Abstract
The study of DNA to predict externally visible characteristics (EVCs) and the biogeographical ancestry (BGA) from unknown samples is gaining relevance in forensic genetics. Technical developments in Massively Parallel Sequencing (MPS) enable the simultaneous analysis of hundreds of DNA markers, which improves successful Forensic DNA Phenotyping (FDP). The EU-funded VISAGE (VISible Attributes through GEnomics) Consortium has developed various targeted MPS-based lab tools to apply FDP in routine forensic analyses. Here, we present an evaluation of the VISAGE Basic tool for appearance and ancestry prediction based on PowerSeq chemistry (Promega) on a MiSeq FGx System (Illumina). The panel consists of 153 single nucleotide polymorphisms (SNPs) that provide information about EVCs (41 SNPs for eye, hair and skin color from HIrisPlex-S) and continental BGA (115 SNPs; three overlap with the EVCs SNP set). The assay was evaluated for sensitivity, repeatability and genotyping concordance, as well as its performance with casework-type samples. This targeted MPS assay provided complete genotypes at all 153 SNPs down to 125 pg of input DNA and 99.67% correct genotypes at 50 pg. It was robust in terms of repeatability and concordance and provided useful results with casework-type samples. The results suggest that this MPS assay is a useful tool for basic appearance and ancestry prediction in forensic genetics for users interested in applying PowerSeq chemistry and MiSeq for this purpose.
Highlights
Forensic DNA Phenotyping (FDP) involves the prediction of the physical appearance through determining externally visible characteristics (EVCs) and the biogeographic ancestry (BGA) fromGenes 2020, 11, 708; doi:10.3390/genes11060708 www.mdpi.com/journal/genesDNA [1,2,3]
Targeted Massively Parallel Sequencing (MPS) technologies enable the simultaneous amplification of hundreds of DNA markers at low DNA input levels providing sensitive tools that keep sample consumption low, which has started to be applied for forensic purposes including appearance and/or ancestry prediction from DNA, e.g., [20,21,22]
The baseline noise produced with the VISible Attributes through GEnomics (VISAGE) Basic Tool for predicting appearance and ancestry (BT A&A) (PSeq) was investigated by analyzing the non-template control (NTC) sample
Summary
Forensic DNA Phenotyping (FDP) involves the prediction of the physical appearance through determining externally visible characteristics (EVCs) and the biogeographic ancestry (BGA) fromGenes 2020, 11, 708; doi:10.3390/genes11060708 www.mdpi.com/journal/genesDNA [1,2,3]. Forensic DNA Phenotyping (FDP) involves the prediction of the physical appearance through determining externally visible characteristics (EVCs) and the biogeographic ancestry (BGA) from. Recent studies focused on fine-tuning the selection of DNA markers to predict physical appearance, e.g., [5,6,7,8,9,10,11]. Targeted Massively Parallel Sequencing (MPS) technologies enable the simultaneous amplification of hundreds of DNA markers at low DNA input levels providing sensitive tools that keep sample consumption low, which has started to be applied for forensic purposes including appearance and/or ancestry prediction from DNA, e.g., [20,21,22]. The need for combining more and more SNPs for combined appearance and ancestry prediction and the suitability of targeted
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