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Evaluation of the HIrisPlex-S system in a Brazilian population sample

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dc.contributor.authorCarratto, T. M.T.
dc.contributor.authorMarcorin, L.
dc.contributor.authorDebortoli, G.
dc.contributor.authorSilva, G. V.
dc.contributor.authorFracasso, N. C.A.
dc.contributor.authorOliveira, M. L.G.
dc.contributor.authorPereira, A. L.E.
dc.contributor.authorSilva, A. B.C.
dc.contributor.authorDonadi, E. A.
dc.contributor.authorSimões, A. L.
dc.contributor.authorCastelli, E. C. [UNESP]
dc.contributor.authorNorton, H. L.
dc.contributor.authorParra, E. J.
dc.contributor.authorMendes-Junior, C. T.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversity of Toronto at Mississauga
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversity of Cincinnati
dc.date.accessioned2020-12-12T02:23:45Z
dc.date.available2020-12-12T02:23:45Z
dc.date.issued2019-12-01
dc.description.abstractThe main goal of DNA phenotyping is to predict externally visible characteristics (EVCs) of an individual using only its genetic information. Nowadays, the HIrisPlex-S system stands as a reliable model designed for skin color prediction. However, prediction of skin color phenotypes has not been thoroughly tested in recently admixed populations, so it is important to evaluate the applicability of this tool in these populations. This study aims to analyze the HIrisPlex-S system accuracy in an admixed sample of 276 individuals from the region of Ribeirão Preto city in Southeastern Brazil. Predictive markers were directly genotyped by Next-Generation Sequencing (NGS), Infinium Multi-Ethnic Global-8 (MEGA) Kit Array (Illumina), or imputed using the IMPUTE2 software. Skin color predictions were performed using the HIrisPlex-S online tool. Our report shows that, except for dark to black color, the tool consistently fails in determining skin phenotypes. Therefore, results reveal that the HIrisPlex-S System is less reliable when dealing with admixed population samples, not supporting its utility for forensic casework in Brazil.en
dc.description.affiliationDepartamento de Química Laboratório de Pesquisas Forenses e Genômicas Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo
dc.description.affiliationDepartamento de Genética Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo
dc.description.affiliationDepartment of Anthropology University of Toronto at Mississauga
dc.description.affiliationDivisão de Imunologia Clínica Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo
dc.description.affiliationSão Paulo State University (UNESP) Department of Pathology School of Medicine
dc.description.affiliationDepartment of Anthropology University of Cincinnati
dc.description.affiliationUnespSão Paulo State University (UNESP) Department of Pathology School of Medicine
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipNatural Sciences and Engineering Research Council of Canada
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipIdFAPESP: #2013/15447-0
dc.description.sponsorshipIdNatural Sciences and Engineering Research Council of Canada: #302590/2016-1
dc.description.sponsorshipIdCAPES: #312802/2018-8
dc.description.sponsorshipIdCNPq: #448242/2014-1
dc.format.extent794-796
dc.identifierhttp://dx.doi.org/10.1016/j.fsigss.2019.10.180
dc.identifier.citationForensic Science International: Genetics Supplement Series, v. 7, n. 1, p. 794-796, 2019.
dc.identifier.doi10.1016/j.fsigss.2019.10.180
dc.identifier.issn1875-175X
dc.identifier.issn1875-1768
dc.identifier.scopus2-s2.0-85075479755
dc.identifier.urihttp://hdl.handle.net/11449/201087
dc.language.isoeng
dc.relation.ispartofForensic Science International: Genetics Supplement Series
dc.sourceScopus
dc.subjectDNA array
dc.subjectDNA phenotyping
dc.subjectNext-generation sequencing
dc.titleEvaluation of the HIrisPlex-S system in a Brazilian population sampleen
dc.typeArtigo
dspace.entity.typePublication
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.departmentMicrobiologia e Imunologia - IBBpt

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