Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases

Area of Science:

• Forensic Genetics
• Population Genetics
• Genomics

Background:

• Existing single nucleotide polymorphism (SNP) panels for individual identification lack universal applicability due to population-specific SNP selection.
• Genome-wide SNP mining is crucial for developing universally applicable identification tools.

Purpose of the Study:

• To identify a comprehensive set of universally applicable SNPs for individual identification.
• To evaluate the performance of a novel SNP panel for forensic applications.

Main Methods:

• Genome-wide SNP mining using HapMap and 1000 Genomes databases across 37 populations.
• Selection of SNPs based on high minor allele frequency (MAF) and absence of linkage disequilibrium.
• Validation of selected SNPs in Han Chinese samples for MAF, Hardy-Weinberg equilibrium, cumulative match probability (CMP), and cumulative exclusion probability (CEP).

Main Results:

• A total of 117 SNPs with MAF ≥0.39 and no linkage disequilibrium were identified.
• 110 of these SNPs maintained high MAF and Hardy-Weinberg equilibrium in Han samples.
• The 110-SNP panel demonstrated superior CMP and CEP compared to existing commercial panels when analyzing an equivalent number of SNPs.

Conclusions:

• The developed 110-SNP panel is highly effective for forensic identification, offering improved discriminatory power.
• This study provides a valuable resource of highly informative SNPs for the development of future universal forensic identification panels.