Author(s):
Carratto, T. M.T. ; Marcorin, L. ; Debortoli, G. ; Silva, G. V. ; Fracasso, N. C.A. ; Oliveira, M. L.G. ; Pereira, A. L.E. ; Silva, A. B.C. ; Donadi, E. A. ; Simões, A. L. ; Castelli, E. C. [UNESP] ; Norton, H. L. ; Parra, E. J. ; Mendes-Junior, C. T.
Date: 2020
Persistent ID: http://hdl.handle.net/11449/201087
Origin: Oasisbr
Subject(s): DNA array; DNA phenotyping; Next-generation sequencing; DNA array; DNA array; DNA phenotyping; DNA phenotyping; Next-generation sequencing; Next-generation sequencing
Description
Made available in DSpace on 2020-12-12T02:23:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-12-01
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Natural Sciences and Engineering Research Council of Canada
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
The 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.
Departamento de Química Laboratório de Pesquisas Forenses e Genômicas Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo
Departamento de Genética Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo
Department of Anthropology University of Toronto at Mississauga
Divisão de Imunologia Clínica Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo
São Paulo State University (UNESP) Department of Pathology School of Medicine
Department of Anthropology University of Cincinnati
São Paulo State University (UNESP) Department of Pathology School of Medicine
FAPESP: #2013/15447-0
Natural Sciences and Engineering Research Council of Canada: #302590/2016-1
CAPES: #312802/2018-8
CNPq: #448242/2014-1
