<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Xavier, Catarina</style></author><author><style face="normal" font="default" size="100%">de la Puente, María</style></author><author><style face="normal" font="default" size="100%">Mosquera-Miguel, Ana</style></author><author><style face="normal" font="default" size="100%">Freire-Aradas, Ana</style></author><author><style face="normal" font="default" size="100%">Kalamara, Vivian</style></author><author><style face="normal" font="default" size="100%">Vidaki, Athina</style></author><author><style face="normal" font="default" size="100%">E Gross, Theresa</style></author><author><style face="normal" font="default" size="100%">Revoir, Andrew</style></author><author><style face="normal" font="default" size="100%">Pośpiech, Ewelina</style></author><author><style face="normal" font="default" size="100%">Kartasińska, Ewa</style></author><author><style face="normal" font="default" size="100%">Spólnicka, Magdalena</style></author><author><style face="normal" font="default" size="100%">Branicki, Wojciech</style></author><author><style face="normal" font="default" size="100%">E Ames, Carole</style></author><author><style face="normal" font="default" size="100%">M Schneider, Peter</style></author><author><style face="normal" font="default" size="100%">Hohoff, Carsten</style></author><author><style face="normal" font="default" size="100%">Kayser, Manfred</style></author><author><style face="normal" font="default" size="100%">Phillips, Christopher</style></author><author><style face="normal" font="default" size="100%">Parson, Walther</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">VISAGE Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA.</style></title><secondary-title><style face="normal" font="default" size="100%">Forensic Sci Int Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Forensic Sci Int Genet</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">48</style></volume><pages><style face="normal" font="default" size="100%">102336</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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 &quot;cold&quot; 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.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32619960?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Palencia-Madrid, Leire</style></author><author><style face="normal" font="default" size="100%">Xavier, Catarina</style></author><author><style face="normal" font="default" size="100%">de la Puente, María</style></author><author><style face="normal" font="default" size="100%">Hohoff, Carsten</style></author><author><style face="normal" font="default" size="100%">Phillips, Christopher</style></author><author><style face="normal" font="default" size="100%">Kayser, Manfred</style></author><author><style face="normal" font="default" size="100%">Parson, Walther</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System.</style></title><secondary-title><style face="normal" font="default" size="100%">Genes (Basel)</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genes (Basel)</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">DNA Fingerprinting</style></keyword><keyword><style  face="normal" font="default" size="100%">Eye Color</style></keyword><keyword><style  face="normal" font="default" size="100%">Forensic Genetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Markers</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Hair Color</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Skin Pigmentation</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 06 26</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">11</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32604780?dopt=Abstract</style></custom1></record></records></xml>