Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models

Abstract

In the past few years, forensic DNA phenotyping has attracted a strong interest in the forensic research. Among the increasing publications, many have focused on testing the available panels to infer biogeographical ancestry on less represented populations and understanding the genetic mechanisms underlying externally visible characteristics. However, there are currently no publications that gather all the existing panels limited to forensic DNA phenotyping and discuss the main technical limitations of the technique. In this review, we performed a bibliographic search in Scopus database of phenotyping-related literature, which resulted in a total of 48, 43, and 15 panels for biogeographical ancestry, externally visible characteristics, and both traits inference, respectively. Here we provide a list of commercial and non-commercial panels and the limitations regarding the lack of harmonization in terms of terminology (i.e., categorization and measurement of traits) and reporting, the lack of genetic knowledge and environment influence to select markers and develop panels, and the debate surrounding the selection of genotyping technologies and prediction models and algorithms. In conclusion, this review aims to be an updated guide and to present an overview of the current related literature.