Revolutionizing Forensic DNA Analysis: Hybridization Capture-Based SNP Panel with NGS
Organized by: International Forensic Scientist Awards
Website: forensicscientist.org
13th Edition of Forensic Scientist Awards 28-29 August 2025 | Berlin Germany
Forensic DNA analysis has long relied on short tandem repeats (STRs) as the gold standard for identity verification and kinship testing. However, when dealing with trace or degraded DNA, STRs can face significant limitations. This is where single nucleotide polymorphisms (SNPs) come into play, offering higher resilience and broader applicability.
Our latest research introduces a novel hybridization capture-based SNP panel integrated with next-generation sequencing (NGS), specifically optimized for forensic investigations. This breakthrough was tested on a large-scale dataset of 8,464 unrelated Chinese Han individuals, providing population-specific allele frequencies for 2,998 biallelic SNPs after stringent quality control.
After excluding SNPs deviating from Hardy–Weinberg equilibrium and those in linkage disequilibrium, we finalized a panel of 2,790 autosomal SNPs. This system showed remarkable sensitivity, delivering reliable results with as little as 0.1 ng of DNA.
Our tests spanned a variety of forensic samples—blood cards, sperm stains, oral swabs, nails, and hair roots—and demonstrated consistent genotyping performance at 1–5 ng DNA input. While prolonged storage (3 months) reduced SNP recovery, buccal swabs proved more stable than other substrates.
Key findings:
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Ultra-high discriminatory power: TDP = 1–4.75×10⁻¹¹⁴⁹
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Strong exclusion capability: CPE = 1–4.61×10⁻¹⁴⁹
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Minimal SNPs needed: 31 for identity verification; 270 for 100% accurate parentage testing in duo cases
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Robust against degradation and suitable for diverse sample types
This NGS-based forensic tool not only strengthens human identification and kinship analysis but also adapts to degraded or low-quantity samples, providing population-tailored precision for the Han Chinese cohort.
Our work paves the way for next-generation forensic science, offering unprecedented accuracy, sensitivity, and applicability in real-world criminal investigations, disaster victim identification, and historical casework.
Conclusion:
This study demonstrates that a hybridization capture-based SNP panel integrated with next-generation sequencing is a powerful and reliable tool for forensic DNA analysis. By establishing a population-specific SNP database for the Chinese Han population and ensuring robust performance across diverse biological samples, the system offers exceptional sensitivity, degradation tolerance, and discriminatory power.
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