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Case report: on the use of the HID-Ion AmpliSeq (TM) Ancestry Panel in a real forensic case

机译:病例报告:关于HID-Ion AmpliSeq(TM)祖先试剂盒在真实法医案件中的应用

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摘要

In the absence of any other conclusive forensic evidence, DNA profiling is the method of choice for body identification. This study focuses on the case of a carbonized corpse whose complete autosomal short tandem repeat (STR) profile could not lead to direct identification by the investigators. To assist in the progress of investigation, we endeavoured to determine the biogeographical origin and eye colour of the deceased individual. Along with Y chromosome and mitochondrial DNA analyses, we applied a next-generation sequencing (NGS) approach to the study of ancestry informative markers (AIMs) using the HID-Ion AmpliSeq (TM) Ancestry Panel launched by Thermo Fisher Scientific. This work gave us the opportunity to test this new technology in a real forensic case. Although this study highlights the benefits of such a combined approach, as it markedly improves the specificity of the biogeographical profile, it also underlines the need for the accurate characterization of a larger collection of reference populations and the necessity of caution in data interpretation.
机译:在没有任何其他确凿的法医证据的情况下,DNA分析是尸体鉴定的首选方法。本研究的重点是一具碳化尸体的案例,其完整的常染色体短串联重复 (STR) 谱无法导致研究人员直接识别。为了协助调查,我们努力确定死者的生物地理来源和眼睛颜色。除了 Y 染色体和线粒体 DNA 分析外,我们还使用 Thermo Fisher Scientific 推出的 HID-Ion AmpliSeq (TM) 祖先检测组合,将下一代测序 (NGS) 方法应用于祖先信息标记 (AIM) 的研究。这项工作使我们有机会在真实的法医案件中测试这项新技术。尽管这项研究强调了这种综合方法的好处,因为它显着提高了生物地理概况的特异性,但它也强调了对更大范围的参考种群进行准确描述的必要性,以及在数据解释中谨慎的必要性。

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