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dc.contributor.authorSalvo, Nina Mjølsnes
dc.contributor.authorJanssen, Kirstin
dc.contributor.authorKirsebom, Maria Kristine
dc.contributor.authorMeyer, Olivia Strunge
dc.contributor.authorBerg, Thomas
dc.contributor.authorOlsen, Gunn-Hege
dc.date.accessioned2022-08-26T09:04:14Z
dc.date.available2022-08-26T09:04:14Z
dc.date.issued2021-10-24
dc.description.abstractPrediction of eye and hair colour from DNA can be an important investigative tool in forensic cases if conventional DNA profiling fails to match DNA from any known suspects or cannot obtain a hit in a DNA database. The HIrisPlex model for simultaneous eye and hair colour predictions was developed for forensic usage. To genotype a DNA sample, massively parallel sequencing (MPS) has brought new possibilities to the analysis of forensic DNA samples. As part of an in-house validation, this study presents the genotyping and predictive performance of the HIrisPlex SNPs in a Norwegian study population, using Verogen’s ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx system and the HIrisPlex webtool. DNA-profiles were successfully typed with DNA input down to 125 pg. In samples with DNA input < 125 pg, false homozygotes were observed with as many as 92 reads. Prediction accuracies in terms of AUC were high for red (0.97) and black (0.93) hair colours, as well as blue (0.85) and brown (0.94) eye colours. The AUCs for blond (0.72) and brown (0.70) hair colour were considerably lower. None of the individuals was predicted to have intermediate eye colour. Therefore, the error rates of the overall eye colour predictions were 37% with no predictive probability threshold (pmax) and 26% with a probability threshold of 0.7. We also observed that more than half of the incorrect predictions were for individuals carrying the rs12913832 GG genotype. For hair colour, 65% of the individuals were correctly predicted when using the highest probability category approach. The main error was observed for individuals with brown hair colour that were predicted to have blond hair. Utilising the prediction guide approach increased the correct predictions to 75%. Assessment of phenotype-genotype associations of eye colours using a quantitative eye colour score (PIEscore), revealed that rs12913832 AA individuals of Norwegian descent had statistically significantly higher PIEscore (less brown eye colour) than individuals of non-northern European descent. To our knowledge, this has not been reported in other studies. Our study suggests that careful assessment of the target population prior to the implementation of forensic DNA phenotyping to case work is beneficial.en_US
dc.identifier.citationSalvo, Janssen, Kirsebom, Meyer, Berg, Olsen. Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit. Forensic Science International: Genetics. 2022en_US
dc.identifier.cristinIDFRIDAID 1951137
dc.identifier.doi10.1016/j.fsigen.2021.102620
dc.identifier.issn1872-4973
dc.identifier.issn1878-0326
dc.identifier.urihttps://hdl.handle.net/10037/26434
dc.language.isoengen_US
dc.publisherElsevieren_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.journalForensic Science International: Genetics
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2021 The Author(s)en_US
dc.titlePredicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kiten_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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