Population Genetic Analysis with the NimaGen IDseek OmniSNP Identity Informative SNP Typing Kit

Abstract

This study aims to establish allele frequencies and study standard forensic parameters generated with the IDseek OmniSNP Identity Informative SNP Typing Reverse Complement PCR (RC-PCR) library preparation kit across populations for future forensic applications. DNA samples from 143 individuals from three major population groups were typed. The OmniSNP kit targets 85 identity-informative SNPs, providing an ancillary alternative to traditional short tandem repeats (STRs) analysis, which can be inefficient for samples with low DNA quality (i.e., highly degraded). The resulting genotypes demonstrated 99.9% concordance with previously published data. The analysis showed relatively uniform distribution of allele frequencies across loci, with the minor allele frequencies for all loci by population exceeding 0.3 in 75% of loci. Forensic parameters, including discrimination power, polymorphism information content, and observed and expected heterozygosity, were calculated. No significant deviations from Hardy Weinberg Equilibrium were observed. The mean combined Random Match Probability (RMP) was 1.45 × 10⁻³³, demonstrating improved discrimination power over that of CE-STR kits which are approximately 1 × 10⁻²⁶. Overall, the OmniSNP kit presents a powerful and effective tool for human identification, especially in cases of highly degraded samples, while emphasizing the utility of SNPs as an alternative genetic marker for forensic genotyping.