刑事技术2026，Vol.51Issue(1)：67-75,9.DOI:10.16467/j.1008-3650.2024.0093
多重扩增靶向测序在法医遗传学中的生信分析应用
Application of Bioinformatics Analysis Based on Multiplex Amplicon Targeted Sequencing in Forensic Genetics
摘要
Abstract
With the widespread application of high-throughput sequencing technology in the field of forensic genetics,effectively handling the large and complex datasets generated by high-throughput sequencing has become an urgent issue.This paper extends the Genome Analysis Toolkit Best Practices guidelines based on multiplex targeted sequencing,focusing on four genetic markers commonly used in forensic genetics:short tandem repeats(STR),single nucleotide polymorphisms(SNP),insertions and deletions(InDel),and mitochondrial DNA(mtDNA).It elaborates on how to analyze these four genetic markers from FastQ raw data to the final analysis report in three parts:data quality control,construction of necessary analysis files,and data analysis.A bioinformatics analysis workflow suitable for high-throughput sequencing raw data in the forensic genetics field is introduced,providing a feasible approach to effectively address the challenges of high-throughput sequencing data analysis.This workflow not only makes it possible to independently analyze high-throughput sequencing data,but also prepares for subsequent analyses such as population genetics if needed,offering more diversified technical support for the practical application of forensic genetics.关键词
法医遗传学/生物信息学/高通量测序/多重扩增靶向测序/多源遗传标记Key words
forensic genetics/bioinformatics/high-throughput sequencing/multiplex amplicon targeted sequencing/multi-source genetic markers分类
社会科学引用本文复制引用
韦克全,尚蕾,袁丽萍,丁光树,李万水,刘冰,孙辉..多重扩增靶向测序在法医遗传学中的生信分析应用[J].刑事技术,2026,51(1):67-75,9.基金项目
国家重点研发计划项目(2023YFC3303701) （2023YFC3303701）
