engleski

Massively parallel sequencing (MPS) technology in forensic genetics

Massively parallel sequencing (MPS) technology provided potential to get fast, cost-effective and comprehensive insight into individual genomes of all living organisms. Accessibility of huge amount of sequencing data enabled discovery of new genetic markers relevant for unique, intraspecific characterization of species members. Besides many other applications, an explosion of new findings on individual differences became extremely interesting for forensic genetics. After all, the main goal of biological trace analysis in forensics is to maximize probability of individualization and to assess relationships between participants involved in criminal case. Traditional method of forensic DNA typing, capillary electrophoresis of short tandem repeats (CE-STR), has been in use for decades. Its extreme efficiency in identification has been proved countless times. However, it seems that the time for taking over by new, advanced, more powerful technology has finally come. Not only does MPS increase discrimination power of all inferences of identity, ancestry and kinship produced by CE-STR analysis, it also brings a spectrum of new forensic applications that are completely beyond the grasp of CE-STR. It is mainly so because unlike length-based method, information like phenotype, age, biogeographic origin etc. are based on many, simultaneously analyzed sequence variations. In our research, striving towards implementation of MPS into routine forensic practice, we employ MiSeqTM FGx system with ForenSeqTM DNA Signature Prep Kit (Illumina®) that enables simultaneous sequencing of 58 STR markers, as well as 174 single nucleotide polymorphysms relevant for identity, phenotype and ancestry inference in a single sample. Presently, many laboratories test MPS performances in many forensic aspects. Although some of applications might fail to prove useful for actual casework, only comprehensive research will accelerate final implementation, thus shaping the future of forensic genetics.

massively parallel sequencing, forensic genetics

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