Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification

Area of Science:

• Forensic Genetics
• Genomic Technologies

Background:

• Massively Parallel Sequencing (MPS) is crucial for forensic identification.
• Existing panels may lack the resolution for complex kinship cases or require excessive resources.

Purpose of the Study:

• To evaluate the performance of the MPSplex panel across different forensic MPS platforms.
• To assess MPSplex's utility for missing persons identification and kinship analysis.

Main Methods:

• The MPSplex panel, containing 1,270 tri-allelic SNPs, 44 microhaplotypes, and 55 ancestry-informative SNPs, was tested on Illumina MiSeq, Thermo Fisher Ion S5, and Qiagen GeneReader platforms.
• Unique Molecular Indices (UMIs) were employed for error correction during PCR and sequencing.
• Performance was evaluated based on sensitivity, genotyping accuracy, and mixture analysis in various forensic scenarios.

Main Results:

• MPSplex demonstrated reliable performance across the evaluated MPS platforms.
• The panel showed high sensitivity and genotyping accuracy.
• Mixture analysis capabilities were assessed, indicating suitability for complex forensic casework.

Conclusions:

• MPSplex is a robust tool for forensic identification and kinship analysis, suitable for large-scale SNP genotyping.
• Its design offers a balance between resolution and resource requirements, differentiating it from genealogy panels.
• The panel's inter-platform compatibility enhances its applicability in diverse forensic laboratories.