L., Fu, L.-H., Liu, Q., Zhou, J., Ma, C.-L., Cong, B., & Li, S.-J. (2019) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2019.07.009 · Cited by 7
A mini-multiplex SNaPshot assay for the triage of degraded human DNA.
Bardan, F., Higgins, D., & Austin, J. (2018) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2018.02.006 · Cited by 7
Forensic DNA Phenotyping: A Review in Korean Perspective
Seo, H., Cho, S., Lee, J. H., Lyoo, S., Kim, M., & Lee, S.-D. (2017) · Korean Journal of Legal Medicine · doi:10.7580/kjlm.2017.41.2.23 · Cited by 7
“Moreover, HERC2 gene was discovered to be strongly associated with blue eye color; further analysis has presented that rs12913832 in HERC2 was responsible for determining blue and brown eye color variation [3,9,16-18], and also has the highest discrimination power for predicting either light or dark iris color among v…”
BackgroundMethodResultInfluentialPredicting Physical Features and Diseases by DNA Analysis: Current Advances and Future Challenges
de Cerqueira, C. C. S., Ramallo, V., Hünemeier, T., de Azevedo, S., & Quinto‐Sánchez, M. (2016) · Journal of Forensic Research · doi:10.4172/2157-7145.1000336 · Cited by 9
“There are at least ten published studies presenting methods to explore the predictive values of combinations of SNP alleles of pigmentation phenotypes (skin, eye and hair colour) and presence/absence of freckles [33-42], two of which [34,40] have already been validated [43-45].”
Андреева, Т. В., Дмитриевна, С. А., Gusev, F. E., Malyarchuk, A. B., Доценко, Г. С., Dudko, N. A., Plotnikova, M. Y., Станиславовна, К. С., Manakhov, A. D., Ustkachkintseva, T. V., et al. (2025) · Science Advances · doi:10.1126/sciadv.ads8179 · Cited by 8
Watson, J. L., Grisedale, K., McNevin, D., & Ward, J. (2025) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-025-03492-4 · Cited by 6
Rahat, M. A., Akbar, F., Rasool, A., Ilyas, M., Rakha, A., Shams, S., Jelani, M., Bibi, F., Shirah, B., Abdulkareem, A., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11041228 · Cited by 6
“Based on the previous study [22], raw probabilities were used, and the category was assigned using the highest probability in each category.”
MethodCzado, N., LaRue, B., Wheeler, A., Houston, R. M., Holmes, A., Grisedale, K., & Hughes, S. (2023) · Journal of Forensic Sciences · doi:10.1111/1556-4029.15200 · Cited by 6
Rauf, S., Austin, J., Higgins, D., & Khan, M. R. (2022) · PLoS ONE · doi:10.1371/journal.pone.0264125 · Cited by 6
“An example is recent introduction of HIrisPlex-S system that covers additional 17 SNPs in its panel that PLOS ONE | https://doi.org/10.1371/journal.pone.0264125 February 17, 2022 14 / 18 facilitates prediction of skin colour along with hair and eyes.”
BackgroundMethodInfluentialHuszar, T., Gettings, K., & Vallone, P. (2021) · Genes · doi:10.3390/genes12111739 · Cited by 6
Andersen, J. D., Meyer, O. S., Simão, F., Jannuzzi, J., de Carvalho, E. F., Andersen, M. M., Pereira, V., Børsting, C., Morling, N., & Gusmão, L. (2020) · International Journal of Legal Medicine · doi:10.1007/s00414-020-02307-y · Cited by 7
Algee-Hewitt, B. F. B., Kim, J., & Hughes, C. E. (2018) · Human Biology: The Official Publication of the American Association of Anthropological Genetics · doi:10.13110/humanbiology.90.1.04 · Cited by 6
Inference of human pigmentation from ancient DNA by genotype likelihoods
Perretti, S., Santos, P., Vizzari, M. T., Tassani, E., Benazzo, A., Ghirotto, S., & Barbujani, G. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2502158122 · Cited by 7
Pajnič, I. Z., Leskovar, T., & Črešnar, M. (2023) · International Journal of Legal Medicine · doi:10.1007/s00414-023-03032-y · Cited by 6
“This can be used not only in a forensic context [6, 16, 40, 44, 48, 74, 78] but also in ancient DNA (aDNA) analysis to obtain information about externally visible characteristics of individuals from past human populations.”
