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The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation
Open accessAbstract
Forensic DNA Phenotyping (FDP), i.e. the prediction of human externally visible traits from DNA, has become a fast growing subfield within forensic genetics due to the intelligence information it can provide from DNA traces. FDP outcomes can help focus police investigations in search of unknown perpetrators, who are generally unidentifiable with standard DNA profiling. Therefore, we previously developed and forensically validated the IrisPlex DNA test system for eye colour prediction and the HIrisPlex system for combined eye and hair colour prediction from DNA traces. Here we introduce and forensically validate the HIrisPlex-S DNA test system (S for skin) for the simultaneous prediction of eye, hair, and skin colour from trace DNA. This FDP system consists of two SNaPshot-based multiplex assays targeting a total of 41 SNPs via a novel multiplex assay for 17 skin colour predictive SNPs and the previous HIrisPlex assay for 24 eye and hair colour predictive SNPs, 19 of which also contribute to skin colour prediction. The HIrisPlex-S system further comprises three statistical prediction models, the previously developed IrisPlex model for eye colour prediction based on 6 SNPs, the previous HIrisPlex model for hair colour prediction based on 22 SNPs, and the recently introduced HIrisPlex-S model for skin colour prediction based on 36 SNPs. In the forensic developmental validation testing, the novel 17-plex assay performed in full agreement with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines, as previously shown for the 24-plex assay. Sensitivity testing of the 17-plex assay revealed complete SNP profiles from as little as 63 pg of input DNA, equalling the previously demonstrated sensitivity threshold of the 24-plex HIrisPlex assay. Testing of simulated forensic casework samples such as blood, semen, saliva stains, of inhibited DNA samples, of low quantity touch (trace) DNA samples, and of artificially degraded DNA samples as well as concordance testing, demonstrated the robustness, efficiency, and forensic suitability of the new 17-plex assay, as previously shown for the 24-plex assay. Finally, we provide an update to the publically available HIrisPlex website https://hirisplex.erasmusmc.nl/, now allowing the estimation of individual probabilities for 3 eye, 4 hair, and 5 skin colour categories from HIrisPlex-S input genotypes. The HIrisPlex-S DNA test represents the first forensically validated tool for skin colour prediction, and reflects the first forensically validated tool for simultaneous eye, hair and skin colour prediction from DNA.
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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 [79]
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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 [79]
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Background
Metadata
- Authors
- Chaitanya, L., Breslin, K., Zuñiga, S., Wirken, L., Pośpiech, E., Kukla-Bartoszek, M., Sijen, T., Knijff, P. D., Liu, F., Branicki, W., Kayser, M., & Walsh, S.
- Affiliations
- Erasmus MC (NL)
- Indiana University – Purdue University Indianapolis (US)
- Leiden University Medical Center (NL)
- Jagiellonian University (PL)
- Netherlands Forensic Institute (NL)
- Chinese Academy of Sciences (CN)
- Corresponding author
- Kayser, Manfred
- Walsh, Susan
- ORCID
- Venue
- Forensic Science International: Genetics
- Publisher
- Elsevier BV
- Published
- 2018-07
- Volume
- 35
- Pages
- 123-135
- ISSN
- 1872-4973 (ISSN-L)
- OpenAlex
- W2796803633
- Cited by
- 335
- References
- 58
- Citations by year
- 2026: 48 · 2025: 37 · 2024: 42 · 2023: 45 · 2022: 51 · 2021: 39 · 2020: 33 · 2019: 30 · 2018: 9
- FWCI
- 16.98
- Type
- journal article
- Language
- en
- Open access
- green
- ruj.uj.edu.pl
- Licence
- Locations
- Forensic Science International Genetics (publishedVersion)
- PubMed (publishedVersion)
- Homo Politicus (Academy of Humanities and Economics in Lodz) (submittedVersion, cc-by-nc-nd)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Purdue University Indianapolis (Indiana University) (submittedVersion)
- Funders
- Indiana University-Purdue University Indianapolis
- Fundacja na rzecz Nauki Polskiej
- National Institute of Justice (2014-DN-BX-K031)
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- trace DNA, degraded DNA, statistical forecasting models, suspect identification, genotype probabilities
- MeSH terms
- Animals, DNA, Eye Color, Hair Color, Humans, Phenotype, Skin Pigmentation, Species Specificity, Reproducibility of Results, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Forensic Genetics, Genotyping Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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