基于全基因组测序技术的法医SNP系谱推断灵敏度研究OA

This study investigates the detection capability of whole genome sequencing(WGS)technology for varying DNA input levels,aiming to establish a novel technical approach for SNP-based genealogical inference in forensic biological samples.On the SalusPro sequencing platform(China),WGS with a depth of 25× were performed on samples containing 0.5,0.2,and 0.05 ng of DNA respectively.From these data,645 199 autosomal SNP loci(Wegene GSA chip)were extracted and subjected to quality control.Genetic relationships were predicted by calculating the total length of identity by descent(IBD)fragments between individuals using IBD algorithms.The results demonstrated that when DNA input was ≥ 0.2 ng,the locus detection rate and genotype concordance rate exceeded 95％and 99％,respectively.The IBD fragment lengths showed no significant difference compared to the standard samples(P＞0.05),with an average confidence interval accuracy of 91.40％for 1st-to 7th-degree relationships.In contrast,at 0.05 ng DNA input,the locus detection rate and genotype concordance rate dropped below 80％and 97％,respectively.The IBD fragment lengths and confidence interval accuracy were significantly lower than those of the standard samples(P=0.004),rendering this input level unsuitable for reliable genealogical inference.