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Comparative evaluation of the MAPlex, Precision ID Ancestry Panel, and VISAGE Basic Tool for biogeographical ancestry
Peter Resutik1, Simon Aeschbacher2, Michael Krützen3
1Zurich Institute of Forensic Medicine, University of Zurich, Switzerland.
Forensic Science International. Genetics
|March 16, 2023
Summary
Forensic biogeographical ancestry (BGA) panels show similar continental-scale genetic patterns, but VISAGE BT offers the most consistent performance across diverse populations and resolutions. This aids forensic investigations by clarifying ancestry inference.
Area of Science:
- Forensic genetics
- Human population genetics
- Biogeographical ancestry inference
Background:
- Forensic biogeographical ancestry (BGA) inference using ancestry-informative markers (AIMs) is crucial for investigations.
- Existing forensic AIMs panels are limited in population scope and comparative analysis.
- Understanding panel performance across diverse populations is vital for forensic laboratories.
Purpose of the Study:
- To compare the performance of three popular forensic BGA panels (MAPlex, PIDAP, VISAGE BT) against a genome-wide SNP reference set.
- To evaluate how well these panels recover patterns of genetic diversity and infer ancestry in diverse populations.
- To identify the most consistent and accurate BGA panel for forensic applications.
Main Methods:
- Utilized the STRUCTURE genetic clustering tool for analysis.
- Compared MAPlex, Precision ID Ancestry Panel (PIDAP), and VISAGE Basic Tool (VISAGE BT) against a 10k SNP genome-wide reference set.
- Analyzed genotypes from 3957 individuals across 228 worldwide populations at multiple genetic structure scales (K=6, 7, 8).
Main Results:
- At a continental scale (K=6), all forensic panels showed high classification performance (AUC-PR > 97%) and similar genetic structure to the reference set (G'≈90%).
- Deviations from the reference set were observed at finer scales (K=7, K=8), particularly in Europe and East/Southeast Asia, linked to panel design.
- VISAGE BT demonstrated the most consistent performance across all regions and scales, achieving an average weighted AUC score of 96.26%.
Conclusions:
- Forensic BGA panels are effective for broad continental ancestry estimation.
- Panel design influences performance at finer geographical resolutions, necessitating careful selection for forensic use.
- VISAGE BT is recommended for its robust and consistent performance in biogeographical ancestry inference across diverse human populations.
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