IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information

Department of Forensic Molecular Biology, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Forensic Science International: Genetics (Impact Factor: 4.6). 03/2010; 5(3):170-80. DOI: 10.1016/j.fsigen.2010.02.004
Source: PubMed


A new era of 'DNA intelligence' is arriving in forensic biology, due to the impending ability to predict externally visible characteristics (EVCs) from biological material such as those found at crime scenes. EVC prediction from forensic samples, or from body parts, is expected to help concentrate police investigations towards finding unknown individuals, at times when conventional DNA profiling fails to provide informative leads. Here we present a robust and sensitive tool, termed IrisPlex, for the accurate prediction of blue and brown eye colour from DNA in future forensic applications. We used the six currently most eye colour-informative single nucleotide polymorphisms (SNPs) that previously revealed prevalence-adjusted prediction accuracies of over 90% for blue and brown eye colour in 6168 Dutch Europeans. The single multiplex assay, based on SNaPshot chemistry and capillary electrophoresis, both widely used in forensic laboratories, displays high levels of genotyping sensitivity with complete profiles generated from as little as 31pg of DNA, approximately six human diploid cell equivalents. We also present a prediction model to correctly classify an individual's eye colour, via probability estimation solely based on DNA data, and illustrate the accuracy of the developed prediction test on 40 individuals from various geographic origins. Moreover, we obtained insights into the worldwide allele distribution of these six SNPs using the HGDP-CEPH samples of 51 populations. Eye colour prediction analyses from HGDP-CEPH samples provide evidence that the test and model presented here perform reliably without prior ancestry information, although future worldwide genotype and phenotype data shall confirm this notion. As our IrisPlex eye colour prediction test is capable of immediate implementation in forensic casework, it represents one of the first steps forward in the creation of a fully individualised EVC prediction system for future use in forensic DNA intelligence.

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    • "For instance, researchers attempt to identify the type of tissue directly from the nucleic acids in the sample [3] [4] [5] [6] or try to determine at what time of the day a trace has been left at the crime scene [7]. But probably the most radical upcoming change in the field is the use of DNA traces not only as piece of evidence but also as investigative tool to phenotypically describe a possible perpetrator [8] [9] [10] or to infer his or her biogeographical ancestry [11]. The technical advances here have been greatly boosted in recent years by the expansion of powerful sequencing techniques. "
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    ABSTRACT: During the last decade, DNA profiling and the use of DNA databases have become two of the most employed instruments of police investigations. This very rapid establishment of forensic genetics is yet far from being complete. In the last few years novel types of analyses have been presented to describe phenotypically a possible perpetrator. We conducted the present study among German speaking Swiss residents for two main reasons: firstly, we aimed at getting an impression of the public awareness and acceptance of the Swiss DNA database and the perception of a hypothetical DNA database containing all Swiss residents. Secondly, we wanted to get a broader picture of how people that are not working in the field of forensic genetics think about legal permission to establish phenotypic descriptions of alleged criminals by genetic means.
    Forensic Science International: Genetics 05/2015; 17:163-172. DOI:10.1016/j.fsigen.2015.05.010 · 4.60 Impact Factor
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    • "); Snipper15 (those SNPs present in the HGDP-CEPH online data) and Snipper23* (all 23 SNPs studied by Ruiz).Erasmus6 (the 6 Irisplex SNPs analyzed with the Erasmus Irisplex Webtool) was additionally tested. It should be noted that the Erasmus Irisplex Webtool is based on a larger reference dataset [8] than the Excel calculator included in the original Irisplex publication [1] and gives improved MLR probabilities for a majority of SNP profiles. Supplementary Fig. S1 "
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    ABSTRACT: New DNA-based predictive tests for physical characteristics and inference of ancestry are highly informative tools that are being increasingly used in forensic genetic analysis. Two eye colour prediction models: a Bayesian classifier–Snipper and a multinomial logistic regression (MLR) system for theIrisplex assay, have been described for the analysis ofunadmixed European populations. Since multiple SNPs in combination contribute in varying degrees to eye colour predictability in Europeans, it is likely that these predictive tests will perform in different ways amongst admixed populations that have European co-ancestry, compared to unadmixed Europeans. In this study we examined 99 individuals from two admixed South American populations comparingeye colour versus ancestry in order to reveal a direct correlation of light eye colour phenotypes with European co-ancestry in admixed individuals. Additionally, eye colour prediction following six prediction models,using varying numbers of SNPs and based on Snipper and MLR,were applied to the study populations.Furthermore, patterns of eye colour prediction have been inferredfor a set of publicly available admixed and globally distributed populationsfrom the HGDP-CEPH panel and 1000 Genomes databases with a special emphasis on admixed American populations similar to those of the study samples.
    Forensic Science International: Genetics 11/2014; 13:3-9. DOI:10.1016/j.fsigen.2014.06.007 · 4.60 Impact Factor
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    • "For example, in the 2004 Madrid train bombings, source population of the suspects was inferred by using 34 autosomal SNPs related to the ancestry of population [49]. Other studies reported SNPs closely related to colors of the iris [50] and hair [51] with an accuracy of 90%. Klimentidis et al. [52] investigated facial features using DNA test and association analysis and validated their results using facial reconstruction (molecular photo fitting). "
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    ABSTRACT: Next-generation sequencing (NGS) technology, with its high-throughput capacity and low cost, has developed rapidly in recent years and become an important analytical tool for many genomics researchers. New opportunities in the research domain of the forensic studies emerge by harnessing the power of NGS technology, which can be applied to simultaneously analyzing multiple loci of forensic interest in different genetic contexts, such as autosomes, mitochondrial and sex chromosomes. Furthermore, NGS technology can also have potential applications in many other aspects of research. These include DNA database construction, ancestry and phenotypic inferences, monozygotic twin studies, body fluid and species identification, and forensic animal, plant and microbiological analyses. Here we review the application of NGS technology in the field of forensic science with the aim of providing a reference for future forensics studies and practice.
    Genomics Proteomics & Bioinformatics 10/2014; 12(5). DOI:10.1016/j.gpb.2014.09.001
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