BackgroundMethodHohl, D. M., González, R., Meztler, G. P. D. S., Rico, J. P., Dejean, C. B., Avena, S. A., Gutiérrez, M. D. L. Á., & Catanesi, C. I. (2022) · Annals of Human Genetics · doi:10.1111/ahg.12480 · Cited by 7
“It is also important to consider that the setting of the IrisPlex system did not include individuals from all countries of Europe, butmostly fromnorthern ones (Walsh et al., 2014).”
BackgroundMethodResultInfluentialWen, D., Shi, J., Liu, Y., He, W., Qu, W., Wang, C., Xing, H., Cao, Y., Li, J., & Zha, L. (2022) · Forensic Science International · doi:10.1016/j.forsciint.2022.111412 · Cited by 6
Prediction of Human Pigmentation Traits from DNA Polymorphisms
Branicki, W., & Kayser, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0023851 · Cited by 4
Self-citationGenomic Applications in Forensic Medicine
Børsting, C., & Morling, N. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-420196-5.00022-8 · Cited by 6
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
“A wide range of features has been explored for their potential use in FDP, including predicting pigmentation of iris, hair, and skin [9]; determining eyebrow color [10]; identifying the presence of freckles [11]; assessing hair shape [12]; detecting male pattern baldness [13]; and estimating body…”
Nordfors, U., Peltola, S., O’Sullivan, R. J., Valtueña, A. A., Lamnidis, T. C., Majander, K., Traverso, L., Krause, J., Salmela, E., & Onkamo, P. (2025) · iScience · doi:10.1016/j.isci.2025.113086 · Cited by 3
Rath, K., Rothe, J., Saulich, F., Nagy, M., & Melisch, C. (2024) · Journal of Archaeological Science: Reports · doi:10.1016/j.jasrep.2023.104337 · Cited by 4
Preserving Privacy for Distributed Genome-Wide Analysis Against Identity Tracing Attacks
Zhang, Y., Bai, G., Li, X., Nepal, ., Grobler, M. M., Chen, C., & Ko, R. K. L. (2022) · IEEE Transactions on Dependable and Secure Computing · doi:10.1109/tdsc.2022.3186672 · Cited by 7
“The applicable techniques include DNA phenotyping [13], [40], [66] and genealogical triangulation [21].”
MethodGenetic and isotope analysis of a triple burial from medieval St. Peter's cemetery in Cölln/Berlin.
Rath, K., Käßner, A., Melisch, C., Powers, N., Tichomirowa, M., Nagy, M., Friedrich, R., Riege, J., & Rothe, J. (2022) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2022.102718 · Cited by 4
Afra, K., Algee-Hewitt, B. F. B., & Hamilton, M. (2021) · Human Biology: The Official Publication of the American Association of Anthropological Genetics · doi:10.1353/hub.2021.0004 · Cited by 4
“…phenotypic markers on the face (Shaffer et al. 2016), as well as direct phenotypic traits, such as eye color and hair color (Liu et al. 2009; Walsh et al. 2012; Chaitanya et al. 2018), and on integrating skin color to use for various forensic applications (Walsh et al. 2014; Maroñas et al. 2015).”
BackgroundThe accuracy of predicting eye and hair pigmentation based on genetic markers in Russian populations
Balanovsky, O., Petrushenko, V., Gorin, I., Kagazezheva, Z., Markina, N., Kostryukova, E., Leybova, A., Maurer, A., & Balanovska, E. (2019) · IMMUNO-ONCOLOGY · doi:10.24075/brsmu.2019.069 · Cited by 4
“For genotyping, we used the most comprehensive, state-of-the art, popular HirisPlex-S system that has proven its accuracy in the studies of modern and ancient Western European populations [8, 11, 17].”
