A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequ...

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Autores principales: Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., Braganholi, D., Bravo, M.L., Brito, P., Builes, J.J., Burgos, G., Carvalho, E.F., Castillo, A., Catanesi, C.I., Cicarelli, R.M.B., Coufalova, P., Dario, P., D'Amato, M.E., Davison, S., Ferragut, J., Fondevila, M., Furfuro, S., García, O., Gaviria, A., Gomes, I., González, E., Gonzalez-Liñan, A., Gross, T.E., Hernández, A., Huang, Q., Jiménez, S., Jobim, L.F., López-Parra, A.M., Marino, M., Marques, S., Martínez-Cortés, G., Masciovecchio, V., Parra, D., Penacino, G., Pinheiro, M.F., Porto, M.J., Posada, Y., Restrepo, C., Ribeiro, T., Rubio, L., Sala, A., Santurtún, A., Solís, L.S., Souto, L., Streitemberger, E., Torres, A., Vilela-Lamego, C., Yunis, J.J., Yurrebaso, I., Gusmão, L.
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spelling todo:paper_18724973_v32_n_p18_Pereira2023-10-03T16:34:00Z A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations Pereira, R. Alves, C. Aler, M. Amorim, A. Arévalo, C. Betancor, E. Braganholi, D. Bravo, M.L. Brito, P. Builes, J.J. Burgos, G. Carvalho, E.F. Castillo, A. Catanesi, C.I. Cicarelli, R.M.B. Coufalova, P. Dario, P. D'Amato, M.E. Davison, S. Ferragut, J. Fondevila, M. Furfuro, S. García, O. Gaviria, A. Gomes, I. González, E. Gonzalez-Liñan, A. Gross, T.E. Hernández, A. Huang, Q. Jiménez, S. Jobim, L.F. López-Parra, A.M. Marino, M. Marques, S. Martínez-Cortés, G. Masciovecchio, V. Parra, D. Penacino, G. Pinheiro, M.F. Porto, M.J. Posada, Y. Restrepo, C. Ribeiro, T. Rubio, L. Sala, A. Santurtún, A. Solís, L.S. Souto, L. Streitemberger, E. Torres, A. Vilela-Lamego, C. Yunis, J.J. Yurrebaso, I. Gusmão, L. Allele frequency databases Forensic genetics Human identification Insertion deletion (indel) Population data Angola Argentina Article autosome Brazil Cape Verde China Colombia comparative study Czech Republic Ecuador forensic genetics France gene frequency genetic distance genetic variation genotype Germany homozygote human indel mutation Iraq Italy major clinical study Mexico Panama population genetics Portugal priority journal South Africa Spain Sudan Timor-Leste Uganda Uruguay ancestry group DNA fingerprinting ethnic group genetics laboratory nucleic acid database single nucleotide polymorphism statistics and numerical data microsatellite DNA Continental Population Groups Databases, Nucleic Acid DNA Fingerprinting Ethnic Groups Gene Frequency Genetics, Population Genotype Humans INDEL Mutation Laboratories Microsatellite Repeats Polymorphism, Single Nucleotide A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents. © 2017 Elsevier B.V. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_18724973_v32_n_p18_Pereira
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic Allele frequency databases
Forensic genetics
Human identification
Insertion deletion (indel)
Population data
Angola
Argentina
Article
autosome
Brazil
Cape Verde
China
Colombia
comparative study
Czech Republic
Ecuador
forensic genetics
France
gene frequency
genetic distance
genetic variation
genotype
Germany
homozygote
human
indel mutation
Iraq
Italy
major clinical study
Mexico
Panama
population genetics
Portugal
priority journal
South Africa
Spain
Sudan
Timor-Leste
Uganda
Uruguay
ancestry group
DNA fingerprinting
ethnic group
genetics
laboratory
nucleic acid database
single nucleotide polymorphism
statistics and numerical data
microsatellite DNA
Continental Population Groups
Databases, Nucleic Acid
DNA Fingerprinting
Ethnic Groups
Gene Frequency
Genetics, Population
Genotype
Humans
INDEL Mutation
Laboratories
Microsatellite Repeats
Polymorphism, Single Nucleotide
spellingShingle Allele frequency databases
Forensic genetics
Human identification
Insertion deletion (indel)
Population data
Angola
Argentina
Article
autosome
Brazil
Cape Verde
China
Colombia
comparative study
Czech Republic
Ecuador
forensic genetics
France
gene frequency
genetic distance
genetic variation
genotype
Germany
homozygote
human
indel mutation
Iraq
Italy
major clinical study
Mexico
Panama
population genetics
Portugal
priority journal
South Africa
Spain
Sudan
Timor-Leste
Uganda
Uruguay
ancestry group
DNA fingerprinting
ethnic group
genetics
laboratory
nucleic acid database
single nucleotide polymorphism
statistics and numerical data
microsatellite DNA
Continental Population Groups
Databases, Nucleic Acid
DNA Fingerprinting
Ethnic Groups
Gene Frequency
Genetics, Population
Genotype
Humans
INDEL Mutation
Laboratories
Microsatellite Repeats
Polymorphism, Single Nucleotide
Pereira, R.
Alves, C.
