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Open AccessArticle

Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples

1
Department of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany
2
Human Identification Group, Thermo Fisher Scientific, 180 Oyster Point Blvd, South San Francisco, CA 94080, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(12), 1398; https://doi.org/10.3390/genes11121398
Received: 2 November 2020 / Revised: 19 November 2020 / Accepted: 22 November 2020 / Published: 25 November 2020
(This article belongs to the Section Molecular Genetics and Genomics)
As the field of forensic DNA analysis has started to transition from genetics to genomics, new methods to aid in crime scene investigations have arisen. The development of informative single nucleotide polymorphism (SNP) markers has led the forensic community to question if DNA can be a reliable “eye-witness” and whether the data it provides can shed light on unknown perpetrators. We have developed an assay called the Ion AmpliSeq™ PhenoTrivium Panel, which combines three groups of markers: 41 phenotype- and 163 ancestry-informative autosomal SNPs together with 120 lineage-specific Y-SNPs. Here, we report the results of testing the assay’s sensitivity and the predictions obtained for known reference samples. Moreover, we present the outcome of a blind study performed on real casework samples in order to understand the value and reliability of the information that would be provided to police investigators. Furthermore, we evaluated the accuracy of admixture prediction in Converge™ Software. The results show the panel to be a robust and sensitive assay which can be used to analyze casework samples. We conclude that the combination of the obtained predictions of phenotype, biogeographical ancestry, and male lineage can serve as a potential lead in challenging police investigations such as cold cases or cases with no suspect. View Full-Text
Keywords: forensic phenotyping; HIrisPlex-S; massively parallel sequencing; next-generation sequencing; ancestry; appearance; ancestry prediction; phenotype prediction forensic phenotyping; HIrisPlex-S; massively parallel sequencing; next-generation sequencing; ancestry; appearance; ancestry prediction; phenotype prediction
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MDPI and ACS Style

Diepenbroek, M.; Bayer, B.; Schwender, K.; Schiller, R.; Lim, J.; Lagacé, R.; Anslinger, K. Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples. Genes 2020, 11, 1398.

AMA Style

Diepenbroek M, Bayer B, Schwender K, Schiller R, Lim J, Lagacé R, Anslinger K. Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples. Genes. 2020; 11(12):1398.

Chicago/Turabian Style

Diepenbroek, Marta; Bayer, Birgit; Schwender, Kristina; Schiller, Roberta; Lim, Jessica; Lagacé, Robert; Anslinger, Katja. 2020. "Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples" Genes 11, no. 12: 1398.

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