MethodDefrancesco, L. (2018) · Nature Biotechnology · doi:10.1038/nbt.4057 · Cited by 4
Walton, A., Marsh, W. A., Strang, A., Seaman, J., Doorn, K. V., Eckardt, H., Wilkinson, C. M., Barnes, I., & Brace, S. (2025) · Journal of Archaeological Science · doi:10.1016/j.jas.2025.106445 · Cited by 2
Pryor, Y., Migliore, N. R., Alava, D. R., Gerlando, R. D., Tineo, D. H. T., Gusmão, L., González‐Andrade, F., Achilli, A., & Lindo, J. (2025) · Current Zoology · doi:10.1093/eep/dvaf026 · Cited by 3
“These included the Epidermal Growth Factor Receptor ( EGFR ) and the OCA2 Melanosomal Trans-membrane Protein ( OCA2) genes, which overlapped within DMRs satisfying all significance metrics (DM > 25% and q 0.01) [ 57– 60 ].”
InfluentialGenomic profiling of a six-generation patrilineal family of the Ming-Qing dynasties in China
Wang, J., Zhang, T., Jia, X., Zhang, Z., He, J., Ning, C., Wang, J., Yang, T., Wang, G., Pang, Y., et al. (2025) · iScience · doi:10.1016/j.isci.2025.112968 · Cited by 3
“For appearance phenotype prediction, we used a customly generated shell script to extract pileup read base info at the 41 HIrisPlex-S SNP sites 25–27 for all sequenced individuals.”
Sadam, M., Sidstedt, M., Järving, R., Kampmann, M., Mogensen, H. S., Hanssen, E. N., Janssen, K., Salvo, N. M., Hedman, J., & Väli, M. M. (2025) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2025.103285 · Cited by 2
An investigation of downstream processing methods for challenging skeletal samples.
Snedeker, J., Peck, M., Russell, D. A., Holmes, A., Neal, C. M., Reedy, C. R., Hughes, S., & Houston, R. (2024) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2024.103209 · Cited by 3
Skull and long bones – Forensic DNA techniques for historic shipwreck human remains
Watherston, J., & McNevin, D. (2023) · Australian Journal of Forensic Sciences · doi:10.1080/00450618.2023.2181395 · Cited by 3
“The HIrisPlex sys-tem (24 SNPs) for predicting both hair and eye colour 185,186 has been applied to WWII skeletal remains 188 .”
MethodLim, L., & Majid, A. A. (2023) · Scientific Reports · doi:10.1038/s41598-023-28774-y · Cited by 3
Reliability of phenotype estimation and extended classification of ancestry using decedent samples
Weisz, N. A., Roberts, K. A., & Hardy, W. R. (2021) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-021-02631-x · Cited by 3
“Overall, the study examined here re-emphasized that predictions based upon the HIrisPlex system are not and cannot be 100% accurate given current scientific knowledge but are still the most accurate DNA tool available for human phenotype prediction of eye and hair color in parallel [16].”
BackgroundMethodInfluentialVai, S., Diroma, M. A., Cannariato, C., Budnik, A., Lari, M., Caramelli, D., & Pilli, E. (2021) · Genes · doi:10.3390/genes12060910 · Cited by 6
“approach is used in combination with a stepwise model as described in [43].”
MethodPresentation of the Human Pigmentation (HuPi) AmpliSeq™ custom panel
Meyer, O., Andersen, J. D., & Børsting, C. (2019) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2019.10.058 · Cited by 3
Testing Human Skin and Respiratory Sensitizers—What Is Good Enough?
Malmborg, A., & Borrebaeck, C. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18020241 · Cited by 3
“Recent technological advancements have allowed us to interpret this massive amount of information harbored in the genome, and has opened up several intriguing applications, such as face recognition and novel vaccine developments [3].”
