RT Journal Article
T1 Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification
A1 Ruiz Ramírez, Jorge
A1 Ambroa Conde, Adrián
A1 Mosquera Miguel, Ana
A1 Freire Aradas, Ana María
A1 Lareu Huidobro, María Victoria
A1 Phillips, Christopher Paul
A1 Puente Vila, María del Carmen de la
K1 Forensic genetics
K1 Tri-allelic SNPs
K1 Unique Molecular Indices (UMIs)
K1 Missing persons identification
K1 Massively parallel sequencing
AB MPSplex is a large-scale forensic massively parallel sequencing (MPS) panel with 1,270 tri-allelic SNPs, 44 microhaplotypes (MH) and 55 ancestry-informative bi-allelic SNPs (aiSNPs) designed for missing persons identification. We have evaluated MPSplex with the most widely used MPS platforms in the forensic field: the Illumina MiSeq, the Thermo Fisher Scientific Ion S5 and the Qiagen GeneReader. The tri-allelic SNPs of MPSplex were previously identified from the most polymorphic loci with three common alleles in 1000 Genomes Phase III data and combined with the 44 MH and 55 aiSNPs, then implemented into a QIAseq Targeted DNA Custom Panel (Qiagen), a marker panel which uses Unique Molecular Indices or UMIs. The UMI random-sequence DNA molecules are incorporated onto DNA fragments before the Target Enrichment PCR, allowing the identification of reads that originated from the same template and consequently they can be used to correct the errors that may arise within the PCR or the sequencing process. In this study, we present the results of an inter-platform evaluation of the MPSplex panel, characterizing its performance in different forensic scenarios, which assessed aspects that include sensitivity, genotyping accuracy and mixture analysis. MPSplex aims to provide a tool designed for kinship analysis that can be applied beyond the resolution of first- or second-degree relationships, avoiding the need for much bigger forensic panels designed for genealogy purposes, which usually require significantly more sequencing resources. This study provides evaluation of MPSplex using the MPS systems in routine use for forensic genotyping of large-scale panels of SNPs.
PB Elsevier
SN 1872-4973
YR 2025
FD 2025-03-03
LK https://hdl.handle.net/10347/43565
UL https://hdl.handle.net/10347/43565
LA eng
NO Ruiz-Ramírez, J., Bittner, F., Parsons, T. J., Tillmar, A., Vangeel, L., Grandell, I., Eduardoff, M., Peck, M. A., Ambroa-Conde, A., Mosquera-Miguel, A., Freire-Aradas, A., Lareu, M. V., Phillips, C., & de la Puente, M. (2025). Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification. Forensic Science International: Genetics, 77, 103233. 10.1016/j.fsigen.2025.103233
NO J.R. was supported by the “Programa de axudas á etapa predoutoral” funded by the Consellería de Cultura, Educación e Ordenación Universitaria e da Consellería de Economía, Emprego e Industria from Xunta de Galicia, Spain (ED481A-2020/039). MVL is supported by grant PID2019–107876RB-I00 funded by the Ministerio de Educación, Cultura y Ciencia, Spain (MCIN/AEI/10.13039/501100011033) and grant PID2022–141224OB-I00 funded by MCIN/AEI/10.13039/501100011033 and “ERDF A way of making Europe”. MdlP is supported by grant IJC2020–042638-I funded by the Gobierno de España MCIN/AEI/10.13039/501100011033 and the European Union “NextGenerationEU/PRTR”. Data analysis was partially undertaken in the FinisTerrae III supercomputer from the Centro de Supercomputación de Galicia (CESGA). We would like to thank Keith Elliot and Holger Karas from Qiagen for their support and technical assistance. A special thank you goes to the ISFG board for supporting J.R. with the Short Time Fellowships program allowing this study to be accomplished at ICMP, The Hague, Netherlands.
DS Minerva
RD 30 abr 2026