Predicting eye and hair colour in a Norwegian population using Verogen's ForenSeq™ DNA signature prep kit
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Predicting eye and hair colour in a Norwegian population using Verogen's ForenSeq™ DNA signature prep kit. / Salvo, Nina Mjølsnes; Janssen, Kirstin; Kirsebom, Maria Kristine; Meyer, Olivia Strunge; Berg, Thomas; Olsen, Gunn Hege.
I: Forensic Science International: Genetics, Bind 56, 102620, 2022.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Predicting eye and hair colour in a Norwegian population using Verogen's ForenSeq™ DNA signature prep kit
AU - Salvo, Nina Mjølsnes
AU - Janssen, Kirstin
AU - Kirsebom, Maria Kristine
AU - Meyer, Olivia Strunge
AU - Berg, Thomas
AU - Olsen, Gunn Hege
N1 - Funding Information: A special thanks to all participants. Thanks to Marita Olsen, Marthe Aune and Mari Zakariassen for sample collection and technical assistance. Thanks to Jeppe Dyrberg Andersen and Claus Børsting for comments on the manuscript and helpful discussions by personal communication. The project was funded by UiT – The Arctic University of Norway. Publisher Copyright: © 2021 The Authors
PY - 2022
Y1 - 2022
N2 - Prediction 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 (PIE-score), revealed that rs12913832 AA individuals of Norwegian descent had statistically significantly higher PIE-score (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.
AB - Prediction 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 (PIE-score), revealed that rs12913832 AA individuals of Norwegian descent had statistically significantly higher PIE-score (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.
KW - Forensic DNA phenotyping
KW - Genetic prediction
KW - Genotyping performance
KW - HIrisPlex
KW - Human pigmentation
KW - Massively parallel sequencing
U2 - 10.1016/j.fsigen.2021.102620
DO - 10.1016/j.fsigen.2021.102620
M3 - Journal article
C2 - 34735941
AN - SCOPUS:85118342638
VL - 56
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
SN - 1872-4973
M1 - 102620
ER -
ID: 288653676