BackgroundPrediction in forensic science: a critical examination of common understandings
Biedermann, A., Bozza, S., & Taroni, F. (2015) · Frontiers in Psychology · doi:10.3389/fpsyg.2015.00737 · Cited by 3
“As a result, no potential donor for a crime stain can be provided (e.g., Kayser and Schneider, 2009; Walsh et al., 2014), but leads regarding EVC.”
BackgroundPeltola, S., Nordfors, U., Arppe, L., Oinonen, M., Sarkkinen, M., Voutilainen, M., Majander, K., Lamnidis, T. C., Traverso, L., Krause, J., et al. (2026) · BMC Genomics · doi:10.1186/s12864-026-12962-x · Cited by 1
“HIrisPlex analysis [31] indicated that the individual likely had fair skin, blue eyes and dark hair.”
Evaluation of the Prediction Potential of the HIrisPlex-S System in a North German Population
Caliebe, A., Bruder, L., Riege, J., & Seidel, M. (2026) · Genes · doi:10.3390/genes17040452 · Cited by 2
“The genotyping of the 41 autosomal SNPs for the determination of eye, hair and skin color is based on the publications of Walsh et al. [6,10] for the 24-plex assay and Chaitanya et al. [5] for the 17-plex assay.”
InfluentialAbbatangelo, C. L., Lona‐Durazo, F., Edwards, M., & Parra, E. J. (2026) · Scientific Reports · doi:10.1038/s41598-026-44580-8 · Cited by 3
“There are no TYRP1 variants currently included in eye colour prediction tools specifically, although rs683 appears for the prediction of both hair and eye colour 15,64,65 .”
InfluentialMaróti, Z., Nyerki, E., Neparáczki, E., Tőrők, T., Varga, G. I. B., & Kalmár, T. (2026) · Scientific Reports · doi:10.1038/s41598-026-38372-3 · Cited by 3
“The most comprehensive and forensically validated HIrisPlex-S system currently uses 41 autosomal markers to predict eye, hair, and skin colour 8–10 .”
InfluentialAbbatangelo, C., Durazo, F. L., Edwards, M., & Parra, E. J. (2025) · bioRxiv · doi:10.1101/2025.07.20.665796 · Cited by 2
“There are no TYRP1 variants currently included in eye colour prediction tools specifically, although rs683 appears for the prediction of both hair and eye colour (57–59).”
Kotchey, L. L., Lee, S., Nangeroni, L., Thomas, J. T., Staadig, A., Tillmar, A., Sturk-Andreaggi, K., Marshall, C., & Ghemrawi, M. (2025) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2025.103294 · Cited by 2
Adserias‐Garriga, J., Medina-Paz, F., Molina, J. A., & Zapico, S. C. (2025) · Genes · doi:10.3390/genes16050511 · Cited by 2
“These phenotyping predictions have been included in the facial approximation based on the pictures displayed in previous publications [26,36].”
Ellegaard, M. R., Ebenesersdóttir, S. S., Moore, K. H. S., Petersen, A., Vågene, Å. J., Bieker, V. C., Denham, S. D., Cavalleri, G. L., Gilbert, E. H., Werge, T. M., et al. (2024) · iScience · doi:10.1016/j.isci.2024.111076
Zeng, Z., Dikeledi, I., & Lv, Y. (2023) · Forensic Sciences Research · doi:10.1093/fsr/owad041 · Cited by 2
“These topics include the exploration of identification techniques, such as the development of single nucleotide polymorphism (SNP) systems for forensic identification [39] and the development of the HIrisPlex system [40].”
BackgroundGenetic landscape of forensic DNA phenotyping markers among Mediterranean populations
Becher, D., Jmel, H., Kheriji, N., Sarno, S., & Kéfi, R. (2023) · Forensic Science International · doi:10.1016/j.forsciint.2023.111906 · Cited by 3
Eye and hair color prediction of human DNA recovered from Lucilia sericata larvae
Deymenci, E., Ilksen Sarı, O., Filoglu, G., Polat, E., & Bulbul, O. (2023) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-023-03112-z · Cited by 2
“This variant has a low impact on red hair color prediction, and therefore, it does not directly affect prediction success [27].”
