From next generation sequencing to now generation sequencing in forensics.

Abstract

Abstract In contrast to genetic diagnostic disciplines such as Oncogenetics and Cinical Genetics, where worldwide, since 2010, tens of thousands of DNA samples are routinely screened annually using either targeted genome sequencing or whole genome sequencing using massively parallel sequencing (MPS), the forensic use of MPS is still far from being a routine diagnostic tool. This perspectives focusses on issues that are essential in order to fully understand (i) why MPS of short tandem repeats (STRs) is very different from the capillary electrophoresis (CE) based genotyping of STRs, (ii) what we, DNA experts, should know before explaining MPS-based evidence in court, and (iii) what information should be present in a forensic investigation report that is MPS-based. Here one has to keep in mind that the forensic use of CE was first introduced in 1992–1993 and that it took some time to fully appreciate all intricacies. Obviously, I might be biased in my opinion, having worked on this topic since 2008, but I sincerely hope that MPS will soon be widely accepted and used because, especially in case of mixed-source DNA samples, MPS is much better in the deconvolution of the individual contributors and invariably reveals genetic information that cannot be inferred otherwise.