这都是相对的:使用 ForenSeq™ Kintelligence 进行的多代研究

IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Forensic science international Pub Date : 2024-08-27 DOI:10.1016/j.forsciint.2024.112208
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引用次数: 0

摘要

法医调查基因系谱(FIGG)成功应用于鉴定身份不明的遗骸和严重犯罪的肇事者,使包括澳大利亚在内的国际社会对其应用越来越感兴趣。常规情况下,FIGG 依靠使用全基因组阵列 (WGA)(∼65 万或更多 SNP)或全基因组测序 (WGS)(数百万 SNP)从法医样本中生成高密度单核苷酸多态性 (SNP) 图谱,以便在商用家谱数据库中进行基于 DNA 片段的比较。迄今为止,这种方法所需的 DNA 质量和数量往往与法医样本不符。此外,它还需要管理包含医学相关 SNPs 的大型数据集。ForenSeq™ Kintelligence 检测试剂盒包含 10,230 个 SNPs,其中 9867 个用于亲缘关系关联,其设计目的是利用针对低 DNA 输入、受抑制和/或降解的法医样本开发的基于目标扩增片段测序的方法来克服这些挑战。为了评估 ForenSeq™ Kintelligence 工作流程正确预测生物学关系的能力,我们使用 ForenSeq™ Kintelligence 和 WGA 方法(使用 Illumina 全球筛查阵列-24 3.0 版芯片)对一个家族中的 12 个个体(从一级亲属到六级亲属)进行了比较研究。使用 ForenSeq™ Kintelligence 预测了所有预期的 1、2、3、4 和 5 级关系,但没有检测到预期的 6 级关系。鉴于(通常)法医样本有限,本研究的结果将有助于澳大利亚执法部门和其他考虑使用 FIGG 的机构确定 ForenSeq™ Kintelligence 是否适合现有工作流程和 FIGG 考虑的案件样本类型。
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It’s all relative: A multi-generational study using ForenSeq™ Kintelligence

The successful application of Forensic Investigative Genetic Genealogy (FIGG) to the identification of unidentified human remains and perpetrators of serious crime has led to a growing interest in its use internationally, including Australia. Routinely, FIGG has relied on the generation of high-density single nucleotide polymorphism (SNP) profiles from forensic samples using whole genome array (WGA) (∼650,000 or more SNPs) or whole genome sequencing (WGS) (millions of SNPs) for DNA segment-based comparisons in commercially available genealogy databases. To date, this approach has required DNA of a quality and quantity that is often not compatible with forensic samples. Furthermore, it requires the management of large data sets that include SNPs of medical relevance. The ForenSeq™ Kintelligence kit, comprising of 10,230 SNPs including 9867 for kinship association, was designed to overcome these challenges using a targeted amplicon sequencing-based method developed for low DNA inputs, inhibited and/or degraded forensic samples. To assess the ability of the ForenSeq™ Kintelligence workflow to correctly predict biological relationships, a comparative study comprising of 12 individuals from a family (with varying degrees of relatedness from 1st to 6th degree relatives) was undertaken using ForenSeq™ Kintelligence and a WGA approach using the Illumina Global Screening Array-24 version 3.0 Beadchip. All expected 1st, 2nd, 3rd, 4th and 5th degree relationships were correctly predicted using ForenSeq™ Kintelligence, while the expected 6th degree relationships were not detected. Given the (often) limited availability of forensic samples, findings from this study will assist Australian Law enforcement and other agencies considering the use of FIGG, to determine if the ForenSeq™ Kintelligence is suitable for existing workflows and casework sample types considered for FIGG.

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来源期刊
Forensic science international
Forensic science international 医学-医学:法
CiteScore
5.00
自引率
9.10%
发文量
285
审稿时长
49 days
期刊介绍: Forensic Science International is the flagship journal in the prestigious Forensic Science International family, publishing the most innovative, cutting-edge, and influential contributions across the forensic sciences. Fields include: forensic pathology and histochemistry, chemistry, biochemistry and toxicology, biology, serology, odontology, psychiatry, anthropology, digital forensics, the physical sciences, firearms, and document examination, as well as investigations of value to public health in its broadest sense, and the important marginal area where science and medicine interact with the law. The journal publishes: Case Reports Commentaries Letters to the Editor Original Research Papers (Regular Papers) Rapid Communications Review Articles Technical Notes.
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