Suppr超能文献

这都是相对的:一项使用 ForenSeq™ Kintelligence 的多代研究。

It's all relative: A multi-generational study using ForenSeq™ Kintelligence.

机构信息

Victorian Institute of Forensic Medicine, Victoria, Australia.

Forensic Evidence and Technical Services, New South Wales Police Force, Sydney, Australia.

出版信息

Forensic Sci Int. 2024 Nov;364:112208. doi: 10.1016/j.forsciint.2024.112208. Epub 2024 Aug 27.

Abstract

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.

摘要

法医学调查遗传基因学(FIGG)在识别身份不明的人类遗骸和严重犯罪行为者方面的成功应用,导致国际上对其应用的兴趣日益浓厚,包括澳大利亚。通常情况下,FIGG 依赖于使用全基因组阵列(WGA)(约 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)谱,以便在商业上可用的家谱数据库中进行基于 DNA 片段的比较。迄今为止,这种方法需要具有高质量和数量的 DNA,而这些通常与法医样本不兼容。此外,它需要管理包括具有医学相关性的 SNP 的大型数据集。ForenSeq™ Kintelligence 试剂盒包含 10230 个 SNP,包括 9867 个用于亲属关系关联的 SNP,旨在克服这些挑战,采用针对低 DNA 输入、抑制和/或降解法医样本的靶向扩增子测序方法。为了评估 ForenSeq™ Kintelligence 工作流程正确预测生物学关系的能力,对来自一个家庭的 12 个人(从第一到第六度亲属的亲属关系程度不同)进行了一项比较研究,使用 ForenSeq™ Kintelligence 和使用 Illumina Global Screening Array-24 版本 3.0 Beadchip 的 WGA 方法。使用 ForenSeq™ Kintelligence 正确预测了所有预期的第一、第二、第三、第四和第五度关系,而未检测到预期的第六度关系。鉴于法医样本的(通常)有限可用性,这项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 是否适合现有的工作流程和考虑用于 FIGG 的案例样本类型。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验