Evaluation of PyroMark Q48 Autoprep with HIrisPlex-S in an Italian population sample

Abstract

If there is no match in the National DNA database, forensic phenotyping represents an opportunity to give a new impulse to criminal investigation. However, in most forensic laboratories the phenotypic analysis flow is limited to few samples per year and the costs of NGS methodologies, nowadays, could be a discriminating factor. In addition, in some criminal cases time is crucial and the laboratory is required to provide information as soon as possible. In this context, we decided to evaluate the effectiveness and efficiency of PyroMark Q48 Autoprep to obtain phenotypic data using HIrisPlex-S panel on 54 samples from people of Italian origin. The evaluation to predict the eye, hair and skin colors was made possible by the statistical prediction model available online (https://hirisplex.erasmusmc.nl). Finally, the analysis requires 4 h to complete and the cost of reagents for a single sample analyzed is similar to an STR analysis with commonly used commercial forensic kits (based on 2019 quotations). Although the number of markers per run is limited by the experimental design of the PyroMark Q48 Autoprep compared to NGS methodologies, this approach represents a practical alternative to perform faster and cheaper phenotyping of a single sample.