RT Journal Article
T1 Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System
A1 Palencia Madrid, Leire
A1 Xavier, Catarina
A1 Puente Vila, María del Carmen de la
A1 Hohoff, Carsten
A1 Phillips, Christopher Paul
A1 Kayser, Manfred
A1 Parson, Walther
A1 The VISAGE Consortium, 
K1 Forensic DNA phenotyping
K1 Appearance
K1 Ancestry
K1 BGA
K1 HIrisPlex-S
K1 EVC prediction
K1 Phenotype prediction
K1 DNA phenotyping
K1 PowerSeq
K1 VISAGE
AB 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
PB MDPI
YR 2020
FD 2020
LK http://hdl.handle.net/10347/23867
UL http://hdl.handle.net/10347/23867
LA eng
NO Palencia-Madrid, L.; Xavier, C.; de la Puente, M.; Hohoff, C.; Phillips, C.; Kayser, M.; Parson, W., on behalf of the VISAGE Consortium; Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes 2020, 11, 708
NO The study received support from the European Union’s Horizon 2020 Research and Innovation Programme under grant agreement No. 740580 within the framework of the VISible Attributes through GEnomics (VISAGE) Project and Consortium. L.P.-M. is a recipient of a postdoctoral fellowship from the Doctoral Research Staff Improvement Program of the Basque Government Department of Education (POS_2018_1_0037). M.d.l.P. is funded from a grant provided by the Consellería de Cultura, Educación e Ordenación Universitaria and the Consellería de Economía, Emprego e Industria of the Xunta de Galicia (ED481B 2017/088). The 1000 Genomes high coverage sequence data were generated at the New York Genome Center with funds provided by NHGRI Grant 3UM1HG008901-03S1
DS Minerva
RD 23 abr 2026