InfluentialForensic DNA phenotyping: A promising tool to predict human appearance for forensic purposes
Kushwaha, P., Ahmed, U., & Rana, M. (2023) · GSC Biological and Pharmaceutical Sciences · doi:10.5281/zenodo.8041301 · Cited by 2
Deep roots of admixture-related cognitive differences in the USAPreprint
Fuerst, J. G. R., & Hu, M. (2023) · Qeios · doi:10.32388/ccn648 · Cited by 3
“This application has been validated on thousands of people from various parts of the world (Chaitanya et al., 2018; Walsh et al., 2017; Walsh et al., 2014).”
BackgroundA multiple predictive tool approach for phenotypic and biogeographical ancestry inferences
Frégeau, C. J. (2021) · Canadian Society of Forensic Science Journal · doi:10.1080/00085030.2021.2016206 · Cited by 3
“3 ─ phenotypic predictions Eye and hair color estimations are obtained from the HIrisPlex model, a multinomial logistic regression model [23,31,32], using the reference database described in Walsh et al. [23,24].”
BackgroundMethodResultInfluentialSerrano, A. C. (2020) · Revista Española de Medicina Legal · doi:10.1016/j.reml.2020.01.003 · Cited by 1
Fenotipagem forense pelo DNA através de SNPs
Virmond, M., Robert, A. W., Brito, P. B., & Massuda, T. Y. C. (2016) · Revista Brasileira de Criminalística · doi:10.15260/rbc.v5i2.128 · Cited by 3
“ferramenta nas práticas forenses foram realizados testes em amostras de casos simulados, de sangue, sêmen e saliva (algumas com quantidade ínfima de DNA) e em 88% dos casos foram produzidos perfis completos de DNA [34].”
BackgroundDNA Phenotyping: The Technique of the Future
Vajpayee, K., & Shukla, R. K. (2021) · Springer eBooks · doi:10.1007/978-981-15-9364-2_54-1 · Cited by 2
Application of DNA Fingerprinting: DNA and Human Trafficking
Álvarez-Cubero, M., Saiz, M., Martínez-González, L. J., Alvarez, J., & Lorente, J. (2018) · doi:10.1007/978-981-13-1583-1_10 · Cited by 2
Pajnič, I. Z., & Leskovar, T. (2026) · Genes · doi:10.3390/genes17030258 · Cited by 2
“Phenotype prediction employs multinomial logistic regression (MLR) on trait-informative SNPs to forecast hair colors (brown, blond, red, black) and eye colors (brown, blue, intermediate) [65].”
Gosch, A., Anslinger, K., & Naue, J. (2026) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-025-03709-6 · Cited by 1
The present state of forensic identification of animals - a review
Rogalska-Niżnik, N. (2025) · Animal Science Papers and Reports · doi:10.2478/aspr-2025-0002 · Cited by 1
Obal, M., Zupanc, T., & Pajnič, I. Z. (2024) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-024-03368-z · Cited by 1
“Alongside predicting some observable traits, such as eye, skin, and hair color [4, 5], and age [6], biogeographical ancestry may be assessed [ 7 , 8].”
Likelihood Ratios for physical traits in forensic investigations
Marsico, F. L., & Egeland, T. (2024) · bioRxiv · doi:10.1101/2024.05.25.595720 · Cited by 1
“For practicality, the values are selected on the basis of the HIrisPlex classification system [4, 5, 29].”
BackgroundMethodMaróti, Z., Nyerki, E., Neparáczki, E., Török, T., Varga, G., & Kalmár, T. (2023) · bioRxiv · doi:10.1101/2023.11.02.565295 · Cited by 1
“The most comprehensive and forensically validated HIrisPlex-S system currently uses 41 autosomal markers to simultaneously predict eye, hair, and skin colour [4–6].”
