RT Journal Article
T1 Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA
A1 Xavier, Catarina
A1 Puente Vila, María del Carmen de la
A1 Mosquera Miguel, Ana
A1 Freire Aradas, Ana María
A1 Kalamara, Vivian
A1 Vidaki, Athina
A1 Gross, Theresa E.
A1 Revoir, Andrew
A1 Pośpiech, Ewelina
A1 Kartasińska, Ewa
A1 Spólnicka, Magdalena
A1 Branicki, Wojciech
A1 Ames, Carole E.
A1 Schneider, Peter M.
A1 Hohoff, Carsten
A1 Kayser, Manfred
A1 Phillips, Christopher Paul
A1 Parson, Walther
A1 The VISAGE Consortium, 
K1 Forensic DNA phenotyping
K1 Appearance and bio-geographical ancestry prediction
K1 MPS Ion S5
K1 AmpliSeq
K1 SNP multiplex
AB Forensic DNA phenotyping is gaining interest as the number of applications increases within the forensic genetics community. The possibility of providing investigative leads in addition to conventional DNA profiling for human identification provides new insights into otherwise “cold” police investigations. The ability of reporting on the bio-geographical ancestry (BGA), appearance characteristics and age based on DNA obtained from a crime scene sample of an unknown donor makes the exploration of such markers and the development of new methods meaningful for criminal investigations. The VISible Attributes through GEnomics (VISAGE) Consortium aims to disseminate and broaden the use of predictive markers and develop fully optimized and validated prototypes for forensic casework implementation. Here, the first VISAGE appearance and ancestry tool development, performance and validation is reported. A total of 153 SNPs (96.84 % assay conversion rate) were successfully incorporated into a single multiplex reaction using the AmpliSeq™ design pipeline, and applied for massively parallel sequencing with the Ion S5 platform. A collaborative effort involving six VISAGE laboratory partners was devised to perform all validation tests. An extensive validation plan was carefully organized to explore the assay’s overall performance with optimum and low-input samples, as well as with challenging and casework mock samples. In addition, forensic validation studies such as concordance and mixture tests recurring to the Coriell sample set with known genotypes were performed. Finally, inhibitor tolerance and specificity were also evaluated. Results showed a robust, highly sensitive assay with good overall concordance between laboratories
PB Elsevier
SN 1872-4973
YR 2020
FD 2020
LK http://hdl.handle.net/10347/24243
UL http://hdl.handle.net/10347/24243
LA eng
NO Forensic Science International: Genetics, Volume 48, September 2020, 102336
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. MdlP is supported by a postdoctoral fellowship awarded by the Consellería de Cultura, Educación e Ordenación Universitaria and the Consellería de Economía, Emprego e Industria from Xunta de Galicia (Modalidade A, ED481B 2017/088). AFA is supported by a post-doctorate grant funded by the Consellería de Cultura, Educación e Ordenación Universitaria e da Consellería de Economía, Emprego e Industria from Xunta de Galicia, Spain (Modalidade B, ED481B 2018/010). 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 24 abr 2026