Uncharted waters: Next-generation sequencing and machine learning software allow forensic science to expand into phenotype prediction from DNA samples.

Abstract

Forensic molecular biology is entering uncharted waters with ethical and legal shallows to navigate. Next‐generation sequencing and other technologies now enable determination of phenotypic characteristics and thereby ethnic and racial profiling from recovered DNA samples from crime scenes, which represents a major new frontier for forensic science. At the same time, two traditional areas of forensic biology—DNA profiling and entomology to establish the time of death—have also made major advances based on these new sequencing technologies. It also has allowed forensic biology to expand into new terrains such as the illegal trafficking of rhinoceros horns and elephant tusks. > MPS has now further improved the accuracy and power of DNA typing Until around a decade ago, the two principle areas of forensic biology were DNA profiling and entomology. In some countries, palynology was also used to analyse pollen and spores so as to track where a suspect or objects from a crime scene had been before the crime. Now, the availability of massively parallel sequencing (MPS) or next‐generation sequencing (NGS) is driving genuinely new developments in forensic molecular biology. Another emerging area is the analysis of epigenetic markers on DNA samples, which can potentially yield valuable information about the age and lifestyle of suspects. “The most notable recent development is the widespread adoption of MPS or NGS for forensic purposes”, said Dennis McNevin from the Forensic Genetics department at the University of Canberra, Australia. “This has been driven by the availability of what I would call ‘forensically mature’ benchtop MPS platforms”. As a single targeted assay can cover the whole genome from field DNA samples, NGS has also enhanced traditional DNA profiling to identify suspects against a database. DNA profiling was first used in 1985 in an immigration test case by its inventor Alec Jeffreys at the University of Leicester, UK …