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dc.contributor.authorMeyer, Olivia Strunge
dc.contributor.authorSalvo, Nina Mjølsnes
dc.contributor.authorKjærbye, Anne
dc.contributor.authorKjersem, Marianne
dc.contributor.authorAndersen, Mikkel Meyer
dc.contributor.authorSørensen, Erik
dc.contributor.authorUllum, Henrik
dc.contributor.authorJanssen, Kirstin
dc.contributor.authorMorling, Niels
dc.contributor.authorBørsting, Claus
dc.contributor.authorOlsen, Gunn-Hege
dc.contributor.authorAndersen, Jeppe Dyrberg
dc.date.accessioned2021-11-22T09:51:23Z
dc.date.available2021-11-22T09:51:23Z
dc.date.issued2021-05-27
dc.description.abstractDescription of a perpetrator’s eye colour can be an important investigative lead in a forensic case with no apparent suspects. Herein, we present 11 SNPs (Eye Colour 11-EC11) that are important for eye colour prediction and eye colour prediction models for a two-category reporting system (blue and brown) and a three-category system (blue, intermediate, and brown). The EC11 SNPs were carefully selected from 44 pigmentary variants in seven genes previously found to be associated with eye colours in 757 Europeans (Danes, Swedes, and Italians). Mathematical models using three different reporting systems: a quantitative system (PIE-score), a two-category system (blue and brown), and a three-category system (blue, intermediate, brown) were used to rank the variants. SNPs with a sufficient mean variable importance (above 0.3%) were selected for EC11. Eye colour prediction models using the EC11 SNPs were developed using leave-one-out cross-validation (LOOCV) in an independent data set of 523 Norwegian individuals. Performance of the EC11 models for the two- and three-category system was compared with models based on the IrisPlex SNPs and the most important eye colour locus, rs12913832. We also compared model performances with the IrisPlex online tool (IrisPlex Web). The EC11 eye colour prediction models performed slightly better than the IrisPlex and rs12913832 models in all reporting systems and better than the IrisPlex Web in the three-category system. Three important points to consider prior to the implementation of eye colour prediction in a forensic genetic setting are discussed: (1) the reference population, (2) the SNP set, and (3) the reporting strategy.en_US
dc.identifier.citationMeyer, Salvo, Kjærbye, Kjersem, Andersen, Sørensen, Ullum, Janssen, Morling, Børsting, Olsen, Andersen. Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. Genes. 2021en_US
dc.identifier.cristinIDFRIDAID 1951133
dc.identifier.doi10.3390/genes12060821
dc.identifier.issn2073-4425
dc.identifier.urihttps://hdl.handle.net/10037/23107
dc.language.isoengen_US
dc.publisherMDPIen_US
dc.relation.ispartofSalvo, N.M. (2024). Forensic DNA phenotyping - Towards reliable and accurate DNA tests for prediction of eye colour, hair colour and biogeographical ancestry. (Doctoral thesis). <a href=https://hdl.handle.net/10037/33807>https://hdl.handle.net/10037/33807</a>
dc.relation.journalGenes
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2021 The Author(s)en_US
dc.subjectVDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710en_US
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710en_US
dc.titlePrediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Seten_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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