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dc.contributor.authorRamírez, Jorge Ruiz-
dc.contributor.authorPuente, María de la-
dc.contributor.authorXavier, Catarina-
dc.contributor.authorAmbroa-Conde, Adrián-
dc.contributor.authorÁlvarez Dios, Jose-
dc.contributor.authorAradas, Ana Freire-
dc.contributor.authorMosquera Miguel, Ana-
dc.contributor.authorRalf, Arwin-
dc.contributor.authorAmory, Cristina-
dc.contributor.authorKatsara, Maria Alexandra-
dc.contributor.authorKhellaf, Tarek-
dc.contributor.authorNothnagel, Michael-
dc.contributor.authorCheung, Elaine Y. Y.-
dc.contributor.authorGross, Theresa E.-
dc.contributor.authorSchneider, Peter M.-
dc.contributor.authorUacyisrael, Jolame-
dc.contributor.authorOliveira, Silviene Fabiana de-
dc.contributor.authorGuimarães, Maria de Nazaré Klautau-
dc.contributor.authorGontijo, Carolina Carvalho-
dc.contributor.authorPośpiech, Ewelina-
dc.contributor.authorBranicki, Wojciech-
dc.contributor.authorParson, Walther-
dc.contributor.authorKayser, Manfred-
dc.contributor.authorCarracedo, Ángel-
dc.contributor.authorLareu, Maria Victoria-
dc.contributor.authorPhillips, Christopher-
dc.date.accessioned2024-06-28T11:28:07Z-
dc.date.available2024-06-28T11:28:07Z-
dc.date.issued2023-03-05-
dc.identifier.citationRAMÍREZ, et al. Jorge Ruiz. Development and evaluations of the ancestry informative markers of the VISAGE enhanced tool for appearance and ancestry. Forensic Science International: Genetics, [S. l.], v. 64, 102853, 2023. DOI: https://doi.org/10.1016/j.fsigen.2023.102853. Disponível em: https://www.sciencedirect.com/science/article/pii/S1872497323000285. Acesso em: 28 jun. 2024.pt_BR
dc.identifier.urihttp://repositorio2.unb.br/jspui/handle/10482/48464-
dc.language.isoengpt_BR
dc.publisherElsevier B. V.pt_BR
dc.rightsAcesso Abertopt_BR
dc.titleDevelopment and evaluations of the ancestry informative markers of the VISAGE enhanced tool for appearance and ancestrypt_BR
dc.typeArtigopt_BR
dc.subject.keywordAncestralidade biogeográficapt_BR
dc.subject.keywordMarcadores genéticospt_BR
dc.rights.licenseThis is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.fsigen.2023.102853pt_BR
dc.description.abstract1The VISAGE Enhanced Tool for Appearance and Ancestry (ET) has been designed to combine markers for the prediction of bio-geographical ancestry plus a range of externally visible characteristics into a single massively parallel sequencing (MPS) assay. We describe the development of the ancestry panel markers used in ET, and the enhanced analyses they provide compared to previous MPS-based forensic ancestry assays. As well as established autosomal single nucleotide polymorphisms (SNPs) that differentiate sub-Saharan African, European, East Asian, South Asian, Native American, and Oceanian populations, ET includes autosomal SNPs able to efficiently differentiate populations from Middle East regions. The ability of the ET autosomal ancestry SNPs to distinguish Middle East populations from other continentally defined population groups is such that characteristic patterns for this region can be discerned in genetic cluster analysis using STRUCTURE. Joint cluster membership estimates showing individual co-ancestry that signals North African or East African origins were detected, or cluster patterns were seen that indicate origins from central and Eastern regions of the Middle East. In addition to an augmented panel of autosomal SNPs, ET includes panels of 85 Y-SNPs, 16 X-SNPs and 21 autosomal Microhaplotypes. The Y- and X-SNPs provide a distinct method for obtaining extra detail about co-ancestry patterns identified in males with admixed backgrounds. This study used the 1000 Genomes admixed African and admixed American sample sets to fully explore these enhancements to the analysis of individual co-ancestry. Samples from urban and rural Brazil with contrasting distributions of African, European, and Native American co-ancestry were also studied to gauge the efficiency of combining Y- and X-SNP data for this purpose. The small panel of Microhaplotypes incorporated in ET were selected because they showed the highest levels of haplotype diversity amongst the seven population groups we sought to differentiate. Microhaplotype data was not formally combined with single-site SNP genotypes to analyse ancestry. However, the haplotype sequence reads obtained with ET from these loci creates an effective system for de-convoluting two-contributor mixed DNA. We made simple mixture experiments to demonstrate that when the contributors have different ancestries and the mixture ratios are imbalanced (i.e., not 1:1 mixtures) the ET Microhaplotype panel is an informative system to infer ancestry when this differs between the contributors.pt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationMedical University of Innsbruck, Institute of Legal Medicinept_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Faculty of Mathematicspt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationUniversity Medical Center Rotterdam, Erasmus MC, Department of Genetic Identificationpt_BR
dc.contributor.affiliationMedical University of Innsbruck, Institute of Legal Medicinept_BR
dc.contributor.affiliationUniversity of Cologne, Cologne Center for Genomicspt_BR
dc.contributor.affiliationUniversity of Cologne, Cologne Center for Genomicspt_BR
dc.contributor.affiliationUniversity of Cologne, Cologne Center for Genomicspt_BR
dc.contributor.affiliationUniversity Hospital Colognept_BR
dc.contributor.affiliationUniversity of Cologne, Faculty of Medicine and University Clinic, Institute of Legal Medicinept_BR
dc.contributor.affiliationUniversity of Cologne, Faculty of Medicine and University Clinic, Institute of Legal Medicinept_BR
dc.contributor.affiliationUniversity of Cologne, Faculty of Medicine and University Clinic, Institute of Legal Medicinept_BR
dc.contributor.affiliationFiji Police Forensic Biology and DNA Laboratory, Nasova, Suva, Fijipt_BR
dc.contributor.affiliationUniversidade de Brasília, Departamento Genética e Morfologiapt_BR
dc.contributor.affiliationUniversidade de Brasília, Departamento Genética e Morfologiapt_BR
dc.contributor.affiliationUniversidade de Brasília, Departamento Genética e Morfologiapt_BR
dc.contributor.affiliationJagiellonian University, Malopolska Centre of Biotechnologypt_BR
dc.contributor.affiliationUniwersytet Jagielloński, Krakow, Polandpt_BR
dc.contributor.affiliationMedical University of Innsbruck, Institute of Legal Medicinept_BR
dc.contributor.affiliationUniversity Medical Center Rotterdam, Erasmus MC, Department of Genetic Identificationpt_BR
dc.contributor.affiliationFundación Pública Galega de Medicina Xenómica (FPGMX), Instituto de Investigación Sanitaria (IDIS),15706 Santiago de Compostela, Spainpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Genomics Group, CIBERER, CIMUSpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.contributor.affiliationUniversity of Santiago de Compostela, Institute of Forensic Sciences, Forensic Genetics Unitpt_BR
dc.description.unidadeInstituto de Ciências Biológicas (IB)pt_BR
dc.description.unidadeDepartamento de Genética e Morfologia (IB GEM)pt_BR
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