Evaluation of a hybridization capture-based hereditary panel for forensic DNA analysis using next-generation...

Area of Science:

• Forensic Genetics
• Molecular Biology
• Population Genetics

Background:

• Short tandem repeats (STRs) are standard forensic markers but struggle with degraded or trace DNA samples.
• Single nucleotide polymorphisms (SNPs) present a promising alternative for overcoming STR limitations in forensic applications.

Purpose of the Study:

• To develop and validate a novel hybridization capture-based SNP panel integrated with next-generation sequencing (NGS) for forensic DNA analysis.
• To establish population-specific allele frequencies for a comprehensive SNP panel in the Chinese Han population.

Main Methods:

• Developed a hybridization capture-based SNP panel for NGS.
• Genotyped 8,464 unrelated Chinese Han individuals to determine allele frequencies.
• Applied rigorous quality control, including Hardy-Weinberg equilibrium and linkage disequilibrium analysis, to finalize the SNP panel.
• Assessed sensitivity, sample type performance, and storage stability.

Main Results:

• A final panel of 2,790 autosomal SNPs was established after quality control.
• The system demonstrated high sensitivity, enabling reliable analysis with as little as 0.1 ng DNA.
• Exceptional discriminatory power was achieved, with a total discrimination power (TDP) of 1-4.75 × 10^-1149.
• Buccal swabs showed greater temporal stability compared to other sample types after prolonged storage.

Conclusions:

• The developed NGS-based SNP panel provides a robust solution for forensic identification and kinship analysis in the Han Chinese population.
• This method offers enhanced degradation tolerance and broad sample applicability, surpassing traditional STR analysis limitations.
• The panel's population-specific allele frequencies and high discriminatory power ensure accurate forensic casework and genetic relationship testing.