Pitfalls, challenges and caveats in whole mitochondrial genome sequencing from hair shafts by MPS: where, when and how to address them

The growing use of massively parallel sequencing (MPS) for the whole mitochondrial genome analysis in forensic laboratories, requires the establishment of efficient work flows and interpretation procedures, to support the feasibility of the technology and the reliability of the data. In the case of reference samples, such as blood and buccal swabs, the generation of mtDNA profiles by using MPS is relatively simple. Conversely, many forensic casework samples still p ose challenges for the MPS, data interpretation and reporting of mtDNA.

Source: Forensic Science International: Genetics Supplement Series - October 19, 2022 Category: Forensic Medicine Authors: Chiara Turchi, Filomena Melchionda, Federica Alessandrini, Valerio Onofri, Mauro Pesaresi, Loredana Buscemi, Adriano Tagliabracci Source Type: research