刑事技术2026，Vol.51Issue(3)：246-251,6.DOI:10.16467/j.1008-3650.2025.0014
基于全基因组测序技术的法医SNP系谱推断灵敏度研究
Sensitivity Analysis of Forensic SNP Genealogical Inference Based on Whole Genome Sequencing Technology
摘要
Abstract
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.关键词
微量DNA/全基因组测序/单核苷酸多态性/IBD算法/系谱推断技术Key words
trace DNA/whole genome sequencing/single nucleotide polymorphism/identity by descent/genealogical inference technique分类
社会科学引用本文复制引用
孙一杰,逯经纬,李晶,方之晓,赵雯婷,刘京,胡兰,李彩霞..基于全基因组测序技术的法医SNP系谱推断灵敏度研究[J].刑事技术,2026,51(3):246-251,6.基金项目
国家自然科学基金面上项目(82171870) （82171870）
国家重点研发计划(2022YFC3341004) （2022YFC3341004）