Aler, M.
Amorim, A.
Arévalo, C.
Betancor, E.
Braganholi, D.
Bravo, M.L.
Brito, P.
Builes, J.J.
Burgos, G.
Carvalho, E.F.
Castillo, A.
Catanesi, C.I.
Cicarelli, R.M.B.
Coufalova, P.
Dario, P.
D'Amato, M.E.
Davison, S.
Ferragut, J.
Fondevila, M.
Furfuro, S.
García, O.
Gaviria, A.
Gomes, I.
González, E.
Gonzalez-Liñan, A.
Gross, T.E.
Hernández, A.
Huang, Q.
Jiménez, S.
Jobim, L.F.
López-Parra, A.M.
Marino, M.
Marques, S.
Martínez-Cortés, G.
Masciovecchio, V.
Parra, D.
Penacino, G.
Pinheiro, M.F.
Porto, M.J.
Posada, Y.
Restrepo, C.
Ribeiro, T.
Rubio, L.
Sala, A.
Santurtún, A.
Solís, L.S.
Souto, L.
Streitemberger, E.
Torres, A.
Vilela-Lamego, C.
Yunis, J.J.
Yurrebaso, I.
Gusmão, L.
A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
topic_facet Allele frequency databases
Forensic genetics
Human identification
Insertion deletion (indel)
Population data
Angola
Argentina
Article
autosome
Brazil
Cape Verde
China
Colombia
comparative study
Czech Republic
Ecuador
forensic genetics
France
gene frequency
genetic distance
genetic variation
genotype
Germany
homozygote
human
indel mutation
Iraq
Italy
major clinical study
Mexico
Panama
population genetics
Portugal
priority journal
South Africa
Spain
Sudan
Timor-Leste
Uganda
Uruguay
ancestry group
DNA fingerprinting
ethnic group
genetics
laboratory
nucleic acid database
single nucleotide polymorphism
statistics and numerical data
microsatellite DNA
Continental Population Groups
Databases, Nucleic Acid
DNA Fingerprinting
Ethnic Groups
Gene Frequency
Genetics, Population
Genotype
Humans
INDEL Mutation
Laboratories
Microsatellite Repeats
Polymorphism, Single Nucleotide
description A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents. © 2017 Elsevier B.V.
format JOUR
author Pereira, R.
Alves, C.
Aler, M.
Amorim, A.
Arévalo, C.
Betancor, E.
Braganholi, D.
Bravo, M.L.
Brito, P.
Builes, J.J.
Burgos, G.
Carvalho, E.F.
Castillo, A.
Catanesi, C.I.
Cicarelli, R.M.B.
Coufalova, P.
Dario, P.
D'Amato, M.E.
Davison, S.
Ferragut, J.
Fondevila, M.
Furfuro, S.
García, O.
Gaviria, A.
Gomes, I.
González, E.
Gonzalez-Liñan, A.
Gross, T.E.
Hernández, A.
Huang, Q.
Jiménez, S.
Jobim, L.F.
López-Parra, A.M.
Marino, M.
Marques, S.
Martínez-Cortés, G.
Masciovecchio, V.
Parra, D.
Penacino, G.
Pinheiro, M.F.
Porto, M.J.
Posada, Y.
Restrepo, C.
Ribeiro, T.
Rubio, L.
Sala, A.
Santurtún, A.
Solís, L.S.
Souto, L.
Streitemberger, E.
Torres, A.
Vilela-Lamego, C.
Yunis, J.J.
Yurrebaso, I.
Gusmão, L.
author_facet Pereira, R.
Alves, C.
Aler, M.
Amorim, A.
Arévalo, C.
Betancor, E.
Braganholi, D.
Bravo, M.L.
Brito, P.
Builes, J.J.
Burgos, G.
Carvalho, E.F.
Castillo, A.
Catanesi, C.I.
Cicarelli, R.M.B.
Coufalova, P.
Dario, P.
D'Amato, M.E.
Davison, S.
Ferragut, J.
Fondevila, M.
Furfuro, S.
García, O.
Gaviria, A.
Gomes, I.
González, E.
Gonzalez-Liñan, A.
Gross, T.E.
Hernández, A.
Huang, Q.
Jiménez, S.
Jobim, L.F.
López-Parra, A.M.
Marino, M.
Marques, S.
Martínez-Cortés, G.
Masciovecchio, V.
Parra, D.
Penacino, G.
Pinheiro, M.F.
Porto, M.J.
Posada, Y.
Restrepo, C.
Ribeiro, T.
Rubio, L.
Sala, A.
Santurtún, A.
Solís, L.S.
Souto, L.
Streitemberger, E.
Torres, A.
Vilela-Lamego, C.
Yunis, J.J.
Yurrebaso, I.
Gusmão, L.
author_sort Pereira, R.
title A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
title_short A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
title_full A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
title_fullStr A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
title_full_unstemmed A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
title_sort ghep-isfg collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
url http://hdl.handle.net/20.500.12110/paper_18724973_v32_n_p18_Pereira
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AT torresa ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations
AT vilelalamegoc ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations
AT yunisjj ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations
AT yurrebasoi ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations
AT gusmaol ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations
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