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Developmental validation of the IrisPlex system: Determination of blue and brown iris colour for forensic intelligence

Developmental validation of the IrisPlex system: Determination of blue and brown iris colour for forensic intelligence,10.1016/j.fsigen.2010.09.008,Fo

Developmental validation of the IrisPlex system: Determination of blue and brown iris colour for forensic intelligence   (Citations: 5)
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The IrisPlex system consists of a highly sensitive multiplex genotyping assay together with a statistical prediction model, providing users with the ability to predict blue and brown human eye colour from DNA samples with over 90% precision. This ‘DNA intelligence’ system is expected to aid police investigations by providing phenotypic information on unknown individuals when conventional DNA profiling is not informative. Falling within the new area of forensic DNA phenotyping, this paper describes the developmental validation of the IrisPlex assay following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines for the application of DNA-based eye colour prediction to forensic casework. The IrisPlex assay produces complete SNP genotypes with only 31pg of DNA, approximately six human diploid cell equivalents, and is therefore more sensitive than commercial STR kits currently used in forensics. Species testing revealed human and primate specificity for a complete SNP profile. The assay is capable of producing accurate results from simulated casework samples such as blood, semen, saliva, hair, and trace DNA samples, including extremely low quantity samples. Due to its design, it can also produce full profiles with highly degraded samples often found in forensic casework. Concordance testing between three independent laboratories displayed reproducible results of consistent levels on varying types of simulated casework samples. With such high levels of sensitivity, specificity, consistency and reliability, this genotyping assay, as a core part of the IrisPlex system, operates in accordance with SWGDAM guidelines. Furthermore, as we demonstrated previously, the IrisPlex eye colour prediction system provides reliable results without the need for knowledge on the bio-geographic ancestry of the sample donor. Hence, the IrisPlex system, with its model-based prediction probability estimation of blue and brown human eye colour, represents a useful tool for immediate application in accredited forensic laboratories, to be used for forensic intelligence in tracing unknown individuals from crime scene samples.
Journal: Forensic Science International-genetics - FORENSIC SCI INT-GENET , vol. 5, no. 5, pp. 464-471, 2011
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    • ...The IrisPlex system employing these six SNPs and a prediction model based on data from thousands of Europeans was recently developed and validated for DNA prediction of human eye color in forensic applications (Walsh et al. 2010a, b). Furthermore, a recent GWAS on quantitative eye color explained about 50% of continuous eye color variation by genetic factors (Liu et al. 2010)...
    • ...The prediction accuracies achieved here for red and black hair color were in the similarly high precision range as previously obtained for blue and brown eye color, for which practical applications has already been implemented (Walsh et al. 2010a, b). Slightly lower prediction accuracies obtained here for blond and brown hair color, which were still higher than previously observed for non-blue/non-brown eye color (Liu et al. 2009), may be ...
    • ...Overall, we evidently present hair color as the third externally visible characteristic that can be reliably predicted from DNA data after iris color (Liu et al. 2009; Walsh et al. 2010a, b; Valenzuela et al. 2010; Mengel-From et al. 2010), and human age, the latter demonstrated recently using quantification of T-cell DNA rearrangement (Zubakov et al. 2010)...

    Wojciech Branickiet al. Model-based prediction of human hair color using DNA variants

    • ...22 This has led to the first predictive tests of extreme eye colours (blue or brown) in forensic sciences with relatively high accuracies...

    Ewelina Pośpiechet al. Gene–gene interactions contribute to eye colour variation in humans

    • ... The IrisPlex assay has already been forensically validate...

    Peter de Knijffet al. Improving human forensics through advances in genetics, genomics and m...

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