Recent developments in forensic DNA typing
Simayijiang, H., & Yan, J.-W. (2023) · Journal of Forensic Science and Medicine · doi:10.4103/jfsm.jfsm_127_23 · Cited by 1
DNA Phenotyping of Remains from Elite Burials of the Khazar Period of Southern Russia
Fesenko, D., Aramova, O., Vdovchenkov, E., Ivanovsky, I., Fesenko, O. E., Polyakov, S. A., Faleeva, T., Filippova, M., Florinskaya, V. S., & Kornienko, I. (2023) · Molecular Biology · doi:10.1134/s0026893323040040 · Cited by 1
EVALUATION OF PYROMARK Q48 AUTOPREP WITH HIRISPLEX-S IN AN ITALIAN POPULATION SAMPLE
Gentile, F., Cherubini, A., Colloca, D., Passero, A., Pirocchi, V., Casamassima, G., & Marino, A. (2022) · Forensic Science International: Genetics Supplement Series · doi:10.1016/j.fsigss.2022.10.072 · Cited by 1
Application of SNP-Based DNA Phenotyping to Archaeological and Forensic Cases
Lee, H. (2020) · The Handbook of Mummy Studies · doi:10.1007/978-981-15-1614-6_50-1 · Cited by 1
Prediction of Eye, Hair and Skin Color in Admixed Populations of Latin AmericaPreprint
Palmal, S., Adhikari, K., Mendoza-Revilla, J., Fuentes-Guajardo, M., de Cerqueira, C. S. D., Chacón-Duque, J., Sohail, A., Hurtado, M., Villegas, V., Granja, V., et al. (2020) · bioRxiv · doi:10.1101/2020.12.09.415901 · Cited by 1
Ghaiyed, A. P., Chaseling, J., Lea, R. A., Bernie, A. M., Haupt, L. M., Griffiths, L. R., & Wright, K. M. (2020) · Australian Journal of Forensic Sciences · doi:10.1080/00450618.2020.1853233 · Cited by 2
“Walsh et al.28 found that blue eyes and light hair were absent in a sample of 28 Japanese individuals.”
MethodInfluentialA study of old Serbian skeletal remains using ForenSeq DNA Signature™ kit
Almohammed, E. K., Zgonjanin, D. M., Alsaadi, S., & Hadi, S. S. (2019) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2019.11.010 · Cited by 1
Computational methods for ancient genome reconstruction
Peltzer, A. (2018) · doi:10.15496/publikation-23492 · Cited by 1
“This analysis was performed by investigating important genetic loci on George Bähr’s genome manually using IGV [186] and entering the obtained SNP information into hIRISPlex [231] to predict George Bähr’s phenotype.”
BackgroundMethodStubbs, W. K. (2017) · doi:10.7912/c2m07p · Cited by 1
“Current phenotyping research is also being done on skin and eye pigmentation [3, 4].”
BackgroundEye Color Frequency and IrisPlex Validation in Pakhtun Population Living in Shangla Valley, Pakistan
Rahat, M. A. (2022) · Pakistan Journal of Zoology · doi:10.17582/journal.pjz/20190602080610 · Cited by 1
“…color phenotypes from SNP genotypes is now achievable with practically useful accuracies, for instance by applying the IrisPlex and HIrisPlex DNA test systems that have been forensically validated (Walsh et al., 2014), as well as tested and applied (Kastelic et al., 2013; Chaitanya et al., 2014).”
