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Updated: Dec 8, 2025

G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome
Published on: March 22, 2018
The first GHEP-ISFG collaborative exercise on forensic applications of massively parallel sequencing
Pedro A Barrio1, Óscar García2, Christopher Phillips3
1Working 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; Biology Service, National Institute of Toxicology and Forensic Sciences, Department of Madrid, Spain.
Massively Parallel Sequencing (MPS) in forensic genetics shows high concordance with conventional methods for autosomal STR analysis. While platforms vary, results are generally consistent, highlighting the need for standardized nomenclature and validation for routine casework.
Area of Science:
- Forensic Genetics
- Molecular Biology
- Genomics
Background:
- The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) aims to advance forensic genetics knowledge.
- Working Commissions within GHEP-ISFG conduct scientific activities, including the evaluation of new technologies.
Purpose of the Study:
- To assess the concordance of Massively Parallel Sequencing (MPS) results with conventional forensic genetic techniques.
- To compare different MPS platforms, kits, and analysis software for forensic applications.
- To evaluate the performance of MPS for various genetic markers.
Main Methods:
- A collaborative exercise involving seven laboratories using Ion Torrent™ or MiSeq FGx® platforms.
- Analysis of proficiency test samples (EIADN No. 27 (2019)) for autosomal STRs, SNPs (individual identification, ancestry, phenotype, lineage), Y-STRs, X-STRs, and mitochondrial DNA control region.
- Comparison of MPS data against capillary electrophoresis consensus data.
Main Results:
- High concordance between MPS autosomal STR sequencing and capillary electrophoresis.
- Generally high agreement among participating laboratories, irrespective of the MPS platform used.
- Main discordances stemmed from analysis errors or low sequencing depth.
Conclusions:
- MPS is a reliable technology for forensic genetic analysis, showing high concordance with established methods.
- Standardization of nomenclature for MPS-analyzed STRs and universal adoption by analysis software are crucial.
- Validation and accreditation of MPS platforms are necessary for routine forensic casework.
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