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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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 |
work_keys_str_mv |
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ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT builesjj ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT burgosg ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT carvalhoef ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT castilloa ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT catanesici ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT cicarellirmb ghepisfgcollaborativestudyonthegeneticvariationof38autosomalindelsforhumanidentificationindifferentcontinentalpopulations AT coufalovap 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