ArticleGenes2020
Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 45 citations in OpenAlex.
- Technical reliability of genotyping SNPs for forensic DNA phenotyping using SNaPshot- and MPS-based assays.International journal of legal medicine · 2026Article
- Autosomal STR Markers for Forensic Genetics: Applications, Challenges, and Future Directions.Genes · 2026Review
- Past, Present and Future Perspectives of Forensic Genetics.Biomolecules · 2025Review
- Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models.Forensic sciences research · 2025Review
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- Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019-2022.Forensic science international. Synergy · 2023Article
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- Applications of massively parallel sequencing in forensic genetics.Genetics and molecular biology · 2022Article
- Reliability of phenotype estimation and extended classification of ancestry using decedent samples.International journal of legal medicine · 2021Article
- Interpretation of DNA data within the context of UK forensic science - evaluation.Emerging topics in life sciences · 2021Article
- Developments in forensic DNA analysis.Emerging topics in life sciences · 2021Review
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- Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.Genes · 2021Article
- Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.Genes · 2021Article
- Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 5 countries.
Funding
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.
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Registered trials
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