Chaitanya, Lakshmi ORCID: 0000-0002-6736-5739, Walsh, Susan, Andersen, Jeppe Dyrberg, Ansell, Ricky, Ballantyne, Kaye, Ballard, David, Banemann, Regine, Bauer, Christiane Maria, Bento, Ana Margarida, Brisighelli, Francesca ORCID: 0000-0001-5469-4413, Capal, Tomas, Clarisse, Lindy, Gross, Theresa E., Haas, Cordula ORCID: 0000-0001-8122-1427, Hoff-Olsen, Per, Hollard, Clemence, Keyser, Christine, Kiesler, Kevin M., Kohler, Priscila, Kupiec, Tomasz ORCID: 0000-0001-8510-5028, Linacre, Adrian ORCID: 0000-0001-5890-5548, Minawi, Anglika, Morling, Niels ORCID: 0000-0002-9463-5087, Nilsson, Helena, Noren, Lina, Ottens, Renee, Palo, Jukka U., Parson, Walther ORCID: 0000-0002-5692-2392, Pascali, Vincenzo L., Phillips, Chris, Porto, Maria Joao, Sajantila, Antti ORCID: 0000-0003-4117-5248, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Sijen, Titia, Sochtig, Jens, Syndercombe-Court, Denise, Tillmar, Andreas, Turanska, Martina, Vallone, Peter M., Zatkalikova, Livia, Zidkova, Anastassiya, Branicki, Wojciech ORCID: 0000-0002-7412-5733 and Kayser, Manfred (2014). Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. Forensic Sci. Int.-Genet., 11. S. 241 - 252. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

The IrisPlex system is a DNA-based test system for the prediction of human eye colour from biological samples and consists of a single forensically validated multiplex genotyping assay together with a statistical prediction model that is based on genotypes and phenotypes from thousands of individuals. IrisPlex predicts blue and brown human eye colour with, on average, > 94% precision accuracy using six of the currently most eye colour informative single nucleotide polymorphisms (HERC2 rs12913832, OCA2 rs1800407, SLC24A4 rs12896399, SLC45A2 (MATP) rs16891982, TYR rs1393350, and IRF4 rs12203592) according to a previous study, while the accuracy in predicting non-blue and non-brown eye colours is considerably lower. In an effort to vigorously assess the IrisPlex system at the international level, testing was performed by 21 laboratories in the context of a collaborative exercise divided into three tasks and organised by the European DNA Profiling (EDNAP) Group of the International Society of Forensic Genetics (ISFG). Task 1 involved the assessment of 10 blood and saliva samples provided on FTA cards by the organising laboratory together with eye colour phenotypes; 99.4% of the genotypes were correctly reported and 99% of the eye colour phenotypes were correctly predicted. Task 2 involved the assessment of 5 DNA samples extracted by the host laboratory from simulated casework samples, artificially degraded, and provided to the participants in varying DNA concentrations. For this task, 98.7% of the genotypes were correctly determined and 96.2% of eye colour phenotypes were correctly inferred. For Tasks 1 and 2 together, 99.2% (1875) of the 1890 genotypes were correctly generated and of the 15 (0.8%) incorrect genotype calls, only 2 (0.1%) resulted in incorrect eye colour phenotypes. The voluntary Task 3 involved participants choosing their own test subjects for IrisPlex genotyping and eye colour phenotype inference, while eye photographs were provided to the organising laboratory and judged; 96% of the eye colour phenotypes were inferred correctly across 100 samples and 19 laboratories. The high success rates in genotyping and eye colour phenotyping clearly demonstrate the reproducibility and the robustness of the IrisPlex assay as well as the accuracy of the IrisPlex model to predict blue and brown eye colour from DNA. Additionally, this study demonstrates the ease with which the IrisPlex system is implementable and applicable across forensic laboratories around the world with varying pre-existing experiences. (c) 2014 Elsevier Ireland Ltd. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Chaitanya, LakshmiUNSPECIFIEDorcid.org/0000-0002-6736-5739UNSPECIFIED
Walsh, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andersen, Jeppe DyrbergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ansell, RickyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ballantyne, KayeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ballard, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Banemann, RegineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bauer, Christiane MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bento, Ana MargaridaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brisighelli, FrancescaUNSPECIFIEDorcid.org/0000-0001-5469-4413UNSPECIFIED
Capal, TomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clarisse, LindyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross, Theresa E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haas, CordulaUNSPECIFIEDorcid.org/0000-0001-8122-1427UNSPECIFIED
Hoff-Olsen, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollard, ClemenceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keyser, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiesler, Kevin M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kohler, PriscilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kupiec, TomaszUNSPECIFIEDorcid.org/0000-0001-8510-5028UNSPECIFIED
Linacre, AdrianUNSPECIFIEDorcid.org/0000-0001-5890-5548UNSPECIFIED
Minawi, AnglikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morling, NielsUNSPECIFIEDorcid.org/0000-0002-9463-5087UNSPECIFIED
Nilsson, HelenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noren, LinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ottens, ReneeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palo, Jukka U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parson, WaltherUNSPECIFIEDorcid.org/0000-0002-5692-2392UNSPECIFIED
Pascali, Vincenzo L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Phillips, ChrisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Porto, Maria JoaoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sajantila, AnttiUNSPECIFIEDorcid.org/0000-0003-4117-5248UNSPECIFIED
Schneider, Peter M.UNSPECIFIEDorcid.org/0000-0003-0744-2349UNSPECIFIED
Sijen, TitiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sochtig, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Syndercombe-Court, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tillmar, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Turanska, MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vallone, Peter M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zatkalikova, LiviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zidkova, AnastassiyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Branicki, WojciechUNSPECIFIEDorcid.org/0000-0002-7412-5733UNSPECIFIED
Kayser, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-435528
DOI: 10.1016/j.fsigen.2014.04.006
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 11
Page Range: S. 241 - 252
Date: 2014
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Genetics & Heredity; Medicine, LegalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/43552

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