MethodResultElucidating the mechanisms or interactions involved in differing hair color follicles
Muralidharan, C. (2016) · doi:10.7912/c28668 · Cited by 1
The Advantages of Noncriminal Genetic Databases in Identifying Missing Persons and Human Remains
Saiz, M., Álvarez-Cubero, M., Alvarez, J., & Lorente, J. (2016) · Springer eBooks · doi:10.1007/978-3-319-40199-7_24 · Cited by 1
Sirago, G., Sabato, S., Solarino, B., Dell'Erba, A., & Ferorelli, D. (2026) · Forensic Science, Medicine, and Pathology · doi:10.1007/s12024-026-01372-w
Beentjes, I., de Bruin, D. D. S. H., Haagmans, M. A., van der Gaag, K. J., Rice, G., Kayser, M., Ralf, A., Sijen, T., & Henneman, P. (2026) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2026.103635
Self-citationŞenışık, M., Ersoy, G., Ozkara, H., Ercan, Ö., & Filoglu, G. (2026) · Genes · doi:10.3390/genes17101200
Cavitation and Temporary Cavity: Semantic Ambiguity of Wrong Analogies in Wound Ballistics
Kokin, A. V. (2026) · Theory and Practice of Forensic Science · doi:10.30764/1819-2785-2026-1-48-59
Prediction of Facial Phenotypic Traits by DNA: Status of Research
Skhalyakho, R. A., & Zaporozhchenko, V. (2026) · Theory and Practice of Forensic Science · doi:10.30764/4/1819-2785-2026-1-39-47
Sun, C., Yu, Y., Zhang, B., Sheng, P., Wu, Y., Wen, H., Yu, C., Wei, P., & Wen, S. (2026) · Archaeological and Anthropological Sciences · doi:10.1007/s12520-026-02545-y
Becerra‐Loaiza, D. S., González-Ortiz, N., Sat-Muñoz, D., Balderas-Peña, L.-M.-A., & Aguilar‐Velázquez, J. A. (2026) · Journal of Genome Biotechnology and Genetics · doi:10.3390/jgbg1020014
Zhur, K. V., Leonova, M. V., Сергеевич, Ш. Ф., Pankratova, E. V., Сиренов, А. В., Коробов, Д. С., Dobrovol’skaya, M. V., Makarov, N. A., & Prokhortchouk, E. B. (2026) · Acta Naturae · doi:10.32607/actanaturae.27916
“Phenotypic traits were inferred using the HIrisPlex-S online tool [22, 23].”
Metadata
- Authors
- Walsh, S., Chaitanya, L., Clarisse, L., Wirken, L., Draus-Barini, J., Kovatsi, L., Maeda, H., Ishikawa, T., Sijen, T., de Knijff, P., Branicki, W., Liu, F., & Kayser, M.
- Affiliations
- Erasmus MC (NL)
- Netherlands Forensic Institute (NL)
- Leiden University Medical Center (NL)
- Aristotle University of Thessaloniki (GR)
- Osaka City University (JP)
- Jagiellonian University (PL)
- Corresponding author
- Kayser, Manfred
- ORCID
- Venue
- Forensic Science International: Genetics
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 9
- Pages
- 150-161
- ISSN
- 1872-4973 (ISSN-L)
- OpenAlex
- W2014796310
- Cited by
- 240
- References
- 44
- Citations by year
- 2026: 24 · 2025: 23 · 2024: 19 · 2023: 31 · 2022: 22 · 2021: 23 · 2020: 18 · 2019: 23 · 2018: 19 · 2017: 19 · 2016: 10 · 2015: 7 · 2014: 2
- FWCI
- 8.31
- Type
- journal article
- Language
- en
- Open access
- green
- ruj.uj.edu.pl
- Licence
- cc-by-nc-nd
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- Locations
- Forensic Science International Genetics (publishedVersion)
- PubMed (publishedVersion)
- Jagiellonian University Repository (Jagiellonian University) (submittedVersion, cc-by-nc-nd)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Funders
- Netherlands Forensic Institute (NFI)
- Erasmus MC University Medical Center Rotterdam
- Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO)
- European Union Seventh Framework Programme (285487)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Agricultural and Biological Sciences › Insect Science › Forensic Entomology and Diptera Studies
- Keywords
- forensic DNA phenotyping, trace DNA, degraded DNA, ancient DNA, human remains, missing persons, genotype-phenotype database, forensic anthropology
- MeSH terms
- Alleles, Blood Chemical Analysis, DNA, Eye Color, Genotype, Hair, Hair Color, Heterozygote, Humans, Saliva, Semen, Polymorphism, Single Nucleotide, Forensic Genetics
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