法医学研究杂志

Implications of Targeted Next Generation Sequencing in Forensic Science

Abstract

Sobiah R, Syeda RH, Zunaira E, Nageen Z, Maria K, Syeda AZ, Shahana SM, Akifa M, Abdul J and Muhammad RK

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.