多重扩增靶向测序在法医遗传学中的生信分析应用OA

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.