- •Development of a new molecular assay composed of 524 SNPs for appearance and ancestry estimation.
- •An inter-laboratory exercise was conducted to evaluate the performance.
- •Forensic sensitivity (100 pg) despite a 3.5x increase in targeted markers compared to earlier tools.
- •Mixtures, challenging samples including GEDNAP, sonicated and inhibited samples were evaluated.
- Schneider P.M.
- Prainsack B.
- Kayser M.
2. Materials and methods
2.1 DNA markers
2.2 Assay design, protocol and data analysis
2.3 Inter-laboratory validation
2.3.1 Reproducibility, sensitivity and increased PCR cycles
2.3.2 Genotyping concordance and mixed DNA samples
2.3.3 Challenging samples
18.104.22.168 Mock samples
22.214.171.124 Inhibitor-spiked samples
126.96.36.199 Artificially degraded samples
2.3.4 Species specificity
3.1 Assay development
3.2 Inter-laboratory assay validation
3.2.1 Assay characterization and performance
188.8.131.52 Strand bias and nucleotide misincorporation rates
184.108.40.206 Allele read frequency balance
220.127.116.11 Sequencing baseline
18.104.22.168 Underperforming SNPs and IGV inspection
3.2.3 Genotyping concordance
3.2.5 Challenging samples
22.214.171.124 GEDNAP mock samples
126.96.36.199 Inhibited samples
188.8.131.52 Artificially degraded samples
3.2.6 Species specificity
- Schneider P.M.
- Prainsack B.
- Kayser M.
CRediT authorship contribution statement
Conflict of interest statement
Appendix A. Supplementary material
- Supplementary Table S1
- Supplementary Table S2
- Supplementary Table S3
- Supplementary Table S4
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