靶向下一代测序在法医学中的意义

M. R. Khan
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引用次数: 7

摘要

下一代测序的爆发在吞吐量、可扩展性和等位基因分辨率方面已经超过了传统的基于毛细管电泳(CE)的法医基因组学。基于CE的STR(短串联重复序列)和SNPs(单核苷酸多态性)标记物检测系统与法医DNA表型相关的局限性已通过下一代测序(NGS)大大克服。它提供了对包括STR、SNPs、突变和转录物在内的法律相关遗传标记的同时分析,以通过大规模平行测序提高效率、能力和分辨率。与世界各地不断增长的DNA数据库相比,详细的序列信息可能有助于混合物的解释,并将确保提高证据的统计权重。目前,共有33台低至高通量NGS机器可用,但有两个专用系统,包括MiSeq®FGx™ 法医基因组学系统(Illumina)和HID离子个人基因组机(PGM)™ (赛默飞世尔科技公司)提供定制的具有法律信息的SNP面板的测序。Ion torrent推出了Ion S5和Ion S5 XL(具有额外的本地计算功能,可提高其分析速度),其中包括相同的核心仪器。法医基因组学的未来在于综合高通量方法,以解决越来越多的法医标本和样本受损和退化的案件或大规模灾难研究。未来,新的实时测序平台将彻底改变法医基因组学领域。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Implications of Targeted Next Generation Sequencing in Forensic Science
The outburst of next generation sequencing has outpaced the traditional capillary electrophoresis (CE) based forensic genomics in terms of throughput, scalability and allelic resolutions. The limitations of CE-based detection system for STRs (Short Tandem Repeats) and SNPs (Single Nucleotide Polymorphisms) markers associated with forensic DNA phenotyping have been greatly overcome through next generation sequencing (NGS). It offers simultaneous analysis of forensically relevant genetic markers including STRs, SNPs, mutations and transcripts to improve efficiency, capacity and resolution through massively parallel sequencing. The detailed sequence information in comparison with ever growing DNA databases across the world may aid mixture interpretation, and will ensure enhancement in statistical weight of the evidence. Nowadays, a total of 33 NGS machines with low to high throughput are available but two dedicated systems including MiSeq®FGx™ Forensic Genomics System (Illumina) and the HID-Ion Personal Genome Machine (PGM)™ (Thermo Fisher Scientific) offer the sequencing of customized forensically informative SNP panels. Ion torrent launches Ion S5 and Ion S5 XL (with additional feature of local computing which enhances its analysis speed) which include same core instrument. The future of forensic genomics lies with integrated high throughput approaches to solve the increasing number of cases or mass disaster studies where forensic specimens and samples are compromised and degraded. In future new real-time sequencing platforms will revolutionize the field of forensic genomics.
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