Forensic Science International: Genetics 49 (2020) 102391 Available online 18 September 2020 1872-4973/© 2020 Elsevier B.V. All rights reserved. Research paper The frst GHEP-ISFG collaborative exercise on forensic applications of massively parallel sequencing Pedro A. Barrio a, b, *, ´ Oscar García a, c , Christopher Phillips a, d , Lourdes Prieto a, d, e , Leonor Gusm˜ ao a, f , Coro Fern´ andez g , Ferran Casals h , Jorge M. Freitas i , María del Carmen Gonz´ alez-Albo b , Pablo Martín b , Ana Mosquera d , Isabel Navarro-Vera j , Manuel Paredes k , Juan Antonio P´ erez c , Andrea Pinz´ on l , Raquel Rasal h , Jorge Ruiz-Ramírez d , Bruno R. Trindade i , Antonio Alonso a, b a Working Commission on “Massively Parallel Sequencing (MPS): Forensic Applications” of the GHEP-ISFG (The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics), Spain b Biology Service, National Institute of Toxicology and Forensic Sciences, Department of Madrid, Spain c Forensic Science Unit, Forensic Genetics Section, Basque Country Police, Erandio, Bizkaia, Spain d Forensic Genetics Unit, University of Santiago de Compostela, Spain e Comisaría General de Policía Científca, Madrid, Spain f DNA Diagnostics Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil g Quality Service, National Institute of Toxicology and Forensic Sciences, Department of Madrid, Spain h Servei de Gen` omica, Departament de Ci` encies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain i Instituto Nacional de Criminalística, Polícia Federal, Brazil j Citogen S.L., Zaragoza, Spain k Subdirecci´ on de Investigaci´ on Científca, Instituto Nacional de Medicina Legal y Ciencias Forenses, Colombia l Grupo Nacional de Ciencias Forenses, Instituto Nacional de Medicina Legal y Ciencias Forenses, Colombia A R T I C L E INFO Keywords: MPS Short tandem repeat (STR) Mitochondrial DNA (mtDNA) Single nucleotide polymorphism (SNP) Forensic genetics Spanish and Portuguese-speaking working group ABSTRACT One of the main goals of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientifc knowledge in the feld of forensic genetics. The GHEP-ISFG supports several Working Commissions which develop different scientifc activities. One of them, the Working Commission on “Massively Parallel Sequencing (MPS): Forensic Applications”, organized its frst collaborative exercise on forensic applications of MPS tech- nology in 2019. The aim of this exercise was to assess the concordance between the MPS results and those obtained with conventional technologies (capillary electrophoresis and Sanger sequencing), as well as to compare the results obtained within the different MPS platforms and/or the different kits/panels and analysis software packages (commercial and open-access) available on the market. The seven participating laboratories analyzed some samples of the annual GHEP-ISFG profciency test (EIADN No. 27 (2019)), using Ion Torrent™ or MiSeq FGx® platforms. Six of them sent autosomal STR sequence data, fve laboratories performed MPS analysis of individual identifcation SNPs, four laboratories reported MPS data of Y-chromosomal STRs, and X-chromo- somal STRs, three laboratories performed MPS analysis of ancestry informative SNPs and phenotype informative SNPs, two labs performed MPS analysis of the mitochondrial DNA control region, and only one lab produced MPS data of lineage informative SNPs. Autosomal STR sequencing results were highly concordant to the consensus obtained by capillary electrophoresis in the EIADN No. 27 (2019) exercise. Furthermore, in general, a high level of concordance was observed between the results of the participating laboratories, regardless of the platform used. The main discordances were due to errors during the analysis process or from sequence data obtained with low depth of coverage. In this paper we highlight some issues that still arise, such as standardization of the nomenclature for STRs analyzed by sequencing with MPS, the universal uptake of a nomenclature framework by the analysis software, and well established validation and accreditation of the new MPS platforms for use in routine forensic case-work. * Corresponding author at: National Institute of Toxicology and Forensic Sciences, Biology Service, Jos´ e Echegaray 4, 28232, Las Rozas, Madrid, Spain. E-mail address: pedro.barrio@justicia.es (P.A. Barrio). Contents lists available at ScienceDirect Forensic Science International: Genetics journal homepage: www.elsevier.com/locate/fsigen https://doi.org/10.1016/j.fsigen.2020.102391 Received 9 May 2020; Received in revised form 20 August 2020; Accepted 28 August 2020